Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg)	SNV Germline	Chr2:27378156	Conflicting classifications of pathogenicity	Retinitis pigmentosa 58 Condition: not provided	Criteria Provided Conflicting Classifications	CA251354	rs_267607182	3 SubmittersRCV000000045 RCV001239265
NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter)	SNV Germline	Chr2:61840319	Pathogenic	Retinitis pigmentosa 28 Retinal dystrophy Autosomal recessive retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251355	rs_267606794	11 SubmittersRCV000000052 RCV001074032 RCV001257835 RCV001090971
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)	SNV Germline	Chr2:61839695	Pathogenic	Retinitis pigmentosa 28 Condition: not provided Cone-rod dystrophy Retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA233978	rs_200691042	22 SubmittersRCV000000053 RCV000153226 RCV000678572 RCV000787604 RCV000778621
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)	SNV Germline	Chr2:61839437	Pathogenic	Retinitis pigmentosa 28 Retinal dystrophy Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA233972	rs_202193201	17 SubmittersRCV000000055 RCV000787606 RCV000790648 RCV001003031
NM_001201543.2(FAM161A):c.1786C>T (p.Arg596Ter)	SNV Germline	Chr2:61836075	Pathogenic	Retinitis pigmentosa 28 Condition: not provided	Criteria Provided Single Submitter	CA251358	rs_267606793	3 SubmittersRCV000000056 RCV001054497
NM_001029883.3(PCARE):c.759G>A (p.Trp253Ter)	SNV Germline	Chr2:29073503	Pathogenic	Retinitis pigmentosa 54	No Assertion Criteria Provided	CA346481613	rs_2148416762	1 SubmittersRCV000000121
NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter)	SNV Germline	Chr2:29073706	Pathogenic	Retinitis pigmentosa 54 Retinitis pigmentosa	No Assertion Criteria Provided	CA251388	rs_267606691	2 SubmittersRCV000000124 RCV001002905
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter)	SNV Germline	Chr6:64436244	Pathogenic	Retinitis pigmentosa 25 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251491	rs_137853189	6 SubmittersRCV000000567 RCV001387157
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	SNV Germline	Chr6:63720626	Pathogenic/Likely pathogenic	Retinitis pigmentosa 25 Condition: not provided Retinal dystrophy Retinitis pigmentosa EYS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA251493	rs_137853190	16 SubmittersRCV000000568 RCV000593252 RCV001075385 RCV001723527 RCV003914789
NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter)	SNV Germline	Chr4:15537074	Pathogenic	Meckel syndrome, type 6 Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2863751	rs_116358011	4 SubmittersRCV000000778 RCV001385996 RCV005024978 RCV005409592
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)	SNV Germline	Chr4:15599614	Pathogenic/Likely pathogenic	Joubert syndrome 9 Condition: not provided COACH syndrome 2 Meckel syndrome, type 6 Joubert syndrome Meckel-Gruber syndrome CC2D2A-related disorder Joubert syndrome 9 Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA114471	rs_118204052	9 SubmittersRCV000000780 RCV000445290 RCV001269034 RCV003234885 RCV003764503 RCV004532267 RCV005031374
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)	SNV Germline	Chr4:15559183	Pathogenic	Joubert syndrome 9 Condition: not provided Inborn genetic diseases Meckel-Gruber syndrome Joubert syndrome CC2D2A-related disorder Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA114473	rs_118204053	9 SubmittersRCV000000781 RCV000727257 RCV001266487 RCV002512617 RCV004528061 RCV005222657
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)	SNV Germline	Chr4:15563485	Pathogenic	COACH syndrome 2 Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 9/15, digenic Condition: not provided Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9 See cases Inborn genetic diseases Meckel syndrome, type 6 COACH syndrome 2 Joubert syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA129544	rs_386833750	8 SubmittersRCV000000783 RCV000199602 RCV000023922 RCV000578695 RCV002476904 RCV002251848 RCV005305943 RCV004795365
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)	SNV Germline	Chr4:15567735	Conflicting classifications of pathogenicity	COACH syndrome 2 Condition: not provided Joubert syndrome 9 Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9	Criteria Provided Conflicting Classifications	CA210343	rs_267606709	6 SubmittersRCV000000784 RCV000729670 RCV000201781 RCV001383566 RCV005031375
NM_001031710.3(KLHL7):c.449G>A (p.Ser150Asn)	SNV Germline	Chr7:23140775	Pathogenic/Likely pathogenic	Retinitis pigmentosa 42 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251665	rs_137853112	3 SubmittersRCV000001063 RCV001383036
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)	SNV Germline	Chr7:23140784	Pathogenic/Likely pathogenic	Retinitis pigmentosa 42 Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA221427	rs_137853113	12 SubmittersRCV000001064 RCV000079374 RCV001003071 RCV001073803
NM_001031710.3(KLHL7):c.457G>A (p.Ala153Thr)	SNV Germline	Chr7:23140783	Pathogenic	Retinitis pigmentosa 42 Retinal dystrophy	Criteria Provided Single Submitter	CA251666	rs_137853114	2 SubmittersRCV000001065 RCV004814788
NM_152419.3(HGSNAT):c.493+1G>A	SNV Germline	Chr8:43159045	Pathogenic	Mucopolysaccharidosis, MPS-III-C Sanfilippo syndrome Mucopolysaccharidosis, MPS-III-C Retinitis pigmentosa 73 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114861	rs_193066451	8 SubmittersRCV000001289 RCV000780343 RCV000763183 RCV002512639 RCV005414443
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)	SNV Germline	Chr8:43173740	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-III-C Condition: not provided Retinal dystrophy Retinitis pigmentosa 73 Mucopolysaccharidosis, MPS-III-C Sanfilippo syndrome Retinitis pigmentosa 73	Criteria Provided Multiple Submitters No Conflicts	CA114863	rs_121908282	9 SubmittersRCV000001291 RCV000512873 RCV000504894 RCV000763184 RCV003330379 RCV005252654
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)	SNV Germline	Chr8:43193824	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-III-C Retinitis pigmentosa 73 Mucopolysaccharidosis, MPS-III-C Sanfilippo syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA114867	rs_121908284	4 SubmittersRCV000001293 RCV001378638 RCV003323346 RCV004984634
NM_152419.3(HGSNAT):c.372-2A>G	SNV Germline	Chr8:43158921	Pathogenic	Mucopolysaccharidosis, MPS-III-C Mucopolysaccharidosis, MPS-III-C Retinitis pigmentosa 73 Sanfilippo syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114870	rs_483352896	7 SubmittersRCV000001295 RCV001067306 RCV000586364 RCV005429210
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)	SNV Germline	Chr8:43182162	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-III-C Retinitis pigmentosa 73 Mucopolysaccharidosis, MPS-III-C Mucopolysaccharidosis Sanfilippo syndrome Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA114871	rs_121908285	13 SubmittersRCV000001296 RCV000799182 RCV001030801 RCV003114169 RCV001699017 RCV003887846
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe)	SNV Germline	Chr8:43197682	Pathogenic	Mucopolysaccharidosis, MPS-III-C Condition: not provided Retinitis pigmentosa 73 Mucopolysaccharidosis, MPS-III-C	Criteria Provided Single Submitter	CA114873	rs_121908286	4 SubmittersRCV000001297 RCV001723529 RCV001851534
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	SNV Germline	Chr12:88077263	Pathogenic/Likely pathogenic	Joubert syndrome 5 Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Meckel-Gruber syndrome Retinal dystrophy Retinitis pigmentosa Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 6 Leber congenital amaurosis Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 COG7 congenital disorder of glycosylation Abnormality of the nervous system Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150917	rs_137852832	31 SubmittersRCV000001396 RCV000086298 RCV000531295 RCV000114202 RCV001073790 RCV000787813 RCV000515339 RCV001261607 RCV001276487 RCV001000092 RCV001002714 RCV001815157 RCV001836688 RCV001542773 RCV001836689 RCV004798711 RCV003147273
NM_025114.4(CEP290):c.2991+1655A>G	SNV Germline	Chr12:88101183	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Condition: not provided Retinitis pigmentosa Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 1 Retinal dystrophy Intellectual disability Joubert syndrome 5 CEP290-related disorder Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227965	rs_281865192	25 SubmittersRCV000001400 RCV000086286 RCV000678535 RCV000558460 RCV000763315 RCV000988884 RCV001075828 RCV001255341 RCV001196010 RCV001731267 RCV001831503 RCV003460403
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)	SNV Germline	Chr14:88437565	Pathogenic/Likely pathogenic	Leber congenital amaurosis 3 Condition: not provided Retinitis pigmentosa 94, variable age at onset Leber congenital amaurosis Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA339895	rs_75895925	10 SubmittersRCV000001462 RCV001291573 RCV002260581 RCV003485517 RCV003887848
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)	SNV Germline	Chr17:6468237	Conflicting classifications of pathogenicity	Cone-rod dystrophy 5 not specified Condition: not provided Retinitis pigmentosa PITPNM3-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA234554	rs_76024428	11 SubmittersRCV000002071 RCV000153697 RCV000512878 RCV000787861 RCV003934792 RCV004814793
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter)	SNV Germline	Chr3:97788004	Pathogenic	Bardet-Biedl syndrome 3 Bardet-Biedl syndrome Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252067	rs_104893678	4 SubmittersRCV000002120 RCV001002871 RCV002512667 RCV004814794
NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)	SNV Germline	Chr3:97791797	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 1, modifier of Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA115313	rs_104893679	3 SubmittersRCV000002121 RCV000002122 RCV002512668 RCV005024988
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)	SNV Germline	Chr3:97768199	Pathogenic	Bardet-Biedl syndrome 3 Retinitis pigmentosa Retinitis pigmentosa 55 Bardet-Biedl syndrome 3 Condition: not provided Bardet-Biedl syndrome 1 Retinitis pigmentosa 55 Bardet-Biedl syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA252069	rs_104893680	5 SubmittersRCV000002123 RCV001723532 RCV001851573 RCV003133114 RCV005031381
NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)	SNV Germline	Chr3:97768199	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 Bardet-Biedl syndrome 1 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252073	rs_104893680	4 SubmittersRCV000002125 RCV001063683 RCV005024989 RCV004814795
NM_001278293.3(ARL6):c.266C>T (p.Ala89Val)	SNV Germline	Chr3:97784966	Likely pathogenic	Retinitis pigmentosa 55 Autosomal recessive retinitis pigmentosa	Criteria Provided Single Submitter	CA252075	rs_587777805	3 SubmittersRCV000002126 RCV001257838
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)	SNV Germline	Chr14:67726086	Pathogenic	Leber congenital amaurosis 13 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252083	rs_104894474	7 SubmittersRCV000002132 RCV000787672 RCV001091054 RCV004814797
NM_152443.3(RDH12):c.451C>G (p.His151Asp)	SNV Germline	Chr14:67726983	Pathogenic	Leber congenital amaurosis 13 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252087	rs_104894475	7 SubmittersRCV000002135 RCV000787674 RCV001171675 RCV004814798
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	SNV Germline	Chr14:67725206	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Condition: not provided Retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA252088	rs_28940315	19 SubmittersRCV000002136 RCV000594844 RCV000993758 RCV001075855 RCV001277202
NM_152443.3(RDH12):c.658+1G>A	SNV Germline	Chr14:67727191	Pathogenic	Leber congenital amaurosis 13 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA252091	rs_387906272	5 SubmittersRCV000002139 RCV001003155
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)	SNV Germline	Chr14:67726084	Pathogenic/Likely pathogenic	Retinitis pigmentosa 53 Retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis 13 Condition: not provided Leber congenital amaurosis RDH12-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA115315	rs_202126574	11 SubmittersRCV000002142 RCV000132691 RCV001073666 RCV001223788 RCV001558134 RCV003155010 RCV004734494
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)	SNV Germline	Chr8:10623069	Pathogenic/Likely pathogenic	Occult macular dystrophy Condition: not provided Retinal dystrophy Retinitis pigmentosa 88 Optic atrophy	Criteria Provided Multiple Submitters No Conflicts	CA115397	rs_267607017	17 SubmittersRCV000002277 RCV000726920 RCV001074376 RCV001197672 RCV004814802
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	SNV Germline	Chr1:216325492	Pathogenic	Usher syndrome type 2A Condition: not provided Usher syndrome Retinal dystrophy Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39	Reviewed By Expert Panel	CA252231	rs_121912599	12 SubmittersRCV000002449 RCV000303941 RCV001004780 RCV001074393 RCV000824798 RCV003460406 RCV005007808
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	SNV Germline	Chr1:216247118	Pathogenic	Retinitis pigmentosa 39 Retinitis pigmentosa Usher syndrome type 2A Condition: not provided Retinal dystrophy Usher syndrome USH2A-related disorder Inborn genetic diseases Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 39 Usher syndrome type 2A Ear malformation See cases	Reviewed By Expert Panel	CA252233	rs_80338902	48 SubmittersRCV000002450 RCV000032523 RCV000174625 RCV000239000 RCV000504814 RCV000505146 RCV000404009 RCV000623925 RCV001257905 RCV001535506 RCV001813938 RCV002251859
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	SNV Germline	Chr1:215728232	Pathogenic	Usher syndrome type 2A Retinitis pigmentosa 39 Congenital sensorineural hearing impairment Hearing impairment Condition: not provided Retinitis pigmentosa Rare genetic deafness Usher syndrome Usher syndrome type 2 Retinal dystrophy USH2A-related disorder Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 3A Usher syndrome See cases	Criteria Provided Multiple Submitters No Conflicts	CA252235	rs_111033364	35 SubmittersRCV000002451 RCV000412373 RCV000415089 RCV000414867 RCV000414231 RCV000504922 RCV000824781 RCV001003260 RCV001074873 RCV001813732 RCV002476913 RCV003314546 RCV003114173 RCV004584307
NM_206933.4(USH2A):c.949C>A (p.Arg317=)	SNV Germline	Chr1:216325499	Pathogenic	Usher syndrome type 2A Condition: not provided Pigmentary retinopathy Abnormal macular morphology Retinal pigment epithelial atrophy Rod-cone dystrophy Blindness Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39 Rare genetic deafness Retinal dystrophy Usher syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA252237	rs_111033272	20 SubmittersRCV000002452 RCV000412796 RCV000627017 RCV000763297 RCV000984234 RCV000824799 RCV001075725 RCV001199595
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	SNV Germline	Chr1:216324240	Pathogenic	Usher syndrome type 2A Condition: not provided Usher syndrome USH2A-related disorder Rare genetic deafness Retinitis pigmentosa 39 Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA252239	rs_121912600	23 SubmittersRCV000002453 RCV000224697 RCV000504809 RCV000778222 RCV000824795 RCV000984315 RCV001074823 RCV002482817
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)	SNV Germline	Chr1:216247185	Pathogenic	Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2 Rare genetic deafness	Criteria Provided Multiple Submitters No Conflicts	CA252242	rs_111033334	12 SubmittersRCV000002456 RCV000002457 RCV000725261 RCV001003279 RCV000824794
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)	SNV Germline	Chr1:215671085	Likely pathogenic	Retinitis pigmentosa 39 Retinitis pigmentosa Condition: not provided	Criteria Provided Single Submitter	CA252244	rs_80338904	4 SubmittersRCV000002458 RCV000032522 RCV001379272
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	SNV Germline	Chr2:181558617	Pathogenic/Likely pathogenic	Retinitis pigmentosa 26 Retinitis pigmentosa Retinal dystrophy Cone dystrophy Retinal pigment epithelial atrophy Condition: not provided Cone-rod dystrophy See cases CERKL-related disorder CERKL-related retinopathy	Criteria Provided Multiple Submitters No Conflicts	CA252246	rs_121909398	30 SubmittersRCV000002460 RCV000504646 RCV000504807 RCV000626731 RCV000725950 RCV000678538 RCV002251860 RCV003407259 RCV005357058
NM_144596.4(TTC8):c.489G>A (p.Thr163=)	SNV Germline	Chr14:88841196	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 8 Bardet-Biedl syndrome Retinitis pigmentosa 51 Truncal obesity Postaxial foot polydactyly Intellectual disability, moderate Retinal dystrophy TTC8-related disorder Retinitis pigmentosa 51 Bardet-Biedl syndrome 8 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339995	rs_119103286	12 SubmittersRCV000002639 RCV000203928 RCV001197566 RCV000415339 RCV001074706 RCV003415630 RCV005007809 RCV005434586
NM_144596.4(TTC8):c.115-2A>G	SNV Germline	Chr14:88833691	Likely pathogenic	Retinitis pigmentosa 51 Retinal dystrophy	Criteria Provided Single Submitter	CA339998	rs_587777809	2 SubmittersRCV000002641 RCV004794322
NM_004183.4(BEST1):c.140G>A (p.Arg47His)	SNV Germline	Chr11:61951946	Pathogenic/Likely pathogenic	Vitelliform macular dystrophy 2 Condition: not provided Retinal dystrophy Autosomal dominant vitreoretinochoroidopathy Autosomal recessive bestrophinopathy Retinitis pigmentosa 50 Vitelliform macular dystrophy 2	Criteria Provided Multiple Submitters No Conflicts	CA227724	rs_28940278	9 SubmittersRCV000002860 RCV000086086 RCV004814810 RCV004795367
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter)	SNV Germline	Chr11:61956960	Pathogenic	Autosomal recessive bestrophinopathy Condition: not provided Retinitis pigmentosa 50 Vitelliform macular dystrophy 2 Autosomal recessive bestrophinopathy Autosomal dominant vitreoretinochoroidopathy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA115725	rs_121918286	4 SubmittersRCV000002864 RCV001202565 RCV002490299 RCV004814811
NM_004183.4(BEST1):c.614T>C (p.Ile205Thr)	SNV Germline	Chr11:61956976	Pathogenic	Retinitis pigmentosa 50 Condition: not provided	Criteria Provided Single Submitter	CA252411	rs_267606680	2 SubmittersRCV000002870 RCV001382239
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)	SNV Germline	Chr11:61957432	Conflicting classifications of pathogenicity	Retinitis pigmentosa 50 Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA115732	rs_267606676	8 SubmittersRCV000002871 RCV000417725 RCV000787545 RCV001073474
NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys)	SNV Germline	Chr11:61957430	Pathogenic/Likely pathogenic	Vitelliform macular dystrophy 2 Retinitis pigmentosa 50 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115733	rs_267606677	4 SubmittersRCV000002873 RCV000002874 RCV000086158
NM_004183.4(BEST1):c.418C>G (p.Leu140Val)	SNV Germline	Chr11:61955888	Conflicting classifications of pathogenicity	Retinitis pigmentosa 50 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA252412	rs_267606678	4 SubmittersRCV000002875 RCV000726591 RCV000787540
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)	SNV Germline	Chr1:150344216	Pathogenic	Retinitis pigmentosa 18 Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252736	rs_121434241	10 SubmittersRCV000003516 RCV000726757 RCV001003129 RCV001074785
NM_004698.4(PRPF3):c.1477C>T (p.Pro493Ser)	SNV Germline	Chr1:150344212	Pathogenic	Retinitis pigmentosa 18 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252737	rs_121434242	4 SubmittersRCV000003517 RCV001565464 RCV004814816
NM_004698.4(PRPF3):c.1466C>A (p.Ala489Asp)	SNV Germline	Chr1:150344201	Pathogenic	Retinitis pigmentosa 18	No Assertion Criteria Provided	CA252738	rs_121434243	1 SubmittersRCV000003518
NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg)	SNV Germline	Chr17:1650884	Pathogenic	Retinitis pigmentosa 13 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252740	rs_121434236	3 SubmittersRCV000003519 RCV001073694 RCV001385146
NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro)	SNV Germline	Chr17:1650884	Pathogenic/Likely pathogenic	Retinitis pigmentosa 13 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252741	rs_121434236	3 SubmittersRCV000003520 RCV001073295
NM_006445.4(PRPF8):c.6929G>A (p.Arg2310Lys)	SNV Germline	Chr17:1650881	Pathogenic	Retinitis pigmentosa 13 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252742	rs_121434238	3 SubmittersRCV000003521 RCV001074988 RCV001851617
NM_006445.4(PRPF8):c.6901C>A (p.Pro2301Thr)	SNV Germline	Chr17:1650909	Likely pathogenic	Retinitis pigmentosa 13 Condition: not provided	Criteria Provided Single Submitter	CA252743	rs_121434239	2 SubmittersRCV000003522 RCV001242192
NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu)	SNV Germline	Chr17:1650898	Pathogenic/Likely pathogenic	Retinitis pigmentosa 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252744	rs_121434240	3 SubmittersRCV000003523 RCV001268615
NM_022367.4(SEMA4A):c.1049T>G (p.Phe350Cys)	SNV Germline	Chr1:156163009	Pathogenic	Cone-rod dystrophy 10 Retinitis pigmentosa 35	No Assertion Criteria Provided	CA116162	rs_267607034	1 SubmittersRCV000003527 RCV000003526
NM_016247.4(IMPG2):c.635C>G (p.Ser212Ter)	SNV Germline	Chr3:101275694	Pathogenic	Retinitis pigmentosa 56 Retinitis pigmentosa	No Assertion Criteria Provided	CA252810	rs_267606874	2 SubmittersRCV000003724 RCV001003056
NM_016247.4(IMPG2):c.2716C>T (p.Arg906Ter)	SNV Germline	Chr3:101243615	Pathogenic	Retinitis pigmentosa 56 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252813	rs_267606876	6 SubmittersRCV000003726 RCV001207781 RCV003887851
NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter)	SNV Germline	Chr3:101242820	Pathogenic	Retinitis pigmentosa 56 Macular dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252815	rs_267606875	4 SubmittersRCV000003727 RCV000787843 RCV001053603 RCV003887852
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu)	SNV Germline	Chr3:101304277	Conflicting classifications of pathogenicity	Vitelliform macular dystrophy 5 Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 56 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA116343	rs_201893545	5 SubmittersRCV000003728 RCV001053107 RCV001003057 RCV004786236 RCV004814820
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	SNV Germline	Chr1:46192397	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy Retinal dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA116547	rs_28940869	12 SubmittersRCV000150001 RCV000984302 RCV000984210 RCV000984301 RCV000984303 RCV001219572 RCV002222337 RCV001847573 RCV002512738 RCV004814821 RCV005025002
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)	SNV Germline	Chr1:46197018	Pathogenic	Retinitis pigmentosa 76 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA116550	rs_193919337	7 SubmittersRCV000240891 RCV001529546 RCV001390610 RCV001847575 RCV004566681 RCV005016236
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	SNV Germline	Chr1:46189973	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O not specified Muscle eye brain disease Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Structural eye disease	Criteria Provided Conflicting Classifications	CA116557	rs_74374973	15 SubmittersRCV000004204 RCV000081801 RCV000671438 RCV000710195 RCV001082774 RCV001097781 RCV001579237 RCV001449938 RCV001579238 RCV005400692
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)	SNV Germline	Chr1:46192168	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy POMGNT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116564	rs_267606960	11 SubmittersRCV000004207 RCV000411094 RCV000798530 RCV001091843 RCV002476922 RCV003460424 RCV002512742 RCV004532285
NM_015629.4(PRPF31):c.646G>C (p.Ala216Pro)	SNV Germline	Chr19:54123867	Pathogenic	Retinitis pigmentosa 11	No Assertion Criteria Provided	CA253133	rs_119475042	1 SubmittersRCV000004607
NM_015629.4(PRPF31):c.527+3A>G	SNV Germline	Chr19:54123563	Pathogenic/Likely pathogenic	Retinitis pigmentosa 11 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253135	rs_587776590	4 SubmittersRCV000004608 RCV001073395 RCV001851647
NM_015629.4(PRPF31):c.581C>A (p.Ala194Glu)	SNV Germline	Chr19:54123802	Pathogenic	Retinitis pigmentosa 11	No Assertion Criteria Provided	CA253137	rs_119475043	1 SubmittersRCV000004610
NM_015629.4(PRPF31):c.1374+654C>G	SNV Germline	Chr19:54130024	Pathogenic	Retinitis pigmentosa 11 Condition: not provided	Criteria Provided Single Submitter	CA253139	rs_587776591	2 SubmittersRCV000004614 RCV001092520
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)	SNV Germline	Chr3:150928107	Pathogenic/Likely pathogenic	Usher syndrome type 3 Condition: not provided Hearing impairment Retinitis pigmentosa Retinitis pigmentosa 61 Retinitis pigmentosa 61 Usher syndrome type 3A Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA000001	rs_121908140	14 SubmittersRCV000004642 RCV000724158 RCV001375084 RCV002247246 RCV003466811 RCV002496258
NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro)	SNV Germline	Chr3:150928186	Likely pathogenic	Usher syndrome type 3 Retinitis pigmentosa 61	Criteria Provided Single Submitter	CA116829	rs_121908142	2 SubmittersRCV000004646 RCV003466813
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)	SNV Germline	Chr3:150972520	Pathogenic	Usher syndrome type 3 Retinitis pigmentosa Rare genetic deafness CLRN1-related disorder Usher syndrome type 3A Condition: not provided Retinitis pigmentosa 61 Retinitis pigmentosa 61 Usher syndrome type 3A	Criteria Provided Multiple Submitters No Conflicts	CA116834	rs_111033267	12 SubmittersRCV000004647 RCV000505037 RCV000844690 RCV003407275 RCV001376502 RCV001384937 RCV003466814 RCV005031388
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)	SNV Germline	Chr3:150972591	Conflicting classifications of pathogenicity	Usher syndrome type 3 Condition: not provided Usher syndrome type 3A Usher syndrome CLRN1-related disorder Retinal dystrophy Retinitis pigmentosa 61 Retinitis pigmentosa 61 Usher syndrome type 3A	Criteria Provided Conflicting Classifications	CA116839	rs_121908143	14 SubmittersRCV000004649 RCV000414238 RCV001273484 RCV002468960 RCV004754242 RCV001075346 RCV003466815 RCV005031389
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)	SNV Germline	Chr20:3918695	Pathogenic	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Pigmentary pallidal degeneration Inborn genetic diseases Condition: not provided Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Retinitis pigmentosa Pigmentary pallidal degeneration Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA116915	rs_137852959	19 SubmittersRCV000132732 RCV000004807 RCV000190815 RCV000224470 RCV004766980 RCV001588799 RCV002496261
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)	SNV Germline	Chr16:56514574	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome Retinitis pigmentosa 74 Bardet-Biedl syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA253233	rs_121908174	6 SubmittersRCV000004831 RCV001002877 RCV005411280
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)	SNV Germline	Chr16:56519791	Pathogenic/Likely pathogenic	BARDET-BIEDL SYNDROME 2/6, DIGENIC Bardet-Biedl syndrome 2 Bardet-Biedl syndrome Retinal dystrophy Retinitis pigmentosa Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 BBS2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116926	rs_121908175	11 SubmittersRCV000004832 RCV000412476 RCV000589350 RCV001074960 RCV000787792 RCV000762970 RCV004732529
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)	SNV Germline	Chr16:56514623	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253235	rs_121908176	9 SubmittersRCV000004833 RCV000587533 RCV002490314 RCV003441704
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	SNV Germline	Chr16:56502790	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome Condition: not provided Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 Retinal dystrophy Retinitis pigmentosa 74 BBS2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253237	rs_121908177	16 SubmittersRCV000004834 RCV000269226 RCV000493074 RCV000762967 RCV001074104 RCV002466394 RCV004528072
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)	SNV Germline	Chr16:56502454	Pathogenic/Likely pathogenic	Bardet-biedl syndrome 2/4, digenic Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Retinal dystrophy Autosomal recessive retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA116928	rs_121908178	8 SubmittersRCV000004835 RCV001226053 RCV000675099 RCV005016240 RCV003887853 RCV001257834
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	SNV Germline	Chr16:56514487	Pathogenic	Bardet-biedl syndrome 1/2, digenic Bardet-Biedl syndrome Retinitis pigmentosa 74 Retinitis pigmentosa Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 BBS2-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA116932	rs_121908179	12 SubmittersRCV000004839 RCV000587645 RCV000190985 RCV001002876 RCV000665304 RCV000762969 RCV004532290 RCV001582466
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	SNV Germline	Chr16:56496982	Pathogenic	Bardet-Biedl syndrome 2 BBS2-related disorder Retinitis pigmentosa 74 Retinitis pigmentosa Retinal dystrophy Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA060272	rs_138043021	18 SubmittersRCV000004840 RCV000380902 RCV000190986 RCV001002874 RCV001073916 RCV000589221 RCV001268711 RCV002490315 RCV002512776
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)	SNV Germline	Chr16:56506191	Pathogenic	BARDET-BIEDL SYNDROME 2/6, DIGENIC Retinal dystrophy Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 2 Retinitis pigmentosa 74	Criteria Provided Multiple Submitters No Conflicts	CA116935	rs_121908180	10 SubmittersRCV000004845 RCV000787791 RCV001056084 RCV000668482 RCV005016241
NM_006343.3(MERTK):c.1605-2A>G	SNV Germline	Chr2:112001199	Pathogenic	Retinitis pigmentosa 38 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA253473	rs_730880273	3 SubmittersRCV000005732 RCV001071534 RCV001073657
NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter)	SNV Germline	Chr2:112008466	Pathogenic	Retinitis pigmentosa 38 Retinitis pigmentosa Autosomal recessive retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA253474	rs_119489105	5 SubmittersRCV000005733 RCV001723542 RCV001257901 RCV001054980 RCV004814840
NM_006343.3(MERTK):c.2189+1G>T	SNV Germline	Chr2:112019523	Pathogenic	Retinitis pigmentosa 38 Inborn genetic diseases Retinal dystrophy Autosomal recessive retinitis pigmentosa Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA253476	rs_371956016	10 SubmittersRCV000005734 RCV000624145 RCV001073654 RCV001257903 RCV001208965 RCV003324483
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)	SNV Germline	Chr15:71811590	Pathogenic/Likely pathogenic	Enhanced S-cone syndrome Condition: not provided Retinal dystrophy Retinitis pigmentosa NR2E3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA117571	rs_104894492	8 SubmittersRCV000005866 RCV001048873 RCV003887854 RCV003323352 RCV004732530
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)	SNV Germline	Chr15:71811591	Pathogenic/Likely pathogenic	Enhanced S-cone syndrome NR2E3-related disorder Retinitis pigmentosa 37 Enhanced S-cone syndrome Retinal dystrophy Condition: not provided Goldmann-Favre syndrome Retinitis pigmentosa 37	Criteria Provided Multiple Submitters No Conflicts	CA117573	rs_104894493	22 SubmittersRCV000005867 RCV000261496 RCV000668029 RCV001075864 RCV001045323 RCV001449793 RCV004786237
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	SNV Germline	Chr15:71813573	Pathogenic/Likely pathogenic	Enhanced S-cone syndrome Goldmann-Favre syndrome Condition: not provided NR2E3-related disorder Retinitis pigmentosa Retinitis pigmentosa 37 Enhanced S-cone syndrome Autosomal recessive retinitis pigmentosa Enhanced S-cone syndrome NR2E3-related disorder Retinal dystrophy Retinitis pigmentosa 37	Criteria Provided Multiple Submitters No Conflicts	CA117575	rs_28937873	25 SubmittersRCV000005869 RCV000005870 RCV000171240 RCV000393548 RCV000787633 RCV000668086 RCV001257807 RCV001095701 RCV001074891 RCV001374877
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)	SNV Germline	Chr15:71811530	Pathogenic/Likely pathogenic	Retinitis pigmentosa 37 Retinal dystrophy Retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253522	rs_121912631	13 SubmittersRCV000005871 RCV001075751 RCV000787628 RCV000286602
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)	SNV Germline	Chr17:6425781	Pathogenic	Leber congenital amaurosis 4 Condition: not provided AIPL1-related disorder Leber congenital amaurosis Retinal dystrophy Leber congenital amaurosis 4 Retinitis pigmentosa AIPL1-related retinopathy	Criteria Provided Multiple Submitters No Conflicts	CA227899	rs_62637014	30 SubmittersRCV000005906 RCV000086235 RCV000365317 RCV000505017 RCV001074840 RCV002496274 RCV004786238
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter)	SNV Germline	Chr4:15994028	Pathogenic	Retinitis pigmentosa 41 Retinitis pigmentosa Retinal dystrophy	Criteria Provided Single Submitter	CA253536	rs_137853005	4 SubmittersRCV000005959 RCV000504792 RCV000210292
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	SNV Germline	Chr4:16013299	Pathogenic/Likely pathogenic	Stargardt disease 4 Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Condition: not provided Retinal dystrophy Macular dystrophy Stargardt disease Retinitis pigmentosa Retinitis pigmentosa 41 Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Stargardt disease 4	Criteria Provided Multiple Submitters No Conflicts	CA117645	rs_137853006	20 SubmittersRCV000005960 RCV000005961 RCV000005962 RCV000479499 RCV000504765 RCV000787649 RCV000787648 RCV001723543 RCV002496275
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)	SNV Germline	Chr1:197434985	Pathogenic	Retinitis pigmentosa 12 Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy CRB1-related disorder Retinal dystrophy Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA228031	rs_62635656	11 SubmittersRCV000006084 RCV000086336 RCV001045972 RCV001250615 RCV003450614 RCV004528086 RCV001075294 RCV005007827
NM_201253.3(CRB1):c.2983G>T (p.Glu995Ter)	SNV Germline	Chr1:197434846	Pathogenic	Retinitis pigmentosa 12 Condition: not provided	No Assertion Criteria Provided	CA228028	rs_62635655	4 SubmittersRCV000006085 RCV000086334
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	SNV Germline	Chr1:197427615	Pathogenic/Likely pathogenic	Retinitis pigmentosa 12 Condition: not provided Retinal dystrophy Leber congenital amaurosis 8 Retinitis pigmentosa Leber congenital amaurosis 8 Retinitis pigmentosa 12 Macular dystrophy CRB1-related maculopathy Retinitis pigmentosa-deafness syndrome Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 CRB1-related disorder Pigmented paravenous retinochoroidal atrophy Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA228006	rs_62635654	25 SubmittersRCV000006086 RCV000086317 RCV001074882 RCV001250604 RCV000787577 RCV001052374 RCV000656137 RCV001352991 RCV003447471 RCV002496279 RCV004540990 RCV003450615 RCV005417417
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	SNV Germline	Chr1:197427559	Pathogenic/Likely pathogenic	Retinitis pigmentosa 12 Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis pigmentosa Leber congenital amaurosis 8 Retinal dystrophy Autosomal recessive retinitis pigmentosa Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy	Criteria Provided Multiple Submitters No Conflicts	CA228003	rs_28939720	25 SubmittersRCV000006087 RCV000086315 RCV000809110 RCV000787576 RCV001250601 RCV001074789 RCV001257864 RCV001196030 RCV001826422 RCV002496280
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)	SNV Germline	Chr1:197435162	Likely pathogenic	Leber congenital amaurosis 8 Condition: not provided Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8	Criteria Provided Single Submitter	CA117707	rs_62635659	3 SubmittersRCV000006088 RCV000086340 RCV002490326
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)	SNV Germline	Chr1:197427726	Pathogenic	Retinitis pigmentosa 12 Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinal dystrophy Leber congenital amaurosis 8 Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy CRB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA203531	rs_137853137	16 SubmittersRCV000006090 RCV000578757 RCV000691427 RCV000787826 RCV001250606 RCV000787578 RCV001275651 RCV002504753 RCV003450616 RCV004739293
NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg)	SNV Germline	Chr1:197435404	Likely pathogenic	Retinitis pigmentosa 12 Condition: not provided Retinal dystrophy Leber congenital amaurosis	Criteria Provided Single Submitter	CA228041	rs_62636291	4 SubmittersRCV000006091 RCV000086346 RCV004814842 RCV005614367
NM_201253.3(CRB1):c.484G>A (p.Val162Met)	SNV Germline	Chr1:197328835	Conflicting classifications of pathogenicity	Pigmented paravenous retinochoroidal atrophy not specified Retinitis pigmentosa Leber congenital amaurosis 8 Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA117710	rs_137853138	8 SubmittersRCV000006092 RCV000082821 RCV000353078 RCV000262530 RCV000723716 RCV001080229
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)	SNV Germline	Chr1:197435170	Pathogenic	Leber congenital amaurosis 8 Retinitis pigmentosa 12 Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis Retinal dystrophy Pigmented paravenous retinochoroidal atrophy Early-onset retinal dystrophy Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA117711	rs_62636275	15 SubmittersRCV000006093 RCV000006094 RCV000086341 RCV000648818 RCV001002998 RCV001073404 RCV003450617 RCV000786009 RCV005007828
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)	SNV Germline	Chr8:54625911	Pathogenic	Retinitis pigmentosa 1 Condition: not provided Retinal dystrophy RP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253665	rs_104894082	14 SubmittersRCV000006329 RCV000255140 RCV001074787 RCV004754249
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter)	SNV Germline	Chr8:54625917	Pathogenic/Likely pathogenic	Retinitis pigmentosa 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253667	rs_104894083	4 SubmittersRCV000006332 RCV001851696
NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro)	SNV Germline	Chr6:35503623	Pathogenic	Condition: not provided Retinitis pigmentosa 14	Criteria Provided Single Submitter	CA227700	rs_121909073	3 SubmittersRCV000086066 RCV000007782
NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys)	SNV Germline	Chr6:35500100	Likely pathogenic	Retinitis pigmentosa 14 Condition: not provided Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA254155	rs_121909075	3 SubmittersRCV000007784 RCV002512878 RCV005406730
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)	SNV Germline	Chr6:35503816	Pathogenic	Retinitis pigmentosa 14 Retinitis pigmentosa Retinal dystrophy Condition: not provided Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA254156	rs_121909076	6 SubmittersRCV000007787 RCV000132649 RCV003887856 RCV002512879 RCV005430923
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp)	SNV Germline	Chr6:35500032	Conflicting classifications of pathogenicity	Retinitis pigmentosa 14 Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA254157	rs_121909077	4 SubmittersRCV000007788 RCV001386009 RCV005237358
NM_003322.6(TULP1):c.718+2T>C	SNV Germline	Chr6:35509632	Pathogenic	Retinitis pigmentosa 14 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA363781586	rs_1581742970	3 SubmittersRCV000007790 RCV003555962 RCV004814855
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg)	SNV Germline	Chr6:42185686	Conflicting classifications of pathogenicity	Retinitis pigmentosa 48 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA232839	rs_121909124	5 SubmittersRCV000007794 RCV000132648 RCV003887857
NM_000554.6(CRX):c.121C>T (p.Arg41Trp)	SNV Germline	Chr19:47836263	Pathogenic/Likely pathogenic	Cone-rod dystrophy 2 Condition: not provided Cone-rod dystrophy 2 Leber congenital amaurosis 7 Retinal dystrophy Cone-rod dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA118790	rs_104894672	14 SubmittersRCV000007843 RCV000085989 RCV001386169 RCV001073396 RCV003324484 RCV003324485
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)	SNV Germline	Chr10:13283695	Pathogenic/Likely pathogenic	REFSUM DISEASE, ADULT, 1 Condition: not provided Retinitis pigmentosa Inborn genetic diseases Phytanic acid storage disease	Criteria Provided Multiple Submitters No Conflicts	CA118904	rs_104894178	14 SubmittersRCV000008018 RCV000255609 RCV000505105 RCV002426496 RCV000665657
NM_006214.4(PHYH):c.135-2A>G	SNV Germline	Chr10:13295608	Pathogenic	REFSUM DISEASE, ADULT, 1 Phytanic acid storage disease Condition: not provided Retinitis pigmentosa PHYH-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA212871	rs_201578674	12 SubmittersRCV000008019 RCV000660487 RCV000599568 RCV001723551 RCV003407301 RCV004814858
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	SNV Germline	Chr1:94051698	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Condition: not provided Peripheral neuropathy Abnormal macular morphology Retinal dystrophy Inborn genetic diseases Retinitis pigmentosa Stargardt disease Cone-rod dystrophy Age related macular degeneration 2 Age-related macular degeneration Retinitis pigmentosa 19 Cone-rod dystrophy 3 Retinitis pigmentosa 19 ABCA4-related disorder Stargardt disease 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA119128	rs_76157638	36 SubmittersRCV000008328 RCV000008329 RCV000085494 RCV000415097 RCV000505063 RCV000623365 RCV000787487 RCV000787486 RCV000787768 RCV001198385 RCV001535670 RCV003224856 RCV004532312 RCV004558239 RCV005025029 RCV005357096
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	SNV Germline	Chr1:94047046	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease Retinal dystrophy not specified Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA227031	rs_58331765	14 SubmittersRCV000008330 RCV000085506 RCV001002838 RCV001073603 RCV002247267 RCV001807722 RCV005025030 RCV004732538
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	SNV Germline	Chr1:94005509	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Retinal dystrophy Stargardt disease Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA119129	rs_61751408	17 SubmittersRCV000008332 RCV000008333 RCV000085785 RCV000763438 RCV001074885 RCV000826132 RCV002247268
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	SNV Germline	Chr1:94001992	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive not specified Stargardt Disease, Recessive Macular degeneration Cone dystrophy ABCA4-related disorder Retinitis pigmentosa Retinal dystrophy Stargardt disease Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA220688	rs_41292677	20 SubmittersRCV000008335 RCV000078671 RCV000285333 RCV000393715 RCV000259072 RCV000340261 RCV000393726 RCV000504806 RCV000778139 RCV000787769 RCV001075661 RCV002470704 RCV004783720
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)	SNV Germline	Chr1:94043420	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA227082	rs_61750061	5 SubmittersRCV000008337 RCV000085548 RCV003398468 RCV004795382
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	SNV Germline	Chr1:94008251	Pathogenic/Likely pathogenic/Pathogenic, low penetrance	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Condition: not provided ABCA4-related disorder Macular dystrophy Retinal dystrophy Age related macular degeneration 2 Inborn genetic diseases Stargardt disease Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 not specified Retinitis pigmentosa ABCA4-related retinopathy See cases Cone dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Syndromic retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA119132	rs_1800553	56 SubmittersRCV000008340 RCV000008341 RCV000008339 RCV000078670 RCV000273328 RCV000504952 RCV000505149 RCV000678513 RCV000624210 RCV000787514 RCV001254602 RCV001542557 RCV001731281 RCV002247269 RCV003324710 RCV004584319 RCV005417422 RCV005031424 RCV005417423
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	SNV Germline	Chr1:94043413	Pathogenic/Likely pathogenic	Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Macular dystrophy Stargardt disease Retinitis pigmentosa ABCA4-related disorder not specified Age related macular degeneration 2 Optic atrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA119135	rs_61751374	32 SubmittersRCV000008350 RCV000008348 RCV000085549 RCV000505109 RCV000763046 RCV000787495 RCV000787493 RCV000787494 RCV000778259 RCV001000014 RCV001196125 RCV004814860 RCV005357097
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	SNV Germline	Chr1:94098928	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Cone-rod dystrophy 3 Stargardt disease Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA203216	rs_61750200	21 SubmittersRCV000008355 RCV000085812 RCV000179293 RCV000787521 RCV000763050 RCV001074780 RCV004558240
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)	SNV Germline	Chr1:94063157	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA226918	rs_61748559	9 SubmittersRCV000008357 RCV000085416 RCV001074326 RCV005031425
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	SNV Germline	Chr1:94063250	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa Stargardt disease Macular dystrophy not specified Age related macular degeneration 2 ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA226911	rs_61751392	26 SubmittersRCV000085410 RCV000408513 RCV000505133 RCV000504750 RCV000787481 RCV000787482 RCV001002385 RCV001196126 RCV004528784
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	SNV Germline	Chr1:94031110	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Condition: not provided Mandibulofacial dysostosis with mental deficiency Stargardt disease Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Retinal dystrophy Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA129033	rs_61750130	24 SubmittersRCV000008362 RCV000023139 RCV000078666 RCV000454310 RCV000787498 RCV000763044 RCV000778258 RCV001075868 RCV004786246
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	SNV Germline	Chr1:94005500	Pathogenic/Likely pathogenic	Retinal dystrophy, early-onset severe Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Stargardt disease Retinitis pigmentosa 19 ABCA4-related retinopathy Leber congenital amaurosis 14 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119140	rs_61751383	22 SubmittersRCV000008365 RCV000085786 RCV000504794 RCV000505162 RCV000763437 RCV000787773 RCV001542555 RCV002512903 RCV003447472 RCV004528093
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)	SNV Germline	Chr1:94014665	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided not specified Optic atrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA340713	rs_121909207	10 SubmittersRCV000008373 RCV001073346 RCV000994036 RCV003317029 RCV004814862 RCV005025031
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)	SNV Germline	Chr1:94047009	Conflicting classifications of pathogenicity	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Severe early-childhood-onset retinal dystrophy Condition: not provided not specified Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Macular degeneration Stargardt Disease, Recessive Stargardt disease ABCA4-related disorder Retinal dystrophy Stargardt disease 3 ABCA4-related retinopathy	Criteria Provided Conflicting Classifications	CA119146	rs_1801581	18 SubmittersRCV000008374 RCV000008375 RCV000085512 RCV000152706 RCV000349295 RCV000392936 RCV000294335 RCV000399411 RCV001002837 RCV001101950 RCV003887858 RCV004558243 RCV005364873
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)	SNV Germline	Chr2:96287968	Pathogenic	Retinitis pigmentosa 33 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA254265	rs_267607077	9 SubmittersRCV000008390 RCV000505052 RCV001091895 RCV001075824
NM_001297.5(CNGB1):c.2978G>T (p.Gly993Val)	SNV Germline	Chr16:57897913	Pathogenic	Retinitis pigmentosa 45	No Assertion Criteria Provided	CA254576	rs_121918532	1 SubmittersRCV000009448
NM_001297.5(CNGB1):c.3462+1G>A	SNV Germline	Chr16:57887854	Pathogenic	Retinitis pigmentosa 45	No Assertion Criteria Provided	CA396061610	rs_1567360969	1 SubmittersRCV000009449
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)	SNV Germline	Chr1:40092409	Pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided Retinitis pigmentosa Inborn genetic diseases PPT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA254577	rs_137852696	13 SubmittersRCV000009451 RCV000188709 RCV001723555 RCV002426497 RCV003407309
NM_000370.3(TTPA):c.303T>G (p.His101Gln)	SNV Germline	Chr8:63072990	Pathogenic/Likely pathogenic	Ataxia and retinitis pigmentosa with isolated vitamin E deficiency Familial isolated deficiency of vitamin E	Criteria Provided Multiple Submitters No Conflicts	CA120135	rs_121917849	4 SubmittersRCV000009708 RCV000055795
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)	SNV Germline	Chr10:84247707	Conflicting classifications of pathogenicity	Retinitis pigmentosa 44 Cone dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA241383	rs_104894187	7 SubmittersRCV000009759 RCV000626831 RCV000175649 RCV004814868
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	SNV Germline	Chr17:8014701	Pathogenic/Likely pathogenic	Cone-rod dystrophy 6 Condition: not provided Retinal dystrophy Progressive cone dystrophy (without rod involvement) Leber congenital amaurosis 1 Cone-rod dystrophy 6 Cone dystrophy Retinitis pigmentosa Macular dystrophy Visual impairment Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226086	rs_61750173	20 SubmittersRCV000009951 RCV000084863 RCV000504851 RCV000787614 RCV001228516 RCV001003043 RCV001723556 RCV001271114 RCV003324497
NC_012920.1(MT-TS2):m.12258C>A	SNV Germline	ChrMT:12258	Likely pathogenic	Cerebellar ataxia, cataract, and diabetes mellitus Retinitis pigmentosa-deafness syndrome Mitochondrial disease	Reviewed By Expert Panel	CA120544	rs_118203888	2 SubmittersRCV000010170 RCV000010171 RCV003162227
NM_001034853.2(RPGR):c.703C>T (p.Pro235Ser)	SNV Germline	ChrX:38310690	Pathogenic	Condition: not provided Retinitis pigmentosa 3	No Assertion Criteria Provided	CA226435	rs_62638651	2 SubmittersRCV000085116 RCV000010576
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)	SNV Germline	ChrX:38304746	Pathogenic	Retinitis pigmentosa 3 Condition: not provided Retinitis pigmentosa Primary ciliary dyskinesia RPGR-related retinopathy	Reviewed By Expert Panel	CA226447	rs_62642057	5 SubmittersRCV000010577 RCV000085125 RCV001003203 RCV002512961 RCV005415397
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val)	SNV Germline	ChrX:38322921	Likely pathogenic	Retinitis pigmentosa 3 Condition: not provided Primary ciliary dyskinesia Retinal dystrophy RPGR-related disorder RPGR-related retinopathy	Reviewed By Expert Panel	CA226376	rs_62638634	8 SubmittersRCV000010580 RCV000085072 RCV000822760 RCV001074755 RCV004755727 RCV005415398
NM_001034853.2(RPGR):c.296C>A (p.Thr99Asn)	SNV Germline	ChrX:38321041	Pathogenic	Retinitis pigmentosa 3 Condition: not provided	No Assertion Criteria Provided	CA226407	rs_62638637	2 SubmittersRCV000010584 RCV000085096
NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter)	SNV Germline	ChrX:38286349	Pathogenic	Retinitis pigmentosa 3 Condition: not provided Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA254931	rs_137852549	3 SubmittersRCV000010586 RCV002464059 RCV003534308
NM_001034853.2(RPGR):c.469+1G>T	SNV Germline	ChrX:38318828	Pathogenic	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness Condition: not provided	No Assertion Criteria Provided	CA412744987	rs_62638646	3 SubmittersRCV000010590 RCV001698940
NM_001034853.2(RPGR):c.517G>C (p.Gly173Arg)	SNV Germline	ChrX:38317418	Pathogenic	Condition: not provided RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS	Criteria Provided Single Submitter	CA120805	rs_137852550	2 SubmittersRCV003128227 RCV003151715
NM_006915.3(RP2):c.76C>T (p.Gln26Ter)	SNV Germline	ChrX:46837176	Pathogenic	Retinitis pigmentosa 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255299	rs_104894925	3 SubmittersRCV000011291 RCV000657655
NM_006915.3(RP2):c.353G>A (p.Arg118His)	SNV Germline	ChrX:46853726	Pathogenic/Likely pathogenic	Retinitis pigmentosa 2 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255301	rs_28933687	7 SubmittersRCV000011292 RCV001075110 RCV001215347
NM_006915.3(RP2):c.453C>G (p.Tyr151Ter)	SNV Germline	ChrX:46853826	Pathogenic	Retinitis pigmentosa 2	No Assertion Criteria Provided	CA255302	rs_104894926	1 SubmittersRCV000011293
NM_006915.3(RP2):c.353G>T (p.Arg118Leu)	SNV Germline	ChrX:46853726	Pathogenic	Retinitis pigmentosa 2	No Assertion Criteria Provided	CA255304	rs_28933687	1 SubmittersRCV000011295
NM_006915.3(RP2):c.358C>T (p.Arg120Ter)	SNV Germline	ChrX:46853731	Pathogenic	Retinitis pigmentosa 2 Retinal dystrophy Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA255305	rs_104894927	11 SubmittersRCV000011297 RCV000504994 RCV001047806 RCV000787701
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)	SNV Germline	Chr11:77142783	Pathogenic	Usher syndrome type 1B Rare genetic deafness Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Retinitis pigmentosa Hearing loss, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277965	rs_35689081	8 SubmittersRCV000012634 RCV000154341 RCV000665804 RCV000787856 RCV001291462 RCV001226256
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	SNV Germline	Chr11:66526181	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 1 Condition: not provided Bardet-Biedl syndrome Retinal dystrophy Retinitis pigmentosa Usher syndrome See cases BBS1-related disorder Inborn genetic diseases Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA223760	rs_113624356	54 SubmittersRCV000012926 RCV000082202 RCV000174408 RCV000210319 RCV000504693 RCV000787785 RCV002251900 RCV003390672 RCV002513000 RCV005621849
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)	SNV Germline	Chr11:66531692	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome Condition: not provided Retinitis pigmentosa Inborn genetic diseases BBS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256226	rs_121917777	11 SubmittersRCV000012927 RCV000169202 RCV001008645 RCV001723562 RCV002513001 RCV003934827
NM_000539.3(RHO):c.68C>A (p.Pro23His)	SNV Germline	Chr3:129528801	Pathogenic	Retinitis pigmentosa 4 Condition: not provided Retinal dystrophy Pigmentary retinal dystrophy Retinitis pigmentosa 4 Congenital stationary night blindness autosomal dominant 1 RHO-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256661	rs_104893768	8 SubmittersRCV000013887 RCV000490234 RCV001075876 RCV000763095 RCV004755731
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	SNV Germline	Chr3:129533711	Pathogenic/Likely pathogenic	Retinitis pigmentosa 4 Condition: not provided Retinitis pigmentosa Blurred vision Peripheral visual field loss Night blindness Retinal dystrophy RHO-related disorder Microcephaly 17, primary, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA256662	rs_29001566	19 SubmittersRCV000013888 RCV000490027 RCV000504743 RCV000626702 RCV001075874 RCV004755732 RCV003989284
NM_000539.3(RHO):c.1039C>T (p.Pro347Ser)	SNV Germline	Chr3:129533710	Pathogenic	Retinitis pigmentosa 4 Retinal dystrophy	Criteria Provided Single Submitter	CA256663	rs_29001637	2 SubmittersRCV000013889 RCV003887861
NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	SNV Germline	Chr3:129528906	Pathogenic/Likely pathogenic	Retinitis pigmentosa 4 Retinal dystrophy Condition: not provided RHO-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256664	rs_28933394	10 SubmittersRCV000013890 RCV001074373 RCV001384460 RCV004755733
NM_000539.3(RHO):c.50C>T (p.Thr17Met)	SNV Germline	Chr3:129528783	Pathogenic	Retinitis pigmentosa 4 Retinitis pigmentosa not specified Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256665	rs_104893769	11 SubmittersRCV000013892 RCV000787682 RCV001002098 RCV001075619 RCV001090660
NM_000539.3(RHO):c.260T>A (p.Val87Asp)	SNV Germline	Chr3:129528993	Likely pathogenic	Retinitis pigmentosa 4 Pigmentary retinal dystrophy	Criteria Provided Single Submitter	CA256667	rs_104893771	2 SubmittersRCV000013894 RCV001198366
NM_000539.3(RHO):c.266G>A (p.Gly89Asp)	SNV Germline	Chr3:129528999	Pathogenic	Retinitis pigmentosa 4 Retinitis pigmentosa Condition: not provided Pigmentary retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256668	rs_104893772	7 SubmittersRCV000013895 RCV001003167 RCV001213959 RCV001813740 RCV004814892
NM_000539.3(RHO):c.316G>T (p.Gly106Trp)	SNV Germline	Chr3:129529049	Pathogenic/Likely pathogenic	Retinitis pigmentosa 4 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256669	rs_104893773	3 SubmittersRCV000013896 RCV001073422 RCV001857345
NM_000539.3(RHO):c.568G>A (p.Asp190Asn)	SNV Germline	Chr3:129532288	Pathogenic/Likely pathogenic	Retinitis pigmentosa 4 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256670	rs_104893779	8 SubmittersRCV000013897 RCV001056948 RCV003887862
NM_000539.3(RHO):c.404G>T (p.Arg135Leu)	SNV Germline	Chr3:129530918	Pathogenic	Retinitis pigmentosa 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256671	rs_104893774	4 SubmittersRCV000013898 RCV000256085
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)	SNV Germline	Chr3:129532253	Pathogenic/Likely pathogenic	Retinitis pigmentosa 4 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256672	rs_104893776	8 SubmittersRCV000013899 RCV000787683 RCV001229671 RCV004814893
NM_000539.3(RHO):c.569A>G (p.Asp190Gly)	SNV Germline	Chr3:129532289	Pathogenic/Likely pathogenic	Retinitis pigmentosa 4 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256673	rs_104893777	5 SubmittersRCV000013900 RCV001386998 RCV003887863
NM_000539.3(RHO):c.632A>C (p.His211Pro)	SNV Germline	Chr3:129532352	Likely pathogenic	Retinitis pigmentosa 4 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256674	rs_28933993	3 SubmittersRCV000013901 RCV001074697
NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	SNV Germline	Chr3:129530917	Pathogenic	Retinitis punctata albescens Retinitis pigmentosa 4 Retinitis pigmentosa Condition: not provided Retinal dystrophy RHO-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA122819	rs_104893775	15 SubmittersRCV000013903 RCV000013902 RCV000132597 RCV000413771 RCV001074272 RCV004755734
NM_000539.3(RHO):c.1030C>T (p.Gln344Ter)	SNV Germline	Chr3:129533701	Pathogenic	Retinitis pigmentosa 4 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256675	rs_104893778	7 SubmittersRCV000013904 RCV000760321 RCV003887864
NM_000539.3(RHO):c.886A>G (p.Lys296Glu)	SNV Germline	Chr3:129532722	Pathogenic	Retinitis pigmentosa 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256677	rs_29001653	4 SubmittersRCV000013905 RCV002513028
NM_000539.3(RHO):c.1040C>G (p.Pro347Arg)	SNV Germline	Chr3:129533711	Pathogenic	Retinitis pigmentosa 4 Condition: not provided Retinitis pigmentosa	Criteria Provided Single Submitter	CA256678	rs_29001566	3 SubmittersRCV000013907 RCV001382064 RCV001003173
NM_000539.3(RHO):c.544G>A (p.Gly182Ser)	SNV Germline	Chr3:129532264	Pathogenic	Retinitis pigmentosa 4 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256679	rs_104893780	3 SubmittersRCV000013908 RCV001074816 RCV001857346
NM_000539.3(RHO):c.800C>T (p.Pro267Leu)	SNV Germline	Chr3:129532636	Pathogenic	Retinitis pigmentosa 4 Retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256680	rs_104893781	5 SubmittersRCV000013909 RCV001003172 RCV001582479
NM_000539.3(RHO):c.329G>A (p.Cys110Tyr)	SNV Germline	Chr3:129529062	Pathogenic	Retinitis pigmentosa 4 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256681	rs_104893787	4 SubmittersRCV000013910 RCV001234924 RCV001073635
NM_000539.3(RHO):c.745G>T (p.Glu249Ter)	SNV Germline	Chr3:129532581	Pathogenic/Likely pathogenic	Retinitis pigmentosa 4, autosomal recessive Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA122820	rs_104893783	4 SubmittersRCV000013911 RCV001007976 RCV001074645
NM_000539.3(RHO):c.158C>G (p.Pro53Arg)	SNV Germline	Chr3:129528891	Pathogenic	Retinitis pigmentosa 4 Retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256682	rs_28933395	5 SubmittersRCV000013912 RCV000504903 RCV002513029
NM_000539.3(RHO):c.316G>A (p.Gly106Arg)	SNV Germline	Chr3:129529049	Pathogenic/Likely pathogenic	Retinitis pigmentosa 4 Retinitis pigmentosa Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256683	rs_104893773	10 SubmittersRCV000013913 RCV000787679 RCV001074389 RCV001207877
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr)	SNV Germline	Chr3:129532288	Pathogenic	Retinitis pigmentosa 4 Retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256684	rs_104893779	4 SubmittersRCV000013915 RCV000504953 RCV001386997
NM_000539.3(RHO):c.44A>G (p.Asn15Ser)	SNV Germline	Chr3:129528777	Pathogenic/Likely pathogenic	Retinitis pigmentosa 4 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256685	rs_104893786	9 SubmittersRCV000013917 RCV000132598 RCV001203907 RCV004814894
NM_000539.3(RHO):c.620T>G (p.Met207Arg)	SNV Germline	Chr3:129532340	Pathogenic	Retinitis pigmentosa 4 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256686	rs_104893782	3 SubmittersRCV000013918 RCV001075474 RCV004546412
NM_000539.3(RHO):c.448G>A (p.Glu150Lys)	SNV Germline	Chr3:129530962	Pathogenic/Likely pathogenic	Retinitis pigmentosa 4, autosomal recessive Condition: not provided Retinitis pigmentosa 4 Autosomal recessive retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA122824	rs_104893791	7 SubmittersRCV000013921 RCV001045970 RCV001265186 RCV003105773 RCV004794339
NM_000539.3(RHO):c.151G>C (p.Gly51Arg)	SNV Germline	Chr3:129528884	Pathogenic	Retinitis pigmentosa 4 Condition: not provided RHO-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256687	rs_104893792	3 SubmittersRCV000013922 RCV001237838 RCV003390680
NM_000539.3(RHO):c.341G>A (p.Gly114Asp)	SNV Germline	Chr3:129529074	Pathogenic	Retinitis pigmentosa 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256688	rs_104893788	4 SubmittersRCV000013923 RCV001851839
NM_000539.3(RHO):c.491C>A (p.Ala164Glu)	SNV Germline	Chr3:129531005	Pathogenic	Retinitis pigmentosa 4 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256689	rs_104893793	3 SubmittersRCV000013924 RCV001381859 RCV004814896
NM_000539.3(RHO):c.511C>T (p.Pro171Ser)	SNV Germline	Chr3:129531025	Pathogenic	Retinitis pigmentosa 4 Retinitis pigmentosa Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256690	rs_104893794	5 SubmittersRCV000013925 RCV001003169 RCV001075386 RCV001381861
NM_000539.3(RHO):c.1033G>C (p.Val345Leu)	SNV Germline	Chr3:129533704	Pathogenic	Retinitis pigmentosa 4 Condition: not provided	Criteria Provided Single Submitter	CA256693	rs_104893795	2 SubmittersRCV000013927 RCV001213632
NM_000539.3(RHO):c.1040C>A (p.Pro347Gln)	SNV Germline	Chr3:129533711	Pathogenic	Retinitis pigmentosa 4 Condition: not provided	Criteria Provided Single Submitter	CA256694	rs_29001566	2 SubmittersRCV000013928 RCV001851840
NM_000539.3(RHO):c.67C>G (p.Pro23Ala)	SNV Germline	Chr3:129528800	Pathogenic	Retinitis pigmentosa 4	No Assertion Criteria Provided	CA256695	rs_104893797	1 SubmittersRCV000013930
NM_000539.3(RHO):c.1033G>A (p.Val345Met)	SNV Germline	Chr3:129533704	Pathogenic/Likely pathogenic	Retinitis pigmentosa 4 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256697	rs_104893795	4 SubmittersRCV000013931 RCV001045798 RCV004814897
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln)	SNV Germline	Chr15:89215133	Pathogenic/Likely pathogenic	Pigmentary retinal dystrophy Retinitis punctata albescens Autosomal recessive retinitis pigmentosa Condition: not provided Retinitis pigmentosa Newfoundland cone-rod dystrophy Pigmentary retinal dystrophy Bothnia retinal dystrophy Bothnia retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA122838	rs_137853290	7 SubmittersRCV000013973 RCV000013974 RCV001257814 RCV001857347 RCV001731283 RCV005003355 RCV005229784
NM_000326.5(RLBP1):c.141G>A (p.Lys47=)	SNV Germline	Chr15:89218565	Pathogenic	Retinitis punctata albescens Newfoundland cone-rod dystrophy Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA7722387	rs_766278489	3 SubmittersRCV000013977 RCV000013976 RCV002513030 RCV005406741
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)	SNV Germline	Chr15:89210794	Pathogenic/Likely pathogenic	Bothnia retinal dystrophy Retinitis punctata albescens RLBP1-related disorder Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA122839	rs_28933990	7 SubmittersRCV000013978 RCV000013979 RCV000345884 RCV001387783 RCV001003174 RCV003887865
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)	SNV Germline	Chr15:89211750	Pathogenic/Likely pathogenic	Retinitis punctata albescens Retinitis pigmentosa RLBP1-related disorder Condition: not provided Retinal dystrophy Bothnia retinal dystrophy Retinitis punctata albescens Bothnia retinal dystrophy Newfoundland cone-rod dystrophy Pigmentary retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA122840	rs_137853291	9 SubmittersRCV000013980 RCV000504975 RCV000394737 RCV001387784 RCV001073560 RCV005364877 RCV005003356
NM_002602.4(PDE6G):c.187+1G>T	SNV Germline	Chr17:81651644	Pathogenic	Retinitis pigmentosa 57 Retinitis pigmentosa	No Assertion Criteria Provided	CA401474205	rs_1598717056	2 SubmittersRCV000013981 RCV001003119
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter)	SNV Germline	Chr4:654119	Pathogenic	Retinitis pigmentosa 40 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256715	rs_121918579	12 SubmittersRCV000013982 RCV000504946 RCV000627220 RCV001074585
NM_000283.4(PDE6B):c.1591C>T (p.Arg531Ter)	SNV Germline	Chr4:660590	Pathogenic	Retinitis pigmentosa 40 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256717	rs_121918580	3 SubmittersRCV000013983 RCV001546523
NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr)	SNV Germline	Chr4:662188	Pathogenic	Retinitis pigmentosa 40 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256720	rs_121918581	5 SubmittersRCV000013985 RCV000132576 RCV001851841 RCV003887867
NM_000283.4(PDE6B):c.2419T>A (p.Trp807Arg)	SNV Germline	Chr4:667922	Pathogenic	Retinitis pigmentosa 40 Autosomal recessive retinitis pigmentosa	No Assertion Criteria Provided	CA256723	rs_121918583	2 SubmittersRCV000013988 RCV001257886
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter)	SNV Germline	Chr5:149886354	Pathogenic	Retinitis pigmentosa 43 Retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256725	rs_121918576	6 SubmittersRCV000013989 RCV000987614 RCV001851842
NM_000440.3(PDE6A):c.1032C>A (p.Ser344Arg)	SNV Germline	Chr5:149907345	Pathogenic	Retinitis pigmentosa 43	No Assertion Criteria Provided	CA256727	rs_121918577	1 SubmittersRCV000013990
NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter)	SNV Germline	Chr5:149895228	Pathogenic	Retinitis pigmentosa 43	Criteria Provided Single Submitter	CA256728	rs_121918578	2 SubmittersRCV000013991
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)	SNV Germline	Chr1:68439586	Pathogenic	Leber congenital amaurosis 2 Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 RPE65-related recessive retinopathy Retinal dystrophy	Reviewed By Expert Panel	CA226577	rs_61752895	9 SubmittersRCV000013993 RCV000085219 RCV001236263 RCV001831567 RCV001376448 RCV003460467 RCV004794340
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	SNV Germline	Chr1:68444858	Pathogenic	Retinitis pigmentosa 20 Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis 2 RPE65-related disorder Leber congenital amaurosis Retinitis pigmentosa 20 Autosomal recessive retinitis pigmentosa Leber congenital amaurosis Abnormality of the eye RPE65-related recessive retinopathy Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 Retinitis pigmentosa 20	Reviewed By Expert Panel	CA226531	rs_61752871	21 SubmittersRCV000013994 RCV000085184 RCV000527143 RCV000787698 RCV001073556 RCV001250682 RCV001095690 RCV001257818 RCV001275337 RCV001813981 RCV004595852 RCV005031436
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)	SNV Germline	Chr1:68431160	Likely pathogenic	Retinitis pigmentosa 20 Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 not specified Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226509	rs_62637004	7 SubmittersRCV000013995 RCV000085169 RCV001304649 RCV003114190 RCV005025051 RCV004801914
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)	SNV Germline	Chr1:68438228	Pathogenic	Retinitis pigmentosa 20 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Leber congenital amaurosis Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2	Reviewed By Expert Panel	CA256730	rs_121917744	9 SubmittersRCV000013996 RCV000815732 RCV001250693 RCV003460468 RCV001826460 RCV005025052
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	SNV Germline	Chr1:68438293	Pathogenic	Retinitis pigmentosa 20 Condition: not provided Leber congenital amaurosis 2 RPE65-related recessive retinopathy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinal dystrophy Retinitis pigmentosa 87 with choroidal involvement Retinitis pigmentosa 20 Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226472	rs_61752909	15 SubmittersRCV000013997 RCV000085141 RCV000986328 RCV003764564 RCV001047062 RCV001831568 RCV004814898 RCV002496352
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	SNV Germline	Chr1:68429835	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Condition: not provided Retinitis pigmentosa Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinal dystrophy RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226519	rs_121917745	11 SubmittersRCV000013999 RCV000014000 RCV000085176 RCV000132583 RCV001826461 RCV000816506 RCV003887868 RCV003764565
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)	SNV Germline	Chr6:42704546	Pathogenic	Retinitis pigmentosa 7 Condition: not provided PRPH2-related disorder Retinal dystrophy Retinitis pigmentosa Patterned dystrophy of the retinal pigment epithelium	Criteria Provided Multiple Submitters No Conflicts	CA226285	rs_61755806	10 SubmittersRCV000014050 RCV000085007 RCV001063368 RCV001075781 RCV001003142 RCV001250376
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)	SNV Germline	Chr6:42721781	Pathogenic/Likely pathogenic	Retinitis pigmentosa 7, digenic Condition: not provided Leber congenital amaurosis 18 Patterned macular dystrophy 1 Retinal dystrophy Patterned dystrophy of the retinal pigment epithelium PRPH2-related disorder Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA122928	rs_121918563	8 SubmittersRCV000014051 RCV000084987 RCV000149464 RCV000149466 RCV001075516 RCV001250378 RCV001378481 RCV001530305
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	SNV Germline	Chr6:42721820	Pathogenic/Likely pathogenic	Choroidal dystrophy, central areolar 2 Condition: not provided Macular dystrophy Retinitis pigmentosa Retinal dystrophy PRPH2-related disorder Patterned dystrophy of the retinal pigment epithelium Stargardt disease Vitelliform macular dystrophy 3 Retinitis pigmentosa 7	Criteria Provided Multiple Submitters No Conflicts	CA122930	rs_61755793	14 SubmittersRCV000014053 RCV000084982 RCV000787664 RCV000787663 RCV001074392 RCV001054658 RCV001250353 RCV001250367 RCV001799605 RCV005234784
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	SNV Germline	Chr6:42721821	Pathogenic/Likely pathogenic	Choroidal dystrophy, central areolar 2 Condition: not provided PRPH2-related disorder maculopathy Retinitis pigmentosa Patterned dystrophy of the retinal pigment epithelium Vitelliform macular dystrophy 2 Cone-rod dystrophy Stargardt disease Patterned macular dystrophy 1 Retinitis pigmentosa 7 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA122936	rs_61755792	17 SubmittersRCV000014056 RCV000084981 RCV001049315 RCV001003147 RCV001250348 RCV001250349 RCV001250351 RCV001250350 RCV001250352 RCV001352972 RCV002466402 RCV003887869
NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys)	SNV Germline	Chr6:42704461	Pathogenic	Retinitis pigmentosa 7 Condition: not provided Retinal dystrophy	Criteria Provided Single Submitter	CA226304	rs_61755816	4 SubmittersRCV000014058 RCV000085017 RCV003887870
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	SNV Germline	Chr6:42722199	Pathogenic/Likely pathogenic	Retinitis pigmentosa 7 Condition: not provided Patterned dystrophy of the retinal pigment epithelium Patterned macular dystrophy 1 PRPH2-related disorder Retinal dystrophy Stargardt disease Choroidal dystrophy, central areolar 2	Criteria Provided Multiple Submitters No Conflicts	CA226209	rs_61755771	14 SubmittersRCV000014067 RCV000084955 RCV001250291 RCV000987699 RCV001039794 RCV001075450 RCV001250276 RCV003987319
NM_000322.5(PRPH2):c.518A>T (p.Asp173Val)	SNV Germline	Chr6:42721817	Pathogenic	Retinitis pigmentosa 7 Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA226248	rs_61755794	4 SubmittersRCV000014069 RCV000084983 RCV005089248
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	SNV Germline	Chr6:42721911	Pathogenic/Likely pathogenic	Choroidal dystrophy, central areolar 2 Condition: not provided Cone dystrophy Progressive cone dystrophy (without rod involvement) Retinal dystrophy PRPH2-related disorder maculopathy Patterned dystrophy of the retinal pigment epithelium Stargardt disease Retinitis pigmentosa Patterned macular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA122946	rs_61755783	19 SubmittersRCV000014071 RCV000084971 RCV000678606 RCV000787661 RCV001075677 RCV001061048 RCV001003149 RCV001250319 RCV001250318 RCV001250320 RCV001353001
NM_001354768.3(NRL):c.148T>A (p.Ser50Thr)	SNV Germline	Chr14:24082701	Pathogenic	Retinitis pigmentosa 27	No Assertion Criteria Provided	CA257070	rs_104894459	1 SubmittersRCV000015086
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn)	SNV Germline	Chr7:128398557	Pathogenic/Likely pathogenic	Retinitis pigmentosa 10 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA257369	rs_121912550	6 SubmittersRCV000015959 RCV000255540 RCV003887871
NM_000883.4(IMPDH1):c.926G>C (p.Arg309Pro)	SNV Germline	Chr7:128398562	Likely pathogenic	Retinitis pigmentosa 10 Retinal dystrophy	Criteria Provided Single Submitter	CA257385	rs_121912552	2 SubmittersRCV000015961 RCV003887872
NM_001379270.1(CNGA1):c.226G>T (p.Glu76Ter)	SNV Germline	Chr4:47949894	Pathogenic	Retinitis pigmentosa 49	No Assertion Criteria Provided	CA126986	rs_121909599	1 SubmittersRCV000018438
NM_001379270.1(CNGA1):c.415A>T (p.Lys139Ter)	SNV Germline	Chr4:47943203	Pathogenic	Retinitis pigmentosa 49	No Assertion Criteria Provided	CA126988	rs_121909600	1 SubmittersRCV000018439
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	SNV Germline	Chr4:47937535	Pathogenic/Likely pathogenic	Retinitis pigmentosa 49 Retinitis pigmentosa Macular dystrophy Cone-rod dystrophy Retinal dystrophy Condition: not provided See cases CNGA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA126990	rs_62625014	20 SubmittersRCV000018440 RCV000778730 RCV000787817 RCV000787818 RCV001073687 RCV001059719 RCV001197999 RCV004757110
NM_017541.4(CRYGS):c.53G>T (p.Gly18Val)	SNV Germline	Chr3:186539566	Pathogenic	Cataract 20 multiple types Retinitis pigmentosa	Criteria Provided Single Submitter	CA126996	rs_104893736	2 SubmittersRCV000018444 RCV003315504
NM_000717.5(CA4):c.40C>T (p.Arg14Trp)	SNV Germline	Chr17:60150074	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 17 CA4-related disorder	Criteria Provided Conflicting Classifications	CA258044	rs_104894559	4 SubmittersRCV001247433 RCV000336591 RCV000019173 RCV003914854
NM_000717.5(CA4):c.206G>A (p.Arg69His)	SNV Germline	Chr17:60156653	Conflicting classifications of pathogenicity	Retinal dystrophy Retinitis pigmentosa 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA258046	rs_121434552	3 SubmittersRCV003887874 RCV000019175 RCV002513116
NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp)	SNV Germline	Chr1:212858813	Pathogenic	Posterior column ataxia-retinitis pigmentosa syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115240	rs_267606820	3 SubmittersRCV000001933 RCV001046647
NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr)	SNV Germline	Chr1:212859173	Pathogenic	Posterior column ataxia-retinitis pigmentosa syndrome Condition: not provided	Criteria Provided Single Submitter	CA115241	rs_267606819	2 SubmittersRCV000001934 RCV001851962
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)	SNV Germline	Chr1:212859026	Pathogenic/Likely pathogenic	Posterior column ataxia-retinitis pigmentosa syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA115242	rs_267606821	7 SubmittersRCV000001935 RCV002513132 RCV002513131
NM_001242957.3(MAK):c.718C>T (p.Gln240Ter)	SNV Germline	Chr6:10802005	Pathogenic	Retinitis pigmentosa 62	No Assertion Criteria Provided	CA134118690	rs_779514800	1 SubmittersRCV000022648
NM_001242957.3(MAK):c.388A>C (p.Asn130His)	SNV Germline	Chr6:10808913	Likely pathogenic	Retinitis pigmentosa 62 Retinal dystrophy	Criteria Provided Single Submitter	CA259647	rs_387906646	2 SubmittersRCV000022649 RCV004814914
NM_001242957.3(MAK):c.37G>A (p.Gly13Ser)	SNV Germline	Chr6:10830612	Conflicting classifications of pathogenicity	Retinitis pigmentosa 62 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA259649	rs_387906647	4 SubmittersRCV000022650 RCV001851998 RCV004814915
NM_001242957.3(MAK):c.497G>A (p.Arg166His)	SNV Germline	Chr6:10803886	Pathogenic	Retinitis pigmentosa 62 Retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA259651	rs_387906648	4 SubmittersRCV000022651 RCV001003075 RCV001388421
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	SNV Germline	Chr1:68438213	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis RPE65-related disorder Retinal dystrophy Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226484	rs_62653011	16 SubmittersRCV000022749 RCV000022750 RCV000085150 RCV000787920 RCV001054423 RCV001275328 RCV000348257 RCV004814916 RCV005025077 RCV003764626
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	SNV Germline	Chr1:68439033	Pathogenic	Leber congenital amaurosis 2 Condition: not provided RPE65-related recessive retinopathy Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 Retinitis pigmentosa 20	Reviewed By Expert Panel	CA226589	rs_61752904	7 SubmittersRCV000022753 RCV000085231 RCV003764627 RCV002490403 RCV002513174
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	SNV Germline	Chr1:68431328	Likely pathogenic	Leber congenital amaurosis 2 Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy RPE65-related disorder Leber congenital amaurosis	Reviewed By Expert Panel	CA226500	rs_62636300	8 SubmittersRCV000022754 RCV000085161 RCV001054426 RCV003764628 RCV004732553 RCV003317042
NM_000440.3(PDE6A):c.2053G>A (p.Val685Met)	SNV Germline	Chr5:149883511	Pathogenic	Retinitis pigmentosa 43 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA259675	rs_121909835	7 SubmittersRCV000022755 RCV000797198 RCV001074616
NM_000539.3(RHO):c.482G>A (p.Trp161Ter)	SNV Germline	Chr3:129530996	Pathogenic	Retinitis pigmentosa 4, autosomal recessive Condition: not provided Retinitis pigmentosa 4	Criteria Provided Multiple Submitters No Conflicts	CA358695	rs_869320618	3 SubmittersRCV000022756 RCV001381858 RCV005234794
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)	SNV Germline	Chr1:94041367	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227113	rs_61751399	7 SubmittersRCV000023141 RCV000085574 RCV000504768 RCV001073572
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)	SNV Germline	Chr6:35505751	Pathogenic/Likely pathogenic	Leber congenital amaurosis 15 Condition: not provided Leber congenital amaurosis Retinal dystrophy Retinitis pigmentosa 14 Leber congenital amaurosis 15	Criteria Provided Multiple Submitters No Conflicts	CA259775	rs_387906837	6 SubmittersRCV000023189 RCV001857359 RCV004586021 RCV004814919 RCV005042082
NM_174878.3(CLRN1):c.92C>T (p.Pro31Leu)	SNV Germline	Chr3:150972617	Pathogenic	Retinitis pigmentosa 61 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129342	rs_374390376	3 SubmittersRCV000023538 RCV001073290 RCV001384938
NM_006445.4(PRPF8):c.6353C>T (p.Ser2118Phe)	SNV Germline	Chr17:1653558	Pathogenic	Retinitis pigmentosa 13	No Assertion Criteria Provided	CA259878	rs_387906971	1 SubmittersRCV000023643
NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser)	SNV Germline	Chr17:1650880	Pathogenic	Retinitis pigmentosa 13 Condition: not provided	Criteria Provided Single Submitter	CA397562014	rs_1911001854	2 SubmittersRCV000023644 RCV002513199
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	SNV Germline	Chr1:26438228	Pathogenic	Retinitis pigmentosa 59 Developmental delay and seizures with or without movement abnormalities Retinitis pigmentosa 59 Retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA259894	rs_147394623	18 SubmittersRCV000023687 RCV000762902 RCV000778978 RCV001354833
NM_206933.4(USH2A):c.7595-2144A>G	SNV Germline	Chr1:215891198	Pathogenic/Likely pathogenic	Usher syndrome type 2A Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa Condition: not provided Usher syndrome type 2 Retinal dystrophy Retinitis pigmentosa 39 USH2A-related disorder Rare genetic deafness	Criteria Provided Multiple Submitters No Conflicts	CA259896	rs_786200928	25 SubmittersRCV000023700 RCV000505092 RCV000664608 RCV000787740 RCV000814767 RCV001003267 RCV001074209 RCV001376510 RCV001824575 RCV004017262
NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg)	SNV Germline	Chr1:212889209	Pathogenic	Posterior column ataxia-retinitis pigmentosa syndrome	No Assertion Criteria Provided	CA344793881	rs_1558121050	1 SubmittersRCV000023754
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)	SNV Germline	Chr14:88416725	Pathogenic/Likely pathogenic	Leber congenital amaurosis 3 SPATA7-related disorder Retinal dystrophy Retinitis pigmentosa 94, variable age at onset Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA259907	rs_140287375	10 SubmittersRCV000023791 RCV000778417 RCV001075501 RCV002260600 RCV002251427
NM_152419.3(HGSNAT):c.234+1G>A	SNV Germline	Chr8:43147064	Pathogenic	Mucopolysaccharidosis, MPS-III-C Condition: not provided Retinitis pigmentosa 73 Mucopolysaccharidosis, MPS-III-C Retinal dystrophy Sanfilippo syndrome	Criteria Provided Multiple Submitters No Conflicts	CA129492	rs_483352908	13 SubmittersRCV000023817 RCV000153361 RCV000652843 RCV001074236 RCV001192638
NM_177965.4(CFAP418):c.497T>A (p.Leu166Ter)	SNV Germline	Chr8:95247744	Pathogenic	Retinitis pigmentosa 64	No Assertion Criteria Provided	CA371838342	rs_1064792852	1 SubmittersRCV000024191
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp)	SNV Germline	Chr8:95247712	Pathogenic/Likely pathogenic	Cone-rod dystrophy 16 Bardet-biedl syndrome 21 Retinitis pigmentosa Autosomal recessive retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA260013	rs_387907136	5 SubmittersRCV000024193 RCV000477682 RCV001002908 RCV001257837 RCV002228055 RCV004794345
NM_177965.4(CFAP418):c.545A>G (p.Gln182Arg)	SNV Germline	Chr8:95247696	Pathogenic	Retinitis pigmentosa Retinitis pigmentosa 64	No Assertion Criteria Provided	CA129739	rs_387907137	2 SubmittersRCV001002907 RCV000024194
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys)	SNV Germline	Chr16:1564074	Pathogenic	Saldino-Mainzer syndrome Retinitis pigmentosa 80 Condition: not provided Retinitis pigmentosa 80 Saldino-Mainzer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA129885	rs_387907192	6 SubmittersRCV000024359 RCV000515561 RCV001781315 RCV005016296
NM_014714.4(IFT140):c.2399+1G>T	SNV Germline	Chr16:1557934	Pathogenic	Saldino-Mainzer syndrome Retinitis pigmentosa 80 Retinal dystrophy Saldino-Mainzer syndrome Retinitis pigmentosa 80 Condition: not provided IFT140-related disorder Polycystic kidney disease Renal cyst Polycystic kidney disease 9, susceptibility to Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA129886	rs_376586707	13 SubmittersRCV000024360 RCV000515584 RCV001075306 RCV001536095 RCV001818178 RCV003924859 RCV004760343 RCV004786282 RCV005255556 RCV003993751
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)	SNV Germline	Chr16:1592176	Pathogenic/Likely pathogenic	Saldino-Mainzer syndrome Condition: not provided Jeune thoracic dystrophy Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Retinitis pigmentosa 80 Saldino-Mainzer syndrome Nephronophthisis IFT140-related disorder Retinitis pigmentosa 80	Criteria Provided Multiple Submitters No Conflicts	CA129889	rs_201188361	14 SubmittersRCV000024363 RCV000255441 RCV000515934 RCV000626465 RCV001249674 RCV001328311 RCV004752723 RCV005259984
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)	SNV Germline	Chr16:56502382	Pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA260182	rs_193922710	8 SubmittersRCV000029406 RCV000672755 RCV005016297 RCV004798748 RCV004719664
NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter)	SNV Germline	Chr17:76540205	Pathogenic	Retinitis pigmentosa 36 Retinitis pigmentosa Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA260582	rs_387907268	9 SubmittersRCV000030701 RCV001003124 RCV001075439 RCV001268748
NM_006343.3(MERTK):c.61+1G>A	SNV Germline	Chr2:111898797	Pathogenic	Retinitis pigmentosa 38	No Assertion Criteria Provided	CA348232703	rs_1573554264	1 SubmittersRCV000030843
NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter)	SNV Germline	Chr2:112021555	Pathogenic	Retinitis pigmentosa 38 Autosomal recessive retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA260612	rs_387907314	5 SubmittersRCV000030845 RCV001257797 RCV001852614 RCV004814930
NM_207352.4(CYP4V2):c.958C>T (p.Arg320Ter)	SNV Germline	Chr4:186201313	Pathogenic	Bietti crystalline corneoretinal dystrophy Retinitis pigmentosa	No Assertion Criteria Provided	CA343741	rs_199476194	2 SubmittersRCV000032549 RCV002267722
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	SNV Germline	Chr1:197434706	Pathogenic	Leber congenital amaurosis 8 Retinitis pigmentosa 12 Condition: not provided Retinal dystrophy Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis Cone dystrophy Hereditary macular dystrophy Retinitis pigmentosa CRB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA228022	rs_62645748	31 SubmittersRCV000032814 RCV000032815 RCV000086331 RCV000505155 RCV000762874 RCV001097540 RCV000554663 RCV001275657 RCV003324500 RCV005357245 RCV000787579 RCV003313928
NM_014014.5(SNRNP200):c.3269G>T (p.Arg1090Leu)	SNV Germline	Chr2:96287959	Pathogenic	Retinitis pigmentosa 33	No Assertion Criteria Provided	CA261210	rs_397514574	1 SubmittersRCV000032962
NM_014014.5(SNRNP200):c.2653C>G (p.Gln885Glu)	SNV Germline	Chr2:96290415	Pathogenic	Retinitis pigmentosa 33	No Assertion Criteria Provided	CA261211	rs_397514575	1 SubmittersRCV000032963
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)	SNV Germline	ChrX:13736487	Pathogenic	Joubert syndrome Orofaciodigital syndrome I Retinitis pigmentosa 23 Simpson-Golabi-Behmel syndrome type 2 Orofaciodigital syndrome I Joubert syndrome 10	Criteria Provided Multiple Submitters No Conflicts	CA343958	rs_312262810	2 SubmittersRCV001383219 RCV002496509
NM_000541.5(SAG):c.577C>T (p.Arg193Ter)	SNV Germline	Chr2:233328542	Pathogenic	Oguchi disease Condition: not provided Retinal dystrophy Oguchi disease-2 Retinitis pigmentosa 47 Retinitis pigmentosa 47 Oguchi disease-1 Oguchi disease-1	Criteria Provided Multiple Submitters No Conflicts	CA130895	rs_201153410	12 SubmittersRCV000034821 RCV001040357 RCV001073952 RCV001270292 RCV003224859 RCV002477062 RCV002272037
NM_000541.5(SAG):c.916G>T (p.Glu306Ter)	SNV Germline	Chr2:233335071	Pathogenic	Oguchi disease Retinitis pigmentosa 47	Criteria Provided Single Submitter	CA130899	rs_397514682	2 SubmittersRCV000034824 RCV001807749
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)	SNV Germline	Chr9:114504769	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa-deafness syndrome Autosomal recessive nonsyndromic hearing loss 31 Usher syndrome type 2D	Criteria Provided Conflicting Classifications	CA136922	rs_45527543	8 SubmittersRCV000038895 RCV000725335 RCV000988244 RCV001168207 RCV001168208
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)	SNV Germline	Chr10:71803371	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa-deafness syndrome Condition: not provided Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Rare genetic deafness Retinal dystrophy Neurodevelopmental abnormality Usher syndrome type 1D Pituitary adenoma 5, multiple types	Criteria Provided Conflicting Classifications	CA261801	rs_202052174	18 SubmittersRCV000039276 RCV000988383 RCV000725220 RCV001559300 RCV003483451 RCV004017329 RCV004814963 RCV001264702 RCV001374881 RCV003473285
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)	SNV Germline	Chr5:90647666	Conflicting classifications of pathogenicity	not specified Febrile seizures, familial, 4 Condition: not provided Usher syndrome type 2C Retinitis pigmentosa ADGRV1-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA138098	rs_190922596	11 SubmittersRCV000039568 RCV000146077 RCV000954914 RCV001151213 RCV003389449 RCV004549464 RCV005625232
NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg)	SNV Germline	Chr3:150972582	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 3A Retinitis pigmentosa 61	Criteria Provided Multiple Submitters No Conflicts	CA142675	rs_111033434	4 SubmittersRCV000041430 RCV001058723 RCV005031479
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)	SNV Germline	Chr3:150941647	Pathogenic/Likely pathogenic	Usher syndrome type 3 Condition: not provided Usher syndrome type 3A Usher syndrome Rare genetic deafness Retinitis pigmentosa 61 Usher syndrome type 3A Retinitis pigmentosa 61	Criteria Provided Multiple Submitters No Conflicts	CA142688	rs_374963432	8 SubmittersRCV000041436 RCV001071445 RCV002243688 RCV001582535 RCV000844624 RCV003466890 RCV005031481
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)	SNV Germline	Chr1:216325448	Conflicting classifications of pathogenicity	not specified Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143213	rs_397517963	7 SubmittersRCV000041663 RCV001074760 RCV000670778 RCV001362594 RCV003466891
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	SNV Germline	Chr1:216325412	Pathogenic	Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Rare genetic deafness Usher syndrome Retinal dystrophy Retinitis pigmentosa	Reviewed By Expert Panel	CA262054	rs_369522997	13 SubmittersRCV000041668 RCV000411779 RCV000727128 RCV000824797 RCV000710349 RCV001074772 RCV001723627
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)	SNV Germline	Chr1:215782873	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA262056	rs_111033379	8 SubmittersRCV000041669 RCV000670189 RCV000802347 RCV001353056 RCV003450731 RCV004814973
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)	SNV Germline	Chr1:215782806	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA143221	rs_397517966	4 SubmittersRCV000041670 RCV001350663 RCV000669162 RCV004686573
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	SNV Germline	Chr1:215782762	Pathogenic/Likely pathogenic	Usher syndrome type 2A Rare genetic deafness Condition: not provided Retinitis pigmentosa 39 Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy See cases USH2A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA262058	rs_111033264	19 SubmittersRCV000041673 RCV000824783 RCV001056065 RCV001376413 RCV000504880 RCV000665210 RCV001074824 RCV002287354 RCV004732588
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)	SNV Germline	Chr1:215782738	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Usher syndrome Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143227	rs_111033439	5 SubmittersRCV000041674 RCV000667791 RCV001852852 RCV005430950 RCV003466892
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	SNV Germline	Chr1:215782070	Pathogenic/Likely pathogenic	Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39 Rare genetic deafness Nonsyndromic genetic hearing loss Condition: not provided Retinal dystrophy Usher syndrome Retinitis pigmentosa 39 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA262060	rs_202175091	15 SubmittersRCV000041676 RCV000666226 RCV000824782 RCV001544538 RCV000804464 RCV001073629 RCV003323372 RCV001293034 RCV003324502
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)	SNV Germline	Chr1:215782058	Pathogenic/Likely pathogenic	Rare genetic deafness Retinal dystrophy Condition: not provided Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262062	rs_111033265	5 SubmittersRCV000041677 RCV001073926 RCV001852854 RCV003450737 RCV002496659 RCV003450738
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)	SNV Germline	Chr1:215780023	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262064	rs_111033418	8 SubmittersRCV000041678 RCV000522247 RCV000664676 RCV003450739 RCV003450740
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)	SNV Germline	Chr1:215779860	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA143239	rs_397517969	3 SubmittersRCV000041683 RCV000666661 RCV002514158
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)	SNV Germline	Chr1:216325309	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2 Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143255	rs_111033395	4 SubmittersRCV000041694 RCV001852855 RCV002307376 RCV005252713
NM_206933.4(USH2A):c.1143+1G>A	SNV Germline	Chr1:216325304	Pathogenic	Rare genetic deafness Cone-rod dystrophy Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262069	rs_397517974	4 SubmittersRCV000041697 RCV001199582 RCV003445115 RCV003445116
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)	SNV Germline	Chr1:216324317	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143271	rs_148447919	10 SubmittersRCV000041704 RCV000360778 RCV000890954 RCV000308355
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)	SNV Germline	Chr1:215728169	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143275	rs_142381713	12 SubmittersRCV000041707 RCV000725418 RCV000986519 RCV001579153 RCV004814974
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)	SNV Germline	Chr1:215728142	Pathogenic/Likely pathogenic	Rare genetic deafness Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262070	rs_397517976	8 SubmittersRCV000041710 RCV001075329 RCV000669396 RCV001852856 RCV003226175 RCV003450756 RCV003450757
NM_206933.4(USH2A):c.12067-1G>C	SNV Germline	Chr1:215680377	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Condition: not provided Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262072	rs_397517977	5 SubmittersRCV000041711 RCV000670110 RCV003445117 RCV001852857 RCV003445118
NM_206933.4(USH2A):c.12067-2A>G	SNV Germline	Chr1:215680378	Pathogenic	Rare genetic deafness Usher syndrome type 2 Retinal dystrophy Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa 39 Usher syndrome type 2A USH2A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA262073	rs_397517978	18 SubmittersRCV000390593 RCV001003259 RCV001073917 RCV000412841 RCV000666727 RCV000983997 RCV001271128 RCV004732590
NM_206933.4(USH2A):c.12295-2A>G	SNV Germline	Chr1:215675618	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262074	rs_151148854	9 SubmittersRCV000041714 RCV000670554 RCV001074339 RCV001057968 RCV001826587 RCV003445119
NM_206933.4(USH2A):c.12295-3T>A	SNV Germline	Chr1:215675619	Pathogenic	not specified Condition: not provided Retinitis pigmentosa 39 Usher syndrome Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa	Reviewed By Expert Panel	CA143283	rs_111033518	11 SubmittersRCV000041717 RCV000414389 RCV000675157 RCV001004773 RCV001074786 RCV005007961 RCV001723628
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)	SNV Germline	Chr1:215675579	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy USH2A-related disorder	Criteria Provided Conflicting Classifications	CA143284	rs_142095945	10 SubmittersRCV000041718 RCV001241616 RCV001270357 RCV001274935 RCV001376289 RCV002496660 RCV004814975 RCV004732591
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)	SNV Germline	Chr1:215675043	Pathogenic	Rare genetic deafness Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262082	rs_397517983	5 SubmittersRCV000041731 RCV000819445 RCV000670430 RCV001074436 RCV003450770 RCV003450771
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)	SNV Germline	Chr1:215675037	Likely pathogenic	not specified Retinitis pigmentosa Retinal dystrophy Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39	Reviewed By Expert Panel	CA143304	rs_397517984	9 SubmittersRCV000041732 RCV000504620 RCV001075301 RCV001231366 RCV001810411 RCV003460549 RCV005016325
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)	SNV Germline	Chr1:215674781	Pathogenic/Likely pathogenic	Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Rare genetic deafness	Criteria Provided Multiple Submitters No Conflicts	CA262084	rs_111033385	6 SubmittersRCV000041735 RCV000410671 RCV000725789 RCV000824778
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter)	SNV Germline	Chr1:215674598	Pathogenic/Likely pathogenic	Rare genetic deafness Retinal dystrophy Condition: not provided Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262086	rs_111033417	5 SubmittersRCV000041739 RCV001073672 RCV002514159 RCV003450773
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)	SNV Germline	Chr1:215674202	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143326	rs_730254	12 SubmittersRCV000041745 RCV000585560 RCV003887893 RCV001272941 RCV001376370
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)	SNV Germline	Chr1:215671031	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA143334	rs_45549044	14 SubmittersRCV000041750 RCV000756882 RCV000669410 RCV001532872 RCV005417445
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)	SNV Germline	Chr1:215671004	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143336	rs_372966682	5 SubmittersRCV000041751 RCV001376435 RCV001245454 RCV001272937
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)	SNV Germline	Chr1:215650755	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262089	rs_397517989	5 SubmittersRCV000041752 RCV000674521 RCV001380766 RCV003450782 RCV003450783
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)	SNV Germline	Chr1:215650648	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262091	rs_397517990	8 SubmittersRCV000041756 RCV001057445 RCV000665736 RCV001198544 RCV003887895 RCV003450788
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)	SNV Germline	Chr1:216323590	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143350	rs_35730265	14 SubmittersRCV000041760 RCV001099108 RCV000828962 RCV001099109 RCV003887896
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)	SNV Germline	Chr1:215648594	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Condition: not provided Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143356	rs_139065588	7 SubmittersRCV000041763 RCV000665634 RCV001272933 RCV001034422 RCV003887899 RCV001579147
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)	SNV Germline	Chr1:215640615	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Cone-rod dystrophy Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA262093	rs_397517994	8 SubmittersRCV000041772 RCV000671978 RCV001852859 RCV000787726 RCV003114221 RCV003450801 RCV003450802 RCV004814977
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)	SNV Germline	Chr1:215628969	Conflicting classifications of pathogenicity	Condition: not provided Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143395	rs_111033402	7 SubmittersRCV001247642 RCV001810412 RCV002483032 RCV004814978
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)	SNV Germline	Chr1:215628837	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143403	rs_111033419	8 SubmittersRCV000041788 RCV001276136 RCV002504925 RCV002513599 RCV003460550
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)	SNV Germline	Chr1:216321921	Pathogenic	Rare genetic deafness Retinitis pigmentosa Usher syndrome type 2A Retinal dystrophy Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome	Criteria Provided Multiple Submitters No Conflicts	CA262095	rs_111033273	16 SubmittersRCV000041794 RCV000787727 RCV000984314 RCV001074602 RCV000413438 RCV000678646 RCV002483034 RCV004799759
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)	SNV Germline	Chr1:216292352	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143415	rs_35818432	16 SubmittersRCV000041795 RCV000415970 RCV001003284 RCV001101110 RCV001376290
NM_206933.4(USH2A):c.1841-2A>G	SNV Germline	Chr1:216289412	Pathogenic	Rare genetic deafness USH2A-related disorder Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Nonsyndromic genetic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA262097	rs_397518003	13 SubmittersRCV000041799 RCV000270130 RCV000665036 RCV000984014 RCV001271238 RCV001069761 RCV001544537
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)	SNV Germline	Chr1:216251018	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa Retinal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA143433	rs_111033248	13 SubmittersRCV000041805 RCV000888471 RCV000986546 RCV001097279 RCV004814979 RCV004018917
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)	SNV Germline	Chr1:216246848	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143442	rs_111033481	11 SubmittersRCV000041814 RCV000946559 RCV000986544 RCV001098935 RCV004814980
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)	SNV Germline	Chr1:216422073	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39 Condition: not provided	Criteria Provided Conflicting Classifications	CA143444	rs_368798834	7 SubmittersRCV000041815 RCV000666896 RCV001075031 RCV001376238 RCV001560407
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)	SNV Germline	Chr1:216217421	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143454	rs_149304901	13 SubmittersRCV000041821 RCV001097184 RCV000487811 RCV001097185 RCV004814981 RCV001578841
NM_206933.4(USH2A):c.3158-6A>G	SNV Germline	Chr1:216207437	Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome	Criteria Provided Multiple Submitters No Conflicts	CA143458	rs_397518010	4 SubmittersRCV000041823 RCV003460551 RCV000505082
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)	SNV Germline	Chr1:216207280	Pathogenic	Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Rare genetic deafness Condition: not provided Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262098	rs_397518011	9 SubmittersRCV000041825 RCV000669871 RCV000824791 RCV001386859 RCV001074200 RCV003450838
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)	SNV Germline	Chr1:216199817	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143465	rs_146462407	7 SubmittersRCV000041831 RCV000341412 RCV000974887 RCV000394479
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)	SNV Germline	Chr1:216199738	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA143467	rs_200276882	5 SubmittersRCV000041832 RCV000346771 RCV000291877 RCV000669144 RCV002513602 RCV003162354
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	SNV Germline	Chr1:216196698	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome Retinal dystrophy USH2A-related disorder Retinitis pigmentosa Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143476	rs_201709513	16 SubmittersRCV000041837 RCV001376516 RCV000726718 RCV000665274 RCV002307377 RCV001074345 RCV004732594 RCV001723629 RCV003326116
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val)	SNV Germline	Chr1:216175347	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA143485	rs_201710470	5 SubmittersRCV000041843 RCV001033957 RCV003450845 RCV003450846 RCV004965271
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)	SNV Germline	Chr1:216175319	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA143488	rs_148000219	13 SubmittersRCV000041844 RCV000724966 RCV001102385 RCV001102384
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)	SNV Germline	Chr1:216175293	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143494	rs_41303255	13 SubmittersRCV000041846 RCV000324312 RCV000513149 RCV000270447 RCV001073300
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)	SNV Germline	Chr1:216421859	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa USH2A-related disorder	Criteria Provided Conflicting Classifications	CA143499	rs_111033479	6 SubmittersRCV000041848 RCV000881175 RCV001099314 RCV001099313 RCV004537152
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val)	SNV Germline	Chr1:216089061	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA143501	rs_397518017	3 SubmittersRCV000041849 RCV000673507 RCV002514162
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)	SNV Germline	Chr1:216073292	Pathogenic	Rare genetic deafness Usher syndrome Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Condition: not provided Retinitis pigmentosa 39 USH2A-related disorder	Reviewed By Expert Panel	CA262105	rs_375668376	11 SubmittersRCV000041861 RCV000710326 RCV000667951 RCV001074044 RCV001214945 RCV003460552 RCV004537153
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)	SNV Germline	Chr1:216073261	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Childhood onset hearing loss	Criteria Provided Conflicting Classifications	CA143523	rs_140895792	9 SubmittersRCV000041863 RCV001276245 RCV001588861 RCV000585075 RCV001543605
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)	SNV Germline	Chr1:216072958	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA262107	rs_397518021	10 SubmittersRCV000041869 RCV000668739 RCV001289411 RCV003450858 RCV003450859 RCV004794353
NM_206933.4(USH2A):c.5857+2T>C	SNV Germline	Chr1:216072887	Likely pathogenic	Rare genetic deafness USH2A-related disorder Retinal dystrophy Condition: not provided Retinitis pigmentosa 39 Usher syndrome Usher syndrome type 2A	Reviewed By Expert Panel	CA262109	rs_397518022	9 SubmittersRCV000041870 RCV000295857 RCV001074605 RCV001036145 RCV000675153 RCV001004785 RCV002291270
NM_206933.4(USH2A):c.5858-1G>A	SNV Germline	Chr1:216070293	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262110	rs_397518023	8 SubmittersRCV000041871 RCV000665613 RCV000821430 RCV001826596 RCV003445127
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)	SNV Germline	Chr1:216070292	Conflicting classifications of pathogenicity	not specified Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided USH2A-related disorder Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143534	rs_41302239	20 SubmittersRCV000041872 RCV000504937 RCV000765069 RCV001196428 RCV000726918 RCV004724770 RCV001579152
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)	SNV Germline	Chr1:216070175	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Progressive cone dystrophy (without rod involvement) USH2A-related disorder Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA248657	rs_41303287	16 SubmittersRCV000041873 RCV000585540 RCV000669397 RCV000787924 RCV004537154 RCV001273044
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe)	SNV Germline	Chr1:216070107	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA143540	rs_370597096	4 SubmittersRCV000041876 RCV000665501 RCV001509571 RCV002513603
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)	SNV Germline	Chr1:216048563	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143546	rs_111033514	8 SubmittersRCV000041879 RCV000726921 RCV000664994 RCV001273040
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)	SNV Germline	Chr1:216046532	Pathogenic	Rare genetic deafness Retinal dystrophy Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262111	rs_111033386	6 SubmittersRCV000041880 RCV001073793 RCV001042426 RCV001826597 RCV003450867
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=)	SNV Germline	Chr1:215999058	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA143558	rs_397518025	3 SubmittersRCV000041887 RCV000664951 RCV002513604
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)	SNV Germline	Chr1:216365084	Conflicting classifications of pathogenicity	Rare genetic deafness Condition: not provided Retinitis pigmentosa Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome USH2A-related disorder	Criteria Provided Conflicting Classifications	CA262114	rs_397518026	18 SubmittersRCV000041890 RCV000408647 RCV000504825 RCV001075204 RCV001826599 RCV000675152 RCV005237463 RCV004537156
NM_206933.4(USH2A):c.688G>A (p.Val230Met)	SNV Germline	Chr1:216365049	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Usher syndrome type 2A Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143578	rs_45500891	12 SubmittersRCV000041898 RCV000126255 RCV001097446 RCV001273813 RCV003888405
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)	SNV Germline	Chr1:215965369	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143585	rs_200038092	10 SubmittersRCV000041902 RCV000924303 RCV000490376 RCV000671627
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)	SNV Germline	Chr1:215934672	Pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262116	rs_397518029	4 SubmittersRCV000041905 RCV001205092 RCV003450885 RCV003466893
NM_206933.4(USH2A):c.7451+3G>A	SNV Germline	Chr1:215900752	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA143594	rs_397518030	4 SubmittersRCV000041908 RCV000667778 RCV000986529 RCV002513605
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg)	SNV Germline	Chr1:215888805	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA143603	rs_397518032	3 SubmittersRCV000041913 RCV000668816 RCV005089381
NM_206933.4(USH2A):c.78T>C (p.Ala26=)	SNV Germline	Chr1:216422259	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA143611	rs_59139861	4 SubmittersRCV000041917 RCV001101303 RCV000888634 RCV001101304
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)	SNV Germline	Chr1:216327637	Pathogenic/Likely pathogenic	Usher syndrome Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Usher syndrome type 2 Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA143613	rs_111033280	15 SubmittersRCV000041918 RCV000675158 RCV001074162 RCV001003288 RCV001060026 RCV003450896 RCV001826601
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)	SNV Germline	Chr1:216327619	Pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Usher syndrome Condition: not provided Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262118	rs_397518036	8 SubmittersRCV000041921 RCV000669898 RCV001831706 RCV003389452 RCV001852861 RCV003888408 RCV003450899
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)	SNV Germline	Chr1:215878980	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143623	rs_143240767	10 SubmittersRCV000041924 RCV000490269 RCV000937215 RCV000665134 RCV003888409 RCV001579280
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)	SNV Germline	Chr1:215878891	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinal dystrophy Retinitis pigmentosa Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA262120	rs_111033529	6 SubmittersRCV000041927 RCV000937132 RCV001074998 RCV000505137 RCV000664665
NM_206933.4(USH2A):c.8559-2A>G	SNV Germline	Chr1:215877882	Pathogenic	Usher syndrome type 2A Retinitis pigmentosa Usher syndrome Retinal dystrophy Retinitis pigmentosa 39 Retinitis pigmentosa 39 Usher syndrome type 2A Rare genetic deafness Condition: not provided	Reviewed By Expert Panel	CA262122	rs_397518039	20 SubmittersRCV000041930 RCV000132715 RCV000710341 RCV001075171 RCV003460553 RCV000665497 RCV000824785 RCV000592589
NM_206933.4(USH2A):c.879T>G (p.Leu293=)	SNV Germline	Chr1:216325569	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Usher syndrome type 2A Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143640	rs_3767698	6 SubmittersRCV000041935 RCV000879540 RCV001101203 RCV001101202 RCV003888412
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	SNV Germline	Chr1:215845898	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262123	rs_397518041	13 SubmittersRCV000041937 RCV000760327 RCV000504790 RCV001075814 RCV000666550 RCV001193386 RCV001273709 RCV001376393
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)	SNV Germline	Chr1:215844481	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Usher syndrome	Criteria Provided Conflicting Classifications	CA143644	rs_111033456	6 SubmittersRCV000041938 RCV001248550 RCV000669262 RCV001276962 RCV003389453
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)	SNV Germline	Chr1:215844349	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143646	rs_146445078	6 SubmittersRCV000041940 RCV000416029 RCV001810414 RCV005394243
NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter)	SNV Germline	Chr1:215838058	Pathogenic	Rare genetic deafness Condition: not provided Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262128	rs_397518046	4 SubmittersRCV000041947 RCV001216340 RCV001588862
NM_206933.4(USH2A):c.9371+1G>C	SNV Germline	Chr1:215837990	Pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262130	rs_41308425	12 SubmittersRCV000041950 RCV000726813 RCV001002711 RCV001376451 RCV004767034 RCV005016326
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	SNV Germline	Chr1:215817143	Pathogenic/Likely pathogenic	Usher syndrome Rare genetic deafness Inborn genetic diseases Usher syndrome type 2 Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa Retinitis pigmentosa 39 Usher syndrome USH2A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA262131	rs_397518048	17 SubmittersRCV000041952 RCV000624783 RCV001003263 RCV002504928 RCV001055909 RCV001074810 RCV001831709 RCV001723630 RCV003387741 RCV003492342 RCV004732599
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)	SNV Germline	Chr1:215817108	Pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Condition: not provided Usher syndrome type 2A Usher syndrome Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262133	rs_73090721	10 SubmittersRCV000041954 RCV000674717 RCV001075710 RCV001388971 RCV001273702 RCV001778686 RCV003450911
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)	SNV Germline	Chr1:215799066	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA262135	rs_111033263	10 SubmittersRCV000041960 RCV000668014 RCV001075163 RCV000787745 RCV001044836 RCV003450916 RCV003450915
NM_002900.3(RBP3):c.3238G>A (p.Asp1080Asn)	SNV Germline	Chr10:47353508	Pathogenic	Retinitis pigmentosa 66 Condition: not provided	Criteria Provided Single Submitter	CA344701	rs_146150511	3 SubmittersRCV000043517 RCV001852909
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)	SNV Germline	Chr4:15570446	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 CC2D2A-related disorder Joubert syndrome Meckel-Gruber syndrome Condition: not provided Joubert syndrome 9 Meckel syndrome, type 6 COACH syndrome 2 Retinitis pigmentosa 93	Criteria Provided Conflicting Classifications	CA144229	rs_386833755	7 SubmittersRCV000049719 RCV003335082 RCV001378831 RCV001723639 RCV005031533
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)	SNV Germline	Chr4:15510217	Pathogenic	Meckel syndrome, type 6 Condition: not provided Joubert syndrome 9 Retinitis pigmentosa 93 Meckel syndrome, type 6 COACH syndrome 2 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA144239	rs_386833763	7 SubmittersRCV000049727 RCV004700347 RCV005031535 RCV001853050
NM_017739.4(POMGNT1):c.1285-2A>G	SNV Germline	Chr1:46192438	Pathogenic/Likely pathogenic	Muscle eye brain disease POMGNT1-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263941	rs_386834012	6 SubmittersRCV000049991 RCV000292476 RCV000375211 RCV001853063 RCV000983991 RCV002514260 RCV003460639
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)	SNV Germline	Chr1:46192379	Conflicting classifications of pathogenicity	Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Conflicting Classifications	CA263945	rs_386834014	7 SubmittersRCV000049993 RCV002514262 RCV001542551 RCV003228903 RCV003460640 RCV002514261 RCV005025103
NM_017739.4(POMGNT1):c.1539+1G>A	SNV Germline	Chr1:46192097	Pathogenic	Muscle eye brain disease Condition: not provided POMGNT1-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscle eye brain disease Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Myopathy caused by variation in POMGNT1 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA234711	rs_138642840	25 SubmittersRCV000049995 RCV000153760 RCV000323217 RCV000648199 RCV000763345 RCV000501155 RCV002295277 RCV002470740 RCV000983990 RCV001030748 RCV001269143 RCV001196668 RCV005025104 RCV002514263 RCV005357428 RCV004814990
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)	SNV Germline	Chr1:46189870	Pathogenic	Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy	Criteria Provided Multiple Submitters No Conflicts	CA263954	rs_386834019	8 SubmittersRCV000050000 RCV000820354 RCV001542522 RCV002496725 RCV004566907 RCV002514265
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)	SNV Germline	Chr1:46189539	Pathogenic/Likely pathogenic	Muscle eye brain disease Condition: not provided Muscular dystrophy-dystroglycanopathy Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263958	rs_267606962	8 SubmittersRCV000050002 RCV001269853 RCV002513696 RCV001853064 RCV003460642 RCV005016346
NM_017739.4(POMGNT1):c.1895+1G>A	SNV Germline	Chr1:46189457	Pathogenic/Likely pathogenic	Muscle eye brain disease Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy	Criteria Provided Multiple Submitters No Conflicts	CA263963	rs_386834024	8 SubmittersRCV000050005 RCV000240866 RCV001043665 RCV004700352 RCV001810415 RCV002513697
NM_017739.4(POMGNT1):c.1895+1G>T	SNV Germline	Chr1:46189457	Pathogenic/Likely pathogenic	Muscle eye brain disease Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 POMGNT1-related disorder Myopathy caused by variation in POMGNT1 Inborn genetic diseases Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76	Criteria Provided Multiple Submitters No Conflicts	CA263964	rs_386834024	15 SubmittersRCV000050006 RCV000490077 RCV001005010 RCV000704718 RCV000778243 RCV002470741 RCV001266790 RCV002513698 RCV001810416 RCV005025105
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)	SNV Germline	Chr1:46194853	Pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263981	rs_386834034	10 SubmittersRCV000050017 RCV000408610 RCV000578838 RCV000984294 RCV000984295 RCV001062800 RCV002272048 RCV003460643 RCV005016347
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)	SNV Germline	Chr1:46193874	Pathogenic	Muscle eye brain disease Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA223256	rs_386834039	9 SubmittersRCV000050023 RCV000081807 RCV001039421 RCV000984204 RCV000984205 RCV000984300 RCV003466920 RCV005016348
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr12:88114488	Pathogenic	Meckel syndrome, type 4 Joubert syndrome 5 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Retinitis pigmentosa Leber congenital amaurosis 10 Condition: not provided Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144389	rs_386834152	11 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002285263 RCV002504949 RCV003460645 RCV004732641
NM_012106.4(ARL2BP):c.101-1G>C	SNV Germline	Chr16:57248536	Pathogenic	Retinitis pigmentosa with or without situs inversus Retinitis pigmentosa Autosomal recessive retinitis pigmentosa	No Assertion Criteria Provided	CA10575604	rs_879255568	3 SubmittersRCV000055664 RCV001002870 RCV001257802
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser)	SNV Germline	Chr17:6426615	Pathogenic/Likely pathogenic	Leber congenital amaurosis 4 Condition: not provided AIPL1-related disorder AIPL1-related disorder Leber congenital amaurosis 4 CONE-ROD DYSTROPHY, AIPL1-RELATED Juvenile retinitis pigmentosa, AIPL1-related	Criteria Provided Multiple Submitters No Conflicts	CA227897	rs_142326926	6 SubmittersRCV000055941 RCV000086234 RCV004732645 RCV005625259
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)	SNV Germline	Chr3:97784972	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Retinitis pigmentosa 55 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 1 Retinitis pigmentosa 55 Bardet-Biedl syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA280042	rs_137854907	5 SubmittersRCV000058868 RCV003764740 RCV005234962 RCV005025110
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)	SNV Germline	Chr1:197421741	Pathogenic/Likely pathogenic	Retinal dystrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA1311998	rs_267598278	4 SubmittersRCV000505040 RCV001854256 RCV004566911
NM_006269.2(RP1):c.4735T>G (p.Leu1579Val)	SNV Germline	Chr8:54628617	Conflicting classifications of pathogenicity	Retinitis pigmentosa 1 Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA4751936	rs_200860068	3 SubmittersRCV001000883 RCV001230487 RCV001158609
NM_201548.5(CERKL):c.598A>T (p.Lys200Ter)	SNV Germline	Chr2:181573768	Pathogenic	Retinitis pigmentosa 26 Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA266217	rs_398122963	6 SubmittersRCV000076911 RCV001236550 RCV001723654
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys)	SNV Germline	Chr4:625939	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinal dystrophy Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa 40	Criteria Provided Conflicting Classifications	CA220605	rs_398123299	6 SubmittersRCV000078554 RCV000778735 RCV001074335 RCV001151258 RCV005252736
NM_000283.4(PDE6B):c.615C>T (p.Asp205=)	SNV Germline	Chr4:634823	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA145991	rs_149293844	7 SubmittersRCV000078555 RCV000282490 RCV000335369 RCV000962986
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)	SNV Germline	Chr4:635913	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2	Criteria Provided Conflicting Classifications	CA145993	rs_62295357	7 SubmittersRCV000078556 RCV000488132 RCV000987384 RCV001151689
NM_000326.5(RLBP1):c.303C>T (p.Arg101=)	SNV Germline	Chr15:89217163	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary retinal dystrophy Retinitis pigmentosa Newfoundland cone-rod dystrophy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA220669	rs_144254383	5 SubmittersRCV000078643 RCV000292834 RCV000350084 RCV000398047 RCV004815001
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	SNV Germline	Chr1:94042767	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA220683	rs_61750120	20 SubmittersRCV000078665 RCV000150052 RCV001002834 RCV001074904 RCV001195927 RCV002490678 RCV004537308 RCV005338078
NM_000350.3(ABCA4):c.5461-10T>C	SNV Germline	Chr1:94011395	Pathogenic/Likely pathogenic	Cone-rod dystrophy 3 Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Benign concentric annular macular dystrophy Macular dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa Stargardt disease not specified Retinitis pigmentosa 19 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA220687	rs_1800728	33 SubmittersRCV000008366 RCV000078669 RCV000177965 RCV000210327 RCV000210325 RCV000504857 RCV000678511 RCV000763440 RCV000787510 RCV000787771 RCV001000430 RCV001542559 RCV005625270 RCV004732655 RCV004975272
NM_000350.3(ABCA4):c.67-2A>G	SNV Germline	Chr1:94113068	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal atrophy Macular degeneration Central scotoma Visual impairment Condition: not provided Retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA345425	rs_398123339	8 SubmittersRCV000078672 RCV000415227 RCV000723703 RCV001074239 RCV005025131
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His)	SNV Germline	Chr5:149896500	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA146172	rs_17711594	6 SubmittersRCV000078824 RCV000407553 RCV000958573 RCV004815003
NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr)	SNV Germline	Chr5:149884543	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 43 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA146174	rs_78775072	5 SubmittersRCV000078825 RCV001001657 RCV001156330 RCV001521115
NM_000440.3(PDE6A):c.594G>A (p.Val198=)	SNV Germline	Chr5:149934599	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA220833	rs_398123394	3 SubmittersRCV000078826 RCV000386318
NM_001029883.3(PCARE):c.3291G>A (p.Gln1097=)	SNV Germline	Chr2:29070971	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA147001	rs_183536545	3 SubmittersRCV000079373 RCV001138826 RCV001516841
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)	SNV Germline	Chr6:64945865	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 25 EYS-related disorder	Criteria Provided Conflicting Classifications	CA221545	rs_398123574	6 SubmittersRCV000079529 RCV001164893 RCV001449926 RCV003935031
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)	SNV Germline	Chr6:64590266	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 25 Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA147159	rs_182322608	7 SubmittersRCV000079542 RCV000664906 RCV000513065 RCV001162621
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)	SNV Germline	Chr6:63864319	Pathogenic	Condition: not provided Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa 25	Criteria Provided Multiple Submitters No Conflicts	CA221547	rs_398123575	14 SubmittersRCV000177866 RCV000504744 RCV000210330 RCV001376198
NM_001297.5(CNGB1):c.1479G>A (p.Pro493=)	SNV Germline	Chr16:57931772	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 45 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA221637	rs_1052029	5 SubmittersRCV000079628 RCV001000458 RCV001121843 RCV001512152
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter)	SNV Germline	Chr16:57950463	Pathogenic	Condition: not provided Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa 45	Criteria Provided Multiple Submitters No Conflicts	CA221645	rs_372504780	5 SubmittersRCV000174506 RCV000505022 RCV001075139 RCV002498400
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)	SNV Germline	Chr15:31067145	Conflicting classifications of pathogenicity	Condition: not provided Congenital stationary night blindness 1C Retinitis pigmentosa TRPM1-related disorder	Criteria Provided Conflicting Classifications	CA221943	rs_138886378	7 SubmittersRCV000080008 RCV000763957 RCV000787888 RCV003935039
NM_002900.3(RBP3):c.1631G>A (p.Arg544His)	SNV Germline	Chr10:47350115	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 66 Condition: not provided Retinitis pigmentosa RBP3-related disorder	Criteria Provided Conflicting Classifications	CA147601	rs_41284962	6 SubmittersRCV000080036 RCV000206963 RCV000966384 RCV001106782 RCV003974966
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=)	SNV Germline	Chr1:150335238	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa PRPF3-related disorder	Criteria Provided Conflicting Classifications	CA222786	rs_143350315	4 SubmittersRCV000081164 RCV001100611 RCV003952514
NM_006017.3(PROM1):c.1977C>T (p.Asn659=)	SNV Germline	Chr4:15991228	Conflicting classifications of pathogenicity	not specified Stargardt disease 4 Retinitis pigmentosa Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Condition: not provided Retinal disorders	Criteria Provided Conflicting Classifications	CA148434	rs_149028760	7 SubmittersRCV000081346 RCV000326660 RCV000381327 RCV000296436 RCV000351307 RCV000892544 RCV005400701
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser)	SNV Germline	Chr2:111898795	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 38	Criteria Provided Conflicting Classifications	CA148491	rs_35898499	6 SubmittersRCV000081391 RCV000086964 RCV000358600 RCV003389454
NM_006899.5(IDH3B):c.117+6C>A	SNV Germline	Chr20:2663919	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided IDH3B-related disorder	Criteria Provided Conflicting Classifications	CA148540	rs_191680997	5 SubmittersRCV000081467 RCV000395761 RCV000970913 RCV003935056
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=)	SNV Germline	Chr2:96289811	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA223097	rs_375734152	4 SubmittersRCV000081582 RCV000266740
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr)	SNV Germline	Chr17:6433951	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 4 Retinal dystrophy AIPL1-related disorder	Criteria Provided Conflicting Classifications	CA223111	rs_144822294	5 SubmittersRCV000081612 RCV001125500 RCV001125501 RCV004815007 RCV004732656
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)	SNV Germline	Chr17:6433928	Conflicting classifications of pathogenicity	Condition: not provided Retinitis Pigmentosa, Dominant not specified Retinitis Pigmentosa, Recessive Leber congenital amaurosis 4 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA223113	rs_62653020	9 SubmittersRCV000081613 RCV000345097 RCV000259077 RCV000306547 RCV001080955 RCV004815008
NM_014336.5(AIPL1):c.516T>C (p.His172=)	SNV Germline	Chr17:6427007	Conflicting classifications of pathogenicity	Condition: not provided Retinitis Pigmentosa, Recessive Retinitis pigmentosa not specified Leber congenital amaurosis 4 AIPL1-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA223115	rs_62637017	10 SubmittersRCV000081614 RCV000311702 RCV000371077 RCV001001388 RCV001086330 RCV004542792 RCV004815009
NM_016247.4(IMPG2):c.1582A>G (p.Ile528Val)	SNV Germline	Chr3:101244749	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA223245	rs_142710242	4 SubmittersRCV000081789 RCV000362724 RCV003888446
NM_016247.4(IMPG2):c.3038C>T (p.Pro1013Leu)	SNV Germline	Chr3:101232976	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA148793	rs_116450347	4 SubmittersRCV000081792 RCV000401059 RCV000898540
NM_018418.5(SPATA7):c.729C>T (p.Arg243=)	SNV Germline	Chr14:88426588	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Leber congenital amaurosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA223536	rs_151338404	6 SubmittersRCV000081956 RCV000327877 RCV000952079 RCV001699118
NM_022367.4(SEMA4A):c.1301T>C (p.Met434Thr)	SNV Germline	Chr1:156172992	Conflicting classifications of pathogenicity	Condition: not provided Colorectal cancer Retinitis pigmentosa Cone-rod dystrophy 10 Retinal dystrophy Optic atrophy	Criteria Provided Conflicting Classifications	CA223636	rs_146822426	6 SubmittersRCV000082098 RCV000417364 RCV001095829 RCV001095830 RCV004815015 RCV004815016
NM_205861.3(DHDDS):c.909G>T (p.Ser303=)	SNV Germline	Chr1:26469038	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 59	Criteria Provided Conflicting Classifications	CA223788	rs_376517028	2 SubmittersRCV000082244 RCV001854439
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)	SNV Germline	Chr2:61839851	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 28 FAM161A-related disorder	Criteria Provided Conflicting Classifications	CA223829	rs_139266382	7 SubmittersRCV000416124 RCV001138007 RCV001274720 RCV003952528
NM_152419.3(HGSNAT):c.1250+1G>A	SNV Germline	Chr8:43191596	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-III-C Retinal dystrophy Sanfilippo syndrome Mucopolysaccharidosis, MPS-III-C Retinitis pigmentosa 73 Retinitis pigmentosa 73	Criteria Provided Multiple Submitters No Conflicts	CA224186	rs_398124544	11 SubmittersRCV000082652 RCV000668206 RCV001074721 RCV001192639 RCV001065437 RCV002288581
NM_152419.3(HGSNAT):c.1464+1G>A	SNV Germline	Chr8:43193844	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-III-C Mucopolysaccharidosis, MPS-III-C Retinitis pigmentosa 73	Criteria Provided Multiple Submitters No Conflicts	CA224187	rs_398124545	7 SubmittersRCV000082654 RCV000671662 RCV001221115
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)	SNV Germline	Chr1:215970720	Pathogenic	Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA224398	rs_398124619	9 SubmittersRCV000675016 RCV000760348 RCV001002688 RCV001075205 RCV001376458
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)	SNV Germline	Chr1:215888734	Conflicting classifications of pathogenicity	Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa Usher syndrome	Criteria Provided Conflicting Classifications	CA224400	rs_398124620	5 SubmittersRCV000082831 RCV005007997 RCV001723661 RCV003230399
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)	SNV Germline	Chr2:27444503	Pathogenic	Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa Bardet-Biedl syndrome 20 Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly IFT172-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA149722	rs_149614625	6 SubmittersRCV000083268 RCV001228000 RCV001723662 RCV002483157 RCV004737195
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)	SNV Germline	Chr2:27447544	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 10 with or without polydactyly Joubert syndrome Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly Bardet-Biedl syndrome 20 Condition: not provided Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly	Criteria Provided Multiple Submitters No Conflicts	CA149724	rs_587777079	5 SubmittersRCV000083270 RCV000201713 RCV002483158 RCV003225027 RCV005213205
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)	SNV Germline	Chr2:27480049	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 10 without polydactyly Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa 71 Inborn genetic diseases IFT172-related disorder Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa 71 Bardet-Biedl syndrome 20 Condition: not provided	Criteria Provided Conflicting Classifications	CA149729	rs_145541911	6 SubmittersRCV000083274 RCV001303423 RCV003278664 RCV004549522 RCV002490732 RCV003153361
NM_015662.3(IFT172):c.3907C>T (p.Arg1303Ter)	SNV Germline	Chr2:27453428	Pathogenic	Short-rib thoracic dysplasia 10 with polydactyly Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly	Criteria Provided Single Submitter	CA149735	rs_587777087	2 SubmittersRCV000083279 RCV001854452
NM_014714.4(IFT140):c.874G>A (p.Val292Met)	SNV Germline	Chr16:1587961	Pathogenic/Likely pathogenic	Saldino-Mainzer syndrome Saldino-Mainzer syndrome Joubert syndrome with Jeune asphyxiating thoracic dystrophy Jeune thoracic dystrophy Retinal dystrophy Retinitis pigmentosa 80 Saldino-Mainzer syndrome Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA149747	rs_431905521	7 SubmittersRCV000083297 RCV000626469 RCV000515922 RCV004815018 RCV005016363 RCV004579537
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)	SNV Germline	Chr16:1571494	Conflicting classifications of pathogenicity	Saldino-Mainzer syndrome Retinal dystrophy Condition: not provided Retinitis pigmentosa 80 Retinitis pigmentosa IFT140-related disorder Cranioectodermal dysplasia 5 Retinitis pigmentosa 80 Saldino-Mainzer syndrome	Criteria Provided Conflicting Classifications	CA149748	rs_199826737	15 SubmittersRCV000626462 RCV001075445 RCV001268554 RCV001542691 RCV002509205 RCV003398688 RCV005259988 RCV005016364
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=)	SNV Germline	Chr6:42722086	Conflicting classifications of pathogenicity	Condition: not provided PRPH2-related disorder Adult-onset foveomacular vitelliform dystrophy Choroidal dystrophy, central areolar 2 Patterned macular dystrophy 1 Retinitis pigmentosa Retinal dystrophy Pigmentary retinal dystrophy Cone-rod dystrophy not specified	Criteria Provided Conflicting Classifications	CA226218	rs_61755775	8 SubmittersRCV000084960 RCV001086017 RCV001165122 RCV001158408 RCV001158409 RCV001165124 RCV003888453 RCV001158410 RCV001165123 RCV001699036
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)	SNV Germline	Chr6:42722298	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary retinal dystrophy Patterned macular dystrophy 1 PRPH2-related disorder Choroidal dystrophy, central areolar 2 Adult-onset foveomacular vitelliform dystrophy Retinitis pigmentosa Cone-rod dystrophy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA226230	rs_61754402	9 SubmittersRCV000084967 RCV001158514 RCV001165232 RCV001078785 RCV001165228 RCV001165230 RCV001165229 RCV001165231 RCV003888454
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	SNV Germline	Chr6:42721913	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease Patterned macular dystrophy 1 PRPH2-related disorder Retinal dystrophy Patterned dystrophy of the retinal pigment epithelium Retinitis pigmentosa Cone-rod dystrophy Autosomal recessive bestrophinopathy Choroidal dystrophy, central areolar 2 Patterned macular dystrophy 1 Pigmentary retinal dystrophy Retinitis pigmentosa 7 Vitelliform macular dystrophy 3 Vitelliform macular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA185988	rs_61755781	12 SubmittersRCV000084969 RCV001250306 RCV000161145 RCV001051727 RCV001074856 RCV001250316 RCV001723663 RCV001250317 RCV001353037 RCV005031577 RCV002508140
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg)	SNV Germline	Chr6:42721877	Pathogenic/Likely pathogenic	Condition: not provided PRPH2-related disorder Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226236	rs_61755785	7 SubmittersRCV000084973 RCV001315051 RCV003238719 RCV004815032
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)	SNV Germline	Chr6:42721866	Pathogenic/Likely pathogenic	Condition: not provided Pigmentary retinopathy Macular degeneration Abnormality of retinal pigmentation Blurred vision Retinal dystrophy PRPH2-related disorder Pigmentary retinal dystrophy Retinitis pigmentosa Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA226238	rs_61755787	7 SubmittersRCV000084975 RCV000626661 RCV001074377 RCV001378482 RCV001270171 RCV001250327 RCV001250326
NM_000322.5(PRPH2):c.533A>G (p.Gln178Arg)	SNV Germline	Chr6:42721802	Conflicting classifications of pathogenicity	Condition: not provided PRPH2-related disorder Retinitis pigmentosa 7 Choroidal dystrophy, central areolar 2	Criteria Provided Conflicting Classifications	CA226250	rs_61755795	5 SubmittersRCV000084984 RCV001854488 RCV005234980 RCV005252746
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg)	SNV Germline	Chr6:42721800	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa PRPH2-related disorder Retinitis pigmentosa 7	Criteria Provided Multiple Submitters No Conflicts	CA226252	rs_61755796	5 SubmittersRCV000084985 RCV001250370 RCV002514515 RCV005252747
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)	SNV Germline	Chr6:42704559	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa PRPH2-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226273	rs_61755800	8 SubmittersRCV000085000 RCV000504657 RCV001854491 RCV003888459
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)	SNV Germline	Chr6:42704547	Pathogenic/Likely pathogenic	Condition: not provided PRPH2-related disorder Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226283	rs_61755805	9 SubmittersRCV000085006 RCV001058357 RCV000787871 RCV004815033
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)	SNV Germline	Chr6:42704534	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa PRPH2-related disorder Retinal dystrophy Macular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226293	rs_61755810	8 SubmittersRCV000085011 RCV001003141 RCV001346727 RCV001075618 RCV004798773
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)	SNV Germline	Chr6:42704485	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Pigmentary retinal dystrophy Choroidal dystrophy, central areolar 2 Adult-onset foveomacular vitelliform dystrophy Patterned macular dystrophy 1 not specified Cone-rod dystrophy PRPH2-related disorder	Criteria Provided Conflicting Classifications	CA226298	rs_61755813	7 SubmittersRCV000085014 RCV001159969 RCV001164883 RCV001164884 RCV001164885 RCV001164887 RCV001530323 RCV001164886 RCV001439459
NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys)	SNV Germline	Chr6:42704461	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa	No Assertion Criteria Provided	CA226306	rs_61755816	3 SubmittersRCV000085018 RCV001003139
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)	SNV Germline	Chr6:42704457	Likely pathogenic	Condition: not provided Retinitis pigmentosa Vitelliform macular dystrophy 3	Criteria Provided Single Submitter	CA226307	rs_61755817	4 SubmittersRCV000085019 RCV000132580 RCV003114252
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)	SNV Germline	Chr6:42704396	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 7 PRPH2-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226312	rs_62645935	8 SubmittersRCV000085022 RCV001705814 RCV002514517 RCV004815036
NM_000322.5(PRPH2):c.828+3A>T	SNV Germline	Chr6:42704362	Pathogenic	Condition: not provided Retinitis pigmentosa Doyne honeycomb retinal dystrophy PRPH2-related disorder Retinal dystrophy Choroideremia Cone-rod dystrophy Patterned dystrophy of the retinal pigment epithelium Vitelliform macular dystrophy 2 Stargardt disease Patterned macular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA226319	rs_281865373	10 SubmittersRCV000085026 RCV001250357 RCV001250358 RCV001047656 RCV001073686 RCV001250345 RCV001250359 RCV001250346 RCV001250347 RCV001250344 RCV001542666
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)	SNV Germline	Chr6:42698470	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Stargardt disease Retinal dystrophy PRPH2-related disorder Retinitis pigmentosa 7 Patterned macular dystrophy 1 Vitelliform macular dystrophy 3 Choroidal dystrophy, central areolar 2 Pigmentary retinal dystrophy	Criteria Provided Conflicting Classifications	CA226322	rs_62645939	11 SubmittersRCV000085028 RCV001161271 RCV001250360 RCV004815038 RCV001438086 RCV005394359
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)	SNV Germline	Chr6:42698398	Conflicting classifications of pathogenicity	Condition: not provided Adult-onset foveomacular vitelliform dystrophy Cone-rod dystrophy Patterned macular dystrophy 1 Choroidal dystrophy, central areolar 2 Pigmentary retinal dystrophy PRPH2-related disorder Stargardt disease Patterned dystrophy of the retinal pigment epithelium Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA226331	rs_61748434	9 SubmittersRCV000085034 RCV000261808 RCV000406549 RCV000298015 RCV000301680 RCV000356624 RCV001066591 RCV001250365 RCV001250366 RCV000787872 RCV004815041
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)	SNV Germline	Chr6:42722241	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease Vitelliform macular dystrophy 3 Retinal dystrophy PRPH2-related disorder not specified Optic atrophy Choroidal dystrophy, central areolar 2 Patterned macular dystrophy 1 Pigmentary retinal dystrophy Retinitis pigmentosa 7 Vitelliform macular dystrophy 3	Criteria Provided Conflicting Classifications	CA226333	rs_61755767	8 SubmittersRCV000085036 RCV001250380 RCV001352968 RCV003888461 RCV001462596 RCV001530276 RCV004815042 RCV005394360
NM_001034853.2(RPGR):c.1245+3A>G	SNV Germline	ChrX:38298953	Pathogenic	Retinitis pigmentosa 3 Condition: not provided Retinal dystrophy Primary ciliary dyskinesia RPGR-related retinopathy	Reviewed By Expert Panel	CA226348	rs_62635002	5 SubmittersRCV000010579 RCV000085047 RCV001073791 RCV002514520 RCV005415406
NM_001034853.2(RPGR):c.248-2A>G	SNV Unknown	ChrX:38321091	Pathogenic	Condition: not provided Retinitis pigmentosa	Criteria Provided Single Submitter	CA226394	rs_62638633	3 SubmittersRCV000085084 RCV000787714
NM_001034853.2(RPGR):c.415G>T (p.Glu139Ter)	SNV Germline	ChrX:38318883	Pathogenic	Condition: not provided Retinitis pigmentosa 3	Criteria Provided Single Submitter	CA226420	rs_62638645	2 SubmittersRCV000085106 RCV005252748
NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg)	SNV Germline	ChrX:38304665	Likely pathogenic	Condition: not provided Retinitis pigmentosa 3	No Assertion Criteria Provided	CA226457	rs_62640589	2 SubmittersRCV000085132 RCV001251553
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro)	SNV Germline	Chr1:68438237	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226480	rs_62646883	3 SubmittersRCV000085147 RCV001854496 RCV004801916
NM_000329.3(RPE65):c.11+5G>A	SNV Germline	Chr1:68449890	Pathogenic	Leber congenital amaurosis 2 Condition: not provided Retinal dystrophy Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy RPE65-related disorder Inborn genetic diseases	Reviewed By Expert Panel	CA226483	rs_61751276	24 SubmittersRCV000022752 RCV000085149 RCV000505050 RCV001275342 RCV000524808 RCV000678614 RCV002498448 RCV003460766 RCV004732661 RCV004955275
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	SNV Germline	Chr1:68446837	Pathogenic	Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Leber congenital amaurosis 2 Retinal dystrophy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226491	rs_61751281	11 SubmittersRCV000085155 RCV000132582 RCV001047503 RCV001275340 RCV001250675 RCV001074416 RCV002498450 RCV004527312
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)	SNV Germline	Chr1:68431491	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA226497	rs_62636298	5 SubmittersRCV000085159 RCV001041992 RCV001089894 RCV002509207
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)	SNV Germline	Chr1:68431371	Likely pathogenic	Condition: not provided Retinal dystrophy Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Inborn genetic diseases Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement	Reviewed By Expert Panel	CA226499	rs_62636299	8 SubmittersRCV000085160 RCV001074061 RCV004767068 RCV001323215 RCV003466997 RCV003764786 RCV004955276 RCV005025143
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	SNV Germline	Chr1:68446824	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 Autosomal recessive retinitis pigmentosa RPE65-related disorder RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226506	rs_61751282	9 SubmittersRCV000085166 RCV000701390 RCV001250676 RCV001275338 RCV001808321 RCV001257816 RCV004528783 RCV005620901
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)	SNV Germline	Chr1:68431131	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Multiple Submitters No Conflicts	CA226513	rs_62637006	6 SubmittersRCV000085172 RCV001250694 RCV002513922 RCV001376503
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)	SNV Germline	Chr1:68431097	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 RPE65-related recessive retinopathy Retinitis pigmentosa 20	Reviewed By Expert Panel	CA226515	rs_62637007	6 SubmittersRCV000085173 RCV001250706 RCV003764787 RCV004786365
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	SNV Germline	Chr1:68429927	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226517	rs_62653015	11 SubmittersRCV000085175 RCV001250703 RCV001826773 RCV001854497 RCV003764788 RCV005025144
NM_000329.3(RPE65):c.235T>C (p.Tyr79His)	SNV Germline	Chr1:68446720	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226528	rs_61752869	3 SubmittersRCV000085182 RCV003764790 RCV004801917
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	SNV Germline	Chr1:68444857	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa RPE65-related recessive retinopathy Inborn genetic diseases Retinal dystrophy Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226533	rs_61752873	12 SubmittersRCV000085186 RCV002247485 RCV001061074 RCV001275336 RCV001731373 RCV003764791 RCV003242980 RCV004815048 RCV005031578
NM_000329.3(RPE65):c.2T>C (p.Met1Thr)	SNV Germline	Chr1:68449904	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinal dystrophy Leber congenital amaurosis Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement	Criteria Provided Multiple Submitters No Conflicts	CA226537	rs_281865285	6 SubmittersRCV000085190 RCV001376504 RCV001377675 RCV004815049 RCV005606645 RCV005025145
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)	SNV Germline	Chr1:68444825	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement	Criteria Provided Single Submitter	CA226539	rs_62642584	2 SubmittersRCV000085191 RCV005031580
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	SNV Germline	Chr1:68444825	Pathogenic	Condition: not provided RPE65-related disorder Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Leber congenital amaurosis Retinal dystrophy RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226540	rs_62642584	11 SubmittersRCV000085192 RCV001249229 RCV000763389 RCV003467000 RCV001275333 RCV004815050 RCV003764793
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	SNV Germline	Chr1:68444656	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Inborn genetic diseases Leber congenital amaurosis Retinal dystrophy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226545	rs_61752877	13 SubmittersRCV000085195 RCV000538669 RCV000986332 RCV003242981 RCV001275332 RCV003888467 RCV002490740 RCV003764794
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)	SNV Germline	Chr1:68444596	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226550	rs_61752880	4 SubmittersRCV000085198 RCV001854498 RCV004566978 RCV004595854
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	SNV Germline	Chr1:68440997	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related disorder Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement	Reviewed By Expert Panel	CA226557	rs_61752883	11 SubmittersRCV000085203 RCV000678617 RCV001250708 RCV001831894 RCV000778252 RCV001245153 RCV004527316 RCV005031581
NM_000329.3(RPE65):c.544C>T (p.His182Tyr)	SNV Germline	Chr1:68440952	Pathogenic	Condition: not provided Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226559	rs_61752884	5 SubmittersRCV000085205 RCV001257821 RCV001388257 RCV004566979 RCV004527317
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	SNV Germline	Chr1:68448653	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226576	rs_61751277	10 SubmittersRCV000085218 RCV001218527 RCV002222384 RCV003764796 RCV001250672
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	SNV Germline	Chr1:68439571	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226579	rs_61752896	9 SubmittersRCV000085220 RCV001207227 RCV000678618 RCV005357534 RCV001831895 RCV003764797
NM_000329.3(RPE65):c.858+1G>A	SNV Germline	Chr1:68439190	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA226582	rs_61752899	3 SubmittersRCV000085223 RCV001250702 RCV001388254
NM_000329.3(RPE65):c.858+1G>T	SNV Germline	Chr1:68439190	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA226583	rs_61752899	3 SubmittersRCV000085224 RCV001270786 RCV002513924
NM_000329.3(RPE65):c.95-2A>T	SNV Germline	Chr1:68446862	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy Retinal dystrophy Leber congenital amaurosis 2 Retinitis pigmentosa 20	Reviewed By Expert Panel	CA226591	rs_61751279	14 SubmittersRCV000085232 RCV000668398 RCV001003189 RCV002498451 RCV003460771 RCV001074560 RCV001250674 RCV005252750
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)	SNV Germline	Chr1:68438988	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA226592	rs_61752905	6 SubmittersRCV000085233 RCV001089895 RCV001854499 RCV003323394
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)	SNV Germline	Chr1:68438951	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226599	rs_61752908	5 SubmittersRCV000085237 RCV001250691 RCV000808234 RCV005606646 RCV005620903
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	SNV Germline	Chr1:94079421	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Retinal dystrophy Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA226872	rs_61748549	13 SubmittersRCV000085376 RCV000764205 RCV000986372 RCV001096640 RCV001073759 RCV001257823 RCV005357535
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)	SNV Germline	Chr1:94079339	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 Retinitis pigmentosa Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA179692	rs_61748550	11 SubmittersRCV000085378 RCV000152707 RCV001074409 RCV002513925 RCV003398695 RCV004558301
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His)	SNV Germline	Chr1:94063262	Conflicting classifications of pathogenicity	Condition: not provided Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Macular degeneration Retinal dystrophy ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA226906	rs_61752395	6 SubmittersRCV000085407 RCV000276834 RCV000315522 RCV000363019 RCV000369062 RCV001074421 RCV001100054
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)	SNV Germline	Chr1:94111579	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease ABCA4-related disorder Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA226908	rs_150774447	10 SubmittersRCV000085408 RCV000210980 RCV000826094 RCV004529882 RCV004815079 RCV005031583
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)	SNV Germline	Chr1:94063224	Pathogenic/Likely pathogenic	Condition: not provided ABCA4-related disorder Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA226915	rs_61748558	12 SubmittersRCV000085413 RCV000778263 RCV000782281 RCV000763048 RCV000761253 RCV001074836 RCV004558302
NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro)	SNV Germline	Chr1:94063157	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA226919	rs_61748559	5 SubmittersRCV000085417 RCV001074238 RCV004800281
NM_000350.3(ABCA4):c.1760+2T>G	SNV Germline	Chr1:94063110	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA226922	rs_61751385	6 SubmittersRCV000085420 RCV000132587 RCV003888471 RCV005031584 RCV005252751
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	SNV Germline	Chr1:94111561	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA226931	rs_55732384	8 SubmittersRCV000085427 RCV000408452 RCV000763051 RCV001073359 RCV004558304
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	SNV Germline	Chr1:94062710	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Retinitis pigmentosa ABCA4-related disorder Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Stargardt disease Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA226932	rs_61749409	23 SubmittersRCV000085428 RCV000504951 RCV000408597 RCV000850520 RCV001353025 RCV002250560 RCV001723664 RCV001849310 RCV002498452 RCV003324506 RCV004558305
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)	SNV Germline	Chr1:94062611	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA226949	rs_61749414	6 SubmittersRCV000085440 RCV000408491 RCV004815083 RCV005055575
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)	SNV Germline	Chr1:94062587	Conflicting classifications of pathogenicity	Condition: not provided not specified Cone-Rod Dystrophy, Recessive Macular degeneration Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA201008	rs_61749417	9 SubmittersRCV000085445 RCV000174470 RCV000318324 RCV000260757 RCV000353201 RCV000356519 RCV000986369 RCV001075850 RCV001098279
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)	SNV Germline	Chr1:94062586	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder Cone-rod dystrophy 3 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA226958	rs_61754024	13 SubmittersRCV000085446 RCV000408583 RCV001074170 RCV001098278 RCV004720237 RCV005364979
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn)	SNV Germline	Chr1:94062581	Pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA226960	rs_61749418	6 SubmittersRCV000085447 RCV001074983 RCV004689454 RCV005025146
NM_000350.3(ABCA4):c.1937+1G>A	SNV Germline	Chr1:94062576	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Stargardt disease 3 See cases Cone dystrophy and rod monochromatism Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226961	rs_61752401	12 SubmittersRCV000085448 RCV000408499 RCV001542645 RCV004558306 RCV004584346 RCV005417459 RCV004815084
NM_000350.3(ABCA4):c.1938-1G>A	SNV Germline	Chr1:94060760	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Condition: not provided Macular dystrophy	Criteria Provided Single Submitter	CA226963	rs_61751263	4 SubmittersRCV000008351 RCV000008352 RCV000085450 RCV000504968
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)	SNV Germline	Chr1:94111546	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA226964	rs_62654395	7 SubmittersRCV000085451 RCV000132588 RCV001074366 RCV002490741
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)	SNV Germline	Chr1:94060740	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226965	rs_61749420	13 SubmittersRCV000085452 RCV000408546 RCV000763047 RCV001074668 RCV004732662
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)	SNV Germline	Chr1:94111537	Pathogenic/Likely pathogenic	Condition: not provided Abnormal macular morphology Peripheral neuropathy Abnormal retinal morphology Retinal dystrophy Age related macular degeneration 2 ABCA4-related disorder Retinitis pigmentosa Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA226972	rs_62654397	9 SubmittersRCV000085457 RCV000414796 RCV000626666 RCV001074514 RCV001198384 RCV004529883 RCV004586547 RCV004796008
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	SNV Germline	Chr1:94060656	Pathogenic/Likely pathogenic	Condition: not provided Benign concentric annular macular dystrophy Leber congenital amaurosis Severe early-childhood-onset retinal dystrophy Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Stargardt disease 3 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226973	rs_61749423	17 SubmittersRCV000085458 RCV000210310 RCV000504983 RCV000408512 RCV001073628 RCV001195987 RCV005025147 RCV004558307 RCV004732663
NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly)	SNV Germline	Chr1:94111517	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA226985	rs_61748526	4 SubmittersRCV000085466 RCV000504688 RCV004782054
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp)	SNV Germline	Chr1:94056683	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA226990	rs_61751395	9 SubmittersRCV000085471 RCV000408526 RCV001074642 RCV004732664 RCV005406818
NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg)	SNV Germline	Chr1:94055237	Pathogenic	Condition: not provided Retinal dystrophy ABCA4-related disorder Retinitis pigmentosa Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227001	rs_61749433	7 SubmittersRCV000085480 RCV001075705 RCV004732665 RCV004586548 RCV005025148
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)	SNV Germline	Chr1:94055138	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Conflicting Classifications	CA227010	rs_61749437	7 SubmittersRCV000085487 RCV000504877 RCV001075467 RCV005025149
NM_000350.3(ABCA4):c.2617T>C (p.Phe873Leu)	SNV Germline	Chr1:94051669	Pathogenic	Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227018	rs_62642570	3 SubmittersRCV000085496 RCV003235038
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)	SNV Germline	Chr1:94048921	Conflicting classifications of pathogenicity	Condition: not provided Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Macular degeneration Age related macular degeneration 2 ABCA4-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA227022	rs_61749440	11 SubmittersRCV000085500 RCV000375069 RCV000260644 RCV000280747 RCV000315748 RCV001197697 RCV001096530 RCV004815090
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)	SNV Germline	Chr1:94111454	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227042	rs_61748529	11 SubmittersRCV000085515 RCV000986376 RCV005025150 RCV004815092
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)	SNV Germline	Chr1:94046960	Conflicting classifications of pathogenicity	Condition: not provided Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Macular degeneration Stargardt Disease, Recessive ABCA4-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA227045	rs_61754033	5 SubmittersRCV000085518 RCV000271906 RCV000287276 RCV000377007 RCV000322409 RCV001099949 RCV004815093
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)	SNV Germline	Chr1:94046925	Pathogenic/Likely pathogenic	Condition: not provided not specified Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227050	rs_61749450	5 SubmittersRCV000085522 RCV000999861 RCV002225080 RCV005031585
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	SNV Germline	Chr1:94046922	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227051	rs_61749451	7 SubmittersRCV000085523 RCV000504717 RCV000505078 RCV002498454 RCV004732666
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)	SNV Germline	Chr1:94044697	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Conflicting Classifications	CA227059	rs_61749454	10 SubmittersRCV000085529 RCV000504904 RCV001074424 RCV004732667 RCV005025151
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)	SNV Germline	Chr1:94044692	Conflicting classifications of pathogenicity	Condition: not provided Macular dystrophy Retinal dystrophy Age related macular degeneration 2 ABCA4-related disorder Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Optic atrophy	Criteria Provided Conflicting Classifications	CA227061	rs_61749455	13 SubmittersRCV000085531 RCV000505091 RCV001073380 RCV002247488 RCV004529886 RCV003989317 RCV005025152 RCV004699118 RCV004815096
NM_000350.3(ABCA4):c.3050+5G>A	SNV Germline	Chr1:94044608	Pathogenic	Condition: not provided Stargardt disease Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227073	rs_61751262	6 SubmittersRCV000085541 RCV001002836 RCV001073618 RCV005025153
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala)	SNV Germline	Chr1:94043471	Pathogenic	Condition: not provided Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227075	rs_61749457	3 SubmittersRCV000085543 RCV004796009
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)	SNV Germline	Chr1:94043462	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis pigmentosa ABCA4-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227078	rs_61749459	9 SubmittersRCV000085545 RCV000408496 RCV003324507 RCV004800282 RCV004529887 RCV004815097
NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp)	SNV Germline	Chr1:94043377	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227083	rs_61750062	4 SubmittersRCV000085550 RCV005025154 RCV004815099
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu)	SNV Germline	Chr1:94042877	Pathogenic	Condition: not provided ABCA4-related disorder Cone-rod dystrophy Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227093	rs_61750065	8 SubmittersRCV000085559 RCV002255094 RCV003324508 RCV004689455 RCV004815102 RCV005025155
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)	SNV Germline	Chr1:94042830	Pathogenic	Condition: not provided Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Abnormality of the eye Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Cone-rod dystrophy 3 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227097	rs_61751398	13 SubmittersRCV000085562 RCV001075833 RCV001199228 RCV001808323 RCV001814057 RCV002498455 RCV002466427 RCV004732669
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)	SNV Germline	Chr1:94121014	Pathogenic/Likely pathogenic	Condition: not provided ABCA4-related disorder Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227106	rs_62645946	10 SubmittersRCV000085568 RCV000779010 RCV001074134 RCV002247489 RCV001723665 RCV002051808 RCV003324509 RCV003324510 RCV005025156
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)	SNV Germline	Chr1:94041345	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy Age related macular degeneration 2 ABCA4-related disorder Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA227116	rs_1801269	12 SubmittersRCV000085576 RCV000408578 RCV000763045 RCV001075726 RCV001199211 RCV004732670 RCV005252752
NM_000350.3(ABCA4):c.3749T>C (p.Leu1250Pro)	SNV Germline	Chr1:94037209	Likely pathogenic	Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227132	rs_61750128	3 SubmittersRCV000085590 RCV005417460

NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg)

SNV
Germline

Chr2:27378156

Conflicting classifications of pathogenicity

Retinitis pigmentosa 58
Condition: not provided

Criteria Provided
Conflicting Classifications

CA251354

rs_267607182

3 SubmittersRCV000000045 RCV001239265

NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter)

SNV
Germline

Chr2:61840319

Pathogenic

Retinitis pigmentosa 28
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251355

rs_267606794

11 SubmittersRCV000000052 RCV001074032 RCV001257835 RCV001090971

NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)

SNV
Germline

Chr2:61839695

Pathogenic

Retinitis pigmentosa 28
Condition: not provided
Cone-rod dystrophy
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA233978

rs_200691042

22 SubmittersRCV000000053 RCV000153226 RCV000678572 RCV000787604 RCV000778621

NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)

SNV
Germline

Chr2:61839437

Pathogenic

Retinitis pigmentosa 28
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA233972

rs_202193201

17 SubmittersRCV000000055 RCV000787606 RCV000790648 RCV001003031

NM_001201543.2(FAM161A):c.1786C>T (p.Arg596Ter)

SNV
Germline

Chr2:61836075

Pathogenic

Retinitis pigmentosa 28
Condition: not provided

Criteria Provided
Single Submitter

CA251358

rs_267606793

3 SubmittersRCV000000056 RCV001054497

NM_001029883.3(PCARE):c.759G>A (p.Trp253Ter)

SNV
Germline

Chr2:29073503

Pathogenic

Retinitis pigmentosa 54

No Assertion Criteria Provided

CA346481613

rs_2148416762

1 SubmittersRCV000000121

NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter)

SNV
Germline

Chr2:29073706

Pathogenic

Retinitis pigmentosa 54
Retinitis pigmentosa

No Assertion Criteria Provided

CA251388

rs_267606691

2 SubmittersRCV000000124 RCV001002905

NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter)

SNV
Germline

Chr6:64436244

Pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251491

rs_137853189

6 SubmittersRCV000000567 RCV001387157

NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)

SNV
Germline

Chr6:63720626

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
EYS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA251493

rs_137853190

16 SubmittersRCV000000568 RCV000593252 RCV001075385 RCV001723527 RCV003914789

NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter)

SNV
Germline

Chr4:15537074

Pathogenic

Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2863751

rs_116358011

4 SubmittersRCV000000778 RCV001385996 RCV005024978 RCV005409592

NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)

SNV
Germline

Chr4:15599614

Pathogenic/Likely pathogenic

Joubert syndrome 9
Condition: not provided
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
Joubert syndrome 9
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA114471

rs_118204052

9 SubmittersRCV000000780 RCV000445290 RCV001269034 RCV003234885 RCV003764503 RCV004532267 RCV005031374

NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)

SNV
Germline

Chr4:15559183

Pathogenic

Joubert syndrome 9
Condition: not provided
Inborn genetic diseases
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA114473

rs_118204053

9 SubmittersRCV000000781 RCV000727257 RCV001266487 RCV002512617 RCV004528061 RCV005222657

NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)

SNV
Germline

Chr4:15563485

Pathogenic

COACH syndrome 2
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9/15, digenic
Condition: not provided
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9
See cases
Inborn genetic diseases
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA129544

rs_386833750

8 SubmittersRCV000000783 RCV000199602 RCV000023922 RCV000578695 RCV002476904 RCV002251848 RCV005305943 RCV004795365

NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)

SNV
Germline

Chr4:15567735

Conflicting classifications of pathogenicity

COACH syndrome 2
Condition: not provided
Joubert syndrome 9
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA210343

rs_267606709

6 SubmittersRCV000000784 RCV000729670 RCV000201781 RCV001383566 RCV005031375

NM_001031710.3(KLHL7):c.449G>A (p.Ser150Asn)

SNV
Germline

Chr7:23140775

Pathogenic/Likely pathogenic

Retinitis pigmentosa 42
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251665

rs_137853112

3 SubmittersRCV000001063 RCV001383036

NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)

SNV
Germline

Chr7:23140784

Pathogenic/Likely pathogenic

Retinitis pigmentosa 42
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA221427

rs_137853113

12 SubmittersRCV000001064 RCV000079374 RCV001003071 RCV001073803

NM_001031710.3(KLHL7):c.457G>A (p.Ala153Thr)

SNV
Germline

Chr7:23140783

Pathogenic

Retinitis pigmentosa 42
Retinal dystrophy

Criteria Provided
Single Submitter

CA251666

rs_137853114

2 SubmittersRCV000001065 RCV004814788

NM_152419.3(HGSNAT):c.493+1G>A

SNV
Germline

Chr8:43159045

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114861

rs_193066451

8 SubmittersRCV000001289 RCV000780343 RCV000763183 RCV002512639 RCV005414443

NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)

SNV
Germline

Chr8:43173740

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA114863

rs_121908282

9 SubmittersRCV000001291 RCV000512873 RCV000504894 RCV000763184 RCV003330379 RCV005252654

NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)

SNV
Germline

Chr8:43193824

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA114867

rs_121908284

4 SubmittersRCV000001293 RCV001378638 RCV003323346 RCV004984634

NM_152419.3(HGSNAT):c.372-2A>G

SNV
Germline

Chr8:43158921

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Sanfilippo syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114870

rs_483352896

7 SubmittersRCV000001295 RCV001067306 RCV000586364 RCV005429210

NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)

SNV
Germline

Chr8:43182162

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis
Sanfilippo syndrome
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA114871

rs_121908285

13 SubmittersRCV000001296 RCV000799182 RCV001030801 RCV003114169 RCV001699017 RCV003887846

NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe)

SNV
Germline

Chr8:43197682

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Condition: not provided
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA114873

rs_121908286

4 SubmittersRCV000001297 RCV001723529 RCV001851534

NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)

SNV
Germline

Chr12:88077263

Pathogenic/Likely pathogenic

Joubert syndrome 5
Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Meckel-Gruber syndrome
Retinal dystrophy
Retinitis pigmentosa
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 6
Leber congenital amaurosis
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
COG7 congenital disorder of glycosylation
Abnormality of the nervous system
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA150917

rs_137852832

31 SubmittersRCV000001396 RCV000086298 RCV000531295 RCV000114202 RCV001073790 RCV000787813 RCV000515339 RCV001261607 RCV001276487 RCV001000092 RCV001002714 RCV001815157 RCV001836688 RCV001542773 RCV001836689 RCV004798711 RCV003147273

NM_025114.4(CEP290):c.2991+1655A>G

SNV
Germline

Chr12:88101183

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Condition: not provided
Retinitis pigmentosa
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 1
Retinal dystrophy
Intellectual disability
Joubert syndrome 5
CEP290-related disorder
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227965

rs_281865192

25 SubmittersRCV000001400 RCV000086286 RCV000678535 RCV000558460 RCV000763315 RCV000988884 RCV001075828 RCV001255341 RCV001196010 RCV001731267 RCV001831503 RCV003460403

NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)

SNV
Germline

Chr14:88437565

Pathogenic/Likely pathogenic

Leber congenital amaurosis 3
Condition: not provided
Retinitis pigmentosa 94, variable age at onset
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA339895

rs_75895925

10 SubmittersRCV000001462 RCV001291573 RCV002260581 RCV003485517 RCV003887848

NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)

SNV
Germline

Chr17:6468237

Conflicting classifications of pathogenicity

Cone-rod dystrophy 5
not specified
Condition: not provided
Retinitis pigmentosa
PITPNM3-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA234554

rs_76024428

11 SubmittersRCV000002071 RCV000153697 RCV000512878 RCV000787861 RCV003934792 RCV004814793

NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter)

SNV
Germline

Chr3:97788004

Pathogenic

Bardet-Biedl syndrome 3
Bardet-Biedl syndrome
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252067

rs_104893678

4 SubmittersRCV000002120 RCV001002871 RCV002512667 RCV004814794

NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)

SNV
Germline

Chr3:97791797

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1, modifier of
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA115313

rs_104893679

3 SubmittersRCV000002121 RCV000002122 RCV002512668 RCV005024988

NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)

SNV
Germline

Chr3:97768199

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Condition: not provided
Bardet-Biedl syndrome 1
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA252069

rs_104893680

5 SubmittersRCV000002123 RCV001723532 RCV001851573 RCV003133114 RCV005031381

NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)

SNV
Germline

Chr3:97768199

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 1
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252073

rs_104893680

4 SubmittersRCV000002125 RCV001063683 RCV005024989 RCV004814795

NM_001278293.3(ARL6):c.266C>T (p.Ala89Val)

SNV
Germline

Chr3:97784966

Likely pathogenic

Retinitis pigmentosa 55
Autosomal recessive retinitis pigmentosa

Criteria Provided
Single Submitter

CA252075

rs_587777805

3 SubmittersRCV000002126 RCV001257838

NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)

SNV
Germline

Chr14:67726086

Pathogenic

Leber congenital amaurosis 13
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252083

rs_104894474

7 SubmittersRCV000002132 RCV000787672 RCV001091054 RCV004814797

NM_152443.3(RDH12):c.451C>G (p.His151Asp)

SNV
Germline

Chr14:67726983

Pathogenic

Leber congenital amaurosis 13
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252087

rs_104894475

7 SubmittersRCV000002135 RCV000787674 RCV001171675 RCV004814798

NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)

SNV
Germline

Chr14:67725206

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252088

rs_28940315

19 SubmittersRCV000002136 RCV000594844 RCV000993758 RCV001075855 RCV001277202

NM_152443.3(RDH12):c.658+1G>A

SNV
Germline

Chr14:67727191

Pathogenic

Leber congenital amaurosis 13
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA252091

rs_387906272

5 SubmittersRCV000002139 RCV001003155

NM_152443.3(RDH12):c.377C>T (p.Ala126Val)

SNV
Germline

Chr14:67726084

Pathogenic/Likely pathogenic

Retinitis pigmentosa 53
Retinitis pigmentosa
Retinal dystrophy
Leber congenital amaurosis 13
Condition: not provided
Leber congenital amaurosis
RDH12-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA115315

rs_202126574

11 SubmittersRCV000002142 RCV000132691 RCV001073666 RCV001223788 RCV001558134 RCV003155010 RCV004734494

NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)

SNV
Germline

Chr8:10623069

Pathogenic/Likely pathogenic

Occult macular dystrophy
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 88
Optic atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA115397

rs_267607017

17 SubmittersRCV000002277 RCV000726920 RCV001074376 RCV001197672 RCV004814802

NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)

SNV
Germline

Chr1:216325492

Pathogenic

Usher syndrome type 2A
Condition: not provided
Usher syndrome
Retinal dystrophy
Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Reviewed By Expert Panel

CA252231

rs_121912599

12 SubmittersRCV000002449 RCV000303941 RCV001004780 RCV001074393 RCV000824798 RCV003460406 RCV005007808

NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)

SNV
Germline

Chr1:216247118

Pathogenic

Retinitis pigmentosa 39
Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Usher syndrome
USH2A-related disorder
Inborn genetic diseases
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Ear malformation
See cases

Reviewed By Expert Panel

CA252233

rs_80338902

48 SubmittersRCV000002450 RCV000032523 RCV000174625 RCV000239000 RCV000504814 RCV000505146 RCV000404009 RCV000623925 RCV001257905 RCV001535506 RCV001813938 RCV002251859

NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)

SNV
Germline

Chr1:215728232

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Congenital sensorineural hearing impairment
Hearing impairment
Condition: not provided
Retinitis pigmentosa
Rare genetic deafness
Usher syndrome
Usher syndrome type 2
Retinal dystrophy
USH2A-related disorder
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 3A
Usher syndrome
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA252235

rs_111033364

35 SubmittersRCV000002451 RCV000412373 RCV000415089 RCV000414867 RCV000414231 RCV000504922 RCV000824781 RCV001003260 RCV001074873 RCV001813732 RCV002476913 RCV003314546 RCV003114173 RCV004584307

NM_206933.4(USH2A):c.949C>A (p.Arg317=)

SNV
Germline

Chr1:216325499

Pathogenic

Usher syndrome type 2A
Condition: not provided
Pigmentary retinopathy
Abnormal macular morphology
Retinal pigment epithelial atrophy
Rod-cone dystrophy
Blindness
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Rare genetic deafness
Retinal dystrophy
Usher syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA252237

rs_111033272

20 SubmittersRCV000002452 RCV000412796 RCV000627017 RCV000763297 RCV000984234 RCV000824799 RCV001075725 RCV001199595

NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)

SNV
Germline

Chr1:216324240

Pathogenic

Usher syndrome type 2A
Condition: not provided
Usher syndrome
USH2A-related disorder
Rare genetic deafness
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA252239

rs_121912600

23 SubmittersRCV000002453 RCV000224697 RCV000504809 RCV000778222 RCV000824795 RCV000984315 RCV001074823 RCV002482817

NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)

SNV
Germline

Chr1:216247185

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2
Rare genetic deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA252242

rs_111033334

12 SubmittersRCV000002456 RCV000002457 RCV000725261 RCV001003279 RCV000824794

NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)

SNV
Germline

Chr1:215671085

Likely pathogenic

Retinitis pigmentosa 39
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA252244

rs_80338904

4 SubmittersRCV000002458 RCV000032522 RCV001379272

NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)

SNV
Germline

Chr2:181558617

Pathogenic/Likely pathogenic

Retinitis pigmentosa 26
Retinitis pigmentosa
Retinal dystrophy
Cone dystrophy
Retinal pigment epithelial atrophy
Condition: not provided
Cone-rod dystrophy
See cases
CERKL-related disorder
CERKL-related retinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA252246

rs_121909398

30 SubmittersRCV000002460 RCV000504646 RCV000504807 RCV000626731 RCV000725950 RCV000678538 RCV002251860 RCV003407259 RCV005357058

NM_144596.4(TTC8):c.489G>A (p.Thr163=)

SNV
Germline

Chr14:88841196

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 8
Bardet-Biedl syndrome
Retinitis pigmentosa 51
Truncal obesity
Postaxial foot polydactyly
Intellectual disability, moderate
Retinal dystrophy
TTC8-related disorder
Retinitis pigmentosa 51
Bardet-Biedl syndrome 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339995

rs_119103286

12 SubmittersRCV000002639 RCV000203928 RCV001197566 RCV000415339 RCV001074706 RCV003415630 RCV005007809 RCV005434586

NM_144596.4(TTC8):c.115-2A>G

SNV
Germline

Chr14:88833691

Likely pathogenic

Retinitis pigmentosa 51
Retinal dystrophy

Criteria Provided
Single Submitter

CA339998

rs_587777809

2 SubmittersRCV000002641 RCV004794322

NM_004183.4(BEST1):c.140G>A (p.Arg47His)

SNV
Germline

Chr11:61951946

Pathogenic/Likely pathogenic

Vitelliform macular dystrophy 2
Condition: not provided
Retinal dystrophy
Autosomal dominant vitreoretinochoroidopathy
Autosomal recessive bestrophinopathy
Retinitis pigmentosa 50
Vitelliform macular dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227724

rs_28940278

9 SubmittersRCV000002860 RCV000086086 RCV004814810 RCV004795367

NM_004183.4(BEST1):c.598C>T (p.Arg200Ter)

SNV
Germline

Chr11:61956960

Pathogenic

Autosomal recessive bestrophinopathy
Condition: not provided
Retinitis pigmentosa 50
Vitelliform macular dystrophy 2
Autosomal recessive bestrophinopathy
Autosomal dominant vitreoretinochoroidopathy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA115725

rs_121918286

4 SubmittersRCV000002864 RCV001202565 RCV002490299 RCV004814811

NM_004183.4(BEST1):c.614T>C (p.Ile205Thr)

SNV
Germline

Chr11:61956976

Pathogenic

Retinitis pigmentosa 50
Condition: not provided

Criteria Provided
Single Submitter

CA252411

rs_267606680

2 SubmittersRCV000002870 RCV001382239

NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)

SNV
Germline

Chr11:61957432

Conflicting classifications of pathogenicity

Retinitis pigmentosa 50
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA115732

rs_267606676

8 SubmittersRCV000002871 RCV000417725 RCV000787545 RCV001073474

NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys)

SNV
Germline

Chr11:61957430

Pathogenic/Likely pathogenic

Vitelliform macular dystrophy 2
Retinitis pigmentosa 50
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115733

rs_267606677

4 SubmittersRCV000002873 RCV000002874 RCV000086158

NM_004183.4(BEST1):c.418C>G (p.Leu140Val)

SNV
Germline

Chr11:61955888

Conflicting classifications of pathogenicity

Retinitis pigmentosa 50
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA252412

rs_267606678

4 SubmittersRCV000002875 RCV000726591 RCV000787540

NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)

SNV
Germline

Chr1:150344216

Pathogenic

Retinitis pigmentosa 18
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252736

rs_121434241

10 SubmittersRCV000003516 RCV000726757 RCV001003129 RCV001074785

NM_004698.4(PRPF3):c.1477C>T (p.Pro493Ser)

SNV
Germline

Chr1:150344212

Pathogenic

Retinitis pigmentosa 18
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252737

rs_121434242

4 SubmittersRCV000003517 RCV001565464 RCV004814816

NM_004698.4(PRPF3):c.1466C>A (p.Ala489Asp)

SNV
Germline

Chr1:150344201

Pathogenic

Retinitis pigmentosa 18

No Assertion Criteria Provided

CA252738

rs_121434243

1 SubmittersRCV000003518

NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg)

SNV
Germline

Chr17:1650884

Pathogenic

Retinitis pigmentosa 13
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252740

rs_121434236

3 SubmittersRCV000003519 RCV001073694 RCV001385146

NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro)

SNV
Germline

Chr17:1650884

Pathogenic/Likely pathogenic

Retinitis pigmentosa 13
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252741

rs_121434236

3 SubmittersRCV000003520 RCV001073295

NM_006445.4(PRPF8):c.6929G>A (p.Arg2310Lys)

SNV
Germline

Chr17:1650881

Pathogenic

Retinitis pigmentosa 13
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252742

rs_121434238

3 SubmittersRCV000003521 RCV001074988 RCV001851617

NM_006445.4(PRPF8):c.6901C>A (p.Pro2301Thr)

SNV
Germline

Chr17:1650909

Likely pathogenic

Retinitis pigmentosa 13
Condition: not provided

Criteria Provided
Single Submitter

CA252743

rs_121434239

2 SubmittersRCV000003522 RCV001242192

NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu)

SNV
Germline

Chr17:1650898

Pathogenic/Likely pathogenic

Retinitis pigmentosa 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252744

rs_121434240

3 SubmittersRCV000003523 RCV001268615

NM_022367.4(SEMA4A):c.1049T>G (p.Phe350Cys)

SNV
Germline

Chr1:156163009

Pathogenic

Cone-rod dystrophy 10
Retinitis pigmentosa 35

No Assertion Criteria Provided

CA116162

rs_267607034

1 SubmittersRCV000003527 RCV000003526

NM_016247.4(IMPG2):c.635C>G (p.Ser212Ter)

SNV
Germline

Chr3:101275694

Pathogenic

Retinitis pigmentosa 56
Retinitis pigmentosa

No Assertion Criteria Provided

CA252810

rs_267606874

2 SubmittersRCV000003724 RCV001003056

NM_016247.4(IMPG2):c.2716C>T (p.Arg906Ter)

SNV
Germline

Chr3:101243615

Pathogenic

Retinitis pigmentosa 56
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252813

rs_267606876

6 SubmittersRCV000003726 RCV001207781 RCV003887851

NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter)

SNV
Germline

Chr3:101242820

Pathogenic

Retinitis pigmentosa 56
Macular dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252815

rs_267606875

4 SubmittersRCV000003727 RCV000787843 RCV001053603 RCV003887852

NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu)

SNV
Germline

Chr3:101304277

Conflicting classifications of pathogenicity

Vitelliform macular dystrophy 5
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 56
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA116343

rs_201893545

5 SubmittersRCV000003728 RCV001053107 RCV001003057 RCV004786236 RCV004814820

NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)

SNV
Germline

Chr1:46192397

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Retinal dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA116547

rs_28940869

12 SubmittersRCV000150001 RCV000984302 RCV000984210 RCV000984301 RCV000984303 RCV001219572 RCV002222337 RCV001847573 RCV002512738 RCV004814821 RCV005025002

NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)

SNV
Germline

Chr1:46197018

Pathogenic

Retinitis pigmentosa 76
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA116550

rs_193919337

7 SubmittersRCV000240891 RCV001529546 RCV001390610 RCV001847575 RCV004566681 RCV005016236

NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)

SNV
Germline

Chr1:46189973

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
not specified
Muscle eye brain disease
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Structural eye disease

Criteria Provided
Conflicting Classifications

CA116557

rs_74374973

15 SubmittersRCV000004204 RCV000081801 RCV000671438 RCV000710195 RCV001082774 RCV001097781 RCV001579237 RCV001449938 RCV001579238 RCV005400692

NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)

SNV
Germline

Chr1:46192168

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
POMGNT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116564

rs_267606960

11 SubmittersRCV000004207 RCV000411094 RCV000798530 RCV001091843 RCV002476922 RCV003460424 RCV002512742 RCV004532285

NM_015629.4(PRPF31):c.646G>C (p.Ala216Pro)

SNV
Germline

Chr19:54123867

Pathogenic

Retinitis pigmentosa 11

No Assertion Criteria Provided

CA253133

rs_119475042

1 SubmittersRCV000004607

NM_015629.4(PRPF31):c.527+3A>G

SNV
Germline

Chr19:54123563

Pathogenic/Likely pathogenic

Retinitis pigmentosa 11
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253135

rs_587776590

4 SubmittersRCV000004608 RCV001073395 RCV001851647

NM_015629.4(PRPF31):c.581C>A (p.Ala194Glu)

SNV
Germline

Chr19:54123802

Pathogenic

Retinitis pigmentosa 11

No Assertion Criteria Provided

CA253137

rs_119475043

1 SubmittersRCV000004610

NM_015629.4(PRPF31):c.1374+654C>G

SNV
Germline

Chr19:54130024

Pathogenic

Retinitis pigmentosa 11
Condition: not provided

Criteria Provided
Single Submitter

CA253139

rs_587776591

2 SubmittersRCV000004614 RCV001092520

NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)

SNV
Germline

Chr3:150928107

Pathogenic/Likely pathogenic

Usher syndrome type 3
Condition: not provided
Hearing impairment
Retinitis pigmentosa
Retinitis pigmentosa 61
Retinitis pigmentosa 61
Usher syndrome type 3A
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA000001

rs_121908140

14 SubmittersRCV000004642 RCV000724158 RCV001375084 RCV002247246 RCV003466811 RCV002496258

NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro)

SNV
Germline

Chr3:150928186

Likely pathogenic

Usher syndrome type 3
Retinitis pigmentosa 61

Criteria Provided
Single Submitter

CA116829

rs_121908142

2 SubmittersRCV000004646 RCV003466813

NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)

SNV
Germline

Chr3:150972520

Pathogenic

Usher syndrome type 3
Retinitis pigmentosa
Rare genetic deafness
CLRN1-related disorder
Usher syndrome type 3A
Condition: not provided
Retinitis pigmentosa 61
Retinitis pigmentosa 61
Usher syndrome type 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA116834

rs_111033267

12 SubmittersRCV000004647 RCV000505037 RCV000844690 RCV003407275 RCV001376502 RCV001384937 RCV003466814 RCV005031388

NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)

SNV
Germline

Chr3:150972591

Conflicting classifications of pathogenicity

Usher syndrome type 3
Condition: not provided
Usher syndrome type 3A
Usher syndrome
CLRN1-related disorder
Retinal dystrophy
Retinitis pigmentosa 61
Retinitis pigmentosa 61
Usher syndrome type 3A

Criteria Provided
Conflicting Classifications

CA116839

rs_121908143

14 SubmittersRCV000004649 RCV000414238 RCV001273484 RCV002468960 RCV004754242 RCV001075346 RCV003466815 RCV005031389

NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)

SNV
Germline

Chr20:3918695

Pathogenic

Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Pigmentary pallidal degeneration
Inborn genetic diseases
Condition: not provided
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Retinitis pigmentosa
Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA116915

rs_137852959

19 SubmittersRCV000132732 RCV000004807 RCV000190815 RCV000224470 RCV004766980 RCV001588799 RCV002496261

NM_031885.5(BBS2):c.224T>G (p.Val75Gly)

SNV
Germline

Chr16:56514574

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA253233

rs_121908174

6 SubmittersRCV000004831 RCV001002877 RCV005411280

NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)

SNV
Germline

Chr16:56519791

Pathogenic/Likely pathogenic

BARDET-BIEDL SYNDROME 2/6, DIGENIC
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinal dystrophy
Retinitis pigmentosa
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
BBS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116926

rs_121908175

11 SubmittersRCV000004832 RCV000412476 RCV000589350 RCV001074960 RCV000787792 RCV000762970 RCV004732529

NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)

SNV
Germline

Chr16:56514623

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253235

rs_121908176

9 SubmittersRCV000004833 RCV000587533 RCV002490314 RCV003441704

NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)

SNV
Germline

Chr16:56502790

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Condition: not provided
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Retinal dystrophy
Retinitis pigmentosa 74
BBS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253237

rs_121908177

16 SubmittersRCV000004834 RCV000269226 RCV000493074 RCV000762967 RCV001074104 RCV002466394 RCV004528072

NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)

SNV
Germline

Chr16:56502454

Pathogenic/Likely pathogenic

Bardet-biedl syndrome 2/4, digenic
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Retinal dystrophy
Autosomal recessive retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA116928

rs_121908178

8 SubmittersRCV000004835 RCV001226053 RCV000675099 RCV005016240 RCV003887853 RCV001257834

NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)

SNV
Germline

Chr16:56514487

Pathogenic

Bardet-biedl syndrome 1/2, digenic
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Retinitis pigmentosa
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
BBS2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA116932

rs_121908179

12 SubmittersRCV000004839 RCV000587645 RCV000190985 RCV001002876 RCV000665304 RCV000762969 RCV004532290 RCV001582466

NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)

SNV
Germline

Chr16:56496982

Pathogenic

Bardet-Biedl syndrome 2
BBS2-related disorder
Retinitis pigmentosa 74
Retinitis pigmentosa
Retinal dystrophy
Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA060272

rs_138043021

18 SubmittersRCV000004840 RCV000380902 RCV000190986 RCV001002874 RCV001073916 RCV000589221 RCV001268711 RCV002490315 RCV002512776

NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)

SNV
Germline

Chr16:56506191

Pathogenic

BARDET-BIEDL SYNDROME 2/6, DIGENIC
Retinal dystrophy
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA116935

rs_121908180

10 SubmittersRCV000004845 RCV000787791 RCV001056084 RCV000668482 RCV005016241

NM_006343.3(MERTK):c.1605-2A>G

SNV
Germline

Chr2:112001199

Pathogenic

Retinitis pigmentosa 38
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA253473

rs_730880273

3 SubmittersRCV000005732 RCV001071534 RCV001073657

NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter)

SNV
Germline

Chr2:112008466

Pathogenic

Retinitis pigmentosa 38
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA253474

rs_119489105

5 SubmittersRCV000005733 RCV001723542 RCV001257901 RCV001054980 RCV004814840

NM_006343.3(MERTK):c.2189+1G>T

SNV
Germline

Chr2:112019523

Pathogenic

Retinitis pigmentosa 38
Inborn genetic diseases
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA253476

rs_371956016

10 SubmittersRCV000005734 RCV000624145 RCV001073654 RCV001257903 RCV001208965 RCV003324483

NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)

SNV
Germline

Chr15:71811590

Pathogenic/Likely pathogenic

Enhanced S-cone syndrome
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
NR2E3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA117571

rs_104894492

8 SubmittersRCV000005866 RCV001048873 RCV003887854 RCV003323352 RCV004732530

NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)

SNV
Germline

Chr15:71811591

Pathogenic/Likely pathogenic

Enhanced S-cone syndrome
NR2E3-related disorder
Retinitis pigmentosa 37
Enhanced S-cone syndrome
Retinal dystrophy
Condition: not provided
Goldmann-Favre syndrome
Retinitis pigmentosa 37

Criteria Provided
Multiple Submitters
No Conflicts

CA117573

rs_104894493

22 SubmittersRCV000005867 RCV000261496 RCV000668029 RCV001075864 RCV001045323 RCV001449793 RCV004786237

NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)

SNV
Germline

Chr15:71813573

Pathogenic/Likely pathogenic

Enhanced S-cone syndrome
Goldmann-Favre syndrome
Condition: not provided
NR2E3-related disorder
Retinitis pigmentosa
Retinitis pigmentosa 37
Enhanced S-cone syndrome
Autosomal recessive retinitis pigmentosa
Enhanced S-cone syndrome
NR2E3-related disorder
Retinal dystrophy
Retinitis pigmentosa 37

Criteria Provided
Multiple Submitters
No Conflicts

CA117575

rs_28937873

25 SubmittersRCV000005869 RCV000005870 RCV000171240 RCV000393548 RCV000787633 RCV000668086 RCV001257807 RCV001095701 RCV001074891 RCV001374877

NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)

SNV
Germline

Chr15:71811530

Pathogenic/Likely pathogenic

Retinitis pigmentosa 37
Retinal dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253522

rs_121912631

13 SubmittersRCV000005871 RCV001075751 RCV000787628 RCV000286602

NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)

SNV
Germline

Chr17:6425781

Pathogenic

Leber congenital amaurosis 4
Condition: not provided
AIPL1-related disorder
Leber congenital amaurosis
Retinal dystrophy
Leber congenital amaurosis 4
Retinitis pigmentosa
AIPL1-related retinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA227899

rs_62637014

30 SubmittersRCV000005906 RCV000086235 RCV000365317 RCV000505017 RCV001074840 RCV002496274 RCV004786238

NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter)

SNV
Germline

Chr4:15994028

Pathogenic

Retinitis pigmentosa 41
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Single Submitter

CA253536

rs_137853005

4 SubmittersRCV000005959 RCV000504792 RCV000210292

NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)

SNV
Germline

Chr4:16013299

Pathogenic/Likely pathogenic

Stargardt disease 4
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Condition: not provided
Retinal dystrophy
Macular dystrophy
Stargardt disease
Retinitis pigmentosa
Retinitis pigmentosa 41
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Stargardt disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA117645

rs_137853006

20 SubmittersRCV000005960 RCV000005961 RCV000005962 RCV000479499 RCV000504765 RCV000787649 RCV000787648 RCV001723543 RCV002496275

NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)

SNV
Germline

Chr1:197434985

Pathogenic

Retinitis pigmentosa 12
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder
Retinal dystrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA228031

rs_62635656

11 SubmittersRCV000006084 RCV000086336 RCV001045972 RCV001250615 RCV003450614 RCV004528086 RCV001075294 RCV005007827

NM_201253.3(CRB1):c.2983G>T (p.Glu995Ter)

SNV
Germline

Chr1:197434846

Pathogenic

Retinitis pigmentosa 12
Condition: not provided

No Assertion Criteria Provided

CA228028

rs_62635655

4 SubmittersRCV000006085 RCV000086334

NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)

SNV
Germline

Chr1:197427615

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Macular dystrophy
CRB1-related maculopathy
Retinitis pigmentosa-deafness syndrome
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
CRB1-related disorder
Pigmented paravenous retinochoroidal atrophy
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA228006

rs_62635654

25 SubmittersRCV000006086 RCV000086317 RCV001074882 RCV001250604 RCV000787577 RCV001052374 RCV000656137 RCV001352991 RCV003447471 RCV002496279 RCV004540990 RCV003450615 RCV005417417

NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)

SNV
Germline

Chr1:197427559

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA228003

rs_28939720

25 SubmittersRCV000006087 RCV000086315 RCV000809110 RCV000787576 RCV001250601 RCV001074789 RCV001257864 RCV001196030 RCV001826422 RCV002496280

NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)

SNV
Germline

Chr1:197435162

Likely pathogenic

Leber congenital amaurosis 8
Condition: not provided
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA117707

rs_62635659

3 SubmittersRCV000006088 RCV000086340 RCV002490326

NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)

SNV
Germline

Chr1:197427726

Pathogenic

Retinitis pigmentosa 12
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA203531

rs_137853137

16 SubmittersRCV000006090 RCV000578757 RCV000691427 RCV000787826 RCV001250606 RCV000787578 RCV001275651 RCV002504753 RCV003450616 RCV004739293

NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg)

SNV
Germline

Chr1:197435404

Likely pathogenic

Retinitis pigmentosa 12
Condition: not provided
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA228041

rs_62636291

4 SubmittersRCV000006091 RCV000086346 RCV004814842 RCV005614367

NM_201253.3(CRB1):c.484G>A (p.Val162Met)

SNV
Germline

Chr1:197328835

Conflicting classifications of pathogenicity

Pigmented paravenous retinochoroidal atrophy
not specified
Retinitis pigmentosa
Leber congenital amaurosis 8
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA117710

rs_137853138

8 SubmittersRCV000006092 RCV000082821 RCV000353078 RCV000262530 RCV000723716 RCV001080229

NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)

SNV
Germline

Chr1:197435170

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Early-onset retinal dystrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA117711

rs_62636275

15 SubmittersRCV000006093 RCV000006094 RCV000086341 RCV000648818 RCV001002998 RCV001073404 RCV003450617 RCV000786009 RCV005007828

NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)

SNV
Germline

Chr8:54625911

Pathogenic

Retinitis pigmentosa 1
Condition: not provided
Retinal dystrophy
RP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253665

rs_104894082

14 SubmittersRCV000006329 RCV000255140 RCV001074787 RCV004754249

NM_006269.2(RP1):c.2035C>T (p.Gln679Ter)

SNV
Germline

Chr8:54625917

Pathogenic/Likely pathogenic

Retinitis pigmentosa 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253667

rs_104894083

4 SubmittersRCV000006332 RCV001851696

NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro)

SNV
Germline

Chr6:35503623

Pathogenic

Condition: not provided
Retinitis pigmentosa 14

Criteria Provided
Single Submitter

CA227700

rs_121909073

3 SubmittersRCV000086066 RCV000007782

NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys)

SNV
Germline

Chr6:35500100

Likely pathogenic

Retinitis pigmentosa 14
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA254155

rs_121909075

3 SubmittersRCV000007784 RCV002512878 RCV005406730

NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)

SNV
Germline

Chr6:35503816

Pathogenic

Retinitis pigmentosa 14
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA254156

rs_121909076

6 SubmittersRCV000007787 RCV000132649 RCV003887856 RCV002512879 RCV005430923

NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp)

SNV
Germline

Chr6:35500032

Conflicting classifications of pathogenicity

Retinitis pigmentosa 14
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA254157

rs_121909077

4 SubmittersRCV000007788 RCV001386009 RCV005237358

NM_003322.6(TULP1):c.718+2T>C

SNV
Germline

Chr6:35509632

Pathogenic

Retinitis pigmentosa 14
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA363781586

rs_1581742970

3 SubmittersRCV000007790 RCV003555962 RCV004814855

NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg)

SNV
Germline

Chr6:42185686

Conflicting classifications of pathogenicity

Retinitis pigmentosa 48
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA232839

rs_121909124

5 SubmittersRCV000007794 RCV000132648 RCV003887857

NM_000554.6(CRX):c.121C>T (p.Arg41Trp)

SNV
Germline

Chr19:47836263

Pathogenic/Likely pathogenic

Cone-rod dystrophy 2
Condition: not provided
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinal dystrophy
Cone-rod dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA118790

rs_104894672

14 SubmittersRCV000007843 RCV000085989 RCV001386169 RCV001073396 RCV003324484 RCV003324485

NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)

SNV
Germline

Chr10:13283695

Pathogenic/Likely pathogenic

REFSUM DISEASE, ADULT, 1
Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases
Phytanic acid storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA118904

rs_104894178

14 SubmittersRCV000008018 RCV000255609 RCV000505105 RCV002426496 RCV000665657

NM_006214.4(PHYH):c.135-2A>G

SNV
Germline

Chr10:13295608

Pathogenic

REFSUM DISEASE, ADULT, 1
Phytanic acid storage disease
Condition: not provided
Retinitis pigmentosa
PHYH-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA212871

rs_201578674

12 SubmittersRCV000008019 RCV000660487 RCV000599568 RCV001723551 RCV003407301 RCV004814858

NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)

SNV
Germline

Chr1:94051698

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Condition: not provided
Peripheral neuropathy
Abnormal macular morphology
Retinal dystrophy
Inborn genetic diseases
Retinitis pigmentosa
Stargardt disease
Cone-rod dystrophy
Age related macular degeneration 2
Age-related macular degeneration
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Retinitis pigmentosa 19
ABCA4-related disorder
Stargardt disease 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA119128

rs_76157638

36 SubmittersRCV000008328 RCV000008329 RCV000085494 RCV000415097 RCV000505063 RCV000623365 RCV000787487 RCV000787486 RCV000787768 RCV001198385 RCV001535670 RCV003224856 RCV004532312 RCV004558239 RCV005025029 RCV005357096

NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)

SNV
Germline

Chr1:94047046

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease
Retinal dystrophy
not specified
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA227031

rs_58331765

14 SubmittersRCV000008330 RCV000085506 RCV001002838 RCV001073603 RCV002247267 RCV001807722 RCV005025030 RCV004732538

NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)

SNV
Germline

Chr1:94005509

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinal dystrophy
Stargardt disease
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA119129

rs_61751408

17 SubmittersRCV000008332 RCV000008333 RCV000085785 RCV000763438 RCV001074885 RCV000826132 RCV002247268

NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)

SNV
Germline

Chr1:94001992

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
not specified
Stargardt Disease, Recessive
Macular degeneration
Cone dystrophy
ABCA4-related disorder
Retinitis pigmentosa
Retinal dystrophy
Stargardt disease
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA220688

rs_41292677

20 SubmittersRCV000008335 RCV000078671 RCV000285333 RCV000393715 RCV000259072 RCV000340261 RCV000393726 RCV000504806 RCV000778139 RCV000787769 RCV001075661 RCV002470704 RCV004783720

NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)

SNV
Germline

Chr1:94043420

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA227082

rs_61750061

5 SubmittersRCV000008337 RCV000085548 RCV003398468 RCV004795382

NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)

SNV
Germline

Chr1:94008251

Pathogenic/Likely pathogenic/Pathogenic, low penetrance

Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
Condition: not provided
ABCA4-related disorder
Macular dystrophy
Retinal dystrophy
Age related macular degeneration 2
Inborn genetic diseases
Stargardt disease
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
not specified
Retinitis pigmentosa
ABCA4-related retinopathy
See cases
Cone dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Syndromic retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA119132

rs_1800553

56 SubmittersRCV000008340 RCV000008341 RCV000008339 RCV000078670 RCV000273328 RCV000504952 RCV000505149 RCV000678513 RCV000624210 RCV000787514 RCV001254602 RCV001542557 RCV001731281 RCV002247269 RCV003324710 RCV004584319 RCV005417422 RCV005031424 RCV005417423

NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)

SNV
Germline

Chr1:94043413

Pathogenic/Likely pathogenic

Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Macular dystrophy
Stargardt disease
Retinitis pigmentosa
ABCA4-related disorder
not specified
Age related macular degeneration 2
Optic atrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA119135

rs_61751374

32 SubmittersRCV000008350 RCV000008348 RCV000085549 RCV000505109 RCV000763046 RCV000787495 RCV000787493 RCV000787494 RCV000778259 RCV001000014 RCV001196125 RCV004814860 RCV005357097

NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)

SNV
Germline

Chr1:94098928

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Cone-rod dystrophy 3
Stargardt disease
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinal dystrophy
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA203216

rs_61750200

21 SubmittersRCV000008355 RCV000085812 RCV000179293 RCV000787521 RCV000763050 RCV001074780 RCV004558240

NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)

SNV
Germline

Chr1:94063157

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA226918

rs_61748559

9 SubmittersRCV000008357 RCV000085416 RCV001074326 RCV005031425

NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)

SNV
Germline

Chr1:94063250

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa
Stargardt disease
Macular dystrophy
not specified
Age related macular degeneration 2
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA226911

rs_61751392

26 SubmittersRCV000085410 RCV000408513 RCV000505133 RCV000504750 RCV000787481 RCV000787482 RCV001002385 RCV001196126 RCV004528784

NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)

SNV
Germline

Chr1:94031110

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
Condition: not provided
Mandibulofacial dysostosis with mental deficiency
Stargardt disease
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA129033

rs_61750130

24 SubmittersRCV000008362 RCV000023139 RCV000078666 RCV000454310 RCV000787498 RCV000763044 RCV000778258 RCV001075868 RCV004786246

NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)

SNV
Germline

Chr1:94005500

Pathogenic/Likely pathogenic

Retinal dystrophy, early-onset severe
Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Stargardt disease
Retinitis pigmentosa 19
ABCA4-related retinopathy
Leber congenital amaurosis 14
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA119140

rs_61751383

22 SubmittersRCV000008365 RCV000085786 RCV000504794 RCV000505162 RCV000763437 RCV000787773 RCV001542555 RCV002512903 RCV003447472 RCV004528093

NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)

SNV
Germline

Chr1:94014665

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided
not specified
Optic atrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA340713

rs_121909207

10 SubmittersRCV000008373 RCV001073346 RCV000994036 RCV003317029 RCV004814862 RCV005025031

NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)

SNV
Germline

Chr1:94047009

Conflicting classifications of pathogenicity

MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
Severe early-childhood-onset retinal dystrophy
Condition: not provided
not specified
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
Stargardt Disease, Recessive
Stargardt disease
ABCA4-related disorder
Retinal dystrophy
Stargardt disease 3
ABCA4-related retinopathy

Criteria Provided
Conflicting Classifications

CA119146

rs_1801581

18 SubmittersRCV000008374 RCV000008375 RCV000085512 RCV000152706 RCV000349295 RCV000392936 RCV000294335 RCV000399411 RCV001002837 RCV001101950 RCV003887858 RCV004558243 RCV005364873

NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)

SNV
Germline

Chr2:96287968

Pathogenic

Retinitis pigmentosa 33
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA254265

rs_267607077

9 SubmittersRCV000008390 RCV000505052 RCV001091895 RCV001075824

NM_001297.5(CNGB1):c.2978G>T (p.Gly993Val)

SNV
Germline

Chr16:57897913

Pathogenic

Retinitis pigmentosa 45

No Assertion Criteria Provided

CA254576

rs_121918532

1 SubmittersRCV000009448

NM_001297.5(CNGB1):c.3462+1G>A

SNV
Germline

Chr16:57887854

Pathogenic

Retinitis pigmentosa 45

No Assertion Criteria Provided

CA396061610

rs_1567360969

1 SubmittersRCV000009449

NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)

SNV
Germline

Chr1:40092409

Pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases
PPT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA254577

rs_137852696

13 SubmittersRCV000009451 RCV000188709 RCV001723555 RCV002426497 RCV003407309

NM_000370.3(TTPA):c.303T>G (p.His101Gln)

SNV
Germline

Chr8:63072990

Pathogenic/Likely pathogenic

Ataxia and retinitis pigmentosa with isolated vitamin E deficiency
Familial isolated deficiency of vitamin E

Criteria Provided
Multiple Submitters
No Conflicts

CA120135

rs_121917849

4 SubmittersRCV000009708 RCV000055795

NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)

SNV
Germline

Chr10:84247707

Conflicting classifications of pathogenicity

Retinitis pigmentosa 44
Cone dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA241383

rs_104894187

7 SubmittersRCV000009759 RCV000626831 RCV000175649 RCV004814868

NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)

SNV
Germline

Chr17:8014701

Pathogenic/Likely pathogenic

Cone-rod dystrophy 6
Condition: not provided
Retinal dystrophy
Progressive cone dystrophy (without rod involvement)
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Cone dystrophy
Retinitis pigmentosa
Macular dystrophy
Visual impairment
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226086

rs_61750173

20 SubmittersRCV000009951 RCV000084863 RCV000504851 RCV000787614 RCV001228516 RCV001003043 RCV001723556 RCV001271114 RCV003324497

NC_012920.1(MT-TS2):m.12258C>A

SNV
Germline

ChrMT:12258

Likely pathogenic

Cerebellar ataxia, cataract, and diabetes mellitus
Retinitis pigmentosa-deafness syndrome
Mitochondrial disease

Reviewed By Expert Panel

CA120544

rs_118203888

2 SubmittersRCV000010170 RCV000010171 RCV003162227

NM_001034853.2(RPGR):c.703C>T (p.Pro235Ser)

SNV
Germline

ChrX:38310690

Pathogenic

Condition: not provided
Retinitis pigmentosa 3

No Assertion Criteria Provided

CA226435

rs_62638651

2 SubmittersRCV000085116 RCV000010576

NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)

SNV
Germline

ChrX:38304746

Pathogenic

Retinitis pigmentosa 3
Condition: not provided
Retinitis pigmentosa
Primary ciliary dyskinesia
RPGR-related retinopathy

Reviewed By Expert Panel

CA226447

rs_62642057

5 SubmittersRCV000010577 RCV000085125 RCV001003203 RCV002512961 RCV005415397

NM_001034853.2(RPGR):c.179G>T (p.Gly60Val)

SNV
Germline

ChrX:38322921

Likely pathogenic

Retinitis pigmentosa 3
Condition: not provided
Primary ciliary dyskinesia
Retinal dystrophy
RPGR-related disorder
RPGR-related retinopathy

Reviewed By Expert Panel

CA226376

rs_62638634

8 SubmittersRCV000010580 RCV000085072 RCV000822760 RCV001074755 RCV004755727 RCV005415398

NM_001034853.2(RPGR):c.296C>A (p.Thr99Asn)

SNV
Germline

ChrX:38321041

Pathogenic

Retinitis pigmentosa 3
Condition: not provided

No Assertion Criteria Provided

CA226407

rs_62638637

2 SubmittersRCV000010584 RCV000085096

NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter)

SNV
Germline

ChrX:38286349

Pathogenic

Retinitis pigmentosa 3
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA254931

rs_137852549

3 SubmittersRCV000010586 RCV002464059 RCV003534308

NM_001034853.2(RPGR):c.469+1G>T

SNV
Germline

ChrX:38318828

Pathogenic

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Condition: not provided

No Assertion Criteria Provided

CA412744987

rs_62638646

3 SubmittersRCV000010590 RCV001698940

NM_001034853.2(RPGR):c.517G>C (p.Gly173Arg)

SNV
Germline

ChrX:38317418

Pathogenic

Condition: not provided
RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS

Criteria Provided
Single Submitter

CA120805

rs_137852550

2 SubmittersRCV003128227 RCV003151715

NM_006915.3(RP2):c.76C>T (p.Gln26Ter)

SNV
Germline

ChrX:46837176

Pathogenic

Retinitis pigmentosa 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255299

rs_104894925

3 SubmittersRCV000011291 RCV000657655

NM_006915.3(RP2):c.353G>A (p.Arg118His)

SNV
Germline

ChrX:46853726

Pathogenic/Likely pathogenic

Retinitis pigmentosa 2
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255301

rs_28933687

7 SubmittersRCV000011292 RCV001075110 RCV001215347

NM_006915.3(RP2):c.453C>G (p.Tyr151Ter)

SNV
Germline

ChrX:46853826

Pathogenic

Retinitis pigmentosa 2

No Assertion Criteria Provided

CA255302

rs_104894926

1 SubmittersRCV000011293

NM_006915.3(RP2):c.353G>T (p.Arg118Leu)

SNV
Germline

ChrX:46853726

Pathogenic

Retinitis pigmentosa 2

No Assertion Criteria Provided

CA255304

rs_28933687

1 SubmittersRCV000011295

NM_006915.3(RP2):c.358C>T (p.Arg120Ter)

SNV
Germline

ChrX:46853731

Pathogenic

Retinitis pigmentosa 2
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA255305

rs_104894927

11 SubmittersRCV000011297 RCV000504994 RCV001047806 RCV000787701

NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)

SNV
Germline

Chr11:77142783

Pathogenic

Usher syndrome type 1B
Rare genetic deafness
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Retinitis pigmentosa
Hearing loss, autosomal recessive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277965

rs_35689081

8 SubmittersRCV000012634 RCV000154341 RCV000665804 RCV000787856 RCV001291462 RCV001226256

NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)

SNV
Germline

Chr11:66526181

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 1
Condition: not provided
Bardet-Biedl syndrome
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome
See cases
BBS1-related disorder
Inborn genetic diseases
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA223760

rs_113624356

54 SubmittersRCV000012926 RCV000082202 RCV000174408 RCV000210319 RCV000504693 RCV000787785 RCV002251900 RCV003390672 RCV002513000 RCV005621849

NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)

SNV
Germline

Chr11:66531692

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases
BBS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256226

rs_121917777

11 SubmittersRCV000012927 RCV000169202 RCV001008645 RCV001723562 RCV002513001 RCV003934827

NM_000539.3(RHO):c.68C>A (p.Pro23His)

SNV
Germline

Chr3:129528801

Pathogenic

Retinitis pigmentosa 4
Condition: not provided
Retinal dystrophy
Pigmentary retinal dystrophy
Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1
RHO-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256661

rs_104893768

8 SubmittersRCV000013887 RCV000490234 RCV001075876 RCV000763095 RCV004755731

NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)

SNV
Germline

Chr3:129533711

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided
Retinitis pigmentosa
Blurred vision
Peripheral visual field loss
Night blindness
Retinal dystrophy
RHO-related disorder
Microcephaly 17, primary, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA256662

rs_29001566

19 SubmittersRCV000013888 RCV000490027 RCV000504743 RCV000626702 RCV001075874 RCV004755732 RCV003989284

NM_000539.3(RHO):c.1039C>T (p.Pro347Ser)

SNV
Germline

Chr3:129533710

Pathogenic

Retinitis pigmentosa 4
Retinal dystrophy

Criteria Provided
Single Submitter

CA256663

rs_29001637

2 SubmittersRCV000013889 RCV003887861

NM_000539.3(RHO):c.173C>G (p.Thr58Arg)

SNV
Germline

Chr3:129528906

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Retinal dystrophy
Condition: not provided
RHO-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256664

rs_28933394

10 SubmittersRCV000013890 RCV001074373 RCV001384460 RCV004755733

NM_000539.3(RHO):c.50C>T (p.Thr17Met)

SNV
Germline

Chr3:129528783

Pathogenic

Retinitis pigmentosa 4
Retinitis pigmentosa
not specified
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256665

rs_104893769

11 SubmittersRCV000013892 RCV000787682 RCV001002098 RCV001075619 RCV001090660

NM_000539.3(RHO):c.260T>A (p.Val87Asp)

SNV
Germline

Chr3:129528993

Likely pathogenic

Retinitis pigmentosa 4
Pigmentary retinal dystrophy

Criteria Provided
Single Submitter

CA256667

rs_104893771

2 SubmittersRCV000013894 RCV001198366

NM_000539.3(RHO):c.266G>A (p.Gly89Asp)

SNV
Germline

Chr3:129528999

Pathogenic

Retinitis pigmentosa 4
Retinitis pigmentosa
Condition: not provided
Pigmentary retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256668

rs_104893772

7 SubmittersRCV000013895 RCV001003167 RCV001213959 RCV001813740 RCV004814892

NM_000539.3(RHO):c.316G>T (p.Gly106Trp)

SNV
Germline

Chr3:129529049

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256669

rs_104893773

3 SubmittersRCV000013896 RCV001073422 RCV001857345

NM_000539.3(RHO):c.568G>A (p.Asp190Asn)

SNV
Germline

Chr3:129532288

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256670

rs_104893779

8 SubmittersRCV000013897 RCV001056948 RCV003887862

NM_000539.3(RHO):c.404G>T (p.Arg135Leu)

SNV
Germline

Chr3:129530918

Pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256671

rs_104893774

4 SubmittersRCV000013898 RCV000256085

NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)

SNV
Germline

Chr3:129532253

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256672

rs_104893776

8 SubmittersRCV000013899 RCV000787683 RCV001229671 RCV004814893

NM_000539.3(RHO):c.569A>G (p.Asp190Gly)

SNV
Germline

Chr3:129532289

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256673

rs_104893777

5 SubmittersRCV000013900 RCV001386998 RCV003887863

NM_000539.3(RHO):c.632A>C (p.His211Pro)

SNV
Germline

Chr3:129532352

Likely pathogenic

Retinitis pigmentosa 4
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256674

rs_28933993

3 SubmittersRCV000013901 RCV001074697

NM_000539.3(RHO):c.403C>T (p.Arg135Trp)

SNV
Germline

Chr3:129530917

Pathogenic

Retinitis punctata albescens
Retinitis pigmentosa 4
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
RHO-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA122819

rs_104893775

15 SubmittersRCV000013903 RCV000013902 RCV000132597 RCV000413771 RCV001074272 RCV004755734

NM_000539.3(RHO):c.1030C>T (p.Gln344Ter)

SNV
Germline

Chr3:129533701

Pathogenic

Retinitis pigmentosa 4
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256675

rs_104893778

7 SubmittersRCV000013904 RCV000760321 RCV003887864

NM_000539.3(RHO):c.886A>G (p.Lys296Glu)

SNV
Germline

Chr3:129532722

Pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256677

rs_29001653

4 SubmittersRCV000013905 RCV002513028

NM_000539.3(RHO):c.1040C>G (p.Pro347Arg)

SNV
Germline

Chr3:129533711

Pathogenic

Retinitis pigmentosa 4
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Single Submitter

CA256678

rs_29001566

3 SubmittersRCV000013907 RCV001382064 RCV001003173

NM_000539.3(RHO):c.544G>A (p.Gly182Ser)

SNV
Germline

Chr3:129532264

Pathogenic

Retinitis pigmentosa 4
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256679

rs_104893780

3 SubmittersRCV000013908 RCV001074816 RCV001857346

NM_000539.3(RHO):c.800C>T (p.Pro267Leu)

SNV
Germline

Chr3:129532636

Pathogenic

Retinitis pigmentosa 4
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256680

rs_104893781

5 SubmittersRCV000013909 RCV001003172 RCV001582479

NM_000539.3(RHO):c.329G>A (p.Cys110Tyr)

SNV
Germline

Chr3:129529062

Pathogenic

Retinitis pigmentosa 4
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256681

rs_104893787

4 SubmittersRCV000013910 RCV001234924 RCV001073635

NM_000539.3(RHO):c.745G>T (p.Glu249Ter)

SNV
Germline

Chr3:129532581

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4, autosomal recessive
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA122820

rs_104893783

4 SubmittersRCV000013911 RCV001007976 RCV001074645

NM_000539.3(RHO):c.158C>G (p.Pro53Arg)

SNV
Germline

Chr3:129528891

Pathogenic

Retinitis pigmentosa 4
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256682

rs_28933395

5 SubmittersRCV000013912 RCV000504903 RCV002513029

NM_000539.3(RHO):c.316G>A (p.Gly106Arg)

SNV
Germline

Chr3:129529049

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256683

rs_104893773

10 SubmittersRCV000013913 RCV000787679 RCV001074389 RCV001207877

NM_000539.3(RHO):c.568G>T (p.Asp190Tyr)

SNV
Germline

Chr3:129532288

Pathogenic

Retinitis pigmentosa 4
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256684

rs_104893779

4 SubmittersRCV000013915 RCV000504953 RCV001386997

NM_000539.3(RHO):c.44A>G (p.Asn15Ser)

SNV
Germline

Chr3:129528777

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256685

rs_104893786

9 SubmittersRCV000013917 RCV000132598 RCV001203907 RCV004814894

NM_000539.3(RHO):c.620T>G (p.Met207Arg)

SNV
Germline

Chr3:129532340

Pathogenic

Retinitis pigmentosa 4
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256686

rs_104893782

3 SubmittersRCV000013918 RCV001075474 RCV004546412

NM_000539.3(RHO):c.448G>A (p.Glu150Lys)

SNV
Germline

Chr3:129530962

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4, autosomal recessive
Condition: not provided
Retinitis pigmentosa 4
Autosomal recessive retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA122824

rs_104893791

7 SubmittersRCV000013921 RCV001045970 RCV001265186 RCV003105773 RCV004794339

NM_000539.3(RHO):c.151G>C (p.Gly51Arg)

SNV
Germline

Chr3:129528884

Pathogenic

Retinitis pigmentosa 4
Condition: not provided
RHO-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256687

rs_104893792

3 SubmittersRCV000013922 RCV001237838 RCV003390680

NM_000539.3(RHO):c.341G>A (p.Gly114Asp)

SNV
Germline

Chr3:129529074

Pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256688

rs_104893788

4 SubmittersRCV000013923 RCV001851839

NM_000539.3(RHO):c.491C>A (p.Ala164Glu)

SNV
Germline

Chr3:129531005

Pathogenic

Retinitis pigmentosa 4
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256689

rs_104893793

3 SubmittersRCV000013924 RCV001381859 RCV004814896

NM_000539.3(RHO):c.511C>T (p.Pro171Ser)

SNV
Germline

Chr3:129531025

Pathogenic

Retinitis pigmentosa 4
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256690

rs_104893794

5 SubmittersRCV000013925 RCV001003169 RCV001075386 RCV001381861

NM_000539.3(RHO):c.1033G>C (p.Val345Leu)

SNV
Germline

Chr3:129533704

Pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Single Submitter

CA256693

rs_104893795

2 SubmittersRCV000013927 RCV001213632

NM_000539.3(RHO):c.1040C>A (p.Pro347Gln)

SNV
Germline

Chr3:129533711

Pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Single Submitter

CA256694

rs_29001566

2 SubmittersRCV000013928 RCV001851840

NM_000539.3(RHO):c.67C>G (p.Pro23Ala)

SNV
Germline

Chr3:129528800

Pathogenic

Retinitis pigmentosa 4

No Assertion Criteria Provided

CA256695

rs_104893797

1 SubmittersRCV000013930

NM_000539.3(RHO):c.1033G>A (p.Val345Met)

SNV
Germline

Chr3:129533704

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256697

rs_104893795

4 SubmittersRCV000013931 RCV001045798 RCV004814897

NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln)

SNV
Germline

Chr15:89215133

Pathogenic/Likely pathogenic

Pigmentary retinal dystrophy
Retinitis punctata albescens
Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
Bothnia retinal dystrophy
Bothnia retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA122838

rs_137853290

7 SubmittersRCV000013973 RCV000013974 RCV001257814 RCV001857347 RCV001731283 RCV005003355 RCV005229784

NM_000326.5(RLBP1):c.141G>A (p.Lys47=)

SNV
Germline

Chr15:89218565

Pathogenic

Retinitis punctata albescens
Newfoundland cone-rod dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA7722387

rs_766278489

3 SubmittersRCV000013977 RCV000013976 RCV002513030 RCV005406741

NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)

SNV
Germline

Chr15:89210794

Pathogenic/Likely pathogenic

Bothnia retinal dystrophy
Retinitis punctata albescens
RLBP1-related disorder
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA122839

rs_28933990

7 SubmittersRCV000013978 RCV000013979 RCV000345884 RCV001387783 RCV001003174 RCV003887865

NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)

SNV
Germline

Chr15:89211750

Pathogenic/Likely pathogenic

Retinitis punctata albescens
Retinitis pigmentosa
RLBP1-related disorder
Condition: not provided
Retinal dystrophy
Bothnia retinal dystrophy
Retinitis punctata albescens
Bothnia retinal dystrophy
Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA122840

rs_137853291

9 SubmittersRCV000013980 RCV000504975 RCV000394737 RCV001387784 RCV001073560 RCV005364877 RCV005003356

NM_002602.4(PDE6G):c.187+1G>T

SNV
Germline

Chr17:81651644

Pathogenic

Retinitis pigmentosa 57
Retinitis pigmentosa

No Assertion Criteria Provided

CA401474205

rs_1598717056

2 SubmittersRCV000013981 RCV001003119

NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter)

SNV
Germline

Chr4:654119

Pathogenic

Retinitis pigmentosa 40
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256715

rs_121918579

12 SubmittersRCV000013982 RCV000504946 RCV000627220 RCV001074585

NM_000283.4(PDE6B):c.1591C>T (p.Arg531Ter)

SNV
Germline

Chr4:660590

Pathogenic

Retinitis pigmentosa 40
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256717

rs_121918580

3 SubmittersRCV000013983 RCV001546523

NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr)

SNV
Germline

Chr4:662188

Pathogenic

Retinitis pigmentosa 40
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256720

rs_121918581

5 SubmittersRCV000013985 RCV000132576 RCV001851841 RCV003887867

NM_000283.4(PDE6B):c.2419T>A (p.Trp807Arg)

SNV
Germline

Chr4:667922

Pathogenic

Retinitis pigmentosa 40
Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA256723

rs_121918583

2 SubmittersRCV000013988 RCV001257886

NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter)

SNV
Germline

Chr5:149886354

Pathogenic

Retinitis pigmentosa 43
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256725

rs_121918576

6 SubmittersRCV000013989 RCV000987614 RCV001851842

NM_000440.3(PDE6A):c.1032C>A (p.Ser344Arg)

SNV
Germline

Chr5:149907345

Pathogenic

Retinitis pigmentosa 43

No Assertion Criteria Provided

CA256727

rs_121918577

1 SubmittersRCV000013990

NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter)

SNV
Germline

Chr5:149895228

Pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

CA256728

rs_121918578

2 SubmittersRCV000013991

NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)

SNV
Germline

Chr1:68439586

Pathogenic

Leber congenital amaurosis 2
Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Retinal dystrophy

Reviewed By Expert Panel

CA226577

rs_61752895

9 SubmittersRCV000013993 RCV000085219 RCV001236263 RCV001831567 RCV001376448 RCV003460467 RCV004794340

NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)

SNV
Germline

Chr1:68444858

Pathogenic

Retinitis pigmentosa 20
Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Retinal dystrophy
Leber congenital amaurosis 2
RPE65-related disorder
Leber congenital amaurosis
Retinitis pigmentosa 20
Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis
Abnormality of the eye
RPE65-related recessive retinopathy
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA226531

rs_61752871

21 SubmittersRCV000013994 RCV000085184 RCV000527143 RCV000787698 RCV001073556 RCV001250682 RCV001095690 RCV001257818 RCV001275337 RCV001813981 RCV004595852 RCV005031436

NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)

SNV
Germline

Chr1:68431160

Likely pathogenic

Retinitis pigmentosa 20
Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
not specified
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226509

rs_62637004

7 SubmittersRCV000013995 RCV000085169 RCV001304649 RCV003114190 RCV005025051 RCV004801914

NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)

SNV
Germline

Chr1:68438228

Pathogenic

Retinitis pigmentosa 20
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA256730

rs_121917744

9 SubmittersRCV000013996 RCV000815732 RCV001250693 RCV003460468 RCV001826460 RCV005025052

NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)

SNV
Germline

Chr1:68438293

Pathogenic

Retinitis pigmentosa 20
Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA226472

rs_61752909

15 SubmittersRCV000013997 RCV000085141 RCV000986328 RCV003764564 RCV001047062 RCV001831568 RCV004814898 RCV002496352

NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)

SNV
Germline

Chr1:68429835

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinal dystrophy
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226519

rs_121917745

11 SubmittersRCV000013999 RCV000014000 RCV000085176 RCV000132583 RCV001826461 RCV000816506 RCV003887868 RCV003764565

NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)

SNV
Germline

Chr6:42704546

Pathogenic

Retinitis pigmentosa 7
Condition: not provided
PRPH2-related disorder
Retinal dystrophy
Retinitis pigmentosa
Patterned dystrophy of the retinal pigment epithelium

Criteria Provided
Multiple Submitters
No Conflicts

CA226285

rs_61755806

10 SubmittersRCV000014050 RCV000085007 RCV001063368 RCV001075781 RCV001003142 RCV001250376

NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)

SNV
Germline

Chr6:42721781

Pathogenic/Likely pathogenic

Retinitis pigmentosa 7, digenic
Condition: not provided
Leber congenital amaurosis 18
Patterned macular dystrophy 1
Retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium
PRPH2-related disorder
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA122928

rs_121918563

8 SubmittersRCV000014051 RCV000084987 RCV000149464 RCV000149466 RCV001075516 RCV001250378 RCV001378481 RCV001530305

NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)

SNV
Germline

Chr6:42721820

Pathogenic/Likely pathogenic

Choroidal dystrophy, central areolar 2
Condition: not provided
Macular dystrophy
Retinitis pigmentosa
Retinal dystrophy
PRPH2-related disorder
Patterned dystrophy of the retinal pigment epithelium
Stargardt disease
Vitelliform macular dystrophy 3
Retinitis pigmentosa 7

Criteria Provided
Multiple Submitters
No Conflicts

CA122930

rs_61755793

14 SubmittersRCV000014053 RCV000084982 RCV000787664 RCV000787663 RCV001074392 RCV001054658 RCV001250353 RCV001250367 RCV001799605 RCV005234784

NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)

SNV
Germline

Chr6:42721821

Pathogenic/Likely pathogenic

Choroidal dystrophy, central areolar 2
Condition: not provided
PRPH2-related disorder
maculopathy
Retinitis pigmentosa
Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 2
Cone-rod dystrophy
Stargardt disease
Patterned macular dystrophy 1
Retinitis pigmentosa 7
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA122936

rs_61755792

17 SubmittersRCV000014056 RCV000084981 RCV001049315 RCV001003147 RCV001250348 RCV001250349 RCV001250351 RCV001250350 RCV001250352 RCV001352972 RCV002466402 RCV003887869

NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys)

SNV
Germline

Chr6:42704461

Pathogenic

Retinitis pigmentosa 7
Condition: not provided
Retinal dystrophy

Criteria Provided
Single Submitter

CA226304

rs_61755816

4 SubmittersRCV000014058 RCV000085017 RCV003887870

NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)

SNV
Germline

Chr6:42722199

Pathogenic/Likely pathogenic

Retinitis pigmentosa 7
Condition: not provided
Patterned dystrophy of the retinal pigment epithelium
Patterned macular dystrophy 1
PRPH2-related disorder
Retinal dystrophy
Stargardt disease
Choroidal dystrophy, central areolar 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226209

rs_61755771

14 SubmittersRCV000014067 RCV000084955 RCV001250291 RCV000987699 RCV001039794 RCV001075450 RCV001250276 RCV003987319

NM_000322.5(PRPH2):c.518A>T (p.Asp173Val)

SNV
Germline

Chr6:42721817

Pathogenic

Retinitis pigmentosa 7
Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA226248

rs_61755794

4 SubmittersRCV000014069 RCV000084983 RCV005089248

NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)

SNV
Germline

Chr6:42721911

Pathogenic/Likely pathogenic

Choroidal dystrophy, central areolar 2
Condition: not provided
Cone dystrophy
Progressive cone dystrophy (without rod involvement)
Retinal dystrophy
PRPH2-related disorder
maculopathy
Patterned dystrophy of the retinal pigment epithelium
Stargardt disease
Retinitis pigmentosa
Patterned macular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA122946

rs_61755783

19 SubmittersRCV000014071 RCV000084971 RCV000678606 RCV000787661 RCV001075677 RCV001061048 RCV001003149 RCV001250319 RCV001250318 RCV001250320 RCV001353001

NM_001354768.3(NRL):c.148T>A (p.Ser50Thr)

SNV
Germline

Chr14:24082701

Pathogenic

Retinitis pigmentosa 27

No Assertion Criteria Provided

CA257070

rs_104894459

1 SubmittersRCV000015086

NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn)

SNV
Germline

Chr7:128398557

Pathogenic/Likely pathogenic

Retinitis pigmentosa 10
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA257369

rs_121912550

6 SubmittersRCV000015959 RCV000255540 RCV003887871

NM_000883.4(IMPDH1):c.926G>C (p.Arg309Pro)

SNV
Germline

Chr7:128398562

Likely pathogenic

Retinitis pigmentosa 10
Retinal dystrophy

Criteria Provided
Single Submitter

CA257385

rs_121912552

2 SubmittersRCV000015961 RCV003887872

NM_001379270.1(CNGA1):c.226G>T (p.Glu76Ter)

SNV
Germline

Chr4:47949894

Pathogenic

Retinitis pigmentosa 49

No Assertion Criteria Provided

CA126986

rs_121909599

1 SubmittersRCV000018438

NM_001379270.1(CNGA1):c.415A>T (p.Lys139Ter)

SNV
Germline

Chr4:47943203

Pathogenic

Retinitis pigmentosa 49

No Assertion Criteria Provided

CA126988

rs_121909600

1 SubmittersRCV000018439

NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)

SNV
Germline

Chr4:47937535

Pathogenic/Likely pathogenic

Retinitis pigmentosa 49
Retinitis pigmentosa
Macular dystrophy
Cone-rod dystrophy
Retinal dystrophy
Condition: not provided
See cases
CNGA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA126990

rs_62625014

20 SubmittersRCV000018440 RCV000778730 RCV000787817 RCV000787818 RCV001073687 RCV001059719 RCV001197999 RCV004757110

NM_017541.4(CRYGS):c.53G>T (p.Gly18Val)

SNV
Germline

Chr3:186539566

Pathogenic

Cataract 20 multiple types
Retinitis pigmentosa

Criteria Provided
Single Submitter

CA126996

rs_104893736

2 SubmittersRCV000018444 RCV003315504

NM_000717.5(CA4):c.40C>T (p.Arg14Trp)

SNV
Germline

Chr17:60150074

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 17
CA4-related disorder

Criteria Provided
Conflicting Classifications

CA258044

rs_104894559

4 SubmittersRCV001247433 RCV000336591 RCV000019173 RCV003914854

NM_000717.5(CA4):c.206G>A (p.Arg69His)

SNV
Germline

Chr17:60156653

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA258046

rs_121434552

3 SubmittersRCV003887874 RCV000019175 RCV002513116

NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp)

SNV
Germline

Chr1:212858813

Pathogenic

Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115240

rs_267606820

3 SubmittersRCV000001933 RCV001046647

NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr)

SNV
Germline

Chr1:212859173

Pathogenic

Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA115241

rs_267606819

2 SubmittersRCV000001934 RCV001851962

NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)

SNV
Germline

Chr1:212859026

Pathogenic/Likely pathogenic

Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA115242

rs_267606821

7 SubmittersRCV000001935 RCV002513132 RCV002513131

NM_001242957.3(MAK):c.718C>T (p.Gln240Ter)

SNV
Germline

Chr6:10802005

Pathogenic

Retinitis pigmentosa 62

No Assertion Criteria Provided

CA134118690

rs_779514800

1 SubmittersRCV000022648

NM_001242957.3(MAK):c.388A>C (p.Asn130His)

SNV
Germline

Chr6:10808913

Likely pathogenic

Retinitis pigmentosa 62
Retinal dystrophy

Criteria Provided
Single Submitter

CA259647

rs_387906646

2 SubmittersRCV000022649 RCV004814914

NM_001242957.3(MAK):c.37G>A (p.Gly13Ser)

SNV
Germline

Chr6:10830612

Conflicting classifications of pathogenicity

Retinitis pigmentosa 62
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA259649

rs_387906647

4 SubmittersRCV000022650 RCV001851998 RCV004814915

NM_001242957.3(MAK):c.497G>A (p.Arg166His)

SNV
Germline

Chr6:10803886

Pathogenic

Retinitis pigmentosa 62
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA259651

rs_387906648

4 SubmittersRCV000022651 RCV001003075 RCV001388421

NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)

SNV
Germline

Chr1:68438213

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
RPE65-related disorder
Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226484

rs_62653011

16 SubmittersRCV000022749 RCV000022750 RCV000085150 RCV000787920 RCV001054423 RCV001275328 RCV000348257 RCV004814916 RCV005025077 RCV003764626

NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)

SNV
Germline

Chr1:68439033

Pathogenic

Leber congenital amaurosis 2
Condition: not provided
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA226589

rs_61752904

7 SubmittersRCV000022753 RCV000085231 RCV003764627 RCV002490403 RCV002513174

NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)

SNV
Germline

Chr1:68431328

Likely pathogenic

Leber congenital amaurosis 2
Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
RPE65-related disorder
Leber congenital amaurosis

Reviewed By Expert Panel

CA226500

rs_62636300

8 SubmittersRCV000022754 RCV000085161 RCV001054426 RCV003764628 RCV004732553 RCV003317042

NM_000440.3(PDE6A):c.2053G>A (p.Val685Met)

SNV
Germline

Chr5:149883511

Pathogenic

Retinitis pigmentosa 43
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA259675

rs_121909835

7 SubmittersRCV000022755 RCV000797198 RCV001074616

NM_000539.3(RHO):c.482G>A (p.Trp161Ter)

SNV
Germline

Chr3:129530996

Pathogenic

Retinitis pigmentosa 4, autosomal recessive
Condition: not provided
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA358695

rs_869320618

3 SubmittersRCV000022756 RCV001381858 RCV005234794

NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)

SNV
Germline

Chr1:94041367

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227113

rs_61751399

7 SubmittersRCV000023141 RCV000085574 RCV000504768 RCV001073572

NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)

SNV
Germline

Chr6:35505751

Pathogenic/Likely pathogenic

Leber congenital amaurosis 15
Condition: not provided
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA259775

rs_387906837

6 SubmittersRCV000023189 RCV001857359 RCV004586021 RCV004814919 RCV005042082

NM_174878.3(CLRN1):c.92C>T (p.Pro31Leu)

SNV
Germline

Chr3:150972617

Pathogenic

Retinitis pigmentosa 61
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129342

rs_374390376

3 SubmittersRCV000023538 RCV001073290 RCV001384938

NM_006445.4(PRPF8):c.6353C>T (p.Ser2118Phe)

SNV
Germline

Chr17:1653558

Pathogenic

Retinitis pigmentosa 13

No Assertion Criteria Provided

CA259878

rs_387906971

1 SubmittersRCV000023643

NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser)

SNV
Germline

Chr17:1650880

Pathogenic

Retinitis pigmentosa 13
Condition: not provided

Criteria Provided
Single Submitter

CA397562014

rs_1911001854

2 SubmittersRCV000023644 RCV002513199

NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)

SNV
Germline

Chr1:26438228

Pathogenic

Retinitis pigmentosa 59
Developmental delay and seizures with or without movement abnormalities
Retinitis pigmentosa 59
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA259894

rs_147394623

18 SubmittersRCV000023687 RCV000762902 RCV000778978 RCV001354833

NM_206933.4(USH2A):c.7595-2144A>G

SNV
Germline

Chr1:215891198

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2
Retinal dystrophy
Retinitis pigmentosa 39
USH2A-related disorder
Rare genetic deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA259896

rs_786200928

25 SubmittersRCV000023700 RCV000505092 RCV000664608 RCV000787740 RCV000814767 RCV001003267 RCV001074209 RCV001376510 RCV001824575 RCV004017262

NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg)

SNV
Germline

Chr1:212889209

Pathogenic

Posterior column ataxia-retinitis pigmentosa syndrome

No Assertion Criteria Provided

CA344793881

rs_1558121050

1 SubmittersRCV000023754

NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)

SNV
Germline

Chr14:88416725

Pathogenic/Likely pathogenic

Leber congenital amaurosis 3
SPATA7-related disorder
Retinal dystrophy
Retinitis pigmentosa 94, variable age at onset
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA259907

rs_140287375

10 SubmittersRCV000023791 RCV000778417 RCV001075501 RCV002260600 RCV002251427

NM_152419.3(HGSNAT):c.234+1G>A

SNV
Germline

Chr8:43147064

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Condition: not provided
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Sanfilippo syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA129492

rs_483352908

13 SubmittersRCV000023817 RCV000153361 RCV000652843 RCV001074236 RCV001192638

NM_177965.4(CFAP418):c.497T>A (p.Leu166Ter)

SNV
Germline

Chr8:95247744

Pathogenic

Retinitis pigmentosa 64

No Assertion Criteria Provided

CA371838342

rs_1064792852

1 SubmittersRCV000024191

NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp)

SNV
Germline

Chr8:95247712

Pathogenic/Likely pathogenic

Cone-rod dystrophy 16
Bardet-biedl syndrome 21
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA260013

rs_387907136

5 SubmittersRCV000024193 RCV000477682 RCV001002908 RCV001257837 RCV002228055 RCV004794345

NM_177965.4(CFAP418):c.545A>G (p.Gln182Arg)

SNV
Germline

Chr8:95247696

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 64

No Assertion Criteria Provided

CA129739

rs_387907137

2 SubmittersRCV001002907 RCV000024194

NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys)

SNV
Germline

Chr16:1564074

Pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA129885

rs_387907192

6 SubmittersRCV000024359 RCV000515561 RCV001781315 RCV005016296

NM_014714.4(IFT140):c.2399+1G>T

SNV
Germline

Chr16:1557934

Pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Condition: not provided
IFT140-related disorder
Polycystic kidney disease
Renal cyst
Polycystic kidney disease 9, susceptibility to
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA129886

rs_376586707

13 SubmittersRCV000024360 RCV000515584 RCV001075306 RCV001536095 RCV001818178 RCV003924859 RCV004760343 RCV004786282 RCV005255556 RCV003993751

NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)

SNV
Germline

Chr16:1592176

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Condition: not provided
Jeune thoracic dystrophy
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Nephronophthisis
IFT140-related disorder
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

CA129889

rs_201188361

14 SubmittersRCV000024363 RCV000255441 RCV000515934 RCV000626465 RCV001249674 RCV001328311 RCV004752723 RCV005259984

NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)

SNV
Germline

Chr16:56502382

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA260182

rs_193922710

8 SubmittersRCV000029406 RCV000672755 RCV005016297 RCV004798748 RCV004719664

NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter)

SNV
Germline

Chr17:76540205

Pathogenic

Retinitis pigmentosa 36
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA260582

rs_387907268

9 SubmittersRCV000030701 RCV001003124 RCV001075439 RCV001268748

NM_006343.3(MERTK):c.61+1G>A

SNV
Germline

Chr2:111898797

Pathogenic

Retinitis pigmentosa 38

No Assertion Criteria Provided

CA348232703

rs_1573554264

1 SubmittersRCV000030843

NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter)

SNV
Germline

Chr2:112021555

Pathogenic

Retinitis pigmentosa 38
Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA260612

rs_387907314

5 SubmittersRCV000030845 RCV001257797 RCV001852614 RCV004814930

NM_207352.4(CYP4V2):c.958C>T (p.Arg320Ter)

SNV
Germline

Chr4:186201313

Pathogenic

Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa

No Assertion Criteria Provided

CA343741

rs_199476194

2 SubmittersRCV000032549 RCV002267722

NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)

SNV
Germline

Chr1:197434706

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Cone dystrophy
Hereditary macular dystrophy
Retinitis pigmentosa
CRB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA228022

rs_62645748

31 SubmittersRCV000032814 RCV000032815 RCV000086331 RCV000505155 RCV000762874 RCV001097540 RCV000554663 RCV001275657 RCV003324500 RCV005357245 RCV000787579 RCV003313928

NM_014014.5(SNRNP200):c.3269G>T (p.Arg1090Leu)

SNV
Germline

Chr2:96287959

Pathogenic

Retinitis pigmentosa 33

No Assertion Criteria Provided

CA261210

rs_397514574

1 SubmittersRCV000032962

NM_014014.5(SNRNP200):c.2653C>G (p.Gln885Glu)

SNV
Germline

Chr2:96290415

Pathogenic

Retinitis pigmentosa 33

No Assertion Criteria Provided

CA261211

rs_397514575

1 SubmittersRCV000032963

NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)

SNV
Germline

ChrX:13736487

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Joubert syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA343958

rs_312262810

2 SubmittersRCV001383219 RCV002496509

NM_000541.5(SAG):c.577C>T (p.Arg193Ter)

SNV
Germline

Chr2:233328542

Pathogenic

Oguchi disease
Condition: not provided
Retinal dystrophy
Oguchi disease-2
Retinitis pigmentosa 47
Retinitis pigmentosa 47
Oguchi disease-1
Oguchi disease-1

Criteria Provided
Multiple Submitters
No Conflicts

CA130895

rs_201153410

12 SubmittersRCV000034821 RCV001040357 RCV001073952 RCV001270292 RCV003224859 RCV002477062 RCV002272037

NM_000541.5(SAG):c.916G>T (p.Glu306Ter)

SNV
Germline

Chr2:233335071

Pathogenic

Oguchi disease
Retinitis pigmentosa 47

Criteria Provided
Single Submitter

CA130899

rs_397514682

2 SubmittersRCV000034824 RCV001807749

NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)

SNV
Germline

Chr9:114504769

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa-deafness syndrome
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D

Criteria Provided
Conflicting Classifications

CA136922

rs_45527543

8 SubmittersRCV000038895 RCV000725335 RCV000988244 RCV001168207 RCV001168208

NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)

SNV
Germline

Chr10:71803371

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa-deafness syndrome
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Rare genetic deafness
Retinal dystrophy
Neurodevelopmental abnormality
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA261801

rs_202052174

18 SubmittersRCV000039276 RCV000988383 RCV000725220 RCV001559300 RCV003483451 RCV004017329 RCV004814963 RCV001264702 RCV001374881 RCV003473285

NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)

SNV
Germline

Chr5:90647666

Conflicting classifications of pathogenicity

not specified
Febrile seizures, familial, 4
Condition: not provided
Usher syndrome type 2C
Retinitis pigmentosa
ADGRV1-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA138098

rs_190922596

11 SubmittersRCV000039568 RCV000146077 RCV000954914 RCV001151213 RCV003389449 RCV004549464 RCV005625232

NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg)

SNV
Germline

Chr3:150972582

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 3A
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA142675

rs_111033434

4 SubmittersRCV000041430 RCV001058723 RCV005031479

NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)

SNV
Germline

Chr3:150941647

Pathogenic/Likely pathogenic

Usher syndrome type 3
Condition: not provided
Usher syndrome type 3A
Usher syndrome
Rare genetic deafness
Retinitis pigmentosa 61
Usher syndrome type 3A
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA142688

rs_374963432

8 SubmittersRCV000041436 RCV001071445 RCV002243688 RCV001582535 RCV000844624 RCV003466890 RCV005031481

NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)

SNV
Germline

Chr1:216325448

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143213

rs_397517963

7 SubmittersRCV000041663 RCV001074760 RCV000670778 RCV001362594 RCV003466891

NM_206933.4(USH2A):c.1036A>C (p.Asn346His)

SNV
Germline

Chr1:216325412

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Rare genetic deafness
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa

Reviewed By Expert Panel

CA262054

rs_369522997

13 SubmittersRCV000041668 RCV000411779 RCV000727128 RCV000824797 RCV000710349 RCV001074772 RCV001723627

NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)

SNV
Germline

Chr1:215782873

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA262056

rs_111033379

8 SubmittersRCV000041669 RCV000670189 RCV000802347 RCV001353056 RCV003450731 RCV004814973

NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)

SNV
Germline

Chr1:215782806

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA143221

rs_397517966

4 SubmittersRCV000041670 RCV001350663 RCV000669162 RCV004686573

NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)

SNV
Germline

Chr1:215782762

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
See cases
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA262058

rs_111033264

19 SubmittersRCV000041673 RCV000824783 RCV001056065 RCV001376413 RCV000504880 RCV000665210 RCV001074824 RCV002287354 RCV004732588

NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)

SNV
Germline

Chr1:215782738

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143227

rs_111033439

5 SubmittersRCV000041674 RCV000667791 RCV001852852 RCV005430950 RCV003466892

NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)

SNV
Germline

Chr1:215782070

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Rare genetic deafness
Nonsyndromic genetic hearing loss
Condition: not provided
Retinal dystrophy
Usher syndrome
Retinitis pigmentosa 39
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA262060

rs_202175091

15 SubmittersRCV000041676 RCV000666226 RCV000824782 RCV001544538 RCV000804464 RCV001073629 RCV003323372 RCV001293034 RCV003324502

NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)

SNV
Germline

Chr1:215782058

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262062

rs_111033265

5 SubmittersRCV000041677 RCV001073926 RCV001852854 RCV003450737 RCV002496659 RCV003450738

NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)

SNV
Germline

Chr1:215780023

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262064

rs_111033418

8 SubmittersRCV000041678 RCV000522247 RCV000664676 RCV003450739 RCV003450740

NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)

SNV
Germline

Chr1:215779860

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143239

rs_397517969

3 SubmittersRCV000041683 RCV000666661 RCV002514158

NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)

SNV
Germline

Chr1:216325309

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143255

rs_111033395

4 SubmittersRCV000041694 RCV001852855 RCV002307376 RCV005252713

NM_206933.4(USH2A):c.1143+1G>A

SNV
Germline

Chr1:216325304

Pathogenic

Rare genetic deafness
Cone-rod dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262069

rs_397517974

4 SubmittersRCV000041697 RCV001199582 RCV003445115 RCV003445116

NM_206933.4(USH2A):c.1179A>G (p.Gln393=)

SNV
Germline

Chr1:216324317

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143271

rs_148447919

10 SubmittersRCV000041704 RCV000360778 RCV000890954 RCV000308355

NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)

SNV
Germline

Chr1:215728169

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143275

rs_142381713

12 SubmittersRCV000041707 RCV000725418 RCV000986519 RCV001579153 RCV004814974

NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)

SNV
Germline

Chr1:215728142

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262070

rs_397517976

8 SubmittersRCV000041710 RCV001075329 RCV000669396 RCV001852856 RCV003226175 RCV003450756 RCV003450757

NM_206933.4(USH2A):c.12067-1G>C

SNV
Germline

Chr1:215680377

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262072

rs_397517977

5 SubmittersRCV000041711 RCV000670110 RCV003445117 RCV001852857 RCV003445118

NM_206933.4(USH2A):c.12067-2A>G

SNV
Germline

Chr1:215680378

Pathogenic

Rare genetic deafness
Usher syndrome type 2
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA262073

rs_397517978

18 SubmittersRCV000390593 RCV001003259 RCV001073917 RCV000412841 RCV000666727 RCV000983997 RCV001271128 RCV004732590

NM_206933.4(USH2A):c.12295-2A>G

SNV
Germline

Chr1:215675618

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262074

rs_151148854

9 SubmittersRCV000041714 RCV000670554 RCV001074339 RCV001057968 RCV001826587 RCV003445119

NM_206933.4(USH2A):c.12295-3T>A

SNV
Germline

Chr1:215675619

Pathogenic

not specified
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa

Reviewed By Expert Panel

CA143283

rs_111033518

11 SubmittersRCV000041717 RCV000414389 RCV000675157 RCV001004773 RCV001074786 RCV005007961 RCV001723628

NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)

SNV
Germline

Chr1:215675579

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA143284

rs_142095945

10 SubmittersRCV000041718 RCV001241616 RCV001270357 RCV001274935 RCV001376289 RCV002496660 RCV004814975 RCV004732591

NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)

SNV
Germline

Chr1:215675043

Pathogenic

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262082

rs_397517983

5 SubmittersRCV000041731 RCV000819445 RCV000670430 RCV001074436 RCV003450770 RCV003450771

NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)

SNV
Germline

Chr1:215675037

Likely pathogenic

not specified
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Reviewed By Expert Panel

CA143304

rs_397517984

9 SubmittersRCV000041732 RCV000504620 RCV001075301 RCV001231366 RCV001810411 RCV003460549 RCV005016325

NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)

SNV
Germline

Chr1:215674781

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Rare genetic deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA262084

rs_111033385

6 SubmittersRCV000041735 RCV000410671 RCV000725789 RCV000824778

NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter)

SNV
Germline

Chr1:215674598

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262086

rs_111033417

5 SubmittersRCV000041739 RCV001073672 RCV002514159 RCV003450773

NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)

SNV
Germline

Chr1:215674202

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143326

rs_730254

12 SubmittersRCV000041745 RCV000585560 RCV003887893 RCV001272941 RCV001376370

NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)

SNV
Germline

Chr1:215671031

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA143334

rs_45549044

14 SubmittersRCV000041750 RCV000756882 RCV000669410 RCV001532872 RCV005417445

NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)

SNV
Germline

Chr1:215671004

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143336

rs_372966682

5 SubmittersRCV000041751 RCV001376435 RCV001245454 RCV001272937

NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)

SNV
Germline

Chr1:215650755

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262089

rs_397517989

5 SubmittersRCV000041752 RCV000674521 RCV001380766 RCV003450782 RCV003450783

NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)

SNV
Germline

Chr1:215650648

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262091

rs_397517990

8 SubmittersRCV000041756 RCV001057445 RCV000665736 RCV001198544 RCV003887895 RCV003450788

NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)

SNV
Germline

Chr1:216323590

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143350

rs_35730265

14 SubmittersRCV000041760 RCV001099108 RCV000828962 RCV001099109 RCV003887896

NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)

SNV
Germline

Chr1:215648594

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143356

rs_139065588

7 SubmittersRCV000041763 RCV000665634 RCV001272933 RCV001034422 RCV003887899 RCV001579147

NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)

SNV
Germline

Chr1:215640615

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Cone-rod dystrophy
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA262093

rs_397517994

8 SubmittersRCV000041772 RCV000671978 RCV001852859 RCV000787726 RCV003114221 RCV003450801 RCV003450802 RCV004814977

NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)

SNV
Germline

Chr1:215628969

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143395

rs_111033402

7 SubmittersRCV001247642 RCV001810412 RCV002483032 RCV004814978

NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)

SNV
Germline

Chr1:215628837

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143403

rs_111033419

8 SubmittersRCV000041788 RCV001276136 RCV002504925 RCV002513599 RCV003460550

NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)

SNV
Germline

Chr1:216321921

Pathogenic

Rare genetic deafness
Retinitis pigmentosa
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA262095

rs_111033273

16 SubmittersRCV000041794 RCV000787727 RCV000984314 RCV001074602 RCV000413438 RCV000678646 RCV002483034 RCV004799759

NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)

SNV
Germline

Chr1:216292352

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143415

rs_35818432

16 SubmittersRCV000041795 RCV000415970 RCV001003284 RCV001101110 RCV001376290

NM_206933.4(USH2A):c.1841-2A>G

SNV
Germline

Chr1:216289412

Pathogenic

Rare genetic deafness
USH2A-related disorder
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Nonsyndromic genetic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA262097

rs_397518003

13 SubmittersRCV000041799 RCV000270130 RCV000665036 RCV000984014 RCV001271238 RCV001069761 RCV001544537

NM_206933.4(USH2A):c.2052A>G (p.Gln684=)

SNV
Germline

Chr1:216251018

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA143433

rs_111033248

13 SubmittersRCV000041805 RCV000888471 RCV000986546 RCV001097279 RCV004814979 RCV004018917

NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)

SNV
Germline

Chr1:216246848

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143442

rs_111033481

11 SubmittersRCV000041814 RCV000946559 RCV000986544 RCV001098935 RCV004814980

NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)

SNV
Germline

Chr1:216422073

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143444

rs_368798834

7 SubmittersRCV000041815 RCV000666896 RCV001075031 RCV001376238 RCV001560407

NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)

SNV
Germline

Chr1:216217421

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143454

rs_149304901

13 SubmittersRCV000041821 RCV001097184 RCV000487811 RCV001097185 RCV004814981 RCV001578841

NM_206933.4(USH2A):c.3158-6A>G

SNV
Germline

Chr1:216207437

Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA143458

rs_397518010

4 SubmittersRCV000041823 RCV003460551 RCV000505082

NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)

SNV
Germline

Chr1:216207280

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Rare genetic deafness
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262098

rs_397518011

9 SubmittersRCV000041825 RCV000669871 RCV000824791 RCV001386859 RCV001074200 RCV003450838

NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)

SNV
Germline

Chr1:216199817

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143465

rs_146462407

7 SubmittersRCV000041831 RCV000341412 RCV000974887 RCV000394479

NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)

SNV
Germline

Chr1:216199738

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA143467

rs_200276882

5 SubmittersRCV000041832 RCV000346771 RCV000291877 RCV000669144 RCV002513602 RCV003162354

NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)

SNV
Germline

Chr1:216196698

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Retinal dystrophy
USH2A-related disorder
Retinitis pigmentosa
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143476

rs_201709513

16 SubmittersRCV000041837 RCV001376516 RCV000726718 RCV000665274 RCV002307377 RCV001074345 RCV004732594 RCV001723629 RCV003326116

NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val)

SNV
Germline

Chr1:216175347

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA143485

rs_201710470

5 SubmittersRCV000041843 RCV001033957 RCV003450845 RCV003450846 RCV004965271

NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)

SNV
Germline

Chr1:216175319

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA143488

rs_148000219

13 SubmittersRCV000041844 RCV000724966 RCV001102385 RCV001102384

NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)

SNV
Germline

Chr1:216175293

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143494

rs_41303255

13 SubmittersRCV000041846 RCV000324312 RCV000513149 RCV000270447 RCV001073300

NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)

SNV
Germline

Chr1:216421859

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA143499

rs_111033479

6 SubmittersRCV000041848 RCV000881175 RCV001099314 RCV001099313 RCV004537152

NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val)

SNV
Germline

Chr1:216089061

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143501

rs_397518017

3 SubmittersRCV000041849 RCV000673507 RCV002514162

NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)

SNV
Germline

Chr1:216073292

Pathogenic

Rare genetic deafness
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
USH2A-related disorder

Reviewed By Expert Panel

CA262105

rs_375668376

11 SubmittersRCV000041861 RCV000710326 RCV000667951 RCV001074044 RCV001214945 RCV003460552 RCV004537153

NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)

SNV
Germline

Chr1:216073261

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Childhood onset hearing loss

Criteria Provided
Conflicting Classifications

CA143523

rs_140895792

9 SubmittersRCV000041863 RCV001276245 RCV001588861 RCV000585075 RCV001543605

NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)

SNV
Germline

Chr1:216072958

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA262107

rs_397518021

10 SubmittersRCV000041869 RCV000668739 RCV001289411 RCV003450858 RCV003450859 RCV004794353

NM_206933.4(USH2A):c.5857+2T>C

SNV
Germline

Chr1:216072887

Likely pathogenic

Rare genetic deafness
USH2A-related disorder
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A

Reviewed By Expert Panel

CA262109

rs_397518022

9 SubmittersRCV000041870 RCV000295857 RCV001074605 RCV001036145 RCV000675153 RCV001004785 RCV002291270

NM_206933.4(USH2A):c.5858-1G>A

SNV
Germline

Chr1:216070293

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262110

rs_397518023

8 SubmittersRCV000041871 RCV000665613 RCV000821430 RCV001826596 RCV003445127

NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)

SNV
Germline

Chr1:216070292

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
USH2A-related disorder
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143534

rs_41302239

20 SubmittersRCV000041872 RCV000504937 RCV000765069 RCV001196428 RCV000726918 RCV004724770 RCV001579152

NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)

SNV
Germline

Chr1:216070175

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Progressive cone dystrophy (without rod involvement)
USH2A-related disorder
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA248657

rs_41303287

16 SubmittersRCV000041873 RCV000585540 RCV000669397 RCV000787924 RCV004537154 RCV001273044

NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe)

SNV
Germline

Chr1:216070107

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143540

rs_370597096

4 SubmittersRCV000041876 RCV000665501 RCV001509571 RCV002513603

NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)

SNV
Germline

Chr1:216048563

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143546

rs_111033514

8 SubmittersRCV000041879 RCV000726921 RCV000664994 RCV001273040

NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)

SNV
Germline

Chr1:216046532

Pathogenic

Rare genetic deafness
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262111

rs_111033386

6 SubmittersRCV000041880 RCV001073793 RCV001042426 RCV001826597 RCV003450867

NM_206933.4(USH2A):c.6486G>A (p.Gln2162=)

SNV
Germline

Chr1:215999058

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143558

rs_397518025

3 SubmittersRCV000041887 RCV000664951 RCV002513604

NM_206933.4(USH2A):c.653T>A (p.Val218Glu)

SNV
Germline

Chr1:216365084

Conflicting classifications of pathogenicity

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA262114

rs_397518026

18 SubmittersRCV000041890 RCV000408647 RCV000504825 RCV001075204 RCV001826599 RCV000675152 RCV005237463 RCV004537156

NM_206933.4(USH2A):c.688G>A (p.Val230Met)

SNV
Germline

Chr1:216365049

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143578

rs_45500891

12 SubmittersRCV000041898 RCV000126255 RCV001097446 RCV001273813 RCV003888405

NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)

SNV
Germline

Chr1:215965369

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143585

rs_200038092

10 SubmittersRCV000041902 RCV000924303 RCV000490376 RCV000671627

NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)

SNV
Germline

Chr1:215934672

Pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262116

rs_397518029

4 SubmittersRCV000041905 RCV001205092 RCV003450885 RCV003466893

NM_206933.4(USH2A):c.7451+3G>A

SNV
Germline

Chr1:215900752

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143594

rs_397518030

4 SubmittersRCV000041908 RCV000667778 RCV000986529 RCV002513605

NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg)

SNV
Germline

Chr1:215888805

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143603

rs_397518032

3 SubmittersRCV000041913 RCV000668816 RCV005089381

NM_206933.4(USH2A):c.78T>C (p.Ala26=)

SNV
Germline

Chr1:216422259

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA143611

rs_59139861

4 SubmittersRCV000041917 RCV001101303 RCV000888634 RCV001101304

NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)

SNV
Germline

Chr1:216327637

Pathogenic/Likely pathogenic

Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA143613

rs_111033280

15 SubmittersRCV000041918 RCV000675158 RCV001074162 RCV001003288 RCV001060026 RCV003450896 RCV001826601

NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)

SNV
Germline

Chr1:216327619

Pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Usher syndrome
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262118

rs_397518036

8 SubmittersRCV000041921 RCV000669898 RCV001831706 RCV003389452 RCV001852861 RCV003888408 RCV003450899

NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)

SNV
Germline

Chr1:215878980

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143623

rs_143240767

10 SubmittersRCV000041924 RCV000490269 RCV000937215 RCV000665134 RCV003888409 RCV001579280

NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)

SNV
Germline

Chr1:215878891

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA262120

rs_111033529

6 SubmittersRCV000041927 RCV000937132 RCV001074998 RCV000505137 RCV000664665

NM_206933.4(USH2A):c.8559-2A>G

SNV
Germline

Chr1:215877882

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Rare genetic deafness
Condition: not provided

Reviewed By Expert Panel

CA262122

rs_397518039

20 SubmittersRCV000041930 RCV000132715 RCV000710341 RCV001075171 RCV003460553 RCV000665497 RCV000824785 RCV000592589

NM_206933.4(USH2A):c.879T>G (p.Leu293=)

SNV
Germline

Chr1:216325569

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143640

rs_3767698

6 SubmittersRCV000041935 RCV000879540 RCV001101203 RCV001101202 RCV003888412

NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)

SNV
Germline

Chr1:215845898

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262123

rs_397518041

13 SubmittersRCV000041937 RCV000760327 RCV000504790 RCV001075814 RCV000666550 RCV001193386 RCV001273709 RCV001376393

NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)

SNV
Germline

Chr1:215844481

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Usher syndrome

Criteria Provided
Conflicting Classifications

CA143644

rs_111033456

6 SubmittersRCV000041938 RCV001248550 RCV000669262 RCV001276962 RCV003389453

NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)

SNV
Germline

Chr1:215844349

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143646

rs_146445078

6 SubmittersRCV000041940 RCV000416029 RCV001810414 RCV005394243

NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter)

SNV
Germline

Chr1:215838058

Pathogenic

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262128

rs_397518046

4 SubmittersRCV000041947 RCV001216340 RCV001588862

NM_206933.4(USH2A):c.9371+1G>C

SNV
Germline

Chr1:215837990

Pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262130

rs_41308425

12 SubmittersRCV000041950 RCV000726813 RCV001002711 RCV001376451 RCV004767034 RCV005016326

NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)

SNV
Germline

Chr1:215817143

Pathogenic/Likely pathogenic

Usher syndrome
Rare genetic deafness
Inborn genetic diseases
Usher syndrome type 2
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA262131

rs_397518048

17 SubmittersRCV000041952 RCV000624783 RCV001003263 RCV002504928 RCV001055909 RCV001074810 RCV001831709 RCV001723630 RCV003387741 RCV003492342 RCV004732599

NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)

SNV
Germline

Chr1:215817108

Pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262133

rs_73090721

10 SubmittersRCV000041954 RCV000674717 RCV001075710 RCV001388971 RCV001273702 RCV001778686 RCV003450911

NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)

SNV
Germline

Chr1:215799066

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA262135

rs_111033263

10 SubmittersRCV000041960 RCV000668014 RCV001075163 RCV000787745 RCV001044836 RCV003450916 RCV003450915

NM_002900.3(RBP3):c.3238G>A (p.Asp1080Asn)

SNV
Germline

Chr10:47353508

Pathogenic

Retinitis pigmentosa 66
Condition: not provided

Criteria Provided
Single Submitter

CA344701

rs_146150511

3 SubmittersRCV000043517 RCV001852909

NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)

SNV
Germline

Chr4:15570446

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
CC2D2A-related disorder
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA144229

rs_386833755

7 SubmittersRCV000049719 RCV003335082 RCV001378831 RCV001723639 RCV005031533

NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)

SNV
Germline

Chr4:15510217

Pathogenic

Meckel syndrome, type 6
Condition: not provided
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA144239

rs_386833763

7 SubmittersRCV000049727 RCV004700347 RCV005031535 RCV001853050

NM_017739.4(POMGNT1):c.1285-2A>G

SNV
Germline

Chr1:46192438

Pathogenic/Likely pathogenic

Muscle eye brain disease
POMGNT1-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA263941

rs_386834012

6 SubmittersRCV000049991 RCV000292476 RCV000375211 RCV001853063 RCV000983991 RCV002514260 RCV003460639

NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)

SNV
Germline

Chr1:46192379

Conflicting classifications of pathogenicity

Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Conflicting Classifications

CA263945

rs_386834014

7 SubmittersRCV000049993 RCV002514262 RCV001542551 RCV003228903 RCV003460640 RCV002514261 RCV005025103

NM_017739.4(POMGNT1):c.1539+1G>A

SNV
Germline

Chr1:46192097

Pathogenic

Muscle eye brain disease
Condition: not provided
POMGNT1-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscle eye brain disease
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Myopathy caused by variation in POMGNT1
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA234711

rs_138642840

25 SubmittersRCV000049995 RCV000153760 RCV000323217 RCV000648199 RCV000763345 RCV000501155 RCV002295277 RCV002470740 RCV000983990 RCV001030748 RCV001269143 RCV001196668 RCV005025104 RCV002514263 RCV005357428 RCV004814990

NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)

SNV
Germline

Chr1:46189870

Pathogenic

Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA263954

rs_386834019

8 SubmittersRCV000050000 RCV000820354 RCV001542522 RCV002496725 RCV004566907 RCV002514265

NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)

SNV
Germline

Chr1:46189539

Pathogenic/Likely pathogenic

Muscle eye brain disease
Condition: not provided
Muscular dystrophy-dystroglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA263958

rs_267606962

8 SubmittersRCV000050002 RCV001269853 RCV002513696 RCV001853064 RCV003460642 RCV005016346

NM_017739.4(POMGNT1):c.1895+1G>A

SNV
Germline

Chr1:46189457

Pathogenic/Likely pathogenic

Muscle eye brain disease
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA263963

rs_386834024

8 SubmittersRCV000050005 RCV000240866 RCV001043665 RCV004700352 RCV001810415 RCV002513697

NM_017739.4(POMGNT1):c.1895+1G>T

SNV
Germline

Chr1:46189457

Pathogenic/Likely pathogenic

Muscle eye brain disease
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
POMGNT1-related disorder
Myopathy caused by variation in POMGNT1
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

CA263964

rs_386834024

15 SubmittersRCV000050006 RCV000490077 RCV001005010 RCV000704718 RCV000778243 RCV002470741 RCV001266790 RCV002513698 RCV001810416 RCV005025105

NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)

SNV
Germline

Chr1:46194853

Pathogenic

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA263981

rs_386834034

10 SubmittersRCV000050017 RCV000408610 RCV000578838 RCV000984294 RCV000984295 RCV001062800 RCV002272048 RCV003460643 RCV005016347

NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)

SNV
Germline

Chr1:46193874

Pathogenic

Muscle eye brain disease
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA223256

rs_386834039

9 SubmittersRCV000050023 RCV000081807 RCV001039421 RCV000984204 RCV000984205 RCV000984300 RCV003466920 RCV005016348

NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)

SNV
Germline

Chr12:88114488

Pathogenic

Meckel syndrome, type 4
Joubert syndrome 5
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Retinitis pigmentosa
Leber congenital amaurosis 10
Condition: not provided
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA144389

rs_386834152

11 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002285263 RCV002504949 RCV003460645 RCV004732641

NM_012106.4(ARL2BP):c.101-1G>C

SNV
Germline

Chr16:57248536

Pathogenic

Retinitis pigmentosa with or without situs inversus
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA10575604

rs_879255568

3 SubmittersRCV000055664 RCV001002870 RCV001257802

NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser)

SNV
Germline

Chr17:6426615

Pathogenic/Likely pathogenic

Leber congenital amaurosis 4
Condition: not provided
AIPL1-related disorder
AIPL1-related disorder
Leber congenital amaurosis 4
CONE-ROD DYSTROPHY, AIPL1-RELATED
Juvenile retinitis pigmentosa, AIPL1-related

Criteria Provided
Multiple Submitters
No Conflicts

CA227897

rs_142326926

6 SubmittersRCV000055941 RCV000086234 RCV004732645 RCV005625259

NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)

SNV
Germline

Chr3:97784972

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA280042

rs_137854907

5 SubmittersRCV000058868 RCV003764740 RCV005234962 RCV005025110

NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)

SNV
Germline

Chr1:197421741

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1311998

rs_267598278

4 SubmittersRCV000505040 RCV001854256 RCV004566911

NM_006269.2(RP1):c.4735T>G (p.Leu1579Val)

SNV
Germline

Chr8:54628617

Conflicting classifications of pathogenicity

Retinitis pigmentosa 1
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA4751936

rs_200860068

3 SubmittersRCV001000883 RCV001230487 RCV001158609

NM_201548.5(CERKL):c.598A>T (p.Lys200Ter)

SNV
Germline

Chr2:181573768

Pathogenic

Retinitis pigmentosa 26
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA266217

rs_398122963

6 SubmittersRCV000076911 RCV001236550 RCV001723654

NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys)

SNV
Germline

Chr4:625939

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA220605

rs_398123299

6 SubmittersRCV000078554 RCV000778735 RCV001074335 RCV001151258 RCV005252736

NM_000283.4(PDE6B):c.615C>T (p.Asp205=)

SNV
Germline

Chr4:634823

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA145991

rs_149293844

7 SubmittersRCV000078555 RCV000282490 RCV000335369 RCV000962986

NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)

SNV
Germline

Chr4:635913

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA145993

rs_62295357

7 SubmittersRCV000078556 RCV000488132 RCV000987384 RCV001151689

NM_000326.5(RLBP1):c.303C>T (p.Arg101=)

SNV
Germline

Chr15:89217163

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary retinal dystrophy
Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA220669

rs_144254383

5 SubmittersRCV000078643 RCV000292834 RCV000350084 RCV000398047 RCV004815001

NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)

SNV
Germline

Chr1:94042767

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA220683

rs_61750120

20 SubmittersRCV000078665 RCV000150052 RCV001002834 RCV001074904 RCV001195927 RCV002490678 RCV004537308 RCV005338078

NM_000350.3(ABCA4):c.5461-10T>C

SNV
Germline

Chr1:94011395

Pathogenic/Likely pathogenic

Cone-rod dystrophy 3
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Benign concentric annular macular dystrophy
Macular dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Stargardt disease
not specified
Retinitis pigmentosa 19
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA220687

rs_1800728

33 SubmittersRCV000008366 RCV000078669 RCV000177965 RCV000210327 RCV000210325 RCV000504857 RCV000678511 RCV000763440 RCV000787510 RCV000787771 RCV001000430 RCV001542559 RCV005625270 RCV004732655 RCV004975272

NM_000350.3(ABCA4):c.67-2A>G

SNV
Germline

Chr1:94113068

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal atrophy
Macular degeneration
Central scotoma
Visual impairment
Condition: not provided
Retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA345425

rs_398123339

8 SubmittersRCV000078672 RCV000415227 RCV000723703 RCV001074239 RCV005025131

NM_000440.3(PDE6A):c.1476A>C (p.Gln492His)

SNV
Germline

Chr5:149896500

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA146172

rs_17711594

6 SubmittersRCV000078824 RCV000407553 RCV000958573 RCV004815003

NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr)

SNV
Germline

Chr5:149884543

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 43
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA146174

rs_78775072

5 SubmittersRCV000078825 RCV001001657 RCV001156330 RCV001521115

NM_000440.3(PDE6A):c.594G>A (p.Val198=)

SNV
Germline

Chr5:149934599

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA220833

rs_398123394

3 SubmittersRCV000078826 RCV000386318

NM_001029883.3(PCARE):c.3291G>A (p.Gln1097=)

SNV
Germline

Chr2:29070971

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA147001

rs_183536545

3 SubmittersRCV000079373 RCV001138826 RCV001516841

NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)

SNV
Germline

Chr6:64945865

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
EYS-related disorder

Criteria Provided
Conflicting Classifications

CA221545

rs_398123574

6 SubmittersRCV000079529 RCV001164893 RCV001449926 RCV003935031

NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)

SNV
Germline

Chr6:64590266

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 25
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA147159

rs_182322608

7 SubmittersRCV000079542 RCV000664906 RCV000513065 RCV001162621

NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)

SNV
Germline

Chr6:63864319

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA221547

rs_398123575

14 SubmittersRCV000177866 RCV000504744 RCV000210330 RCV001376198

NM_001297.5(CNGB1):c.1479G>A (p.Pro493=)

SNV
Germline

Chr16:57931772

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 45
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA221637

rs_1052029

5 SubmittersRCV000079628 RCV001000458 RCV001121843 RCV001512152

NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter)

SNV
Germline

Chr16:57950463

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA221645

rs_372504780

5 SubmittersRCV000174506 RCV000505022 RCV001075139 RCV002498400

NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)

SNV
Germline

Chr15:31067145

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness 1C
Retinitis pigmentosa
TRPM1-related disorder

Criteria Provided
Conflicting Classifications

CA221943

rs_138886378

7 SubmittersRCV000080008 RCV000763957 RCV000787888 RCV003935039

NM_002900.3(RBP3):c.1631G>A (p.Arg544His)

SNV
Germline

Chr10:47350115

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 66
Condition: not provided
Retinitis pigmentosa
RBP3-related disorder

Criteria Provided
Conflicting Classifications

CA147601

rs_41284962

6 SubmittersRCV000080036 RCV000206963 RCV000966384 RCV001106782 RCV003974966

NM_004698.4(PRPF3):c.1032A>G (p.Thr344=)

SNV
Germline

Chr1:150335238

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
PRPF3-related disorder

Criteria Provided
Conflicting Classifications

CA222786

rs_143350315

4 SubmittersRCV000081164 RCV001100611 RCV003952514

NM_006017.3(PROM1):c.1977C>T (p.Asn659=)

SNV
Germline

Chr4:15991228

Conflicting classifications of pathogenicity

not specified
Stargardt disease 4
Retinitis pigmentosa
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Condition: not provided
Retinal disorders

Criteria Provided
Conflicting Classifications

CA148434

rs_149028760

7 SubmittersRCV000081346 RCV000326660 RCV000381327 RCV000296436 RCV000351307 RCV000892544 RCV005400701

NM_006343.3(MERTK):c.60A>T (p.Arg20Ser)

SNV
Germline

Chr2:111898795

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 38

Criteria Provided
Conflicting Classifications

CA148491

rs_35898499

6 SubmittersRCV000081391 RCV000086964 RCV000358600 RCV003389454

NM_006899.5(IDH3B):c.117+6C>A

SNV
Germline

Chr20:2663919

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
IDH3B-related disorder

Criteria Provided
Conflicting Classifications

CA148540

rs_191680997

5 SubmittersRCV000081467 RCV000395761 RCV000970913 RCV003935056

NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=)

SNV
Germline

Chr2:96289811

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA223097

rs_375734152

4 SubmittersRCV000081582 RCV000266740

NM_014336.5(AIPL1):c.244C>T (p.His82Tyr)

SNV
Germline

Chr17:6433951

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 4
Retinal dystrophy
AIPL1-related disorder

Criteria Provided
Conflicting Classifications

CA223111

rs_144822294

5 SubmittersRCV000081612 RCV001125500 RCV001125501 RCV004815007 RCV004732656

NM_014336.5(AIPL1):c.267C>T (p.Cys89=)

SNV
Germline

Chr17:6433928

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis Pigmentosa, Dominant
not specified
Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA223113

rs_62653020

9 SubmittersRCV000081613 RCV000345097 RCV000259077 RCV000306547 RCV001080955 RCV004815008

NM_014336.5(AIPL1):c.516T>C (p.His172=)

SNV
Germline

Chr17:6427007

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis Pigmentosa, Recessive
Retinitis pigmentosa
not specified
Leber congenital amaurosis 4
AIPL1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA223115

rs_62637017

10 SubmittersRCV000081614 RCV000311702 RCV000371077 RCV001001388 RCV001086330 RCV004542792 RCV004815009

NM_016247.4(IMPG2):c.1582A>G (p.Ile528Val)

SNV
Germline

Chr3:101244749

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA223245

rs_142710242

4 SubmittersRCV000081789 RCV000362724 RCV003888446

NM_016247.4(IMPG2):c.3038C>T (p.Pro1013Leu)

SNV
Germline

Chr3:101232976

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA148793

rs_116450347

4 SubmittersRCV000081792 RCV000401059 RCV000898540

NM_018418.5(SPATA7):c.729C>T (p.Arg243=)

SNV
Germline

Chr14:88426588

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Leber congenital amaurosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA223536

rs_151338404

6 SubmittersRCV000081956 RCV000327877 RCV000952079 RCV001699118

NM_022367.4(SEMA4A):c.1301T>C (p.Met434Thr)

SNV
Germline

Chr1:156172992

Conflicting classifications of pathogenicity

Condition: not provided
Colorectal cancer
Retinitis pigmentosa
Cone-rod dystrophy 10
Retinal dystrophy
Optic atrophy

Criteria Provided
Conflicting Classifications

CA223636

rs_146822426

6 SubmittersRCV000082098 RCV000417364 RCV001095829 RCV001095830 RCV004815015 RCV004815016

NM_205861.3(DHDDS):c.909G>T (p.Ser303=)

SNV
Germline

Chr1:26469038

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 59

Criteria Provided
Conflicting Classifications

CA223788

rs_376517028

2 SubmittersRCV000082244 RCV001854439

NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)

SNV
Germline

Chr2:61839851

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 28
FAM161A-related disorder

Criteria Provided
Conflicting Classifications

CA223829

rs_139266382

7 SubmittersRCV000416124 RCV001138007 RCV001274720 RCV003952528

NM_152419.3(HGSNAT):c.1250+1G>A

SNV
Germline

Chr8:43191596

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Sanfilippo syndrome
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA224186

rs_398124544

11 SubmittersRCV000082652 RCV000668206 RCV001074721 RCV001192639 RCV001065437 RCV002288581

NM_152419.3(HGSNAT):c.1464+1G>A

SNV
Germline

Chr8:43193844

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA224187

rs_398124545

7 SubmittersRCV000082654 RCV000671662 RCV001221115

NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)

SNV
Germline

Chr1:215970720

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA224398

rs_398124619

9 SubmittersRCV000675016 RCV000760348 RCV001002688 RCV001075205 RCV001376458

NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)

SNV
Germline

Chr1:215888734

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa
Usher syndrome

Criteria Provided
Conflicting Classifications

CA224400

rs_398124620

5 SubmittersRCV000082831 RCV005007997 RCV001723661 RCV003230399

NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)

SNV
Germline

Chr2:27444503

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA149722

rs_149614625

6 SubmittersRCV000083268 RCV001228000 RCV001723662 RCV002483157 RCV004737195

NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)

SNV
Germline

Chr2:27447544

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Joubert syndrome
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Multiple Submitters
No Conflicts

CA149724

rs_587777079

5 SubmittersRCV000083270 RCV000201713 RCV002483158 RCV003225027 RCV005213205

NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)

SNV
Germline

Chr2:27480049

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 without polydactyly
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Inborn genetic diseases
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Condition: not provided

Criteria Provided
Conflicting Classifications

CA149729

rs_145541911

6 SubmittersRCV000083274 RCV001303423 RCV003278664 RCV004549522 RCV002490732 RCV003153361

NM_015662.3(IFT172):c.3907C>T (p.Arg1303Ter)

SNV
Germline

Chr2:27453428

Pathogenic

Short-rib thoracic dysplasia 10 with polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Single Submitter

CA149735

rs_587777087

2 SubmittersRCV000083279 RCV001854452

NM_014714.4(IFT140):c.874G>A (p.Val292Met)

SNV
Germline

Chr16:1587961

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Jeune thoracic dystrophy
Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA149747

rs_431905521

7 SubmittersRCV000083297 RCV000626469 RCV000515922 RCV004815018 RCV005016363 RCV004579537

NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)

SNV
Germline

Chr16:1571494

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 80
Retinitis pigmentosa
IFT140-related disorder
Cranioectodermal dysplasia 5
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA149748

rs_199826737

15 SubmittersRCV000626462 RCV001075445 RCV001268554 RCV001542691 RCV002509205 RCV003398688 RCV005259988 RCV005016364

NM_000322.5(PRPH2):c.249C>T (p.Tyr83=)

SNV
Germline

Chr6:42722086

Conflicting classifications of pathogenicity

Condition: not provided
PRPH2-related disorder
Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Retinitis pigmentosa
Retinal dystrophy
Pigmentary retinal dystrophy
Cone-rod dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA226218

rs_61755775

8 SubmittersRCV000084960 RCV001086017 RCV001165122 RCV001158408 RCV001158409 RCV001165124 RCV003888453 RCV001158410 RCV001165123 RCV001699036

NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)

SNV
Germline

Chr6:42722298

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary retinal dystrophy
Patterned macular dystrophy 1
PRPH2-related disorder
Choroidal dystrophy, central areolar 2
Adult-onset foveomacular vitelliform dystrophy
Retinitis pigmentosa
Cone-rod dystrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA226230

rs_61754402

9 SubmittersRCV000084967 RCV001158514 RCV001165232 RCV001078785 RCV001165228 RCV001165230 RCV001165229 RCV001165231 RCV003888454

NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)

SNV
Germline

Chr6:42721913

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
Patterned macular dystrophy 1
PRPH2-related disorder
Retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium
Retinitis pigmentosa
Cone-rod dystrophy
Autosomal recessive bestrophinopathy
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Retinitis pigmentosa 7
Vitelliform macular dystrophy 3
Vitelliform macular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA185988

rs_61755781

12 SubmittersRCV000084969 RCV001250306 RCV000161145 RCV001051727 RCV001074856 RCV001250316 RCV001723663 RCV001250317 RCV001353037 RCV005031577 RCV002508140

NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg)

SNV
Germline

Chr6:42721877

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226236

rs_61755785

7 SubmittersRCV000084973 RCV001315051 RCV003238719 RCV004815032

NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)

SNV
Germline

Chr6:42721866

Pathogenic/Likely pathogenic

Condition: not provided
Pigmentary retinopathy
Macular degeneration
Abnormality of retinal pigmentation
Blurred vision
Retinal dystrophy
PRPH2-related disorder
Pigmentary retinal dystrophy
Retinitis pigmentosa
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA226238

rs_61755787

7 SubmittersRCV000084975 RCV000626661 RCV001074377 RCV001378482 RCV001270171 RCV001250327 RCV001250326

NM_000322.5(PRPH2):c.533A>G (p.Gln178Arg)

SNV
Germline

Chr6:42721802

Conflicting classifications of pathogenicity

Condition: not provided
PRPH2-related disorder
Retinitis pigmentosa 7
Choroidal dystrophy, central areolar 2

Criteria Provided
Conflicting Classifications

CA226250

rs_61755795

5 SubmittersRCV000084984 RCV001854488 RCV005234980 RCV005252746

NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg)

SNV
Germline

Chr6:42721800

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
PRPH2-related disorder
Retinitis pigmentosa 7

Criteria Provided
Multiple Submitters
No Conflicts

CA226252

rs_61755796

5 SubmittersRCV000084985 RCV001250370 RCV002514515 RCV005252747

NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)

SNV
Germline

Chr6:42704559

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226273

rs_61755800

8 SubmittersRCV000085000 RCV000504657 RCV001854491 RCV003888459

NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)

SNV
Germline

Chr6:42704547

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226283

rs_61755805

9 SubmittersRCV000085006 RCV001058357 RCV000787871 RCV004815033

NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)

SNV
Germline

Chr6:42704534

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
PRPH2-related disorder
Retinal dystrophy
Macular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226293

rs_61755810

8 SubmittersRCV000085011 RCV001003141 RCV001346727 RCV001075618 RCV004798773

NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)

SNV
Germline

Chr6:42704485

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Pigmentary retinal dystrophy
Choroidal dystrophy, central areolar 2
Adult-onset foveomacular vitelliform dystrophy
Patterned macular dystrophy 1
not specified
Cone-rod dystrophy
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA226298

rs_61755813

7 SubmittersRCV000085014 RCV001159969 RCV001164883 RCV001164884 RCV001164885 RCV001164887 RCV001530323 RCV001164886 RCV001439459

NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys)

SNV
Germline

Chr6:42704461

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

No Assertion Criteria Provided

CA226306

rs_61755816

3 SubmittersRCV000085018 RCV001003139

NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)

SNV
Germline

Chr6:42704457

Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Vitelliform macular dystrophy 3

Criteria Provided
Single Submitter

CA226307

rs_61755817

4 SubmittersRCV000085019 RCV000132580 RCV003114252

NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)

SNV
Germline

Chr6:42704396

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 7
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226312

rs_62645935

8 SubmittersRCV000085022 RCV001705814 RCV002514517 RCV004815036

NM_000322.5(PRPH2):c.828+3A>T

SNV
Germline

Chr6:42704362

Pathogenic

Condition: not provided
Retinitis pigmentosa
Doyne honeycomb retinal dystrophy
PRPH2-related disorder
Retinal dystrophy
Choroideremia
Cone-rod dystrophy
Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 2
Stargardt disease
Patterned macular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA226319

rs_281865373

10 SubmittersRCV000085026 RCV001250357 RCV001250358 RCV001047656 RCV001073686 RCV001250345 RCV001250359 RCV001250346 RCV001250347 RCV001250344 RCV001542666

NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)

SNV
Germline

Chr6:42698470

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Stargardt disease
Retinal dystrophy
PRPH2-related disorder
Retinitis pigmentosa 7
Patterned macular dystrophy 1
Vitelliform macular dystrophy 3
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy

Criteria Provided
Conflicting Classifications

CA226322

rs_62645939

11 SubmittersRCV000085028 RCV001161271 RCV001250360 RCV004815038 RCV001438086 RCV005394359

NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)

SNV
Germline

Chr6:42698398

Conflicting classifications of pathogenicity

Condition: not provided
Adult-onset foveomacular vitelliform dystrophy
Cone-rod dystrophy
Patterned macular dystrophy 1
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy
PRPH2-related disorder
Stargardt disease
Patterned dystrophy of the retinal pigment epithelium
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA226331

rs_61748434

9 SubmittersRCV000085034 RCV000261808 RCV000406549 RCV000298015 RCV000301680 RCV000356624 RCV001066591 RCV001250365 RCV001250366 RCV000787872 RCV004815041

NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)

SNV
Germline

Chr6:42722241

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease
Vitelliform macular dystrophy 3
Retinal dystrophy
PRPH2-related disorder
not specified
Optic atrophy
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Retinitis pigmentosa 7
Vitelliform macular dystrophy 3

Criteria Provided
Conflicting Classifications

CA226333

rs_61755767

8 SubmittersRCV000085036 RCV001250380 RCV001352968 RCV003888461 RCV001462596 RCV001530276 RCV004815042 RCV005394360

NM_001034853.2(RPGR):c.1245+3A>G

SNV
Germline

ChrX:38298953

Pathogenic

Retinitis pigmentosa 3
Condition: not provided
Retinal dystrophy
Primary ciliary dyskinesia
RPGR-related retinopathy

Reviewed By Expert Panel

CA226348

rs_62635002

5 SubmittersRCV000010579 RCV000085047 RCV001073791 RCV002514520 RCV005415406

NM_001034853.2(RPGR):c.248-2A>G

SNV
Unknown

ChrX:38321091

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Single Submitter

CA226394

rs_62638633

3 SubmittersRCV000085084 RCV000787714

NM_001034853.2(RPGR):c.415G>T (p.Glu139Ter)

SNV
Germline

ChrX:38318883

Pathogenic

Condition: not provided
Retinitis pigmentosa 3

Criteria Provided
Single Submitter

CA226420

rs_62638645

2 SubmittersRCV000085106 RCV005252748

NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg)

SNV
Germline

ChrX:38304665

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 3

No Assertion Criteria Provided

CA226457

rs_62640589

2 SubmittersRCV000085132 RCV001251553

NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro)

SNV
Germline

Chr1:68438237

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226480

rs_62646883

3 SubmittersRCV000085147 RCV001854496 RCV004801916

NM_000329.3(RPE65):c.11+5G>A

SNV
Germline

Chr1:68449890

Pathogenic

Leber congenital amaurosis 2
Condition: not provided
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy
RPE65-related disorder
Inborn genetic diseases

Reviewed By Expert Panel

CA226483

rs_61751276

24 SubmittersRCV000022752 RCV000085149 RCV000505050 RCV001275342 RCV000524808 RCV000678614 RCV002498448 RCV003460766 RCV004732661 RCV004955275

NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)

SNV
Germline

Chr1:68446837

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226491

rs_61751281

11 SubmittersRCV000085155 RCV000132582 RCV001047503 RCV001275340 RCV001250675 RCV001074416 RCV002498450 RCV004527312

NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)

SNV
Germline

Chr1:68431491

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA226497

rs_62636298

5 SubmittersRCV000085159 RCV001041992 RCV001089894 RCV002509207

NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)

SNV
Germline

Chr1:68431371

Likely pathogenic

Condition: not provided
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Inborn genetic diseases
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement

Reviewed By Expert Panel

CA226499

rs_62636299

8 SubmittersRCV000085160 RCV001074061 RCV004767068 RCV001323215 RCV003466997 RCV003764786 RCV004955276 RCV005025143

NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)

SNV
Germline

Chr1:68446824

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Autosomal recessive retinitis pigmentosa
RPE65-related disorder
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226506

rs_61751282

9 SubmittersRCV000085166 RCV000701390 RCV001250676 RCV001275338 RCV001808321 RCV001257816 RCV004528783 RCV005620901

NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)

SNV
Germline

Chr1:68431131

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA226513

rs_62637006

6 SubmittersRCV000085172 RCV001250694 RCV002513922 RCV001376503

NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)

SNV
Germline

Chr1:68431097

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA226515

rs_62637007

6 SubmittersRCV000085173 RCV001250706 RCV003764787 RCV004786365

NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)

SNV
Germline

Chr1:68429927

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA226517

rs_62653015

11 SubmittersRCV000085175 RCV001250703 RCV001826773 RCV001854497 RCV003764788 RCV005025144

NM_000329.3(RPE65):c.235T>C (p.Tyr79His)

SNV
Germline

Chr1:68446720

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226528

rs_61752869

3 SubmittersRCV000085182 RCV003764790 RCV004801917

NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)

SNV
Germline

Chr1:68444857

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa
RPE65-related recessive retinopathy
Inborn genetic diseases
Retinal dystrophy
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA226533

rs_61752873

12 SubmittersRCV000085186 RCV002247485 RCV001061074 RCV001275336 RCV001731373 RCV003764791 RCV003242980 RCV004815048 RCV005031578

NM_000329.3(RPE65):c.2T>C (p.Met1Thr)

SNV
Germline

Chr1:68449904

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA226537

rs_281865285

6 SubmittersRCV000085190 RCV001376504 RCV001377675 RCV004815049 RCV005606645 RCV005025145

NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)

SNV
Germline

Chr1:68444825

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Single Submitter

CA226539

rs_62642584

2 SubmittersRCV000085191 RCV005031580

NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)

SNV
Germline

Chr1:68444825

Pathogenic

Condition: not provided
RPE65-related disorder
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226540

rs_62642584

11 SubmittersRCV000085192 RCV001249229 RCV000763389 RCV003467000 RCV001275333 RCV004815050 RCV003764793

NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)

SNV
Germline

Chr1:68444656

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Inborn genetic diseases
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226545

rs_61752877

13 SubmittersRCV000085195 RCV000538669 RCV000986332 RCV003242981 RCV001275332 RCV003888467 RCV002490740 RCV003764794

NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)

SNV
Germline

Chr1:68444596

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226550

rs_61752880

4 SubmittersRCV000085198 RCV001854498 RCV004566978 RCV004595854

NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)

SNV
Germline

Chr1:68440997

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related disorder
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement

Reviewed By Expert Panel

CA226557

rs_61752883

11 SubmittersRCV000085203 RCV000678617 RCV001250708 RCV001831894 RCV000778252 RCV001245153 RCV004527316 RCV005031581

NM_000329.3(RPE65):c.544C>T (p.His182Tyr)

SNV
Germline

Chr1:68440952

Pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226559

rs_61752884

5 SubmittersRCV000085205 RCV001257821 RCV001388257 RCV004566979 RCV004527317

NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)

SNV
Germline

Chr1:68448653

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA226576

rs_61751277

10 SubmittersRCV000085218 RCV001218527 RCV002222384 RCV003764796 RCV001250672

NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)

SNV
Germline

Chr1:68439571

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226579

rs_61752896

9 SubmittersRCV000085220 RCV001207227 RCV000678618 RCV005357534 RCV001831895 RCV003764797

NM_000329.3(RPE65):c.858+1G>A

SNV
Germline

Chr1:68439190

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA226582

rs_61752899

3 SubmittersRCV000085223 RCV001250702 RCV001388254

NM_000329.3(RPE65):c.858+1G>T

SNV
Germline

Chr1:68439190

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226583

rs_61752899

3 SubmittersRCV000085224 RCV001270786 RCV002513924

NM_000329.3(RPE65):c.95-2A>T

SNV
Germline

Chr1:68446862

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy
Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA226591

rs_61751279

14 SubmittersRCV000085232 RCV000668398 RCV001003189 RCV002498451 RCV003460771 RCV001074560 RCV001250674 RCV005252750

NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)

SNV
Germline

Chr1:68438988

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA226592

rs_61752905

6 SubmittersRCV000085233 RCV001089895 RCV001854499 RCV003323394

NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)

SNV
Germline

Chr1:68438951

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226599

rs_61752908

5 SubmittersRCV000085237 RCV001250691 RCV000808234 RCV005606646 RCV005620903

NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)

SNV
Germline

Chr1:94079421

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA226872

rs_61748549

13 SubmittersRCV000085376 RCV000764205 RCV000986372 RCV001096640 RCV001073759 RCV001257823 RCV005357535

NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)

SNV
Germline

Chr1:94079339

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Retinitis pigmentosa
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA179692

rs_61748550

11 SubmittersRCV000085378 RCV000152707 RCV001074409 RCV002513925 RCV003398695 RCV004558301

NM_000350.3(ABCA4):c.1610G>A (p.Arg537His)

SNV
Germline

Chr1:94063262

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Macular degeneration
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA226906

rs_61752395

6 SubmittersRCV000085407 RCV000276834 RCV000315522 RCV000363019 RCV000369062 RCV001074421 RCV001100054

NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)

SNV
Germline

Chr1:94111579

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
ABCA4-related disorder
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226908

rs_150774447

10 SubmittersRCV000085408 RCV000210980 RCV000826094 RCV004529882 RCV004815079 RCV005031583

NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)

SNV
Germline

Chr1:94063224

Pathogenic/Likely pathogenic

Condition: not provided
ABCA4-related disorder
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Retinal dystrophy
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA226915

rs_61748558

12 SubmittersRCV000085413 RCV000778263 RCV000782281 RCV000763048 RCV000761253 RCV001074836 RCV004558302

NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro)

SNV
Germline

Chr1:94063157

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA226919

rs_61748559

5 SubmittersRCV000085417 RCV001074238 RCV004800281

NM_000350.3(ABCA4):c.1760+2T>G

SNV
Germline

Chr1:94063110

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA226922

rs_61751385

6 SubmittersRCV000085420 RCV000132587 RCV003888471 RCV005031584 RCV005252751

NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)

SNV
Germline

Chr1:94111561

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA226931

rs_55732384

8 SubmittersRCV000085427 RCV000408452 RCV000763051 RCV001073359 RCV004558304

NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)

SNV
Germline

Chr1:94062710

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinitis pigmentosa
ABCA4-related disorder
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Stargardt disease
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA226932

rs_61749409

23 SubmittersRCV000085428 RCV000504951 RCV000408597 RCV000850520 RCV001353025 RCV002250560 RCV001723664 RCV001849310 RCV002498452 RCV003324506 RCV004558305

NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)

SNV
Germline

Chr1:94062611

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA226949

rs_61749414

6 SubmittersRCV000085440 RCV000408491 RCV004815083 RCV005055575

NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)

SNV
Germline

Chr1:94062587

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cone-Rod Dystrophy, Recessive
Macular degeneration
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA201008

rs_61749417

9 SubmittersRCV000085445 RCV000174470 RCV000318324 RCV000260757 RCV000353201 RCV000356519 RCV000986369 RCV001075850 RCV001098279

NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)

SNV
Germline

Chr1:94062586

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA226958

rs_61754024

13 SubmittersRCV000085446 RCV000408583 RCV001074170 RCV001098278 RCV004720237 RCV005364979

NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn)

SNV
Germline

Chr1:94062581

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226960

rs_61749418

6 SubmittersRCV000085447 RCV001074983 RCV004689454 RCV005025146

NM_000350.3(ABCA4):c.1937+1G>A

SNV
Germline

Chr1:94062576

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Stargardt disease 3
See cases
Cone dystrophy and rod monochromatism
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226961

rs_61752401

12 SubmittersRCV000085448 RCV000408499 RCV001542645 RCV004558306 RCV004584346 RCV005417459 RCV004815084

NM_000350.3(ABCA4):c.1938-1G>A

SNV
Germline

Chr1:94060760

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Condition: not provided
Macular dystrophy

Criteria Provided
Single Submitter

CA226963

rs_61751263

4 SubmittersRCV000008351 RCV000008352 RCV000085450 RCV000504968

NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)

SNV
Germline

Chr1:94111546

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226964

rs_62654395

7 SubmittersRCV000085451 RCV000132588 RCV001074366 RCV002490741

NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)

SNV
Germline

Chr1:94060740

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226965

rs_61749420

13 SubmittersRCV000085452 RCV000408546 RCV000763047 RCV001074668 RCV004732662

NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)

SNV
Germline

Chr1:94111537

Pathogenic/Likely pathogenic

Condition: not provided
Abnormal macular morphology
Peripheral neuropathy
Abnormal retinal morphology
Retinal dystrophy
Age related macular degeneration 2
ABCA4-related disorder
Retinitis pigmentosa
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226972

rs_62654397

9 SubmittersRCV000085457 RCV000414796 RCV000626666 RCV001074514 RCV001198384 RCV004529883 RCV004586547 RCV004796008

NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)

SNV
Germline

Chr1:94060656

Pathogenic/Likely pathogenic

Condition: not provided
Benign concentric annular macular dystrophy
Leber congenital amaurosis
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Stargardt disease 3
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226973

rs_61749423

17 SubmittersRCV000085458 RCV000210310 RCV000504983 RCV000408512 RCV001073628 RCV001195987 RCV005025147 RCV004558307 RCV004732663

NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly)

SNV
Germline

Chr1:94111517

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA226985

rs_61748526

4 SubmittersRCV000085466 RCV000504688 RCV004782054

NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp)

SNV
Germline

Chr1:94056683

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA226990

rs_61751395

9 SubmittersRCV000085471 RCV000408526 RCV001074642 RCV004732664 RCV005406818

NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg)

SNV
Germline

Chr1:94055237

Pathogenic

Condition: not provided
Retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227001

rs_61749433

7 SubmittersRCV000085480 RCV001075705 RCV004732665 RCV004586548 RCV005025148

NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)

SNV
Germline

Chr1:94055138

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Conflicting Classifications

CA227010

rs_61749437

7 SubmittersRCV000085487 RCV000504877 RCV001075467 RCV005025149

NM_000350.3(ABCA4):c.2617T>C (p.Phe873Leu)

SNV
Germline

Chr1:94051669

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227018

rs_62642570

3 SubmittersRCV000085496 RCV003235038

NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)

SNV
Germline

Chr1:94048921

Conflicting classifications of pathogenicity

Condition: not provided
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Macular degeneration
Age related macular degeneration 2
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227022

rs_61749440

11 SubmittersRCV000085500 RCV000375069 RCV000260644 RCV000280747 RCV000315748 RCV001197697 RCV001096530 RCV004815090

NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)

SNV
Germline

Chr1:94111454

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227042

rs_61748529

11 SubmittersRCV000085515 RCV000986376 RCV005025150 RCV004815092

NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)

SNV
Germline

Chr1:94046960

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Macular degeneration
Stargardt Disease, Recessive
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227045

rs_61754033

5 SubmittersRCV000085518 RCV000271906 RCV000287276 RCV000377007 RCV000322409 RCV001099949 RCV004815093

NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)

SNV
Germline

Chr1:94046925

Pathogenic/Likely pathogenic

Condition: not provided
not specified
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227050

rs_61749450

5 SubmittersRCV000085522 RCV000999861 RCV002225080 RCV005031585

NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)

SNV
Germline

Chr1:94046922

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227051

rs_61749451

7 SubmittersRCV000085523 RCV000504717 RCV000505078 RCV002498454 RCV004732666

NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)

SNV
Germline

Chr1:94044697

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Conflicting Classifications

CA227059

rs_61749454

10 SubmittersRCV000085529 RCV000504904 RCV001074424 RCV004732667 RCV005025151

NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)

SNV
Germline

Chr1:94044692

Conflicting classifications of pathogenicity

Condition: not provided
Macular dystrophy
Retinal dystrophy
Age related macular degeneration 2
ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Optic atrophy

Criteria Provided
Conflicting Classifications

CA227061

rs_61749455

13 SubmittersRCV000085531 RCV000505091 RCV001073380 RCV002247488 RCV004529886 RCV003989317 RCV005025152 RCV004699118 RCV004815096

NM_000350.3(ABCA4):c.3050+5G>A

SNV
Germline

Chr1:94044608

Pathogenic

Condition: not provided
Stargardt disease
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227073

rs_61751262

6 SubmittersRCV000085541 RCV001002836 RCV001073618 RCV005025153

NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala)

SNV
Germline

Chr1:94043471

Pathogenic

Condition: not provided
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227075

rs_61749457

3 SubmittersRCV000085543 RCV004796009

NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)

SNV
Germline

Chr1:94043462

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinitis pigmentosa
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227078

rs_61749459

9 SubmittersRCV000085545 RCV000408496 RCV003324507 RCV004800282 RCV004529887 RCV004815097

NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp)

SNV
Germline

Chr1:94043377

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227083

rs_61750062

4 SubmittersRCV000085550 RCV005025154 RCV004815099

NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu)

SNV
Germline

Chr1:94042877

Pathogenic

Condition: not provided
ABCA4-related disorder
Cone-rod dystrophy
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227093

rs_61750065

8 SubmittersRCV000085559 RCV002255094 RCV003324508 RCV004689455 RCV004815102 RCV005025155

NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)

SNV
Germline

Chr1:94042830

Pathogenic

Condition: not provided
Retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Abnormality of the eye
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Cone-rod dystrophy 3
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227097

rs_61751398

13 SubmittersRCV000085562 RCV001075833 RCV001199228 RCV001808323 RCV001814057 RCV002498455 RCV002466427 RCV004732669

NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)

SNV
Germline

Chr1:94121014

Pathogenic/Likely pathogenic

Condition: not provided
ABCA4-related disorder
Retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227106

rs_62645946

10 SubmittersRCV000085568 RCV000779010 RCV001074134 RCV002247489 RCV001723665 RCV002051808 RCV003324509 RCV003324510 RCV005025156

NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)

SNV
Germline

Chr1:94041345

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy
Age related macular degeneration 2
ABCA4-related disorder
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA227116

rs_1801269

12 SubmittersRCV000085576 RCV000408578 RCV000763045 RCV001075726 RCV001199211 RCV004732670 RCV005252752

NM_000350.3(ABCA4):c.3749T>C (p.Leu1250Pro)

SNV
Germline

Chr1:94037209

Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227132

rs_61750128

3 SubmittersRCV000085590 RCV005417460

NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)

SNV
Germline

Chr1:94031015

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA227169

rs_61750137

13 SubmittersRCV000085616 RCV000408549 RCV001074847 RCV002490742 RCV003155072

NM_000350.3(ABCA4):c.4253+43G>A

SNV
Germline

Chr1:94030953

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
ABCA4-related disorder
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA227172

rs_61754045

10 SubmittersRCV000085618 RCV001290208 RCV001199365 RCV004529888 RCV004815111 RCV005357536

NM_000350.3(ABCA4):c.4253+4C>T

SNV
Germline

Chr1:94030992

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA227173

rs_61754044

10 SubmittersRCV000085619 RCV000624755 RCV001075880 RCV004562247 RCV005252753 RCV005417461

NM_000350.3(ABCA4):c.4253+5G>T

SNV
Germline

Chr1:94030991

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227174

rs_61750138

7 SubmittersRCV000085620 RCV000504676 RCV001073983 RCV004529889 RCV005031586

NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)

SNV
Germline

Chr1:94030497

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Macular degeneration
Condition: not provided
not specified
Cone-Rod Dystrophy, Recessive
Retinal dystrophy
ABCA4-related disorder
Stargardt Disease, Recessive

Criteria Provided
Conflicting Classifications

CA202170

rs_1800549

9 SubmittersRCV000346856 RCV000408392 RCV000085624 RCV000176915 RCV000294305 RCV003888474 RCV001098065 RCV000307168

NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp)

SNV
Germline

Chr1:94030464

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227182

rs_61750140

4 SubmittersRCV000085628 RCV001257845 RCV004815112

NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)

SNV
Germline

Chr1:94030452

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Retinal dystrophy
Age related macular degeneration 2
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227185

rs_61750142

14 SubmittersRCV000085631 RCV000408447 RCV000779005 RCV001073587 RCV002247490 RCV003324511 RCV005025157

NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)

SNV
Germline

Chr1:94029527

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Age related macular degeneration 2
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227192

rs_61750145

14 SubmittersRCV000085636 RCV000408536 RCV001002829 RCV001198562 RCV001074852 RCV002498456 RCV004732671

NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)

SNV
Germline

Chr1:94029522

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder
Cone-rod dystrophy 3
Cone-rod dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA227193

rs_61750146

15 SubmittersRCV000085637 RCV000408472 RCV000763043 RCV001073630 RCV001808325 RCV004732672 RCV005234981 RCV005417462 RCV005417463

NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)

SNV
Germline

Chr1:94029521

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227195

rs_61750147

5 SubmittersRCV000085639 RCV002225081 RCV005025158

NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)

SNV
Germline

Chr1:94029515

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Macular dystrophy
ABCA4-related disorder
Retinitis pigmentosa 19
See cases
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227198

rs_61751402

21 SubmittersRCV000085641 RCV000177442 RCV000210300 RCV000787763 RCV000779003 RCV001542643 RCV004584347 RCV005025159

NM_000350.3(ABCA4):c.4539+1G>T

SNV
Germline

Chr1:94029444

Pathogenic

Retinitis pigmentosa 19
Cone-rod dystrophy 3
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227207

rs_61751388

6 SubmittersRCV000008343 RCV000008344 RCV000085647 RCV001723666

NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)

SNV
Germline

Chr1:94025011

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Inborn genetic diseases
Stargardt disease
Retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227218

rs_61750152

16 SubmittersRCV000085656 RCV000177509 RCV000210286 RCV000623715 RCV001002827 RCV001075849 RCV001542561 RCV005025160

NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)

SNV
Germline

Chr1:94024994

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
maculopathy
Retinal dystrophy
Retinitis pigmentosa 19
Age-related macular degeneration
Cone-rod dystrophy 3
Retinitis pigmentosa
ABCA4-related disorder
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227219

rs_62642574

13 SubmittersRCV000085657 RCV000177510 RCV001002826 RCV001074286 RCV001535669 RCV003235039 RCV004529890 RCV005025161

NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)

SNV
Germline

Chr1:94024978

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
not specified
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Conflicting Classifications

CA227222

rs_62642575

9 SubmittersRCV000085659 RCV000408504 RCV001002608 RCV004815115 RCV005025162

NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)

SNV
Germline

Chr1:94103119

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Abnormal retinal morphology
Inborn genetic diseases
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227225

rs_62646863

17 SubmittersRCV000085663 RCV000504910 RCV000626667 RCV000622993 RCV000764207 RCV001100155 RCV004815116

NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)

SNV
Germline

Chr1:94021934

Conflicting classifications of pathogenicity

Condition: not provided
Cone-Rod Dystrophy, Recessive
ABCA4-related disorder
Retinitis Pigmentosa, Recessive
Retinal dystrophy
Stargardt disease
Cone-rod dystrophy
Cone-rod dystrophy 3
Stargardt disease
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227226

rs_1762111

19 SubmittersRCV000085664 RCV000335992 RCV000314956 RCV000407014 RCV000505175 RCV000787502 RCV000787778 RCV001005005 RCV002509209

NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)

SNV
Germline

Chr1:94021695

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 19
Retinitis pigmentosa
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Cone-rod dystrophy
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227239

rs_61750155

20 SubmittersRCV000085674 RCV000408465 RCV001002825 RCV001074177 RCV001257846 RCV001808326 RCV003387758 RCV005025163 RCV005417464 RCV004732673

NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)

SNV
Germline

Chr1:94021340

Pathogenic/Likely pathogenic; other

Condition: not provided
Retinal dystrophy
Leber congenital amaurosis
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Cone-rod dystrophy 3
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227253

rs_61751404

21 SubmittersRCV000085683 RCV000210311 RCV000505114 RCV000408519 RCV000787504 RCV002505017 RCV004760372 RCV004732674

NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)

SNV
Germline

Chr1:94021339

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Stargardt disease
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227254

rs_61751403

17 SubmittersRCV000085684 RCV000321118 RCV000504816 RCV000787505 RCV003223338 RCV005031587

NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)

SNV
Germline

Chr1:94021332

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Conflicting Classifications

CA227255

rs_61753017

10 SubmittersRCV000085685 RCV000787506 RCV000986355 RCV001075879 RCV005025164

NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)

SNV
Germline

Chr1:94019722

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA227268

rs_61753019

9 SubmittersRCV000085694 RCV001073381 RCV000986353 RCV001099771 RCV005025165

NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)

SNV
Germline

Chr1:94019691

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227272

rs_61750564

5 SubmittersRCV000085697 RCV000408469 RCV002490743 RCV004815120

NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)

SNV
Germline

Chr1:94103071

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Conflicting Classifications

CA227276

rs_61748532

13 SubmittersRCV000085700 RCV001073775 RCV001196794 RCV001353027 RCV001449733 RCV005364981 RCV005031588

NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro)

SNV
Germline

Chr1:94019592

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227279

rs_61750567

5 SubmittersRCV000085703 RCV001074107 RCV004689457 RCV005031589

NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)

SNV
Germline

Chr1:94014687

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227298

rs_61750571

8 SubmittersRCV000085721 RCV000787509 RCV001074187 RCV001352958 RCV001723668 RCV004529892

NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)

SNV
Germline

Chr1:94014622

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227304

rs_61751406

11 SubmittersRCV000085725 RCV000504739 RCV000677343 RCV004767070

NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)

SNV
Germline

Chr1:94014590

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227306

rs_61753029

10 SubmittersRCV000085727 RCV001074166 RCV001199290 RCV001352967 RCV004767071

NM_000350.3(ABCA4):c.5460+1G>A

SNV
Germline

Chr1:94014542

Pathogenic

Condition: not provided
Retinitis pigmentosa
Stargardt disease
Autosomal recessive retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227308

rs_61753030

6 SubmittersRCV000085729 RCV000791319 RCV001002813 RCV001257848 RCV004815123

NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr)

SNV
Germline

Chr1:94011309

Pathogenic/Likely pathogenic

Condition: not provided
Cone-rod dystrophy 3
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227317

rs_61750575

5 SubmittersRCV000085737 RCV003152681 RCV004689603 RCV005025166

NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)

SNV
Germline

Chr1:94010911

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Stargardt disease
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa
Retinal dystrophy
ABCA4-related retinopathy

Criteria Provided
Conflicting Classifications

CA202869

rs_1801466

19 SubmittersRCV000085744 RCV000178424 RCV000293913 RCV000309306 RCV000391356 RCV000348932 RCV000721173 RCV001097975 RCV001002812 RCV001197336 RCV001262623 RCV001723669 RCV004815126 RCV005357537

NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)

SNV
Germline

Chr1:94010821

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Inborn genetic diseases
Stargardt disease
Retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa
Age related macular degeneration 2
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA227333

rs_1800552

19 SubmittersRCV000085752 RCV000408593 RCV000623966 RCV000787513 RCV001075015 RCV000778998 RCV000787764 RCV001196150 RCV002470766

NM_000350.3(ABCA4):c.5714+5G>A

SNV
Germline

Chr1:94010795

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Stargardt disease
Cone-rod dystrophy
Stargardt disease
ABCA4-related disorder
Retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Optic atrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA227338

rs_61751407

33 SubmittersRCV000085757 RCV000210303 RCV000210321 RCV000332324 RCV000515694 RCV000845081 RCV000778997 RCV001074898 RCV001196124 RCV002498458 RCV004815127 RCV005357538

NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)

SNV
Germline

Chr1:94008290

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Macular degeneration
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
ABCA4-related disorder
Age related macular degeneration 2
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA285822

rs_56142141

9 SubmittersRCV000085768 RCV000211880 RCV000284620 RCV000339604 RCV000375640 RCV000379050 RCV001096228 RCV001195781 RCV003888479 RCV004562249

NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)

SNV
Germline

Chr1:94007710

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Stargardt disease
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227357

rs_61750639

11 SubmittersRCV000085778 RCV001002809 RCV001075771 RCV005055577 RCV005234984

NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)

SNV
Germline

Chr1:94005499

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Vitreoretinopathy
Macular dystrophy
Progressive cone dystrophy (without rod involvement)
Retinal dystrophy
Age related macular degeneration 2
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227366

rs_61750641

18 SubmittersRCV000085787 RCV000178545 RCV000763436 RCV000787516 RCV000787517 RCV000787766 RCV001074874 RCV001197157 RCV004529893

NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)

SNV
Germline

Chr1:94005470

Pathogenic

Condition: not provided
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227369

rs_61753038

10 SubmittersRCV000085790 RCV000787772 RCV000763435 RCV001073783 RCV002283455 RCV004732675

NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)

SNV
Germline

Chr1:94001961

Pathogenic

Condition: not provided
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227373

rs_61753039

3 SubmittersRCV000085792 RCV002490744

NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)

SNV
Germline

Chr1:94098944

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA227374

rs_61748536

10 SubmittersRCV000085793 RCV000391995 RCV000986375 RCV001074695 RCV001098370 RCV005357539

NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)

SNV
Germline

Chr1:94001911

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Stargardt disease
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA227380

rs_61750645

14 SubmittersRCV000085797 RCV000504630 RCV000787519 RCV001004998 RCV001770079 RCV005357540

NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)

SNV
Germline

Chr1:94001072

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Stargardt disease
ABCA4-related retinopathy
Age related macular degeneration 2
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227388

rs_61750648

12 SubmittersRCV000085806 RCV000408484 RCV001075529 RCV004017397 RCV005357541 RCV004783742 RCV005417958

NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)

SNV
Germline

Chr1:94001068

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Macular dystrophy
Retinal dystrophy
ABCA4-related disorder
Stargardt disease
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Optic atrophy
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

CA227389

rs_62642564

22 SubmittersRCV000085807 RCV000408534 RCV000505080 RCV001074412 RCV004528786 RCV004017398 RCV005025167 RCV004815130 RCV005252116

NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)

SNV
Germline

Chr1:94001046

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227396

rs_61748520

9 SubmittersRCV000085811 RCV000318700 RCV001073884 RCV002490746 RCV004529894

NM_000350.3(ABCA4):c.635G>A (p.Arg212His)

SNV
Germline

Chr1:94098927

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Macular degeneration
ABCA4-related disorder
not specified
Retinitis Pigmentosa, Recessive
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA203214

rs_6657239

11 SubmittersRCV000085814 RCV000369853 RCV000315191 RCV000369400 RCV001098368 RCV000179292 RCV000269487 RCV003888483

NM_000350.3(ABCA4):c.6386+2C>G

SNV
Germline

Chr1:94001000

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227400

rs_61753043

8 SubmittersRCV000085816 RCV000408502 RCV003225930 RCV004815132

NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)

SNV
Germline

Chr1:94000924

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227401

rs_61750652

5 SubmittersRCV000085817 RCV001074273 RCV004526616 RCV005031590

NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp)

SNV
Germline

Chr1:94000900

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227402

rs_61750653

6 SubmittersRCV000085818 RCV004815133 RCV004732676 RCV005222752 RCV005237531

NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)

SNV
Germline

Chr1:94000870

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Macular degeneration
Blindness
Visual loss
Retinitis pigmentosa 19
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227404

rs_61750654

13 SubmittersRCV000085820 RCV000132593 RCV000505094 RCV000414922 RCV004720238 RCV004724804

NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)

SNV
Germline

Chr1:93998027

Pathogenic

Condition: not provided
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227415

rs_61750658

4 SubmittersRCV000085829 RCV001002806 RCV005025168

NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)

SNV
Germline

Chr1:94098904

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227420

rs_61748538

8 SubmittersRCV000085832 RCV000504919 RCV002470767 RCV002498460

NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)

SNV
Germline

Chr1:93997932

Pathogenic/Likely pathogenic

Condition: not provided
Cone dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227425

rs_61753046

14 SubmittersRCV000085837 RCV000504742 RCV000408450 RCV001352970 RCV004529895 RCV004794359

NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro)

SNV
Germline

Chr1:93997904

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227432

rs_61750659

5 SubmittersRCV000085842 RCV001075761 RCV004562252 RCV005417959

NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys)

SNV
Germline

Chr1:94113063

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227447

rs_62645942

3 SubmittersRCV000085858 RCV005031591

NM_000350.3(ABCA4):c.71G>A (p.Arg24His)

SNV
Germline

Chr1:94113062

Pathogenic/Likely pathogenic

Condition: not provided
ABCA4-related disorder
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA227449

rs_62645958

11 SubmittersRCV000085859 RCV000779009 RCV001074842 RCV005234985 RCV004796010 RCV005252754

NM_000350.3(ABCA4):c.768G>T (p.Val256=)

SNV
Germline

Chr1:94098794

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Macular dystrophy
Retinitis pigmentosa
Retinal dystrophy
Cone-rod dystrophy 3
Stargardt disease
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227458

rs_62645944

18 SubmittersRCV000085866 RCV000408540 RCV000678516 RCV000763049 RCV000787525 RCV000787526 RCV001074394 RCV003224863 RCV003993802 RCV004529896

NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)

SNV
Germline

Chr1:94080651

Pathogenic/Likely pathogenic

Condition: not provided
Macular dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227468

rs_61748545

6 SubmittersRCV000085874 RCV000504769 RCV001075838 RCV005025170

NM_000350.3(ABCA4):c.983A>T (p.Glu328Val)

SNV
Germline

Chr1:94080594

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227477

rs_61751419

3 SubmittersRCV000085879 RCV004796011

NM_000554.6(CRX):c.253-15G>A

SNV
Germline

Chr19:47839305

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

CA227619

rs_145805694

7 SubmittersRCV000085996 RCV000335244 RCV000374438 RCV000282603 RCV001512740

NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)

SNV
Germline

Chr19:47839492

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa
Leber congenital amaurosis 1
Leber congenital amaurosis 7
Cone-rod dystrophy 2
CRX-related disorder
Autosomal dominant retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227624

rs_61748442

13 SubmittersRCV000086001 RCV001131569 RCV001131568 RCV000787829 RCV000990235 RCV001089193 RCV004755770 RCV001257854 RCV004815140

NM_000554.6(CRX):c.549G>A (p.Gly183=)

SNV
Germline

Chr19:47839616

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

CA227634

rs_61748451

4 SubmittersRCV000086010 RCV001132601 RCV001132602 RCV001132603 RCV001474134

NM_000554.6(CRX):c.597C>T (p.Ser199=)

SNV
Germline

Chr19:47839664

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Leber congenital amaurosis 7
CRX-related disorder

Criteria Provided
Conflicting Classifications

CA227639

rs_61748455

4 SubmittersRCV000086014 RCV000368298 RCV000277021 RCV000311321 RCV001080501 RCV003905083

NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)

SNV
Germline

Chr6:35500010

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA227705

rs_62636511

7 SubmittersRCV000086069 RCV001542663 RCV004689604 RCV004794360 RCV005031592

NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)

SNV
Germline

Chr6:35499990

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 15
not specified
TULP1-related disorder

Criteria Provided
Conflicting Classifications

CA227706

rs_141980901

9 SubmittersRCV000086070 RCV001156199 RCV001156200 RCV000591717 RCV004734646

NM_003322.6(TULP1):c.1495+1G>A

SNV
Germline

Chr6:35499980

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 15
Retinal dystrophy
Retinitis pigmentosa 14
Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis 15
Retinitis pigmentosa 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227708

rs_281865168

9 SubmittersRCV000086071 RCV000454167 RCV001075035 RCV000454250 RCV001257785 RCV005031593

NM_003322.6(TULP1):c.1496-6C>A

SNV
Germline

Chr6:35498466

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 15
Retinitis pigmentosa 14
Retinal dystrophy
Retinitis pigmentosa 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA227709

rs_281865171

11 SubmittersRCV000086072 RCV000787923 RCV002483168 RCV001073440 RCV001376339 RCV002228330

NM_003322.6(TULP1):c.99+1G>A

SNV
Germline

Chr6:35512638

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA227719

rs_281865166

5 SubmittersRCV000086081 RCV001376338 RCV001255922

NM_004183.4(BEST1):c.240C>A (p.Phe80Leu)

SNV
Germline

Chr11:61955194

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Vitelliform macular dystrophy 2
Autosomal dominant vitreoretinochoroidopathy
Autosomal recessive bestrophinopathy
Retinitis pigmentosa 50
BEST1-related disorder
Vitelliform macular dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227745

rs_281865221

6 SubmittersRCV000086104 RCV001073510 RCV005049420 RCV004529902 RCV005252756

NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)

SNV
Germline

Chr11:61956964

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive bestrophinopathy
BEST1-related disorder
Retinitis pigmentosa 50
Autosomal recessive bestrophinopathy
Vitelliform macular dystrophy 2
Autosomal dominant vitreoretinochoroidopathy
Vitelliform macular dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA199155

rs_199529046

10 SubmittersRCV000086141 RCV000169651 RCV000312619 RCV005359025 RCV001376213

NM_004183.4(BEST1):c.637-6C>T

SNV
Germline

Chr11:61957381

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant vitreoretinochoroidopathy
Vitelliform macular dystrophy 2
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227791

rs_62639356

8 SubmittersRCV000086147 RCV000320452 RCV000265298 RCV000378739 RCV004815150

NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)

SNV
Germline

Chr11:61957402

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 50
Autosomal recessive bestrophinopathy
Vitelliform macular dystrophy 2
Autosomal dominant vitreoretinochoroidopathy
Retinal dystrophy
Vitelliform macular dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227795

rs_281865238

9 SubmittersRCV000086150 RCV000763263 RCV001073491 RCV000787543

NM_014336.5(AIPL1):c.234C>T (p.Ser78=)

SNV
Germline

Chr17:6433961

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 4
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA227868

rs_62635774

4 SubmittersRCV000086214 RCV001078533 RCV001125502 RCV000363858

NM_014336.5(AIPL1):c.765T>C (p.Asp255=)

SNV
Germline

Chr17:6426634

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis Pigmentosa, Recessive
Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA227893

rs_62637018

3 SubmittersRCV000086232 RCV000263430 RCV000353479 RCV001085755

NM_014336.5(AIPL1):c.97-9G>A

SNV
Germline

Chr17:6434107

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis Pigmentosa, Dominant
Retinitis Pigmentosa, Recessive
not specified
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA227901

rs_140124986

6 SubmittersRCV000086237 RCV000360989 RCV000303893 RCV001699204 RCV001080115

NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)

SNV
Germline

Chr12:88083077

Pathogenic/Likely pathogenic

Condition: not provided
CEP290-related disorder
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Senior-Loken syndrome 6
Retinitis pigmentosa
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
CEP290-related ciliopathy
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227975

rs_62638179

10 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014 RCV004593991 RCV005008009

NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)

SNV
Germline

Chr1:197356990

Pathogenic/Likely pathogenic

Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227987

rs_62645754

8 SubmittersRCV000086304 RCV002498468 RCV001857423 RCV001002989 RCV001250593 RCV003453010 RCV003453011 RCV004815175

NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter)

SNV
Germline

Chr1:197421036

Pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA227988

rs_62645746

3 SubmittersRCV000086305 RCV003474690 RCV003764799

NM_201253.3(CRB1):c.1428C>T (p.Thr476=)

SNV
Germline

Chr1:197421256

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227991

rs_62636282

5 SubmittersRCV000086307 RCV000310950 RCV000274599 RCV001080606 RCV000370258 RCV003888496

NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)

SNV
Germline

Chr1:197421266

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA227993

rs_62636264

9 SubmittersRCV000086308 RCV001376374 RCV001826777 RCV000797320 RCV003453013 RCV005008010 RCV003235040 RCV003453012

NM_201253.3(CRB1):c.1647T>C (p.Asn549=)

SNV
Germline

Chr1:197421475

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA227996

rs_62636283

5 SubmittersRCV000086310 RCV000324209 RCV000283110 RCV000378808 RCV001084432

NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)

SNV
Germline

Chr1:197421870

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA228000

rs_62636266

9 SubmittersRCV000086312 RCV001046839 RCV004815176 RCV001831900 RCV003453015 RCV003453016

NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln)

SNV
Germline

Chr1:197421956

Pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA228001

rs_62645755

3 SubmittersRCV000086313 RCV001250598 RCV003764800

NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)

SNV
Germline

Chr1:197427547

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA228002

rs_62636267

5 SubmittersRCV000086314 RCV001250657 RCV001380408 RCV003453017

NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)

SNV
Germline

Chr1:197427880

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA228013

rs_62636271

6 SubmittersRCV000086323 RCV000529725 RCV001250658 RCV001002996 RCV004815177

NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)

SNV
Germline

Chr1:197429453

Conflicting classifications of pathogenicity

Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Optic atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis
CRB1-related disorder
Hereditary macular dystrophy

Criteria Provided
Conflicting Classifications

CA228017

rs_62636290

9 SubmittersRCV000086327 RCV000763788 RCV001239396 RCV001526761 RCV004815178 RCV001563888 RCV001826778 RCV004529904 RCV005359026

NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)

SNV
Germline

Chr1:197429460

Pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Macular dystrophy
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinitis pigmentosa 12
Retinitis pigmentosa
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA203679

rs_62636273

15 SubmittersRCV000086328 RCV000542027 RCV000505142 RCV001250608 RCV001275654 RCV001376474 RCV001723672 RCV001074017 RCV003453019 RCV005008011

NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)

SNV
Germline

Chr1:197435162

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA228035

rs_62635659

5 SubmittersRCV000086339 RCV001857424 RCV002247492 RCV003453026 RCV003453027

NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)

SNV
Germline

Chr1:197435183

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA228036

rs_62636276

7 SubmittersRCV000086342 RCV001378740 RCV001075774 RCV001250617 RCV003453029 RCV005008012 RCV003453028

NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg)

SNV
Germline

Chr1:197435183

Pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA228037

rs_62636276

3 SubmittersRCV000086343 RCV001250629 RCV002514529

NM_201253.3(CRB1):c.3331G>T (p.Glu1111Ter)

SNV
Germline

Chr1:197435194

Pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA228038

rs_62636277

2 SubmittersRCV000086344 RCV002514530

NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter)

SNV
Germline

Chr1:197442166

Pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA228044

rs_281865174

5 SubmittersRCV000086348 RCV001857425 RCV001250619 RCV004794361

NM_201253.3(CRB1):c.430T>G (p.Phe144Val)

SNV
Germline

Chr1:197328781

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA228050

rs_62636262

4 SubmittersRCV000086355 RCV001826780 RCV001242505 RCV001588920

NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)

SNV
Germline

Chr1:197328965

Conflicting classifications of pathogenicity

Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Intellectual disability
Leber congenital amaurosis
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Leber congenital amaurosis 1

Criteria Provided
Conflicting Classifications

CA228054

rs_62645749

10 SubmittersRCV000086360 RCV000288080 RCV001251962 RCV001271893 RCV000787825 RCV001080600 RCV000382919 RCV000986485

NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val)

SNV
Germline

Chr5:149896430

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

CA228873

rs_61733362

5 SubmittersRCV000086933 RCV001157994 RCV001002090

NM_000440.3(PDE6A):c.879G>A (p.Pro293=)

SNV
Germline

Chr5:149921689

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA228875

rs_137853899

3 SubmittersRCV000086934 RCV000264899

NM_006343.3(MERTK):c.878G>A (p.Arg293His)

SNV
Germline

Chr2:111968170

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA228917

rs_34072093

5 SubmittersRCV000086965 RCV001131835 RCV003888502

NM_144596.4(TTC8):c.625-5C>T

SNV
Germline

Chr14:88852966

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa
Bardet-Biedl syndrome
Bardet-Biedl syndrome 8

Criteria Provided
Conflicting Classifications

CA331786

rs_137853922

10 SubmittersRCV000087004 RCV000253567 RCV000787922 RCV001079560 RCV001121196

NM_201253.3(CRB1):c.99G>T (p.Arg33Ser)

SNV
Germline

Chr1:197328450

Conflicting classifications of pathogenicity

Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA228954

rs_59691602

4 SubmittersRCV000087005 RCV000346080 RCV000309890 RCV000391581 RCV001082725

NM_206933.4(USH2A):c.14792-2A>G

SNV
Germline

Chr1:215640736

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA228956

rs_137853923

10 SubmittersRCV000087007 RCV001376202 RCV002469009 RCV003445508 RCV001074825 RCV005008014

NM_003611.3(OFD1):c.935+706A>G

SNV
Germline

ChrX:13750239

Pathogenic

Retinitis pigmentosa 23

No Assertion Criteria Provided

CA213088

rs_730880283

1 SubmittersRCV000087736

NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)

SNV
Germline

Chr4:15502879

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Condition: not provided
Retinal dystrophy
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA150875

rs_377177061

8 SubmittersRCV000114178 RCV000596321 RCV001074483 RCV001056175 RCV003317090 RCV004698824 RCV005025174

NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)

SNV
Germline

Chr4:15596154

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Condition: not provided
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA150879

rs_368720062

3 SubmittersRCV000114180 RCV002284363 RCV005031597

NM_020949.3(SLC7A14):c.2122T>G (p.Phe708Val)

SNV
Germline

Chr3:170467249

Pathogenic

Retinitis pigmentosa 68

No Assertion Criteria Provided

CA151151

rs_587777272

1 SubmittersRCV000114375

NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe)

SNV
Germline

Chr3:170480891

Conflicting classifications of pathogenicity

Retinitis pigmentosa 68
Condition: not provided
SLC7A14-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA151152

rs_79668755

7 SubmittersRCV000114376 RCV000902663 RCV003925105 RCV003888509

NM_020949.3(SLC7A14):c.395C>T (p.Ala132Val)

SNV
Germline

Chr3:170501255

Pathogenic

Retinitis pigmentosa 68

No Assertion Criteria Provided

CA151153

rs_587777273

1 SubmittersRCV000114377

NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)

SNV
Germline

Chr20:21136463

Pathogenic

Retinitis pigmentosa 69
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
KIZ-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA151548

rs_202210819

11 SubmittersRCV000116208 RCV000760516 RCV001003070 RCV001073648 RCV003390800

NM_018474.6(KIZ):c.52G>T (p.Glu18Ter)

SNV
Germline

Chr20:21126167

Pathogenic/Likely pathogenic

Retinitis pigmentosa 69
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA151550

rs_587777376

3 SubmittersRCV000116209 RCV001854564

NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)

SNV
Germline

Chr1:216200031

Pathogenic

Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Cone-rod dystrophy
Usher syndrome
Condition: not provided

Reviewed By Expert Panel

CA269917

rs_483353055

7 SubmittersRCV000119824 RCV000675179 RCV000787729 RCV001089677 RCV001231408

NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter)

SNV
Germline

Chr1:215900194

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA269919

rs_483353056

3 SubmittersRCV000119825 RCV000444053 RCV003453052

NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)

SNV
Germline

Chr1:94042804

Conflicting classifications of pathogenicity

not specified
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Macular degeneration
Condition: not provided
Stargardt Disease, Recessive
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA289216

rs_570745701

5 SubmittersRCV000123437 RCV000291533 RCV000332468 RCV000382403 RCV001494980 RCV000277374 RCV001075760 RCV001098162

NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)

SNV
Germline

Chr1:94037199

Conflicting classifications of pathogenicity

not specified
Cone-Rod Dystrophy, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Condition: not provided
ABCA4-related disorder
Stargardt Disease, Recessive

Criteria Provided
Conflicting Classifications

CA289219

rs_147884766

6 SubmittersRCV000123439 RCV000310721 RCV000266131 RCV000365294 RCV000726042 RCV001101850 RCV000406941

NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)

SNV
Germline

Chr6:64307042

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA202471

rs_201580493

10 SubmittersRCV000177451 RCV000882506 RCV001003019 RCV001292621 RCV004815193

NM_000440.3(PDE6A):c.1086G>A (p.Ala362=)

SNV
Germline

Chr5:149903675

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa 43
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA292705

rs_142259966

6 SubmittersRCV000127384 RCV000345398 RCV001001850 RCV001152527

NM_000283.4(PDE6B):c.711+10C>T

SNV
Germline

Chr4:635979

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292713

rs_201100689

4 SubmittersRCV000127389 RCV000395859 RCV000313689 RCV000971875

NM_001244926.2(PRPF4):c.941C>T (p.Pro314Leu)

SNV
Germline

Chr9:113288183

Likely pathogenic

Retinitis pigmentosa 70
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA170079

rs_587777599

3 SubmittersRCV000132564 RCV001268585 RCV004815198

NM_000260.4(MYO7A):c.1667G>T (p.Gly556Val)

SNV
Unknown

Chr11:77162965

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA270005

rs_527236085

1 SubmittersRCV000132570

NM_000283.4(PDE6B):c.1467+1G>C

SNV
Unknown

Chr4:659018

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA270007

rs_527236089

1 SubmittersRCV000132573

NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys)

SNV
Germline

Chr4:660575

Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA270008

rs_527236091

4 SubmittersRCV000132574 RCV001857472 RCV003888537

NM_000283.4(PDE6B):c.1604T>A (p.Ile535Asn)

SNV
Germline

Chr4:660603

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 40
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA270010

rs_527236088

4 SubmittersRCV000132575 RCV001857473 RCV002250571 RCV003888538

NM_000283.4(PDE6B):c.993-1G>C

SNV
Germline

Chr4:655939

Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Single Submitter

CA270012

rs_527236090

2 SubmittersRCV000132577 RCV003888539

NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp)

SNV
Germline

Chr6:42721925

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
PRPH2-related disorder
Condition: not provided
Retinitis pigmentosa 7

Criteria Provided
Multiple Submitters
No Conflicts

CA270013

rs_527236097

5 SubmittersRCV000132578 RCV001074625 RCV001388979 RCV001530286 RCV005252764

NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)

SNV
Germline

Chr6:42721836

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
PRPH2-related disorder
Retinal dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA270015

rs_527236098

11 SubmittersRCV000132579 RCV000438661 RCV001055454 RCV001073378 RCV001250331

NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)

SNV
Germline

Chr1:94005469

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA232815

rs_148460146

13 SubmittersRCV000132592 RCV000986347 RCV001073482 RCV001542554 RCV004732701 RCV004796034

NM_000539.3(RHO):c.180C>A (p.Tyr60Ter)

SNV
Germline

Chr3:129528913

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA270021

rs_527236101

4 SubmittersRCV000132596 RCV001007975 RCV004815199 RCV001265175

NM_000539.3(RHO):c.520G>A (p.Gly174Ser)

SNV
Germline

Chr3:129531034

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA270023

rs_527236103

4 SubmittersRCV000132599 RCV003888543 RCV003556175

NM_000539.3(RHO):c.562G>A (p.Gly188Arg)

SNV
Germline

Chr3:129532282

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA270025

rs_527236100

4 SubmittersRCV000132600 RCV001384606 RCV003888544

NM_000541.5(SAG):c.250C>T (p.Arg84Cys)

SNV
Germline

Chr2:233320698

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Oguchi disease
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA232819

rs_115857633

5 SubmittersRCV000365394 RCV000132603 RCV001137319 RCV001137320 RCV003888546

NM_000554.6(CRX):c.193G>C (p.Asp65His)

SNV
Germline

Chr19:47836335

Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Single Submitter

CA270027

rs_527236062

2 SubmittersRCV000132604 RCV003888547

NM_000554.6(CRX):c.897G>C (p.Leu299Phe)

SNV
Germline

Chr19:47839964

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA270029

rs_527236063

3 SubmittersRCV000132605 RCV005222764 RCV003888548

NM_001034853.2(RPGR):c.1981G>T (p.Glu661Ter)

SNV
Unknown

ChrX:38287018

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA270034

rs_527236108

1 SubmittersRCV000132609

NM_001034853.2(RPGR):c.922G>C (p.Ala308Pro)

SNV
Germline

ChrX:38304647

Likely pathogenic

Retinitis pigmentosa
RPGR-related retinopathy

Reviewed By Expert Panel

CA270037

rs_527236112

2 SubmittersRCV000132614 RCV005415415

NM_001077620.3(PRCD):c.2T>C (p.Met1Thr)

SNV
Germline

Chr17:76540143

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 36
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA270040

rs_527236092

5 SubmittersRCV000132616 RCV000678599 RCV001060810 RCV003888552

NM_001379270.1(CNGA1):c.977A>G (p.Asp326Gly)

SNV
Unknown

Chr4:47937505

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA270044

rs_527236059

1 SubmittersRCV000132618

NM_001142800.2(EYS):c.1345A>T (p.Lys449Ter)

SNV
Unknown

Chr6:65353572

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA270049

rs_527236077

1 SubmittersRCV000132621

NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter)

SNV
Germline

Chr6:65334996

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA270051

rs_527236072

4 SubmittersRCV000132622 RCV001849952 RCV003462050

NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys)

SNV
Germline

Chr6:64626200

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25
EYS-related disorder

Criteria Provided
Conflicting Classifications

CA232827

rs_150951106

6 SubmittersRCV001159868 RCV000132623 RCV003888553 RCV000666256 RCV003905240

NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter)

SNV
Unknown

Chr6:64590853

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA270056

rs_527236074

1 SubmittersRCV000132627

NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu)

SNV
Germline

Chr6:64081870

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA270059

rs_527236068

8 SubmittersRCV000132629 RCV001062126 RCV001075666 RCV001826794

NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter)

SNV
Germline

Chr6:63762613

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA270065

rs_527236066

8 SubmittersRCV000132633 RCV000678571 RCV001059640 RCV001074415

NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)

SNV
Germline

Chr6:63762520

Pathogenic/Likely pathogenic

Retinitis pigmentosa
EYS-related disorder
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA270067

rs_527236076

8 SubmittersRCV000132634 RCV003905241 RCV001212734 RCV001826795 RCV003888557

NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)

SNV
Germline

Chr6:63721226

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25
EYS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA270070

rs_527236067

12 SubmittersRCV000132636 RCV000803751 RCV001074003 RCV001808400 RCV004751283

NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr)

SNV
Germline

Chr6:63720822

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA270072

rs_183589498

5 SubmittersRCV000132637 RCV000938878 RCV003888558 RCV003330509

NM_001242957.3(MAK):c.553G>A (p.Ala185Thr)

SNV
Germline

Chr6:10803830

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA270078

rs_527236080

4 SubmittersRCV000132645 RCV001315049 RCV005237577 RCV003888560

NM_001297.5(CNGB1):c.217+5G>C

SNV
Germline

Chr16:57964482

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA270081

rs_527236060

5 SubmittersRCV000132646 RCV001207756 RCV002250572

NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)

SNV
Germline

Chr6:35511648

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 14
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Conflicting Classifications

CA270083

rs_527236117

5 SubmittersRCV000132650 RCV001378479 RCV001376329 RCV005031648

NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)

SNV
Germline

Chr11:61958194

Pathogenic

Retinitis pigmentosa
Condition: not provided
Autosomal recessive bestrophinopathy
Retinitis pigmentosa 50
Autosomal recessive bestrophinopathy
Vitelliform macular dystrophy 2
Autosomal dominant vitreoretinochoroidopathy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA270085

rs_372989281

5 SubmittersRCV000132651 RCV001781480 RCV005252765 RCV002478405 RCV003888561

NM_004744.5(LRAT):c.163C>T (p.Arg55Trp)

SNV
Germline

Chr4:154744489

Pathogenic

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA270087

rs_527236079

3 SubmittersRCV000132653 RCV003556177 RCV005431484

NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)

SNV
Germline

Chr8:54625068

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 1
RP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA270091

rs_201493928

12 SubmittersRCV000132658 RCV001064832 RCV001075254 RCV001376316 RCV004754308

NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter)

SNV
Germline

Chr8:54629679

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified
Retinitis pigmentosa 1
Retinal dystrophy
RP1-related disorder

Criteria Provided
Conflicting Classifications

CA270095

rs_118031911

8 SubmittersRCV000132661 RCV001035254 RCV000825444 RCV002250573 RCV003888563 RCV004754309

NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser)

SNV
Germline

Chr2:111994404

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 38
Condition: not provided

Criteria Provided
Conflicting Classifications

CA270098

rs_527236084

5 SubmittersRCV000132663 RCV000662015 RCV002515922

NM_006343.3(MERTK):c.370C>T (p.Gln124Ter)

SNV
Unknown

Chr2:111929428

Likely pathogenic

Retinitis pigmentosa 38

No Assertion Criteria Provided

CA270101

rs_527236134

1 SubmittersRCV000132665

NM_012469.4(PRPF6):c.550G>C (p.Asp184His)

SNV
Unknown

Chr20:63995027

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA270103

rs_527236096

1 SubmittersRCV000132667

NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys)

SNV
Germline

Chr2:96293481

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy

No Assertion Criteria Provided

CA270105

rs_527236115

2 SubmittersRCV000132668 RCV000225495

NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His)

SNV
Germline

Chr2:96293090

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 33

Criteria Provided
Multiple Submitters
No Conflicts

CA270107

rs_527236113

7 SubmittersRCV000132669 RCV001073690 RCV001206818 RCV001376490

NM_014014.5(SNRNP200):c.2047G>T (p.Val683Leu)

SNV
Unknown

Chr2:96293085

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA270108

rs_527236114

1 SubmittersRCV000132670

NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)

SNV
Germline

Chr15:71811969

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 37
Enhanced S-cone syndrome
Condition: not provided
Retinal dystrophy
Enhanced S-cone syndrome
NR2E3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA270110

rs_527236086

9 SubmittersRCV000132672 RCV000670387 RCV001205439 RCV001075734 RCV001831925 RCV004532584

NM_015629.4(PRPF31):c.562G>T (p.Glu188Ter)

SNV
Unknown

Chr19:54123783

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA270113

rs_527236094

1 SubmittersRCV000132673

NM_015629.4(PRPF31):c.615C>G (p.Tyr205Ter)

SNV
Germline

Chr19:54123836

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA270116

rs_144738703

2 SubmittersRCV000132674 RCV002514758

NM_015629.4(PRPF31):c.764A>T (p.Gln255Leu)

SNV
Unknown

Chr19:54124565

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA270118

rs_527236095

1 SubmittersRCV000132675

NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)

SNV
Germline

Chr3:101231117

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Autosomal recessive retinitis pigmentosa
Vitelliform macular dystrophy 5
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA270121

rs_199867882

14 SubmittersRCV000132676 RCV001074065 RCV000585301 RCV001257827 RCV001270127 RCV005625313

NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)

SNV
Germline

Chr8:86632864

Conflicting classifications of pathogenicity

Condition: not provided
Achromatopsia 3
Achromatopsia
not specified
Abnormality of the eye
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA232853

rs_147876778

16 SubmittersRCV000132679 RCV000174144 RCV000597492 RCV000435881 RCV000501136 RCV000678546 RCV001164460 RCV004815202

NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter)

SNV
Germline

Chr8:10612126

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA270129

rs_527236107

3 SubmittersRCV000132695 RCV001074141

NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)

SNV
Germline

Chr1:197421404

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA170083

rs_114342808

14 SubmittersRCV000132698 RCV000179572 RCV001073589 RCV000792250 RCV005008044 RCV001002990 RCV003453098 RCV003453099

NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)

SNV
Germline

Chr1:215759735

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA270135

rs_527236139

23 SubmittersRCV000132701 RCV000504711 RCV000413588 RCV000665160 RCV000678643 RCV001074730 RCV003226212 RCV004732702

NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)

SNV
Germline

Chr1:215674901

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA270139

rs_527236137

15 SubmittersRCV000132703 RCV000824779 RCV001043740 RCV000983996 RCV001073283 RCV003324517 RCV005016461

NM_206933.4(USH2A):c.13466G>A (p.Gly4489Asp)

SNV
Germline

Chr1:215674445

Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Single Submitter

CA270141

rs_527236127

2 SubmittersRCV000132704 RCV001073355

NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)

SNV
Germline

Chr1:215671258

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA270143

rs_527236124

8 SubmittersRCV000132705 RCV001075191 RCV002514759 RCV004525879 RCV005016462 RCV003453100

NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)

SNV
Germline

Chr1:215650692

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA270145

rs_527236126

7 SubmittersRCV000132706 RCV000144482 RCV000675147 RCV003888572 RCV002514760 RCV003462051

NM_206933.4(USH2A):c.14450G>A (p.Gly4817Glu)

SNV
Unknown

Chr1:215648660

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA270147

rs_527236125

1 SubmittersRCV000132707

NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)

SNV
Germline

Chr1:215634523

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Conflicting Classifications

CA270149

rs_527236122

9 SubmittersRCV000132708 RCV001221094 RCV003888573 RCV000490337 RCV003462052 RCV004767086

NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)

SNV
Germline

Chr1:216246592

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA270152

rs_201527662

25 SubmittersRCV000132710 RCV000576637 RCV000595137 RCV000986542 RCV001074347 RCV001003277 RCV002469023 RCV004796037

NM_206933.4(USH2A):c.490G>T (p.Val164Phe)

SNV
Germline

Chr1:216418675

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA270157

rs_527236123

6 SubmittersRCV000132713 RCV001227152 RCV001075672 RCV003453101

NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter)

SNV
Germline

Chr1:216000489

Pathogenic

Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA270159

rs_55958016

4 SubmittersRCV000132714 RCV003888574 RCV003462053 RCV003556178

NM_206933.4(USH2A):c.9751T>C (p.Cys3251Arg)

SNV
Germline

Chr1:215799114

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA270162

rs_527236118

2 SubmittersRCV000132717 RCV003237744

NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)

SNV
Germline

Chr6:135433119

Pathogenic/Likely pathogenic

Joubert syndrome 3
Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA270780

rs_587783013

10 SubmittersRCV000144464 RCV000678521 RCV001698972 RCV001262092 RCV003495112

NM_201253.3(CRB1):c.998G>A (p.Gly333Asp)

SNV
Germline

Chr1:197356840

Pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA170860

rs_587783015

2 SubmittersRCV000144466 RCV003764878

NM_182916.3(TRNT1):c.1057-7C>G

SNV
Germline

Chr3:3147899

Conflicting classifications of pathogenicity

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Condition: not provided
Retinitis pigmentosa and erythrocytic microcytosis
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
TRNT1-related disorder

Criteria Provided
Conflicting Classifications

CA249572

rs_368078167

6 SubmittersRCV000144948 RCV000497594 RCV001249657 RCV003155084

NM_016026.4(RDH11):c.199C>T (p.Arg67Ter)

SNV
Germline

Chr14:67692588

Pathogenic

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA214520

rs_606231423

3 SubmittersRCV000148296 RCV001320971

NM_016026.4(RDH11):c.322C>T (p.Arg108Ter)

SNV
Germline

Chr14:67692465

Pathogenic

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA214522

rs_606231424

3 SubmittersRCV000148297 RCV001302099

NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)

SNV
Germline

Chr1:46194314

Conflicting classifications of pathogenicity

not specified
Muscle eye brain disease
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA295419

rs_142485035

10 SubmittersRCV000150000 RCV000763935 RCV001083649 RCV000725700 RCV002514874 RCV001333960 RCV004732704

NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)

SNV
Germline

Chr1:46196766

Conflicting classifications of pathogenicity

Muscle eye brain disease
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA295425

rs_375420073

4 SubmittersRCV000763937 RCV000648197 RCV001272275 RCV003129788

NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)

SNV
Germline

Chr1:215674103

Likely pathogenic

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome
Condition: not provided

Reviewed By Expert Panel

CA183350

rs_727504551

5 SubmittersRCV000155713 RCV000671700 RCV001073548 RCV002250425 RCV001850131

NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)

SNV
Germline

Chr1:216084853

Pathogenic

not specified
Retinitis pigmentosa
Condition: not provided
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
USH2A-related disorder

Reviewed By Expert Panel

CA185105

rs_727505116

12 SubmittersRCV000156571 RCV000505112 RCV000725477 RCV001004787 RCV003991016 RCV005008063 RCV003462063 RCV004528894

NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)

SNV
Germline

Chr1:215625809

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA185216

rs_727505155

3 SubmittersRCV000156623 RCV000668542 RCV003311698

NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)

SNV
Germline

Chr1:215640723

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Rare genetic deafness
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273457

rs_146733615

10 SubmittersRCV000411616 RCV000410556 RCV000824777 RCV001054211 RCV001073844 RCV002505168 RCV004544405

NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)

SNV
Germline

Chr1:215650687

Pathogenic

Rare genetic deafness
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA273630

rs_727504867

6 SubmittersRCV000156228 RCV001826849 RCV002515013 RCV005016474 RCV003453191

NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)

SNV
Germline

Chr1:215728281

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA182588

rs_146264950

14 SubmittersRCV000155322 RCV000664687 RCV001274938 RCV001579277 RCV001244553 RCV004815242

NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)

SNV
Germline

Chr1:215779878

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA185250

rs_727505166

5 SubmittersRCV000156642 RCV000763828 RCV002516341 RCV001271141 RCV003888605

NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)

SNV
Germline

Chr1:215799023

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183787

rs_727504654

9 SubmittersRCV000155917 RCV001074861 RCV001273698 RCV001376534 RCV000666703 RCV001227049

NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)

SNV
Germline

Chr1:215838055

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179526

rs_143352618

4 SubmittersRCV000152585 RCV000673073 RCV001244965

NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys)

SNV
Germline

Chr1:215845886

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA179529

rs_559922535

3 SubmittersRCV000152588 RCV001307268 RCV000671038

NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter)

SNV
Germline

Chr1:216000490

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273288

rs_727503725

4 SubmittersRCV000152604 RCV001376394 RCV003453130 RCV003688831

NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)

SNV
Germline

Chr1:216199790

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179572

rs_147947402

6 SubmittersRCV000152620 RCV000288419 RCV000403072 RCV000905750

NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)

SNV
Germline

Chr1:216217405

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA179578

rs_727503735

5 SubmittersRCV000152627 RCV001097183 RCV000918519 RCV001097182 RCV005394520

NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)

SNV
Germline

Chr1:216246884

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA179584

rs_148594393

6 SubmittersRCV000152631 RCV000881023 RCV001100749 RCV001100750

NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)

SNV
Germline

Chr1:216323576

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA183926

rs_201847741

3 SubmittersRCV000155979 RCV000943628 RCV000666822

NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)

SNV
Germline

Chr1:216327618

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
not specified
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA183997

rs_727504721

7 SubmittersRCV000673498 RCV001831971 RCV000156012 RCV001731487 RCV003462061

NM_206933.4(USH2A):c.486-13G>A

SNV
Germline

Chr1:216418692

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179592

rs_116367260

4 SubmittersRCV000152636 RCV001097551 RCV001097552 RCV001520496

NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)

SNV
Germline

Chr1:215675336

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome
USH2A-related disorder
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA179511

rs_199605265

23 SubmittersRCV000152569 RCV000480057 RCV000505125 RCV000675140 RCV001004143 RCV001074420 RCV003226215 RCV004532711 RCV005016470

NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)

SNV
Germline

Chr1:215680168

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA185267

rs_727505170

5 SubmittersRCV001238988 RCV000156650 RCV000666738

NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln)

SNV
Germline

Chr1:215728274

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183417

rs_727504582

3 SubmittersRCV000155755 RCV000671917 RCV004700483

NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)

SNV
Germline

Chr1:215743285

Pathogenic

Rare genetic deafness
Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273676

rs_727505337

4 SubmittersRCV000156887 RCV000787718 RCV003453204 RCV002515040

NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)

SNV
Germline

Chr1:215998954

Conflicting classifications of pathogenicity

not specified
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179546

rs_140487302

11 SubmittersRCV000152602 RCV000504981 RCV000669599 RCV001826815 RCV001240603

NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)

SNV
Germline

Chr1:216190241

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA182604

rs_139311927

8 SubmittersRCV000155330 RCV000765070 RCV001381659 RCV001276257 RCV001376456 RCV003479024 RCV004732718

NM_206933.4(USH2A):c.3801G>A (p.Ala1267=)

SNV
Germline

Chr1:216199637

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179570

rs_537863698

5 SubmittersRCV000152619 RCV000295631 RCV000389900 RCV001075377 RCV001207755

NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)

SNV
Germline

Chr1:216200043

Conflicting classifications of pathogenicity

not specified
Usher syndrome
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA179576

rs_34596189

12 SubmittersRCV000152625 RCV000504687 RCV000894588 RCV001100644 RCV001100645 RCV004544387

NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter)

SNV
Germline

Chr1:216246853

Pathogenic

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA273290

rs_727503736

4 SubmittersRCV000152630 RCV001857523 RCV003474803 RCV003453141

NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)

SNV
Germline

Chr1:216247062

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinal dystrophy
Usher syndrome
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA182608

rs_142898216

9 SubmittersRCV000155332 RCV001051381 RCV001073261 RCV001804867 RCV001810429 RCV005016473

NM_206933.4(USH2A):c.2001C>T (p.His667=)

SNV
Germline

Chr1:216251069

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA182606

rs_142870255

9 SubmittersRCV000155331 RCV000396635 RCV000925735 RCV000310998

NM_206933.4(USH2A):c.1608C>T (p.Cys536=)

SNV
Germline

Chr1:216321919

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA179586

rs_187380128

6 SubmittersRCV000152632 RCV000941463 RCV001097357 RCV001101111 RCV003888580

NM_206933.4(USH2A):c.1530C>T (p.Asp510=)

SNV
Germline

Chr1:216323494

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA183450

rs_200940197

7 SubmittersRCV000155770 RCV000336096 RCV000827304 RCV000388226

NM_206933.4(USH2A):c.632G>A (p.Trp211Ter)

SNV
Germline

Chr1:216418533

Pathogenic

Rare genetic deafness
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA273632

rs_727504893

3 SubmittersRCV000156272 RCV003479025 RCV003462062

NM_206933.4(USH2A):c.485+12T>C

SNV
Germline

Chr1:216421840

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179593

rs_201857884

5 SubmittersRCV000152638 RCV000349749 RCV000383355 RCV001073743 RCV001520246

NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)

SNV
Germline

Chr5:90629537

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Retinitis pigmentosa
ADGRV1-related disorder
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA176188

rs_199587998

12 SubmittersRCV000150755 RCV000725188 RCV001152888 RCV001589003 RCV004551304 RCV005359319

NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)

SNV
Germline

Chr11:77199817

Conflicting classifications of pathogenicity

not specified
Nonsyndromic Hearing Loss, Dominant
Retinitis pigmentosa-deafness syndrome
Usher syndrome type 1B
Condition: not provided
Hearing loss, autosomal recessive

Criteria Provided
Conflicting Classifications

CA182424

rs_372535399

5 SubmittersRCV000155236 RCV000357884 RCV000323066 RCV001272800 RCV000733015 RCV004577727

NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)

SNV
Germline

Chr2:61839871

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 28
Retinitis pigmentosa
not specified
FAM161A-related disorder

Criteria Provided
Conflicting Classifications

CA233981

rs_187695569

12 SubmittersRCV000153227 RCV000765693 RCV001138008 RCV001844052 RCV003907444

NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)

SNV
Germline

Chr6:64388743

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA180012

rs_559078881

5 SubmittersRCV000153209 RCV000260927 RCV000895790 RCV004019833

NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)

SNV
Germline

Chr8:43170661

Conflicting classifications of pathogenicity

not specified
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA180114

rs_727503962

6 SubmittersRCV000153362 RCV000670920 RCV001243388 RCV001815238

NM_201253.3(CRB1):c.2291G>A (p.Arg764His)

SNV
Germline

Chr1:197427616

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA233861

rs_375040930

8 SubmittersRCV000153110 RCV001235069 RCV001250605 RCV001831949 RCV002247550 RCV004796048

NM_000541.5(SAG):c.301G>A (p.Ala101Thr)

SNV
Germline

Chr2:233320749

Conflicting classifications of pathogenicity

not specified
Oguchi disease
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA180410

rs_141521563

8 SubmittersRCV000153881 RCV000299646 RCV000394806 RCV000425708 RCV004815234

NM_001201543.2(FAM161A):c.2122G>A (p.Glu708Lys)

SNV
Germline

Chr2:61826484

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA180030

rs_77562614

3 SubmittersRCV000153223 RCV000955288 RCV001140149

NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn)

SNV
Germline

Chr6:64590393

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA233962

rs_182151153

7 SubmittersRCV000153211 RCV000382484 RCV001073752 RCV001274970 RCV005338088

NM_201548.5(CERKL):c.589G>T (p.Ala197Ser)

SNV
Germline

Chr2:181573777

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

CA233690

rs_151110889

5 SubmittersRCV000152989 RCV001142998 RCV001279813

NM_144631.6(ZNF513):c.781G>A (p.Val261Met)

SNV
Germline

Chr2:27378485

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 58

Criteria Provided
Conflicting Classifications

CA235279

rs_61742428

4 SubmittersRCV000154164 RCV001140115 RCV000765663

NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile)

SNV
Germline

Chr2:61842347

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 28

Criteria Provided
Conflicting Classifications

CA180033

rs_145199539

9 SubmittersRCV000153228 RCV000330220 RCV000954594 RCV001526760

NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn)

SNV
Germline

Chr10:47350324

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 66
Retinitis pigmentosa
Retinitis pigmentosa
Retinitis pigmentosa 66

Criteria Provided
Conflicting Classifications

CA234770

rs_149642039

5 SubmittersRCV000153815 RCV000206960 RCV001105648 RCV005394521

NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)

SNV
Germline

Chr16:57901371

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 45
CNGB1-related disorder
CNGB1-related retinopathy

Criteria Provided
Conflicting Classifications

CA233760

rs_201162411

23 SubmittersRCV000153040 RCV000504912 RCV001073599 RCV001257781 RCV001331891 RCV003907442 RCV005359325

NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr)

SNV
Germline

Chr1:197435029

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA233863

rs_727503889

4 SubmittersRCV000153112 RCV001526715 RCV001850090

NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln)

SNV
Germline

Chr1:46192147

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinal dystrophy
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA234712

rs_573518562

6 SubmittersRCV000153761 RCV000622475 RCV002516093 RCV002516092 RCV003888594 RCV005025233

NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu)

SNV
Germline

Chr2:181539107

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA233684

rs_146913105

8 SubmittersRCV000152985 RCV000383077 RCV001073870 RCV002516072

NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)

SNV
Germline

Chr2:29071662

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 54
Condition: not provided
Retinitis pigmentosa
PCARE-related disorder

Criteria Provided
Conflicting Classifications

CA233555

rs_182248363

7 SubmittersRCV000152890 RCV000625234 RCV000879053 RCV001136691 RCV003975196

NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)

SNV
Germline

Chr5:149895206

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 43
PDE6A-related disorder

Criteria Provided
Conflicting Classifications

CA234508

rs_139444207

10 SubmittersRCV000153658 RCV000292173 RCV001376415 RCV003416002

NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)

SNV
Germline

Chr6:64590882

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
EYS-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA180014

rs_147641443

11 SubmittersRCV000153212 RCV000584981 RCV000625442 RCV001164682 RCV003965140 RCV003888588

NM_018418.5(SPATA7):c.1033A>G (p.Met345Val)

SNV
Germline

Chr14:88431176

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 3
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA234982

rs_375371982

6 SubmittersRCV000153988 RCV001120978 RCV001049973 RCV003888597

NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)

SNV
Germline

Chr1:94021848

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt Disease, Recessive
Macular degeneration
Cone-Rod Dystrophy, Recessive
Cone dystrophy
Retinal dystrophy
Optic atrophy
ABCA4-related retinopathy

Criteria Provided
Conflicting Classifications

CA233403

rs_113106943

11 SubmittersRCV000285181 RCV000416254 RCV000408525 RCV000323858 RCV000376503 RCV000381856 RCV000504993 RCV001073617 RCV004815221 RCV005359324

NM_001029883.3(PCARE):c.2418C>T (p.Pro806=)

SNV
Germline

Chr2:29071844

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
PCARE-related disorder

Criteria Provided
Conflicting Classifications

CA233557

rs_189042259

4 SubmittersRCV000152891 RCV001136695 RCV003917488

NM_001378615.1(CC2D2A):c.1017+1G>A

SNV
Germline

Chr4:15516005

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
Condition: not provided
CC2D2A-related disorder
Meckel syndrome, type 6
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA210291

rs_200407856

8 SubmittersRCV000198057 RCV000201663 RCV000597652 RCV004732713 RCV005031661

NM_201548.5(CERKL):c.132G>C (p.Glu44Asp)

SNV
Germline

Chr2:181656875

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA233693

rs_727503857

5 SubmittersRCV000415943 RCV001138253

NM_001379270.1(CNGA1):c.360C>T (p.Asn120=)

SNV
Germline

Chr4:47943258

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA233751

rs_147591591

5 SubmittersRCV000153034 RCV001149737

NM_201253.3(CRB1):c.1533C>T (p.Ala511=)

SNV
Germline

Chr1:197421361

Conflicting classifications of pathogenicity

not specified
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA233859

rs_142224492

7 SubmittersRCV000153109 RCV000272435 RCV000327584 RCV000377522 RCV000755993 RCV001085035 RCV001275648 RCV001532866

NM_000283.4(PDE6B):c.1401+4C>T

SNV
Germline

Chr4:657498

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA180277

rs_113246945

5 SubmittersRCV000153665 RCV001156613 RCV001151135 RCV001515674 RCV004815230

NM_000283.4(PDE6B):c.2193+1G>A

SNV
Germline

Chr4:664945

Pathogenic

Retinitis pigmentosa 40
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa 40
PDE6B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273358

rs_727504075

15 SubmittersRCV000153667 RCV000216602 RCV000723948 RCV001073971 RCV002498731 RCV003387510

NM_006017.3(PROM1):c.1497C>T (p.Ile499=)

SNV
Germline

Chr4:16000577

Conflicting classifications of pathogenicity

not specified
Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA180342

rs_113895168

8 SubmittersRCV000153771 RCV001144801 RCV001150902 RCV001150903 RCV001150904 RCV004815231 RCV000757689

NM_001012720.2(RGR):c.318T>C (p.Ser106=)

SNV
Germline

Chr10:84249003

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA180388

rs_143761967

5 SubmittersRCV000153836 RCV000362368 RCV000954958

NM_001012720.2(RGR):c.744+5A>G

SNV
Germline

Chr10:84258011

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 44
RGR-related disorder
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA180391

rs_143720091

9 SubmittersRCV000153837 RCV000963256 RCV001001658 RCV003917508 RCV004815232 RCV000375563

NM_006269.2(RP1):c.228C>T (p.Leu76=)

SNV
Germline

Chr8:54621194

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 1
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA234799

rs_142600056

7 SubmittersRCV000153846 RCV001002259 RCV001158394 RCV001698978

NM_000541.5(SAG):c.468C>T (p.Phe156=)

SNV
Germline

Chr2:233327153

Conflicting classifications of pathogenicity

Condition: not provided
Oguchi disease
Retinitis pigmentosa
SAG-related disorder

Criteria Provided
Conflicting Classifications

CA234839

rs_375593027

4 SubmittersRCV000153884 RCV000270034 RCV000325042 RCV004532736

NM_000310.4(PPT1):c.541G>A (p.Val181Met)

SNV
Germline

Chr1:40080483

Pathogenic

Neuronal ceroid lipofuscinosis 1
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA274047

rs_148412181

12 SubmittersRCV000169209 RCV001723740 RCV002259317 RCV002345567

NM_019098.5(CNGB3):c.644-1G>C

SNV
Germline

Chr8:86667134

Pathogenic

Achromatopsia 3
Condition: not provided
Achromatopsia
Achromatopsia 3
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
CNGB3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273948

rs_201794629

11 SubmittersRCV000169108 RCV000814009 RCV001002980 RCV001535671 RCV004732735

NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)

SNV
Germline

Chr6:64230600

Pathogenic/Likely pathogenic

not specified
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
EYS-related disorder
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA199162

rs_749909863

18 SubmittersRCV000169660 RCV000177524 RCV001723741 RCV001075403 RCV003895170 RCV001376308

NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter)

SNV
Germline

Chr1:94047022

Likely pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa

Criteria Provided
Single Submitter

CA235750

rs_786205447

2 SubmittersRCV000171156 RCV001257843

NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg)

SNV
Germline

Chr1:197421008

Pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA235768

rs_786205450

3 SubmittersRCV000171163 RCV001257859 RCV003765070 RCV004527365

NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr)

SNV
Germline

Chr1:197421611

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA235770

rs_752212470

2 SubmittersRCV000171164 RCV001563787 RCV001563788

NM_017791.3(FLVCR2):c.998G>A (p.Arg333His)

SNV
Germline

Chr14:75633674

Conflicting classifications of pathogenicity

Condition: not provided
Posterior column ataxia-retinitis pigmentosa syndrome

Criteria Provided
Conflicting Classifications

CA235910

rs_757778790

3 SubmittersRCV000171224 RCV001120376

NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)

SNV
Germline

Chr14:88416760

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis 3
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA235914

rs_767745816

9 SubmittersRCV000171226 RCV001003226 RCV001257831 RCV001852064 RCV005237635

NM_014249.4(NR2E3):c.119-2A>C

SNV
Germline

Chr15:71811481

Pathogenic/Likely pathogenic

Enhanced S-cone syndrome
not specified
Retinitis pigmentosa 37
Condition: not provided
Retinal dystrophy
NR2E3-related disorder
Visual impairment
Retinal dystrophy
Horizontal nystagmus
Color vision defect
Cone-rod dystrophy
Retinitis pigmentosa
Goldmann-Favre syndrome
Enhanced S-cone syndrome
Retinitis pigmentosa 37
Ocular albinism
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA235931

rs_2723341

34 SubmittersRCV000005864 RCV000507553 RCV000185571 RCV000171236 RCV000505031 RCV000261643 RCV000626919 RCV000678584 RCV000787627 RCV001275369 RCV000668212 RCV002243841 RCV002515235

NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter)

SNV
Germline

Chr15:71811978

Pathogenic/Likely pathogenic

Condition: not provided
Enhanced S-cone syndrome
Retinitis pigmentosa 37
Enhanced S-cone syndrome
Retinitis pigmentosa 37
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA235932

rs_786205493

6 SubmittersRCV000171237 RCV003468851 RCV001376479 RCV005003522 RCV004815268

NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser)

SNV
Germline

Chr15:71812410

Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Enhanced S-cone syndrome
Retinitis pigmentosa 37
Enhanced S-cone syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA235935

rs_368098126

6 SubmittersRCV000171238 RCV000787632 RCV001074909 RCV003468852 RCV005008095

NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu)

SNV
Germline

Chr15:71813567

Likely pathogenic

Enhanced S-cone syndrome
Retinitis pigmentosa 37
Condition: not provided

Criteria Provided
Single Submitter

CA235938

rs_761628767

2 SubmittersRCV003989478 RCV001029779 RCV000171239

NM_000554.6(CRX):c.274G>A (p.Ala92Thr)

SNV
Germline

Chr19:47839341

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Autosomal dominant retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA236030

rs_786205521

3 SubmittersRCV000171286 RCV001342675 RCV001257853

NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser)

SNV
Germline

Chr2:96290475

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA236057

rs_786205529

3 SubmittersRCV000171298 RCV001257804 RCV003888607

NM_006343.3(MERTK):c.325A>T (p.Lys109Ter)

SNV
Germline

Chr2:111929383

Pathogenic

Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 38
Condition: not provided

Criteria Provided
Single Submitter

CA236067

rs_786205533

2 SubmittersRCV001257798 RCV003987405 RCV000171303

NM_006343.3(MERTK):c.1604+2T>G

SNV
Germline

Chr2:111997478

Pathogenic

Condition: not provided
Retinitis pigmentosa 38
Autosomal recessive retinitis pigmentosa

Criteria Provided
Single Submitter

CA236069

rs_786205534

2 SubmittersRCV000171304 RCV003987406 RCV001257900

NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter)

SNV
Germline

Chr2:112021494

Likely pathogenic

Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 38
Condition: not provided

Criteria Provided
Single Submitter

CA236070

rs_786205535

2 SubmittersRCV001257796 RCV003987407 RCV000171305

NM_201548.5(CERKL):c.812T>C (p.Ile271Thr)

SNV
Germline

Chr2:181558574

Likely pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA236112

rs_786205545

2 SubmittersRCV000171327 RCV001257877 RCV003987408

NM_001278293.3(ARL6):c.362G>A (p.Arg121His)

SNV
Germline

Chr3:97788002

Likely pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Retinitis pigmentosa 55

Criteria Provided
Multiple Submitters
No Conflicts

CA280069

rs_765715798

7 SubmittersRCV000171364 RCV001257839 RCV001852067 RCV002469042 RCV005003523 RCV005623069

NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser)

SNV
Germline

Chr3:101229574

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA236192

rs_111784356

5 SubmittersRCV000171365 RCV000987301 RCV000958677

NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)

SNV
Germline

Chr3:101244057

Pathogenic/Likely pathogenic

Condition: not provided
Vitelliform macular dystrophy 5
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA236194

rs_786205564

4 SubmittersRCV000171366 RCV003987409 RCV001003055 RCV001257825

NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)

SNV
Germline

Chr3:101291499

Pathogenic

Condition: not provided
Vitelliform macular dystrophy 5
Autosomal recessive retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA236196

rs_763295314

4 SubmittersRCV000171367 RCV000678577 RCV001257828

NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)

SNV
Germline

Chr4:16025218

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease 4
Retinitis pigmentosa
Stargardt disease 4
Retinitis pigmentosa 41
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinal dystrophy
Retinal macular dystrophy type 2
Retinitis pigmentosa 41
Autosomal recessive retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA236211

rs_140872693

10 SubmittersRCV000171375 RCV000356757 RCV000390528 RCV000765766 RCV004815269 RCV000348573 RCV000987426 RCV001257791

NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)

SNV
Germline

Chr6:35503626

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Conflicting Classifications

CA236254

rs_770045008

8 SubmittersRCV000171394 RCV001257784 RCV003888608 RCV005406883 RCV004796064

NM_006915.3(RP2):c.2T>C (p.Met1Thr)

SNV
Germline

ChrX:46837102

Pathogenic/Likely pathogenic

Condition: not provided
X-linked retinitis pigmentosa
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA236346

rs_797044561

4 SubmittersRCV000171435 RCV001257801 RCV001003180

NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr)

SNV
Germline

Chr1:197429555

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA279259

rs_863223341

4 SubmittersRCV000201433 RCV005417986 RCV003474924

NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter)

SNV
Germline

Chr2:29073550

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA279265

rs_863223344

1 SubmittersRCV000201436

NM_000283.4(PDE6B):c.1060-1G>T

SNV
Germline

Chr4:656244

Pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279322

rs_863223339

3 SubmittersRCV000201503 RCV004815272 RCV001268564

NM_006269.2(RP1):c.679T>G (p.Phe227Val)

SNV
Germline

Chr8:54622180

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA279284

rs_863223340

1 SubmittersRCV000201456

NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu)

SNV
Germline

Chr16:1520177

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA277670

rs_779007169

2 SubmittersRCV000201484 RCV004816249

NM_001386393.1(PANK2):c.962T>C (p.Phe321Ser)

SNV
Germline

Chr20:3912514

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA279308

rs_863223343

1 SubmittersRCV000201489

NM_015662.3(IFT172):c.4701C>A (p.His1567Gln)

SNV
Germline

Chr2:27446314

Pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20

Criteria Provided
Single Submitter

CA199770

rs_786205855

2 SubmittersRCV003765075 RCV002508142

NM_015662.3(IFT172):c.1525-1G>A

SNV
Germline

Chr2:27471096

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA199772

rs_370540673

5 SubmittersRCV004562395 RCV002492710 RCV002515241 RCV004737264 RCV005600800

NM_015662.3(IFT172):c.4815T>G (p.Asp1605Glu)

SNV
Germline

Chr2:27445929

Pathogenic

Retinitis pigmentosa 71

No Assertion Criteria Provided

CA199773

rs_786205856

1 SubmittersRCV000171550

NM_015662.3(IFT172):c.770T>C (p.Leu257Pro)

SNV
Germline

Chr2:27481061

Pathogenic

Retinitis pigmentosa 71

No Assertion Criteria Provided

CA199775

rs_786205857

1 SubmittersRCV000171551

NM_015662.3(IFT172):c.3112-5T>A

SNV
Germline

Chr2:27457760

Pathogenic

Retinitis pigmentosa 71

No Assertion Criteria Provided

CA199777

rs_786205858

1 SubmittersRCV000171552

NM_000283.4(PDE6B):c.299G>A (p.Arg100His)

SNV
Germline

Chr4:625925

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 40
PDE6B-related disorder

Criteria Provided
Conflicting Classifications

CA238578

rs_555600300

7 SubmittersRCV000173097 RCV000779449 RCV004816251 RCV001376247 RCV004535181

NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp)

SNV
Germline

Chr4:625758

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200297

rs_199974771

3 SubmittersRCV000173098 RCV000337389 RCV000398223 RCV001518969

NM_000327.4(ROM1):c.47G>A (p.Arg16His)

SNV
Germline

Chr11:62613328

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA238591

rs_143166696

6 SubmittersRCV003888610 RCV000724496 RCV001103768

NM_000327.4(ROM1):c.81G>T (p.Leu27=)

SNV
Germline

Chr11:62613362

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA238593

rs_148196509

6 SubmittersRCV000173111 RCV001729426 RCV000368177

NM_000440.3(PDE6A):c.251A>T (p.Lys84Met)

SNV
Germline

Chr5:149944423

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

CA238608

rs_771965437

3 SubmittersRCV000173133 RCV005396517

NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)

SNV
Germline

Chr5:149944370

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 43
PDE6A-related disorder

Criteria Provided
Conflicting Classifications

CA238610

rs_141252097

20 SubmittersRCV000173136 RCV000407624 RCV001073620 RCV001257852 RCV001376501 RCV004739555

NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys)

SNV
Germline

Chr2:29071204

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA238639

rs_201355503

5 SubmittersRCV000173180 RCV000314136

NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg)

SNV
Germline

Chr2:29071203

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA238641

rs_200367963

5 SubmittersRCV000173181 RCV001141416

NM_001029883.3(PCARE):c.537T>C (p.Pro179=)

SNV
Germline

Chr2:29073725

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA238642

rs_201965800

3 SubmittersRCV000173182 RCV000385575

NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr)

SNV
Germline

Chr2:29071084

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA200349

rs_72861054

3 SubmittersRCV000173185 RCV000894308 RCV001138830

NM_001029883.3(PCARE):c.3114G>C (p.Val1038=)

SNV
Germline

Chr2:29071148

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA200351

rs_140790266

3 SubmittersRCV000173186 RCV000905069 RCV001138832

NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr)

SNV
Germline

Chr2:29072199

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa
Retinitis pigmentosa 54

Criteria Provided
Conflicting Classifications

CA200359

rs_149601594

6 SubmittersRCV000224337 RCV000173192 RCV001138933 RCV001283146

NM_002900.3(RBP3):c.1514A>T (p.His505Leu)

SNV
Germline

Chr10:47349998

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 66
Retinitis pigmentosa
Retinitis pigmentosa
Retinitis pigmentosa 66

Criteria Provided
Conflicting Classifications

CA238754

rs_201808774

5 SubmittersRCV000173289 RCV000206920 RCV001107413 RCV005396518

NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu)

SNV
Germline

Chr10:47350652

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 66
Condition: not provided
Retinitis pigmentosa
RBP3-related disorder

Criteria Provided
Conflicting Classifications

CA200435

rs_148247227

5 SubmittersRCV000173291 RCV000206940 RCV000966383 RCV001103698 RCV003927582

NM_033100.4(CDHR1):c.1A>G (p.Met1Val)

SNV
Germline

Chr10:84194761

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 15
Retinitis pigmentosa
CDHR1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA238994

rs_794726954

7 SubmittersRCV000173546 RCV001589051 RCV001723745 RCV004748622 RCV004816255

NM_201548.5(CERKL):c.27G>A (p.Arg9=)

SNV
Germline

Chr2:181656980

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 26
Retinitis pigmentosa
not specified
CERKL-related disorder

Criteria Provided
Conflicting Classifications

CA239053

rs_368855330

8 SubmittersRCV000173594 RCV001271353 RCV001138677 RCV001699051 RCV003917605

NM_201548.5(CERKL):c.66C>G (p.Pro22=)

SNV
Germline

Chr2:181656941

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Retinitis pigmentosa 26
Condition: not provided

Criteria Provided
Conflicting Classifications

CA239056

rs_199762900

7 SubmittersRCV000173595 RCV000322879 RCV000625305 RCV000953183

NM_203288.2(RP9):c.34G>A (p.Ala12Thr)

SNV
Germline

Chr7:33109339

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA239059

rs_775870239

3 SubmittersRCV000173596 RCV000334479

NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser)

SNV
Germline

Chr1:94078693

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA239111

rs_794726979

7 SubmittersRCV000173679 RCV001073557 RCV005237645

NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser)

SNV
Germline

Chr16:57960015

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200691

rs_192628905

4 SubmittersRCV000173736 RCV000371837 RCV000755238

NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp)

SNV
Germline

Chr6:35506041

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Conflicting Classifications

CA239234

rs_794726991

3 SubmittersRCV000173773 RCV005031703

NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg)

SNV
Germline

ChrX:38297350

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
X-linked cone-rod dystrophy 1
Retinitis pigmentosa 3

Criteria Provided
Conflicting Classifications

CA239469

rs_794727019

3 SubmittersRCV000173995 RCV001360742 RCV001353107

NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr)

SNV
Germline

Chr7:128396989

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 11
Retinitis pigmentosa
Leber congenital amaurosis 11
Retinitis pigmentosa 10
Condition: not provided
IMPDH1-related disorder

Criteria Provided
Conflicting Classifications

CA239483

rs_72624961

6 SubmittersRCV000174020 RCV000281510 RCV000322287 RCV000765929 RCV000877998 RCV004535194

NM_006017.3(PROM1):c.1345G>A (p.Val449Met)

SNV
Germline

Chr4:16006647

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinitis pigmentosa 41
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
PROM1-related disorder
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA239871

rs_200620291

7 SubmittersRCV001147666 RCV001535742 RCV001147668 RCV001151003 RCV004539610 RCV000724359 RCV001147667

NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp)

SNV
Germline

Chr4:662204

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA240006

rs_774268095

3 SubmittersRCV000174465 RCV001376288

NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter)

SNV
Germline

Chr6:65057696

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA274990

rs_372354156

6 SubmittersRCV000174505 RCV001199681 RCV003468854

NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn)

SNV
Germline

Chr16:57950537

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Optic atrophy
Inborn genetic diseases
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA240054

rs_146170855

7 SubmittersRCV000320799 RCV000723993 RCV004816261 RCV004975306 RCV004757970

NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met)

SNV
Germline

Chr17:6470345

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 5
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA240158

rs_139119218

4 SubmittersRCV000174604 RCV000297049 RCV000787862

NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)

SNV
Germline

Chr6:64997607

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
not specified
Retinitis pigmentosa 25
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA240287

rs_201652272

14 SubmittersRCV000174710 RCV001073420 RCV001844068 RCV000678566 RCV005625366

NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)

SNV
Germline

Chr6:64997647

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA275001

rs_794727120

7 SubmittersRCV000174711 RCV001075263 RCV001723749 RCV001826878

NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr)

SNV
Germline

Chr6:10770188

Conflicting classifications of pathogenicity

not specified
Retinitis Pigmentosa, Recessive
Retinitis pigmentosa 62
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201139

rs_79544660

8 SubmittersRCV000174716 RCV000267725 RCV000625227 RCV000762391

NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr)

SNV
Germline

Chr6:35500100

Conflicting classifications of pathogenicity

Condition: not provided
not specified
TULP1-related disorder
Retinal dystrophy
Retinitis pigmentosa 14

Criteria Provided
Conflicting Classifications

CA240311

rs_121909075

7 SubmittersRCV000174738 RCV002222423 RCV004537371 RCV004816262 RCV005252789

NM_000440.3(PDE6A):c.1926+1G>A

SNV
Germline

Chr5:149884779

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA275023

rs_794727139

6 SubmittersRCV000174847 RCV001199499 RCV004816264 RCV001376192

NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln)

SNV
Germline

Chr16:1568260

Conflicting classifications of pathogenicity

Condition: not provided
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
IFT140-related disorder

Criteria Provided
Conflicting Classifications

CA240556

rs_373111085

4 SubmittersRCV000174924 RCV001234939 RCV002478565 RCV004752773

NM_206933.4(USH2A):c.3489C>T (p.Asp1163=)

SNV
Germline

Chr1:216199949

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA240980

rs_139156019

3 SubmittersRCV000175255 RCV001100642 RCV001100643

NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)

SNV
Germline

Chr6:64902146

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
EYS-related disorder
Autosomal recessive retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA241009

rs_367857088

7 SubmittersRCV000175284 RCV001161279 RCV000665715 RCV003917623 RCV001278511

NM_001297.5(CNGB1):c.1626C>T (p.Thr542=)

SNV
Germline

Chr16:57923290

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Conflicting Classifications

CA201375

rs_148735841

7 SubmittersRCV000384870 RCV000175289 RCV000755932 RCV003103741

NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)

SNV
Germline

Chr6:64886718

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
not specified
Retinitis pigmentosa
Optic atrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA241169

rs_201819948

10 SubmittersRCV000175412 RCV000625444 RCV001844069 RCV001161276 RCV004816270 RCV004816269

NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp)

SNV
Germline

Chr2:112028457

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 38
Retinitis pigmentosa
MERTK-related disorder

Criteria Provided
Conflicting Classifications

CA241210

rs_2230516

8 SubmittersRCV000175453 RCV001001374 RCV001132911 RCV003895187

NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr)

SNV
Germline

Chr10:47353332

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 66
RBP3-related disorder

Criteria Provided
Conflicting Classifications

CA241484

rs_148591757

4 SubmittersRCV000175739 RCV000206994 RCV003947489

NM_001354768.3(NRL):c.151C>T (p.Pro51Ser)

SNV
Germline

Chr14:24082698

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 27

Criteria Provided
Multiple Submitters
No Conflicts

CA275077

rs_794727281

4 SubmittersRCV000175819 RCV001376429

NM_006269.2(RP1):c.515T>G (p.Leu172Arg)

SNV
Germline

Chr8:54621481

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA241609

rs_180729424

5 SubmittersRCV000175822 RCV000504802 RCV000302193

NM_015629.4(PRPF31):c.138T>C (p.Asp46=)

SNV
Germline

Chr19:54118416

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
PRPF31-related disorder

Criteria Provided
Conflicting Classifications

CA241679

rs_76251057

5 SubmittersRCV000175872 RCV001132611 RCV003888627 RCV003927613

NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)

SNV
Germline

Chr14:21294745

Pathogenic/Likely pathogenic

Cone-rod dystrophy 13
Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA201680

rs_192003551

8 SubmittersRCV000175918 RCV000724658 RCV001261169 RCV001852161 RCV005417990

NM_022367.4(SEMA4A):c.84G>A (p.Thr28=)

SNV
Germline

Chr1:156154662

Conflicting classifications of pathogenicity

not specified
Retinitis Pigmentosa, Recessive
Cone-rod dystrophy 10
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA241787

rs_149711133

4 SubmittersRCV000245672 RCV000305936 RCV000360557 RCV000723749 RCV001097418

NM_201253.3(CRB1):c.600A>G (p.Thr200=)

SNV
Germline

Chr1:197328951

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA201752

rs_77713666

7 SubmittersRCV000176012 RCV000331649 RCV000277900 RCV000386258 RCV000878480 RCV001727616 RCV001832005

NM_000283.4(PDE6B):c.2344G>A (p.Val782Met)

SNV
Germline

Chr4:666606

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA241888

rs_145124626

3 SubmittersRCV000176031 RCV000259243 RCV000314427

NM_014714.4(IFT140):c.2551G>A (p.Val851Met)

SNV
Germline

Chr16:1526645

Conflicting classifications of pathogenicity

Condition: not provided
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
IFT140-related disorder

Criteria Provided
Conflicting Classifications

CA241953

rs_754753583

4 SubmittersRCV000176094 RCV001039003 RCV002492757 RCV003955044

NM_001142800.2(EYS):c.3443+1G>T

SNV
Germline

Chr6:64813377

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided
Retinitis pigmentosa
EYS-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA275110

rs_373441420

13 SubmittersRCV000176281 RCV000724528 RCV001274886 RCV003398889 RCV001074850

NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys)

SNV
Germline

Chr16:57916137

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
CNGB1-related retinopathy
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA242185

rs_192843629

11 SubmittersRCV001074215 RCV000291964 RCV000724483 RCV005361069 RCV004757973

NM_001297.5(CNGB1):c.2370-9C>T

SNV
Germline

Chr16:57911884

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 45
Retinitis pigmentosa
not specified
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA242532

rs_374373659

6 SubmittersRCV000176539 RCV000625378 RCV001121741 RCV001699221 RCV003927631

NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)

SNV
Germline

Chr6:64590357

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202035

rs_199689193

10 SubmittersRCV000176624 RCV000504628 RCV000665978 RCV000963176

NM_001142800.2(EYS):c.5644+5G>A

SNV
Germline

Chr6:64590218

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA242647

rs_794727412

8 SubmittersRCV000176626 RCV001272882 RCV002250587

NM_000329.3(RPE65):c.168A>G (p.Pro56=)

SNV
Germline

Chr1:68446787

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA243145

rs_150260489

3 SubmittersRCV000177043 RCV001088492 RCV004816282

NM_000539.3(RHO):c.541G>A (p.Glu181Lys)

SNV
Germline

Chr3:129532261

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Retinitis pigmentosa
Retinal dystrophy
RHO-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA275168

rs_775557680

15 SubmittersRCV000177081 RCV000504731 RCV001074893 RCV004755791 RCV000724301

NM_005802.5(TOPORS):c.2862A>C (p.Thr954=)

SNV
Germline

Chr9:32541663

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA243376

rs_143560726

3 SubmittersRCV000177243 RCV001167023

NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala)

SNV
Germline

Chr9:32542181

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA243378

rs_746320974

3 SubmittersRCV000177244 RCV001168731

NM_005802.5(TOPORS):c.2018G>T (p.Arg673Leu)

SNV
Germline

Chr9:32542507

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Retinitis pigmentosa 31

Criteria Provided
Conflicting Classifications

CA243382

rs_147497536

5 SubmittersRCV000177246 RCV004020107 RCV005396539

NM_144631.6(ZNF513):c.290C>T (p.Ala97Val)

SNV
Germline

Chr2:27378976

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA243582

rs_35554630

4 SubmittersRCV000416163 RCV001140881

NM_144631.6(ZNF513):c.519C>T (p.Ser173=)

SNV
Germline

Chr2:27378747

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA243584

rs_199520071

3 SubmittersRCV000177404 RCV001140878

NM_144596.4(TTC8):c.267C>A (p.Arg89=)

SNV
Germline

Chr14:88840866

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Bardet-Biedl syndrome 8
TTC8-related disorder
Bardet-Biedl syndrome
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA243607

rs_200113889

6 SubmittersRCV000177429 RCV001001279 RCV001117607 RCV003907599 RCV001078936 RCV001117606

NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)

SNV
Germline

Chr14:88840883

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA202465

rs_150880478

10 SubmittersRCV000177430 RCV000559336 RCV001119197 RCV001706134 RCV001117608

NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=)

SNV
Germline

Chr16:57897504

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202502

rs_539304668

3 SubmittersRCV000177528 RCV000281889 RCV002054094

NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)

SNV
Germline

Chr16:57897524

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
CNGB1-related retinopathy
Condition: not provided
Inborn genetic diseases
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA202504

rs_148999583

11 SubmittersRCV000989610 RCV000177529 RCV005361070 RCV000761936 RCV002517713 RCV003937605

NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=)

SNV
Germline

Chr17:1658550

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA244649

rs_141456140

7 SubmittersRCV000177748 RCV000298004 RCV001699055 RCV003888632

NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)

SNV
Germline

Chr1:215998943

Pathogenic/Likely pathogenic

Condition: not provided
not specified
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA275221

rs_794727579

7 SubmittersRCV000177821 RCV001002426 RCV001075614 RCV001826903 RCV003454452

NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)

SNV
Germline

Chr4:653934

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA245084

rs_144562730

8 SubmittersRCV000178068 RCV000346036 RCV000288799

NM_000326.5(RLBP1):c.29T>A (p.Met10Lys)

SNV
Germline

Chr15:89218677

Conflicting classifications of pathogenicity

not specified
Pigmentary retinal dystrophy
Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202707

rs_77384282

3 SubmittersRCV000178076 RCV000280535 RCV000329645 RCV000386660 RCV000896034

NM_000883.4(IMPDH1):c.336C>T (p.Ala112=)

SNV
Germline

Chr7:128405784

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11

Criteria Provided
Conflicting Classifications

CA245158

rs_547740249

3 SubmittersRCV000178133 RCV000348403 RCV000395095

NM_001142800.2(EYS):c.490C>T (p.Arg164Ter)

SNV
Germline

Chr6:65494921

Pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA275249

rs_794727631

12 SubmittersRCV000178152 RCV000763560 RCV000505178 RCV004816290

NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn)

SNV
Germline

Chr8:54630078

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 1

Criteria Provided
Conflicting Classifications

CA245308

rs_149282954

8 SubmittersRCV001165450 RCV000178261 RCV003133163

NM_006269.2(RP1):c.4299A>G (p.Ala1433=)

SNV
Germline

Chr8:54628181

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA245310

rs_148918111

3 SubmittersRCV000178264 RCV000370926

NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)

SNV
Germline

Chr8:54627708

Conflicting classifications of pathogenicity

Condition: not provided
RP1-related disorder
Retinitis pigmentosa
Retinitis pigmentosa 1

Criteria Provided
Conflicting Classifications

CA245314

rs_151316028

8 SubmittersRCV000178266 RCV003895200 RCV001163234 RCV001356977

NM_206933.4(USH2A):c.7595-3C>G

SNV
Germline

Chr1:215889057

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome
USH2A-related disorder
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA275270

rs_201657446

13 SubmittersRCV000178475 RCV000669197 RCV001075871 RCV003445607 RCV000504696 RCV004537466 RCV001542728

NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=)

SNV
Germline

Chr17:1651169

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
PRPF8-related disorder

Criteria Provided
Conflicting Classifications

CA245637

rs_369391284

4 SubmittersRCV000178505 RCV000383166 RCV003947520

NM_206933.4(USH2A):c.8682-9A>G

SNV
Germline

Chr1:215867179

Pathogenic

Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa
USH2A-related disorder

Reviewed By Expert Panel

CA275277

rs_372347027

15 SubmittersRCV000255827 RCV000710348 RCV000666303 RCV001074617 RCV001842795 RCV001723753 RCV004537468

NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)

SNV
Germline

Chr4:654132

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA245910

rs_146646008

5 SubmittersRCV000178746 RCV000276359 RCV000331462 RCV001699056

NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)

SNV
Germline

Chr5:149921690

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA203011

rs_114973968

11 SubmittersRCV000178770 RCV000787859 RCV000954915 RCV003888635

NM_004698.4(PRPF3):c.501A>G (p.Thr167=)

SNV
Germline

Chr1:150332761

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
PRPF3-related disorder

Criteria Provided
Conflicting Classifications

CA246087

rs_146995242

4 SubmittersRCV000178895 RCV001100608 RCV004758664

NM_152443.3(RDH12):c.195A>C (p.Arg65=)

SNV
Germline

Chr14:67725106

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 13

Criteria Provided
Conflicting Classifications

CA246260

rs_771614823

3 SubmittersRCV000179017 RCV001109344 RCV001430505

NM_152443.3(RDH12):c.300C>T (p.Ser100=)

SNV
Germline

Chr14:67725211

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 13
Retinitis pigmentosa
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA246262

rs_746513362

4 SubmittersRCV000179018 RCV001088243 RCV001109346 RCV001275428

NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)

SNV
Germline

Chr1:215790168

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Usher syndrome
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA275315

rs_148660051

28 SubmittersRCV000179099 RCV000190637 RCV000505000 RCV000515419 RCV000482080 RCV001073681 RCV001174974 RCV004537478

NM_201548.5(CERKL):c.820+9G>A

SNV
Germline

Chr2:181558557

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

CA246607

rs_189638090

6 SubmittersRCV000179358 RCV000355534 RCV000625302

NM_006214.4(PHYH):c.678+5G>T

SNV
Germline

Chr10:13288355

Conflicting classifications of pathogenicity

Condition: not provided
Phytanic acid storage disease
PHYH-related disorder
Retinal dystrophy
Retinitis pigmentosa
Phytanoyl-CoA hydroxylase deficiency

Criteria Provided
Conflicting Classifications

CA246715

rs_201499815

10 SubmittersRCV000179461 RCV000673770 RCV003927682 RCV001075452 RCV000504947 RCV005361081

NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)

SNV
Germline

Chr17:6425644

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 4
Retinitis pigmentosa
Leber congenital amaurosis 4
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA246741

rs_150427474

8 SubmittersRCV000723621 RCV000765381 RCV001080307 RCV001124292 RCV004816300

NM_015629.4(PRPF31):c.527+9G>T

SNV
Germline

Chr19:54123569

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 11
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA246757

rs_376994481

5 SubmittersRCV000179492 RCV000625320 RCV001129022 RCV001698995

NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln)

SNV
Germline

Chr14:88426674

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Leber congenital amaurosis 3

Criteria Provided
Conflicting Classifications

CA246774

rs_34682727

3 SubmittersRCV000179503 RCV000289051 RCV000642677

NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)

SNV
Germline

Chr1:215674595

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA275369

rs_753330544

15 SubmittersRCV000179630 RCV000504835 RCV000666708 RCV000724329 RCV001074360 RCV001449693 RCV003454469

NM_001379270.1(CNGA1):c.300A>G (p.Glu100=)

SNV
Germline

Chr4:47943400

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Retinitis pigmentosa 49
Condition: not provided

Criteria Provided
Conflicting Classifications

CA203392

rs_76061451

4 SubmittersRCV000179712 RCV000315452 RCV001000540 RCV001510700

NM_205861.3(DHDDS):c.591T>G (p.Ser197=)

SNV
Germline

Chr1:26457839

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 59

Criteria Provided
Conflicting Classifications

CA247332

rs_794727876

2 SubmittersRCV000179978 RCV001462640

NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)

SNV
Germline

Chr1:197427787

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA247395

rs_142857810

8 SubmittersRCV000488061 RCV001087243 RCV001563786 RCV001376275 RCV003888637

NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter)

SNV
Germline

Chr1:94080697

Pathogenic

Condition: not provided
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA203573

rs_794727903

4 SubmittersRCV000180146 RCV005025288 RCV005252791

NM_012469.4(PRPF6):c.891C>T (p.Leu297=)

SNV
Germline

Chr20:63999627

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA247700

rs_41278234

4 SubmittersRCV000180310 RCV001139621

NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser)

SNV
Germline

Chr5:149899424

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

CA247977

rs_145107955

5 SubmittersRCV000180505 RCV004816312 RCV005396553

NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=)

SNV
Germline

Chr4:15511309

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
COACH syndrome 2
Retinitis pigmentosa 93
Joubert syndrome 9
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA248036

rs_556542553

4 SubmittersRCV000180554 RCV001497046 RCV004537512 RCV005031717

NM_001242957.3(MAK):c.975G>A (p.Pro325=)

SNV
Germline

Chr6:10796166

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis Pigmentosa, Recessive

Criteria Provided
Conflicting Classifications

CA248054

rs_145014649

4 SubmittersRCV000180566 RCV000335902

NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys)

SNV
Germline

Chr11:46705321

Pathogenic/Likely pathogenic

Retinitis pigmentosa 72
Retinal dystrophy
Condition: not provided
Exudative vitreoretinopathy 6
Retinitis pigmentosa 72

Criteria Provided
Multiple Submitters
No Conflicts

CA204009

rs_781192528

5 SubmittersRCV000186512 RCV001073959 RCV001246705 RCV002492860

NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)

SNV
Germline

Chr16:28482173

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA313722

rs_386833744

8 SubmittersRCV000187016 RCV000504655 RCV000812919 RCV001729444 RCV004975317 RCV004816316

NM_002900.3(RBP3):c.1569C>G (p.His523Gln)

SNV
Germline

Chr10:47350053

Conflicting classifications of pathogenicity

Retinitis pigmentosa 66
Condition: not provided
RBP3-related disorder

Criteria Provided
Conflicting Classifications

CA350996

rs_148093336

5 SubmittersRCV000206990 RCV001439041 RCV003937674

NM_002900.3(RBP3):c.1795A>G (p.Ile599Val)

SNV
Germline

Chr10:47350279

Conflicting classifications of pathogenicity

Retinitis pigmentosa 66
Condition: not provided
Retinitis pigmentosa
RBP3-related disorder
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 66

Criteria Provided
Conflicting Classifications

CA350922

rs_144289912

10 SubmittersRCV000206927 RCV000371593 RCV001105649 RCV003917725 RCV004816319 RCV005396567

NM_015662.3(IFT172):c.112C>T (p.Arg38Ter)

SNV
Germline

Chr2:27485431

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA204566

rs_139021548

6 SubmittersRCV000190597 RCV001387370 RCV003488445 RCV005016550 RCV004737295

NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)

SNV
Germline

Chr6:64081899

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA275998

rs_797045089

10 SubmittersRCV000190583 RCV000415866 RCV001073318 RCV001272876

NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)

SNV
Germline

Chr6:65405349

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA276000

rs_752683070

6 SubmittersRCV000190584 RCV001069674 RCV001074844 RCV003230445

NM_152419.3(HGSNAT):c.398G>C (p.Gly133Ala)

SNV
Germline

Chr8:43158949

Pathogenic

Retinitis pigmentosa 73

No Assertion Criteria Provided

CA204925

rs_797045120

1 SubmittersRCV000190842

NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)

SNV
Germline

Chr8:43158710

Conflicting classifications of pathogenicity

Retinitis pigmentosa 73
Retinitis pigmentosa
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA204927

rs_754875934

11 SubmittersRCV000190843 RCV001003048 RCV001049013 RCV000675051 RCV001075594 RCV002272169

NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)

SNV
Germline

Chr8:43199504

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Condition: not provided
not specified
Retinal dystrophy
Retinitis pigmentosa
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
HGSNAT-related disorder

Criteria Provided
Conflicting Classifications

CA204929

rs_112029032

25 SubmittersRCV000190845 RCV000190844 RCV000224674 RCV000507277 RCV000504631 RCV001003049 RCV001082167 RCV003407694

NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)

SNV
Germline

Chr16:56519765

Conflicting classifications of pathogenicity

Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Retinitis pigmentosa
Bardet-Biedl syndrome
BBS2-related disorder

Criteria Provided
Conflicting Classifications

CA204968

rs_797045155

6 SubmittersRCV000190987 RCV000675055 RCV001002878 RCV001380380 RCV004539761

NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)

SNV
Germline

Chr16:56511229

Pathogenic

Retinitis pigmentosa 74
Retinitis pigmentosa
Bardet-Biedl syndrome 2
Retinal dystrophy
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA204970

rs_376306240

8 SubmittersRCV000190988 RCV001002875 RCV000675071 RCV001074319 RCV001049931

NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)

SNV
Germline

Chr1:215786715

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA276181

rs_368049814

16 SubmittersRCV000191142 RCV000484923 RCV000504830 RCV000675180 RCV001002723 RCV001073310 RCV001804928

NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)

SNV
Germline

Chr1:215993155

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
not specified
USH2A-related disorder
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA276179

rs_149553844

16 SubmittersRCV000191140 RCV000359124 RCV000504652 RCV001073314 RCV003155115 RCV004530089 RCV000765068 RCV001002722

NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg)

SNV
Germline

Chr16:57923327

Conflicting classifications of pathogenicity

Retinitis pigmentosa 45
Retinitis pigmentosa
Retinitis pigmentosa 49
Condition: not provided

Criteria Provided
Conflicting Classifications

CA358282

rs_201553871

4 SubmittersRCV000191921 RCV001119868 RCV000490531 RCV001489289

NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)

SNV
Germline

Chr2:73452960

Pathogenic

Alstrom syndrome
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA277244

rs_770558150

8 SubmittersRCV000194023 RCV001073778 RCV003148669 RCV001723763

NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)

SNV
Germline

Chr4:15557361

Pathogenic/Likely pathogenic

Joubert syndrome 9
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
CC2D2A-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA209079

rs_764719093

6 SubmittersRCV000194720 RCV000763523 RCV003765214 RCV005025311 RCV004528978 RCV003238731

NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)

SNV
Germline

Chr6:135433206

Likely pathogenic

Joubert syndrome 3
Retinitis pigmentosa

Criteria Provided
Single Submitter

CA277462

rs_797045224

2 SubmittersRCV000195247 RCV000504798

NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)

SNV
Germline

ChrX:13763840

Conflicting classifications of pathogenicity

not specified
Orofaciodigital syndrome I
Joubert syndrome
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA205192

rs_797045846

4 SubmittersRCV000192398 RCV001223911 RCV002485287 RCV004020331

NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)

SNV
Germline

Chr1:94060733

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA347415

rs_200692438

9 SubmittersRCV000194199 RCV000408459 RCV001071977 RCV001075570 RCV002485297

NM_144596.4(TTC8):c.1077C>T (p.Asn359=)

SNV
Germline

Chr14:88871576

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified
Retinitis pigmentosa
Bardet-Biedl syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA339465

rs_150896551

7 SubmittersRCV000200657 RCV000249386 RCV001116280 RCV001117715 RCV001579358

NM_144596.4(TTC8):c.1464G>C (p.Ala488=)

SNV
Germline

Chr14:88877326

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified
Retinitis pigmentosa
Condition: not provided
Bardet-Biedl syndrome 8
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA336017

rs_142073418

8 SubmittersRCV000195887 RCV000248272 RCV001121289 RCV001795322 RCV001119277 RCV004816339

NM_201253.3(CRB1):c.2227G>C (p.Val743Leu)

SNV
Germline

Chr1:197427552

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA279025

rs_863224862

2 SubmittersRCV000199723 RCV001580469

NM_006343.3(MERTK):c.2192T>C (p.Leu731Ser)

SNV
Unknown

Chr2:112021424

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA278959

rs_863224894

1 SubmittersRCV000197519

NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter)

SNV
Germline

Chr4:47940775

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 49
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA351306

rs_759781200

7 SubmittersRCV000987444 RCV001054103 RCV001376331 RCV004816449

NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)

SNV
Germline

Chr4:15560607

Pathogenic/Likely pathogenic

Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA210338

rs_773881370

5 SubmittersRCV000201775 RCV004796099 RCV001853233

NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)

SNV
Germline

Chr4:15563395

Pathogenic/Likely pathogenic

Joubert syndrome 9
Condition: not provided
Meckel syndrome, type 6
COACH syndrome 1
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA210269

rs_370880399

10 SubmittersRCV000201572 RCV000489696 RCV000763524 RCV000702498 RCV000778722 RCV005031762 RCV005052801

NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)

SNV
Germline

Chr4:15580046

Pathogenic/Likely pathogenic

Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA210258

rs_779823379

5 SubmittersRCV000201552 RCV001261604 RCV001853232 RCV005031761

NM_001378615.1(CC2D2A):c.3976-3C>A

SNV
Germline

Chr4:15586154

Conflicting classifications of pathogenicity

Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA210298

rs_576298659

4 SubmittersRCV000201676 RCV002519579 RCV005031765 RCV004816346

NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)

SNV
Germline

Chr4:15586170

Conflicting classifications of pathogenicity

Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA210320

rs_763486732

5 SubmittersRCV000201714 RCV001067961 RCV005031764 RCV003144159 RCV003323453

NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)

SNV
Germline

Chr4:15599699

Pathogenic/Likely pathogenic

Joubert syndrome 9
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
COACH syndrome 1
CC2D2A-related disorder
Neurodevelopmental disorder
Ciliopathy
Retinal dystrophy
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA210318

rs_201502401

20 SubmittersRCV000201706 RCV000286210 RCV000474430 RCV000347415 RCV001266486 RCV001542750 RCV000778102 RCV002277554 RCV005365132 RCV004816345 RCV005031763 RCV003317149

NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)

SNV
Germline

Chr6:135433081

Pathogenic

Joubert syndrome 3
Condition: not provided
Retinitis pigmentosa
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277726

rs_372659908

5 SubmittersRCV000201604 RCV000255574 RCV001002863 RCV001387494

NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys)

SNV
Germline

Chr4:662197

Pathogenic/Likely pathogenic

Retinitis pigmentosa 40
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277821

rs_201541131

4 SubmittersRCV000201856 RCV000505045 RCV001075447 RCV001853246

NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)

SNV
Germline

Chr3:121772683

Conflicting classifications of pathogenicity

Nephronophthisis
Condition: not provided
IQCB1-related disorder
Retinitis pigmentosa
Senior-Loken syndrome 5

Criteria Provided
Conflicting Classifications

CA348358

rs_140630401

8 SubmittersRCV001082244 RCV000519668 RCV003917846 RCV000787845 RCV001147493

NM_015662.3(IFT172):c.3880C>T (p.Arg1294Cys)

SNV
Germline

Chr2:27453455

Conflicting classifications of pathogenicity

Anophthalmia-microphthalmia syndrome
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA072574

rs_369191459

3 SubmittersRCV000207410 RCV001853288 RCV003888642

NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter)

SNV
Germline

Chr1:216175405

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354065

rs_869312179

4 SubmittersRCV000210331 RCV001542731 RCV002515580

NM_000283.4(PDE6B):c.1876G>T (p.Glu626Ter)

SNV
Germline

Chr4:663143

Likely pathogenic

Retinitis pigmentosa 40

No Assertion Criteria Provided

CA351434

rs_758052437

1 SubmittersRCV000210313

NM_005802.5(TOPORS):c.2539C>T (p.Arg847Ter)

SNV
Germline

Chr9:32541986

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 31
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353607

rs_869312183

6 SubmittersRCV000210308 RCV005235122 RCV001090491

NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter)

SNV
Germline

Chr19:54128351

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353609

rs_869312187

4 SubmittersRCV000210312 RCV001542614 RCV000760506

NM_000440.3(PDE6A):c.1408-2A>G

SNV
Germline

Chr5:149896778

Pathogenic

Retinitis pigmentosa 43
Condition: not provided

Criteria Provided
Single Submitter

CA16609339

rs_1060499536

2 SubmittersRCV000210743 RCV005090048

NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)

SNV
Germline

Chr1:197429486

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312195

rs_114052315

5 SubmittersRCV000262643 RCV000329706 RCV000490294 RCV003888643 RCV000946241 RCV001275655

NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)

SNV
Germline

Chr1:215766729

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome

Criteria Provided
Conflicting Classifications

CA1393854

rs_150822759

8 SubmittersRCV002515601 RCV000490445 RCV000505039 RCV002503836 RCV003454559 RCV003888648 RCV005406952

NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp)

SNV
Germline

Chr1:215965437

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1394970

rs_201281141

5 SubmittersRCV000490448 RCV000665617 RCV002517445 RCV002282046

NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln)

SNV
Germline

Chr4:47937223

Conflicting classifications of pathogenicity

Retinitis pigmentosa 49
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2911106

rs_192912733

4 SubmittersRCV000490331 RCV000987443 RCV001509705

NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn)

SNV
Germline

Chr1:215640624

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1392895

rs_764124390

3 SubmittersRCV000218549 RCV000668291 RCV001034435

NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg)

SNV
Germline

Chr1:215650744

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1393098

rs_148674752

7 SubmittersRCV000221554 RCV000763827 RCV001272936 RCV001422550 RCV004965333

NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)

SNV
Germline

Chr1:215675211

Conflicting classifications of pathogenicity

Rare genetic deafness
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA10576374

rs_577938494

3 SubmittersRCV000221320 RCV001376369

NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu)

SNV
Germline

Chr1:215741484

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1393663

rs_35309576

4 SubmittersRCV000217475 RCV001318894 RCV005396698

NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly)

SNV
Germline

Chr1:215782759

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1393991

rs_147374057

6 SubmittersRCV000217733 RCV000763829 RCV001274951 RCV001453428 RCV004816372

NM_206933.4(USH2A):c.9570+1G>A

SNV
Germline

Chr1:215816996

Pathogenic

Rare genetic deafness
Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1394291

rs_760225886

14 SubmittersRCV000217703 RCV001073320 RCV000666079 RCV000808044 RCV001808577 RCV004532752

NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)

SNV
Germline

Chr1:215867112

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394520

rs_766590491

12 SubmittersRCV000213731 RCV000666615 RCV001273711 RCV001075409 RCV001091129 RCV005008155

NM_206933.4(USH2A):c.8681+1G>A

SNV
Germline

Chr1:215877757

Pathogenic/Likely pathogenic

Rare genetic deafness
Usher syndrome
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA10576378

rs_876657733

7 SubmittersRCV000222048 RCV000673469 RCV003688833 RCV003226253 RCV003445710 RCV005008154

NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)

SNV
Germline

Chr1:215900175

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1394821

rs_760977747

6 SubmittersRCV000217075 RCV000666814 RCV001271980 RCV001812236 RCV002517521

NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)

SNV
Germline

Chr1:215998979

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA1395103

rs_542406401

5 SubmittersRCV000216840 RCV000667038 RCV001271995 RCV001495426 RCV004532749

NM_206933.4(USH2A):c.5776+1G>A

SNV
Germline

Chr1:216073096

Pathogenic

Rare genetic deafness
Usher syndrome type 2A
Usher syndrome
Usher syndrome type 2
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Autosomal recessive retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA10576384

rs_876657731

22 SubmittersRCV000213465 RCV001002706 RCV001375185 RCV001003271 RCV002500705 RCV001542730 RCV001723796 RCV000255459 RCV001074367 RCV001257907

NM_206933.4(USH2A):c.2167+11C>T

SNV
Germline

Chr1:216250892

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396294

rs_139647897

3 SubmittersRCV000221775 RCV001101009 RCV001101010 RCV001468097

NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)

SNV
Germline

Chr1:216325448

Pathogenic/Likely pathogenic

Rare genetic deafness
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396625

rs_397517963

11 SubmittersRCV000213203 RCV000668930 RCV001003287 RCV000822071 RCV001273812 RCV001074876 RCV003454598

NM_206933.4(USH2A):c.486-1G>C

SNV
Germline

Chr1:216418680

Pathogenic

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA10576390

rs_876657730

7 SubmittersRCV000220465 RCV000578546 RCV000667749 RCV001097550

NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter)

SNV
Germline

Chr4:625917

Pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10576636

rs_876657718

3 SubmittersRCV000220232 RCV000225461 RCV001390110

NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)

SNV
Germline

Chr11:77182598

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Retinitis pigmentosa
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B
Pendred syndrome

Criteria Provided
Conflicting Classifications

CA6198019

rs_199810429

11 SubmittersRCV000220951 RCV000585568 RCV000337813 RCV000787855 RCV000390552 RCV000299195 RCV001276699 RCV001375348

NM_182916.3(TRNT1):c.609-26T>C

SNV
Germline

Chr3:3146404

Pathogenic

Retinitis pigmentosa and erythrocytic microcytosis
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

Criteria Provided
Single Submitter

CA10581123

rs_876661299

2 SubmittersRCV000223676 RCV001854766

NM_144596.4(TTC8):c.1347G>C (p.Gln449His)

SNV
Germline

Chr14:88872452

Pathogenic

Retinitis pigmentosa 51

No Assertion Criteria Provided

CA10581229

rs_876661403

1 SubmittersRCV000223936

NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)

SNV
Germline

Chr1:216200070

Pathogenic/Likely pathogenic

Usher syndrome
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396001

rs_775177930

6 SubmittersRCV002298551 RCV001857783 RCV001073837 RCV000986539 RCV003445719

NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val)

SNV
Germline

Chr1:93997943

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602405

rs_886044763

3 SubmittersRCV000408559 RCV001378637 RCV004783767 RCV004816435

NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)

SNV
Germline

Chr1:94005511

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602410

rs_886044758

4 SubmittersRCV000408446 RCV000763439 RCV000480932 RCV004816431

NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)

SNV
Germline

Chr1:94014685

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinitis pigmentosa 19
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA957302

rs_760549861

16 SubmittersRCV000408555 RCV000441041 RCV000826133 RCV001074401 RCV002485455 RCV005252827 RCV004732802

NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys)

SNV
Germline

Chr1:94019641

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa
ABCA4-related retinopathy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957371

rs_374343397

4 SubmittersRCV000408584 RCV001854785 RCV005238751 RCV005361363 RCV004816417

NM_000350.3(ABCA4):c.4773+3A>G

SNV
Germline

Chr1:94021843

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA957487

rs_759672616

11 SubmittersRCV000408554 RCV000425309 RCV000787761 RCV005025377

NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)

SNV
Germline

Chr1:94029465

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided
Stargardt disease
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA957590

rs_568792949

10 SubmittersRCV000408586 RCV001074181 RCV001380976 RCV003401161 RCV005031808 RCV004732801

NM_000350.3(ABCA4):c.4253+5G>A

SNV
Germline

Chr1:94030991

Pathogenic/Likely pathogenic

Stargardt disease
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA10602432

rs_61750138

8 SubmittersRCV000515660 RCV000504972 RCV000408462 RCV001854783 RCV004526649 RCV005025376

NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)

SNV
Germline

Chr1:94041249

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Autosomal recessive retinitis pigmentosa
Stargardt disease
Retinal dystrophy
Cone-rod dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA957928

rs_768278935

7 SubmittersRCV000408467 RCV000761669 RCV001257844 RCV003330593 RCV004816402 RCV002267731 RCV005025375

NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)

SNV
Germline

Chr1:94042797

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Age related macular degeneration 2
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA957993

rs_756840095

8 SubmittersRCV000408518 RCV000478178 RCV001196593 RCV001074682 RCV004796121

NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)

SNV
Germline

Chr1:94046943

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy
Macular dystrophy
Stargardt disease
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA958124

rs_201471607

13 SubmittersRCV000408500 RCV000413621 RCV000787770 RCV000787491 RCV000787492 RCV000787490 RCV001074886 RCV004796120 RCV004558582 RCV005252130

NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)

SNV
Germline

Chr1:94046962

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Macular degeneration
Stargardt Disease, Recessive
Retinal dystrophy
Optic atrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease

Criteria Provided
Conflicting Classifications

CA958130

rs_368846708

6 SubmittersRCV000278622 RCV000323631 RCV000425865 RCV000408538 RCV000338922 RCV000373695 RCV004816396 RCV004816397 RCV005025374 RCV005418022

NM_000350.3(ABCA4):c.2160+1G>T

SNV
Germline

Chr1:94060536

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA10602443

rs_61749427

4 SubmittersRCV000408563 RCV001075206 RCV001854780 RCV001352989

NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)

SNV
Germline

Chr1:94062692

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided
ABCA4-related disorder
Retinitis pigmentosa
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA958417

rs_61752398

10 SubmittersRCV000408543 RCV001074552 RCV001090315 RCV004732800 RCV004782319 RCV001723810

NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)

SNV
Germline

Chr1:94063180

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Condition: not provided
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958456

rs_143263315

6 SubmittersRCV000290027 RCV000325173 RCV000382014 RCV000339859 RCV000408477 RCV001100049 RCV001441278 RCV003258709 RCV004816390

NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)

SNV
Germline

Chr1:94063258

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Macular degeneration
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Condition: not provided
ABCA4-related disorder
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA958466

rs_201602424

6 SubmittersRCV000408457 RCV000312006 RCV000298675 RCV000337235 RCV000391529 RCV001522285 RCV001100053 RCV003888651 RCV004020725

NM_000350.3(ABCA4):c.1239+1G>C

SNV
Germline

Chr1:94079321

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA958598

rs_765707028

5 SubmittersRCV000408454 RCV001091616 RCV004816386 RCV005237763

NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)

SNV
Germline

Chr1:94080491

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA10602451

rs_61752390

6 SubmittersRCV000414174 RCV000408494 RCV001074163 RCV005025373

NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)

SNV
Germline

Chr1:94108702

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Macular degeneration
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
ABCA4-related disorder
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958865

rs_201150919

6 SubmittersRCV000283229 RCV000400700 RCV000347578 RCV000377526 RCV001100157 RCV001520655 RCV003888650

NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)

SNV
Germline

Chr1:94112973

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602457

rs_886044720

3 SubmittersRCV000408466 RCV002485454 RCV004816380

NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)

SNV
Germline

Chr1:197427633

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1312098

rs_767648174

11 SubmittersRCV000225453 RCV001069480 RCV001376283 RCV001833240 RCV003454681 RCV003454682 RCV005008180

NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg)

SNV
Germline

Chr1:197429605

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA10581629

rs_749746650

3 SubmittersRCV000225460 RCV002516254

NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter)

SNV
Germline

Chr1:197434732

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA10581631

rs_878853371

2 SubmittersRCV000225597 RCV001854803

NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe)

SNV
Germline

Chr1:197434880

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA10581632

rs_878853367

4 SubmittersRCV000225544 RCV002519764 RCV005008179

NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)

SNV
Germline

Chr1:215728383

Pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa
Retinitis pigmentosa 39
USH2A-related disorder

Reviewed By Expert Panel

CA1393629

rs_368675850

15 SubmittersRCV000225477 RCV000482491 RCV000675144 RCV001252669 RCV003137832 RCV003324522 RCV003469118 RCV004532830

NM_206933.4(USH2A):c.11549-1G>A

SNV
Germline

Chr1:215741538

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA10581637

rs_878853407

10 SubmittersRCV000225372 RCV000675178 RCV001197049 RCV001383731 RCV003445715

NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)

SNV
Germline

Chr1:215782170

Pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA10581638

rs_878853413

6 SubmittersRCV000225445 RCV001383883 RCV003389466 RCV003454686 RCV004567690

NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)

SNV
Germline

Chr1:216048579

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA10581641

rs_878853412

9 SubmittersRCV000225627 RCV000281204 RCV000504766 RCV000669603 RCV001833242 RCV003469119

NM_206933.4(USH2A):c.2139C>T (p.Gly713=)

SNV
Germline

Chr1:216250931

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396299

rs_765293412

4 SubmittersRCV000225689 RCV001300492 RCV001833241 RCV002487041

NM_000329.3(RPE65):c.726-2A>C

SNV
Germline

Chr1:68439325

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA10581648

rs_878853372

3 SubmittersRCV000225374 RCV003765455 RCV005252828

NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln)

SNV
Germline

Chr2:112019513

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10581654

rs_878853354

4 SubmittersRCV000225669 RCV000505072 RCV001383851

NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr)

SNV
Germline

Chr2:112021534

Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA10581655

rs_878853353

3 SubmittersRCV001854798 RCV000225591 RCV001723812

NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter)

SNV
Germline

Chr2:61839540

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 28

Criteria Provided
Multiple Submitters
No Conflicts

CA10581656

rs_761440783

5 SubmittersRCV000225381 RCV001231541 RCV001828102

NM_006017.3(PROM1):c.1632G>T (p.Gly544=)

SNV
Germline

Chr4:15998435

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 41
Cone-rod dystrophy 12
Stargardt disease 4
Retinal macular dystrophy type 2

Criteria Provided
Conflicting Classifications

CA2866701

rs_753308387

7 SubmittersRCV000225631 RCV000488414 RCV000765765

NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)

SNV
Germline

Chr4:47936954

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 49

Criteria Provided
Multiple Submitters
No Conflicts

CA2911061

rs_199584830

9 SubmittersRCV000225417 RCV000505102 RCV001246009 RCV001376521

NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)

SNV
Germline

Chr5:149944307

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

CA3505068

rs_147010346

8 SubmittersRCV000225533 RCV000407618 RCV000262570 RCV002487040

NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)

SNV
Germline

Chr6:64307024

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10581668

rs_878853350

5 SubmittersRCV001003018 RCV001854796 RCV000225657

NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)

SNV
Germline

Chr6:65402507

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA3877854

rs_143994166

10 SubmittersRCV000225560 RCV001205723 RCV000664630 RCV003987459

NM_006269.2(RP1):c.2032C>T (p.Gln678Ter)

SNV
Germline

Chr8:54625914

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA10581673

rs_878853328

5 SubmittersRCV000225475 RCV001228279 RCV000504648

NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met)

SNV
Germline

Chr16:57931869

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8083441

rs_147593839

6 SubmittersRCV000225688 RCV000367163 RCV001510510 RCV001729470

NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter)

SNV
Germline

Chr16:57964158

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 45
Retinitis pigmentosa
CNGB1-related disorder

Criteria Provided
Single Submitter

CA10581700

rs_878853394

4 SubmittersRCV000225584 RCV005016614 RCV000505159 RCV004730910

NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter)

SNV
Germline

Chr19:54128187

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
PRPF31-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA309329313

rs_868538598

7 SubmittersRCV000225648 RCV001723811 RCV001854793 RCV004757175

NM_021831.6(AGBL5):c.883G>A (p.Asp295Asn)

SNV
Germline

Chr2:27055228

Pathogenic

Retinitis pigmentosa 75
Condition: not provided

Criteria Provided
Single Submitter

CA10584033

rs_879253768

2 SubmittersRCV000234931 RCV001854844

NM_021831.6(AGBL5):c.826C>T (p.Arg276Trp)

SNV
Germline

Chr2:27055171

Conflicting classifications of pathogenicity

Retinitis pigmentosa 75
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10584034

rs_879253769

5 SubmittersRCV000234932 RCV002518415

NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)

SNV
Germline

Chr6:63721609

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
not specified
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3876710

rs_111991705

11 SubmittersRCV000667682 RCV000239188 RCV001164472 RCV003888653 RCV000757241

NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp)

SNV
Germline

Chr8:43161462

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Sanfilippo syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10586138

rs_370717845

7 SubmittersRCV000239404 RCV001030804 RCV003765485 RCV004701344 RCV004760467

NM_018191.4(RCBTB1):c.1164G>T (p.Leu388Phe)

SNV
Germline

Chr13:49544745

Pathogenic/Likely pathogenic

Retinitis pigmentosa
RCBTB1-related retinopathy

No Assertion Criteria Provided

CA10586160

rs_879255547

2 SubmittersRCV000239603 RCV000258092

NM_018191.4(RCBTB1):c.973C>T (p.His325Tyr)

SNV
Germline

Chr13:49549530

Likely pathogenic

Retinitis pigmentosa
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
Condition: not provided
RCBTB1-related disorder

Criteria Provided
Single Submitter

CA6982724

rs_200826424

4 SubmittersRCV000239605 RCV000258084 RCV001857843 RCV004757981

NM_018191.4(RCBTB1):c.930G>T (p.Trp310Cys)

SNV
Germline

Chr13:49549573

Conflicting classifications of pathogenicity

Retinitis pigmentosa
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6982735

rs_772592456

4 SubmittersRCV000239602 RCV000258140 RCV001090333

NM_018191.4(RCBTB1):c.919G>A (p.Val307Met)

SNV
Germline

Chr13:49549584

Pathogenic/Likely pathogenic

Retinitis pigmentosa
RCBTB1-related retinopathy

No Assertion Criteria Provided

CA6982736

rs_368217569

2 SubmittersRCV000239609 RCV000258120

NM_000883.4(IMPDH1):c.984G>C (p.Gln328His)

SNV
Germline

Chr7:128398504

Pathogenic

Retinitis pigmentosa 10

No Assertion Criteria Provided

CA10586358

rs_886037911

1 SubmittersRCV000240659

NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)

SNV
Germline

Chr1:46194293

Conflicting classifications of pathogenicity

Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833593

rs_200863680

5 SubmittersRCV000240954 RCV001333961 RCV001854940 RCV003479082 RCV003133196

NM_017739.4(POMGNT1):c.466G>A (p.Glu156Lys)

SNV
Germline

Chr1:46195879

Pathogenic

Retinitis pigmentosa 76

No Assertion Criteria Provided

CA10586396

rs_886037947

1 SubmittersRCV000240928

NM_017739.4(POMGNT1):c.1505G>C (p.Gly502Ala)

SNV
Germline

Chr1:46192132

Pathogenic

Retinitis pigmentosa 76

No Assertion Criteria Provided

CA10586397

rs_886037948

1 SubmittersRCV000240894

NM_017739.4(POMGNT1):c.359T>G (p.Leu120Arg)

SNV
Germline

Chr1:46196073

Pathogenic

Retinitis pigmentosa 76

No Assertion Criteria Provided

CA10586398

rs_886037949

1 SubmittersRCV000240931

NM_000322.5(PRPH2):c.801C>T (p.Val267=)

SNV
Germline

Chr6:42704392

Conflicting classifications of pathogenicity

not specified
Pigmentary retinal dystrophy
Patterned macular dystrophy 1
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy
Cone-rod dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3808535

rs_189358082

3 SubmittersRCV000248113 RCV000315389 RCV000336463 RCV000369961 RCV000281424 RCV000391588 RCV000406240 RCV000945845

NM_144596.4(TTC8):c.-25G>A

SNV
Germline

Chr14:88824683

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 8
TTC8-related disorder
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7302283

rs_7145692

2 SubmittersRCV000270079 RCV003891984 RCV000362261

NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)

SNV
Germline

Chr14:88839501

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7302389

rs_114557412

6 SubmittersRCV000253058 RCV000470558 RCV001117604 RCV001117605

NM_144596.4(TTC8):c.669G>A (p.Lys223=)

SNV
Germline

Chr14:88853015

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 8

Criteria Provided
Conflicting Classifications

CA7302555

rs_141304350

5 SubmittersRCV000245276 RCV000372849 RCV000316005 RCV001531819 RCV001094457

NM_144596.4(TTC8):c.1401G>A (p.Pro467=)

SNV
Germline

Chr14:88875079

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
TTC8-related disorder

Criteria Provided
Conflicting Classifications

CA7302749

rs_114064158

4 SubmittersRCV000254174 RCV000307936 RCV000341748 RCV001094321 RCV003891985

NM_014249.4(NR2E3):c.505C>T (p.Leu169=)

SNV
Germline

Chr15:71812110

Conflicting classifications of pathogenicity

not specified
Retinitis Pigmentosa, Recessive
Enhanced S-cone syndrome
Condition: not provided
Retinitis pigmentosa
Goldmann-Favre syndrome

Criteria Provided
Conflicting Classifications

CA7640321

rs_1805022

5 SubmittersRCV000250240 RCV000283298 RCV000380095 RCV000957312 RCV001115237 RCV001275377

NM_031885.5(BBS2):c.367A>G (p.Ile123Val)

SNV
Germline

Chr16:56511263

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 1
Condition: not provided
Retinitis pigmentosa 74
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8066062

rs_11373

12 SubmittersRCV000241605 RCV000261972 RCV000576482 RCV000709672 RCV001706364 RCV001526785 RCV003888665

NM_001297.5(CNGB1):c.159+14C>T

SNV
Germline

Chr16:57967114

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Retinitis pigmentosa 45
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083992

rs_199591689

4 SubmittersRCV000243766 RCV000366543 RCV001001916 RCV001518765

NM_014336.5(AIPL1):c.-17C>A

SNV
Germline

Chr17:6435121

Conflicting classifications of pathogenicity

not specified
Retinitis Pigmentosa, Recessive
Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA8328687

rs_188246267

2 SubmittersRCV000251131 RCV000296424 RCV000325640 RCV000382676

NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)

SNV
Germline

Chr1:197328935

Pathogenic/Likely pathogenic

Condition: not provided
Macular dystrophy
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1311659

rs_764256655

9 SubmittersRCV000255600 RCV000656138 RCV001075823 RCV001040337 RCV001542640 RCV003454774 RCV002500956 RCV003454773

NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter)

SNV
Germline

Chr1:216072910

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395342

rs_751130485

6 SubmittersRCV000255960 RCV001276244 RCV003888668 RCV003475859

NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)

SNV
Germline

Chr1:216247090

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA10588282

rs_886039449

6 SubmittersRCV000255405 RCV001074717 RCV001271235 RCV003454778

NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)

SNV
Germline

Chr1:46194860

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA833669

rs_190057175

10 SubmittersRCV000255207 RCV000695969 RCV000984299 RCV000984296 RCV000984297 RCV000984298 RCV002518761 RCV002500958 RCV003155140 RCV003463717

NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp)

SNV
Germline

Chr1:94042895

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Cone dystrophy

Criteria Provided
Conflicting Classifications

CA10588300

rs_886039300

6 SubmittersRCV000255987 RCV005238805 RCV001075837 RCV001199609

NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)

SNV
Germline

Chr1:94062608

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA10588302

rs_145961131

7 SubmittersRCV000256006 RCV000504776 RCV001075471 RCV005025404 RCV002518745

NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)

SNV
Germline

Chr1:94083372

Conflicting classifications of pathogenicity

Condition: not provided
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA958711

rs_138682163

4 SubmittersRCV000255612 RCV000764206 RCV004542963

NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter)

SNV
Germline

Chr1:94098907

Pathogenic

Condition: not provided
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA10588304

rs_757557272

4 SubmittersRCV000255556 RCV001075801 RCV005025403

NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)

SNV
Germline

Chr8:43193790

Pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Sanfilippo syndrome
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA4736872

rs_753355844

8 SubmittersRCV000255417 RCV000763185 RCV000587936 RCV000665568 RCV005230220

NM_206933.4(USH2A):c.9258+1G>A

SNV
Germline

Chr1:215844293

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394380

rs_748810737

12 SubmittersRCV000256404 RCV000672669 RCV001074509 RCV001091127 RCV002059062

NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)

SNV
Germline

Chr1:216078145

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Condition: not provided
Retinal dystrophy

Reviewed By Expert Panel

CA10588918

rs_886039867

8 SubmittersRCV000256390 RCV000678635 RCV001171534 RCV001240204 RCV001075572

NM_201548.5(CERKL):c.1012C>T (p.Arg338Ter)

SNV
Germline

Chr2:181548741

Pathogenic

Condition: not provided
Retinitis pigmentosa 26
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA2010592

rs_748394238

7 SubmittersRCV000306208 RCV001277030 RCV004816471

NM_014714.4(IFT140):c.1010-1G>A

SNV
Germline

Chr16:1586276

Pathogenic/Likely pathogenic

Condition: not provided
Jeune thoracic dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA7814454

rs_770185023

8 SubmittersRCV000326779 RCV000516131 RCV001055096 RCV002503978 RCV001376438 RCV003155145 RCV005348089

NM_000390.4(CHM):c.757C>T (p.Arg253Ter)

SNV
Germline

ChrX:85958923

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
CHM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10603741

rs_886041178

6 SubmittersRCV000265578 RCV000787565 RCV003888669 RCV004755834

NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)

SNV
Germline

Chr12:88125343

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 4
CEP290-related disorder
Inborn genetic diseases
Leber congenital amaurosis
not specified
Condition: not provided
Kidney disorder
Stuve-Wiedemann syndrome 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA6712623

rs_201988582

14 SubmittersRCV000280320 RCV000342452 RCV000396707 RCV000320212 RCV000637003 RCV000374721 RCV000714822 RCV001265795 RCV001275039 RCV000354111 RCV001580478 RCV002294212 RCV003319345 RCV001589313

NM_001297.5(CNGB1):c.1580C>T (p.Ala527Val)

SNV
Germline

Chr16:57923336

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083387

rs_78292723

3 SubmittersRCV000285588 RCV000340906 RCV001521801

NM_001029883.3(PCARE):c.1215C>T (p.Gly405=)

SNV
Germline

Chr2:29073047

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1592472

rs_754808908

3 SubmittersRCV000330233 RCV000369605

NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)

SNV
Germline

Chr8:54627014

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4751646

rs_35234349

6 SubmittersRCV000313881 RCV000962335 RCV001002272 RCV004955367

NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)

SNV
Germline

Chr1:68444798

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA10603953

rs_886042220

4 SubmittersRCV000288725 RCV004567825 RCV002519096 RCV003765588

NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)

SNV
Germline

Chr15:89211882

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
not specified
Retinal dystrophy
RLBP1-related disorder

Criteria Provided
Conflicting Classifications

CA7722243

rs_142244640

6 SubmittersRCV000300142 RCV000343652 RCV000357376 RCV000399933 RCV002222466 RCV004816478 RCV004732815

NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser)

SNV
Germline

Chr6:64590532

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
EYS-related disorder

Criteria Provided
Conflicting Classifications

CA3877025

rs_186499459

4 SubmittersRCV000356774 RCV001833313 RCV003947838

NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)

SNV
Germline

Chr1:215675337

Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A

Reviewed By Expert Panel

CA1393449

rs_750396156

22 SubmittersRCV000498898 RCV000504963 RCV000675149 RCV001075586 RCV001089679 RCV000678644 RCV004786650

NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln)

SNV
Germline

Chr1:94005475

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957026

rs_767729255

4 SubmittersRCV000291561 RCV002250614 RCV005031851

NM_014249.4(NR2E3):c.205G>A (p.Gly69Ser)

SNV
Germline

Chr15:71811569

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Enhanced S-cone syndrome
NR2E3-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7640242

rs_200102936

6 SubmittersRCV000263332 RCV001119724 RCV001118176 RCV004732817 RCV004816483

NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)

SNV
Germline

Chr1:94077712

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Retinal dystrophy
ABCA4-related disorder
Macular degeneration
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease

Criteria Provided
Conflicting Classifications

CA958501

rs_140482171

11 SubmittersRCV000264059 RCV000270788 RCV000328209 RCV001073584 RCV001102037 RCV000385092 RCV000505101 RCV000512657 RCV000844930

NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg)

SNV
Germline

Chr8:95247720

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 16
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4815119

rs_148114532

4 SubmittersRCV000265472 RCV000376242 RCV000400757 RCV001174660

NM_178857.6(RP1L1):c.3200G>C (p.Gly1067Ala)

SNV
Germline

Chr8:10610898

Conflicting classifications of pathogenicity

Condition: not provided
Occult macular dystrophy
Retinal dystrophy
Occult macular dystrophy
Retinitis pigmentosa 88

Criteria Provided
Conflicting Classifications

CA4624572

rs_201393573

6 SubmittersRCV000331123 RCV001158999 RCV004816489 RCV005429012

NM_206933.4(USH2A):c.14175G>A (p.Trp4725Ter)

SNV
Germline

Chr1:215650760

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA10604605

rs_886042722

2 SubmittersRCV000316815 RCV003463751

NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln)

SNV
Germline

Chr1:26438244

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Retinitis pigmentosa 59

Criteria Provided
Conflicting Classifications

CA705247

rs_149949619

4 SubmittersRCV000297294 RCV000322201 RCV000886316

NM_206933.4(USH2A):c.908G>A (p.Arg303His)

SNV
Germline

Chr1:216325540

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Usher syndrome
Hearing impairment
USH2A-related disorder
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1396646

rs_371777049

18 SubmittersRCV000276147 RCV000666542 RCV001074790 RCV001828199 RCV002229842 RCV000754554 RCV004732821 RCV005008243

NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)

SNV
Germline

Chr16:56497013

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA8065604

rs_201196733

8 SubmittersRCV000424669 RCV000335732 RCV000531316 RCV002502120

NM_001029883.3(PCARE):c.99G>A (p.Gln33=)

SNV
Germline

Chr2:29074163

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1592722

rs_146455733

4 SubmittersRCV000334926 RCV000960229 RCV001143464

NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)

SNV
Germline

Chr5:149931102

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 43
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504944

rs_148938083

7 SubmittersRCV000261042 RCV000725573 RCV000765822 RCV003888675

NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)

SNV
Germline

Chr1:46193580

Conflicting classifications of pathogenicity

Condition: not provided
Muscle eye brain disease
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy
Retinal dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833537

rs_138745073

8 SubmittersRCV000324220 RCV000763934 RCV001855150 RCV002518961 RCV005411399 RCV003888676 RCV005016672

NM_031885.5(BBS2):c.118G>T (p.Val40Phe)

SNV
Germline

Chr16:56514680

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 74
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA10605056

rs_886043059

7 SubmittersRCV000305383 RCV000725618 RCV001075302 RCV002250616 RCV002519177

NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)

SNV
Germline

Chr1:197421010

Pathogenic

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA10605094

rs_115352681

6 SubmittersRCV000322587 RCV000787574 RCV001202291 RCV003454792 RCV003454793

NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)

SNV
Germline

Chr1:216292202

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Usher syndrome

Criteria Provided
Conflicting Classifications

CA10605103

rs_886043096

4 SubmittersRCV000308238 RCV001723872 RCV003323493

NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His)

SNV
Germline

Chr4:15515958

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 6
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA2863530

rs_113371687

5 SubmittersRCV000377738 RCV001146978 RCV001146979 RCV001315399 RCV005025424

NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)

SNV
Germline

Chr6:42721968

Conflicting classifications of pathogenicity

Condition: not provided
Patterned macular dystrophy 1
Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2
PRPH2-related disorder
Cone-rod dystrophy
Pigmentary retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 7

Criteria Provided
Conflicting Classifications

CA3808629

rs_563581127

7 SubmittersRCV000403427 RCV001165007 RCV001165008 RCV001165009 RCV001165010 RCV000791184 RCV001165012 RCV001165011 RCV004816502 RCV004720250

NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr)

SNV
Germline

Chr1:197429581

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1312210

rs_114630940

4 SubmittersRCV000376545 RCV001080703 RCV001275656 RCV003888680

NM_201253.3(CRB1):c.3878+10A>G

SNV
Germline

Chr1:197438685

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA10605364

rs_886043311

2 SubmittersRCV000325162 RCV001395903

NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)

SNV
Germline

Chr1:215900128

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394810

rs_150060240

7 SubmittersRCV000487893 RCV005396887 RCV001196427

NM_002900.3(RBP3):c.1581G>A (p.Pro527=)

SNV
Germline

Chr10:47350065

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA5487490

rs_782233629

3 SubmittersRCV000347622 RCV001106784

NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=)

SNV
Germline

Chr17:1656761

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8271388

rs_147958141

4 SubmittersRCV000293954 RCV000334558 RCV004021202

NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)

SNV
Germline

Chr1:216246935

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396227

rs_34447581

6 SubmittersRCV000339482 RCV000371237 RCV000405347 RCV004816503

NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)

SNV
Germline

Chr1:215900194

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
not specified
Retinal dystrophy
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394829

rs_483353056

8 SubmittersRCV000373313 RCV000504866 RCV000670917 RCV000826074 RCV001073464 RCV001274241

NM_002900.3(RBP3):c.1641G>A (p.Thr547=)

SNV
Germline

Chr10:47350125

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5487471

rs_534717081

4 SubmittersRCV000267203 RCV001106781 RCV003888684

NM_012418.4(FSCN2):c.718G>A (p.Ala240Thr)

SNV
Germline

Chr17:81529249

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 30

Criteria Provided
Conflicting Classifications

CA8836760

rs_370156011

3 SubmittersRCV000340965 RCV001001792

NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)

SNV
Germline

Chr4:664903

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA2794912

rs_150639487

6 SubmittersRCV000277605 RCV000297097 RCV000332675 RCV002286728

NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly)

SNV
Germline

Chr4:15991277

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinitis pigmentosa
Condition: not provided
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA2866581

rs_62617075

6 SubmittersRCV000297319 RCV000303280 RCV000356389 RCV000342856 RCV000390893 RCV004734935

NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys)

SNV
Germline

Chr6:10784484

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis Pigmentosa, Recessive
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3633444

rs_149006687

4 SubmittersRCV000306405 RCV000332343 RCV002521967

NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser)

SNV
Germline

Chr6:65335086

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3877651

rs_145102275

5 SubmittersRCV000297195 RCV001833372

NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)

SNV
Germline

Chr6:63721602

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3876709

rs_144513453

9 SubmittersRCV000333936 RCV000665932 RCV001164471 RCV000965012

NM_003322.6(TULP1):c.846G>A (p.Pro282=)

SNV
Germline

Chr6:35506156

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 15
TULP1-related disorder

Criteria Provided
Conflicting Classifications

CA3772766

rs_149980694

4 SubmittersRCV000271258 RCV000274503 RCV000302940 RCV004734937

NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg)

SNV
Germline

Chr4:47937451

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
CNGA1-related disorder

Criteria Provided
Conflicting Classifications

CA2911149

rs_140419673

4 SubmittersRCV000337492 RCV001147268 RCV003957486

NM_201253.3(CRB1):c.1470C>T (p.Gly490=)

SNV
Germline

Chr1:197421298

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1311926

rs_35193230

4 SubmittersRCV000398958 RCV001083735 RCV001271898

NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=)

SNV
Germline

Chr2:61827181

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
FAM161A-related disorder

Criteria Provided
Conflicting Classifications

CA1678990

rs_369633003

4 SubmittersRCV000301782 RCV000342656 RCV003930136

NM_206933.4(USH2A):c.15520-1G>A

SNV
Germline

Chr1:215625871

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1392633

rs_767265734

8 SubmittersRCV000281832 RCV001000794 RCV001828242 RCV003463769

NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys)

SNV
Germline

Chr1:94078603

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Stargardt disease
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958570

rs_777078540

6 SubmittersRCV000388365 RCV004816512 RCV004586668 RCV005025431

NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)

SNV
Germline

Chr1:94060674

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA958364

rs_575453437

8 SubmittersRCV000329208 RCV001074658 RCV000478104 RCV005025432 RCV004558613

NM_000283.4(PDE6B):c.2504-1G>C

SNV
Germline

Chr4:670045

Conflicting classifications of pathogenicity

Condition: not provided
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2795101

rs_201870319

3 SubmittersRCV000290796 RCV001154419 RCV001154420

NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)

SNV
Germline

Chr1:94043470

Pathogenic/Likely pathogenic

Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA958052

rs_201855602

11 SubmittersRCV001074386 RCV004558614 RCV000412846 RCV001002835 RCV005025438 RCV005252863

NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)

SNV
Germline

Chr4:16018457

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Condition: not provided
Retinal dystrophy
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA2866931

rs_182096110

5 SubmittersRCV000303463 RCV000313919 RCV000361771 RCV000365161 RCV000400435 RCV000950665 RCV003888691 RCV004535428

NM_004183.4(BEST1):c.495G>A (p.Pro165=)

SNV
Germline

Chr11:61956857

Conflicting classifications of pathogenicity

Vitelliform macular dystrophy 2
Retinitis pigmentosa
not specified
Autosomal dominant vitreoretinochoroidopathy
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6040767

rs_182941675

4 SubmittersRCV000349792 RCV000314904 RCV000396611 RCV000398400 RCV000919864 RCV003888693

NM_006915.3(RP2):c.30G>A (p.Lys10=)

SNV
Germline

ChrX:46837130

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10394161

rs_782402689

4 SubmittersRCV000263023 RCV000369714

NM_006017.3(PROM1):c.2271C>T (p.Ile757=)

SNV
Germline

Chr4:15985769

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinitis pigmentosa
Condition: not provided
Cone-rod dystrophy 12
Retinal macular dystrophy type 2

Criteria Provided
Conflicting Classifications

CA2866459

rs_375986111

3 SubmittersRCV000288468 RCV000352868 RCV000386501 RCV000390492 RCV000401506

NM_201253.3(CRB1):c.2103C>G (p.Pro701=)

SNV
Germline

Chr1:197421931

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312032

rs_144436610

7 SubmittersRCV000313740 RCV000363592 RCV000585260 RCV000407701 RCV001833395 RCV001082136

NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys)

SNV
Germline

Chr1:197427597

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA1312087

rs_201700675

4 SubmittersRCV000371225 RCV001067120 RCV005008261 RCV001828271

NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)

SNV
Germline

Chr1:46196816

Conflicting classifications of pathogenicity

Muscle eye brain disease
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA833803

rs_139701867

7 SubmittersRCV000763938 RCV001275757 RCV000407599 RCV000524954 RCV002518127

NM_177965.4(CFAP418):c.126G>C (p.Arg42=)

SNV
Germline

Chr8:95269064

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy 16

Criteria Provided
Conflicting Classifications

CA4815269

rs_115853053

5 SubmittersRCV000322042 RCV000883271 RCV001169700 RCV001169701

NM_201548.5(CERKL):c.1347T>A (p.Tyr449Ter)

SNV
Germline

Chr2:181544718

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA10606979

rs_770284500

3 SubmittersRCV000340734 RCV003469250

NM_001142800.2(EYS):c.5645-8C>T

SNV
Germline

Chr6:64439360

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA10606981

rs_886044616

3 SubmittersRCV000345112 RCV005614400

NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)

SNV
Germline

Chr4:15537003

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Inborn genetic diseases
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863732

rs_201954181

6 SubmittersRCV000335348 RCV001149502 RCV001248140 RCV001149503 RCV002487294 RCV002518166 RCV004537623

NM_004698.4(PRPF3):c.780G>A (p.Glu260=)

SNV
Germline

Chr1:150334986

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
PRPF3-related disorder

Criteria Provided
Conflicting Classifications

CA1075498

rs_80201355

3 SubmittersRCV000280976 RCV000909237 RCV003920179

NM_022367.4(SEMA4A):c.90C>T (p.Thr30=)

SNV
Germline

Chr1:156154668

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-rod dystrophy 10
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1154897

rs_373565051

2 SubmittersRCV000302172 RCV000391999 RCV001425469 RCV001097419

NM_022367.4(SEMA4A):c.95G>T (p.Gly32Val)

SNV
Germline

Chr1:156154673

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-rod dystrophy 10
Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1154904

rs_577740555

3 SubmittersRCV000262251 RCV000356964 RCV001097420 RCV002519397 RCV004021360

NM_022367.4(SEMA4A):c.405T>C (p.Asn135=)

SNV
Germline

Chr1:156158429

Conflicting classifications of pathogenicity

Cone-rod dystrophy 10
Retinitis Pigmentosa, Recessive
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1155026

rs_56271605

3 SubmittersRCV000317466 RCV000370666 RCV000904489 RCV001097514

NM_022367.4(SEMA4A):c.492C>T (p.Ile164=)

SNV
Germline

Chr1:156158748

Conflicting classifications of pathogenicity

Cone-rod dystrophy 10
Retinitis Pigmentosa, Recessive
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1155055

rs_562037528

2 SubmittersRCV000276083 RCV000331109 RCV000894976 RCV001097515

NM_022367.4(SEMA4A):c.1215G>T (p.Thr405=)

SNV
Germline

Chr1:156172906

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-rod dystrophy 10
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1155305

rs_151260330

2 SubmittersRCV000299558 RCV000335772 RCV000910537 RCV001095826

NM_022367.4(SEMA4A):c.1694-13C>G

SNV
Germline

Chr1:156176392

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-rod dystrophy 10
not specified
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1155446

rs_144540956

3 SubmittersRCV000311723 RCV000366210 RCV001002564 RCV001099383 RCV001519737

NM_022367.4(SEMA4A):c.2106C>T (p.Leu702=)

SNV
Germline

Chr1:156176817

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-rod dystrophy 10
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1155523

rs_772147085

2 SubmittersRCV000268481 RCV000381397 RCV001432135 RCV001101370

NM_022367.4(SEMA4A):c.*188G>T

SNV
Germline

Chr1:156177185

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-rod dystrophy 10
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10607830

rs_117762142

1 SubmittersRCV000316223 RCV000373249 RCV001101484

NM_022367.4(SEMA4A):c.*366G>A

SNV
Germline

Chr1:156177363

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-rod dystrophy 10
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10607831

rs_577699691

1 SubmittersRCV000295259 RCV000352124 RCV001101489

NM_004698.4(PRPF3):c.1526+14G>T

SNV
Germline

Chr1:150344275

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1075648

rs_376006808

2 SubmittersRCV000351132 RCV003765696

NM_004698.4(PRPF3):c.1851G>A (p.Glu617=)

SNV
Germline

Chr1:150349164

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1075725

rs_782390597

2 SubmittersRCV000292447 RCV001438853

NM_004698.4(PRPF3):c.1317T>C (p.Tyr439=)

SNV
Germline

Chr1:150343343

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1075610

rs_782312050

2 SubmittersRCV000371930 RCV002059324

NM_022367.4(SEMA4A):c.2187G>A (p.Pro729=)

SNV
Germline

Chr1:156176898

Conflicting classifications of pathogenicity

Cone-rod dystrophy 10
Retinitis Pigmentosa, Recessive
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1155546

rs_41265019

3 SubmittersRCV000312105 RCV000348321 RCV001097713 RCV001515094

NM_022367.4(SEMA4A):c.810+7G>A

SNV
Germline

Chr1:156161036

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-rod dystrophy 10
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10608336

rs_568949451

2 SubmittersRCV000327816 RCV000382298 RCV000908374 RCV001099276

NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=)

SNV
Germline

Chr1:156163046

Conflicting classifications of pathogenicity

Cone-rod dystrophy 10
Retinitis Pigmentosa, Recessive
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1155264

rs_145993678

3 SubmittersRCV000287979 RCV000342453 RCV000595492 RCV001101272

NM_201253.3(CRB1):c.1172-15T>A

SNV
Germline

Chr1:197420985

Conflicting classifications of pathogenicity

Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis Pigmentosa, Recessive

Criteria Provided
Conflicting Classifications

CA1311873

rs_375141011

2 SubmittersRCV000304813 RCV000336321 RCV001491386 RCV000401040

NM_201253.3(CRB1):c.2419C>T (p.Leu807=)

SNV
Germline

Chr1:197427744

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1312121

rs_371089348

2 SubmittersRCV000306210 RCV000391747 RCV000951208 RCV000359746

NM_201253.3(CRB1):c.3878+15A>T

SNV
Germline

Chr1:197438690

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312424

rs_200217112

2 SubmittersRCV000279430 RCV000336749 RCV000400725 RCV001444410

NM_201253.3(CRB1):c.*393T>C

SNV
Germline

Chr1:197478272

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10608732

rs_147966959

1 SubmittersRCV000288696 RCV000351854 RCV000393295

NM_014053.4(FLVCR1):c.738+9T>C

SNV
Germline

Chr1:212859199

Conflicting classifications of pathogenicity

Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided
not specified
FLVCR1-related disorder

Criteria Provided
Conflicting Classifications

CA1385937

rs_41296696

6 SubmittersRCV000299297 RCV000517649 RCV001698584 RCV003967836

NM_014053.4(FLVCR1):c.1521A>G (p.Leu507=)

SNV
Germline

Chr1:212889253

Conflicting classifications of pathogenicity

Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1386164

rs_74607124

3 SubmittersRCV000384014 RCV001452302 RCV004999255

NM_206933.4(USH2A):c.3177G>A (p.Pro1059=)

SNV
Germline

Chr1:216207412

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1396059

rs_767648070

2 SubmittersRCV000328804 RCV001495406 RCV000383428

NM_206933.4(USH2A):c.3157+12C>T

SNV
Germline

Chr1:216217375

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396084

rs_199853422

3 SubmittersRCV000288109 RCV000326688 RCV004800378 RCV001509796

NM_206933.4(USH2A):c.1539C>T (p.Thr513=)

SNV
Germline

Chr1:216323485

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1396495

rs_199939890

4 SubmittersRCV000278735 RCV001172230 RCV000375855

NM_206933.4(USH2A):c.486-15C>T

SNV
Germline

Chr1:216418694

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
USH2A-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396772

rs_114194722

7 SubmittersRCV000292417 RCV000389034 RCV004537640 RCV000606338 RCV001520242

NM_014053.4(FLVCR1):c.981C>T (p.Asn327=)

SNV
Germline

Chr1:212872775

Conflicting classifications of pathogenicity

Condition: not provided
Posterior column ataxia-retinitis pigmentosa syndrome

Criteria Provided
Conflicting Classifications

CA10609078

rs_886045928

2 SubmittersRCV001408048 RCV000361834

NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)

SNV
Germline

Chr1:216199906

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1395972

rs_372081834

12 SubmittersRCV000356379 RCV000611914 RCV000943840 RCV000394505 RCV001578966

NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser)

SNV
Germline

Chr1:216200118

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
USH2A-related disorder
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1396011

rs_146372677

6 SubmittersRCV000277125 RCV000332273 RCV000908710 RCV004537639 RCV005396920

NM_206933.4(USH2A):c.1789C>A (p.His597Asn)

SNV
Germline

Chr1:216292226

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Retinitis pigmentosa-deafness syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396404

rs_201127450

2 SubmittersRCV000322788 RCV000376961 RCV001431571

NM_201253.3(CRB1):c.1172-12A>G

SNV
Germline

Chr1:197420988

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1311875

rs_146175509

2 SubmittersRCV000301371 RCV000355365 RCV000402144 RCV002519468

NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser)

SNV
Germline

Chr1:197427550

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Leber congenital amaurosis
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312077

rs_140494140

3 SubmittersRCV000266368 RCV001828286 RCV000360994 RCV001242513

NM_201253.3(CRB1):c.2230C>A (p.Arg744=)

SNV
Germline

Chr1:197427555

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 8
not specified
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1312078

rs_150412614

6 SubmittersRCV000281831 RCV000317013 RCV000418233 RCV000371666 RCV001073755 RCV000945740 RCV002292503

NM_201253.3(CRB1):c.2843-13C>T

SNV
Germline

Chr1:197434693

Conflicting classifications of pathogenicity

Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312233

rs_199808176

2 SubmittersRCV000291108 RCV000346171 RCV000380917 RCV001517111

NM_201253.3(CRB1):c.3228T>C (p.Asp1076=)

SNV
Germline

Chr1:197435091

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1312297

rs_780576185

3 SubmittersRCV000274993 RCV000313687 RCV000370799 RCV000952421 RCV003888698

NM_201253.3(CRB1):c.3397G>A (p.Val1133Met)

SNV
Germline

Chr1:197435260

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Hereditary macular dystrophy
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312328

rs_116246250

3 SubmittersRCV000269228 RCV005355620 RCV000326351 RCV000383308 RCV000945327

NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)

SNV
Germline

Chr1:197344292

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
CRB1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1311688

rs_114846212

8 SubmittersRCV000285066 RCV000347681 RCV003888696 RCV000384124 RCV001271894 RCV003454863 RCV000945440 RCV004537638 RCV004567846

NM_201253.3(CRB1):c.1752C>T (p.Asp584=)

SNV
Germline

Chr1:197421580

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1311978

rs_750442312

4 SubmittersRCV000334922 RCV000400239 RCV000893286 RCV000279892 RCV001833418 RCV003888697

NM_201253.3(CRB1):c.2010T>C (p.Cys670=)

SNV
Germline

Chr1:197421838

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Conflicting Classifications

CA1312017

rs_201949837

2 SubmittersRCV000293851 RCV001435530 RCV000348791 RCV000401010

NM_201253.3(CRB1):c.2307C>T (p.Arg769=)

SNV
Germline

Chr1:197427632

Conflicting classifications of pathogenicity

Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Leber congenital amaurosis 8
not specified
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312096

rs_151104285

8 SubmittersRCV000289291 RCV000352667 RCV000398025 RCV000423844 RCV000878020 RCV001699429 RCV001828287

NM_201253.3(CRB1):c.3695A>G (p.His1232Arg)

SNV
Germline

Chr1:197435558

Conflicting classifications of pathogenicity

Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Hereditary macular dystrophy

Criteria Provided
Conflicting Classifications

CA1312377

rs_142090517

4 SubmittersRCV000272687 RCV000320691 RCV000377313 RCV000964610 RCV003888699 RCV005355621

NM_201253.3(CRB1):c.3750-3T>C

SNV
Germline

Chr1:197438544

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312396

rs_187937543

3 SubmittersRCV000285227 RCV000371471 RCV000342421 RCV000994219 RCV001239382

NM_014053.4(FLVCR1):c.42C>T (p.Pro14=)

SNV
Germline

Chr1:212858494

Conflicting classifications of pathogenicity

Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10609673

rs_886045923

2 SubmittersRCV000396022 RCV001501145

NM_014053.4(FLVCR1):c.952G>A (p.Glu318Lys)

SNV
Germline

Chr1:212872746

Conflicting classifications of pathogenicity

Posterior column ataxia-retinitis pigmentosa syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1386005

rs_41297444

4 SubmittersRCV000266137 RCV001642907 RCV000516759

NM_014053.4(FLVCR1):c.1059G>A (p.Thr353=)

SNV
Germline

Chr1:212883405

Conflicting classifications of pathogenicity

Posterior column ataxia-retinitis pigmentosa syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1386038

rs_550517136

3 SubmittersRCV000269781 RCV001660569 RCV002059426

NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala)

SNV
Germline

Chr1:212895279

Conflicting classifications of pathogenicity

Condition: not provided
Posterior column ataxia-retinitis pigmentosa syndrome
Retinal dystrophy
Inborn genetic diseases
FLVCR1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1386229

rs_149887215

10 SubmittersRCV000422945 RCV000387027 RCV001074738 RCV002519488 RCV003930223 RCV004999256

NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)

SNV
Germline

Chr1:216175434

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1395708

rs_200790812

7 SubmittersRCV000265612 RCV000378867 RCV000840094 RCV004021420

NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr)

SNV
Germline

Chr1:216175467

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1395711

rs_369357349

2 SubmittersRCV000280684 RCV000335820 RCV001470224

NM_206933.4(USH2A):c.3342C>T (p.Asp1114=)

SNV
Germline

Chr1:216200096

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1396007

rs_755765979

2 SubmittersRCV000298283 RCV002059427 RCV000353037

NM_206933.4(USH2A):c.849-4A>G

SNV
Germline

Chr1:216325603

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10609873

rs_765189933

2 SubmittersRCV000261571 RCV000358742 RCV001443214

NM_206933.4(USH2A):c.126C>T (p.Asn42=)

SNV
Germline

Chr1:216422211

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396852

rs_774473277

2 SubmittersRCV000402756 RCV000285688 RCV001430541

NM_205861.3(DHDDS):c.*128C>G

SNV
Germline

Chr1:26469259

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10610029

rs_146706631

3 SubmittersRCV000406054 RCV003221893

NM_000329.3(RPE65):c.1243+10T>C

SNV
Germline

Chr1:68431461

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Conflicting Classifications

CA902243

rs_548537552

3 SubmittersRCV000287911 RCV000352172 RCV000923552 RCV001196851

NM_000350.3(ABCA4):c.*136G>A

SNV
Germline

Chr1:93993101

Conflicting classifications of pathogenicity

Macular degeneration
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10610441

rs_55665437

2 SubmittersRCV000310088 RCV000348599 RCV000393813 RCV000403289 RCV001096131 RCV001672414

NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met)

SNV
Germline

Chr1:94001048

Conflicting classifications of pathogenicity

Macular degeneration
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Condition: not provided
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA956899

rs_202127235

5 SubmittersRCV000294673 RCV000315923 RCV000349548 RCV000389153 RCV001424033 RCV001099679 RCV003888704

NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile)

SNV
Germline

Chr1:94021333

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
Stargardt Disease, Recessive
Condition: not provided
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957429

rs_114518437

4 SubmittersRCV000301076 RCV000340669 RCV000353628 RCV000393458 RCV000486564 RCV001101750 RCV001075649

NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=)

SNV
Germline

Chr1:94025010

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA957556

rs_138831474

3 SubmittersRCV000310399 RCV000350024 RCV000362798 RCV000406989 RCV000488110 RCV001096332

NM_000350.3(ABCA4):c.3607+13C>T

SNV
Germline

Chr1:94040030

Conflicting classifications of pathogenicity

Macular degeneration
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957886

rs_374630957

2 SubmittersRCV000289560 RCV000293111 RCV000352695 RCV000388512 RCV001101856 RCV002059507

NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg)

SNV
Germline

Chr1:94042883

Conflicting classifications of pathogenicity

Macular degeneration
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA958009

rs_775661924

2 SubmittersRCV000283211 RCV000342791 RCV000346419 RCV000377692 RCV001098163 RCV003718155

NM_000350.3(ABCA4):c.2517C>T (p.Ser839=)

SNV
Germline

Chr1:94055181

Conflicting classifications of pathogenicity

Macular degeneration
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
ABCA4-related disorder
Stargardt Disease, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA958253

rs_138246242

2 SubmittersRCV000289234 RCV000346485 RCV000401706 RCV001096534 RCV000401493 RCV001472118

NM_000350.3(ABCA4):c.791G>A (p.Arg264His)

SNV
Germline

Chr1:94083419

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Condition: not provided
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958722

rs_567985213

4 SubmittersRCV000286376 RCV000334279 RCV000393402 RCV000402094 RCV001241582 RCV002522135 RCV003888708

NM_000329.3(RPE65):c.267C>T (p.Tyr89=)

SNV
Germline

Chr1:68444862

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

CA902554

rs_372620785

2 SubmittersRCV000271691 RCV000384862 RCV001419413

NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=)

SNV
Germline

Chr1:94014597

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957287

rs_202199507

3 SubmittersRCV000262810 RCV000302869 RCV000355388 RCV000403051 RCV001099764 RCV002059506

NM_000350.3(ABCA4):c.4848+13T>C

SNV
Germline

Chr1:94021627

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957455

rs_374196141

3 SubmittersRCV000273593 RCV000314153 RCV000371133 RCV000404481 RCV001101751 RCV001413399

NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr)

SNV
Germline

Chr1:94030524

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Macular degeneration
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
not specified
Retinal dystrophy
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957663

rs_142673376

5 SubmittersRCV000306201 RCV000345844 RCV000358611 RCV000408394 RCV000603618 RCV001074568 RCV001098066 RCV001515591

NM_205861.3(DHDDS):c.468C>T (p.Tyr156=)

SNV
Germline

Chr1:26447586

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 59

Criteria Provided
Conflicting Classifications

CA705351

rs_768075911

2 SubmittersRCV000263611 RCV002059478

NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=)

SNV
Germline

Chr1:94031055

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
ABCA4-related disorder
Stargardt Disease, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957691

rs_763857670

2 SubmittersRCV000284073 RCV000342444 RCV000400653 RCV001098070 RCV000285098 RCV002520512

NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=)

SNV
Germline

Chr1:94036771

Conflicting classifications of pathogenicity

Macular degeneration
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA957811

rs_75092434

3 SubmittersRCV000314607 RCV000349406 RCV000369258 RCV000406947 RCV000882442 RCV001099865

NM_000350.3(ABCA4):c.2744-5C>T

SNV
Germline

Chr1:94047098

Conflicting classifications of pathogenicity

Macular degeneration
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA958166

rs_76305791

2 SubmittersRCV000263987 RCV000323753 RCV000358873 RCV000360065 RCV000897416 RCV001101953

NM_205861.3(DHDDS):c.990T>C (p.Thr330=)

SNV
Germline

Chr1:26469119

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 59

Criteria Provided
Conflicting Classifications

CA705510

rs_773902080

3 SubmittersRCV000294598 RCV000883330

NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp)

SNV
Germline

Chr2:111982958

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1831307

rs_142985827

6 SubmittersRCV000289934 RCV000729320 RCV004816572

NM_000329.3(RPE65):c.683A>C (p.Gln228Pro)

SNV
Germline

Chr1:68439603

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10611418

rs_886046510

3 SubmittersRCV000265981 RCV000321010 RCV003888702

NM_000350.3(ABCA4):c.*299G>C

SNV
Germline

Chr1:93992938

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Macular degeneration
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA10611611

rs_538804441

1 SubmittersRCV000261694 RCV000283953 RCV000319142 RCV000376091 RCV001096126

NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro)

SNV
Germline

Chr1:94000899

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA10611614

rs_761867791

2 SubmittersRCV000374572 RCV000280073 RCV000319805 RCV000264727 RCV001380600 RCV001099678

NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=)

SNV
Germline

Chr1:94010802

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Macular degeneration
Cone-Rod Dystrophy, Recessive
Condition: not provided
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957176

rs_191506332

5 SubmittersRCV000266769 RCV000269853 RCV000306349 RCV000361052 RCV000922637 RCV001096232 RCV003888705

NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=)

SNV
Germline

Chr1:94025015

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957557

rs_774957381

2 SubmittersRCV000264287 RCV000270263 RCV000304270 RCV000361271 RCV001096333 RCV001466055

NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys)

SNV
Germline

Chr1:94040103

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
Condition: not provided
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA957897

rs_75267647

5 SubmittersRCV000261992 RCV000297212 RCV000331144 RCV000356767 RCV000894101 RCV001073731 RCV001096426

NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=)

SNV
Germline

Chr1:94043463

Conflicting classifications of pathogenicity

Macular degeneration
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10611639

rs_886046565

2 SubmittersRCV000298413 RCV000334643 RCV000392686 RCV000399846 RCV001098167 RCV002520514

NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys)

SNV
Germline

Chr1:94078627

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
Retinal dystrophy
Condition: not provided
ABCA4-related disorder
Cone-Rod Dystrophy, Recessive
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958572

rs_770439859

5 SubmittersRCV000330893 RCV000295678 RCV000343633 RCV004816525 RCV000523526 RCV001102042 RCV000387710 RCV005429014

NM_000350.3(ABCA4):c.1240-8G>C

SNV
Germline

Chr1:94078714

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA958582

rs_185225547

3 SubmittersRCV000262287 RCV000319666 RCV000354740 RCV000367371 RCV000971845 RCV001096638

NM_000350.3(ABCA4):c.468C>T (p.Ile156=)

SNV
Germline

Chr1:94103117

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Macular degeneration
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA958825

rs_148091207

3 SubmittersRCV000262244 RCV000275189 RCV000330288 RCV000375450 RCV000902561 RCV001100154

NM_000350.3(ABCA4):c.5197-4C>T

SNV
Germline

Chr1:94015858

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
Stargardt Disease, Recessive
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957349

rs_758825834

2 SubmittersRCV000275813 RCV000315617 RCV000330641 RCV000354180 RCV001099768 RCV001850573

NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu)

SNV
Germline

Chr1:94029452

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
ABCA4-related disorder
Macular degeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10611712

rs_886046564

2 SubmittersRCV000374011 RCV000263027 RCV000315841 RCV001096335 RCV000321629 RCV002520511

NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=)

SNV
Germline

Chr1:94031856

Conflicting classifications of pathogenicity

Macular degeneration
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Condition: not provided
ABCA4-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA957737

rs_141004967

7 SubmittersRCV000297155 RCV000354394 RCV000337011 RCV000392768 RCV000909683 RCV001099859 RCV001699431

NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)

SNV
Germline

Chr1:94077722

Conflicting classifications of pathogenicity

Macular degeneration
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis Pigmentosa, Recessive
Retinal dystrophy
Retinitis pigmentosa
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA958507

rs_138157885

7 SubmittersRCV000286324 RCV001303441 RCV001590914 RCV000378419 RCV001073691 RCV003323503 RCV005252868

NM_000350.3(ABCA4):c.1155C>T (p.Ile385=)

SNV
Germline

Chr1:94079406

Conflicting classifications of pathogenicity

Macular degeneration
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Condition: not provided
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA958623

rs_376624031

5 SubmittersRCV000292103 RCV000326953 RCV000339971 RCV000383912 RCV000907632 RCV001075141 RCV004537688

NM_000350.3(ABCA4):c.741C>T (p.Asn247=)

SNV
Germline

Chr1:94098821

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Macular degeneration
ABCA4-related disorder
Condition: not provided
Late-onset cone-rod dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA958756

rs_372976742

4 SubmittersRCV000299375 RCV000312349 RCV000337928 RCV000401167 RCV001098365 RCV002059509 RCV005418066 RCV005418065

NM_201548.5(CERKL):c.1073+11T>C

SNV
Germline

Chr2:181548669

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2010584

rs_186100602

2 SubmittersRCV000285254 RCV001509950

NM_006343.3(MERTK):c.21G>T (p.Pro7=)

SNV
Germline

Chr2:111898756

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1830944

rs_752112582

2 SubmittersRCV000310645 RCV001478979

NM_006343.3(MERTK):c.138C>G (p.Asp46Glu)

SNV
Germline

Chr2:111929196

Conflicting classifications of pathogenicity

Retinitis pigmentosa
MERTK-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1830985

rs_527694612

3 SubmittersRCV000305032 RCV003957700 RCV001410430

NM_006343.3(MERTK):c.1960+8C>T

SNV
Germline

Chr2:112008483

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1831595

rs_112541306

5 SubmittersRCV000274981 RCV000894697 RCV001699459

NM_006343.3(MERTK):c.2028C>T (p.Tyr676=)

SNV
Germline

Chr2:112010015

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831643

rs_56225811

3 SubmittersRCV000332356 RCV000757464

NM_006343.3(MERTK):c.2142G>C (p.Leu714=)

SNV
Germline

Chr2:112019475

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831722

rs_200363872

3 SubmittersRCV000383593 RCV001429313

NM_006343.3(MERTK):c.773C>A (p.Ala258Glu)

SNV
Germline

Chr2:111965206

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831170

rs_35252762

3 SubmittersRCV000330591 RCV000594801

NM_006343.3(MERTK):c.960+9C>A

SNV
Germline

Chr2:111968261

Conflicting classifications of pathogenicity

MERTK-related disorder
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1831231

rs_373198570

4 SubmittersRCV003950138 RCV000596593 RCV000352605

NM_006343.3(MERTK):c.996C>G (p.Val332=)

SNV
Germline

Chr2:111975324

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10611902

rs_886054757

2 SubmittersRCV002057558 RCV000382076

NM_006343.3(MERTK):c.1262G>A (p.Arg421Gln)

SNV
Germline

Chr2:111982959

Conflicting classifications of pathogenicity

Retinitis pigmentosa
MERTK-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831308

rs_138908058

3 SubmittersRCV000347356 RCV004730935 RCV001417923

NM_006343.3(MERTK):c.1405G>T (p.Val469Phe)

SNV
Germline

Chr2:111994359

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831377

rs_79943145

4 SubmittersRCV000302738 RCV001074749 RCV001299809

NM_201548.5(CERKL):c.900T>C (p.His300=)

SNV
Germline

Chr2:181548853

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2010614

rs_183252158

6 SubmittersRCV000342680 RCV000597622 RCV001700065

NM_201548.5(CERKL):c.313C>T (p.Arg105Trp)

SNV
Germline

Chr2:181604005

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

CA2010869

rs_149078111

7 SubmittersRCV000276396 RCV000614379 RCV000886395 RCV003888786 RCV004703813

NM_201548.5(CERKL):c.15G>A (p.Arg5=)

SNV
Germline

Chr2:181656992

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

CA2010976

rs_762405291

3 SubmittersRCV000278526 RCV000902151 RCV001833462

NM_144631.6(ZNF513):c.1260C>T (p.Leu420=)

SNV
Germline

Chr2:27377911

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Dominant
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1577833

rs_112828880

2 SubmittersRCV000381347 RCV001137870 RCV000884170

NM_001029883.3(PCARE):c.*2562G>C

SNV
Germline

Chr2:29062307

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613084

rs_188247308

2 SubmittersRCV000352443 RCV003422310

NM_001029883.3(PCARE):c.*1425C>T

SNV
Germline

Chr2:29063444

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613095

rs_114274497

2 SubmittersRCV000360585 RCV002263609

NM_001029883.3(PCARE):c.3658G>A (p.Gly1220Ser)

SNV
Germline

Chr2:29070604

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1591870

rs_554321432

2 SubmittersRCV000282618 RCV002057690

NM_001029883.3(PCARE):c.2965C>G (p.Pro989Ala)

SNV
Germline

Chr2:29071297

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1592068

rs_184281410

3 SubmittersRCV000308438 RCV001509946 RCV003888794

NM_001029883.3(PCARE):c.1740G>A (p.Thr580=)

SNV
Germline

Chr2:29072522

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1592364

rs_546110503

2 SubmittersRCV000287497 RCV003422311

NM_001029883.3(PCARE):c.867C>T (p.Thr289=)

SNV
Germline

Chr2:29073395

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1592549

rs_199729963

2 SubmittersRCV000333857 RCV000926636

NM_001029883.3(PCARE):c.645G>A (p.Leu215=)

SNV
Germline

Chr2:29073617

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1592609

rs_374663422

2 SubmittersRCV000294870 RCV001439042

NM_001029883.3(PCARE):c.459G>A (p.Thr153=)

SNV
Germline

Chr2:29073803

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1592646

rs_372665350

2 SubmittersRCV000281807 RCV001467295

NM_201548.5(CERKL):c.1500T>C (p.Asp500=)

SNV
Germline

Chr2:181539130

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
CERKL-related disorder

Criteria Provided
Conflicting Classifications

CA2010409

rs_141656965

3 SubmittersRCV000339011 RCV001466695 RCV004755883

NM_201548.5(CERKL):c.735G>C (p.Leu245=)

SNV
Germline

Chr2:181558651

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 26
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2010673

rs_140898616

7 SubmittersRCV000400556 RCV000625303 RCV000593769

NM_001029883.3(PCARE):c.3705G>A (p.Pro1235=)

SNV
Germline

Chr2:29065031

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1591846

rs_191767954

3 SubmittersRCV000379618 RCV001438586

NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)

SNV
Germline

Chr2:61826542

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 28
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1678948

rs_138464813

7 SubmittersRCV000336675 RCV000625246 RCV000734472 RCV001700069

NM_001201543.2(FAM161A):c.1989C>T (p.Val663=)

SNV
Germline

Chr2:61827121

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 28

Criteria Provided
Conflicting Classifications

CA1678981

rs_201362403

3 SubmittersRCV000394033 RCV000923299 RCV001274208

NM_001201543.2(FAM161A):c.354G>T (p.Gln118His)

SNV
Germline

Chr2:61842190

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1679384

rs_140622968

3 SubmittersRCV000388264 RCV000733680

NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=)

SNV
Germline

Chr2:96283570

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
SNRNP200-related disorder

Criteria Provided
Conflicting Classifications

CA1778153

rs_377641548

4 SubmittersRCV000339024 RCV000597447 RCV004757209

NM_014014.5(SNRNP200):c.4448G>A (p.Arg1483Gln)

SNV
Germline

Chr2:96283949

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1778207

rs_779888644

2 SubmittersRCV000299595 RCV005055900

NM_014014.5(SNRNP200):c.4056G>A (p.Thr1352=)

SNV
Germline

Chr2:96285288

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1778309

rs_758645617

2 SubmittersRCV000369636 RCV001369757

NM_014014.5(SNRNP200):c.3744C>T (p.Asp1248=)

SNV
Germline

Chr2:96286773

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1778389

rs_750593383

2 SubmittersRCV000311476 RCV002519994

NM_014014.5(SNRNP200):c.651C>T (p.Tyr217=)

SNV
Germline

Chr2:96299407

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1779120

rs_147219591

2 SubmittersRCV000268539 RCV001498030

NM_014014.5(SNRNP200):c.93C>T (p.Thr31=)

SNV
Germline

Chr2:96304821

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10614233

rs_886056468

2 SubmittersRCV001451750 RCV000372051

NM_001201543.2(FAM161A):c.*1100T>C

SNV
Germline

Chr2:61825355

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1678858

rs_78512710

2 SubmittersRCV000354457 RCV003437073

NM_016247.4(IMPG2):c.3561C>T (p.Ser1187=)

SNV
Germline

Chr3:101229452

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2518726

rs_139496326

3 SubmittersRCV000385023 RCV000907342 RCV003888817

NM_016247.4(IMPG2):c.3503C>G (p.Ala1168Gly)

SNV
Germline

Chr3:101229510

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2518734

rs_201519517

2 SubmittersRCV000288559 RCV002057814

NM_016247.4(IMPG2):c.2431T>G (p.Ser811Ala)

SNV
Germline

Chr3:101243900

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
IMPG2-related disorder

Criteria Provided
Conflicting Classifications

CA2518978

rs_76048775

5 SubmittersRCV000302368 RCV001058248 RCV003888819 RCV004757213

NM_016247.4(IMPG2):c.1382C>G (p.Thr461Arg)

SNV
Germline

Chr3:101245963

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
IMPG2-related disorder

Criteria Provided
Conflicting Classifications

CA2519176

rs_201905772

5 SubmittersRCV000389498 RCV000980050 RCV003888820 RCV003972442

NM_016247.4(IMPG2):c.335-13C>T

SNV
Germline

Chr3:101304325

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2519497

rs_201277460

2 SubmittersRCV000339456 RCV001519735

NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=)

SNV
Germline

Chr2:96275054

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1777724

rs_61753580

4 SubmittersRCV000343558 RCV000591814

NM_014014.5(SNRNP200):c.4678A>G (p.Ile1560Val)

SNV
Germline

Chr2:96283620

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1778160

rs_78715863

3 SubmittersRCV000403123 RCV001060574 RCV003278777

NM_016247.4(IMPG2):c.2800T>C (p.Leu934=)

SNV
Germline

Chr3:101243531

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2518919

rs_764443272

2 SubmittersRCV000298993 RCV001438333

NM_016247.4(IMPG2):c.887+10C>T

SNV
Germline

Chr3:101269505

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2519343

rs_767130055

2 SubmittersRCV000335959 RCV001406715

NM_016247.4(IMPG2):c.57G>C (p.Leu19=)

SNV
Germline

Chr3:101320316

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2519576

rs_188916371

2 SubmittersRCV000308609 RCV001521271

NM_000541.5(SAG):c.-223C>G

SNV
Germline

Chr2:233307828

Conflicting classifications of pathogenicity

Oguchi disease
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10614879

rs_140569105

1 SubmittersRCV000287720 RCV000326400

NM_000541.5(SAG):c.*90G>A

SNV
Germline

Chr2:233347002

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Oguchi disease

Criteria Provided
Conflicting Classifications

CA10614881

rs_143418950

1 SubmittersRCV000261332 RCV000369955

NM_001029883.3(PCARE):c.2991G>A (p.Thr997=)

SNV
Germline

Chr2:29071271

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1592059

rs_528901190

2 SubmittersRCV000404365 RCV001504716

NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys)

SNV
Germline

Chr2:29072680

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 54
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1592393

rs_80151896

4 SubmittersRCV000339383 RCV001282964 RCV000757047 RCV003888797

NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)

SNV
Germline

Chr2:29072965

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 54
not specified
Condition: not provided
PCARE-related disorder

Criteria Provided
Conflicting Classifications

CA1592458

rs_200696965

8 SubmittersRCV000355654 RCV000765664 RCV000489456 RCV000766629 RCV003922450

NM_001029883.3(PCARE):c.102C>T (p.Gly34=)

SNV
Germline

Chr2:29074160

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1592721

rs_149915190

3 SubmittersRCV000948594 RCV000407783 RCV003888802

NM_001029883.3(PCARE):c.2803G>A (p.Glu935Lys)

SNV
Germline

Chr2:29071459

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1592119

rs_200817926

4 SubmittersRCV000302153 RCV001365263 RCV003888795

NM_000539.3(RHO):c.48G>A (p.Ala16=)

SNV
Germline

Chr3:129528781

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607044

rs_766112074

2 SubmittersRCV000323919 RCV000371594 RCV003765982

NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln)

SNV
Germline

Chr2:61839991

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1679232

rs_149314387

5 SubmittersRCV000309470 RCV000967952 RCV001699327

NM_001201543.2(FAM161A):c.717G>A (p.Pro239=)

SNV
Germline

Chr2:61840287

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
FAM161A-related disorder

Criteria Provided
Conflicting Classifications

CA1679299

rs_377016856

4 SubmittersRCV000269398 RCV000928354 RCV003888805 RCV004758002

NM_014014.5(SNRNP200):c.4029C>T (p.Asp1343=)

SNV
Germline

Chr2:96285315

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1778315

rs_145242546

2 SubmittersRCV000277332 RCV001453112

NM_014014.5(SNRNP200):c.2665A>G (p.Ile889Val)

SNV
Germline

Chr2:96290403

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1778652

rs_140087655

2 SubmittersRCV000284209 RCV001861159

NM_014014.5(SNRNP200):c.2268A>G (p.Ser756=)

SNV
Germline

Chr2:96291793

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1778742

rs_370694903

2 SubmittersRCV000278178 RCV001436501

NM_014014.5(SNRNP200):c.1148G>A (p.Arg383His)

SNV
Germline

Chr2:96297692

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1778990

rs_536493402

4 SubmittersRCV000404781 RCV001321090 RCV002519995 RCV003888812

NM_014014.5(SNRNP200):c.1098C>T (p.Thr366=)

SNV
Germline

Chr2:96298305

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1779017

rs_774935614

2 SubmittersRCV000308717 RCV001438836

NM_014014.5(SNRNP200):c.574+9G>A

SNV
Germline

Chr2:96301515

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1779172

rs_145559167

2 SubmittersRCV000359788 RCV000901897

NM_014014.5(SNRNP200):c.46-7T>C

SNV
Germline

Chr2:96304875

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1779267

rs_373701482

3 SubmittersRCV000280276 RCV000921234

NM_014014.5(SNRNP200):c.5409C>T (p.Ser1803=)

SNV
Germline

Chr2:96278626

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1777981

rs_139137932

3 SubmittersRCV000384407 RCV000997183

NM_014014.5(SNRNP200):c.3258+12G>A

SNV
Germline

Chr2:96288651

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10616518

rs_886056461

2 SubmittersRCV000363900 RCV005055901

NM_014014.5(SNRNP200):c.390T>C (p.Asp130=)

SNV
Germline

Chr2:96301708

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1779189

rs_138291954

2 SubmittersRCV000262731 RCV001438577

NM_016247.4(IMPG2):c.3142C>T (p.Arg1048Trp)

SNV
Germline

Chr3:101232872

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Vitelliform macular dystrophy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2518823

rs_770293441

3 SubmittersRCV000348283 RCV001199484 RCV001245407

NM_016247.4(IMPG2):c.1169G>A (p.Arg390His)

SNV
Germline

Chr3:101253766

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
IMPG2-related disorder

Criteria Provided
Conflicting Classifications

CA2519255

rs_139255481

4 SubmittersRCV000278383 RCV000912285 RCV003888821 RCV003950195

NM_016247.4(IMPG2):c.2847A>G (p.Leu949=)

SNV
Germline

Chr3:101242863

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2518888

rs_371471872

2 SubmittersRCV000280467 RCV002057815

NM_016247.4(IMPG2):c.2803-14T>G

SNV
Germline

Chr3:101242921

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2518898

rs_376452358

2 SubmittersRCV000337895 RCV001471832

NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met)

SNV
Germline

Chr3:101253712

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified
IMPG2-related disorder

Criteria Provided
Conflicting Classifications

CA2519247

rs_148056371

6 SubmittersRCV000375226 RCV000949263 RCV001000670 RCV004757214

NM_001278293.3(ARL6):c.536-4T>C

SNV
Germline

Chr3:97798020

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Condition: not provided
ARL6-related disorder

Criteria Provided
Conflicting Classifications

CA2506009

rs_201939836

6 SubmittersRCV000304079 RCV000354200 RCV000860576 RCV001528228 RCV003972467

NM_001278293.3(ARL6):c.*470G>A

SNV
Germline

Chr3:97798519

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 3
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10616805

rs_184213166

1 SubmittersRCV000291926 RCV000381551

NM_000539.3(RHO):c.480C>A (p.Thr160=)

SNV
Germline

Chr3:129530994

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2607168

rs_151063543

6 SubmittersRCV000309251 RCV000389975 RCV000732353 RCV001700071

NM_000539.3(RHO):c.696+12G>A

SNV
Germline

Chr3:129532428

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607252

rs_55915536

2 SubmittersRCV000329636 RCV000386443 RCV001456280

NM_000539.3(RHO):c.959C>A (p.Thr320Asn)

SNV
Germline

Chr3:129533630

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided
RHO-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2607346

rs_138831590

5 SubmittersRCV000295474 RCV000380819 RCV001322065 RCV003401364 RCV004816589

NM_004744.5(LRAT):c.258G>A (p.Gly86=)

SNV
Germline

Chr4:154744584

Conflicting classifications of pathogenicity

Leber congenital amaurosis 14
Leber congenital amaurosis
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10617244

rs_768389044

2 SubmittersRCV000290030 RCV000348458 RCV000384403 RCV005090562

NM_004744.5(LRAT):c.*2529C>T

SNV
Germline

Chr4:154751665

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10617259

rs_185391295

1 SubmittersRCV000297399 RCV000335951 RCV000407189

NM_006017.3(PROM1):c.2309C>A (p.Pro770His)

SNV
Germline

Chr4:15984327

Conflicting classifications of pathogenicity

Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa
Retinal macular dystrophy type 2
Condition: not provided
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA2866427

rs_568361529

3 SubmittersRCV000308984 RCV000314748 RCV000363627 RCV000393001 RCV001518533 RCV004544649

NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe)

SNV
Germline

Chr4:16000583

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866747

rs_200520976

2 SubmittersRCV000291776 RCV000344405 RCV000383774 RCV000400713 RCV001510571

NM_006017.3(PROM1):c.1218C>G (p.Leu406=)

SNV
Germline

Chr4:16009032

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinitis pigmentosa
Stargardt disease 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10617341

rs_886059203

2 SubmittersRCV000295982 RCV000388013 RCV000394593 RCV000348661 RCV001504867

NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)

SNV
Germline

Chr4:16023379

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinal macular dystrophy type 2
Retinitis pigmentosa
Cone-rod dystrophy 12
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866970

rs_369815021

3 SubmittersRCV000308028 RCV000347822 RCV000369682 RCV000398824 RCV001300200 RCV003888826

NM_001379270.1(CNGA1):c.642A>G (p.Arg214=)

SNV
Germline

Chr4:47940773

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2911224

rs_752257711

2 SubmittersRCV000375944 RCV002057930

NM_001379270.1(CNGA1):c.349G>A (p.Glu117Lys)

SNV
Germline

Chr4:47943269

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2911307

rs_539600817

3 SubmittersRCV000348268 RCV003114506

NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln)

SNV
Germline

Chr4:654153

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2794178

rs_145756948

3 SubmittersRCV000327738 RCV000382287 RCV001244128 RCV004955455

NM_000283.4(PDE6B):c.1083C>T (p.Ser361=)

SNV
Germline

Chr4:656268

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794333

rs_142802752

4 SubmittersRCV000314507 RCV000404989 RCV000906390

NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn)

SNV
Germline

Chr4:657390

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2794445

rs_539768252

3 SubmittersRCV000267066 RCV000361712 RCV001861237 RCV003243107

NM_000283.4(PDE6B):c.1590C>T (p.Val530=)

SNV
Germline

Chr4:660589

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2794583

rs_202244041

3 SubmittersRCV000352811 RCV000388750 RCV002057943 RCV003888832

NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn)

SNV
Germline

Chr4:666588

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 40
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA2795009

rs_141563823

4 SubmittersRCV001091293 RCV000678595 RCV004816598

NM_006017.3(PROM1):c.*1052G>A

SNV
Germline

Chr4:15968341

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10618184

rs_577484119

1 SubmittersRCV000271338 RCV000306689 RCV000328709 RCV000363732

NM_006017.3(PROM1):c.*684C>T

SNV
Germline

Chr4:15968709

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10618194

rs_140362696

1 SubmittersRCV000278098 RCV000281713 RCV000316805 RCV000373870

NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)

SNV
Germline

Chr4:15979426

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinal macular dystrophy type 2
Retinitis pigmentosa
Cone-rod dystrophy 12
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866323

rs_201910962

3 SubmittersRCV000274437 RCV000296764 RCV000331908 RCV000388672 RCV001301011 RCV003888822

NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly)

SNV
Germline

Chr4:15984352

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Stargardt disease 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866434

rs_202029748

4 SubmittersRCV000274073 RCV000319916 RCV000355970 RCV000368747 RCV000839749

NM_006017.3(PROM1):c.1377C>T (p.Gly459=)

SNV
Germline

Chr4:16006615

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866789

rs_779072238

2 SubmittersRCV000295344 RCV000312842 RCV000352517 RCV000401437 RCV001861230

NM_001379270.1(CNGA1):c.483T>C (p.Tyr161=)

SNV
Germline

Chr4:47942103

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2911270

rs_201341924

2 SubmittersRCV000293309 RCV000896898

NM_000283.4(PDE6B):c.133G>A (p.Asp45Asn)

SNV
Germline

Chr4:625759

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2793852

rs_138423108

3 SubmittersRCV000298325 RCV000341531 RCV001320505 RCV003888829

NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp)

SNV
Germline

Chr4:625830

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2793868

rs_200079698

3 SubmittersRCV000269946 RCV000334160 RCV001211414

NM_000283.4(PDE6B):c.270C>T (p.Asp90=)

SNV
Germline

Chr4:625896

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2793894

rs_80344633

5 SubmittersRCV000318799 RCV000375998 RCV000899653 RCV001699384

NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys)

SNV
Germline

Chr4:634704

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2793981

rs_115775983

7 SubmittersRCV000350373 RCV000406027 RCV000958533 RCV003888830

NM_000283.4(PDE6B):c.789G>A (p.Thr263=)

SNV
Germline

Chr4:653929

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794119

rs_138789637

2 SubmittersRCV000342401 RCV000393014 RCV001451842

NM_000283.4(PDE6B):c.966C>T (p.His322=)

SNV
Germline

Chr4:654862

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794238

rs_143711050

2 SubmittersRCV000284445 RCV000378655 RCV000912271

NM_000283.4(PDE6B):c.1026C>T (p.Ser342=)

SNV
Germline

Chr4:655973

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10619046

rs_754298712

2 SubmittersRCV000339413 RCV000407941 RCV002057942

NM_000283.4(PDE6B):c.1218C>T (p.Asp406=)

SNV
Germline

Chr4:656984

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794390

rs_148190219

3 SubmittersRCV000311133 RCV000365845 RCV000891594

NM_000283.4(PDE6B):c.1296C>T (p.Thr432=)

SNV
Germline

Chr4:657389

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794443

rs_114100439

3 SubmittersRCV000270690 RCV000325718 RCV000961040

NM_000283.4(PDE6B):c.1401+5G>A

SNV
Germline

Chr4:657499

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794473

rs_201623488

3 SubmittersRCV000322074 RCV000376740 RCV000909197

NM_000283.4(PDE6B):c.1635C>T (p.Phe545=)

SNV
Germline

Chr4:662154

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794626

rs_141813304

2 SubmittersRCV000309626 RCV000391217 RCV000966175

NM_000283.4(PDE6B):c.2098T>A (p.Ser700Thr)

SNV
Germline

Chr4:664190

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2794844

rs_149880099

3 SubmittersRCV000262459 RCV000356608 RCV001067889 RCV003888834

NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala)

SNV
Germline

Chr4:670090

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
PDE6B-related disorder

Criteria Provided
Conflicting Classifications

CA2795114

rs_141647790

5 SubmittersRCV000283346 RCV000338358 RCV000591409 RCV004021968 RCV004545766

NM_000283.4(PDE6B):c.*79A>G

SNV
Germline

Chr4:670186

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA2795129

rs_753277194

1 SubmittersRCV000310856 RCV000404576

NM_000440.3(PDE6A):c.1936A>G (p.Ile646Val)

SNV
Germline

Chr5:149884570

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504459

rs_147047715

3 SubmittersRCV000906829 RCV000371829 RCV003888837

NM_000440.3(PDE6A):c.1745G>A (p.Arg582His)

SNV
Germline

Chr5:149886358

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504547

rs_77760924

4 SubmittersRCV000336758 RCV001062154 RCV001073266

NM_000440.3(PDE6A):c.1614A>G (p.Pro538=)

SNV
Germline

Chr5:149896362

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504628

rs_139697733

2 SubmittersRCV000351728 RCV000919470

NM_000440.3(PDE6A):c.1296A>G (p.Leu432=)

SNV
Germline

Chr5:149898474

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
PDE6A-related disorder

Criteria Provided
Conflicting Classifications

CA3504731

rs_372161698

3 SubmittersRCV000343727 RCV002061264 RCV003970024

NM_000440.3(PDE6A):c.628-5T>G

SNV
Germline

Chr5:149934024

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504996

rs_757034771

2 SubmittersRCV000331903 RCV001346375

NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn)

SNV
Germline

Chr5:149944400

Conflicting classifications of pathogenicity

Retinitis pigmentosa 43
Retinitis pigmentosa
Condition: not provided
Usher syndrome

Criteria Provided
Conflicting Classifications

CA3505097

rs_199924410

4 SubmittersRCV002470846 RCV000401940 RCV001417212 RCV003389471

NM_001278293.3(ARL6):c.-27-1461A>T

SNV
Germline

Chr3:97766620

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Bardet-Biedl syndrome 3

Criteria Provided
Conflicting Classifications

CA10619735

rs_143739859

1 SubmittersRCV000287941 RCV000347529

NM_004744.5(LRAT):c.*98C>T

SNV
Germline

Chr4:154749234

Conflicting classifications of pathogenicity

Leber congenital amaurosis 14
Retinitis pigmentosa
Leber congenital amaurosis
Rod-cone dystrophy

Criteria Provided
Conflicting Classifications

CA10620306

rs_529360609

2 SubmittersRCV000277933 RCV000333107 RCV000354005 RCV001090045

NM_006017.3(PROM1):c.2211+7C>T

SNV
Germline

Chr4:15985950

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Stargardt disease 4
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866473

rs_372262346

2 SubmittersRCV000300221 RCV000312096 RCV000366791 RCV000391793 RCV001455863

NM_006017.3(PROM1):c.1683-3C>T

SNV
Germline

Chr4:15994074

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Stargardt disease 4
Retinitis pigmentosa
Retinal macular dystrophy type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866675

rs_143470288

2 SubmittersRCV000302494 RCV000308385 RCV000348076 RCV000398666 RCV000886518

NM_006017.3(PROM1):c.1579-6T>C

SNV
Germline

Chr4:15998494

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866715

rs_181261277

4 SubmittersRCV000277946 RCV000314370 RCV000363164 RCV000369060 RCV000956181

NM_006017.3(PROM1):c.1578+9G>C

SNV
Germline

Chr4:16000487

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866728

rs_747638667

2 SubmittersRCV000261455 RCV000262727 RCV000320164 RCV000353950 RCV002057918

NM_006017.3(PROM1):c.843C>T (p.His281=)

SNV
Germline

Chr4:16018482

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866936

rs_374394451

2 SubmittersRCV000273099 RCV000276686 RCV000307126 RCV000364245 RCV002057920

NM_006017.3(PROM1):c.277-15C>T

SNV
Germline

Chr4:16035776

Conflicting classifications of pathogenicity

Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2867123

rs_372599685

2 SubmittersRCV000289511 RCV000332880 RCV000381583 RCV000389815 RCV002057921

NM_006017.3(PROM1):c.181A>G (p.Ile61Val)

SNV
Germline

Chr4:16075726

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Condition: not provided
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa 41

Criteria Provided
Conflicting Classifications

CA2867174

rs_201701647

4 SubmittersRCV000273204 RCV000308324 RCV000363045 RCV000400360 RCV001439949 RCV005398476

NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala)

SNV
Germline

Chr4:15979399

Conflicting classifications of pathogenicity

Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2866319

rs_747844753

3 SubmittersRCV000261335 RCV000318837 RCV000353914 RCV000375741 RCV001861228 RCV004955454

NM_006017.3(PROM1):c.2364C>T (p.Ile788=)

SNV
Germline

Chr4:15984272

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Cone-rod dystrophy 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866416

rs_551849678

2 SubmittersRCV000283949 RCV000339031 RCV000399383 RCV000399730 RCV001442000

NM_006017.3(PROM1):c.1911+14G>A

SNV
Germline

Chr4:15992234

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866604

rs_79077926

2 SubmittersRCV000272696 RCV000309053 RCV000357535 RCV000363702 RCV001513432

NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)

SNV
Germline

Chr4:16000498

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal macular dystrophy type 2
Stargardt disease 4
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866732

rs_201870277

5 SubmittersRCV000283728 RCV000322364 RCV000323535 RCV000594499 RCV003888823

NM_006017.3(PROM1):c.1344C>T (p.Ile448=)

SNV
Germline

Chr4:16006648

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 12
Stargardt disease 4
Retinal macular dystrophy type 2
Condition: not provided
Retinal dystrophy
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA2866795

rs_147174580

5 SubmittersRCV000297263 RCV000354443 RCV000355570 RCV000407818 RCV000998227 RCV003888824 RCV004530407

NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)

SNV
Germline

Chr4:16018362

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinitis pigmentosa
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Condition: not provided
Retinal dystrophy
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA2866910

rs_202041422

4 SubmittersRCV000282344 RCV000304480 RCV000335053 RCV000399717 RCV002057919 RCV003888825 RCV004530408

NM_006017.3(PROM1):c.792G>A (p.Lys264=)

SNV
Germline

Chr4:16018533

Conflicting classifications of pathogenicity

Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa
Retinal macular dystrophy type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866947

rs_776605111

2 SubmittersRCV000274554 RCV000317930 RCV000334145 RCV000386341 RCV003766007

NM_006017.3(PROM1):c.717C>T (p.Gly239=)

SNV
Germline

Chr4:16023393

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Retinitis pigmentosa
Cone-rod dystrophy 12
Stargardt disease 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866976

rs_763697898

2 SubmittersRCV000266664 RCV000315947 RCV000324190 RCV000372846 RCV001454692

NM_006017.3(PROM1):c.678G>A (p.Ala226=)

SNV
Germline

Chr4:16024311

Conflicting classifications of pathogenicity

Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2867001

rs_187116049

3 SubmittersRCV000283971 RCV000345958 RCV000384160 RCV000376482 RCV000912093 RCV003888827

NM_006017.3(PROM1):c.276+15G>T

SNV
Germline

Chr4:16038931

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2867130

rs_766012920

1 SubmittersRCV000278099 RCV000295776 RCV000350668 RCV000394477

NM_006017.3(PROM1):c.-25T>A

SNV
Germline

Chr4:16075931

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinal macular dystrophy type 2
Retinitis pigmentosa
Cone-rod dystrophy 12

Criteria Provided
Conflicting Classifications

CA2867210

rs_149845694

1 SubmittersRCV000259686 RCV000313534 RCV000319521 RCV000354399

NM_000440.3(PDE6A):c.2568C>T (p.Ser856=)

SNV
Germline

Chr5:149860910

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504229

rs_147000954

3 SubmittersRCV000270453 RCV000965193

NM_000440.3(PDE6A):c.918G>A (p.Arg306=)

SNV
Germline

Chr5:149921650

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504895

rs_139553131

2 SubmittersRCV000359518 RCV001512241

NM_000440.3(PDE6A):c.481C>G (p.His161Asp)

SNV
Germline

Chr5:149934712

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3505032

rs_758150381

2 SubmittersRCV000332836 RCV002061265

NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln)

SNV
Germline

Chr5:149944375

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Usher syndrome
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

CA3505085

rs_199738915

4 SubmittersRCV000353155 RCV001487723 RCV003389470 RCV002470845

NM_001379270.1(CNGA1):c.705A>G (p.Lys235=)

SNV
Germline

Chr4:47937777

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2911204

rs_368137821

2 SubmittersRCV000335431 RCV001485133

NM_001379270.1(CNGA1):c.1407A>G (p.Thr469=)

SNV
Germline

Chr4:47937075

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2911084

rs_201553765

5 SubmittersRCV000379434 RCV000916340 RCV001700338

NM_001379270.1(CNGA1):c.83G>A (p.Arg28Gln)

SNV
Germline

Chr4:47952607

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2911392

rs_76537883

2 SubmittersRCV000398051 RCV001511560

NM_001242957.3(MAK):c.968C>G (p.Pro323Arg)

SNV
Germline

Chr6:10796173

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Condition: not provided
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3633589

rs_200641218

4 SubmittersRCV000406204 RCV001317683 RCV003888839 RCV004022011

NM_000283.4(PDE6B):c.170C>T (p.Thr57Met)

SNV
Germline

Chr4:625796

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2793860

rs_149359860

2 SubmittersRCV000309731 RCV000362223 RCV001861233

NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn)

SNV
Germline

Chr4:634690

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
High myopia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2793978

rs_574098823

3 SubmittersRCV000288636 RCV000332008 RCV000785739 RCV001436063

NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile)

SNV
Germline

Chr4:635940

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794053

rs_201584824

2 SubmittersRCV000282880 RCV000379626 RCV001340998

NM_000283.4(PDE6B):c.699G>A (p.Thr233=)

SNV
Germline

Chr4:635957

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2794056

rs_148264146

3 SubmittersRCV000310055 RCV000343932 RCV000895940 RCV003888831

NM_000283.4(PDE6B):c.1108-9C>T

SNV
Germline

Chr4:656865

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794363

rs_200970775

2 SubmittersRCV000369296 RCV000404686 RCV000884408

NM_000283.4(PDE6B):c.1592G>A (p.Arg531Gln)

SNV
Germline

Chr4:660591

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2794585

rs_144664551

3 SubmittersRCV000294425 RCV000349329 RCV001240311 RCV003168538

NM_000283.4(PDE6B):c.1945A>G (p.Asn649Asp)

SNV
Germline

Chr4:663794

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Inborn genetic diseases
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794787

rs_768939011

4 SubmittersRCV000344856 RCV000402966 RCV002523475 RCV003888833 RCV005055918

NM_000283.4(PDE6B):c.2269-11C>T

SNV
Germline

Chr4:666520

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794987

rs_370169775

2 SubmittersRCV000347789 RCV000383643 RCV002057944

NM_000283.4(PDE6B):c.2293G>C (p.Ala765Pro)

SNV
Germline

Chr4:666555

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2794998

rs_199521106

3 SubmittersRCV000303010 RCV000392694 RCV000931351 RCV003888835

NM_000283.4(PDE6B):c.2352+3G>A

SNV
Germline

Chr4:666617

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2795017

rs_111504036

2 SubmittersRCV000274619 RCV000369235 RCV001044545

NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)

SNV
Germline

Chr4:653879

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Retinitis pigmentosa 40
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2794105

rs_780521818

6 SubmittersRCV000377308 RCV000504695 RCV001376332 RCV001543444 RCV004816597

NM_000283.4(PDE6B):c.852+12G>A

SNV
Germline

Chr4:654004

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794146

rs_201676629

2 SubmittersRCV000311171 RCV000405497 RCV001513143

NM_000283.4(PDE6B):c.1060-13G>A

SNV
Germline

Chr4:656232

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794329

rs_147482093

4 SubmittersRCV000280451 RCV000335547 RCV001518693

NM_000283.4(PDE6B):c.2352+13C>T

SNV
Germline

Chr4:666627

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2795018

rs_374527841

2 SubmittersRCV000329764 RCV000384343 RCV002057945

NM_000283.4(PDE6B):c.2526C>T (p.Gly842=)

SNV
Germline

Chr4:670068

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2795106

rs_61733857

3 SubmittersRCV000323274 RCV000378001 RCV001520398

NM_000283.3(PDE6B):c.*764G>A

SNV
Germline

Chr4:670871

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA10621527

rs_575639886

1 SubmittersRCV000259755 RCV000317306

NM_001142800.2(EYS):c.7411+11C>T

SNV
Germline

Chr6:63806179

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10622573

rs_886061668

2 SubmittersRCV000343283 RCV003556362

NM_001142800.2(EYS):c.7034G>A (p.Arg2345His)

SNV
Germline

Chr6:63984404

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3876855

rs_201304559

6 SubmittersRCV000401845 RCV000998642 RCV001833474 RCV002524500

NM_001142800.2(EYS):c.4440A>G (p.Arg1480=)

SNV
Germline

Chr6:64591427

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA10622586

rs_886061675

3 SubmittersRCV000264005 RCV000981921 RCV001563749

NM_001142800.2(EYS):c.3345A>G (p.Glu1115=)

SNV
Germline

Chr6:64813476

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3877172

rs_114282214

5 SubmittersRCV000340905 RCV000897845 RCV001001967

NM_001142800.2(EYS):c.2613C>T (p.Asp871=)

SNV
Germline

Chr6:64912512

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3877269

rs_192059823

7 SubmittersRCV000374194 RCV000487561 RCV001274984

NM_001142800.2(EYS):c.2562C>T (p.Asp854=)

SNV
Germline

Chr6:64912563

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3877275

rs_188011013

3 SubmittersRCV000263219 RCV000916299

NM_001142800.2(EYS):c.281C>A (p.Pro94Gln)

SNV
Germline

Chr6:65495130

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
not specified

Criteria Provided
Conflicting Classifications

CA3878102

rs_111947397

7 SubmittersRCV000398864 RCV000955361 RCV001449944 RCV001700091

NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=)

SNV
Germline

Chr7:128395198

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4470863

rs_199623010

2 SubmittersRCV000316639 RCV000376000 RCV000949146

NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala)

SNV
Germline

Chr7:128400350

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
IMPDH1-related disorder

Criteria Provided
Conflicting Classifications

CA4471065

rs_144659635

7 SubmittersRCV000287544 RCV000347099 RCV000521919 RCV003168555 RCV004544684

NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val)

SNV
Germline

Chr5:149860929

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
PDE6A-related disorder

Criteria Provided
Conflicting Classifications

CA3504232

rs_138315990

6 SubmittersRCV000306846 RCV000414303 RCV004816599 RCV003932441

NM_000440.3(PDE6A):c.1954C>T (p.Arg652Cys)

SNV
Germline

Chr5:149884552

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504455

rs_199748187

3 SubmittersRCV000266622 RCV000927531 RCV003888836

NM_000440.3(PDE6A):c.1952A>G (p.Asn651Ser)

SNV
Germline

Chr5:149884554

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504456

rs_149380104

2 SubmittersRCV000317078 RCV000909706

NM_000440.3(PDE6A):c.1729-4C>T

SNV
Germline

Chr5:149886378

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10623421

rs_555052906

2 SubmittersRCV000386640 RCV002058515

NM_000440.3(PDE6A):c.384C>T (p.Pro128=)

SNV
Germline

Chr5:149944290

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3505066

rs_192618681

2 SubmittersRCV001434091 RCV000348073

NM_000440.3(PDE6A):c.343G>A (p.Val115Ile)

SNV
Germline

Chr5:149944331

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3505072

rs_147159579

3 SubmittersRCV000282797 RCV001497572 RCV005452983

NM_000440.3(PDE6A):c.-11G>T

SNV
Germline

Chr5:149944684

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3505167

rs_112926956

2 SubmittersRCV000273676 RCV001672657

NM_000440.3(PDE6A):c.1408-11G>A

SNV
Germline

Chr5:149896787

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy
PDE6A-related retinopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504691

rs_201527437

4 SubmittersRCV000307692 RCV004816600 RCV005355675 RCV001513739

NM_000440.3(PDE6A):c.853C>A (p.Gln285Lys)

SNV
Germline

Chr5:149931033

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504933

rs_201406216

4 SubmittersRCV001044861 RCV000306059 RCV004649138 RCV004816601

NM_000440.3(PDE6A):c.830T>C (p.Val277Ala)

SNV
Germline

Chr5:149931056

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504937

rs_145608358

2 SubmittersRCV000360865 RCV001234568

NM_000440.3(PDE6A):c.498G>A (p.Val166=)

SNV
Germline

Chr5:149934695

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 43
Condition: not provided
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA3505029

rs_138274547

6 SubmittersRCV000296760 RCV001287033 RCV000964262 RCV004816602 RCV001700341

NM_003322.6(TULP1):c.1341G>A (p.Leu447=)

SNV
Germline

Chr6:35500135

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772568

rs_61734562

2 SubmittersRCV000350627 RCV000398421 RCV000945421

NM_003322.6(TULP1):c.499+12G>C

SNV
Germline

Chr6:35510849

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772909

rs_185636479

2 SubmittersRCV000289767 RCV000344699 RCV001516160

NM_003322.6(TULP1):c.249G>A (p.Ala83=)

SNV
Germline

Chr6:35511748

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772980

rs_377105125

2 SubmittersRCV000305203 RCV000359869 RCV000945530

NM_000322.5(PRPH2):c.*1687C>T

SNV
Germline

Chr6:42696608

Conflicting classifications of pathogenicity

Cone-rod dystrophy
Patterned macular dystrophy 1
Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10623892

rs_139177846

1 SubmittersRCV000265951 RCV000288235 RCV000324365 RCV000328104 RCV000358091 RCV000384861

NM_000322.5(PRPH2):c.*797G>A

SNV
Germline

Chr6:42697498

Conflicting classifications of pathogenicity

Cone-rod dystrophy
Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10623927

rs_188694434

1 SubmittersRCV000289095 RCV000282855 RCV000323813 RCV000344096 RCV000378833 RCV000384684

NM_000322.5(PRPH2):c.1008C>T (p.Gly336=)

SNV
Germline

Chr6:42698328

Conflicting classifications of pathogenicity

Patterned macular dystrophy 1
Choroidal dystrophy, central areolar 2
Adult-onset foveomacular vitelliform dystrophy
Retinitis pigmentosa
Pigmentary retinal dystrophy
Cone-rod dystrophy
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3808464

rs_752365478

3 SubmittersRCV000290210 RCV000305394 RCV000341580 RCV000345147 RCV000376706 RCV000407997 RCV001424704 RCV004816605

NM_000322.5(PRPH2):c.252C>T (p.Asp84=)

SNV
Germline

Chr6:42722083

Conflicting classifications of pathogenicity

Patterned macular dystrophy 1
Adult-onset foveomacular vitelliform dystrophy
Cone-rod dystrophy
Pigmentary retinal dystrophy
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa
PRPH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3808644

rs_139936445

3 SubmittersRCV000265544 RCV000301917 RCV000305456 RCV000356577 RCV000360203 RCV000403799 RCV001484194 RCV003422345

NM_001142800.2(EYS):c.9237A>G (p.Leu3079=)

SNV
Germline

Chr6:63720794

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3876677

rs_139944387

4 SubmittersRCV000270730 RCV000908799 RCV003888844

NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)

SNV
Germline

Chr6:63778167

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3876779

rs_191846522

7 SubmittersRCV000318554 RCV000729238 RCV001700089 RCV001075262 RCV001833473

NM_001142800.2(EYS):c.7056-15T>A

SNV
Germline

Chr6:63864373

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3876845

rs_139056492

2 SubmittersRCV000347421 RCV001513650

NM_001142800.2(EYS):c.5140A>C (p.Thr1714Pro)

SNV
Germline

Chr6:64590727

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10624519

rs_201916371

4 SubmittersRCV001274974 RCV000399578 RCV000902508 RCV004816608

NM_001142800.2(EYS):c.2738+13T>C

SNV
Germline

Chr6:64902391

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10624520

rs_886061682

2 SubmittersRCV000370347 RCV002058625

NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr)

SNV
Germline

Chr6:65057712

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
EYS-related disorder

Criteria Provided
Conflicting Classifications

CA3877329

rs_376807770

6 SubmittersRCV000284388 RCV001277010 RCV000914157 RCV001074467 RCV004751497

NM_001142800.2(EYS):c.1899A>G (p.Gln633=)

SNV
Germline

Chr6:65295987

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 25
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3877361

rs_373197894

5 SubmittersRCV000300630 RCV001277012 RCV001700090 RCV000905514

NM_001142800.2(EYS):c.632G>T (p.Cys211Phe)

SNV
Germline

Chr6:65494779

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA3878045

rs_772707303

2 SubmittersRCV001247398 RCV005033900

NM_001142800.2(EYS):c.91G>A (p.Glu31Lys)

SNV
Germline

Chr6:65495320

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3878130

rs_572189652

4 SubmittersRCV000297438 RCV000941634 RCV001828353

NM_001142800.2(EYS):c.-407C>G

SNV
Germline

Chr6:65639852

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10624529

rs_137924872

2 SubmittersRCV000270099 RCV001520329

NM_152419.3(HGSNAT):c.234+14C>G

SNV
Germline

Chr8:43147077

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Condition: not provided
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

CA4736451

rs_146429523

3 SubmittersRCV000263117 RCV000514120 RCV001514319

NM_001242957.3(MAK):c.1144-10T>C

SNV
Germline

Chr6:10791857

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
MAK-related disorder

Criteria Provided
Conflicting Classifications

CA3633527

rs_202001756

3 SubmittersRCV000391235 RCV001402363 RCV003957831

NM_001242957.3(MAK):c.1128C>T (p.Val376=)

SNV
Germline

Chr6:10796013

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3633550

rs_768120333

2 SubmittersRCV000278577 RCV002061300

NM_001242957.3(MAK):c.867A>G (p.Val289=)

SNV
Germline

Chr6:10796274

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3633604

rs_147570352

2 SubmittersRCV000305423 RCV002524459

NM_001242957.3(MAK):c.1815T>C (p.Thr605=)

SNV
Germline

Chr6:10764584

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3633334

rs_570463236

2 SubmittersRCV000299335 RCV002058547

NM_001242957.3(MAK):c.843C>T (p.His281=)

SNV
Germline

Chr6:10796298

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Condition: not provided
Retinitis pigmentosa 62

Criteria Provided
Conflicting Classifications

CA3633609

rs_55950618

3 SubmittersRCV000404247 RCV001513634 RCV001803682

NM_001242957.3(MAK):c.1317-12T>C

SNV
Germline

Chr6:10784584

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3633464

rs_756170824

2 SubmittersRCV000389275 RCV002058548

NM_006269.2(RP1):c.3198G>A (p.Glu1066=)

SNV
Germline

Chr8:54627080

Conflicting classifications of pathogenicity

Retinitis pigmentosa
RP1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4751657

rs_759707480

3 SubmittersRCV000342171 RCV003922636 RCV002524568

NM_001242957.3(MAK):c.405T>G (p.Gly135=)

SNV
Germline

Chr6:10808896

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3633727

rs_373994062

2 SubmittersRCV000268732 RCV000914449

NM_001242957.3(MAK):c.359-13G>A

SNV
Germline

Chr6:10808955

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3633740

rs_76972797

2 SubmittersRCV000326124 RCV001513588

NM_001242957.3(MAK):c.1184G>T (p.Arg395Leu)

SNV
Germline

Chr6:10791807

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3633519

rs_62000445

4 SubmittersRCV000349993 RCV001700085 RCV000971523

NM_001031710.3(KLHL7):c.1378A>G (p.Thr460Ala)

SNV
Germline

Chr7:23168036

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4186594

rs_761755398

3 SubmittersRCV000287804 RCV001861302 RCV003888848

NM_003322.6(TULP1):c.823-8G>A

SNV
Germline

Chr6:35506287

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772786

rs_372183095

2 SubmittersRCV000267212 RCV000361884 RCV001454626

NM_003322.6(TULP1):c.544A>G (p.Arg182Gly)

SNV
Germline

Chr6:35509884

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 15
Condition: not provided
TULP1-related disorder

Criteria Provided
Conflicting Classifications

CA3772881

rs_142641513

3 SubmittersRCV000334230 RCV000388773 RCV000878438 RCV004530441

NM_178857.6(RP1L1):c.6322G>A (p.Gly2108Arg)

SNV
Germline

Chr8:10607776

Conflicting classifications of pathogenicity

Occult macular dystrophy
Condition: not provided
Retinal dystrophy
Occult macular dystrophy
Retinitis pigmentosa 88

Criteria Provided
Conflicting Classifications

CA4623371

rs_187998469

4 SubmittersRCV000303595 RCV003884509 RCV003888854 RCV005398490

NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter)

SNV
Germline

Chr8:10608277

Conflicting classifications of pathogenicity

Occult macular dystrophy
Condition: not provided
Retinitis pigmentosa 88
not specified
Occult macular dystrophy
Retinitis pigmentosa 88

Criteria Provided
Conflicting Classifications

CA4623523

rs_201017122

6 SubmittersRCV000376023 RCV000584938 RCV001591030 RCV003230487 RCV005398491

NM_000322.5(PRPH2):c.*1565G>A

SNV
Germline

Chr6:42696730

Conflicting classifications of pathogenicity

Cone-rod dystrophy
Adult-onset foveomacular vitelliform dystrophy
Retinitis pigmentosa
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy
Patterned macular dystrophy 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10626750

rs_41273818

2 SubmittersRCV000303237 RCV000304416 RCV000334298 RCV000361524 RCV000406284 RCV000395085 RCV003311779

NM_002098.6(GUCA1B):c.387G>A (p.Arg129=)

SNV
Germline

Chr6:42185768

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3805567

rs_527241870

2 SubmittersRCV000314388 RCV002520416

NM_000322.5(PRPH2):c.*20C>T

SNV
Germline

Chr6:42698275

Conflicting classifications of pathogenicity

Adult-onset foveomacular vitelliform dystrophy
Patterned macular dystrophy 1
Retinitis pigmentosa
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA3808450

rs_180775924

1 SubmittersRCV000301789 RCV000305101 RCV000336826 RCV000340291 RCV000393145 RCV000403264

NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)

SNV
Germline

Chr6:42704544

Conflicting classifications of pathogenicity

Choroidal Dystrophy
Pigmentary retinal dystrophy
Cone-Rod Dystrophy, Dominant
Patterned macular dystrophy 1
Retinitis Pigmentosa, Dominant
Vitelliform macular dystrophy
Patterned dystrophy of the retinal pigment epithelium
PRPH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3808563

rs_767471467

4 SubmittersRCV000271221 RCV000267701 RCV000326330 RCV000311099 RCV000362139 RCV000365732 RCV001250375 RCV001318786 RCV001530369

NM_000322.5(PRPH2):c.312C>T (p.Ile104=)

SNV
Germline

Chr6:42722023

Conflicting classifications of pathogenicity

Adult-onset foveomacular vitelliform dystrophy
Pigmentary retinal dystrophy
Patterned macular dystrophy 1
Cone-rod dystrophy
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3808636

rs_200009675

3 SubmittersRCV000295006 RCV000309085 RCV000349955 RCV000363735 RCV000406712 RCV000406713 RCV002058610 RCV003888843

NM_001142800.2(EYS):c.6725+9T>C

SNV
Germline

Chr6:64066329

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627359

rs_886061671

2 SubmittersRCV000313245 RCV002058623

NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)

SNV
Germline

Chr6:64591313

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Autosomal recessive retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA3877071

rs_772339340

7 SubmittersRCV000390985 RCV000625443 RCV000935259 RCV001274976 RCV001699391

NM_001142800.2(EYS):c.3690C>T (p.Cys1230=)

SNV
Germline

Chr6:64593304

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627384

rs_886061678

2 SubmittersRCV000342032 RCV002058624

NM_001142800.2(EYS):c.1184+14T>C

SNV
Germline

Chr6:65402464

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3877846

rs_182780299

4 SubmittersRCV000292057 RCV000611732 RCV001509797 RCV004816609

NM_001142800.2(EYS):c.8233+8T>G

SNV
Germline

Chr6:63726511

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10627396

rs_886061666

3 SubmittersRCV000385930 RCV002058622 RCV004816606

NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile)

SNV
Germline

Chr6:65402517

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3877857

rs_144935927

4 SubmittersRCV000382952 RCV000969945 RCV001277018

NM_001142800.2(EYS):c.5883T>G (p.Thr1961=)

SNV
Germline

Chr6:64436218

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3876968

rs_779530881

2 SubmittersRCV000361275 RCV001426618

NM_001142800.2(EYS):c.-207A>G

SNV
Germline

Chr6:65495868

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627414

rs_370140172

3 SubmittersRCV000305805 RCV001833477 RCV001519650

NM_001142800.2(EYS):c.2992+9A>G

SNV
Germline

Chr6:64886688

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627415

rs_886061680

2 SubmittersRCV000406722 RCV000953058

NM_001142800.2(EYS):c.2975G>T (p.Cys992Phe)

SNV
Germline

Chr6:64886714

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3877230

rs_566917467

2 SubmittersRCV000309985 RCV000929860

NM_001142800.2(EYS):c.-337T>A

SNV
Germline

Chr6:65639782

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
EYS-related disorder

Criteria Provided
Conflicting Classifications

CA10627418

rs_145321084

5 SubmittersRCV000328133 RCV000838530 RCV004751498

NM_001142800.2(EYS):c.-414G>A

SNV
Germline

Chr6:65639859

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627419

rs_181146743

2 SubmittersRCV000332069 RCV001519796

NM_001142800.2(EYS):c.-459C>T

SNV
Germline

Chr6:65707146

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627420

rs_144371265

6 SubmittersRCV000388981 RCV000665930 RCV001512978

NM_001142800.2(EYS):c.2641+8C>A

SNV
Germline

Chr6:64912476

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627422

rs_886061683

3 SubmittersRCV000330833 RCV004526670 RCV000927926

NM_001142800.2(EYS):c.2260-7C>T

SNV
Germline

Chr6:64945921

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
EYS-related disorder

Criteria Provided
Conflicting Classifications

CA10627424

rs_532797776

3 SubmittersRCV000285673 RCV001450307 RCV003957843

NM_001142800.2(EYS):c.1950G>A (p.Ala650=)

SNV
Germline

Chr6:65295936

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA10627426

rs_565864295

3 SubmittersRCV000368743 RCV000976441 RCV001833476

NM_001142800.2(EYS):c.334G>C (p.Val112Leu)

SNV
Germline

Chr6:65495077

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3878094

rs_112609906

5 SubmittersRCV000337683 RCV001074806 RCV001277025 RCV000917647

NM_001142800.2(EYS):c.-200G>A

SNV
Germline

Chr6:65495861

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627438

rs_368932132

2 SubmittersRCV000392487 RCV001513649

NM_001142800.2(EYS):c.-350G>A

SNV
Germline

Chr6:65639795

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627441

rs_886061687

3 SubmittersRCV000362375 RCV001279322 RCV002058626

NM_001142800.2(EYS):c.-521C>T

SNV
Germline

Chr6:65707208

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627447

rs_769167992

2 SubmittersRCV000373865 RCV002058627

NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr)

SNV
Germline

Chr6:79513531

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3901128

rs_200395970

5 SubmittersRCV000400678 RCV001199700 RCV001861293 RCV001553635

NM_152419.3(HGSNAT):c.111G>A (p.Pro37=)

SNV
Germline

Chr8:43140607

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

CA10627894

rs_886062953

2 SubmittersRCV000312412 RCV002523684

NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)

SNV
Germline

Chr8:43191582

Conflicting classifications of pathogenicity

Sanfilippo syndrome
Condition: not provided
Mucopolysaccharidosis, MPS-III-C
not specified
Inborn genetic diseases
Retinitis pigmentosa 73
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4736810

rs_201346206

12 SubmittersRCV000346177 RCV001700100 RCV001256203 RCV001584092 RCV002523685 RCV001196774 RCV001240733 RCV004816619

NM_006269.2(RP1):c.912G>T (p.Lys304Asn)

SNV
Germline

Chr8:54624794

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4751293

rs_189145468

2 SubmittersRCV000305785 RCV001207739

NM_006269.2(RP1):c.5610C>G (p.Ser1870=)

SNV
Germline

Chr8:54629492

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4752099

rs_762475732

2 SubmittersRCV000293744 RCV001398376

NM_000883.4(IMPDH1):c.1653C>T (p.His551=)

SNV
Germline

Chr7:128394497

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA4470765

rs_147882304

2 SubmittersRCV000363032 RCV001518880 RCV000396001

NM_000883.4(IMPDH1):c.888C>T (p.Ile296=)

SNV
Germline

Chr7:128398600

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4470993

rs_72624957

2 SubmittersRCV000381950 RCV000342291 RCV002058652

NM_000883.4(IMPDH1):c.146+9C>T

SNV
Germline

Chr7:128409747

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4471278

rs_749118285

2 SubmittersRCV000313500 RCV000354378 RCV002523582

NM_000883.4(IMPDH1):c.*223C>G

SNV
Germline

Chr7:128392784

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10628264

rs_543042380

1 SubmittersRCV000296114 RCV000332038

NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=)

SNV
Germline

Chr7:128395186

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4470861

rs_780213373

2 SubmittersRCV000261438 RCV000369708 RCV003556363

NM_002900.3(RBP3):c.927C>T (p.Ala309=)

SNV
Germline

Chr10:47349411

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5487654

rs_75452094

3 SubmittersRCV000401701 RCV000961167 RCV003888712

NM_002900.3(RBP3):c.1044C>T (p.Pro348=)

SNV
Germline

Chr10:47349528

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487622

rs_547601457

2 SubmittersRCV000310963 RCV000914525

NM_002900.3(RBP3):c.1083G>C (p.Thr361=)

SNV
Germline

Chr10:47349567

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487611

rs_146487673

2 SubmittersRCV000397627 RCV000913373

NM_002900.3(RBP3):c.1776C>G (p.Thr592=)

SNV
Germline

Chr10:47350260

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487434

rs_139452142

2 SubmittersRCV000331213 RCV000916692

NM_002900.3(RBP3):c.2416C>T (p.Arg806Cys)

SNV
Germline

Chr10:47350900

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487287

rs_35238500

2 SubmittersRCV000319334 RCV000968658

NM_002900.3(RBP3):c.2619C>T (p.Ala873=)

SNV
Germline

Chr10:47351103

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487234

rs_146045906

5 SubmittersRCV000369770 RCV001700043 RCV000971293

NM_022124.6(CDH23):c.9198+13C>T

SNV
Germline

Chr10:71811448

Conflicting classifications of pathogenicity

Retinitis pigmentosa-deafness syndrome
not specified
Hearing loss, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5546916

rs_375384238

3 SubmittersRCV000334748 RCV000608038 RCV004577765 RCV002056129

NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)

SNV
Germline

Chr8:10610127

Conflicting classifications of pathogenicity

Occult macular dystrophy
Condition: not provided
Retinitis pigmentosa 88
not specified

Criteria Provided
Conflicting Classifications

CA10629800

rs_4240659

9 SubmittersRCV000315863 RCV001355893 RCV001796009 RCV001528387

NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)

SNV
Germline

Chr8:43140604

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
not specified
Condition: not provided
HGSNAT-related disorder

Criteria Provided
Conflicting Classifications

CA10631133

rs_886062952

7 SubmittersRCV000273849 RCV001083544 RCV001699401 RCV000675862 RCV003932503

NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser)

SNV
Germline

Chr8:43158617

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Inborn genetic diseases
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

CA4736466

rs_368452647

3 SubmittersRCV000316013 RCV004984855 RCV002058735

NM_152419.3(HGSNAT):c.371+15T>A

SNV
Germline

Chr8:43158726

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

CA4736492

rs_372920077

2 SubmittersRCV000266373 RCV003766091

NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)

SNV
Germline

Chr8:43140513

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10631204

rs_867446205

5 SubmittersRCV000370676 RCV000907228 RCV003889869 RCV004022074

NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)

SNV
Germline

Chr8:43147034

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Retinitis pigmentosa 73
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

CA4736446

rs_202001245

5 SubmittersRCV000355499 RCV003889870 RCV004799207 RCV000887168

NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)

SNV
Germline

Chr8:43158682

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4736487

rs_184883937

5 SubmittersRCV000372738 RCV001083633 RCV000675863 RCV002222495

NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=)

SNV
Germline

Chr8:43182212

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

CA4736742

rs_757385876

2 SubmittersRCV000376064 RCV002058736

NM_006269.2(RP1):c.3579C>T (p.His1193=)

SNV
Germline

Chr8:54627461

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4751713

rs_777012140

2 SubmittersRCV000345598 RCV002523686

NM_006269.2(RP1):c.3036G>C (p.Leu1012=)

SNV
Germline

Chr8:54626918

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4751628

rs_373971446

2 SubmittersRCV000284891 RCV000929928

NM_006269.2(RP1):c.4563C>T (p.Asn1521=)

SNV
Germline

Chr8:54628445

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4751902

rs_150524359

3 SubmittersRCV000318287 RCV003889873 RCV000964485

NM_002900.3(RBP3):c.258C>T (p.Arg86=)

SNV
Germline

Chr10:47348742

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
RBP3-related disorder

Criteria Provided
Conflicting Classifications

CA5487830

rs_376194840

3 SubmittersRCV000304815 RCV001486186 RCV003957561

NM_177965.4(CFAP418):c.450G>A (p.Ser150=)

SNV
Germline

Chr8:95252208

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 16
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4815138

rs_35141355

5 SubmittersRCV000327534 RCV000384966 RCV003889874 RCV001509849

NM_002900.3(RBP3):c.1323C>T (p.Tyr441=)

SNV
Germline

Chr10:47349807

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487553

rs_782282118

2 SubmittersRCV000320988 RCV002520590

NM_002900.3(RBP3):c.1674G>A (p.Ser558=)

SNV
Germline

Chr10:47350158

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487462

rs_372137106

2 SubmittersRCV000317370 RCV001493698

NM_002900.3(RBP3):c.1809C>T (p.Gly603=)

SNV
Germline

Chr10:47350293

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487421

rs_34044042

2 SubmittersRCV000370821 RCV000956821

NM_002900.3(RBP3):c.2121G>A (p.Glu707=)

SNV
Germline

Chr10:47350605

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
RBP3-related disorder

Criteria Provided
Conflicting Classifications

CA10631719

rs_886047017

3 SubmittersRCV000340217 RCV002059551 RCV003950008

NM_002900.3(RBP3):c.2481C>T (p.Pro827=)

SNV
Germline

Chr10:47350965

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487274

rs_782371726

2 SubmittersRCV000281267 RCV001424779

NM_002900.3(RBP3):c.3156C>T (p.Asp1052=)

SNV
Germline

Chr10:47353426

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487123

rs_756128531

2 SubmittersRCV000358605 RCV001454452

NM_002900.3(RBP3):c.3381G>A (p.Gln1127=)

SNV
Germline

Chr10:47355511

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487066

rs_113381589

2 SubmittersRCV000306182 RCV000974253

NM_177965.4(CFAP418):c.*2330C>T

SNV
Germline

Chr8:95245287

Conflicting classifications of pathogenicity

Cone-rod dystrophy 16
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10631813

rs_150859301

1 SubmittersRCV000286245 RCV000404169

NM_177965.4(CFAP418):c.528A>G (p.Thr176=)

SNV
Germline

Chr8:95247713

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 16
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4815118

rs_143748636

5 SubmittersRCV000323905 RCV000625262 RCV001701000 RCV000954269

NM_005802.5(TOPORS):c.2347G>C (p.Gly783Arg)

SNV
Germline

Chr9:32542178

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5020385

rs_148620735

3 SubmittersRCV000340814 RCV002058797 RCV002523788

NM_152443.3(RDH12):c.570C>T (p.Ser190=)

SNV
Germline

Chr14:67727102

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis
Leber congenital amaurosis 13
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7238750

rs_79869437

4 SubmittersRCV000346851 RCV001275433 RCV000951682 RCV001109349 RCV003888728

NM_004183.4(BEST1):c.813C>T (p.Leu271=)

SNV
Germline

Chr11:61958244

Conflicting classifications of pathogenicity

Vitelliform macular dystrophy 2
Retinitis pigmentosa
Autosomal dominant vitreoretinochoroidopathy
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6040859

rs_370397270

3 SubmittersRCV000282464 RCV000337607 RCV000399998 RCV001483602 RCV003888715

NM_004183.4(BEST1):c.954C>G (p.Ser318=)

SNV
Germline

Chr11:61959897

Conflicting classifications of pathogenicity

Vitelliform macular dystrophy 2
Retinitis pigmentosa
Autosomal dominant vitreoretinochoroidopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6040956

rs_144231113

2 SubmittersRCV000297886 RCV000361992 RCV000392100 RCV001500896

NM_017791.3(FLVCR2):c.953-15C>T

SNV
Germline

Chr14:75633614

Conflicting classifications of pathogenicity

Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7278390

rs_188707531

2 SubmittersRCV000406478 RCV003765829

NM_002900.3(RBP3):c.1806C>T (p.His602=)

SNV
Germline

Chr10:47350290

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5487423

rs_782049247

4 SubmittersRCV000273913 RCV001429406 RCV001729517

NM_002900.3(RBP3):c.1933C>T (p.His645Tyr)

SNV
Germline

Chr10:47350417

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487396

rs_138305522

2 SubmittersRCV000362609 RCV000900247

NM_002900.3(RBP3):c.2556C>T (p.Ala852=)

SNV
Germline

Chr10:47351040

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
RBP3-related disorder

Criteria Provided
Conflicting Classifications

CA5487254

rs_375422843

3 SubmittersRCV000387230 RCV001517656 RCV003930265

NM_002900.3(RBP3):c.3635C>T (p.Thr1212Ile)

SNV
Germline

Chr10:47357348

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5486997

rs_147796755

4 SubmittersRCV000336564 RCV001514049 RCV003888710

NM_018418.5(SPATA7):c.207G>A (p.Ser69=)

SNV
Germline

Chr14:88396172

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7298426

rs_142913613

3 SubmittersRCV000347324 RCV000397832 RCV003888729

NM_144596.4(TTC8):c.799-11C>T

SNV
Germline

Chr14:88861211

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 8
Retinitis pigmentosa
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA7302601

rs_768485587

2 SubmittersRCV000294859 RCV000352180 RCV002061168

NM_144596.4(TTC8):c.1463C>T (p.Ala488Val)

SNV
Germline

Chr14:88877325

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
not specified
Retinal dystrophy
TTC8-related disorder
Bardet-Biedl syndrome 8
Retinitis pigmentosa 51

Criteria Provided
Conflicting Classifications

CA7302781

rs_199649536

7 SubmittersRCV000300734 RCV000353073 RCV001094375 RCV001820932 RCV003888732 RCV003969880 RCV005010274

NM_002900.3(RBP3):c.717C>T (p.Ala239=)

SNV
Germline

Chr10:47349201

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487715

rs_146269396

2 SubmittersRCV000261360 RCV002059552

NM_002900.3(RBP3):c.1179A>G (p.Thr393=)

SNV
Germline

Chr10:47349663

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487587

rs_148615170

2 SubmittersRCV000290120 RCV001405063

NM_002900.3(RBP3):c.2616G>A (p.Thr872=)

SNV
Germline

Chr10:47351100

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487235

rs_570062125

2 SubmittersRCV000277626 RCV001450861

NM_002900.3(RBP3):c.2626G>T (p.Ala876Ser)

SNV
Germline

Chr10:47351110

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5487229

rs_138240045

3 SubmittersRCV000326768 RCV001511061 RCV002522157

NM_002900.3(RBP3):c.2871G>T (p.Leu957=)

SNV
Germline

Chr10:47351355

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487188

rs_377374761

2 SubmittersRCV000269261 RCV001422700

NM_002900.3(RBP3):c.3707G>A (p.Arg1236Lys)

SNV
Germline

Chr10:47357420

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5486984

rs_3740296

3 SubmittersRCV000297928 RCV001479563 RCV003888709

NM_022124.6(CDH23):c.5727T>C (p.Thr1909=)

SNV
Germline

Chr10:71785645

Conflicting classifications of pathogenicity

Retinitis pigmentosa-deafness syndrome
Condition: not provided
Hearing loss, autosomal recessive

Criteria Provided
Conflicting Classifications

CA5545861

rs_756919394

2 SubmittersRCV000270779 RCV001490330 RCV004577763

NM_014249.4(NR2E3):c.264G>T (p.Gly88=)

SNV
Germline

Chr15:71811784

Conflicting classifications of pathogenicity

Enhanced S-cone syndrome
Retinitis Pigmentosa, Recessive
Enhanced S-cone syndrome
Retinitis pigmentosa 37
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7640273

rs_558123422

5 SubmittersRCV000274461 RCV000331700 RCV000673033 RCV001121702 RCV000944344 RCV004816556

NM_014249.4(NR2E3):c.410C>T (p.Ser137Phe)

SNV
Germline

Chr15:71812015

Conflicting classifications of pathogenicity

Enhanced S-cone syndrome
Retinitis Pigmentosa, Recessive
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7640308

rs_767828150

3 SubmittersRCV000297664 RCV000369444 RCV001069768 RCV001119821 RCV003888733

NM_014249.4(NR2E3):c.572-13C>T

SNV
Germline

Chr15:71812323

Conflicting classifications of pathogenicity

Enhanced S-cone syndrome
Retinitis Pigmentosa, Recessive
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7640352

rs_376114936

2 SubmittersRCV000281903 RCV000334655 RCV001118389 RCV001850676

NM_014249.4(NR2E3):c.900G>A (p.Thr300=)

SNV
Germline

Chr15:71813541

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Enhanced S-cone syndrome
not specified
Condition: not provided
Retinitis pigmentosa
Goldmann-Favre syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7640426

rs_184906734

5 SubmittersRCV000312701 RCV000365213 RCV000594181 RCV000891564 RCV001121908 RCV001275382 RCV003888734

NM_014249.4(NR2E3):c.*231A>G

SNV
Germline

Chr15:71817915

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Enhanced S-cone syndrome
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10636501

rs_185349250

1 SubmittersRCV000316892 RCV000371512 RCV001120006

NM_000326.5(RLBP1):c.*356G>A

SNV
Germline

Chr15:89209929

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10636608

rs_190236976

1 SubmittersRCV000271341 RCV000301674 RCV000365778

NM_000326.5(RLBP1):c.924C>G (p.Pro308=)

SNV
Germline

Chr15:89210315

Conflicting classifications of pathogenicity

Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
Retinitis pigmentosa
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7722142

rs_144615495

5 SubmittersRCV000365727 RCV000307440 RCV000401519 RCV005434818 RCV000898905

NM_000326.5(RLBP1):c.795+15C>T

SNV
Germline

Chr15:89210684

Conflicting classifications of pathogenicity

Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
not specified
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7722190

rs_181863443

4 SubmittersRCV000284563 RCV000346536 RCV001000612 RCV001509871 RCV000394745

NM_000326.5(RLBP1):c.191G>A (p.Arg64Gln)

SNV
Germline

Chr15:89217275

Conflicting classifications of pathogenicity

Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Pigmentary retinal dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7722362

rs_201865787

3 SubmittersRCV000265453 RCV000305613 RCV000358016 RCV000905009 RCV003888737

NM_033100.4(CDHR1):c.783G>A (p.Pro261=)

SNV
Germline

Chr10:84203123

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Condition: not provided
Cone-rod dystrophy 15
Retinal dystrophy
not specified
Retinitis pigmentosa 65
Retinitis pigmentosa
CDHR1-related disorder
Macular dystrophy, retinal, 5
Optic atrophy

Criteria Provided
Conflicting Classifications

CA5579673

rs_147346345

20 SubmittersRCV000369498 RCV000487554 RCV000625429 RCV000787811 RCV000825304 RCV003221895 RCV001723886 RCV004748711 RCV003221896 RCV004816533

NM_014714.4(IFT140):c.22C>G (p.Gln8Glu)

SNV
Germline

Chr16:1607245

Conflicting classifications of pathogenicity

Retinal dystrophy
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814853

rs_145267929

4 SubmittersRCV001073365 RCV000407664 RCV002502238

NM_001042432.2(CLN3):c.837+5G>A

SNV
Germline

Chr16:28482621

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Neuronal ceroid lipofuscinosis
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7980808

rs_756848924

8 SubmittersRCV000286126 RCV001052203 RCV000504683 RCV000672125 RCV003278764

NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)

SNV
Germline

Chr16:56501371

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
not specified
BBS2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8065809

rs_766873519

7 SubmittersRCV000665273 RCV001850699 RCV005016707 RCV003488537 RCV004544576 RCV004694280

NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys)

SNV
Germline

Chr16:57884336

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 45
Retinal dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8082497

rs_201186180

6 SubmittersRCV000307175 RCV001000412 RCV004816561 RCV001519711 RCV001699364

NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr)

SNV
Germline

Chr16:57887896

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy
CNGB1-related retinopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8082571

rs_201449358

5 SubmittersRCV000376862 RCV003888751 RCV005355641 RCV001092933

NM_001297.5(CNGB1):c.3309G>A (p.Ala1103=)

SNV
Germline

Chr16:57888008

Conflicting classifications of pathogenicity

Retinitis pigmentosa
CNGB1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8082599

rs_201319323

3 SubmittersRCV000278783 RCV003920354 RCV002056503

NM_001297.5(CNGB1):c.2862C>T (p.Tyr954=)

SNV
Germline

Chr16:57901558

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8082796

rs_763416913

2 SubmittersRCV000364464 RCV001499720

NM_001297.5(CNGB1):c.1870G>C (p.Glu624Gln)

SNV
Germline

Chr16:57919186

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083252

rs_373159617

2 SubmittersRCV000263840 RCV002056505

NM_001297.5(CNGB1):c.1803C>A (p.Ser601=)

SNV
Germline

Chr16:57919253

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083272

rs_201290058

2 SubmittersRCV000368970 RCV001478643

NM_001297.5(CNGB1):c.1802-14A>G

SNV
Germline

Chr16:57919268

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083274

rs_751916833

2 SubmittersRCV000276667 RCV002061205

NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu)

SNV
Germline

Chr16:57923285

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8083377

rs_145234666

5 SubmittersRCV000328036 RCV000597493 RCV001075314

NM_001297.5(CNGB1):c.1482T>C (p.Ser494=)

SNV
Germline

Chr16:57931769

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083418

rs_769840807

2 SubmittersRCV000335048 RCV001464675

NM_001297.5(CNGB1):c.412+8C>A

SNV
Germline

Chr16:57962834

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 45

Criteria Provided
Conflicting Classifications

CA8083851

rs_185727761

6 SubmittersRCV000591254 RCV001512416 RCV000407586 RCV000625380

NM_004183.4(BEST1):c.152+6G>T

SNV
Germline

Chr11:61951964

Conflicting classifications of pathogenicity

Vitelliform macular dystrophy 2
Autosomal dominant vitreoretinochoroidopathy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6040680

rs_764420497

2 SubmittersRCV000300302 RCV000338835 RCV000407510 RCV001859813

NM_000327.4(ROM1):c.593G>A (p.Arg198Gln)

SNV
Germline

Chr11:62614260

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6049795

rs_141629524

3 SubmittersRCV000285910 RCV000520732

NM_006445.4(PRPF8):c.6801C>T (p.Phe2267=)

SNV
Germline

Chr17:1651160

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8271093

rs_755962697

2 SubmittersRCV000321567 RCV002056555

NM_006445.4(PRPF8):c.4022+15A>G

SNV
Germline

Chr17:1661891

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8271756

rs_370376159

2 SubmittersRCV000309571 RCV002056557

NM_006445.4(PRPF8):c.2680-9G>A

SNV
Germline

Chr17:1675821

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10638996

rs_886052614

2 SubmittersRCV000345387 RCV000936553

NM_006445.4(PRPF8):c.1869G>C (p.Lys623Asn)

SNV
Germline

Chr17:1677680

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8272227

rs_200389505

5 SubmittersRCV000276040 RCV001046592 RCV004021691 RCV004816564

NM_004183.4(BEST1):c.699A>G (p.Pro233=)

SNV
Germline

Chr11:61957449

Conflicting classifications of pathogenicity

Autosomal dominant vitreoretinochoroidopathy
Retinitis pigmentosa
Vitelliform macular dystrophy 2
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6040820

rs_760816505

3 SubmittersRCV000295807 RCV000350763 RCV000380916 RCV001497445 RCV003888714

NM_000327.4(ROM1):c.906G>A (p.Ala302=)

SNV
Germline

Chr11:62614689

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6049871

rs_200213584

2 SubmittersRCV000399347 RCV001203436

NM_000717.5(CA4):c.761A>C (p.Gln254Pro)

SNV
Germline

Chr17:60159246

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8685530

rs_150432787

2 SubmittersRCV000262451 RCV001210788

NM_014336.5(AIPL1):c.*221G>A

SNV
Germline

Chr17:6425239

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4
Retinitis Pigmentosa, Dominant

Criteria Provided
Conflicting Classifications

CA10640244

rs_112307858

1 SubmittersRCV000289957 RCV000347294 RCV000380964

NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser)

SNV
Germline

Chr17:6425507

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Dominant
Retinitis pigmentosa
Leber congenital amaurosis 4
Condition: not provided
Inborn genetic diseases
Leber congenital amaurosis 4
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8328309

rs_139079107

6 SubmittersRCV000344923 RCV000394165 RCV001047506 RCV000591606 RCV002523002 RCV002487427 RCV004816569

NM_014336.5(AIPL1):c.377T>A (p.Met126Lys)

SNV
Germline

Chr17:6428406

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 4
Retinitis Pigmentosa, Recessive
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA8328529

rs_761622978

4 SubmittersRCV000283711 RCV000343358 RCV000379251 RCV001074745 RCV003226280

NM_152443.3(RDH12):c.283C>T (p.Arg95Trp)

SNV
Germline

Chr14:67725194

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Retinitis pigmentosa
Leber congenital amaurosis 13
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7238660

rs_552516182

4 SubmittersRCV000381378 RCV001109345 RCV001850657 RCV003888726

NM_152443.3(RDH12):c.659-12T>C

SNV
Germline

Chr14:67729179

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 13
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7238784

rs_77686476

2 SubmittersRCV000408169 RCV001510147 RCV001109350

NM_152443.3(RDH12):c.662C>T (p.Thr221Ile)

SNV
Germline

Chr14:67729194

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis
Leber congenital amaurosis 13
Retinitis pigmentosa
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7238787

rs_769317754

4 SubmittersRCV000302468 RCV001275436 RCV000955105 RCV001111665 RCV002520913

NM_018418.5(SPATA7):c.387G>A (p.Pro129=)

SNV
Germline

Chr14:88426246

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 3
not specified

Criteria Provided
Conflicting Classifications

CA7298529

rs_199727517

3 SubmittersRCV000389308 RCV000952248 RCV005434815

NM_144596.4(TTC8):c.1491C>T (p.Asp497=)

SNV
Germline

Chr14:88877353

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA10641214

rs_886050878

2 SubmittersRCV000260562 RCV000332152 RCV002520928

NM_014249.4(NR2E3):c.119-8C>T

SNV
Germline

Chr15:71811475

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Enhanced S-cone syndrome
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7640210

rs_373874970

4 SubmittersRCV000302548 RCV000359676 RCV001118169 RCV001483388

NM_014249.4(NR2E3):c.245+9G>A

SNV
Germline

Chr15:71811618

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Condition: not provided
Retinitis pigmentosa
Goldmann-Favre syndrome
Enhanced S-cone syndrome

Criteria Provided
Conflicting Classifications

CA7640252

rs_538864090

3 SubmittersRCV000389820 RCV000900838 RCV001119730 RCV001275373 RCV000333078

NM_014249.4(NR2E3):c.444T>C (p.Ala148=)

SNV
Germline

Chr15:71812049

Conflicting classifications of pathogenicity

Enhanced S-cone syndrome
Retinitis Pigmentosa, Recessive
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7640311

rs_533192044

2 SubmittersRCV000271119 RCV000368328 RCV001449310 RCV001121809

NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)

SNV
Germline

Chr12:88089271

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712084

rs_139998038

11 SubmittersRCV000276434 RCV000289191 RCV000327895 RCV000333827 RCV000381363 RCV000557002 RCV001273076 RCV001555535 RCV001590930 RCV001074452 RCV002520840 RCV004544543

NM_000326.5(RLBP1):c.807C>T (p.His269=)

SNV
Germline

Chr15:89210432

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7722166

rs_62640017

2 SubmittersRCV000277113 RCV000329872 RCV000368076 RCV000906619

NM_000326.5(RLBP1):c.228G>A (p.Ser76=)

SNV
Germline

Chr15:89217238

Conflicting classifications of pathogenicity

Pigmentary retinal dystrophy
Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7722351

rs_202116993

2 SubmittersRCV000301015 RCV000335975 RCV000398049 RCV001458043

NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln)

SNV
Germline

Chr16:1520225

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7813040

rs_571556177

4 SubmittersRCV000278956 RCV002487400 RCV003165856

NM_000554.6(CRX):c.717C>A (p.Gly239=)

SNV
Germline

Chr19:47839784

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Conflicting Classifications

CA10643043

rs_886054546

2 SubmittersRCV000261856 RCV000319418 RCV000371926 RCV002057520

NM_000554.6(CRX):c.*595C>T

SNV
Germline

Chr19:47840562

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10643051

rs_111448395

1 SubmittersRCV000283255 RCV000342965 RCV000377666

NM_000554.6(CRX):c.*2039C>T

SNV
Germline

Chr19:47842006

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

CA10643083

rs_189556251

1 SubmittersRCV000307672 RCV000401185 RCV000361147

NM_000554.6(CRX):c.*2539C>T

SNV
Germline

Chr19:47842506

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10643087

rs_146417527

1 SubmittersRCV000282067 RCV000337066 RCV000395396

NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)

SNV
Germline

Chr16:1589637

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7814576

rs_369671309

4 SubmittersRCV000405837 RCV002494998 RCV003243074

NM_014714.4(IFT140):c.685G>A (p.Ala229Thr)

SNV
Germline

Chr16:1589730

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7814606

rs_555382397

4 SubmittersRCV000301773 RCV002494999 RCV002522825

NM_015629.3(PRPF31):c.-187C>A

SNV
Germline

Chr19:54115619

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309318693

rs_45619231

2 SubmittersRCV000302480 RCV002292527

NM_015629.4(PRPF31):c.177+7G>A

SNV
Germline

Chr19:54118462

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309320922

rs_886054618

2 SubmittersRCV000389451 RCV002057527

NM_025114.4(CEP290):c.503G>A (p.Arg168His)

SNV
Germline

Chr12:88130558

Conflicting classifications of pathogenicity

Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Retinitis pigmentosa
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
not specified
CEP290-related disorder
Retinal dystrophy
CEP290-related ciliopathy

Criteria Provided
Conflicting Classifications

CA6712768

rs_200063017

8 SubmittersRCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000787814 RCV000637006 RCV001275046 RCV003330639 RCV004537752 RCV003888725 RCV005355635

NM_006899.5(IDH3B):c.1132G>A (p.Gly378Ser)

SNV
Germline

Chr20:2658777

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9735039

rs_376112899

2 SubmittersRCV000347016 RCV001423796

NM_006899.5(IDH3B):c.684G>A (p.Leu228=)

SNV
Germline

Chr20:2660347

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9735200

rs_143110856

2 SubmittersRCV000260091 RCV001423091

NM_006899.5(IDH3B):c.252C>T (p.His84=)

SNV
Germline

Chr20:2663531

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA9735335

rs_139159095

4 SubmittersRCV000383200 RCV001523369 RCV001700070

NM_006899.5(IDH3B):c.66A>G (p.Ala22=)

SNV
Germline

Chr20:2663976

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10643690

rs_886056573

2 SubmittersRCV000304066 RCV005090532

NM_001297.5(CNGB1):c.3560G>A (p.Arg1187Gln)

SNV
Germline

Chr16:57884360

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA8082505

rs_543712958

7 SubmittersRCV000364070 RCV001358311 RCV002522880 RCV003922352

NM_001297.5(CNGB1):c.3340G>A (p.Ala1114Thr)

SNV
Germline

Chr16:57887977

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8082590

rs_200242407

4 SubmittersRCV000380180 RCV001519492 RCV003888753

NM_001297.5(CNGB1):c.2850C>T (p.Ile950=)

SNV
Germline

Chr16:57901570

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA8082801

rs_563734833

3 SubmittersRCV000301994 RCV001511923 RCV004757995

NM_001297.5(CNGB1):c.2844C>T (p.Leu948=)

SNV
Germline

Chr16:57901576

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA8082804

rs_376791249

3 SubmittersRCV000359095 RCV002056504 RCV003972366

NM_001297.5(CNGB1):c.2452C>A (p.Leu818Ile)

SNV
Germline

Chr16:57911793

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083004

rs_200323140

2 SubmittersRCV000288196 RCV001458432

NM_001297.5(CNGB1):c.2098C>T (p.Leu700Phe)

SNV
Germline

Chr16:57917336

Conflicting classifications of pathogenicity

Retinitis pigmentosa 45
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083178

rs_181974243

3 SubmittersRCV001000732 RCV000405494 RCV001451609

NM_001297.5(CNGB1):c.1435C>A (p.Leu479Ile)

SNV
Germline

Chr16:57931816

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
CNGB1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8083430

rs_2303783

4 SubmittersRCV000300738 RCV001522874 RCV003969905 RCV003888757

NM_001297.5(CNGB1):c.1275C>G (p.Ala425=)

SNV
Germline

Chr16:57939527

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA8083486

rs_376016716

5 SubmittersRCV000313594 RCV001517349 RCV001700058 RCV004757996

NM_001297.5(CNGB1):c.761+15A>G

SNV
Germline

Chr16:57959873

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083702

rs_187864931

2 SubmittersRCV000266798 RCV001523531

NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr)

SNV
Germline

Chr16:57964188

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Inborn genetic diseases
CNGB1-related disorder
Retinitis pigmentosa 45
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083935

rs_201407276

6 SubmittersRCV000309330 RCV002522881 RCV003910216 RCV001000923 RCV001430950

NM_001297.5(CNGB1):c.139G>A (p.Glu47Lys)

SNV
Germline

Chr16:57967148

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA8083997

rs_78149232

4 SubmittersRCV000264840 RCV001518526 RCV003888760 RCV003969906

NM_012469.4(PRPF6):c.616-7C>T

SNV
Germline

Chr20:63995320

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9971958

rs_368728762

2 SubmittersRCV000291159 RCV002057752

NM_012469.4(PRPF6):c.2779G>A (p.Gly927Arg)

SNV
Germline

Chr20:64032946

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9972600

rs_145731410

2 SubmittersRCV000300514 RCV001517956

NM_006445.4(PRPF8):c.6078C>T (p.Ile2026=)

SNV
Germline

Chr17:1653926

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8271263

rs_374672916

2 SubmittersRCV000394787 RCV001503011

NM_006445.4(PRPF8):c.5022C>T (p.His1674=)

SNV
Germline

Chr17:1659473

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8271538

rs_185936129

2 SubmittersRCV000336474 RCV001492737

NM_006445.4(PRPF8):c.4947-5C>T

SNV
Germline

Chr17:1659553

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8271544

rs_190909610

2 SubmittersRCV000399384 RCV002056556

NM_006445.4(PRPF8):c.3729C>T (p.Arg1243=)

SNV
Germline

Chr17:1673126

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8271805

rs_370510856

2 SubmittersRCV000273579 RCV003727676

NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser)

SNV
Germline

Chr17:1679645

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Dominant
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8272407

rs_142411659

4 SubmittersRCV000282758 RCV004816565 RCV001055390

NM_006445.4(PRPF8):c.360C>T (p.Tyr120=)

SNV
Germline

Chr17:1682203

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8272653

rs_764798990

2 SubmittersRCV000349213 RCV001447736

NM_018418.5(SPATA7):c.372+11A>G

SNV
Germline

Chr14:88416855

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7298502

rs_757636745

2 SubmittersRCV000260674 RCV000355596

NM_018418.5(SPATA7):c.1216-4C>T

SNV
Germline

Chr14:88437834

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7298777

rs_755958987

4 SubmittersRCV000313262 RCV000402357 RCV001699358

NM_144596.4(TTC8):c.*83A>G

SNV
Germline

Chr14:88877493

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 8
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10645222

rs_147325843

1 SubmittersRCV000273618 RCV000389074

NM_152443.3(RDH12):c.*54G>C

SNV
Germline

Chr14:67733902

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10645773

rs_535737403

1 SubmittersRCV000353116 RCV001111670

NM_006915.3(RP2):c.650A>G (p.Asn217Ser)

SNV
Germline

ChrX:46854023

Conflicting classifications of pathogenicity

Retinitis pigmentosa 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10394230

rs_781878275

2 SubmittersRCV000271838 RCV001373667

NM_017791.3(FLVCR2):c.286A>G (p.Met96Val)

SNV
Germline

Chr14:75579258

Conflicting classifications of pathogenicity

Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7278189

rs_199805789

2 SubmittersRCV000320971 RCV002522332

NM_000717.5(CA4):c.258C>T (p.Asn86=)

SNV
Germline

Chr17:60156705

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA8685274

rs_185476073

7 SubmittersRCV000398754 RCV000507639 RCV003888772 RCV001795944

NM_000717.5(CA4):c.681G>A (p.Pro227=)

SNV
Germline

Chr17:60158383

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8685481

rs_144467811

2 SubmittersRCV000277486 RCV001423361

NM_018418.5(SPATA7):c.57G>T (p.Pro19=)

SNV
Germline

Chr14:88391418

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 3

Criteria Provided
Conflicting Classifications

CA7298357

rs_367830780

2 SubmittersRCV000279037 RCV000886701

NM_018418.5(SPATA7):c.913-14T>A

SNV
Germline

Chr14:88429334

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 3

Criteria Provided
Conflicting Classifications

CA7298648

rs_185459765

2 SubmittersRCV000283045 RCV000395762

NM_014336.5(AIPL1):c.*390G>T

SNV
Germline

Chr17:6425070

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Retinitis Pigmentosa, Dominant
Retinitis Pigmentosa, Recessive

Criteria Provided
Conflicting Classifications

CA10646487

rs_182504714

1 SubmittersRCV000263799 RCV000316870 RCV000387721

NM_144596.4(TTC8):c.5G>A (p.Ser2Asn)

SNV
Germline

Chr14:88824712

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Bardet-Biedl syndrome 8
Retinal dystrophy
Bardet-Biedl syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7302304

rs_199571677

4 SubmittersRCV000304181 RCV000360976 RCV003888731 RCV001859883 RCV004678676

NM_014336.5(AIPL1):c.*134G>T

SNV
Germline

Chr17:6425326

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4
Retinitis Pigmentosa, Recessive

Criteria Provided
Conflicting Classifications

CA10646499

rs_2090068

1 SubmittersRCV000270465 RCV000306814 RCV000369874

NM_014336.5(AIPL1):c.616A>G (p.Ile206Val)

SNV
Germline

Chr17:6426907

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Retinitis Pigmentosa, Recessive
Retinitis Pigmentosa, Dominant

Criteria Provided
Conflicting Classifications

CA8328457

rs_772911646

2 SubmittersRCV000300735 RCV000355535 RCV000400033

NM_144596.4(TTC8):c.330-15T>A

SNV
Germline

Chr14:88841022

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA7302443

rs_187484893

2 SubmittersRCV000263140 RCV000373889 RCV001519327

NM_014249.4(NR2E3):c.349+8G>A

SNV
Germline

Chr15:71811877

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Enhanced S-cone syndrome
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7640289

rs_112520386

5 SubmittersRCV000303540 RCV000399136 RCV001118292 RCV000887757

NM_014249.4(NR2E3):c.455C>T (p.Pro152Leu)

SNV
Germline

Chr15:71812060

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Retinitis pigmentosa
Enhanced S-cone syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7640315

rs_371853056

4 SubmittersRCV000362162 RCV001121810 RCV000328481 RCV004955417 RCV001055090

NM_000326.5(RLBP1):c.796-7C>G

SNV
Germline

Chr15:89210450

Conflicting classifications of pathogenicity

Pigmentary retinal dystrophy
Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7722171

rs_74029958

2 SubmittersRCV000286075 RCV000324799 RCV000377048 RCV000965306

NM_000326.5(RLBP1):c.306A>C (p.Ala102=)

SNV
Germline

Chr15:89217160

Conflicting classifications of pathogenicity

Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA7722327

rs_143817941

6 SubmittersRCV000290055 RCV000328618 RCV000381007 RCV000906178 RCV003888736 RCV001726111

NM_000326.5(RLBP1):c.141+6G>A

SNV
Germline

Chr15:89218559

Conflicting classifications of pathogenicity

Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Pigmentary retinal dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7722385

rs_181321141

6 SubmittersRCV000269106 RCV000308882 RCV000365930 RCV000728603 RCV001699363

NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu)

SNV
Germline

Chr16:1520682

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7813109

rs_555330165

3 SubmittersRCV000390334 RCV005010280

NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys)

SNV
Germline

Chr16:1524846

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
IFT140-related disorder
Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7813415

rs_146277966

5 SubmittersRCV000395263 RCV004752851 RCV003888741 RCV005016697

NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)

SNV
Germline

Chr16:1587968

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
IFT140-related disorder

Criteria Provided
Conflicting Classifications

CA7814525

rs_145858131

5 SubmittersRCV000281495 RCV002487403 RCV003165857 RCV004752852

NM_014714.4(IFT140):c.298C>G (p.Leu100Val)

SNV
Germline

Chr16:1602441

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814755

rs_546498421

3 SubmittersRCV000346557 RCV002495000

NM_000326.5(RLBP1):c.875C>T (p.Thr292Met)

SNV
Germline

Chr15:89210364

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7722155

rs_201588178

3 SubmittersRCV000369084 RCV001203836 RCV003888735

NM_000326.5(RLBP1):c.796-6C>T

SNV
Germline

Chr15:89210449

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
Condition: not provided
RLBP1-related disorder

Criteria Provided
Conflicting Classifications

CA7722170

rs_201866933

3 SubmittersRCV000261796 RCV000316533 RCV000373444 RCV000904552 RCV004537790

NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys)

SNV
Germline

Chr16:56496983

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8065597

rs_200021475

6 SubmittersRCV000326249 RCV001094468 RCV002487413 RCV004816560

NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)

SNV
Germline

Chr16:1510952

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Cleft palate

Criteria Provided
Conflicting Classifications

CA7812764

rs_201065562

5 SubmittersRCV000334851 RCV002494994 RCV002520984 RCV005625546

NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu)

SNV
Germline

Chr16:1520216

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7813038

rs_775044452

3 SubmittersRCV000389559 RCV003335305

NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)

SNV
Germline

Chr16:1520660

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Microcephaly
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7813098

rs_147292597

5 SubmittersRCV000362113 RCV001252753 RCV002494995 RCV003888738

NM_001297.5(CNGB1):c.3366G>A (p.Lys1122=)

SNV
Germline

Chr16:57887951

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8082588

rs_751822516

2 SubmittersRCV000323178 RCV001511237

NM_001297.5(CNGB1):c.2091A>G (p.Leu697=)

SNV
Germline

Chr16:57917343

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083183

rs_767102177

2 SubmittersRCV000304973 RCV002521059

NM_001297.5(CNGB1):c.1770C>G (p.Asp590Glu)

SNV
Germline

Chr16:57920418

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8083305

rs_770735553

3 SubmittersRCV000334121 RCV002061206 RCV005540055

NM_001297.5(CNGB1):c.1500C>T (p.Thr500=)

SNV
Germline

Chr16:57931751

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083413

rs_75406397

2 SubmittersRCV000393811 RCV001519638

NM_001297.5(CNGB1):c.-47A>G

SNV
Germline

Chr16:57971098

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10647888

rs_186471030

3 SubmittersRCV000268503 RCV000755935

NM_006445.4(PRPF8):c.2790C>T (p.Ala930=)

SNV
Germline

Chr17:1675702

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8272050

rs_779910932

2 SubmittersRCV000304581 RCV001477123

NM_001297.5(CNGB1):c.3717G>T (p.Ser1239=)

SNV
Germline

Chr16:57884203

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8082466

rs_202083169

2 SubmittersRCV000313088 RCV001520986

NM_001297.5(CNGB1):c.3147C>T (p.His1049=)

SNV
Germline

Chr16:57897492

Conflicting classifications of pathogenicity

Retinitis pigmentosa
CNGB1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8082658

rs_200581517

4 SubmittersRCV000374100 RCV003920355 RCV000960074

NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu)

SNV
Germline

Chr16:57901567

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8082799

rs_7190978

4 SubmittersRCV000272670 RCV000755934

NM_001297.5(CNGB1):c.2700G>A (p.Thr900=)

SNV
Germline

Chr16:57903916

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Conflicting Classifications

CA8082855

rs_72782250

4 SubmittersRCV000324085 RCV000955137 RCV001001677

NM_001297.5(CNGB1):c.1854C>T (p.Ala618=)

SNV
Germline

Chr16:57919202

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083258

rs_572930933

2 SubmittersRCV000330684 RCV001427439

NM_001297.5(CNGB1):c.1500C>G (p.Thr500=)

SNV
Germline

Chr16:57931751

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083414

rs_75406397

2 SubmittersRCV000287088 RCV001403518

NM_000554.6(CRX):c.28C>G (p.His10Asp)

SNV
Germline

Chr19:47834471

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Condition: not provided
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA9544368

rs_139340178

7 SubmittersRCV000280624 RCV000401704 RCV000878021 RCV001087610 RCV000787830 RCV004816570

NM_000554.6(CRX):c.*996C>G

SNV
Germline

Chr19:47840963

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10648904

rs_550939154

1 SubmittersRCV000271568 RCV000328839 RCV000363813

NM_000554.6(CRX):c.*1917G>A

SNV
Germline

Chr19:47841884

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10648925

rs_557773336

1 SubmittersRCV000278381 RCV000351076 RCV000389164

NM_000554.6(CRX):c.*2739G>A

SNV
Germline

Chr19:47842706

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10648928

rs_149039830

1 SubmittersRCV000295144 RCV000335037 RCV000389522

NM_015629.4(PRPF31):c.207G>A (p.Glu69=)

SNV
Germline

Chr19:54118602

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309321157

rs_886054619

2 SubmittersRCV000293184 RCV002521251

NM_015629.4(PRPF31):c.855+12G>A

SNV
Germline

Chr19:54124668

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309326200

rs_763372742

2 SubmittersRCV000304059 RCV003765908

NM_015629.4(PRPF31):c.1147-5C>G

SNV
Germline

Chr19:54129052

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309330501

rs_587757028

2 SubmittersRCV000272373 RCV002057531

NM_006899.5(IDH3B):c.916-10C>T

SNV
Germline

Chr20:2659803

Conflicting classifications of pathogenicity

Retinitis pigmentosa
IDH3B-related disorder
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA9735135

rs_202127751

4 SubmittersRCV000318929 RCV003932348 RCV002057730 RCV004816585

NM_006899.5(IDH3B):c.522G>T (p.Leu174=)

SNV
Germline

Chr20:2660706

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9735270

rs_778097475

3 SubmittersRCV000386679 RCV000591163

NM_006899.5(IDH3B):c.426A>G (p.Val142=)

SNV
Germline

Chr20:2660802

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9735283

rs_760619105

2 SubmittersRCV000292272 RCV005090531

NM_006445.4(PRPF8):c.3009C>T (p.His1003=)

SNV
Germline

Chr17:1675203

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8272000

rs_149785500

2 SubmittersRCV000285493 RCV001408455

NM_006445.4(PRPF8):c.283A>G (p.Met95Val)

SNV
Germline

Chr17:1682280

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8272663

rs_373157040

3 SubmittersRCV000397001 RCV002522915 RCV002061216

NM_014336.5(AIPL1):c.*1178C>T

SNV
Germline

Chr17:6424282

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Retinitis Pigmentosa, Dominant
Retinitis Pigmentosa, Recessive

Criteria Provided
Conflicting Classifications

CA10649826

rs_149460055

1 SubmittersRCV000283429 RCV000323291 RCV000380213

NM_014336.5(AIPL1):c.780C>T (p.His260=)

SNV
Germline

Chr17:6426619

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Retinitis Pigmentosa, Dominant
Condition: not provided
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA8328403

rs_145304845

5 SubmittersRCV000267113 RCV000361638 RCV000878128 RCV001087156

NM_014336.5(AIPL1):c.414C>T (p.Asp138=)

SNV
Germline

Chr17:6428369

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA8328519

rs_565896898

2 SubmittersRCV000276531 RCV000326868 RCV000381302

NM_014336.5(AIPL1):c.97-15C>T

SNV
Germline

Chr17:6434113

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Dominant
Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA8328627

rs_190887679

2 SubmittersRCV000259688 RCV000317213 RCV000355617

NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)

SNV
Germline

Chr17:38327594

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Congenital stationary night blindness 1E
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10650013

rs_200936863

9 SubmittersRCV000787911 RCV001706517 RCV000625275 RCV004816567 RCV000730168

NM_012469.4(PRPF6):c.1566C>T (p.Cys522=)

SNV
Germline

Chr20:64016764

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9972222

rs_367582115

2 SubmittersRCV000359036 RCV002057754

NM_000717.5(CA4):c.415A>T (p.Met139Leu)

SNV
Germline

Chr17:60157690

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
CA4-related disorder

Criteria Provided
Conflicting Classifications

CA8685357

rs_185658468

5 SubmittersRCV000757049 RCV000366585 RCV003888774 RCV003940282

NM_014336.5(AIPL1):c.*1237C>T

SNV
Germline

Chr17:6424223

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Dominant
Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA10650669

rs_139074266

1 SubmittersRCV000277065 RCV000298029 RCV000369144

NM_014336.5(AIPL1):c.*824G>C

SNV
Germline

Chr17:6424636

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4
Retinitis Pigmentosa, Dominant

Criteria Provided
Conflicting Classifications

CA10650670

rs_145706166

1 SubmittersRCV000280028 RCV000372318 RCV000351354

NM_014336.5(AIPL1):c.*188G>A

SNV
Germline

Chr17:6425272

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA10650672

rs_1317185

1 SubmittersRCV000290656 RCV000340884 RCV000395852

NM_014336.5(AIPL1):c.785-11G>A

SNV
Germline

Chr17:6425841

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Retinitis pigmentosa
Retinitis Pigmentosa, Dominant

Criteria Provided
Conflicting Classifications

CA8328384

rs_199772097

2 SubmittersRCV000302382 RCV000310663 RCV000398512

NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser)

SNV
Germline

Chr17:6426662

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis Pigmentosa, Dominant
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA8328414

rs_138585919

4 SubmittersRCV000332251 RCV000385713 RCV001075005 RCV003456394 RCV000981801

NM_014336.5(AIPL1):c.642+14G>A

SNV
Germline

Chr17:6426867

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA8328448

rs_188779461

2 SubmittersRCV000284443 RCV000339003 RCV000403542

NM_000554.6(CRX):c.*6G>A

SNV
Germline

Chr19:47839973

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Conflicting Classifications

CA9544590

rs_375770558

1 SubmittersRCV000283331 RCV000340719 RCV000383663

NM_006899.5(IDH3B):c.1014T>C (p.Leu338=)

SNV
Germline

Chr20:2659582

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10652425

rs_886056569

2 SubmittersRCV000303339 RCV001462884

NM_000554.6(CRX):c.*118C>A

SNV
Germline

Chr19:47840085

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10652624

rs_543729483

1 SubmittersRCV000293631 RCV000401350 RCV000348576

NM_000554.6(CRX):c.*767G>A

SNV
Germline

Chr19:47840734

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

CA10652632

rs_544037698

1 SubmittersRCV000311981 RCV000352814 RCV000390415

NM_000554.6(CRX):c.*2137G>A

SNV
Germline

Chr19:47842104

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Conflicting Classifications

CA10652641

rs_181823708

1 SubmittersRCV000279799 RCV000318530 RCV000372070

NM_015629.4(PRPF31):c.697+10C>T

SNV
Germline

Chr19:54123928

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309325385

rs_369722854

2 SubmittersRCV000335195 RCV002057528

NM_015629.4(PRPF31):c.855+14G>A

SNV
Germline

Chr19:54124670

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA309326222

rs_370512426

2 SubmittersRCV002057529 RCV000342676

NM_006899.5(IDH3B):c.399-12G>T

SNV
Germline

Chr20:2660841

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9735290

rs_781697514

2 SubmittersRCV000347329 RCV002523154

NM_012469.4(PRPF6):c.57G>A (p.Pro19=)

SNV
Germline

Chr20:63981302

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9971774

rs_779283679

2 SubmittersRCV000323532 RCV004597784

NM_012469.4(PRPF6):c.616-10T>G

SNV
Germline

Chr20:63995317

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9971957

rs_376559986

2 SubmittersRCV000383164 RCV002057751

NM_012469.4(PRPF6):c.1164A>G (p.Ala388=)

SNV
Germline

Chr20:64001217

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
PRPF6-related disorder

Criteria Provided
Conflicting Classifications

CA9972103

rs_201984924

3 SubmittersRCV000313487 RCV001513252 RCV003932358

NM_012469.4(PRPF6):c.1944C>T (p.Ala648=)

SNV
Germline

Chr20:64025974

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9972337

rs_151332876

3 SubmittersRCV000381203 RCV003888815 RCV000914708

NM_001354768.3(NRL):c.91C>T (p.Arg31Ter)

SNV
Germline

Chr14:24082758

Pathogenic/Likely pathogenic

Enhanced S-cone syndrome
Retinitis pigmentosa 27
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7122928

rs_762991211

4 SubmittersRCV000408517 RCV001782861 RCV002524611

NM_001297.5(CNGB1):c.2893-7G>A

SNV
Germline

Chr16:57901442

Pathogenic/Likely pathogenic

Retinitis pigmentosa 45
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA8082767

rs_749199721

7 SubmittersRCV000408898 RCV001199469 RCV000513315 RCV004816631

NM_017739.4(POMGNT1):c.236-1G>T

SNV
Germline

Chr1:46196850

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA16040756

rs_1057516477

4 SubmittersRCV001377077 RCV003463789 RCV005018701

NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)

SNV
Germline

Chr3:150928016

Pathogenic

Usher syndrome type 3A
Condition: not provided
Retinitis pigmentosa 61
Retinitis pigmentosa 61
Usher syndrome type 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA2666003

rs_373208120

5 SubmittersRCV001273480 RCV001065581 RCV003470355 RCV005004142

NM_001173990.3(TMEM216):c.35-2A>G

SNV
Germline

Chr11:61393229

Likely pathogenic

Meckel syndrome, type 2
Joubert syndrome 2
Retinitis pigmentosa 98
Meckel syndrome, type 2
Joubert syndrome 2
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041470

rs_1057517528

5 SubmittersRCV000409368 RCV000410496 RCV004776284 RCV005049540 RCV002524628

NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)

SNV
Germline

Chr11:66515586

Pathogenic

Retinitis pigmentosa
Bardet-Biedl syndrome 1
Condition: not provided
Bardet-Biedl syndrome
Retinal dystrophy
BBS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6123351

rs_376894444

17 SubmittersRCV000504813 RCV000411434 RCV001092069 RCV001387773 RCV001074216 RCV003922662

NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)

SNV
Germline

Chr16:56501014

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Condition: not provided
Retinal dystrophy
BBS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8065780

rs_147030232

13 SubmittersRCV000411465 RCV001069542 RCV000762966 RCV001571149 RCV003889878 RCV004530497

NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter)

SNV
Germline

Chr1:215675220

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA16042307

rs_1057517844

3 SubmittersRCV000412996 RCV001074515 RCV003449036

NM_206933.4(USH2A):c.486-14G>A

SNV
Germline

Chr1:216418693

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1396771

rs_374536346

11 SubmittersRCV000678652 RCV000414183 RCV000673542 RCV001075754 RCV001828379

NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)

SNV
Germline

Chr1:197427831

Pathogenic/Likely pathogenic

not specified
Leber congenital amaurosis 1
Retinal dystrophy
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Hereditary macular dystrophy
Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1312130

rs_116471343

14 SubmittersRCV000414087 RCV000986491 RCV001073689 RCV001376383 RCV001064315 RCV003475999 RCV005355703 RCV001810876 RCV005010304 RCV003137989 RCV004739713

NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter)

SNV
Germline

Chr1:94060709

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 19
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA16042332

rs_865990202

7 SubmittersRCV000414150 RCV001353030 RCV004816637 RCV005027469

NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp)

SNV
Germline

Chr1:197477719

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312549

rs_760100325

3 SubmittersRCV000414607 RCV001207041 RCV001828387

NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter)

SNV
Germline

Chr1:94062680

Pathogenic

Condition: not provided
Retinitis pigmentosa 19
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16042375

rs_1057517700

5 SubmittersRCV000414682 RCV002272222 RCV004816636

NM_000188.3(HK1):c.1370C>T (p.Thr457Met)

SNV
Germline

Chr10:69382591

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4G
Retinitis pigmentosa 79
Hemolytic anemia due to hexokinase deficiency
Neurodevelopmental disorder with visual defects and brain anomalies
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16042708

rs_1057517928

11 SubmittersRCV000413860 RCV000763213 RCV000850129 RCV001266327

NM_152419.3(HGSNAT):c.1102A>T (p.Lys368Ter)

SNV
Germline

Chr8:43182234

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA16042729

rs_954238515

2 SubmittersRCV000414027 RCV001389727

NM_000329.3(RPE65):c.1338+1G>A

SNV
Germline

Chr1:68431281

Pathogenic

Abnormality of vision
Abnormal electroretinogram
Congenital blindness
Retinal degeneration
Retinitis pigmentosa 20
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinal dystrophy
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA16043370

rs_1057518922

6 SubmittersRCV000415360 RCV001198362 RCV001066256 RCV003470368 RCV004816644 RCV005033948 RCV005252881

NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro)

SNV
Unknown

Chr7:128398560

Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 11

Criteria Provided
Single Submitter

CA16043423

rs_1057518949

1 SubmittersRCV000415244 RCV001198950

NM_001386393.1(PANK2):c.564G>A (p.Met188Ile)

SNV
Unknown

Chr20:3908191

Pathogenic

Neurodegeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

Criteria Provided
Single Submitter

CA16043564

rs_1057518915

1 SubmittersRCV000415370 RCV001196626

NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp)

SNV
Germline

Chr20:3910664

Pathogenic

Neurodegeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Pigmentary pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA9750761

rs_753376100

4 SubmittersRCV000414787 RCV001196627 RCV003401407

NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter)

SNV
Germline

Chr8:43192413

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA16043726

rs_1057518644

3 SubmittersRCV000415469 RCV002521465

NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)

SNV
Germline

Chr1:68446825

Pathogenic

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related disorder
RPE65-related recessive retinopathy
Retinal dystrophy

Reviewed By Expert Panel

CA902588

rs_368088025

13 SubmittersRCV000787883 RCV000416243 RCV003470371 RCV000528380 RCV001275339 RCV001249416 RCV002466496 RCV003889879

NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)

SNV
Germline

Chr1:215970699

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
not specified
Retinal dystrophy
USH2A-related disorder
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1395009

rs_768253909

8 SubmittersRCV000416248 RCV001271992 RCV002488860 RCV000602087 RCV004816648 RCV003330661 RCV003389472

NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)

SNV
Germline

Chr1:215759786

Pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA16043841

rs_1057519193

7 SubmittersRCV001074930 RCV000416074 RCV000671186 RCV003449038 RCV003449039

NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe)

SNV
Germline

Chr1:197429518

Conflicting classifications of pathogenicity

Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Inborn genetic diseases
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312198

rs_140648074

6 SubmittersRCV000415891 RCV001270085 RCV001563885 RCV002521478 RCV001242512 RCV001563884 RCV001828390

NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)

SNV
Germline

Chr1:94108649

Conflicting classifications of pathogenicity

Condition: not provided
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA958855

rs_138359497

4 SubmittersRCV000416105 RCV000764208

NM_014053.4(FLVCR1):c.1092+5G>A

SNV
Germline

Chr1:212883443

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Posterior column ataxia-retinitis pigmentosa syndrome
Retinal dystrophy
FLVCR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1386046

rs_556788423

15 SubmittersRCV000415829 RCV003324526 RCV000986509 RCV001075766 RCV003418102

NM_138393.4(REEP6):c.404T>C (p.Leu135Pro)

SNV
Germline

Chr19:1496340

Likely pathogenic

Retinitis pigmentosa 77
Condition: not provided

Criteria Provided
Single Submitter

CA16044006

rs_1057519316

2 SubmittersRCV000415663 RCV001377424

NM_138393.4(REEP6):c.383C>T (p.Pro128Leu)

SNV
Germline

Chr19:1496319

Pathogenic

Retinitis pigmentosa 77

No Assertion Criteria Provided

CA16044007

rs_1057519317

1 SubmittersRCV000415637

NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter)

SNV
Germline

Chr4:15478783

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA16603252

rs_896947430

6 SubmittersRCV000423378 RCV003766188 RCV004586704 RCV005252887

NM_012418.4(FSCN2):c.829G>A (p.Val277Ile)

SNV
Germline

Chr17:81535054

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa 30

Criteria Provided
Conflicting Classifications

CA8836893

rs_181420326

5 SubmittersRCV000423345 RCV004022273 RCV000764149

NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)

SNV
Germline

Chr1:215680159

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1393508

rs_759898765

9 SubmittersRCV001271125 RCV000435312 RCV001073281 RCV003449048

NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)

SNV
Germline

Chr1:216324269

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA16603533

rs_397517979

12 SubmittersRCV000438959 RCV000589870 RCV001833524 RCV004816656 RCV000667167

NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)

SNV
Germline

Chr1:215970645

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome
Cone-rod dystrophy 3
USH2A-related disorder
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1394996

rs_199840367

17 SubmittersRCV000432643 RCV001003268 RCV001074794 RCV001095706 RCV002271497 RCV002272234 RCV004533027 RCV005018729 RCV003992295

NM_206933.4(USH2A):c.2994-10T>G

SNV
Germline

Chr1:216217560

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1396106

rs_748702655

4 SubmittersRCV000427561 RCV001405836 RCV003445987 RCV003445988

NM_000350.3(ABCA4):c.5898+1G>A

SNV
Germline

Chr1:94008234

Pathogenic

Condition: not provided
Retinal dystrophy
Stargardt disease
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA16603700

rs_61750638

5 SubmittersRCV000438611 RCV001075185 RCV005055959 RCV001723980

NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val)

SNV
Germline

Chr1:94055161

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16603706

rs_779466403

4 SubmittersRCV000430954 RCV000787485 RCV001074641

NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)

SNV
Germline

Chr1:94001071

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA16044110

rs_1057520213

6 SubmittersRCV000432926 RCV001074499 RCV004586705 RCV005027484

NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)

SNV
Germline

Chr1:94029621

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA957621

rs_758835368

7 SubmittersRCV000443223 RCV000505057 RCV001075739 RCV000779004 RCV005027483

NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)

SNV
Germline

Chr1:94011274

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA957222

rs_371489809

6 SubmittersRCV000421632 RCV002289547 RCV003224874 RCV002480281 RCV004816654

NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)

SNV
Germline

Chr1:94077713

Pathogenic/Likely pathogenic

Condition: not provided
ABCA4-related disorder
Retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA958502

rs_752786160

12 SubmittersRCV000429156 RCV000779006 RCV001074731 RCV002250625 RCV002272229 RCV005235274 RCV005355712 RCV004819223

NM_015662.3(IFT172):c.1525-6C>G

SNV
Germline

Chr2:27471101

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1580594

rs_201231401

5 SubmittersRCV000433325 RCV000877807 RCV002506060 RCV001727724

NM_015662.3(IFT172):c.1036C>T (p.Arg346Ter)

SNV
Germline

Chr2:27478126

Pathogenic/Likely pathogenic

Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Multiple Submitters
No Conflicts

CA1580787

rs_201862538

2 SubmittersRCV000428220 RCV001865399

NM_015662.3(IFT172):c.3530+7T>C

SNV
Germline

Chr2:27454347

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1579959

rs_150882197

7 SubmittersRCV000420574 RCV000951825 RCV001572918

NM_201548.5(CERKL):c.157G>A (p.Glu53Lys)

SNV
Germline

Chr2:181656850

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 26
CERKL-related disorder

Criteria Provided
Conflicting Classifications

CA2010938

rs_141389059

5 SubmittersRCV000419430 RCV001138252 RCV001271350 RCV004755919

NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln)

SNV
Germline

Chr2:29071398

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
PCARE-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1592097

rs_184249075

8 SubmittersRCV000424122 RCV001143262 RCV003902595 RCV003889890

NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=)

SNV
Germline

Chr4:15563475

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA2864082

rs_371608031

4 SubmittersRCV000442925 RCV001402263 RCV000765760 RCV005027492

NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln)

SNV
Germline

Chr4:15502865

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
CC2D2A-related disorder
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2863395

rs_748886997

5 SubmittersRCV000424373 RCV001147864 RCV002063654 RCV001147863 RCV004732884 RCV005033960

NM_001378615.1(CC2D2A):c.3014+4A>C

SNV
Germline

Chr4:15560626

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2864050

rs_748451478

5 SubmittersRCV000435852 RCV000524961 RCV004533116 RCV005033954 RCV002522611

NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro)

SNV
Germline

Chr4:16009051

Conflicting classifications of pathogenicity

Condition: not provided
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinitis pigmentosa
Stargardt disease 4

Criteria Provided
Conflicting Classifications

CA2866836

rs_140682455

3 SubmittersRCV000431346 RCV001147773 RCV001147772 RCV001147774 RCV001151114

NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)

SNV
Germline

Chr4:660579

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 40
Congenital stationary night blindness autosomal dominant 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2794577

rs_760766981

9 SubmittersRCV000427120 RCV000504854 RCV000845026 RCV001154208 RCV004816655

NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr)

SNV
Germline

Chr11:61959997

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant vitreoretinochoroidopathy
Vitelliform macular dystrophy 2
Autosomal recessive bestrophinopathy
Retinitis pigmentosa
Retinal dystrophy
BEST1-related dominant retinopathy

Criteria Provided
Conflicting Classifications

CA6040973

rs_147409760

9 SubmittersRCV001060186 RCV001106450 RCV001105324 RCV002466499 RCV001105325 RCV003889889 RCV005365288

NM_014714.4(IFT140):c.386T>G (p.Leu129Trp)

SNV
Germline

Chr16:1592572

Conflicting classifications of pathogenicity

Condition: not provided
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
not specified
IFT140-related disorder

Criteria Provided
Conflicting Classifications

CA7814712

rs_773768491

5 SubmittersRCV000421972 RCV001861628 RCV002506076 RCV003155180 RCV003902618

NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)

SNV
Germline

Chr6:63984462

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16609553

rs_1060499783

9 SubmittersRCV000454133 RCV001003017 RCV001242418 RCV003889894

NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser)

SNV
Germline

Chr2:112022343

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 38
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1831830

rs_141361084

8 SubmittersRCV000454548 RCV000727047 RCV001331567 RCV004816671

NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter)

SNV
Germline

Chr4:15527564

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 1
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA2863622

rs_757208121

3 SubmittersRCV000456449 RCV000987416 RCV005027531

NM_001034853.2(RPGR):c.1366C>T (p.Gln456Ter)

SNV
Germline

ChrX:38297332

Pathogenic

Primary ciliary dyskinesia
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

CA16616540

rs_1060501181

2 SubmittersRCV000473079 RCV001591081

NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)

SNV
Germline

ChrX:38287906

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
X-linked cone-rod dystrophy 1
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Macular degeneration, X-linked atrophic
Retinitis pigmentosa 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10385420

rs_768169831

4 SubmittersRCV000468234 RCV002496810 RCV003128244

NM_001367823.1(ARHGEF18):c.1372A>G (p.Thr458Ala)

SNV
Germline

Chr19:7444215

Likely pathogenic

Retinitis pigmentosa 78
Condition: not provided

Criteria Provided
Single Submitter

CA16616861

rs_987233144

2 SubmittersRCV000477721 RCV001851127

NM_001367823.1(ARHGEF18):c.2560C>T (p.Arg854Ter)

SNV
Germline

Chr19:7462259

Pathogenic

Retinitis pigmentosa 78
Condition: not provided

Criteria Provided
Single Submitter

CA16616862

rs_1064793000

2 SubmittersRCV000477673 RCV001865419

NM_001367823.1(ARHGEF18):c.3196G>T (p.Glu1066Ter)

SNV
Germline

Chr19:7467400

Pathogenic

Retinitis pigmentosa 78
Condition: not provided

Criteria Provided
Single Submitter

CA16616864

rs_767689418

2 SubmittersRCV000477725 RCV002525736

NM_001367823.1(ARHGEF18):c.2181+5G>A

SNV
Germline

Chr19:7456408

Pathogenic/Likely pathogenic

Retinitis pigmentosa 78

No Assertion Criteria Provided

CA16616865

rs_1064793002

2 SubmittersRCV000477671

NM_177965.4(CFAP418):c.244-2A>C

SNV
Germline

Chr8:95260534

Pathogenic/Likely pathogenic

Retinitis pigmentosa 64
CFAP418-related disorder

No Assertion Criteria Provided

CA16616877

rs_1060505042

2 SubmittersRCV000477709 RCV004730951

NM_177965.4(CFAP418):c.555G>A (p.Trp185Ter)

SNV
Germline

Chr8:95247686

Pathogenic/Likely pathogenic

Retinitis pigmentosa 64
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4815113

rs_748014296

3 SubmittersRCV000477743 RCV001379170

NM_000539.3(RHO):c.491C>T (p.Ala164Val)

SNV
Germline

Chr3:129531005

Pathogenic/Likely pathogenic

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa 4
Retinitis pigmentosa
Cone-rod dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16616904

rs_104893793

5 SubmittersRCV000477900 RCV001265187 RCV000787680 RCV000787681 RCV001229601 RCV003889904

NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val)

SNV
Germline

Chr1:197477688

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1312539

rs_111761880

6 SubmittersRCV000480538 RCV001242630 RCV001828510 RCV003449241 RCV003449242 RCV003449243 RCV005540090

NM_206933.4(USH2A):c.10741-1G>T

SNV
Germline

Chr1:215780042

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA16617054

rs_1064795279

2 SubmittersRCV000479860 RCV004568190

NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter)

SNV
Germline

Chr1:215888482

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1394674

rs_200712760

7 SubmittersRCV000485043 RCV000984317 RCV000984316 RCV004816688

NM_206933.4(USH2A):c.7595-2A>G

SNV
Germline

Chr1:215889056

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA16617057

rs_1064795047

4 SubmittersRCV000486199 RCV003464018 RCV003446078

NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter)

SNV
Germline

Chr1:216199931

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA16617060

rs_1064793745

4 SubmittersRCV000485380 RCV003449187 RCV000674309 RCV003449188

NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)

SNV
Germline

Chr1:216250989

Likely pathogenic

Condition: not provided
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Reviewed By Expert Panel

CA1396311

rs_137954284

11 SubmittersRCV000480360 RCV000504759 RCV001074179 RCV003463976 RCV005018793

NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)

SNV
Germline

Chr1:46192174

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Conflicting Classifications

CA833361

rs_766382416

4 SubmittersRCV000479982 RCV000984208 RCV000984207 RCV000984209 RCV001368114 RCV002525910 RCV005430538

NM_000329.3(RPE65):c.1244C>T (p.Ala415Val)

SNV
Germline

Chr1:68431376

Likely pathogenic

Condition: not provided
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA16617183

rs_1064795255

3 SubmittersRCV000483168 RCV003766693 RCV005398695

NM_000350.3(ABCA4):c.5836-3C>A

SNV
Germline

Chr1:94008300

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA16617201

rs_1064793013

3 SubmittersRCV000483369 RCV000515665

NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys)

SNV
Germline

Chr1:94030454

Pathogenic

Condition: not provided
Retinal dystrophy
Stargardt disease
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA957653

rs_762150575

5 SubmittersRCV000480271 RCV001073593 RCV000787780 RCV005239062

NM_201548.5(CERKL):c.1127A>C (p.Gln376Pro)

SNV
Germline

Chr2:181548551

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

CA2010566

rs_746220721

4 SubmittersRCV000483805 RCV003889907 RCV001828508

NM_015662.3(IFT172):c.1426G>A (p.Gly476Ser)

SNV
Germline

Chr2:27472348

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580647

rs_147303046

3 SubmittersRCV000480937 RCV000653125 RCV004551593

NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)

SNV
Germline

Chr4:127920826

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement
Inborn genetic diseases
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3077232

rs_559155109

13 SubmittersRCV000480079 RCV000505174 RCV000505013 RCV000504782 RCV000805545 RCV001542748 RCV002313243 RCV001805096 RCV005027540 RCV005418155

NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)

SNV
Germline

Chr4:15601291

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Inborn genetic diseases
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864468

rs_199695154

6 SubmittersRCV000479727 RCV001053315 RCV002496867 RCV002525868 RCV004541523

NM_000440.3(PDE6A):c.2038A>G (p.Met680Val)

SNV
Germline

Chr5:149883526

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3504419

rs_148598583

4 SubmittersRCV000485029 RCV001156327 RCV004955534

NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys)

SNV
Germline

Chr6:42721813

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA16618286

rs_1064793237

4 SubmittersRCV000479816 RCV001075073 RCV001250369

NM_000322.5(PRPH2):c.303C>G (p.Tyr101Ter)

SNV
Germline

Chr6:42722032

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA16618287

rs_61755776

3 SubmittersRCV000482305 RCV001250297

NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly)

SNV
Germline

Chr6:64081880

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3876904

rs_368458853

4 SubmittersRCV000484804 RCV001272974 RCV004619303

NM_001142800.2(EYS):c.2137+1G>A

SNV
Germline

Chr6:65057613

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
EYS-related disorder
Retinal dystrophy
EYS-related retinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA3877324

rs_199740930

20 SubmittersRCV000484533 RCV000763559 RCV000779518 RCV003392308 RCV004816694 RCV005355951

NM_001142800.2(EYS):c.1274G>A (p.Cys425Tyr)

SNV
Germline

Chr6:65384411

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16618300

rs_1064796021

3 SubmittersRCV001376364 RCV000486623

NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala)

SNV
Germline

Chr8:10608966

Conflicting classifications of pathogenicity

Condition: not provided
Occult macular dystrophy
Retinitis pigmentosa 88
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4623757

rs_200635063

3 SubmittersRCV000482552 RCV002496876 RCV003889908

NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)

SNV
Germline

Chr8:43192320

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Sanfilippo syndrome

Criteria Provided
Conflicting Classifications

CA16618645

rs_1064795522

5 SubmittersRCV000478090 RCV000626050 RCV001074815 RCV001865466 RCV003330719

NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)

SNV
Germline

Chr8:43199541

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Intellectual disability
Inborn genetic diseases
not specified
HGSNAT-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4737042

rs_192857413

8 SubmittersRCV000478941 RCV000802522 RCV000625332 RCV001252520 RCV002526563 RCV002271509 RCV004751559 RCV004816691

NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)

SNV
Germline

Chr10:69382555

Pathogenic/Likely pathogenic

Condition: not provided
Neurodevelopmental disorder with visual defects and brain anomalies
Retinitis pigmentosa 79
Inborn genetic diseases
Retinitis pigmentosa
Hemolytic anemia due to hexokinase deficiency
Autism spectrum disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16618972

rs_1064794848

17 SubmittersRCV000483739 RCV000850128 RCV001254702 RCV001266687 RCV001270352 RCV001770372 RCV003126749 RCV004816693

NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)

SNV
Germline

Chr16:28477620

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis
Retinal dystrophy
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA7980640

rs_139842473

17 SubmittersRCV000487188 RCV000504756 RCV000559381 RCV001075708 RCV001253588

NM_001297.5(CNGB1):c.2508C>A (p.Tyr836Ter)

SNV
Germline

Chr16:57904860

Pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA16620218

rs_1064794573

3 SubmittersRCV000483160 RCV001294190

NM_006915.3(RP2):c.8G>C (p.Cys3Ser)

SNV
Germline

ChrX:46837108

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10394159

rs_782344765

5 SubmittersRCV000479201 RCV002470866 RCV004816687

NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)

SNV
Germline

Chr10:69398758

Pathogenic/Likely pathogenic

Retinitis pigmentosa 79
Condition: not provided
Retinal dystrophy
See cases
HK1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5532875

rs_777849213

12 SubmittersRCV000487470 RCV001064496 RCV001075827 RCV004584389 RCV004740261

NM_020843.4(SCAPER):c.2023-2A>G

SNV
Germline

Chr15:76728739

Pathogenic

Retinitis pigmentosa
Intellectual developmental disorder and retinitis pigmentosa
IDDRP
Syndromic retinitis pigmentosa

No Assertion Criteria Provided

CA393634888

rs_1555558169

4 SubmittersRCV000578475 RCV000722053 RCV001003221

NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His)

SNV
Germline

Chr1:94031778

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA16621568

rs_1064797113

2 SubmittersRCV000488409 RCV001199614

NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser)

SNV
Germline

Chr1:94046962

Conflicting classifications of pathogenicity

Condition: not provided
ABCA4-related disorder
Isolated macular dystrophy
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958129

rs_368846708

6 SubmittersRCV000488184 RCV001099950 RCV001199608 RCV005418162 RCV005248064

NM_000350.3(ABCA4):c.764G>A (p.Arg255His)

SNV
Germline

Chr1:94098798

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy
Retinitis pigmentosa 19
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958752

rs_148387660

6 SubmittersRCV000487903 RCV001199628 RCV005252916 RCV003889909

NM_201253.3(CRB1):c.481G>A (p.Ala161Thr)

SNV
Germline

Chr1:197328832

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA16621582

rs_1064797126

3 SubmittersRCV000488223 RCV001072005 RCV001591128

NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)

SNV
Germline

Chr1:215878800

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16621590

rs_1064797134

8 SubmittersRCV000488256 RCV000667007 RCV003449252 RCV001834579 RCV004816701

NM_206933.4(USH2A):c.3461T>C (p.Leu1154Ser)

SNV
Germline

Chr1:216199977

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA16621593

rs_1064797137

2 SubmittersRCV000488016 RCV001199794

NM_014714.4(IFT140):c.472C>T (p.Arg158Trp)

SNV
Germline

Chr16:1592486

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7814699

rs_755315693

4 SubmittersRCV000487511 RCV001584198 RCV005018818 RCV001856885

NM_001297.5(CNGB1):c.2794+1G>A

SNV
Germline

Chr16:57903821

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45
Retinal dystrophy
Retinitis pigmentosa
CNGB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8082831

rs_770011113

9 SubmittersRCV000487966 RCV001725185 RCV001074635 RCV001199466 RCV004758021

NM_001201543.2(FAM161A):c.1212T>A (p.Cys404Ter)

SNV
Germline

Chr2:61839792

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 28

Criteria Provided
Multiple Submitters
No Conflicts

CA16621749

rs_4672457

4 SubmittersRCV000487590 RCV001199814 RCV003470592

NM_000283.4(PDE6B):c.409G>A (p.Gly137Arg)

SNV
Germline

Chr4:626035

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2793936

rs_781658083

3 SubmittersRCV000487749 RCV001724026

NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)

SNV
Germline

Chr4:654113

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA16621814

rs_1064797304

2 SubmittersRCV000488380 RCV001199718 RCV001293398

NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)

SNV
Germline

Chr4:15991259

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa 41
Cone-rod dystrophy
Cone-rod dystrophy 12
Retinitis pigmentosa 41
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866577

rs_761911901

10 SubmittersRCV000487979 RCV000765764 RCV001199723 RCV003236583 RCV003338612 RCV004816708

NM_004744.5(LRAT):c.487C>G (p.His163Asp)

SNV
Germline

Chr4:154744813

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 14

Criteria Provided
Conflicting Classifications

CA16621821

rs_1010347467

5 SubmittersRCV000487578 RCV001199703 RCV003155209

NM_001142800.2(EYS):c.8035T>G (p.Cys2679Gly)

SNV
Germline

Chr6:63762497

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA16621840

rs_1064797324

3 SubmittersRCV000487546 RCV001199691

NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)

SNV
Germline

Chr6:64439254

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 25
EYS-related disorder

Criteria Provided
Conflicting Classifications

CA3876985

rs_188093810

10 SubmittersRCV000488090 RCV001073586 RCV001161045 RCV003144285 RCV003932793

NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter)

SNV
Germline

Chr8:10608139

Conflicting classifications of pathogenicity

Condition: not provided
Occult macular dystrophy
Autosomal recessive retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 88
Occult macular dystrophy

Criteria Provided
Conflicting Classifications

CA4623490

rs_200846354

7 SubmittersRCV000487849 RCV000988031 RCV001257841 RCV004816711 RCV005398708

NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro)

SNV
Germline

ChrX:38321038

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA16621889

rs_1064797366

4 SubmittersRCV000487612 RCV001199550 RCV001075427

NM_005869.4(CWC27):c.495G>A (p.Glu165=)

SNV
Germline

Chr5:64785579

Pathogenic

Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA444474629

rs_1085307446

3 SubmittersRCV000488877 RCV002527018 RCV005407149

NM_005869.4(CWC27):c.943G>T (p.Glu315Ter)

SNV
Germline

Chr5:64885447

Pathogenic

Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

No Assertion Criteria Provided

CA359961278

rs_1085307447

1 SubmittersRCV000488874

NM_005869.4(CWC27):c.617C>A (p.Ser206Ter)

SNV
Germline

Chr5:64788968

Pathogenic

Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

No Assertion Criteria Provided

CA3282024

rs_781702398

1 SubmittersRCV000488878

NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)

SNV
Germline

Chr1:197427826

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344037829

rs_1085307972

4 SubmittersRCV000488946 RCV001834593 RCV003449262 RCV003449263 RCV001851320

NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)

SNV
Germline

Chr1:94021385

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341283189

rs_1085307968

5 SubmittersRCV000489654 RCV001353028 RCV005027567 RCV005252923

NM_003322.6(TULP1):c.1063G>A (p.Asp355Asn)

SNV
Germline

Chr6:35505790

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
TULP1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA363779723

rs_1085307806

5 SubmittersRCV000489746 RCV001249894 RCV004735570 RCV004767299

NM_152419.3(HGSNAT):c.1634C>A (p.Thr545Lys)

SNV
Germline

Chr8:43197860

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
not specified

Criteria Provided
Conflicting Classifications

CA4736988

rs_377050184

3 SubmittersRCV000489607 RCV001359580 RCV004701547

NM_020843.4(SCAPER):c.3656G>A (p.Ser1219Asn)

SNV
Germline

Chr15:76381427

Pathogenic/Likely pathogenic

Intellectual disability, moderate
Rod-cone dystrophy
Intellectual developmental disorder and retinitis pigmentosa
IDDRP

No Assertion Criteria Provided

CA393520110

rs_1305542291

2 SubmittersRCV000523592 RCV000722056

NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)

SNV
Germline

Chr1:197429614

Pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 8
Leber congenital amaurosis 1
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy
Retinitis pigmentosa 12
CRB1-related disorder
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344041407

rs_62645747

9 SubmittersRCV000515691 RCV001250609 RCV000986493 RCV001389640 RCV001836643 RCV003987563 RCV003449270 RCV004740266 RCV005010407

NM_206933.4(USH2A):c.11389+3A>T

SNV
Germline

Chr1:215758592

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1393757

rs_753886165

8 SubmittersRCV000515699 RCV001386131 RCV001074399 RCV001376314 RCV005018824

NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)

SNV
Germline

Chr1:68431282

Pathogenic

Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340742354

rs_1420672586

4 SubmittersRCV000515733 RCV001245608 RCV003766756

NM_000329.3(RPE65):c.1101A>G (p.Arg367=)

SNV
Germline

Chr1:68438214

Pathogenic

Leber congenital amaurosis
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA418279061

rs_1553152989

6 SubmittersRCV000515747 RCV004527377 RCV001865522 RCV002248718

NM_001034853.2(RPGR):c.1572+3A>T

SNV
Germline

ChrX:38290956

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA658658968

rs_1555962831

1 SubmittersRCV000515735

NM_006915.3(RP2):c.102G>A (p.Lys34=)

SNV
Germline

ChrX:46837202

Likely pathogenic

Leber congenital amaurosis
Condition: not provided
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

CA516252066

rs_1556313552

3 SubmittersRCV000515686 RCV001051097 RCV000990803

NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)

SNV
Germline

Chr21:44333188

Pathogenic/Likely pathogenic

Axial spondylometaphyseal dysplasia
Cone dystrophy
Retinitis pigmentosa
Retinal dystrophy
CFAP410-related disorder
Condition: not provided
Retinal dystrophy with or without macular staphyloma
Retinal dystrophy with or without macular staphyloma
Axial spondylometaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA10053758

rs_140451304

14 SubmittersRCV000492059 RCV000504995 RCV000504803 RCV001075775 RCV003409679 RCV001091473 RCV001376208 RCV005355988

NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)

SNV
Germline

Chr1:215650716

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome
Retinal degeneration
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Reviewed By Expert Panel

CA1393090

rs_539192853

12 SubmittersRCV000492984 RCV000787725 RCV003126756 RCV001073605 RCV001252667 RCV002226464 RCV005018826

NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter)

SNV
Germline

Chr1:215782098

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1393958

rs_749702843

5 SubmittersRCV003449387 RCV003464064 RCV000494028

NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)

SNV
Germline

Chr14:88872358

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 8
TTC8-related disorder

Criteria Provided
Conflicting Classifications

CA7302697

rs_142938748

8 SubmittersRCV000502817 RCV001117716 RCV001085151 RCV000514165 RCV001117717 RCV003915396

NM_006343.3(MERTK):c.584-1G>T

SNV
Unknown

Chr2:111947393

Pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348228946

rs_1553449458

1 SubmittersRCV000502117

NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)

SNV
Germline

Chr1:197421011

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA35893184

rs_369775002

4 SubmittersRCV000505025 RCV001074835 RCV001390794 RCV003476197

NM_201253.3(CRB1):c.1673T>C (p.Ile558Thr)

SNV
Unknown

Chr1:197421501

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA1311954

rs_776788104

1 SubmittersRCV000504659

NM_201253.3(CRB1):c.2017A>G (p.Lys673Glu)

SNV
Unknown

Chr1:197421845

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344033430

rs_1553260517

1 SubmittersRCV000504745

NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)

SNV
Germline

Chr1:197427454

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1312059

rs_145282040

9 SubmittersRCV001053730 RCV000504865 RCV001783005 RCV001275649 RCV005010445 RCV003449433 RCV003449434 RCV003449435

NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)

SNV
Germline

Chr1:197427964

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA35901203

rs_910489135

6 SubmittersRCV001067848 RCV000504944 RCV001376401 RCV003476198 RCV005010446 RCV001834627

NM_201253.3(CRB1):c.2842+5G>A

SNV
Germline

Chr1:197429619

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1312221

rs_773914330

9 SubmittersRCV000504958 RCV001310547 RCV001857211 RCV005010447 RCV005418175 RCV001250645 RCV003446102

NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)

SNV
Germline

Chr1:197435539

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1312374

rs_757740068

7 SubmittersRCV001064730 RCV000504976 RCV001275659 RCV003449440 RCV003228798 RCV003449439

NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)

SNV
Germline

Chr1:215648684

Conflicting classifications of pathogenicity

Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393021

rs_770553471

8 SubmittersRCV000504707 RCV000674502 RCV000657876 RCV003464079

NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)

SNV
Germline

Chr1:215674335

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA37412317

rs_1003869920

12 SubmittersRCV000504721 RCV000598833 RCV000670712 RCV001829437 RCV001074297

NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu)

SNV
Germline

Chr1:215674580

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1393316

rs_762388072

4 SubmittersRCV000505059 RCV001379273 RCV003470635

NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)

SNV
Germline

Chr1:215674637

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393320

rs_201238640

9 SubmittersRCV000504678 RCV000733677 RCV001358731 RCV004817730 RCV003470634

NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)

SNV
Germline

Chr1:215674957

Pathogenic

Usher syndrome
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344848080

rs_762159022

8 SubmittersRCV000504779 RCV001380977 RCV001542725 RCV004817729 RCV005018864

NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)

SNV
Germline

Chr1:215675092

Pathogenic

Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344848937

rs_1362058696

6 SubmittersRCV000505020 RCV000670212 RCV003449422 RCV001865635 RCV003449423

NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter)

SNV
Germline

Chr1:215741386

Pathogenic

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344833144

rs_1553257498

3 SubmittersRCV000504698 RCV001857206 RCV005606667

NM_206933.4(USH2A):c.11507C>T (p.Pro3836Leu)

SNV
Unknown

Chr1:215743218

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344834732

rs_1553257685

1 SubmittersRCV000504870

NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)

SNV
Germline

Chr1:215790265

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344844828

rs_1288381992

4 SubmittersRCV000505042 RCV000670590 RCV001062508 RCV003449431 RCV003449432

NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)

SNV
Germline

Chr1:215798907

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344848146

rs_1285853856

8 SubmittersRCV000504889 RCV001376751 RCV001834625 RCV001376218 RCV004701572

NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)

SNV
Germline

Chr1:215798983

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394189

rs_749228276

10 SubmittersRCV001075611 RCV000504661 RCV000593818 RCV001810454 RCV001376250 RCV005018865

NM_206933.4(USH2A):c.9785G>T (p.Gly3262Val)

SNV
Unknown

Chr1:215799080

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344849833

rs_1553263639

1 SubmittersRCV000504675

NM_206933.4(USH2A):c.9571-2A>G

SNV
Germline

Chr1:215813906

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394268

rs_751111524

10 SubmittersRCV000505005 RCV001057476 RCV001075684 RCV002231177 RCV000670550 RCV001829438 RCV003446101

NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala)

SNV
Germline

Chr1:215879038

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 39
not specified
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344832484

rs_1188281491

5 SubmittersRCV000504749 RCV001376219 RCV004701571 RCV004796212 RCV002527328

NM_206933.4(USH2A):c.8223+1G>C

SNV
Unknown

Chr1:215888425

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344838304

rs_1553273280

1 SubmittersRCV000505079

NM_206933.4(USH2A):c.7358T>A (p.Val2453Asp)

SNV
Unknown

Chr1:215900848

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344850058

rs_1553274531

1 SubmittersRCV000504635

NM_206933.4(USH2A):c.6050-1G>A

SNV
Germline

Chr1:216048648

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37460459

rs_1035024403

5 SubmittersRCV000505173 RCV001062758 RCV000674025 RCV003446099 RCV003446100

NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)

SNV
Germline

Chr1:216073270

Pathogenic/Likely pathogenic

Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344854897

rs_1553298240

5 SubmittersRCV000504716 RCV000669452 RCV001389284

NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)

SNV
Germline

Chr1:216196582

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
not specified
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395785

rs_746551311

15 SubmittersRCV000504899 RCV000666545 RCV001073573 RCV000627213 RCV001002566 RCV003389475 RCV001276258 RCV003449425

NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)

SNV
Germline

Chr1:216198369

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome

Criteria Provided
Conflicting Classifications

CA1395850

rs_754634823

10 SubmittersRCV000504740 RCV000666331 RCV001239324 RCV001578842 RCV001004872 RCV001073650 RCV005418174

NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)

SNV
Germline

Chr1:216325393

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
USH2A-related disorder
Usher syndrome
Rare genetic deafness
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1396612

rs_780308389

12 SubmittersRCV000665487 RCV001075415 RCV001834622 RCV001836644 RCV000504656 RCV000824796 RCV000804683

NM_206933.4(USH2A):c.926C>T (p.Pro309Leu)

SNV
Germline

Chr1:216325522

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA344912616

rs_1359713084

4 SubmittersRCV000504774 RCV001300494 RCV001834624 RCV003464081

NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)

SNV
Germline

Chr1:216422237

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1396855

rs_772808534

10 SubmittersRCV000504668 RCV000673031 RCV001273815 RCV001039961 RCV001376313 RCV003479142

NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)

SNV
Germline

Chr1:68448644

Pathogenic

Retinal dystrophy
Leber congenital amaurosis
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902628

rs_199683808

10 SubmittersRCV000504723 RCV001834621 RCV001250673 RCV001377674 RCV001724032 RCV002496962 RCV004527379

NM_000350.3(ABCA4):c.5196+1137G>A

SNV
Germline

Chr1:94018445

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Macular dystrophy
Stargardt disease
Retinitis pigmentosa 19
Condition: not provided
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA26843511

rs_778234759

13 SubmittersRCV000504847 RCV000504651 RCV000787507 RCV000787508 RCV001542560 RCV001388591 RCV003324531

NM_000350.3(ABCA4):c.5018+5G>A

SNV
Germline

Chr1:94021235

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA645509082

rs_1553188588

4 SubmittersRCV000504637 RCV001075246 RCV003558423

NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)

SNV
Germline

Chr1:94047024

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA958148

rs_149071415

6 SubmittersRCV000504891 RCV001047033 RCV005034047 RCV005356025

NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter)

SNV
Unknown

Chr1:94063315

Pathogenic

Retinitis pigmentosa
Retinal dystrophy

No Assertion Criteria Provided

CA341280671

rs_1553192726

1 SubmittersRCV000504738 RCV000504926

NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)

SNV
Germline

Chr2:112019497

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 38
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1831727

rs_541717028

7 SubmittersRCV000504691 RCV001074082 RCV002289688 RCV001049512

NM_006343.3(MERTK):c.2179C>G (p.Arg727Gly)

SNV
Unknown

Chr2:112019512

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA1831729

rs_746238212

1 SubmittersRCV000504845

NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)

SNV
Germline

Chr2:181604002

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 26
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2010866

rs_569826109

9 SubmittersRCV000504821 RCV001071725 RCV001277034 RCV003226314

NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)

SNV
Germline

Chr2:29071260

Pathogenic/Likely pathogenic

Retinitis pigmentosa
See cases
Retinitis pigmentosa 54
Condition: not provided
Retinal dystrophy
PCARE-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1592053

rs_367658438

13 SubmittersRCV000504713 RCV001197047 RCV001352960 RCV000627266 RCV001074819 RCV003935321

NM_016247.4(IMPG2):c.2426G>A (p.Trp809Ter)

SNV
Unknown

Chr3:101243905

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA353857294

rs_1553681348

1 SubmittersRCV000505127

NM_016247.4(IMPG2):c.118G>T (p.Glu40Ter)

SNV
Unknown

Chr3:101319800

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA353858715

rs_1553687058

1 SubmittersRCV000505068

NM_000539.3(RHO):c.83A>G (p.Gln28Arg)

SNV
Germline

Chr3:129528816

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA354495583

rs_1553780837

3 SubmittersRCV000505117 RCV001296378 RCV004817727

NM_000539.3(RHO):c.509C>G (p.Pro170Arg)

SNV
Germline

Chr3:129531023

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354498718

rs_1553781176

5 SubmittersRCV000987330 RCV000505129 RCV001381860

NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr)

SNV
Germline

Chr3:97784981

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
ARL6-related disorder
Bardet-Biedl syndrome 1
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA2505920

rs_771054395

4 SubmittersRCV000504758 RCV001376735 RCV004745430 RCV005027583

NM_006017.3(PROM1):c.1710C>A (p.Tyr570Ter)

SNV
Germline

Chr4:15994044

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA2866667

rs_201644238

2 SubmittersRCV000504677 RCV001857222

NM_006017.3(PROM1):c.1002+5G>A

SNV
Germline

Chr4:16018318

Conflicting classifications of pathogenicity

Retinal dystrophy
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA550187763

rs_1196489060

3 SubmittersRCV000505134 RCV001145013 RCV001145014 RCV001146960 RCV001145015 RCV005418178

NM_006017.3(PROM1):c.436C>T (p.Arg146Ter)

SNV
Germline

Chr4:16033377

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 41
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2867073

rs_780697796

4 SubmittersRCV000504986 RCV000987427 RCV001865639

NM_207352.4(CYP4V2):c.197T>G (p.Met66Arg)

SNV
Germline

Chr4:186192020

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA3162436

rs_745413794

2 SubmittersRCV000504812 RCV001865638

NM_001379270.1(CNGA1):c.1666C>T (p.Arg556Ter)

SNV
Germline

Chr4:47936816

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA2911032

rs_567961453

2 SubmittersRCV000504735 RCV001857216

NM_000283.4(PDE6B):c.1A>G (p.Met1Val)

SNV
Unknown

Chr4:625627

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA2793817

rs_781003757

1 SubmittersRCV000504868

NM_000283.4(PDE6B):c.1107+3A>G

SNV
Germline

Chr4:656295

Pathogenic/Likely pathogenic

Retinitis pigmentosa
PDE6B-related disorder
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA2794340

rs_370898371

11 SubmittersRCV000504844 RCV004740287 RCV000658986 RCV001073294 RCV001197048

NM_000283.4(PDE6B):c.1547T>C (p.Leu516Pro)

SNV
Unknown

Chr4:660546

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA355916145

rs_1553812554

1 SubmittersRCV000504664

NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)

SNV
Germline

Chr5:149884549

Pathogenic

Retinitis pigmentosa
Inborn genetic diseases
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA3504453

rs_753942596

11 SubmittersRCV000504732 RCV000622936 RCV000627204 RCV004817725 RCV005252934

NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp)

SNV
Germline

Chr5:149895281

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA3504607

rs_144484128

5 SubmittersRCV000505062 RCV001075345 RCV001229513 RCV005034046

NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)

SNV
Germline

Chr5:149931117

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA3504948

rs_146591309

10 SubmittersRCV000504959 RCV000595544 RCV001073963 RCV001376482

NM_001134831.2(AHI1):c.2429C>T (p.Pro810Leu)

SNV
Unknown

Chr6:135429945

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA365742781

rs_1554338016

1 SubmittersRCV000504989

NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg)

SNV
Germline

Chr6:42704529

Pathogenic

Retinal dystrophy
Retinitis pigmentosa
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364135451

rs_1554269053

4 SubmittersRCV000504883 RCV001003140 RCV002524400

NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly)

SNV
Germline

Chr6:63721663

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA364385090

rs_1554163993

5 SubmittersRCV000505047 RCV000670181 RCV001362404 RCV002282186

NM_001142800.2(EYS):c.6937C>T (p.Gln2313Ter)

SNV
Unknown

Chr6:63984501

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA364388695

rs_1554194404

1 SubmittersRCV000505036

NM_001142800.2(EYS):c.6502G>T (p.Glu2168Ter)

SNV
Unknown

Chr6:64081925

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA364390943

rs_1554204963

1 SubmittersRCV000504650

NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro)

SNV
Germline

Chr6:64081954

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3876911

rs_777735735

5 SubmittersRCV000505095 RCV001834630 RCV001219169

NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr)

SNV
Germline

Chr6:64230693

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3876928

rs_770111708

3 SubmittersRCV000504836 RCV001580505 RCV002524411

NM_001142800.2(EYS):c.5928-2A>G

SNV
Germline

Chr6:64388842

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA140315879

rs_181169439

15 SubmittersRCV000504892 RCV001055069 RCV001075860 RCV000987723

NM_001142800.2(EYS):c.5408C>G (p.Ser1803Ter)

SNV
Unknown

Chr6:64590459

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA364781174

rs_1554183432

1 SubmittersRCV000504992

NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)

SNV
Germline

Chr6:64591822

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA140340976

rs_930421180

11 SubmittersRCV000504982 RCV001040519 RCV001731733 RCV004817735

NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter)

SNV
Germline

Chr6:64593219

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364784754

rs_1291867456

5 SubmittersRCV000504787 RCV000809887 RCV001783006

NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter)

SNV
Unknown

Chr6:64886713

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364788629

rs_1554214453

2 SubmittersRCV000505158 RCV002506233

NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)

SNV
Germline

Chr6:64912505

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA140380268

rs_760798455

8 SubmittersRCV001073598 RCV000504898 RCV001035568 RCV001376424

NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)

SNV
Germline

Chr6:65405253

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy
not specified
EYS-related disorder

Criteria Provided
Conflicting Classifications

CA3877908

rs_112822256

15 SubmittersRCV000504943 RCV001277019 RCV000513566 RCV000625446 RCV001074080 RCV001700135 RCV003915401

NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala)

SNV
Germline

Chr7:23125152

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 42

Criteria Provided
Conflicting Classifications

CA366975744

rs_1554286384

4 SubmittersRCV000505171 RCV001054300 RCV004596231

NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp)

SNV
Germline

Chr7:23125163

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 42

Criteria Provided
Conflicting Classifications

CA16609620

rs_1182983579

6 SubmittersRCV000504764 RCV001043815 RCV001074657 RCV001376512

NM_006269.2(RP1):c.2056C>T (p.Gln686Ter)

SNV
Germline

Chr8:54625938

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA370992631

rs_1554519533

2 SubmittersRCV000504878 RCV003558419

NM_006269.2(RP1):c.2219C>G (p.Ser740Ter)

SNV
Germline

Chr8:54626101

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA370993031

rs_1554519555

4 SubmittersRCV000505089 RCV000760556 RCV003889913

NM_006269.2(RP1):c.2656C>T (p.Gln886Ter)

SNV
Germline

Chr8:54626538

Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Single Submitter

CA370994333

rs_1554519651

2 SubmittersRCV000504901 RCV001075558

NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter)

SNV
Germline

Chr10:84211689

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA377377258

rs_1477733493

2 SubmittersRCV000504623 RCV001857214

NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)

SNV
Germline

Chr12:76347395

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA6694316

rs_756632517

4 SubmittersRCV000504949 RCV001324945 RCV002490846

NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp)

SNV
Germline

Chr15:71811825

Conflicting classifications of pathogenicity

Abnormality of the eye
Retinal dystrophy
Condition: not provided
Enhanced S-cone syndrome
Retinitis pigmentosa 37
Enhanced S-cone syndrome
Retinitis pigmentosa 37

Criteria Provided
Conflicting Classifications

CA7640280

rs_772881093

6 SubmittersRCV000504667 RCV001074908 RCV001857226 RCV003464082 RCV004787814 RCV005004199

NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln)

SNV
Germline

Chr15:71811831

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 37
Enhanced S-cone syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7640282

rs_766096417

9 SubmittersRCV000504861 RCV001003093 RCV001039719 RCV002226466 RCV003464083

NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)

SNV
Germline

Chr15:71813408

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 37
Goldmann-Favre syndrome
Enhanced S-cone syndrome
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA7640401

rs_377257254

8 SubmittersRCV000504973 RCV000809974 RCV001376214 RCV001449815 RCV003464084 RCV001724033

NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr)

SNV
Germline

Chr16:1587209

Pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA7814480

rs_773372123

3 SubmittersRCV001002703 RCV000504730

NM_012106.4(ARL2BP):c.207+1G>A

SNV
Germline

Chr16:57248644

Pathogenic

Retinal dystrophy
Condition: not provided
ARL2BP-related disorder
Retinitis pigmentosa with or without situs inversus

Criteria Provided
Multiple Submitters
No Conflicts

CA8074878

rs_199830550

5 SubmittersRCV000504888 RCV001857201 RCV003392337 RCV004698499

NM_001297.5(CNGB1):c.2980G>T (p.Glu994Ter)

SNV
Unknown

Chr16:57897911

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA396067769

rs_1555488069

1 SubmittersRCV000505139

NM_001297.5(CNGB1):c.2676C>A (p.Tyr892Ter)

SNV
Unknown

Chr16:57903940

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA396058022

rs_1555488573

1 SubmittersRCV000504823

NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)

SNV
Germline

Chr16:57915268

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8083082

rs_760373259

5 SubmittersRCV000504924 RCV002524402 RCV003989545

NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter)

SNV
Germline

Chr16:57916161

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA396063476

rs_1352458826

5 SubmittersRCV000504700 RCV001384477 RCV001073841 RCV005010442

NM_001297.5(CNGB1):c.761+2T>A

SNV
Unknown

Chr16:57959886

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA396077361

rs_1555493707

1 SubmittersRCV000504793

NM_001297.5(CNGB1):c.664C>T (p.Gln222Ter)

SNV
Unknown

Chr16:57959985

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA396077701

rs_750620302

1 SubmittersRCV000504634

NM_001297.5(CNGB1):c.413-1G>A

SNV
Germline

Chr16:57962611

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 45
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA8083831

rs_189234741

9 SubmittersRCV000504965 RCV000678544 RCV001056559 RCV001074746

NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly)

SNV
Germline

Chr17:1650882

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Autosomal dominant retinitis pigmentosa
Retinitis pigmentosa 13
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA397562024

rs_752997229

10 SubmittersRCV000504770 RCV001257799 RCV001542603 RCV001231748 RCV003889914

NM_015629.4(PRPF31):c.1A>T (p.Met1Leu)

SNV
Unknown

Chr19:54118279

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA407788919

rs_1555791188

1 SubmittersRCV000505066

NM_001034853.2(RPGR):c.1429G>T (p.Glu477Ter)

SNV
Unknown

ChrX:38291470

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA412737909

rs_1555962965

1 SubmittersRCV000504699

NM_001034853.2(RPGR):c.1237A>T (p.Arg413Ter)

SNV
Unknown

ChrX:38298964

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA412739722

rs_771039023

1 SubmittersRCV000505049

NM_001034853.2(RPGR):c.779-3C>A

SNV
Unknown

ChrX:38304793

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA645509407

rs_1555965712

1 SubmittersRCV000504988

NM_001034853.2(RPGR):c.126T>G (p.Cys42Trp)

SNV
Unknown

ChrX:38323427

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA412745785

rs_1555968526

1 SubmittersRCV000504753

NM_006915.3(RP2):c.338C>A (p.Ala113Asp)

SNV
Unknown

ChrX:46853711

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA413039319

rs_1556318627

1 SubmittersRCV000505166

NM_006915.3(RP2):c.352C>T (p.Arg118Cys)

SNV
Germline

ChrX:46853725

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
X-linked retinitis pigmentosa
Retinitis pigmentosa 2

Criteria Provided
Multiple Submitters
No Conflicts

CA413039367

rs_1556318633

9 SubmittersRCV000504762 RCV001003184 RCV001091011 RCV001257800 RCV002283485

NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)

SNV
Germline

Chr1:215674550

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Condition: not provided
Childhood onset hearing loss
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393303

rs_148033154

8 SubmittersRCV000507584 RCV001074764 RCV001425706 RCV001328024 RCV001374885

NM_201253.3(CRB1):c.1914G>T (p.Ser638=)

SNV
Germline

Chr1:197421742

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA422808630

rs_780682072

3 SubmittersRCV000512803 RCV001482580 RCV005614420

NM_201253.3(CRB1):c.3062T>C (p.Leu1021Pro)

SNV
Germline

Chr1:197434925

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA344045114

rs_1553262957

2 SubmittersRCV000513509 RCV001199675

NM_206933.4(USH2A):c.10495C>A (p.Pro3499Thr)

SNV
Germline

Chr1:215782828

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA344837740

rs_1553261461

2 SubmittersRCV000513076 RCV001199567

NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)

SNV
Germline

Chr1:216084747

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Hearing impairment
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344858879

rs_1461319754

8 SubmittersRCV001073947 RCV000513450 RCV000672338 RCV001375184 RCV003449460 RCV003449461

NM_024649.5(BBS1):c.952G>A (p.Gly318Arg)

SNV
Germline

Chr11:66523724

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 1
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA381461967

rs_1555048487

3 SubmittersRCV000513191 RCV000674877 RCV001199648

NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly)

SNV
Germline

Chr16:28486348

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA395345175

rs_1555468695

3 SubmittersRCV000513241 RCV001199670 RCV001857319

NM_000541.5(SAG):c.136+2T>G

SNV
Germline

Chr2:233316137

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA351043938

rs_1233480483

2 SubmittersRCV000512775 RCV001199777

NM_000541.5(SAG):c.806+4A>G

SNV
Germline

Chr2:233331716

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2174534

rs_749633616

3 SubmittersRCV000513254 RCV001199778

NM_000440.3(PDE6A):c.2083C>T (p.Gln695Ter)

SNV
Germline

Chr5:149883481

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA361692457

rs_1161389116

2 SubmittersRCV000512677 RCV001199495

NM_000440.3(PDE6A):c.1065+2T>A

SNV
Germline

Chr5:149907310

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA361698740

rs_1554090012

3 SubmittersRCV001199500 RCV000513022

NM_003322.6(TULP1):c.1268T>C (p.Val423Ala)

SNV
Germline

Chr6:35503614

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA363779143

rs_1554125521

2 SubmittersRCV000512978 RCV001199561

NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)

SNV
Germline

Chr6:63720639

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA3876667

rs_772888249

10 SubmittersRCV000513040 RCV001376277 RCV001162434 RCV001271835 RCV002248747

NM_001142800.2(EYS):c.7796A>G (p.His2599Arg)

SNV
Germline

Chr6:63778108

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3876776

rs_74636274

8 SubmittersRCV001285867 RCV000513506 RCV001159547

NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser)

SNV
Germline

Chr7:128403731

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leber congenital amaurosis 11
Retinitis pigmentosa 10
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4471191

rs_367549284

5 SubmittersRCV000513057 RCV001002241 RCV005398729 RCV003352900

NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter)

SNV
Germline

ChrX:38286352

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA412730130

rs_1555961624

2 SubmittersRCV000512810 RCV001199546

NM_000717.5(CA4):c.*59G>A

SNV
Germline

Chr17:60159483

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 17
CA4-related disorder

Criteria Provided
Conflicting Classifications

CA292207865

rs_530720914

4 SubmittersRCV000514784 RCV001002128 RCV003935357

NM_014285.7(EXOSC2):c.89G>T (p.Gly30Val)

SNV
Germline

Chr9:130693880

Conflicting classifications of pathogenicity

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5284733

rs_537467155

6 SubmittersRCV000515461 RCV002527440

NM_014285.7(EXOSC2):c.593G>A (p.Gly198Asp)

SNV
Germline

Chr9:130702231

Likely pathogenic

Condition: not provided
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Criteria Provided
Single Submitter

CA375247996

rs_756204866

2 SubmittersRCV004808743 RCV000515462

NM_014714.4(IFT140):c.4196T>C (p.Leu1399Pro)

SNV
Germline

Chr16:1511137

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

CA7812832

rs_559371453

2 SubmittersRCV005010467 RCV000515594

NM_014714.4(IFT140):c.985T>C (p.Cys329Arg)

SNV
Germline

Chr16:1587222

Pathogenic

Retinitis pigmentosa 80

No Assertion Criteria Provided

CA394216724

rs_1441549097

1 SubmittersRCV000515582

NM_014714.4(IFT140):c.1451C>T (p.Thr484Met)

SNV
Germline

Chr16:1580832

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Condition: not provided
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

CA7814278

rs_758052634

6 SubmittersRCV001073305 RCV002282196 RCV001857877 RCV002490876 RCV003326447 RCV000515606

NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter)

SNV
Germline

Chr16:1558056

Pathogenic

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

CA394200793

rs_1555486629

3 SubmittersRCV000515580 RCV005010468

NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)

SNV
Germline

Chr10:71791167

Pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Nonsyndromic genetic hearing loss
Pituitary adenoma 5, multiple types
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Syndromic retinitis pigmentosa
Usher syndrome type 1D

Reviewed By Expert Panel

CA5545996

rs_750880909

8 SubmittersRCV000515743 RCV002251483 RCV003239292 RCV003476213 RCV005044763 RCV005418185 RCV004787819

NM_205861.3(DHDDS):c.110G>A (p.Arg37His)

SNV
Germline

Chr1:26438214

Pathogenic/Likely pathogenic

Condition: not provided
Developmental delay and seizures with or without movement abnormalities
Retinitis pigmentosa 59

Criteria Provided
Multiple Submitters
No Conflicts

CA339138678

rs_1553121073

8 SubmittersRCV000519248 RCV000578122 RCV001858011

NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys)

SNV
Germline

Chr1:94041250

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA957929

rs_553776104

3 SubmittersRCV000523804 RCV005407681

NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)

SNV
Germline

Chr2:27446349

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1579519

rs_141098495

6 SubmittersRCV000520966 RCV001239376 RCV002476063 RCV004553147 RCV003483653

NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys)

SNV
Germline

Chr2:27447610

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579552

rs_746340772

5 SubmittersRCV000521349 RCV001821461 RCV001302324 RCV005027612 RCV004553146

NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)

SNV
Germline

Chr2:27457879

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1580090

rs_61747068

6 SubmittersRCV000523121 RCV001089402 RCV004553148 RCV002467857

NM_001031710.3(KLHL7):c.793+5G>C

SNV
Germline

Chr7:23144030

Conflicting classifications of pathogenicity

not specified
PERCHING syndrome
Condition: not provided
Retinitis pigmentosa 42

Criteria Provided
Conflicting Classifications

CA4186478

rs_375718274

6 SubmittersRCV000523837 RCV002274055 RCV001057631 RCV002248756

NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile)

SNV
Germline

Chr8:43158599

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4736463

rs_374287774

4 SubmittersRCV000522887 RCV001829521 RCV002525229 RCV003889920

NM_001034853.2(RPGR):c.617C>T (p.Thr206Ile)

SNV
Germline

ChrX:38317318

Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia
RPGR-related retinopathy
Retinitis pigmentosa 3

Reviewed By Expert Panel

CA412744378

rs_1555967757

4 SubmittersRCV000520033 RCV005091207 RCV005415434 RCV005252942

NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)

SNV
Germline

Chr1:68444607

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747862

rs_1191496583

4 SubmittersRCV000542372 RCV000754974 RCV003470756 RCV003767007

NM_000329.3(RPE65):c.215T>C (p.Phe72Ser)

SNV
Germline

Chr1:68446740

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

CA340748948

rs_1553153597

2 SubmittersRCV000553292 RCV002287424

NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala)

SNV
Germline

Chr2:27459395

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Inborn genetic diseases
Condition: not provided
Retinitis pigmentosa 71
IFT172-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA1580198

rs_142409945

8 SubmittersRCV000542399 RCV000624406 RCV001573188 RCV001336304 RCV004553245 RCV005625682

NM_025114.4(CEP290):c.180+1G>A

SNV
Germline

Chr12:88140955

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712897

rs_758593134

7 SubmittersRCV001091342 RCV001199655 RCV000787558 RCV000542843 RCV002289749 RCV002497107

NM_001031710.3(KLHL7):c.618+1G>A

SNV
Germline

Chr7:23140945

Likely pathogenic

Ulnar deviation of the wrist
Distal arthrogryposis
PERCHING syndrome
Retinitis pigmentosa 42

Criteria Provided
Single Submitter

CA366976530

rs_1554289078

3 SubmittersRCV000576878 RCV000824875 RCV000991229 RCV004767412

NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln)

SNV
Germline

Chr1:26457880

Pathogenic

Developmental delay and seizures with or without movement abnormalities
Condition: not provided
Retinitis pigmentosa 59

Criteria Provided
Multiple Submitters
No Conflicts

CA339144815

rs_1553122926

10 SubmittersRCV000578123 RCV001172209 RCV001853833

NM_205861.3(DHDDS):c.441-24A>G

SNV
Germline

Chr1:26447535

Likely pathogenic

Congenital disorder of glycosylation, type Ibb
Retinitis pigmentosa 59

Criteria Provided
Multiple Submitters
No Conflicts

CA705345

rs_764831063

3 SubmittersRCV000578121 RCV001860002

NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter)

SNV
Germline

Chr1:212895006

Conflicting classifications of pathogenicity

Condition: not provided
Posterior column ataxia-retinitis pigmentosa syndrome

Criteria Provided
Conflicting Classifications

CA1386181

rs_538343832

3 SubmittersRCV000578557 RCV000986511

NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)

SNV
Germline

Chr1:216086749

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395583

rs_754768875

11 SubmittersRCV000578898 RCV000670513 RCV000787731 RCV000787898 RCV003889925 RCV003465286

NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter)

SNV
Germline

Chr1:94108700

Pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA958864

rs_765429911

6 SubmittersRCV000578767 RCV001075053 RCV001376340 RCV005027679

NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter)

SNV
Germline

Chr14:88437553

Pathogenic

Condition: not provided
Leber congenital amaurosis 3
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA264544769

rs_374268850

4 SubmittersRCV000578631 RCV000678631 RCV002466542

NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter)

SNV
Germline

Chr16:1519982

Pathogenic/Likely pathogenic

Condition: not provided
Saldino-Mainzer syndrome
Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA276675316

rs_1002670900

4 SubmittersRCV000578612 RCV001230423 RCV001075043 RCV002506390

NM_001297.5(CNGB1):c.315G>A (p.Trp105Ter)

SNV
Germline

Chr16:57963040

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA396079763

rs_1420628245

4 SubmittersRCV000578720 RCV001199468 RCV005010555

NM_001102564.3(IFT43):c.100G>A (p.Glu34Lys)

SNV
Germline

Chr14:75988930

Conflicting classifications of pathogenicity

Retinitis pigmentosa 81
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7280641

rs_140366557

3 SubmittersRCV000579001 RCV001215266

NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)

SNV
Germline

Chr1:215675463

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
not specified
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA344850876

rs_1172628170

6 SubmittersRCV000585084 RCV001003256 RCV001269243 RCV001835857

NM_024649.5(BBS1):c.41C>G (p.Ala14Gly)

SNV
Germline

Chr11:66510700

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA381453346

rs_774110999

2 SubmittersRCV000585181 RCV001199647

NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp)

SNV
Germline

Chr16:57904765

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA8082916

rs_770961534

6 SubmittersRCV000585175 RCV001119757

NM_001297.5(CNGB1):c.838-4G>T

SNV
Germline

Chr16:57957381

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 45
Retinitis pigmentosa
CNGB1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8083661

rs_375539469

7 SubmittersRCV000584837 RCV000625379 RCV001118433 RCV003945371 RCV001706680

NM_015629.4(PRPF31):c.420G>C (p.Lys140Asn)

SNV
Germline

Chr19:54122594

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA407750150

rs_1555792445

2 SubmittersRCV000585399 RCV001199737

NM_016247.4(IMPG2):c.666+5G>A

SNV
Germline

Chr3:101275658

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2519415

rs_775105637

3 SubmittersRCV000585474 RCV001199809

NM_000539.3(RHO):c.392T>C (p.Leu131Pro)

SNV
Germline

Chr3:129530906

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA354497998

rs_1553781140

4 SubmittersRCV000585361 RCV004817780 RCV001265185

NM_001134831.2(AHI1):c.2988+6T>C

SNV
Germline

Chr6:135404945

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012199

rs_751303913

3 SubmittersRCV000585422 RCV001199637 RCV005091526

NM_178857.6(RP1L1):c.6118G>T (p.Glu2040Ter)

SNV
Germline

Chr8:10607980

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 88
Occult macular dystrophy

Criteria Provided
Conflicting Classifications

CA4623444

rs_201774530

3 SubmittersRCV000585466 RCV004817784 RCV005357771

NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter)

SNV
Germline

ChrX:38286394

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412730244

rs_1555961677

5 SubmittersRCV000584983 RCV001199544 RCV002530868

NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter)

SNV
Germline

ChrX:38286583

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA412730692

rs_1555961787

2 SubmittersRCV000585628 RCV001199539

NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys)

SNV
Germline

Chr1:215877758

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344828778

rs_1369414978

5 SubmittersRCV000586218 RCV001853963 RCV001073311

NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)

SNV
Germline

Chr16:56484820

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Inborn genetic diseases
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Retinal dystrophy
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
BBS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8065521

rs_567573386

11 SubmittersRCV000590291 RCV000622316 RCV000667111 RCV001376258 RCV004817790 RCV005019012 RCV004530646

NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)

SNV
Germline

Chr1:94037350

Conflicting classifications of pathogenicity

Condition: not provided
Age related macular degeneration 2
ABCA4-related disorder
Cone-rod dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
not specified
Stargardt disease
ABCA4-related retinopathy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957869

rs_146786552

15 SubmittersRCV000597651 RCV001195780 RCV001101855 RCV002267738 RCV002289889 RCV002497243 RCV003235303 RCV004594081 RCV005367445 RCV004817792

NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)

SNV
Germline

Chr1:216289375

Pathogenic

Usher syndrome
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Ear malformation
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396371

rs_534534437

17 SubmittersRCV000592080 RCV000599059 RCV001074303 RCV001271237 RCV001376324 RCV001814193 RCV002506407

NM_002900.3(RBP3):c.126G>A (p.Pro42=)

SNV
Germline

Chr10:47348610

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487858

rs_146175391

3 SubmittersRCV001106854 RCV000594582

NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter)

SNV
Germline

Chr2:61840001

Pathogenic

Condition: not provided
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 28

Criteria Provided
Multiple Submitters
No Conflicts

CA1679235

rs_777678022

7 SubmittersRCV000595474 RCV000786012 RCV001257889 RCV001783096

NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter)

SNV
Germline

Chr1:94056638

Pathogenic

Condition: not provided
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA26844053

rs_911580078

3 SubmittersRCV000594953 RCV005027700

NM_002900.3(RBP3):c.843C>T (p.Pro281=)

SNV
Germline

Chr10:47349327

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5487678

rs_35186791

7 SubmittersRCV000594133 RCV000888334 RCV001106850 RCV003889929

NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp)

SNV
Germline

Chr2:29074177

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1592724

rs_201706430

4 SubmittersRCV000593474 RCV001143465 RCV003889930

NM_000322.5(PRPH2):c.888C>T (p.Pro296=)

SNV
Germline

Chr6:42698448

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary retinal dystrophy
Adult-onset foveomacular vitelliform dystrophy
Retinitis pigmentosa
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Cone-rod dystrophy
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA3808492

rs_183714869

3 SubmittersRCV000594269 RCV001161265 RCV001161266 RCV001161268 RCV001161270 RCV001161267 RCV001161269 RCV001468812

NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys)

SNV
Germline

Chr15:89218681

Conflicting classifications of pathogenicity

Condition: not provided
Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Bothnia retinal dystrophy
Pigmentary retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7722406

rs_775252439

5 SubmittersRCV000596579 RCV002250668 RCV002282255 RCV005004260

NM_001378615.1(CC2D2A):c.4334G>A (p.Arg1445Gln)

SNV
Germline

Chr4:15596104

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder
Inborn genetic diseases
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2864377

rs_113065116

6 SubmittersRCV000592379 RCV001326524 RCV004732953 RCV004024748 RCV005034164

NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln)

SNV
Germline

Chr16:1511125

Conflicting classifications of pathogenicity

Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7812829

rs_113216558

5 SubmittersRCV000591433 RCV002497267 RCV001224336

NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg)

SNV
Germline

Chr1:94030438

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957650

rs_142506651

3 SubmittersRCV000594447 RCV005357785

NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=)

SNV
Germline

Chr2:96286417

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA1778350

rs_144934076

6 SubmittersRCV000596259 RCV001143285 RCV001701054

NM_206933.4(USH2A):c.11047+1G>A

SNV
Germline

Chr1:215766680

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA16609670

rs_201730567

9 SubmittersRCV000597898 RCV000670491 RCV001075129 RCV004586822 RCV005019022

NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)

SNV
Germline

Chr4:15589603

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA2864358

rs_146843542

7 SubmittersRCV000593757 RCV001755983 RCV001474086 RCV001146865 RCV001146866 RCV005034177

NM_001378615.1(CC2D2A):c.3643A>G (p.Ser1215Gly)

SNV
Germline

Chr4:15574198

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2864219

rs_765661601

4 SubmittersRCV000594362 RCV001312485 RCV004024856 RCV005034179

NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter)

SNV
Germline

Chr6:63721486

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA364384523

rs_1326635278

5 SubmittersRCV000597091 RCV002248812 RCV003889932

NM_152419.3(HGSNAT):c.852-2A>C

SNV
Germline

Chr8:43178072

Pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Multiple Submitters
No Conflicts

CA4736673

rs_755710040

3 SubmittersRCV000599289 RCV000669939 RCV001041537

NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)

SNV
Germline

Chr1:216097196

Pathogenic

Rare genetic deafness
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1395659

rs_199679165

11 SubmittersRCV000605510 RCV000669125 RCV001002689 RCV001208453 RCV003451354 RCV004732969

NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)

SNV
Germline

Chr1:215648657

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1393019

rs_143344549

15 SubmittersRCV000613330 RCV001040115 RCV001376397 RCV000986515 RCV003155245 RCV002506444 RCV004817810 RCV004732968

NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)

SNV
Germline

Chr1:215758743

Pathogenic

Rare genetic deafness
Usher syndrome
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Reviewed By Expert Panel

CA1393780

rs_777465132

6 SubmittersRCV000605356 RCV000710334 RCV001057761 RCV001271137 RCV003471974

NM_201253.3(CRB1):c.1192G>A (p.Val398Ile)

SNV
Germline

Chr1:197421020

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1311884

rs_144011428

3 SubmittersRCV000608690 RCV001101002 RCV001101000 RCV001101001 RCV002063186

NM_206933.4(USH2A):c.14134-9T>C

SNV
Germline

Chr1:215650810

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA37392676

rs_899521308

3 SubmittersRCV001486918 RCV003446254 RCV003446255

NM_006343.3(MERTK):c.1296+5G>A

SNV
Unknown

Chr2:111982998

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA658795841

rs_1553454799

1 SubmittersRCV000622651

NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)

SNV
Germline

Chr1:197435035

Pathogenic

Inborn genetic diseases
Stargardt disease
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344046346

rs_564754426

5 SubmittersRCV000623037 RCV000678549 RCV001040018 RCV003451477 RCV003451476

NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr1:212858454

Pathogenic/Likely pathogenic

Inborn genetic diseases
Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344794918

rs_1468358104

4 SubmittersRCV000623287 RCV001376323 RCV003117431

NM_014053.4(FLVCR1):c.3G>T (p.Met1Ile)

SNV
Germline

Chr1:212858455

Pathogenic

Inborn genetic diseases
Condition: not provided
Posterior column ataxia-retinitis pigmentosa syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA36896312

rs_899735028

3 SubmittersRCV000624418 RCV001207460 RCV005049619

NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)

SNV
Germline

Chr1:215647615

Pathogenic/Likely pathogenic

Inborn genetic diseases
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344831449

rs_1553250072

5 SubmittersRCV000624450 RCV003451479 RCV001049229 RCV005019035

NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)

SNV
Germline

Chr2:27459754

Conflicting classifications of pathogenicity

Inborn genetic diseases
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580242

rs_139229844

5 SubmittersRCV000622689 RCV000797619 RCV001561475 RCV002491337 RCV004547760

NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter)

SNV
Germline

Chr6:65335073

Pathogenic

Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3877649

rs_201823777

12 SubmittersRCV000625445 RCV001276908 RCV001058505 RCV001073246

NM_177965.4(CFAP418):c.269A>G (p.Asn90Ser)

SNV
Germline

Chr8:95260507

Conflicting classifications of pathogenicity

Cone-rod dystrophy 16
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
CFAP418-related disorder

Criteria Provided
Conflicting Classifications

CA4815197

rs_199731969

8 SubmittersRCV000625263 RCV001167827 RCV001700418 RCV003889939 RCV003905669

NM_206933.4(USH2A):c.13019G>T (p.Gly4340Val)

SNV
Germline

Chr1:215674892

Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Single Submitter

CA344847803

rs_1419157426

2 SubmittersRCV000625628 RCV003688867

NM_206933.4(USH2A):c.10388-1G>C

SNV
Germline

Chr1:215782936

Pathogenic

Retinitis pigmentosa 39

No Assertion Criteria Provided

CA344838260

rs_1553261478

1 SubmittersRCV000625627

NM_006343.3(MERTK):c.2486+1G>A

SNV
Germline

Chr2:112022395

Pathogenic

Retinitis pigmentosa 38
Retinal dystrophy

No Assertion Criteria Provided

CA348240272

rs_1309140887

2 SubmittersRCV000625642 RCV004817826

NM_201548.5(CERKL):c.239-2A>G

SNV
Germline

Chr2:181604081

Pathogenic

Retinitis pigmentosa 26
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2010884

rs_776886395

5 SubmittersRCV000625655 RCV001211583

NM_016247.4(IMPG2):c.85+2T>A

SNV
Germline

Chr3:101320286

Pathogenic

Retinitis pigmentosa 56

No Assertion Criteria Provided

CA353858985

rs_1553687118

1 SubmittersRCV000625596

NM_000283.4(PDE6B):c.1832+1G>T

SNV
Germline

Chr4:662619

Pathogenic

Retinitis pigmentosa 40
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA355917651

rs_370758397

3 SubmittersRCV000625541 RCV001199717 RCV001091291

NM_014714.4(IFT140):c.2577+25G>A

SNV
Germline

Chr16:1526594

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA658798460

rs_1423102192

5 SubmittersRCV000626460 RCV005019038 RCV001779029

NM_201548.5(CERKL):c.677+3A>G

SNV
Unknown

Chr2:181566055

Likely pathogenic

Severe photosensitivity
Macular dystrophy
Adult-onset night blindness
Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA658796090

rs_1553515435

1 SubmittersRCV000626730 RCV001199233

NM_201548.5(CERKL):c.481+2T>G

SNV
Germline

Chr2:181603835

Pathogenic/Likely pathogenic

Retinal pigment epithelial atrophy
Cone dystrophy
Retinitis pigmentosa 26
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2010833

rs_753994107

8 SubmittersRCV000626729 RCV000986950 RCV000787562 RCV001093154

NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter)

SNV
Germline

Chr6:42704581

Pathogenic

Condition: not provided
Retinitis pigmentosa
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364135722

rs_1554269081

6 SubmittersRCV000627208 RCV001003144 RCV001389850 RCV001074257

NM_152419.3(HGSNAT):c.887C>A (p.Ser296Ter)

SNV
Germline

Chr8:43178109

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371116962

rs_372933126

1 SubmittersRCV000652844

NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)

SNV
Germline

Chr14:67729248

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Retinitis pigmentosa
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390152963

rs_1239043055

5 SubmittersRCV000645726 RCV001003156 RCV001835041

NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)

SNV
Germline

Chr14:88872432

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Macular dystrophy
Retinitis pigmentosa 51
Bardet-Biedl syndrome 8
Retinitis pigmentosa
Bardet-Biedl syndrome 8
Inborn genetic diseases
TTC8-related disorder

Criteria Provided
Conflicting Classifications

CA7302713

rs_140698625

7 SubmittersRCV000638366 RCV000787890 RCV000765185 RCV001117718 RCV001117719 RCV002533215 RCV003928075

NM_018418.5(SPATA7):c.1255T>C (p.Leu419=)

SNV
Germline

Chr14:88437877

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7298786

rs_112976233

2 SubmittersRCV000642678 RCV001117498

NM_014714.4(IFT140):c.128T>C (p.Val43Ala)

SNV
Germline

Chr16:1607139

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814826

rs_372148301

3 SubmittersRCV000641163 RCV004692004 RCV005019066

NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)

SNV
Germline

ChrX:13749490

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Joubert syndrome 10
OFD1-related disorder

Criteria Provided
Conflicting Classifications

CA10351708

rs_778349684

3 SubmittersRCV000638947 RCV000766074 RCV004737917

NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter)

SNV
Germline

Chr19:54128119

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 11

Criteria Provided
Multiple Submitters
No Conflicts

CA407753046

rs_1555794205

4 SubmittersRCV000657792 RCV000991057 RCV001376220

NM_205861.3(DHDDS):c.109C>A (p.Arg37Ser)

SNV
Germline

Chr1:26438213

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 59

Criteria Provided
Conflicting Classifications

CA339138675

rs_1553121072

2 SubmittersRCV000658018 RCV005091891

NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)

SNV
Germline

Chr1:94029567

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957608

rs_142732109

5 SubmittersRCV000658513 RCV002249386 RCV002507145

NM_201253.3(CRB1):c.29T>C (p.Leu10Pro)

SNV
Germline

Chr1:197268441

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1311549

rs_201609001

4 SubmittersRCV000658537 RCV001526747 RCV001477776 RCV004817855

NM_025114.4(CEP290):c.6646-11T>G

SNV
Germline

Chr12:88059031

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA606675613

rs_1431021703

3 SubmittersRCV000658659 RCV001199653 RCV004817858

NM_025114.4(CEP290):c.43C>G (p.Pro15Ala)

SNV
Germline

Chr12:88141265

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA385990362

rs_1425716932

2 SubmittersRCV000658664 RCV001199652

NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His)

SNV
Germline

Chr17:1655533

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 13
PRPF8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA397569804

rs_1555550617

10 SubmittersRCV000658761 RCV001003134 RCV001074369 RCV000761333 RCV004758716

NM_001201543.2(FAM161A):c.1205C>G (p.Ser402Ter)

SNV
Germline

Chr2:61839799

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA346987033

rs_1553354522

3 SubmittersRCV000658866 RCV001199813

NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter)

SNV
Germline

Chr2:61840157

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 28
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA1679264

rs_748847284

6 SubmittersRCV000658867 RCV000761236 RCV001199815

NM_001142800.2(EYS):c.2499T>G (p.Phe833Leu)

SNV
Germline

Chr6:64912626

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA364786377

rs_1554217626

2 SubmittersRCV000659056 RCV001199683

NM_001563.4(IMPG1):c.1291+1G>T

SNV
Germline

Chr6:76002917

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA364769861

rs_1433546528

2 SubmittersRCV000659059 RCV001199480

NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter)

SNV
Germline

ChrX:38323420

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA412745769

rs_1555968524

2 SubmittersRCV000659152 RCV001199811

NM_006915.3(RP2):c.365G>A (p.Cys122Tyr)

SNV
Germline

ChrX:46853738

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA413039431

rs_1556318642

2 SubmittersRCV000659156 RCV001199753

NM_206933.4(USH2A):c.9919T>A (p.Cys3307Ser)

SNV
Germline

Chr1:215798946

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344848434

rs_1553263572

1 SubmittersRCV000661902

NM_152419.3(HGSNAT):c.235-9T>G

SNV
Germline

Chr8:43158566

Conflicting classifications of pathogenicity

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Conflicting Classifications

CA658822599

rs_913764481

2 SubmittersRCV000661919 RCV000661918 RCV001470454

NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter)

SNV
Germline

Chr4:47952608

Pathogenic

Retinitis pigmentosa 49
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA2911393

rs_199636364

11 SubmittersRCV000662351 RCV001268020 RCV001075248 RCV001002956

NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)

SNV
Germline

Chr1:215648726

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA37390459

rs_199851839

7 SubmittersRCV000668551 RCV000678645 RCV001075854 RCV001855501

NM_206933.4(USH2A):c.14344-1G>A

SNV
Unknown

Chr1:215648767

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

No Assertion Criteria Provided

CA344834343

rs_919142559

1 SubmittersRCV000673678

NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)

SNV
Germline

Chr1:215674290

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA37412255

rs_765476745

7 SubmittersRCV000670968 RCV001004142 RCV003453316 RCV001388593

NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)

SNV
Germline

Chr1:215675121

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA1393409

rs_200792578

7 SubmittersRCV000665011 RCV000924302 RCV001073347 RCV001835069 RCV004533463

NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter)

SNV
Germline

Chr1:215628921

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37369146

rs_763463859

3 SubmittersRCV000673159 RCV003698808 RCV003465523

NM_206933.4(USH2A):c.13811+1G>A

SNV
Germline

Chr1:215674099

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16609664

rs_1177257719

7 SubmittersRCV000672985 RCV001073725 RCV001231260 RCV003446335 RCV003446336 RCV005240444

NM_206933.4(USH2A):c.11048-2A>G

SNV
Germline

Chr1:215759845

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1393826

rs_200871041

9 SubmittersRCV000821987 RCV001074654 RCV002468597 RCV001810473

NM_206933.4(USH2A):c.10388-1G>A

SNV
Germline

Chr1:215782936

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344838261

rs_1553261478

5 SubmittersRCV000673642 RCV002531341 RCV003446338 RCV003446337

NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)

SNV
Germline

Chr1:215639190

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1392832

rs_757676723

10 SubmittersRCV000668847 RCV000792611 RCV001074753 RCV001276145 RCV001731867 RCV003453276

NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)

SNV
Germline

Chr1:215634578

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1392770

rs_752377040

7 SubmittersRCV000667292 RCV001004140 RCV001059699 RCV001075374 RCV003465473

NM_206933.4(USH2A):c.15052+1G>A

SNV
Unknown

Chr1:215639154

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

No Assertion Criteria Provided

CA344826228

rs_1553249290

1 SubmittersRCV000667083

NM_206933.4(USH2A):c.9959-1G>A

SNV
Unknown

Chr1:215790283

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA344844967

rs_970237364

1 SubmittersRCV000669892

NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)

SNV
Germline

Chr1:215799050

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1394199

rs_764182950

13 SubmittersRCV000668871 RCV000678659 RCV000986527 RCV001073802 RCV001209780 RCV001724125 RCV003389477

NM_206933.4(USH2A):c.11712-2A>C

SNV
Germline

Chr1:215728386

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1393631

rs_753505333

5 SubmittersRCV000672715 RCV003446330 RCV002532133 RCV003446331 RCV005240443

NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)

SNV
Germline

Chr1:215670974

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1393147

rs_747063294

13 SubmittersRCV000669826 RCV001074508 RCV001380767 RCV003453291 RCV003453292

NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)

SNV
Germline

Chr1:215671283

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1393192

rs_367674026

7 SubmittersRCV000673923 RCV001212324 RCV001075535 RCV001376439 RCV003453369

NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter)

SNV
Unknown

Chr1:215817114

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA344825039

rs_1553265829

1 SubmittersRCV000669839

NM_206933.4(USH2A):c.13811+2T>C

SNV
Unknown

Chr1:215674098

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA1393216

rs_766515318

1 SubmittersRCV000672770

NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)

SNV
Germline

Chr1:215838092

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA1394362

rs_779572631

9 SubmittersRCV000673284 RCV001074343 RCV001091126 RCV003453363 RCV003453364 RCV004584401

NM_206933.4(USH2A):c.14969-1G>A

SNV
Unknown

Chr1:215639239

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

No Assertion Criteria Provided

CA344826847

rs_1553249311

1 SubmittersRCV000664876

NM_206933.4(USH2A):c.9055+1G>A

SNV
Germline

Chr1:215845823

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344840105

rs_1553268562

5 SubmittersRCV000674124 RCV001861835 RCV003446340 RCV003446339

NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter)

SNV
Unknown

Chr1:215674817

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA344846621

rs_1163061829

1 SubmittersRCV000672003

NM_206933.4(USH2A):c.8682-2A>C

SNV
Germline

Chr1:215867172

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344851538

rs_1553271002

4 SubmittersRCV000670330 RCV001377278 RCV003446313 RCV003446312

NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)

SNV
Germline

Chr1:215728265

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344829065

rs_1431048303

6 SubmittersRCV000670856 RCV002265845 RCV003453311 RCV003453310 RCV003558512 RCV004817898

NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)

SNV
Germline

Chr1:215878765

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1394590

rs_749452910

6 SubmittersRCV000671631 RCV001389150 RCV001074600 RCV003453327 RCV003453326

NM_206933.4(USH2A):c.11712-2A>G

SNV
Unknown

Chr1:215728386

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA1393630

rs_753505333

1 SubmittersRCV000670898

NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)

SNV
Germline

Chr1:215888570

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344838956

rs_1553273330

7 SubmittersRCV000669141 RCV001073245 RCV001389152 RCV003453280 RCV003453281

NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)

SNV
Germline

Chr1:215779923

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1393903

rs_779716464

6 SubmittersRCV000666031 RCV001035468 RCV001273694 RCV003459575 RCV003889945

NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)

SNV
Germline

Chr1:215965470

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Retinal dystrophy
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA344852637

rs_1485173724

10 SubmittersRCV000674780 RCV000797378 RCV001829884 RCV003453389 RCV003389481 RCV004817912 RCV004527731

NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)

SNV
Germline

Chr1:215970680

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1395005

rs_759494205

5 SubmittersRCV000669684 RCV001073606 RCV000787739 RCV002271557 RCV002532090

NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn)

SNV
Germline

Chr1:215782125

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA344836727

rs_910086490

4 SubmittersRCV000674831 RCV001230929 RCV005240451

NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)

SNV
Germline

Chr1:215782146

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344836841

rs_1553261372

6 SubmittersRCV000673865 RCV001075394 RCV001861824 RCV003453367 RCV003453368

NM_206933.4(USH2A):c.14791+2T>A

SNV
Germline

Chr1:215647520

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344830652

rs_1553250050

3 SubmittersRCV000669209 RCV001855516 RCV003446306 RCV003446305

NM_206933.4(USH2A):c.11231+1G>A

SNV
Germline

Chr1:215759659

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA10575437

rs_111033382

3 SubmittersRCV000672187 RCV002531309 RCV003446325 RCV003446326

NM_206933.4(USH2A):c.6805+1G>T

SNV
Germline

Chr1:215993019

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344860088

rs_1553285919

5 SubmittersRCV000674125 RCV001380331 RCV003446341 RCV003446342

NM_206933.4(USH2A):c.6326-2A>G

SNV
Germline

Chr1:216000564

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344862029

rs_1553287118

3 SubmittersRCV000672161 RCV003446321 RCV002531307 RCV003446322

NM_206933.4(USH2A):c.14582+1G>C

SNV
Germline

Chr1:215648527

Likely pathogenic

Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344832977

rs_1553250150

5 SubmittersRCV001075758 RCV000664550 RCV001376398 RCV003446293 RCV003669164

NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)

SNV
Germline

Chr1:215648540

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
not specified
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1392993

rs_749889050

6 SubmittersRCV000674387 RCV001003250 RCV001047727 RCV001829883 RCV002271563 RCV003453383

NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)

SNV
Germline

Chr1:216078262

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344856312

rs_1553299079

9 SubmittersRCV000672460 RCV001091135 RCV001074797 RCV002272322 RCV002469251 RCV003453347

NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro)

SNV
Germline

Chr1:216084847

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344859302

rs_1162305984

6 SubmittersRCV000674537 RCV001300491 RCV003453385 RCV003453384

NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)

SNV
Germline

Chr1:215648686

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2

No Assertion Criteria Provided

CA344833863

rs_1553250184

2 SubmittersRCV000667924 RCV001003251

NM_206933.4(USH2A):c.13812-1G>A

SNV
Germline

Chr1:215671294

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA37410313

rs_199782530

5 SubmittersRCV000664526 RCV001868194 RCV003446291 RCV003446292 RCV004817862

NM_206933.4(USH2A):c.10586-2A>G

SNV
Germline

Chr1:215782198

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1393974

rs_370327669

5 SubmittersRCV000665854 RCV001861747 RCV003446297 RCV003446296 RCV004817871

NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)

SNV
Germline

Chr1:215674572

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1393310

rs_139474806

12 SubmittersRCV000669731 RCV001074211 RCV001003255 RCV001244688 RCV001376262 RCV003313971

NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)

SNV
Germline

Chr1:215782798

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37437831

rs_944675223

6 SubmittersRCV000670682 RCV003453308 RCV001383884 RCV003453309

NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr)

SNV
Germline

Chr1:215782858

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
USH2A-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA344837845

rs_1553261464

6 SubmittersRCV000669285 RCV001055911 RCV004723053 RCV004817888

NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg)

SNV
Germline

Chr1:215675331

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344850567

rs_769001387

4 SubmittersRCV000673184 RCV001376749 RCV003472152

NM_206933.4(USH2A):c.4397-1G>A

SNV
Germline

Chr1:216175483

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
USH2A-related disorder
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1395712

rs_199982344

9 SubmittersRCV000665749 RCV001205806 RCV001075029 RCV001835072 RCV003446295 RCV004533465 RCV005407858

NM_206933.4(USH2A):c.9258+1G>T

SNV
Germline

Chr1:215844293

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344838406

rs_748810737

7 SubmittersRCV000671455 RCV001855560 RCV003230570 RCV001075805 RCV003446317 RCV003446318

NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys)

SNV
Germline

Chr1:215782902

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1394016

rs_749121941

4 SubmittersRCV000669541 RCV001242045 RCV003459612 RCV004817892

NM_206933.4(USH2A):c.10388-2A>G

SNV
Germline

Chr1:215782937

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344838265

rs_1553261479

7 SubmittersRCV000670401 RCV001073509 RCV001212598 RCV001830446 RCV003446314

NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)

SNV
Germline

Chr1:215680175

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1393514

rs_780893919

8 SubmittersRCV001245259 RCV001810465 RCV001003257 RCV003459567 RCV004817866

NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)

SNV
Germline

Chr1:215680211

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37358034

rs_988693758

8 SubmittersRCV000668946 RCV001074255 RCV001062119 RCV001829851 RCV003453277

NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter)

SNV
Germline

Chr1:215867018

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1394494

rs_760302201

6 SubmittersRCV000673985 RCV001861829 RCV003453372 RCV003453373 RCV004817908

NM_206933.4(USH2A):c.8682-1G>A

SNV
Germline

Chr1:215867171

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344851536

rs_1553271001

4 SubmittersRCV000665425 RCV003459571 RCV003688868 RCV004817869

NM_206933.4(USH2A):c.3317-1G>A

SNV
Germline

Chr1:216200122

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344869180

rs_1553313909

3 SubmittersRCV000669263 RCV005091941

NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)

SNV
Germline

Chr1:216246618

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396169

rs_749621457

5 SubmittersRCV000666463 RCV003330880 RCV003451646 RCV003451647 RCV003889947

NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg)

SNV
Germline

Chr1:216246777

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA37501180

rs_1037325220

5 SubmittersRCV001868195 RCV000664639 RCV003451626 RCV003451625 RCV004782495

NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)

SNV
Germline

Chr1:215758656

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344820642

rs_749726310

4 SubmittersRCV000664530 RCV003451624 RCV003451623 RCV001247302

NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)

SNV
Germline

Chr1:215798994

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
not specified
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1394192

rs_138543813

11 SubmittersRCV000665320 RCV000825851 RCV001058364 RCV001276955 RCV004817868

NM_206933.4(USH2A):c.9258G>T (p.Gln3086His)

SNV
Germline

Chr1:215844294

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344838424

rs_1380261595

5 SubmittersRCV000671650 RCV001366543 RCV003459629 RCV004768540

NM_206933.4(USH2A):c.8558+1G>T

SNV
Germline

Chr1:215878763

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344830124

rs_770383273

5 SubmittersRCV000671361 RCV000818929 RCV001003266 RCV001075752 RCV003446316 RCV003446315

NM_206933.4(USH2A):c.2168-2A>G

SNV
Germline

Chr1:216247228

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37501658

rs_993185407

8 SubmittersRCV000672583 RCV001073756 RCV001199965 RCV001382734 RCV002272323 RCV003446327

NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)

SNV
Germline

Chr1:216292291

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396414

rs_483353054

8 SubmittersRCV000667787 RCV001073924 RCV001067227 RCV001271239 RCV003451662

NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)

SNV
Germline

Chr1:216323634

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA344910217

rs_1423536179

6 SubmittersRCV000666327 RCV001377824 RCV004568500 RCV005431855 RCV001073487

NM_206933.4(USH2A):c.7595-1G>A

SNV
Germline

Chr1:215889055

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344841967

rs_1553273421

3 SubmittersRCV004568546 RCV005614437 RCV000671968

NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)

SNV
Germline

Chr1:215844433

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344838994

rs_1269642027

4 SubmittersRCV000670876 RCV001381383 RCV001830449 RCV003453315

NM_206933.4(USH2A):c.8846-2A>G

SNV
Unknown

Chr1:215846035

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA344842277

rs_1553268594

1 SubmittersRCV000668753

NM_206933.4(USH2A):c.6485+1G>A

SNV
Germline

Chr1:216000402

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344861560

rs_1553287070

6 SubmittersRCV000672769 RCV001861813 RCV003446332 RCV003446333

NM_206933.4(USH2A):c.6050-2A>G

SNV
Germline

Chr1:216048649

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395246

rs_772124060

5 SubmittersRCV000670084 RCV001377849 RCV001829862 RCV003446311

NM_206933.4(USH2A):c.8845+1G>A

SNV
Unknown

Chr1:215867006

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344850895

rs_1553270954

2 SubmittersRCV000669904 RCV003472118

NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter)

SNV
Germline

Chr1:215867017

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Single Submitter

CA344850957

rs_1553270960

2 SubmittersRCV000669486 RCV004817890

NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)

SNV
Germline

Chr1:216422294

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344905143

rs_1553258122

4 SubmittersRCV000670151 RCV001855538 RCV003155271 RCV003453295 RCV003453294

NM_206933.4(USH2A):c.5572+1G>A

SNV
Germline

Chr1:216078088

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395428

rs_775293551

9 SubmittersRCV000815036 RCV001835904 RCV000664714 RCV001073564 RCV003446294

NM_206933.4(USH2A):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:216422336

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA37922164

rs_924627806

4 SubmittersRCV000669526 RCV001101305 RCV001101306 RCV001855521

NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu)

SNV
Germline

Chr1:215888778

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1394727

rs_748455430

5 SubmittersRCV000671207 RCV001074307 RCV003459622 RCV002531272

NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)

SNV
Germline

Chr1:215900101

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344847056

rs_1553274424

4 SubmittersRCV000672102 RCV001231865 RCV003453343 RCV003453342

NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)

SNV
Germline

Chr1:215817098

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394306

rs_772100045

9 SubmittersRCV000671836 RCV000795361 RCV001273701 RCV001844217 RCV003453335

NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)

SNV
Germline

Chr1:216175263

Conflicting classifications of pathogenicity

Retinal dystrophy
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1395684

rs_758095361

7 SubmittersRCV001073769 RCV001810466 RCV002530650 RCV003459568 RCV001731858 RCV005019103

NM_206933.4(USH2A):c.8846-1G>T

SNV
Germline

Chr1:215846034

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344842267

rs_771051185

4 SubmittersRCV000674857 RCV001724130 RCV002531363 RCV003446345 RCV003446346

NM_206933.4(USH2A):c.7595-1G>T

SNV
Germline

Chr1:215889055

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344841963

rs_1553273421

4 SubmittersRCV000669247 RCV002532085 RCV003446308 RCV003446307

NM_206933.4(USH2A):c.4988-2A>G

SNV
Germline

Chr1:216084879

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1395555

rs_143521854

4 SubmittersRCV000666589 RCV002530692 RCV003446299 RCV003446298

NM_206933.4(USH2A):c.4886-1G>A

SNV
Germline

Chr1:216086821

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344860054

rs_1553300340

4 SubmittersRCV000672653 RCV001377692 RCV003446329 RCV003446328

NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)

SNV
Germline

Chr1:216089077

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1395609

rs_745350407

7 SubmittersRCV000671982 RCV001074119 RCV001868259 RCV003453338 RCV003453339 RCV003389478

NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)

SNV
Germline

Chr1:216190312

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344865390

rs_1230923403

4 SubmittersRCV000669208 RCV002265843 RCV002532084

NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)

SNV
Germline

Chr1:216198476

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1395872

rs_756623509

8 SubmittersRCV000669530 RCV001268204 RCV003453288 RCV003453289 RCV004817891

NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)

SNV
Germline

Chr1:216198513

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1395883

rs_764797292

7 SubmittersRCV000672888 RCV001271229 RCV001047995 RCV003453359 RCV003389479

NM_206933.4(USH2A):c.2994-2A>G

SNV
Unknown

Chr1:216217552

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

No Assertion Criteria Provided

CA344863038

rs_1553316430

1 SubmittersRCV000665610

NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)

SNV
Germline

Chr1:216246784

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Usher syndrome
Rare genetic deafness
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396201

rs_767078782

15 SubmittersRCV000673272 RCV001271234 RCV001384598 RCV000826153 RCV001075425 RCV003453362

NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg)

SNV
Germline

Chr1:216292286

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA344903241

rs_1553327470

3 SubmittersRCV000668480 RCV001377823 RCV003889952

NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)

SNV
Germline

Chr1:216084698

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
USH2A-related disorder
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344858668

rs_1342455785

10 SubmittersRCV000667892 RCV001075428 RCV001067077 RCV001276250 RCV004533468 RCV003451666 RCV004768527

NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)

SNV
Germline

Chr1:216196630

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344866400

rs_1177198729

6 SubmittersRCV000666713 RCV001065685 RCV001003274 RCV001376203 RCV003451652 RCV004817872

NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)

SNV
Germline

Chr1:216292337

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
not specified
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396428

rs_147509797

7 SubmittersRCV000666371 RCV001101108 RCV001101109 RCV001302702 RCV003330879 RCV003451645 RCV003889946

NM_206933.4(USH2A):c.4082-2A>G

SNV
Unknown

Chr1:216196724

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA344866791

rs_1553313340

1 SubmittersRCV000669313

NM_206933.4(USH2A):c.1972-1G>A

SNV
Germline

Chr1:216251099

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37503899

rs_372927796

6 SubmittersRCV000672169 RCV001074724 RCV001377215 RCV003446323 RCV003446324

NM_206933.4(USH2A):c.4081+2T>C

SNV
Unknown

Chr1:216198313

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA344866842

rs_1553313505

1 SubmittersRCV000670108

NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)

SNV
Germline

Chr1:216323474

Conflicting classifications of pathogenicity

Retinal dystrophy
Usher syndrome
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA344909389

rs_1393503590

7 SubmittersRCV001075316 RCV001797777 RCV001230842 RCV001376349 RCV001810471

NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)

SNV
Germline

Chr1:216323627

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344910184

rs_1553250627

5 SubmittersRCV000670287 RCV001300493 RCV001829863 RCV003459614

NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)

SNV
Germline

Chr1:216246597

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344864015

rs_1394737087

4 SubmittersRCV000669105 RCV001727791 RCV002531217 RCV003453279

NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr)

SNV
Germline

Chr1:216323483

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396494

rs_768813865

3 SubmittersRCV000666580 RCV001227344 RCV003459581

NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)

SNV
Germline

Chr1:216246741

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Conflicting Classifications

CA1396195

rs_746071929

11 SubmittersRCV001244238 RCV001075434 RCV001098933 RCV001376385 RCV005010648 RCV005418282

NM_206933.4(USH2A):c.2168-1G>C

SNV
Germline

Chr1:216247227

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Hearing impairment
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396273

rs_748961218

9 SubmittersRCV000672901 RCV001075017 RCV001092379 RCV001526604 RCV001829879 RCV003446334

NM_206933.4(USH2A):c.2167+5G>A

SNV
Germline

Chr1:216250898

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1396296

rs_771583281

13 SubmittersRCV000667707 RCV001035076 RCV001003280 RCV001073540 RCV001376264 RCV001829844 RCV002509496 RCV004732991

NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)

SNV
Germline

Chr1:216251047

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA37503819

rs_868562952

7 SubmittersRCV000669090 RCV001861774 RCV001727790 RCV003453278 RCV004817887

NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly)

SNV
Germline

Chr1:216325408

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396616

rs_762384558

4 SubmittersRCV000669952 RCV002531241 RCV003472120

NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)

SNV
Germline

Chr1:216289392

Pathogenic

Usher syndrome type 2A
Usher syndrome
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
USH2A-related disorder

Reviewed By Expert Panel

CA1396372

rs_758571672

9 SubmittersRCV000761343 RCV001171545 RCV001208650 RCV000664581 RCV003472065 RCV004533461

NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)

SNV
Germline

Chr1:216325451

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
not specified
Condition: not provided
Retinitis pigmentosa 39
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA1396626

rs_368986242

7 SubmittersRCV000665398 RCV001074493 RCV002233096 RCV002530654 RCV003465441 RCV004533464

NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)

SNV
Germline

Chr1:216327611

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344912839

rs_1553250952

7 SubmittersRCV000666765 RCV000760349 RCV001841851 RCV002468596 RCV004817874

NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)

SNV
Germline

Chr1:216418627

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344902627

rs_1171672823

7 SubmittersRCV000669584 RCV001058017 RCV001797778 RCV001829859 RCV004568526

NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)

SNV
Germline

Chr1:216325447

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396624

rs_758303489

8 SubmittersRCV000667534 RCV001003286 RCV001075062 RCV001382060 RCV001835907 RCV003459585

NM_206933.4(USH2A):c.651+1G>A

SNV
Germline

Chr1:216418513

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344902135

rs_1553257761

4 SubmittersRCV000668857 RCV001054302 RCV001526995 RCV003446301 RCV003446302

NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)

SNV
Germline

Chr1:216421888

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344903763

rs_1553258037

3 SubmittersRCV000672162 RCV002531308 RCV003453344 RCV003453345

NM_206933.4(USH2A):c.187C>T (p.Arg63Ter)

SNV
Germline

Chr1:216422150

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396846

rs_781223647

7 SubmittersRCV000672792 RCV001074678 RCV001037535 RCV001835910 RCV003453356

NM_206933.4(USH2A):c.232T>G (p.Phe78Val)

SNV
Germline

Chr1:216422105

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396832

rs_775094277

6 SubmittersRCV000674232 RCV001830462 RCV001300495 RCV003459644 RCV004817909

NM_017739.4(POMGNT1):c.1152+2T>C

SNV
Germline

Chr1:46193172

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

CA340179317

rs_1553163335

4 SubmittersRCV003465534 RCV004584792 RCV005019164

NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)

SNV
Germline

Chr1:46192124

Conflicting classifications of pathogenicity

Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA833345

rs_760705290

10 SubmittersRCV000668943 RCV001247989 RCV001731868 RCV001809739 RCV005027798 RCV005409712 RCV002531215 RCV003459603 RCV003889953

NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)

SNV
Germline

Chr1:68438958

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
RPE65-related recessive retinopathy
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA340744630

rs_1169420841

5 SubmittersRCV000672144 RCV004788098 RCV004801923 RCV005034264

NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)

SNV
Germline

Chr1:68439294

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
RPE65-related recessive retinopathy
not specified

Reviewed By Expert Panel

CA340745829

rs_1553153135

5 SubmittersRCV000672055 RCV001549804 RCV004527392 RCV004768542

NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)

SNV
Germline

Chr1:46196047

Pathogenic/Likely pathogenic

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA833756

rs_375431575

10 SubmittersRCV000674794 RCV001788317 RCV001810481 RCV001200334 RCV001244825 RCV002531361 RCV005019166

NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)

SNV
Germline

Chr2:181544762

Pathogenic/Likely pathogenic

Retinitis pigmentosa 26
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA349734466

rs_1187839124

9 SubmittersRCV000671115 RCV000794851 RCV001074698

NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)

SNV
Germline

Chr3:150928094

Pathogenic/Likely pathogenic

Usher syndrome type 3
Retinitis pigmentosa 61
Retinitis pigmentosa 61
Usher syndrome type 3A
Usher syndrome type 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA354953098

rs_376155416

4 SubmittersRCV000667382 RCV003465476 RCV005034244 RCV005430562

NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu)

SNV
Germline

Chr6:63721171

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Condition: not provided
Retinitis pigmentosa
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA140236822

rs_79036642

5 SubmittersRCV000667564 RCV000938879 RCV001164470 RCV002271554 RCV003889950

NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu)

SNV
Germline

Chr6:64066431

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3876892

rs_145623359

6 SubmittersRCV000671055 RCV000779516 RCV001059673 RCV004817899

NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val)

SNV
Germline

Chr6:64081865

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA3876903

rs_184448644

6 SubmittersRCV000667276 RCV001055122 RCV001272973 RCV003889948 RCV004702283

NM_001142800.2(EYS):c.2259+1G>A

SNV
Germline

Chr6:64997581

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
EYS-related retinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA3877304

rs_752736741

10 SubmittersRCV000674793 RCV001051444 RCV001003024 RCV003889965 RCV005357896

NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)

SNV
Germline

Chr6:65296034

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3877366

rs_142450703

9 SubmittersRCV000667034 RCV001003026 RCV001248547

NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser)

SNV
Germline

Chr6:64813492

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided
Optic atrophy

Criteria Provided
Conflicting Classifications

CA3877173

rs_143327210

6 SubmittersRCV000670338 RCV001159869 RCV000908975 RCV004817896

NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu)

SNV
Germline

Chr6:64886803

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Condition: not provided
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3877239

rs_766153322

4 SubmittersRCV000669964 RCV001244051 RCV003488796 RCV003889958

NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu)

SNV
Germline

Chr6:63778036

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3876771

rs_559824825

6 SubmittersRCV000672988 RCV000926124 RCV004817903

NM_001142800.2(EYS):c.7229-1G>A

SNV
Germline

Chr6:63806373

Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Single Submitter

CA364388581

rs_1554171033

2 SubmittersRCV000668387 RCV002530745

NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)

SNV
Germline

Chr6:65334981

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Macular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3877627

rs_778030177

6 SubmittersRCV000666796 RCV000787833 RCV002530696

NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp)

SNV
Germline

Chr6:64886797

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Condition: not provided
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3877238

rs_762212630

4 SubmittersRCV000669963 RCV001244052 RCV003488795 RCV003889957

NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)

SNV
Germline

Chr8:43191495

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Sanfilippo syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4736794

rs_775078211

9 SubmittersRCV000664501 RCV000793723 RCV000780339 RCV001698770

NM_152419.3(HGSNAT):c.1614-2A>T

SNV
Germline

Chr8:43197838

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA371120599

rs_1554537807

4 SubmittersRCV000672832 RCV001855586 RCV003489791 RCV004817902

NM_152419.3(HGSNAT):c.852-1G>A

SNV
Germline

Chr8:43178073

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Multiple Submitters
No Conflicts

CA371116836

rs_1447092074

4 SubmittersRCV000672518 RCV001383039

NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)

SNV
Germline

Chr8:43178169

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA371117205

rs_1554533211

4 SubmittersRCV000668961 RCV001264578 RCV001855511

NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)

SNV
Germline

Chr8:43182163

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4736734

rs_766835582

4 SubmittersRCV000666423 RCV001383040 RCV002254940

NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)

SNV
Germline

Chr8:43192323

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4736833

rs_747616932

4 SubmittersRCV000674664 RCV001868282 RCV002282322

NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter)

SNV
Germline

Chr8:43197900

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA371120726

rs_1554537841

2 SubmittersRCV000669029 RCV003767971

NM_152419.3(HGSNAT):c.1129-2A>T

SNV
Germline

Chr8:43191472

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA4736789

rs_749568919

4 SubmittersRCV000670012 RCV001069675

NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu)

SNV
Germline

Chr8:43196949

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA371120116

rs_1554537586

3 SubmittersRCV000669280 RCV001390807

NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter)

SNV
Germline

Chr8:43196999

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Condition: not provided
Sanfilippo syndrome
Retinal dystrophy
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA4736923

rs_747240928

9 SubmittersRCV000667348 RCV001040598 RCV001556095 RCV002222590 RCV004817877 RCV004760686

NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)

SNV
Germline

Chr11:66519689

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA6123439

rs_761760689

3 SubmittersRCV000670649 RCV001861797 RCV001724126

NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr)

SNV
Germline

Chr15:71817646

Conflicting classifications of pathogenicity

Enhanced S-cone syndrome
Retinitis pigmentosa 37
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7640544

rs_199564404

4 SubmittersRCV000668213 RCV002532069 RCV004817883

NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)

SNV
Germline

Chr16:56497063

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA281478600

rs_201063733

5 SubmittersRCV000668757 RCV000806329 RCV002507165

NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)

SNV
Germline

Chr16:56499867

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Condition: not provided
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8065736

rs_778090540

9 SubmittersRCV000668777 RCV004588095 RCV005019129 RCV000794157

NM_031885.5(BBS2):c.944G>A (p.Arg315Gln)

SNV
Germline

Chr16:56502453

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinal dystrophy
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA281481247

rs_544773389

4 SubmittersRCV000670759 RCV002532103 RCV003889960 RCV005019139

NM_031885.5(BBS2):c.534+1G>T

SNV
Germline

Chr16:56510858

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Retinal dystrophy
Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8066019

rs_773862084

12 SubmittersRCV000669469 RCV000762968 RCV001075332 RCV001784258 RCV000694960

NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)

SNV
Germline

Chr16:56497760

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
BBS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8065629

rs_762047808

8 SubmittersRCV000665245 RCV000802962 RCV002507153 RCV004732987

NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter)

SNV
Germline

Chr16:56497835

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA395976027

rs_1555521501

5 SubmittersRCV000665957 RCV001049752 RCV005019107

NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)

SNV
Germline

Chr16:56502799

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
BBS2-related disorder
Condition: not provided
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA8065909

rs_764164384

12 SubmittersRCV000667444 RCV000808886 RCV004732990 RCV001528280 RCV002499159 RCV003889949

NM_031885.5(BBS2):c.717+1G>A

SNV
Germline

Chr16:56506119

Pathogenic

Bardet-Biedl syndrome 2
Condition: not provided
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA281482531

rs_1047075022

5 SubmittersRCV000668445 RCV001784253 RCV003523007 RCV005019126

NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)

SNV
Germline

Chr16:56506137

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Retinal dystrophy
BBS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8065961

rs_779690256

10 SubmittersRCV000669549 RCV000815857 RCV001597198 RCV002507167 RCV003889955 RCV004544929

NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)

SNV
Germline

Chr16:56514557

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Retinal dystrophy
Condition: not provided
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA8066092

rs_750506474

6 SubmittersRCV000673306 RCV001075001 RCV001092931 RCV001377155 RCV005019156

NM_012106.4(ARL2BP):c.207+1G>T

SNV
Germline

Chr16:57248644

Pathogenic

Retinitis pigmentosa with or without situs inversus
Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA8074877

rs_199830550

2 SubmittersRCV000677195 RCV001257803

NM_000329.3(RPE65):c.718G>T (p.Val240Phe)

SNV
Germline

Chr1:68439568

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA902422

rs_192907397

5 SubmittersRCV001244442 RCV000754973 RCV005034282 RCV003232070

NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)

SNV
Germline

Chr1:68446713

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy
Retinitis pigmentosa
Condition: not provided

Reviewed By Expert Panel

CA340748885

rs_1429137932

6 SubmittersRCV001098872 RCV001053470 RCV000754977 RCV004527393 RCV001098873 RCV001756143

NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)

SNV
Germline

Chr1:215900168

Pathogenic

Usher syndrome type 2A
Ear malformation
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344848462

rs_1558151555

4 SubmittersRCV000678655 RCV001814216 RCV003459648 RCV003558534

NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)

SNV
Germline

Chr1:215970656

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1395000

rs_748983904

4 SubmittersRCV000678654 RCV003558533 RCV004817921

NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)

SNV
Germline

Chr1:215993103

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344860455

rs_1057518826

8 SubmittersRCV000678653 RCV001042036 RCV001724131 RCV002283505 RCV002469254

NM_206933.4(USH2A):c.1965T>G (p.Cys655Trp)

SNV
Unknown

Chr1:216289286

Likely pathogenic

Retinitis pigmentosa 39

No Assertion Criteria Provided

CA344902561

rs_1558366840

1 SubmittersRCV000678648

NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)

SNV
Germline

Chr1:68431116

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340741969

rs_1395763356

4 SubmittersRCV000678615 RCV001868293 RCV004702311 RCV004801924

NM_000283.4(PDE6B):c.583A>T (p.Lys195Ter)

SNV
Unknown

Chr4:634791

Pathogenic

Retinitis pigmentosa 40

No Assertion Criteria Provided

CA355908338

rs_1212998897

1 SubmittersRCV000678597

NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)

SNV
Germline

Chr6:64388718

Pathogenic/Likely pathogenic

Macular dystrophy
Condition: not provided
Retinitis pigmentosa 25
Autosomal recessive retinitis pigmentosa
EYS-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA140315856

rs_868349465

9 SubmittersRCV000678568 RCV001034750 RCV002499195 RCV001257882 RCV004751660 RCV004817916

NM_001142800.2(EYS):c.103C>T (p.Gln35Ter)

SNV
Germline

Chr6:65495308

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364790646

rs_749410700

4 SubmittersRCV000678561 RCV001701433

NM_006269.2(RP1):c.1451C>A (p.Ser484Ter)

SNV
Unknown

Chr8:54625333

Pathogenic/Likely pathogenic

Retinitis pigmentosa 1
Retinal dystrophy

No Assertion Criteria Provided

CA370990396

rs_1563329888

2 SubmittersRCV000678609 RCV000787688

NM_182894.3(VSX2):c.609G>A (p.Trp203Ter)

SNV
Unknown

Chr14:74259631

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA390369164

rs_1566888340

1 SubmittersRCV000678661

NM_015072.5(TTLL5):c.1487+1G>A

SNV
Unknown

Chr14:75745582

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA390465908

rs_1566585766

1 SubmittersRCV000678634

NM_004727.3(SLC24A1):c.95T>A (p.Leu32Ter)

SNV
Germline

Chr15:65624175

Pathogenic

Retinitis pigmentosa
Congenital stationary night blindness 1D

Criteria Provided
Single Submitter

CA392912392

rs_1566945534

2 SubmittersRCV000678630 RCV005253062

NM_000554.6(CRX):c.205C>T (p.Arg69Cys)

SNV
Germline

Chr19:47836347

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA9544418

rs_771551785

4 SubmittersRCV000678552 RCV002531393 RCV001074637

NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys)

SNV
Germline

Chr19:54126582

Conflicting classifications of pathogenicity

Retinitis pigmentosa 11
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309327912

rs_750340477

6 SubmittersRCV000678605 RCV001074752 RCV001584548

NM_015629.4(PRPF31):c.1291C>T (p.Gln431Ter)

SNV
Germline

Chr19:54129287

Pathogenic

Retinitis pigmentosa 11
Condition: not provided

Criteria Provided
Single Submitter

CA407755512

rs_1568600184

2 SubmittersRCV000678604 RCV002532180

NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)

SNV
Germline

Chr1:216199777

Pathogenic

Deafness
Hearing loss, autosomal recessive
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1395949

rs_767797828

6 SubmittersRCV000679847 RCV001291497 RCV005010672 RCV001068678 RCV003459653 RCV005240456

NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter)

SNV
Germline

Chr1:215680292

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344816473

rs_1262416703

4 SubmittersRCV000680443 RCV003465549 RCV001383777

NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser)

SNV
Germline

Chr1:197427873

Pathogenic

Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1312139

rs_776591659

3 SubmittersRCV001542641 RCV000684930 RCV003472183

NM_205861.3(DHDDS):c.614G>A (p.Arg205Gln)

SNV
Germline

Chr1:26457862

Pathogenic

Retinitis pigmentosa 59
Condition: not provided
Developmental delay and seizures with or without movement abnormalities

Criteria Provided
Multiple Submitters
No Conflicts

CA339144756

rs_1557447255

9 SubmittersRCV000691673 RCV001539674 RCV002233230

NM_015662.3(IFT172):c.811C>T (p.Arg271Ter)

SNV
Germline

Chr2:27480124

Pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Single Submitter

CA346397376

rs_1250676888

1 SubmittersRCV000702336

NM_001278293.3(ARL6):c.185+1G>C

SNV
Germline

Chr3:97780221

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
ARL6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA353585855

rs_1559679965

2 SubmittersRCV000698473 RCV005231287

NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter)

SNV
Germline

Chr8:43169216

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA371115990

rs_1563366896

4 SubmittersRCV000689696 RCV000780340 RCV004817927

NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)

SNV
Germline

Chr16:1583369

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa
IFT140-associated disorder
IFT140-related disorder
Renal cyst
Polycystic kidney disease 9, susceptibility to

Criteria Provided
Multiple Submitters
No Conflicts

CA7814321

rs_140039128

7 SubmittersRCV000704469 RCV001535954 RCV001724143 RCV005622011 RCV003411642 RCV004788137 RCV005260366

NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)

SNV
Germline

Chr8:43197848

Pathogenic/Likely pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4736983

rs_756310864

8 SubmittersRCV000689608 RCV001074231 RCV001358677 RCV003323688 RCV005051817

NM_014714.4(IFT140):c.481C>G (p.Pro161Ala)

SNV
Germline

Chr16:1592477

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
IFT140-related disorder
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7814693

rs_148462329

5 SubmittersRCV000697881 RCV003953241 RCV005021079 RCV004817938

NM_003611.3(OFD1):c.324G>A (p.Met108Ile)

SNV
Germline

ChrX:13738857

Conflicting classifications of pathogenicity

Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Joubert syndrome 10
Retinitis pigmentosa 23
not specified
Joubert syndrome
Orofaciodigital syndrome I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10351574

rs_763219658

4 SubmittersRCV000766073 RCV003330905 RCV000692393 RCV003133533

NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu)

SNV
Germline

Chr20:3923290

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Pigmentary pallidal degeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9750964

rs_41279408

5 SubmittersRCV000690887 RCV000764234 RCV001815429

NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter)

SNV
Germline

Chr11:66526189

Pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381422342

rs_1160669210

3 SubmittersRCV000735917 RCV001724144 RCV003106027

NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)

SNV
Germline

Chr16:56510871

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA8066026

rs_767373822

5 SubmittersRCV000735928 RCV003460994 RCV005021107

NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr)

SNV
Germline

Chr1:197429570

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA344041226

rs_1558133731

2 SubmittersRCV000754590 RCV002532969

NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)

SNV
Germline

Chr1:68439224

Pathogenic

Congenital isolated adrenocorticotropic hormone deficiency
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Retinal dystrophy
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340745589

rs_988133284

5 SubmittersRCV000754599 RCV001382566 RCV001731903 RCV004817950 RCV004569407

NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro)

SNV
Germline

Chr20:3916956

Conflicting classifications of pathogenicity

Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

Criteria Provided
Conflicting Classifications

CA408119285

rs_1241995212

3 SubmittersRCV000714591 RCV000714592

NM_004311.4(ARL3):c.269A>G (p.Tyr90Cys)

SNV
Germline

Chr10:102689939

Conflicting classifications of pathogenicity

Retinitis pigmentosa 83
Condition: not provided

Criteria Provided
Conflicting Classifications

CA377922038

rs_1564730440

3 SubmittersRCV000714966 RCV001862010

NM_000350.3(ABCA4):c.2587+2T>C

SNV
Germline

Chr1:94055109

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341276768

rs_1557783989

4 SubmittersRCV000722087 RCV001868917 RCV005027888

NM_014003.4(DHX38):c.971G>A (p.Arg324Gln)

SNV
Germline

Chr16:72099742

Likely pathogenic

Retinitis pigmentosa 84
Autosomal recessive retinitis pigmentosa

Criteria Provided
Single Submitter

CA283678379

rs_766053952

3 SubmittersRCV000723361 RCV001034602

NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly)

SNV
Germline

Chr16:1557974

Conflicting classifications of pathogenicity

Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7813929

rs_144938800

5 SubmittersRCV000728408 RCV000813538 RCV002477684 RCV004753015 RCV004817955

NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln)

SNV
Germline

Chr4:15599585

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
not specified
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA2864415

rs_200645738

7 SubmittersRCV000728777 RCV001245116 RCV003994099 RCV005036052

NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg)

SNV
Germline

ChrX:38323399

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Primary ciliary dyskinesia
Retinitis pigmentosa 3

Criteria Provided
Conflicting Classifications

CA412745725

rs_281865296

7 SubmittersRCV000728997 RCV001073452 RCV002536421 RCV004546559

NM_000440.3(PDE6A):c.933+4C>T

SNV
Germline

Chr5:149921631

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504890

rs_12109444

3 SubmittersRCV000729000 RCV001153812 RCV001512641

NM_206933.4(USH2A):c.4943T>C (p.Leu1648Pro)

SNV
Germline

Chr1:216086763

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
not specified

Criteria Provided
Conflicting Classifications

CA344859791

rs_1558251712

5 SubmittersRCV000729471 RCV001199797 RCV003461003 RCV004702375

NM_201548.5(CERKL):c.239-1G>A

SNV
Germline

Chr2:181604080

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349731151

rs_1559100465

3 SubmittersRCV000729677 RCV001825455

NM_000539.3(RHO):c.759G>T (p.Met253Ile)

SNV
Germline

Chr3:129532595

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary retinal dystrophy
Retinitis pigmentosa 4
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2607284

rs_756658659

6 SubmittersRCV000729715 RCV001196773 RCV001265204 RCV004817958

NM_001378615.1(CC2D2A):c.949G>A (p.Gly317Arg)

SNV
Germline

Chr4:15515936

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2863525

rs_188018643

3 SubmittersRCV000730217 RCV001868951 RCV005036060

NM_001102564.3(IFT43):c.296-5602T>C

SNV
Germline

Chr14:76076693

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 81
Connective tissue disorder
Cranioectodermal dysplasia 3
Short-rib thoracic dysplasia 18 with polydactyly

Criteria Provided
Conflicting Classifications

CA7280808

rs_141114765

6 SubmittersRCV000731746 RCV001197867 RCV002279505 RCV005357972

NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter)

SNV
Germline

Chr20:2664155

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 46

Criteria Provided
Conflicting Classifications

CA310885791

rs_745313320

3 SubmittersRCV000732343 RCV002499364

NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His)

SNV
Germline

Chr4:15599615

Conflicting classifications of pathogenicity

Condition: not provided
not specified
COACH syndrome 2
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA92536417

rs_886940102

7 SubmittersRCV000733512 RCV003155300 RCV004798862 RCV003106045 RCV004527765 RCV005036071

NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)

SNV
Germline

Chr1:216198380

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Usher syndrome type 2
Inborn genetic diseases
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1395854

rs_781668118

8 SubmittersRCV000734013 RCV001075084 RCV001825481 RCV002307609 RCV002535362 RCV005010743

NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys)

SNV
Germline

Chr4:15514740

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Condition: not provided
Joubert syndrome 9
CC2D2A-related disorder
Inborn genetic diseases
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2863489

rs_374554530

6 SubmittersRCV001063569 RCV001145025 RCV000734125 RCV001145026 RCV004527766 RCV003258954 RCV005029398

NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter)

SNV
Germline

Chr2:29073071

Pathogenic

Retinitis pigmentosa 54
Condition: not provided

Criteria Provided
Single Submitter

CA1592476

rs_777103184

2 SubmittersRCV000735858 RCV003660832

NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr)

SNV
Germline

Chr10:69247586

Conflicting classifications of pathogenicity

Nonsyndromic cleft lip palate
Retinitis pigmentosa 92

Criteria Provided
Conflicting Classifications

CA5531461

rs_201518882

3 SubmittersRCV000755127 RCV003492161

NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln)

SNV
Germline

Chr13:41811285

Conflicting classifications of pathogenicity

Nonsyndromic cleft lip palate
Condition: not provided
Retinitis pigmentosa 97

Criteria Provided
Conflicting Classifications

CA6964224

rs_138075452

4 SubmittersRCV000755133 RCV003392577 RCV003492162

NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile)

SNV
Germline

Chr1:197421120

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1311902

rs_751691851

4 SubmittersRCV000755992 RCV001825490 RCV001049610 RCV004027122

NM_006343.3(MERTK):c.1618G>A (p.Glu540Lys)

SNV
Germline

Chr2:112001214

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1831487

rs_113485015

3 SubmittersRCV000757462 RCV001136225

NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr)

SNV
Germline

Chr2:96283577

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1778155

rs_199736893

4 SubmittersRCV000756672 RCV001141440 RCV003889973

NM_000440.3(PDE6A):c.103G>A (p.Asp35Asn)

SNV
Germline

Chr5:149944571

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3505145

rs_374847529

4 SubmittersRCV000757603 RCV001154773 RCV004817968

NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)

SNV
Germline

Chr6:65353609

Pathogenic

Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364661939

rs_1471994744

9 SubmittersRCV000758197 RCV001003028 RCV001043442 RCV001075396

NM_001621.5(AHR):c.1160+1G>A

SNV
Germline

Chr7:17335787

Pathogenic

Retinitis pigmentosa 85

No Assertion Criteria Provided

CA366893130

rs_1562481438

1 SubmittersRCV000758221

NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter)

SNV
Germline

Chr6:64230747

Pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364391475

rs_1562263385

2 SubmittersRCV000760151 RCV002533833

NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter)

SNV
Germline

Chr1:197356926

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1311797

rs_778627080

6 SubmittersRCV000760354 RCV001236260 RCV001250592 RCV003453569

NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)

SNV
Germline

Chr1:215634667

Pathogenic

Condition: not provided
Retinal dystrophy
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1392795

rs_758660532

7 SubmittersRCV000760346 RCV001074647 RCV003324534 RCV001825506 RCV003453567

NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)

SNV
Germline

Chr1:215759826

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA37426064

rs_41314534

5 SubmittersRCV000760347 RCV003461016 RCV003453568

NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)

SNV
Germline

Chr1:215888650

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344839280

rs_1301139848

4 SubmittersRCV000760647 RCV004569425 RCV003453570

NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)

SNV
Germline

Chr1:216247101

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344865218

rs_777629750

4 SubmittersRCV000760648 RCV003453571 RCV003453572

NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter)

SNV
Germline

Chr1:94063158

Pathogenic

Condition: not provided
maculopathy
Retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341280062

rs_1557787756

6 SubmittersRCV000760305 RCV001002843 RCV004798864 RCV005029408

NM_001142800.2(EYS):c.2811C>A (p.Cys937Ter)

SNV
Germline

Chr6:64902148

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364785631

rs_1466666397

3 SubmittersRCV000760350 RCV003461017

NM_006269.2(RP1):c.1625C>G (p.Ser542Ter)

SNV
Germline

Chr8:54625507

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA4751409

rs_779334655

4 SubmittersRCV000760408 RCV000988060

NM_001354768.3(NRL):c.544C>T (p.Gln182Ter)

SNV
Germline

Chr14:24081406

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA257868079

rs_901811301

4 SubmittersRCV000760699 RCV001535430

NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter)

SNV
Germline

Chr15:76702873

Pathogenic

Condition: not provided
Intellectual developmental disorder and retinitis pigmentosa
IDDRP

Criteria Provided
Single Submitter

CA393637065

rs_1239725461

3 SubmittersRCV000760910 RCV000984530

NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter)

SNV
Germline

Chr16:1526057

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Autosomal dominant polycystic kidney disease
IFT140-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7813557

rs_144513458

4 SubmittersRCV000760741 RCV002500984 RCV005250107 RCV004753029

NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter)

SNV
Germline

Chr1:215888560

Pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344838904

rs_1558146243

3 SubmittersRCV000760987 RCV002533857

NM_006017.3(PROM1):c.1301+2T>C

SNV
Germline

Chr4:16008947

Pathogenic/Likely pathogenic

Cone-rod dystrophy 12
Cone-rod dystrophy
Condition: not provided
Retinitis pigmentosa 41
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA2866819

rs_775957498

8 SubmittersRCV000761332 RCV001199727 RCV001093373 RCV001592948 RCV004817970

NM_001354768.3(NRL):c.339C>G (p.Tyr113Ter)

SNV
Germline

Chr14:24082510

Pathogenic/Likely pathogenic

Retinitis pigmentosa 27
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA389279547

rs_1566560531

2 SubmittersRCV000761516 RCV002508787

NM_014285.7(EXOSC2):c.673-1G>T

SNV
Germline

Chr9:130703052

Conflicting classifications of pathogenicity

Neurodevelopmental delay
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Criteria Provided
Conflicting Classifications

CA375248180

rs_1465736368

2 SubmittersRCV000761615 RCV003988855

NM_014053.4(FLVCR1):c.971C>A (p.Ser324Ter)

SNV
Germline

Chr1:212872765

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA344791936

rs_1558112968

2 SubmittersRCV000761696 RCV001199817

NM_206933.4(USH2A):c.4949G>C (p.Gly1650Ala)

SNV
Germline

Chr1:216086757

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA344859741

rs_1558251708

2 SubmittersRCV000761700 RCV001199799

NM_206933.4(USH2A):c.4946G>A (p.Gly1649Glu)

SNV
Germline

Chr1:216086760

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA344859766

rs_1558251710

2 SubmittersRCV000761701 RCV001199798

NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg)

SNV
Germline

Chr1:216231993

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
not specified
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA344863142

rs_1171264735

5 SubmittersRCV000761703 RCV001199793 RCV004768631 RCV003461021

NM_206933.4(USH2A):c.2444G>C (p.Cys815Ser)

SNV
Germline

Chr1:216246950

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA344864787

rs_1558341842

2 SubmittersRCV000761705 RCV001199792

NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu)

SNV
Germline

Chr1:94031836

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA341286986

rs_552517556

4 SubmittersRCV000761667 RCV004564474 RCV004800573

NM_001278293.3(ARL6):c.361C>T (p.Arg121Cys)

SNV
Germline

Chr3:97788001

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2505949

rs_202044896

4 SubmittersRCV000762374 RCV001372569 RCV004702398 RCV004817978

NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)

SNV
Germline

Chr6:135394853

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Joubert syndrome 3
Retinitis pigmentosa
Joubert syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA4012186

rs_777215595

10 SubmittersRCV000762434 RCV001073854 RCV001785719 RCV001002862 RCV001237047 RCV004702399

NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)

SNV
Germline

Chr6:63721252

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA3876693

rs_373203896

8 SubmittersRCV000762414 RCV001073470 RCV000787601 RCV002249466

NM_001142800.2(EYS):c.3878-2A>G

SNV
Germline

Chr6:64591991

Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA3877117

rs_752930400

6 SubmittersRCV000762418 RCV001274884 RCV002493393

NM_178857.6(RP1L1):c.3022C>T (p.Gln1008Ter)

SNV
Germline

Chr8:10611076

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 88
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA370289498

rs_756996764

3 SubmittersRCV000762488 RCV001027882 RCV004817982

NM_031885.5(BBS2):c.413T>G (p.Ile138Ser)

SNV
Germline

Chr16:56511217

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA395984421

rs_1386789664

2 SubmittersRCV000761935 RCV001199435

NM_006445.4(PRPF8):c.6966G>T (p.Glu2322Asp)

SNV
Germline

Chr17:1650844

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA397561830

rs_766407266

2 SubmittersRCV000761976 RCV001199517

NM_006445.4(PRPF8):c.6651-3C>A

SNV
Germline

Chr17:1651313

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA913191034

rs_1467838102

2 SubmittersRCV000762192 RCV001199519

NM_015629.4(PRPF31):c.1140C>T (p.Phe380=)

SNV
Germline

Chr19:54128371

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 11
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA883539257

rs_1411083098

5 SubmittersRCV000762038 RCV001002240 RCV001074858

NM_000539.3(RHO):c.53G>A (p.Gly18Asp)

SNV
Germline

Chr3:129528786

Conflicting classifications of pathogenicity

Retinitis pigmentosa 4
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607047

rs_200946638

4 SubmittersRCV000767356 RCV001003166 RCV001366656

NM_000539.3(RHO):c.218A>G (p.Asn73Ser)

SNV
Germline

Chr3:129528951

Pathogenic

Retinitis pigmentosa 4
Retinitis pigmentosa

Criteria Provided
Single Submitter

CA2607089

rs_779169631

2 SubmittersRCV000767359 RCV001199742

NM_000539.3(RHO):c.302G>T (p.Gly101Val)

SNV
Germline

Chr3:129529035

Conflicting classifications of pathogenicity

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA354496798

rs_759945007

2 SubmittersRCV000767360 RCV003558565

NM_000539.3(RHO):c.538C>A (p.Pro180Thr)

SNV
Germline

Chr3:129532258

Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354499098

rs_1560046837

3 SubmittersRCV000767362 RCV005092202

NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys)

SNV
Germline

Chr1:197442284

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Leber congenital amaurosis
not specified
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1312459

rs_137853136

5 SubmittersRCV001201620 RCV001073728 RCV001825517 RCV003323720 RCV005012299

NM_206933.4(USH2A):c.1346G>A (p.Arg449His)

SNV
Germline

Chr1:216323678

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396540

rs_766715882

6 SubmittersRCV000778221 RCV001099202 RCV001049330 RCV003453611 RCV003889976

NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)

SNV
Germline

Chr1:94019665

Conflicting classifications of pathogenicity

ABCA4-related disorder
Retinal dystrophy
Cone-rod dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 1
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

CA957376

rs_771038310

8 SubmittersRCV000779001 RCV001074860 RCV001199620 RCV000994038 RCV002267624 RCV003322616 RCV004760780

NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter)

SNV
Germline

Chr4:47936567

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 49

Criteria Provided
Conflicting Classifications

CA2910997

rs_750954043

4 SubmittersRCV001381268 RCV005432419 RCV005036102

NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter)

SNV
Germline

Chr4:662218

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
PDE6B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2794635

rs_772057239

5 SubmittersRCV001234473 RCV001075255 RCV001724153 RCV004527806

NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)

SNV
Germline

Chr6:10770205

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 62
MAK-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3633368

rs_186643840

5 SubmittersRCV000779484 RCV003768450 RCV004796306 RCV004758729

NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)

SNV
Germline

Chr6:63726641

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA3876734

rs_779983752

7 SubmittersRCV000779514 RCV000791712 RCV001074431 RCV003467306

NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser)

SNV
Germline

Chr6:63806207

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3876819

rs_145184183

4 SubmittersRCV001248752 RCV001830668 RCV003889977

NM_001142800.2(EYS):c.732T>A (p.Cys244Ter)

SNV
Germline

Chr6:65494679

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364789255

rs_1562220891

4 SubmittersRCV000778798 RCV003465708 RCV003688882 RCV004817991

NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter)

SNV
Germline

Chr16:1564105

Pathogenic

Saldino-Mainzer syndrome
IFT140-related disorder
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7814069

rs_770731272

3 SubmittersRCV000779179 RCV003892700 RCV005021163

NM_017739.4(POMGNT1):c.751+1G>A

SNV
Germline

Chr1:46194552

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340183667

rs_1247668825

4 SubmittersRCV002536739 RCV003465709 RCV005021162 RCV005051826

NM_000440.3(PDE6A):c.2275-1G>A

SNV
Germline

Chr5:149866254

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA361688471

rs_1428612396

3 SubmittersRCV001064857 RCV004808875

NM_001297.5(CNGB1):c.534+1G>A

SNV
Germline

Chr16:57960839

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8083788

rs_200862689

2 SubmittersRCV001379338 RCV005012298

NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)

SNV
Germline

Chr1:216321956

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344908034

rs_772624410

4 SubmittersRCV001578969 RCV000785178 RCV002535724

NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter)

SNV
Germline

Chr4:15555146

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA356420587

rs_1560180188

3 SubmittersRCV000785072 RCV001869170 RCV005029441

NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter)

SNV
Germline

Chr4:15989758

Pathogenic

Retinitis pigmentosa 41
Condition: not provided
Retinal dystrophy
Cone-rod dystrophy 12

Criteria Provided
Multiple Submitters
No Conflicts

CA2866537

rs_530749007

7 SubmittersRCV000784975 RCV001093370 RCV003889979 RCV004796310

NM_000539.3(RHO):c.408C>A (p.Tyr136Ter)

SNV
Germline

Chr3:129530922

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA82648518

rs_200248198

3 SubmittersRCV000785958 RCV001052650

NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)

SNV
Germline

Chr1:197427555

Pathogenic/Likely pathogenic

Early-onset retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1312079

rs_150412614

12 SubmittersRCV000786007 RCV001869175 RCV001002994 RCV001075564 RCV001250600 RCV005012306 RCV003453620 RCV003453619

NM_206933.4(USH2A):c.2195G>T (p.Gly732Val)

SNV
Germline

Chr1:216247199

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344865650

rs_1360258103

2 SubmittersRCV000786945 RCV003992391

NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)

SNV
Germline

Chr1:94060739

Likely pathogenic

Cone-rod dystrophy 3
Stargardt disease
Condition: not provided
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341278906

rs_141823837

5 SubmittersRCV000786893 RCV001002840 RCV003768465 RCV005029445 RCV004817995

NM_006343.3(MERTK):c.692G>C (p.Trp231Ser)

SNV
Germline

Chr2:111947502

Likely pathogenic

Retinitis pigmentosa 38

No Assertion Criteria Provided

CA348229185

rs_1573592033

1 SubmittersRCV000786937

NM_000539.3(RHO):c.328T>G (p.Cys110Gly)

SNV
Germline

Chr3:129529061

Likely pathogenic

Retinitis pigmentosa 4

No Assertion Criteria Provided

CA354496913

rs_1578278438

1 SubmittersRCV000786865

NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu)

SNV
Germline

Chr6:64066440

Likely pathogenic

Retinitis pigmentosa 25

No Assertion Criteria Provided

CA364389797

rs_1197105310

1 SubmittersRCV000786936

NM_001142800.2(EYS):c.5243T>A (p.Leu1748Ter)

SNV
Germline

Chr6:64590624

Pathogenic

Retinitis pigmentosa 25

No Assertion Criteria Provided

CA364781526

rs_1582928662

1 SubmittersRCV000786866

NM_014714.4(IFT140):c.3070G>T (p.Glu1024Ter)

SNV
Germline

Chr16:1524623

Pathogenic

Retinitis pigmentosa 80

No Assertion Criteria Provided

CA394225968

rs_777889289

1 SubmittersRCV000786892

NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)

SNV
Germline

Chr1:197421720

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA344032843

rs_1271816211

7 SubmittersRCV001830677 RCV001766622 RCV000787575 RCV000795927 RCV001250596 RCV005012309

NM_201253.3(CRB1):c.3121A>G (p.Met1041Val)

SNV
Germline

Chr1:197434984

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1312280

rs_781705903

4 SubmittersRCV001869189 RCV000787580 RCV003472323 RCV004818003

NM_206933.4(USH2A):c.13948C>T (p.Gln4650Ter)

SNV
Unknown

Chr1:215671157

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344841086

rs_1571945537

1 SubmittersRCV001731926

NM_206933.4(USH2A):c.13274C>A (p.Thr4425Lys)

SNV
Germline

Chr1:215674637

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA344845910

rs_201238640

2 SubmittersRCV000787722 RCV005092357

NM_206933.4(USH2A):c.12161G>T (p.Ser4054Ile)

SNV
Unknown

Chr1:215680282

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344816379

rs_1571953381

1 SubmittersRCV000787720

NM_206933.4(USH2A):c.9370A>G (p.Arg3124Gly)

SNV
Unknown

Chr1:215837992

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344834548

rs_1453306308

1 SubmittersRCV000787743

NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)

SNV
Germline

Chr1:215879068

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Usher syndrome type 2A
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394634

rs_201863550

11 SubmittersRCV000787741 RCV001073611 RCV001004145 RCV001091130 RCV003226391 RCV003453626 RCV005012311

NM_206933.4(USH2A):c.5473G>T (p.Glu1825Ter)

SNV
Unknown

Chr1:216078188

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344856055

rs_1571941589

1 SubmittersRCV000787735

NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys)

SNV
Germline

Chr1:216196658

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA1395796

rs_753908845

2 SubmittersRCV000787730 RCV001370945

NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser)

SNV
Germline

Chr1:216217539

Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344863005

rs_1572060087

2 SubmittersRCV000787728 RCV005012310

NM_206933.4(USH2A):c.1391G>A (p.Arg464His)

SNV
Germline

Chr1:216323633

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396531

rs_771000800

8 SubmittersRCV000787723 RCV001046264 RCV001074359 RCV005021181 RCV003453625

NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter)

SNV
Germline

Chr1:94051673

Likely pathogenic

Retinitis pigmentosa
Cone-rod dystrophy 3

Criteria Provided
Single Submitter

CA341276158

rs_1570382663

2 SubmittersRCV000787488 RCV002466581

NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)

SNV
Germline

Chr2:111929403

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 38
MERTK-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1831017

rs_772421550

5 SubmittersRCV000787624 RCV001074011 RCV001230244 RCV002501026 RCV004756037

NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)

SNV
Germline

Chr2:96293091

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 33
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA52399864

rs_959069360

11 SubmittersRCV000787717 RCV001002103 RCV001042854 RCV003889983

NM_000539.3(RHO):c.265G>C (p.Gly89Arg)

SNV
Unknown

Chr3:129528998

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA354496619

rs_1578278354

1 SubmittersRCV000787678

NM_000539.3(RHO):c.810C>A (p.Ser270Arg)

SNV
Germline

Chr3:129532646

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA354470425

rs_768210562

4 SubmittersRCV001387000 RCV000787684 RCV003889982 RCV001265161

NM_000539.3(RHO):c.934C>T (p.Gln312Ter)

SNV
Germline

Chr3:129532770

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA354471051

rs_1578281136

2 SubmittersRCV000787686 RCV001873211

NM_000539.3(RHO):c.1033G>T (p.Val345Leu)

SNV
Germline

Chr3:129533704

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA354471268

rs_104893795

2 SubmittersRCV000787676 RCV001042727

NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter)

SNV
Germline

Chr4:15980450

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Cone-rod dystrophy 12
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA2866387

rs_766357803

4 SubmittersRCV000787650 RCV001388262 RCV003225955 RCV004818009

NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys)

SNV
Germline

Chr4:626011

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 40
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2793926

rs_749657417

6 SubmittersRCV000787647 RCV001073444 RCV001198798 RCV001873210

NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter)

SNV
Unknown

Chr5:149898483

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA361696313

rs_1581180469

2 SubmittersRCV000787636

NM_000440.3(PDE6A):c.1054C>T (p.Gln352Ter)

SNV
Unknown

Chr5:149907323

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA361698764

rs_1581190641

1 SubmittersRCV000787635

NM_000440.3(PDE6A):c.1A>G (p.Met1Val)

SNV
Germline

Chr5:149944673

Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA361701668

rs_976670244

2 SubmittersRCV000787639 RCV005092355

NM_001242957.3(MAK):c.814C>T (p.Arg272Ter)

SNV
Germline

Chr6:10801909

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 62

Criteria Provided
Multiple Submitters
No Conflicts

CA3633628

rs_753314164

4 SubmittersRCV000787620 RCV001388822 RCV005047046

NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter)

SNV
Germline

Chr6:42704517

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Single Submitter

CA364135378

rs_61755811

3 SubmittersRCV000787667 RCV001530251 RCV004818011

NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)

SNV
Germline

Chr6:63720687

Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA140236783

rs_748838955

6 SubmittersRCV000787603 RCV001227263 RCV001830678

NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)

SNV
Germline

Chr6:63762478

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA140241316

rs_919157306

5 SubmittersRCV000787598 RCV002535753 RCV003467320

NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)

SNV
Germline

Chr6:64912597

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA140380276

rs_74419361

12 SubmittersRCV000787592 RCV001376444 RCV001041783 RCV003889981

NM_001142800.2(EYS):c.873T>A (p.Cys291Ter)

SNV
Unknown

Chr6:65405357

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA364662943

rs_777482895

1 SubmittersRCV000787600

NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val)

SNV
Germline

Chr7:128398526

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA369169078

rs_1584728088

4 SubmittersRCV000787618 RCV001560022 RCV004818005

NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter)

SNV
Unknown

Chr8:54625937

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 1

Criteria Provided
Single Submitter

CA370992628

rs_1250214380

2 SubmittersRCV000787690 RCV002294381

NM_006269.2(RP1):c.2585C>G (p.Ser862Ter)

SNV
Germline

Chr8:54626467

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA370994169

rs_1585563965

2 SubmittersRCV000787692 RCV002535754

NM_006269.2(RP1):c.3688C>T (p.Gln1230Ter)

SNV
Unknown

Chr8:54627570

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA370997059

rs_879399888

1 SubmittersRCV000787695

NM_006269.2(RP1):c.4576G>T (p.Glu1526Ter)

SNV
Germline

Chr8:54628458

Pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Single Submitter

CA370982710

rs_1585567204

2 SubmittersRCV000787696 RCV004794455

NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)

SNV
Germline

Chr14:67725137

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 13
Leber congenital amaurosis
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA262808724

rs_368489658

6 SubmittersRCV000787671 RCV001377219 RCV001830679 RCV005256681 RCV004818012

NM_152443.3(RDH12):c.610A>C (p.Lys204Gln)

SNV
Unknown

Chr14:67727142

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA390151482

rs_1594866237

1 SubmittersRCV000787673

NM_152443.3(RDH12):c.697G>T (p.Val233Phe)

SNV
Germline

Chr14:67729229

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA390152928

rs_140257538

2 SubmittersRCV000787675

NM_015629.4(PRPF31):c.961A>T (p.Lys321Ter)

SNV
Unknown

Chr19:54128088

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA407752870

rs_1600355373

1 SubmittersRCV000787658

NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter)

SNV
Germline

ChrX:38298967

Pathogenic

Retinitis pigmentosa
Retinal dystrophy
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412739725

rs_1601943268

5 SubmittersRCV000787706 RCV001075872 RCV001856213 RCV002464319

NM_001034853.2(RPGR):c.1179T>G (p.Tyr393Ter)

SNV
Unknown

ChrX:38299022

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA412739839

rs_1601943462

1 SubmittersRCV000787705

NM_006915.3(RP2):c.352C>G (p.Arg118Gly)

SNV
Unknown

ChrX:46853725

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA413039365

rs_1556318633

1 SubmittersRCV000787700

NM_006915.3(RP2):c.390T>A (p.Cys130Ter)

SNV
Unknown

ChrX:46853763

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA413039576

rs_1602347792

1 SubmittersRCV000787702

NM_000390.4(CHM):c.3G>A (p.Met1Ile)

SNV
Unknown

ChrX:86047530

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA413788726

rs_1603288875

1 SubmittersRCV000787564

NM_206933.4(USH2A):c.9056-2A>G

SNV
Germline

Chr1:215844498

Pathogenic

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1394412

rs_754970095

8 SubmittersRCV000787742 RCV001091128 RCV001830680 RCV003461062 RCV004818014

NM_006343.3(MERTK):c.757+1G>A

SNV
Unknown

Chr2:111947568

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA348229389

rs_1573592124

1 SubmittersRCV000787625

NM_006343.3(MERTK):c.960+1G>A

SNV
Unknown

Chr2:111968253

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA348232412

rs_1573607809

1 SubmittersRCV000787626

NM_006017.3(PROM1):c.630+2T>A

SNV
Germline

Chr4:16025190

Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Single Submitter

CA356424421

rs_1578097528

2 SubmittersRCV000787651 RCV001075335

NM_000440.3(PDE6A):c.1620+1G>A

SNV
Germline

Chr5:149896355

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3504626

rs_781377291

3 SubmittersRCV000787638 RCV001073345 RCV001229110

NM_000440.3(PDE6A):c.1407+1G>A

SNV
Unknown

Chr5:149898362

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA3504715

rs_781616522

1 SubmittersRCV000787637

NM_000440.3(PDE6A):c.627+2T>G

SNV
Germline

Chr5:149934564

Pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Single Submitter

CA361698139

rs_1581211727

2 SubmittersRCV000787642 RCV004818008

NM_032119.4(ADGRV1):c.4379-1G>A

SNV
Germline

Chr5:90657904

Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA360403420

rs_1432643009

2 SubmittersRCV000787529 RCV001869188

NM_001142800.2(EYS):c.7412-1G>C

SNV
Unknown

Chr6:63789225

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA364386168

rs_1167742176

1 SubmittersRCV000787597

NM_001142800.2(EYS):c.2023+5G>T

SNV
Germline

Chr6:65295858

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA568117506

rs_1287889008

5 SubmittersRCV001592964 RCV000787590 RCV001047358

NM_000883.4(IMPDH1):c.402+1G>T

SNV
Unknown

Chr7:128403705

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA369175877

rs_1562998089

1 SubmittersRCV000787617

NM_006269.2(RP1):c.788-2A>T

SNV
Germline

Chr8:54624668

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA370988573

rs_1422250479

4 SubmittersRCV000787697 RCV001092030

NM_024649.5(BBS1):c.1110+3G>C

SNV
Germline

Chr11:66523885

Pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa
Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA224077259

rs_762276925

3 SubmittersRCV000787532 RCV000787786 RCV005606710

NM_001297.5(CNGB1):c.2166+1G>A

SNV
Unknown

Chr16:57917267

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA396063856

rs_1596976316

1 SubmittersRCV000787567

NM_015629.4(PRPF31):c.421-2A>G

SNV
Germline

Chr19:54123452

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA407750164

rs_1600340117

3 SubmittersRCV000787654 RCV001856212 RCV004818010

NM_015629.4(PRPF31):c.855+1G>T

SNV
Germline

Chr19:54124657

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 11

Criteria Provided
Single Submitter

CA407751570

rs_1057520752

2 SubmittersRCV000787657 RCV005253120

NM_001034853.2(RPGR):c.28+1G>C

SNV
Unknown

ChrX:38327339

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA412746851

rs_62638627

1 SubmittersRCV000787715

NM_001256789.3(CACNA1F):c.818-1G>A

SNV
Unknown

ChrX:49228448

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA412923661

rs_1602653742

1 SubmittersRCV000787556

NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln)

SNV
Unknown

Chr1:197421384

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344031451

rs_1571523755

1 SubmittersRCV000787824

NM_201253.3(CRB1):c.1893T>G (p.Tyr631Ter)

SNV
Unknown

Chr1:197421721

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344032846

rs_1571525390

1 SubmittersRCV000787827

NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe)

SNV
Germline

Chr1:215790231

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1394152

rs_770756678

4 SubmittersRCV000787900 RCV004818026 RCV002535760 RCV003330950

NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr)

SNV
Germline

Chr1:215838016

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394349

rs_140260219

3 SubmittersRCV000787926 RCV001873212 RCV003467322

NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter)

SNV
Germline

Chr1:216251042

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA344866621

rs_1571623023

2 SubmittersRCV000787894 RCV001869195

NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)

SNV
Germline

Chr1:68444800

Pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340748193

rs_1571170561

3 SubmittersRCV000787882 RCV002535759 RCV004595858

NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr)

SNV
Germline

Chr1:94031837

Pathogenic

Condition: not provided
Stargardt disease
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA957733

rs_754899711

3 SubmittersRCV001235117 RCV000787903 RCV005240568

NM_006343.3(MERTK):c.2305A>G (p.Ile769Val)

SNV
Germline

Chr2:112021537

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 38

Criteria Provided
Conflicting Classifications

CA1831793

rs_147899488

5 SubmittersRCV000787914 RCV001055088 RCV005392382

NM_152618.3(BBS12):c.1223A>G (p.Lys408Arg)

SNV
Unknown

Chr4:122743115

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA358224666

rs_1578491064

1 SubmittersRCV000787788

NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys)

SNV
Germline

Chr4:15987683

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356429042

rs_1302809734

3 SubmittersRCV000787917 RCV001075504 RCV001058099

NM_003322.6(TULP1):c.361G>T (p.Glu121Ter)

SNV
Unknown

Chr6:35510999

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA363783402

rs_1581744084

1 SubmittersRCV000787892

NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro)

SNV
Germline

Chr6:42704541

Pathogenic

Retinitis pigmentosa
PRPH2-related disorder
Condition: not provided

Criteria Provided
Single Submitter

CA364135508

rs_1582764878

3 SubmittersRCV000787870 RCV001869193 RCV001530370

NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)

SNV
Germline

Chr6:63762583

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3876753

rs_374714909

6 SubmittersRCV001830681 RCV000787834 RCV001225106

NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg)

SNV
Germline

Chr7:128394552

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 11
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4470775

rs_144498273

7 SubmittersRCV000787840 RCV000878134 RCV001159891 RCV004818020

NM_198428.3(BBS9):c.115A>G (p.Lys39Glu)

SNV
Unknown

Chr7:33152703

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA367190187

rs_1584179629

1 SubmittersRCV000787794

NM_006269.2(RP1):c.3101A>T (p.His1034Leu)

SNV
Germline

Chr8:54626983

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4751641

rs_148296108

5 SubmittersRCV000787878 RCV001204614 RCV004818024

NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)

SNV
Germline

Chr10:71704944

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5544335

rs_560251790

3 SubmittersRCV000787908 RCV002487623 RCV002535761

NM_002905.5(RDH5):c.208C>T (p.Arg70Trp)

SNV
Germline

Chr12:55721392

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Pigmentary retinal dystrophy
Condition: not provided
Retinal dystrophy
Optic atrophy

Criteria Provided
Conflicting Classifications

CA6616768

rs_1058635

4 SubmittersRCV000787875 RCV001198888 RCV001323576 RCV004818022 RCV004818023

NM_000326.5(RLBP1):c.346G>C (p.Gly116Arg)

SNV
Germline

Chr15:89217120

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA7722320

rs_762326108

2 SubmittersRCV000787877 RCV005092358

NM_001793.6(CDH3):c.3G>A (p.Met1Ile)

SNV
Unknown

Chr16:68645382

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA396455055

rs_1238109100

1 SubmittersRCV000787809

NM_001034853.2(RPGR):c.492G>T (p.Trp164Cys)

SNV
Germline

ChrX:38317443

Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
RPGR-related retinopathy

Reviewed By Expert Panel

CA412744921

rs_62638648

3 SubmittersRCV000787884 RCV004818025 RCV005415443

NM_174878.3(CLRN1):c.434-2A>T

SNV
Unknown

Chr3:150928203

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA354953532

rs_1576623563

1 SubmittersRCV000787816

NM_006017.3(PROM1):c.1911+8G>A

SNV
Germline

Chr4:15992240

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Cone-rod dystrophy 12
Stargardt disease 4
Retinal macular dystrophy type 2

Criteria Provided
Conflicting Classifications

CA2866608

rs_370302107

3 SubmittersRCV000787863 RCV000895051 RCV001146547 RCV001146548 RCV001149316

NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter)

SNV
Germline

Chr8:43182180

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Multiple Submitters
No Conflicts

CA4736738

rs_752939204

3 SubmittersRCV003768479 RCV003889987 RCV000791142

NM_174878.3(CLRN1):c.433+1G>A

SNV
Germline

Chr3:150941581

Pathogenic

Condition: not provided
Usher syndrome type 3
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA2666065

rs_201205811

5 SubmittersRCV001387204 RCV000791320 RCV003467324

NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter)

SNV
Germline

Chr1:197427750

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344037279

rs_1571540037

2 SubmittersRCV000801518 RCV005012331

NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)

SNV
Germline

Chr1:197434900

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1312264

rs_143511261

4 SubmittersRCV000817389 RCV001250612 RCV005012366

NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter)

SNV
Germline

Chr1:197477826

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1312569

rs_763324776

4 SubmittersRCV000816727 RCV003446450 RCV003473495 RCV005012364

NM_206933.4(USH2A):c.12854G>A (p.Trp4285Ter)

SNV
Germline

Chr1:215675057

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1393396

rs_766491471

2 SubmittersRCV000814161 RCV005021234

NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter)

SNV
Germline

Chr1:215813799

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394243

rs_760858249

3 SubmittersRCV000820938 RCV001830806 RCV003473510

NM_206933.4(USH2A):c.8584C>T (p.Gln2862Ter)

SNV
Germline

Chr1:215877855

Pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344829827

rs_748863844

3 SubmittersRCV003461113 RCV000799208

NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)

SNV
Germline

Chr1:216078332

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1395468

rs_770329105

7 SubmittersRCV000819794 RCV001276249 RCV002507436 RCV003453722 RCV003889991

NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)

SNV
Germline

Chr1:68431509

Pathogenic

Leber congenital amaurosis 2
Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902254

rs_774130993

9 SubmittersRCV001089892 RCV001593012 RCV000817537 RCV001075233 RCV001830793 RCV005029504 RCV003461248

NM_201548.5(CERKL):c.334C>T (p.Gln112Ter)

SNV
Germline

Chr2:181603984

Pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA2010863

rs_772748858

3 SubmittersRCV000812586 RCV001825629

NM_201548.5(CERKL):c.2T>G (p.Met1Arg)

SNV
Germline

Chr2:181657005

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA349746038

rs_1187991259

3 SubmittersRCV000797385 RCV001002944 RCV001825560

NM_201548.5(CERKL):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:181657005

Pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349746041

rs_1187991259

3 SubmittersRCV000823214 RCV001277038

NM_015662.3(IFT172):c.2015G>A (p.Arg672Gln)

SNV
Germline

Chr2:27463104

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Optic atrophy
IFT172-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1580459

rs_138511988

5 SubmittersRCV000812298 RCV004818046 RCV004549888 RCV004693346

NM_015662.3(IFT172):c.449G>C (p.Gly150Ala)

SNV
Germline

Chr2:27483613

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Inborn genetic diseases
IFT172-related disorder
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA1580981

rs_368343162

4 SubmittersRCV000804395 RCV002537178 RCV004549880 RCV005029476

NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)

SNV
Germline

Chr6:64945794

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 25
EYS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3877294

rs_371032798

11 SubmittersRCV000805595 RCV001073821 RCV001276904 RCV001376318 RCV004751720

NM_001142800.2(EYS):c.1426C>T (p.Gln476Ter)

SNV
Germline

Chr6:65353491

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364661677

rs_1345460401

2 SubmittersRCV000813441 RCV005036196

NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter)

SNV
Germline

Chr8:43146993

Pathogenic/Likely pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Multiple Submitters
No Conflicts

CA371124835

rs_1586698317

2 SubmittersRCV000807281

NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)

SNV
Germline

Chr12:88071859

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Retinitis pigmentosa
Joubert syndrome 1
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA241150716

rs_778030031

6 SubmittersRCV000815985 RCV002495153 RCV003324535 RCV000988881 RCV003467476 RCV004733054

NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)

SNV
Germline

Chr14:67733780

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7238876

rs_200387832

10 SubmittersRCV000811812 RCV000993757 RCV001171676 RCV001074674

NM_206933.4(USH2A):c.6325+1G>A

SNV
Germline

Chr1:216046430

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344858600

rs_1293202153

4 SubmittersRCV000803457 RCV001830736 RCV003461145 RCV005021216

NM_017739.4(POMGNT1):c.652+1G>T

SNV
Germline

Chr1:46194843

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

CA21916937

rs_386834035

6 SubmittersRCV000796490 RCV001508865 RCV001275751 RCV003461088 RCV005029460

NM_201548.5(CERKL):c.1366-1G>A

SNV
Germline

Chr2:181539265

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349733512

rs_1574426870

3 SubmittersRCV000803173 RCV001835968

NM_001378615.1(CC2D2A):c.2625+1G>A

SNV
Germline

Chr4:15555211

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA356420893

rs_1577372471

2 SubmittersRCV000798242 RCV005036152

NM_001142800.2(EYS):c.1766+1G>T

SNV
Germline

Chr6:65334979

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA3877626

rs_776204925

7 SubmittersRCV001830688 RCV000792622 RCV004818032 RCV001260372

NM_001142800.2(EYS):c.7228+1G>A

SNV
Germline

Chr6:63864185

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA140252571

rs_758899480

11 SubmittersRCV000815788 RCV001271841 RCV001376457 RCV004818051

NM_001142800.2(EYS):c.7055+1G>A

SNV
Germline

Chr6:63984382

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA364387295

rs_1582079626

3 SubmittersRCV000817411 RCV001272869

NM_001142800.2(EYS):c.1057-1G>A

SNV
Germline

Chr6:65402606

Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA3877874

rs_776564041

3 SubmittersRCV000818216 RCV001276910 RCV003467486

NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)

SNV
Germline

Chr1:216078157

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1395435

rs_199645514

4 SubmittersRCV000826081 RCV001075373 RCV001858416 RCV003453758 RCV003453757

NM_133642.5(LARGE1):c.2089G>T (p.Val697Leu)

SNV
Germline

Chr22:33274609

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA411542587

rs_1602190224

1 SubmittersRCV000993852

NM_006017.3(PROM1):c.2112C>T (p.Arg704=)

SNV
Germline

Chr4:15987681

Conflicting classifications of pathogenicity

Stargardt disease
Condition: not provided
Retinitis pigmentosa
Stargardt disease 4
Retinal macular dystrophy type 2
Cone-rod dystrophy 12

Criteria Provided
Conflicting Classifications

CA2866506

rs_375358457

3 SubmittersRCV000844932 RCV000908779 RCV001146427 RCV001146424 RCV001146425 RCV001146426

NM_000283.4(PDE6B):c.2140A>T (p.Met714Leu)

SNV
Germline

Chr4:664891

Pathogenic/Likely pathogenic

Retinitis pigmentosa 40
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2794908

rs_751413984

3 SubmittersRCV000845027 RCV001074241 RCV001387025

NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)

SNV
Germline

Chr1:94001919

Pathogenic/Likely pathogenic

Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Retinal dystrophy
Condition: not provided
Cone-rod dystrophy 3
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA956985

rs_367839100

6 SubmittersRCV000850519 RCV001074418 RCV001234782 RCV001262439 RCV004733063

NM_001378615.1(CC2D2A):c.4555T>G (p.Trp1519Gly)

SNV
Germline

Chr4:15599587

Likely pathogenic

Meckel syndrome, type 6
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356433914

rs_1577406415

2 SubmittersRCV001000096 RCV005036236

NM_001164665.2(KIAA1549):c.4686C>A (p.His1562Gln)

SNV
Germline

Chr7:138869627

Pathogenic

Retinitis pigmentosa 86

No Assertion Criteria Provided

CA4505797

rs_776206391

1 SubmittersRCV000852364

NM_004744.5(LRAT):c.611C>T (p.Ala204Val)

SNV
Germline

Chr4:154749054

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 14
Retinitis pigmentosa
Leber congenital amaurosis 14

Criteria Provided
Conflicting Classifications

CA3115915

rs_144754979

4 SubmittersRCV000877819 RCV005392494 RCV003132118

NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg)

SNV
Germline

Chr7:128396955

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Leber congenital amaurosis 11

Criteria Provided
Conflicting Classifications

CA4470928

rs_61751223

6 SubmittersRCV000877808 RCV004818072 RCV001162852 RCV001162853

NM_031885.5(BBS2):c.1470C>T (p.Asp490=)

SNV
Germline

Chr16:56499835

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Conflicting Classifications

CA8065725

rs_370024579

2 SubmittersRCV001469670 RCV005021270

NM_022367.4(SEMA4A):c.20G>A (p.Gly7Asp)

SNV
Germline

Chr1:156154598

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy 10

Criteria Provided
Conflicting Classifications

CA1154880

rs_145133730

2 SubmittersRCV000946503 RCV001097416 RCV001097417

NM_022367.4(SEMA4A):c.1682G>A (p.Arg561His)

SNV
Germline

Chr1:156175645

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy 10

Criteria Provided
Conflicting Classifications

CA1155432

rs_146011929

2 SubmittersRCV000946504 RCV001099382 RCV001099381

NM_201253.3(CRB1):c.2976A>G (p.Ala992=)

SNV
Germline

Chr1:197434839

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312253

rs_200379694

3 SubmittersRCV000951452 RCV001099306 RCV001099308 RCV001099307 RCV001271902

NM_206933.4(USH2A):c.13099G>A (p.Val4367Ile)

SNV
Germline

Chr1:215674812

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
not specified
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393353

rs_146156360

4 SubmittersRCV000953433 RCV001272945 RCV004689937 RCV005392580

NM_000329.3(RPE65):c.942C>T (p.His314=)

SNV
Germline

Chr1:68438998

Conflicting classifications of pathogenicity

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA902340

rs_752875512

3 SubmittersRCV000952170 RCV001102428 RCV001102429 RCV001836036

NM_000541.5(SAG):c.420A>G (p.Pro140=)

SNV
Germline

Chr2:233322990

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Oguchi disease
SAG-related disorder

Criteria Provided
Conflicting Classifications

CA2174362

rs_150046934

3 SubmittersRCV000948639 RCV001140323 RCV001139558 RCV004533633

NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys)

SNV
Germline

Chr2:27445949

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Retinal dystrophy
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579472

rs_186020523

4 SubmittersRCV000952543 RCV003141904 RCV003890109 RCV004553411

NM_015662.3(IFT172):c.4274G>A (p.Gly1425Asp)

SNV
Germline

Chr2:27449331

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579665

rs_139560074

3 SubmittersRCV000945848 RCV002251536 RCV004553381

NM_015662.3(IFT172):c.3921C>T (p.Asn1307=)

SNV
Germline

Chr2:27453414

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1579824

rs_377211687

2 SubmittersRCV000945387 RCV005029541

NM_001029883.3(PCARE):c.3395A>C (p.Glu1132Ala)

SNV
Germline

Chr2:29070867

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1591948

rs_78874550

2 SubmittersRCV001136595 RCV000952490

NM_003322.6(TULP1):c.771G>A (p.Thr257=)

SNV
Germline

Chr6:35509260

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 15
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3772805

rs_189081258

3 SubmittersRCV000952659 RCV001156275 RCV001156276 RCV003890110

NM_000883.4(IMPDH1):c.930C>T (p.Thr310=)

SNV
Germline

Chr7:128398558

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 11
Retinitis pigmentosa
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4470984

rs_150531977

5 SubmittersRCV000951821 RCV001159999 RCV001160000 RCV001700518 RCV003890105

NM_000883.4(IMPDH1):c.189A>G (p.Ser63=)

SNV
Germline

Chr7:128409442

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 11
Retinitis pigmentosa
IMPDH1-related disorder

Criteria Provided
Conflicting Classifications

CA4471256

rs_143796089

4 SubmittersRCV000945885 RCV001165040 RCV001165039 RCV004735905

NM_014336.5(AIPL1):c.33G>C (p.Gly11=)

SNV
Germline

Chr17:6435072

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA8328681

rs_369223841

2 SubmittersRCV000950571 RCV001123502

NM_201253.3(CRB1):c.161G>T (p.Cys54Phe)

SNV
Germline

Chr1:197328512

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Hereditary macular dystrophy
CRB1-related disorder
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1311586

rs_140428156

5 SubmittersRCV001100639 RCV001100909 RCV000964696 RCV001100910 RCV005359704 RCV004543616 RCV005012402

NM_201253.3(CRB1):c.2874C>T (p.Ser958=)

SNV
Germline

Chr1:197434737

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312240

rs_372778560

3 SubmittersRCV001099305 RCV000964760 RCV001097541 RCV001097542 RCV001271900

NM_006343.3(MERTK):c.986A>G (p.Asn329Ser)

SNV
Germline

Chr2:111975314

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 38

Criteria Provided
Conflicting Classifications

CA1831255

rs_34943572

5 SubmittersRCV000964245 RCV001131836 RCV003890123 RCV005392591

NM_201548.5(CERKL):c.102G>T (p.Thr34=)

SNV
Germline

Chr2:181656905

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
not specified
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

CA2010952

rs_149346187

6 SubmittersRCV000963268 RCV001138254 RCV001700953 RCV001271351

NM_000541.5(SAG):c.31G>A (p.Glu11Lys)

SNV
Germline

Chr2:233309220

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Oguchi disease
SAG-related disorder

Criteria Provided
Conflicting Classifications

CA2174177

rs_200078242

5 SubmittersRCV000974177 RCV001140232 RCV001140233 RCV004543637

NM_000541.5(SAG):c.1091C>T (p.Pro364Leu)

SNV
Germline

Chr2:233342315

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa
Oguchi disease

Criteria Provided
Conflicting Classifications

CA2174668

rs_112613526

5 SubmittersRCV000974953 RCV001001987 RCV001140416 RCV001140417

NM_001029883.3(PCARE):c.740T>C (p.Val247Ala)

SNV
Germline

Chr2:29073522

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1592587

rs_77828062

2 SubmittersRCV000961395 RCV001139035

NM_182916.3(TRNT1):c.809C>G (p.Pro270Arg)

SNV
Germline

Chr3:3147456

Conflicting classifications of pathogenicity

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Retinitis pigmentosa and erythrocytic microcytosis
TRNT1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2228805

rs_187921784

4 SubmittersRCV000966690 RCV002066402 RCV004553460 RCV004569820

NM_006017.3(PROM1):c.1751A>G (p.His584Arg)

SNV
Germline

Chr4:15994003

Conflicting classifications of pathogenicity

Condition: not provided
Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA2866653

rs_140027620

3 SubmittersRCV000969187 RCV001150810 RCV001150811 RCV001150812 RCV001150809 RCV004535951

NM_000440.3(PDE6A):c.2249G>A (p.Arg750His)

SNV
Germline

Chr5:149867750

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 43
PDE6A-related disorder

Criteria Provided
Conflicting Classifications

CA3504352

rs_146145709

5 SubmittersRCV000970308 RCV005392598 RCV004740523

NM_000440.3(PDE6A):c.765C>T (p.Ile255=)

SNV
Germline

Chr5:149931121

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3504950

rs_141300510

2 SubmittersRCV000964993 RCV001156436

NM_003322.6(TULP1):c.603G>A (p.Gly201=)

SNV
Germline

Chr6:35509749

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 15
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3772861

rs_117920214

3 SubmittersRCV000960806 RCV001157950 RCV001157949

NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)

SNV
Germline

Chr6:65344041

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3877691

rs_61753611

7 SubmittersRCV000971526 RCV001162939 RCV001000461

NM_002900.3(RBP3):c.2856T>C (p.Tyr952=)

SNV
Germline

Chr10:47351340

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA5487191

rs_370173809

2 SubmittersRCV000963252 RCV001105544

NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)

SNV
Germline

Chr1:68431560

Conflicting classifications of pathogenicity

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related disorder
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA902266

rs_201379753

5 SubmittersRCV000884725 RCV001098673 RCV004530925 RCV001098674 RCV003890011

NM_000541.5(SAG):c.231C>T (p.Asp77=)

SNV
Germline

Chr2:233320679

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Oguchi disease

Criteria Provided
Conflicting Classifications

CA2174310

rs_79922016

2 SubmittersRCV000892539 RCV001137318 RCV001137317

NM_000541.5(SAG):c.374C>T (p.Thr125Met)

SNV
Germline

Chr2:233320822

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 47
Oguchi disease-1
Retinitis pigmentosa 96

Criteria Provided
Conflicting Classifications

CA2174343

rs_137886124

4 SubmittersRCV000893362 RCV001139557 RCV005392516

NM_000541.5(SAG):c.525A>G (p.Arg175=)

SNV
Germline

Chr2:233328490

Conflicting classifications of pathogenicity

Condition: not provided
Oguchi disease
Retinitis pigmentosa
SAG-related disorder

Criteria Provided
Conflicting Classifications

CA2174431

rs_199839554

3 SubmittersRCV000891726 RCV001142169 RCV001142170 RCV004530973

NM_000541.5(SAG):c.588G>A (p.Ala196=)

SNV
Germline

Chr2:233328553

Conflicting classifications of pathogenicity

Condition: not provided
Oguchi disease
Retinitis pigmentosa
not specified
SAG-related disorder

Criteria Provided
Conflicting Classifications

CA2174442

rs_190853693

5 SubmittersRCV000884420 RCV001142171 RCV001142172 RCV001700487 RCV004530924

NM_001029883.3(PCARE):c.2502T>C (p.Pro834=)

SNV
Germline

Chr2:29071760

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Optic atrophy

Criteria Provided
Conflicting Classifications

CA1592189

rs_184644658

5 SubmittersRCV000887335 RCV001136693 RCV003890015 RCV004818074

NM_001201543.2(FAM161A):c.817G>A (p.Glu273Lys)

SNV
Germline

Chr2:61840187

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 28

Criteria Provided
Conflicting Classifications

CA1679270

rs_6733774

3 SubmittersRCV000888451 RCV001138426 RCV001274724

NM_006017.3(PROM1):c.714A>G (p.Gly238=)

SNV
Germline

Chr4:16023396

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinal macular dystrophy type 2
Retinitis pigmentosa
Cone-rod dystrophy 12
Stargardt disease 4
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA2866977

rs_201662148

4 SubmittersRCV000890690 RCV001000892 RCV001147063 RCV001147062 RCV001147060 RCV001147061 RCV004735870

NM_001142800.2(EYS):c.5577C>T (p.Pro1859=)

SNV
Germline

Chr6:64590290

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
EYS-related disorder

Criteria Provided
Conflicting Classifications

CA3877008

rs_747911999

5 SubmittersRCV000894758 RCV001162623 RCV003958016

NM_001142800.2(EYS):c.2598C>T (p.Cys866=)

SNV
Germline

Chr6:64912527

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3877272

rs_183814213

6 SubmittersRCV000882507 RCV001162838 RCV001274985

NM_001142800.2(EYS):c.453T>A (p.Val151=)

SNV
Germline

Chr6:65494958

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3878070

rs_373183802

3 SubmittersRCV000888244 RCV001161513 RCV001279311

NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=)

SNV
Germline

Chr7:128394482

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 11
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA4470760

rs_201803921

4 SubmittersRCV000883210 RCV001164810 RCV001164811 RCV001701347

NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile)

SNV
Germline

Chr8:43191595

Conflicting classifications of pathogenicity

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Inborn genetic diseases
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
HGSNAT-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4736811

rs_200750044

7 SubmittersRCV000892647 RCV004028422 RCV001275632 RCV003890021 RCV003950410 RCV004792572 RCV003994149

NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys)

SNV
Germline

Chr8:43199420

Conflicting classifications of pathogenicity

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Inborn genetic diseases
HGSNAT-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4737022

rs_202128129

6 SubmittersRCV000892648 RCV001275637 RCV002540108 RCV003940720 RCV003994150 RCV004792573

NM_152443.3(RDH12):c.138C>T (p.Gly46=)

SNV
Germline

Chr14:67724542

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Retinitis Pigmentosa, Recessive

Criteria Provided
Conflicting Classifications

CA7238609

rs_140371232

2 SubmittersRCV000884795 RCV001114991

NM_018418.5(SPATA7):c.57G>A (p.Pro19=)

SNV
Germline

Chr14:88391418

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7298358

rs_367830780

3 SubmittersRCV000893008 RCV001117275 RCV003890023

NM_022367.4(SEMA4A):c.861G>T (p.Leu287=)

SNV
Germline

Chr1:156161396

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy 10
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1155206

rs_138398085

3 SubmittersRCV000903037 RCV001099277 RCV001099278 RCV003890036

NM_022367.4(SEMA4A):c.1653C>A (p.Pro551=)

SNV
Germline

Chr1:156175616

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy 10
SEMA4A-related disorder

Criteria Provided
Conflicting Classifications

CA1155425

rs_757466000

3 SubmittersRCV000901729 RCV001097623 RCV001099380 RCV003910760

NM_206933.4(USH2A):c.3780T>C (p.His1260=)

SNV
Germline

Chr1:216199658

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1395925

rs_759937489

4 SubmittersRCV000903592 RCV001097079 RCV001097080

NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)

SNV
Germline

Chr1:26469037

Conflicting classifications of pathogenicity

Retinitis pigmentosa 59
Retinitis pigmentosa
Condition: not provided
not specified
Inborn genetic diseases
Retinal dystrophy
DHDDS-related disorder

Criteria Provided
Conflicting Classifications

CA705486

rs_141852437

8 SubmittersRCV000904699 RCV001099449 RCV001355627 RCV001532941 RCV002540223 RCV003890042 RCV003932889

NM_144631.6(ZNF513):c.1488C>T (p.His496=)

SNV
Germline

Chr2:27377683

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1577794

rs_146066701

2 SubmittersRCV000910023 RCV001142623

NM_144631.6(ZNF513):c.878G>A (p.Arg293Gln)

SNV
Germline

Chr2:27378293

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA1577915

rs_61740138

5 SubmittersRCV000903707 RCV003890040 RCV001137877 RCV001701246

NM_001029883.3(PCARE):c.2617A>G (p.Thr873Ala)

SNV
Germline

Chr2:29071645

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1592157

rs_190462758

2 SubmittersRCV000900177 RCV001143264

NM_001201543.2(FAM161A):c.1391A>G (p.His464Arg)

SNV
Germline

Chr2:61839613

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1679165

rs_201315315

3 SubmittersRCV000906287 RCV001142753 RCV003890047

NM_001201543.2(FAM161A):c.1044T>C (p.Tyr348=)

SNV
Germline

Chr2:61839960

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 28
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1679227

rs_549784796

3 SubmittersRCV000903012 RCV001274722 RCV001138010

NM_016247.4(IMPG2):c.1893G>A (p.Pro631=)

SNV
Germline

Chr3:101244438

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2519073

rs_149291477

2 SubmittersRCV000910359 RCV001145347

NM_016247.4(IMPG2):c.21T>G (p.Phe7Leu)

SNV
Germline

Chr3:101320352

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2519581

rs_193120038

3 SubmittersRCV000895938 RCV001145440 RCV003890027

NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys)

SNV
Germline

Chr4:658964

Conflicting classifications of pathogenicity

PDE6B-related disorder
Condition: not provided
Inborn genetic diseases
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA2794512

rs_143908642

4 SubmittersRCV004530995 RCV000895003 RCV004958238 RCV001151136 RCV001151137

NM_000440.3(PDE6A):c.2526G>A (p.Pro842=)

SNV
Germline

Chr5:149860952

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3504242

rs_376909494

2 SubmittersRCV000909718 RCV001152436

NM_000440.3(PDE6A):c.316G>A (p.Ala106Thr)

SNV
Germline

Chr5:149944358

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
PDE6A-related disorder

Criteria Provided
Conflicting Classifications

CA3505078

rs_200696413

4 SubmittersRCV000903187 RCV001152640 RCV003890038 RCV004740499

NM_000440.3(PDE6A):c.102C>T (p.Ser34=)

SNV
Germline

Chr5:149944572

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3505146

rs_140009042

2 SubmittersRCV000910366 RCV001154774

NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val)

SNV
Germline

Chr6:64081892

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
EYS-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3876905

rs_148019592

7 SubmittersRCV000906578 RCV001164565 RCV001272975 RCV003958237 RCV004973157

NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp)

SNV
Germline

Chr6:64590238

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3877002

rs_139822086

5 SubmittersRCV000898699 RCV001161047 RCV001272983

NM_001142800.2(EYS):c.4264A>T (p.Thr1422Ser)

SNV
Germline

Chr6:64591603

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3877094

rs_200318120

5 SubmittersRCV000898700 RCV001161169 RCV001274979 RCV002540173

NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)

SNV
Germline

Chr6:64617516

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3877145

rs_374409854

7 SubmittersRCV000896805 RCV001563745 RCV001164783 RCV003890028

NM_001142800.2(EYS):c.1107C>T (p.Ser369=)

SNV
Germline

Chr6:65402555

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA3877865

rs_755023434

6 SubmittersRCV000899198 RCV001158306 RCV001729740

NM_001142800.2(EYS):c.788A>G (p.His263Arg)

SNV
Germline

Chr6:65490668

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25
Inborn genetic diseases
EYS-related disorder

Criteria Provided
Conflicting Classifications

CA3877985

rs_139517572

6 SubmittersRCV000908170 RCV001075365 RCV001277022 RCV002540772 RCV003977946

NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=)

SNV
Germline

Chr7:128394488

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11

Criteria Provided
Conflicting Classifications

CA4470762

rs_139785999

2 SubmittersRCV000904634 RCV001164813 RCV001164812

NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)

SNV
Germline

Chr8:43170692

Conflicting classifications of pathogenicity

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

CA4736598

rs_775663094

3 SubmittersRCV000901175 RCV001159325

NM_002900.3(RBP3):c.120C>T (p.Cys40=)

SNV
Germline

Chr10:47348604

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA5487861

rs_373417235

3 SubmittersRCV000896345 RCV001107520 RCV005436281

NM_199355.4(ADAMTS18):c.3157C>T (p.Arg1053Trp)

SNV
Germline

Chr16:77293108

Conflicting classifications of pathogenicity

Condition: not provided
Microcornea-myopic chorioretinal atrophy
ADAMTS18-related disorder
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA8180601

rs_148703569

7 SubmittersRCV000899321 RCV003141892 RCV003910717 RCV001593127

NM_000717.5(CA4):c.699C>T (p.Val233=)

SNV
Germline

Chr17:60158401

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA501126093

rs_764759588

2 SubmittersRCV000902968 RCV001127368

NM_001378615.1(CC2D2A):c.2182-9G>A

SNV
Germline

Chr4:15550815

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA2863861

rs_376312792

3 SubmittersRCV000896097 RCV005029526

NM_022367.4(SEMA4A):c.2249A>T (p.Asp750Val)

SNV
Germline

Chr1:156176960

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy 10
SEMA4A-related disorder

Criteria Provided
Conflicting Classifications

CA1155560

rs_141707567

3 SubmittersRCV000923293 RCV001097714 RCV001097715 RCV003970508

NM_000329.3(RPE65):c.783G>T (p.Leu261=)

SNV
Germline

Chr1:68439266

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA902396

rs_188493184

4 SubmittersRCV000922726 RCV001098759 RCV001098760 RCV001275284 RCV003890070

NM_201548.5(CERKL):c.540A>G (p.Lys180=)

SNV
Germline

Chr2:181573826

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 26
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2010786

rs_149505471

3 SubmittersRCV000927269 RCV001271346 RCV001142999

NM_144631.6(ZNF513):c.748C>T (p.Arg250Trp)

SNV
Germline

Chr2:27378518

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 58

Criteria Provided
Conflicting Classifications

CA1577980

rs_200255167

2 SubmittersRCV000923317 RCV005392551

NM_001029883.3(PCARE):c.3626A>G (p.Asp1209Gly)

SNV
Germline

Chr2:29070636

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1591876

rs_572724183

2 SubmittersRCV000915749 RCV001143153

NM_000440.3(PDE6A):c.2238T>G (p.Gly746=)

SNV
Germline

Chr5:149867761

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3504357

rs_145809648

3 SubmittersRCV000912740 RCV001153714

NM_001142800.2(EYS):c.7609G>A (p.Ala2537Thr)

SNV
Germline

Chr6:63788219

Conflicting classifications of pathogenicity

Condition: not provided
EYS-related disorder
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3876792

rs_189406424

5 SubmittersRCV000920814 RCV004751820 RCV003890067 RCV004796334

NM_001142800.2(EYS):c.6912G>A (p.Gly2304=)

SNV
Germline

Chr6:63984526

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA140266918

rs_745961740

2 SubmittersRCV000918023 RCV001162535

NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp)

SNV
Germline

Chr8:43196978

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

CA4736917

rs_200238482

2 SubmittersRCV000923388 RCV001160693

NM_006269.2(RP1):c.141A>G (p.Gln47=)

SNV
Germline

Chr8:54621107

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA4751089

rs_372249141

2 SubmittersRCV000913898 RCV001158393

NM_006269.2(RP1):c.4932A>G (p.Pro1644=)

SNV
Germline

Chr8:54628814

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA4751972

rs_111445591

2 SubmittersRCV000926464 RCV001158611

NM_005802.5(TOPORS):c.1938A>C (p.Ser646=)

SNV
Germline

Chr9:32542587

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA5020443

rs_376719585

2 SubmittersRCV000924997 RCV001165482

NM_001102564.3(IFT43):c.468C>T (p.Leu156=)

SNV
Germline

Chr14:76083250

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 18 with polydactyly
Retinitis pigmentosa 81
Cranioectodermal dysplasia 3

Criteria Provided
Conflicting Classifications

CA7280914

rs_563086463

2 SubmittersRCV000926281 RCV005004467

NM_014249.4(NR2E3):c.843C>T (p.Pro281=)

SNV
Germline

Chr15:71813484

Conflicting classifications of pathogenicity

Condition: not provided
Enhanced S-cone syndrome
Goldmann-Favre syndrome
Retinitis pigmentosa 37
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7640409

rs_555211505

4 SubmittersRCV000916154 RCV001119924 RCV001275381 RCV001119923 RCV003890063

NM_000329.3(RPE65):c.1338+8A>G

SNV
Germline

Chr1:68431274

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA902206

rs_777211540

2 SubmittersRCV000912094 RCV001102319 RCV001102320

NM_000329.3(RPE65):c.95-10T>A

SNV
Germline

Chr1:68446870

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Leber congenital amaurosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA902601

rs_547374432

4 SubmittersRCV000926497 RCV001100688 RCV001100687 RCV001729747

NM_001142800.2(EYS):c.748+6A>T

SNV
Germline

Chr6:65494657

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3878023

rs_373742788

3 SubmittersRCV000912955 RCV001075554 RCV001832059

NM_152419.3(HGSNAT):c.851+10C>T

SNV
Germline

Chr8:43173753

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Conflicting Classifications

CA4736655

rs_778394235

3 SubmittersRCV001159326 RCV001400192

NM_000717.5(CA4):c.58+10C>G

SNV
Germline

Chr17:60150102

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
CA4-related disorder

Criteria Provided
Conflicting Classifications

CA8685181

rs_756230727

3 SubmittersRCV000912215 RCV001124279 RCV003902904

NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)

SNV
Germline

Chr1:68431085

Pathogenic/Likely pathogenic

Retinitis pigmentosa 87 with choroidal involvement
RPE65-related disorder
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy
Retinitis pigmentosa 20
Neurodevelopmental disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340741778

rs_1571158279

7 SubmittersRCV000927801 RCV001034696 RCV001068036 RCV001074701 RCV001376263 RCV002279647 RCV003117646

NM_206933.4(USH2A):c.9906C>T (p.Asn3302=)

SNV
Germline

Chr1:215798959

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1394184

rs_757439664

4 SubmittersRCV000928362 RCV001276954 RCV001330643

NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys)

SNV
Germline

Chr1:215888503

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1394676

rs_531822235

5 SubmittersRCV000940905 RCV001073932 RCV001276971 RCV001578965

NM_000329.3(RPE65):c.375A>G (p.Gly125=)

SNV
Germline

Chr1:68444651

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA902518

rs_992113946

4 SubmittersRCV000933065 RCV001097115 RCV001097116 RCV001275287 RCV003890087

NM_201548.5(CERKL):c.97T>G (p.Leu33Val)

SNV
Germline

Chr2:181656910

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

CA2010954

rs_554167374

3 SubmittersRCV000942689 RCV001138255 RCV001271352

NM_001029883.3(PCARE):c.3527A>G (p.Gln1176Arg)

SNV
Germline

Chr2:29070735

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1591906

rs_182812191

3 SubmittersRCV000929335 RCV001136591 RCV003890082

NM_006017.3(PROM1):c.1279T>C (p.Leu427=)

SNV
Germline

Chr4:16008971

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Condition: not provided
Cone-rod dystrophy 12

Criteria Provided
Conflicting Classifications

CA2866822

rs_200710798

2 SubmittersRCV001144915 RCV001144917 RCV001144916 RCV000935482 RCV001146867

NM_000283.4(PDE6B):c.1779C>T (p.Ala593=)

SNV
Germline

Chr4:662565

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA2794678

rs_769147926

2 SubmittersRCV000936533 RCV001155048 RCV001155049

NM_001142800.2(EYS):c.6822C>A (p.Ser2274=)

SNV
Germline

Chr6:63999087

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA140268544

rs_1055095941

2 SubmittersRCV000940795 RCV001164564

NM_001142800.2(EYS):c.5935T>C (p.Leu1979=)

SNV
Germline

Chr6:64388833

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA140315877

rs_962496239

3 SubmittersRCV000930618 RCV001159656 RCV001826949

NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe)

SNV
Germline

Chr6:64590267

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3877007

rs_542339299

3 SubmittersRCV000938677 RCV001162622 RCV001280443

NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn)

SNV
Germline

Chr6:64590634

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3877032

rs_145274061

3 SubmittersRCV000940680 RCV001274973 RCV001073827

NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr)

SNV
Germline

Chr6:65353535

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Retinal dystrophy
EYS-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3877771

rs_76754818

8 SubmittersRCV000942122 RCV001162943 RCV001277017 RCV003890096 RCV003903137 RCV005432503

NM_001142800.2(EYS):c.716C>T (p.Ala239Val)

SNV
Germline

Chr6:65494695

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
EYS-related disorder

Criteria Provided
Conflicting Classifications

CA3878028

rs_150140204

4 SubmittersRCV000933075 RCV001161508 RCV004751826

NM_001142800.2(EYS):c.586A>C (p.Lys196Gln)

SNV
Germline

Chr6:65494825

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3878053

rs_749038401

5 SubmittersRCV000943591 RCV002222648 RCV005392570 RCV003890098

NM_000327.4(ROM1):c.1035G>A (p.Lys345=)

SNV
Germline

Chr11:62614818

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA6049907

rs_144650228

2 SubmittersRCV000938816 RCV001103857

NM_014249.4(NR2E3):c.645C>T (p.Cys215=)

SNV
Germline

Chr15:71812409

Conflicting classifications of pathogenicity

Condition: not provided
Optic atrophy
Enhanced S-cone syndrome
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7640362

rs_375133059

4 SubmittersRCV000927870 RCV004818081 RCV001118390 RCV001118391

NM_206933.4(USH2A):c.6958-8A>T

SNV
Germline

Chr1:215965487

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1394982

rs_769264662

2 SubmittersRCV000930222 RCV001376386

NM_201253.3(CRB1):c.3878+9C>T

SNV
Germline

Chr1:197438684

Conflicting classifications of pathogenicity

Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA915941980

rs_1571564812

2 SubmittersRCV001199229 RCV001466667

NM_003322.6(TULP1):c.823-4A>G

SNV
Germline

Chr6:35506283

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 15
not specified

Criteria Provided
Conflicting Classifications

CA3772784

rs_200264819

3 SubmittersRCV000945772 RCV001152398 RCV001152399 RCV001000630

NM_018418.5(SPATA7):c.19+7G>A

SNV
Germline

Chr14:88385844

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7298310

rs_199560035

2 SubmittersRCV000945395 RCV001117274

NM_177965.4(CFAP418):c.155+8G>A

SNV
Germline

Chr8:95269027

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy 16

Criteria Provided
Conflicting Classifications

CA4815252

rs_377262548

2 SubmittersRCV000971378 RCV001169698 RCV001169699

NM_014249.4(NR2E3):c.349+7C>T

SNV
Germline

Chr15:71811876

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Enhanced S-cone syndrome
NR2E3-related disorder
Retinitis pigmentosa 37

Criteria Provided
Conflicting Classifications

CA7640288

rs_900547

4 SubmittersRCV000969301 RCV001116841 RCV001827055 RCV004543626 RCV001116840

NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly)

SNV
Germline

Chr3:97788082

Conflicting classifications of pathogenicity

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Condition: not provided
ARL6-related disorder

Criteria Provided
Conflicting Classifications

CA2505958

rs_148745414

3 SubmittersRCV000981691 RCV003141905 RCV003972988

NM_203288.2(RP9):c.632C>G (p.Ser211Cys)

SNV
Germline

Chr7:33095268

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA4213682

rs_201702563

3 SubmittersRCV000979291 RCV001162970 RCV004030018

NM_006269.2(RP1):c.5257T>C (p.Leu1753=)

SNV
Germline

Chr8:54629139

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA4752027

rs_199808222

2 SubmittersRCV000979395 RCV001161830

NM_000717.5(CA4):c.753A>T (p.Ala251=)

SNV
Germline

Chr17:60159238

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA8685528

rs_140515828

2 SubmittersRCV000977342 RCV001127370

NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter)

SNV
Germline

Chr8:54627278

Pathogenic

Retinitis pigmentosa 1
Autosomal recessive retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Single Submitter

CA4751683

rs_561075447

3 SubmittersRCV000985170 RCV001257794 RCV004794467

NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter)

SNV
Germline

Chr15:76705971

Pathogenic

Intellectual developmental disorder and retinitis pigmentosa
IDDRP

Criteria Provided
Single Submitter

CA393637538

rs_978336151

2 SubmittersRCV000984524

NM_020843.4(SCAPER):c.829C>T (p.Arg277Ter)

SNV
Germline

Chr15:76775061

Likely pathogenic

Intellectual developmental disorder and retinitis pigmentosa
IDDRP

No Assertion Criteria Provided

CA393640894

rs_1484749107

1 SubmittersRCV000984528

NM_020843.4(SCAPER):c.2166-3C>G

SNV
Germline

Chr15:76705987

Likely pathogenic

Intellectual developmental disorder and retinitis pigmentosa
IDDRP

No Assertion Criteria Provided

CA915946080

rs_1598279469

2 SubmittersRCV000984531

NM_020843.4(SCAPER):c.1495+1G>A

SNV
Germline

Chr15:76765562

Likely pathogenic

Intellectual developmental disorder and retinitis pigmentosa
IDDRP

No Assertion Criteria Provided

CA393638131

rs_1598598205

1 SubmittersRCV000984526

NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)

SNV
Germline

Chr1:197347475

Pathogenic

Leber congenital amaurosis 1
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344084273

rs_1571878277

4 SubmittersRCV000986486 RCV001858643 RCV003454996 RCV003454997 RCV005001126

NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)

SNV
Germline

Chr1:197421141

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
not specified

Criteria Provided
Conflicting Classifications

CA344030332

rs_1571522690

5 SubmittersRCV000986487 RCV001759677 RCV003454998 RCV003454999 RCV003455000 RCV005012407 RCV004586998

NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)

SNV
Germline

Chr1:197421461

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA344031791

rs_1571524102

2 SubmittersRCV000986489 RCV001339131

NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)

SNV
Germline

Chr1:197435516

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA344050247

rs_1450635782

5 SubmittersRCV000986496 RCV001858644 RCV001824163 RCV001726405 RCV003331014

NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)

SNV
Germline

Chr1:197442248

Likely pathogenic

Leber congenital amaurosis 1
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344052628

rs_62635649

7 SubmittersRCV000986497 RCV001809876 RCV003455006 RCV002489456 RCV003455005 RCV003769294

NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)

SNV
Germline

Chr1:215628953

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1392688

rs_201513512

7 SubmittersRCV000986514 RCV001041834 RCV001074615 RCV001328877 RCV005012408

NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile)

SNV
Germline

Chr1:215786672

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA344839529

rs_1416602859

6 SubmittersRCV000986523 RCV001247865 RCV003473529 RCV004586999 RCV005012409

NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)

SNV
Germline

Chr1:215888717

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344839425

rs_1571783742

10 SubmittersRCV000986528 RCV001381632 RCV001075207 RCV003455007 RCV002503145 RCV003324539

NM_206933.4(USH2A):c.2809+1G>A

SNV
Germline

Chr1:216246584

Pathogenic

Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396162

rs_759433119

5 SubmittersRCV000986541 RCV001075468 RCV001858646 RCV003230611 RCV003446564

NM_206933.4(USH2A):c.1547G>T (p.Gly516Val)

SNV
Germline

Chr1:216323477

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344909398

rs_1415484067

5 SubmittersRCV000986548 RCV001869337 RCV003467540 RCV005418945

NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)

SNV
Germline

Chr1:216325597

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
not specified
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1396655

rs_762869685

5 SubmittersRCV000986551 RCV001075391 RCV001307771 RCV002265917 RCV005012411

NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr)

SNV
Germline

Chr1:68431471

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA340742798

rs_1571158755

2 SubmittersRCV000986327 RCV001858636

NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)

SNV
Germline

Chr1:68440936

Pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
RPE65-related disorder
Leber congenital amaurosis
Retinitis pigmentosa
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902468

rs_752058510

7 SubmittersRCV000986330 RCV001219364 RCV001585895 RCV002255100 RCV003324538 RCV003324537 RCV003769292

NM_006343.3(MERTK):c.1296+1G>C

SNV
Unknown

Chr2:111982994

Pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348235964

rs_774577413

1 SubmittersRCV000986796

NM_006343.3(MERTK):c.2303C>T (p.Ala768Val)

SNV
Unknown

Chr2:112021535

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA1831792

rs_778383770

1 SubmittersRCV000986797

NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys)

SNV
Germline

Chr2:112028394

Pathogenic

Retinitis pigmentosa 38
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1831920

rs_746291728

5 SubmittersRCV000986798 RCV001389819 RCV004818093

NM_201548.5(CERKL):c.356G>A (p.Gly119Asp)

SNV
Germline

Chr2:181603962

Pathogenic/Likely pathogenic

Retinitis pigmentosa 26
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA61602220

rs_1003615909

6 SubmittersRCV000986951 RCV001203143 RCV005432512

NM_014014.5(SNRNP200):c.1405A>G (p.Lys469Glu)

SNV
Germline

Chr2:96297043

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA52401837

rs_933842186

2 SubmittersRCV000986791 RCV001858653

NM_000539.3(RHO):c.45T>G (p.Asn15Lys)

SNV
Germline

Chr3:129528778

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354495338

rs_1578278088

3 SubmittersRCV000987328 RCV001858663

NM_000539.3(RHO):c.317G>T (p.Gly106Val)

SNV
Unknown

Chr3:129529050

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

CA354496869

rs_1578278417

1 SubmittersRCV000987329

NM_000539.3(RHO):c.557C>G (p.Ser186Trp)

SNV
Unknown

Chr3:129532277

Pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

CA354499220

rs_371288618

1 SubmittersRCV000987331

NM_000539.3(RHO):c.937-2A>T

SNV
Germline

Chr3:129533606

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354471062

rs_1578281565

3 SubmittersRCV000987332 RCV004818094 RCV004726755

NM_000539.3(RHO):c.1034T>C (p.Val345Ala)

SNV
Germline

Chr3:129533705

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354471270

rs_1578281706

2 SubmittersRCV000987333 RCV001378537

NM_006017.3(PROM1):c.1984-1G>T

SNV
Germline

Chr4:15989825

Pathogenic

Retinitis pigmentosa 41
Condition: not provided
Stargardt disease
PROM1-related disorder
Cone-rod dystrophy
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2866549

rs_373680665

6 SubmittersRCV000987420 RCV001049161 RCV002467454 RCV004536013 RCV003324540 RCV003324541

NM_006017.3(PROM1):c.784+1G>A

SNV
Germline

Chr4:16023325

Pathogenic/Likely pathogenic

Retinitis pigmentosa 41
Condition: not provided
Retinal dystrophy
Stargardt disease
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2866962

rs_745704627

5 SubmittersRCV000987424 RCV001047807 RCV001075553 RCV002466264 RCV003324543

NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)

SNV
Germline

Chr4:16024337

Pathogenic/Likely pathogenic

Retinitis pigmentosa 41
Cone-rod dystrophy 12
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2867009

rs_374017889

4 SubmittersRCV000987425 RCV001198630 RCV001383311

NM_001379270.1(CNGA1):c.546-1G>C

SNV
Germline

Chr4:47940870

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA96692027

rs_1037963003

2 SubmittersRCV000987445 RCV001858667

NM_000283.4(PDE6B):c.2021+2T>G

SNV
Germline

Chr4:663872

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA355918672

rs_1577301589

2 SubmittersRCV000987386 RCV002549679

NM_000283.4(PDE6B):c.2442T>A (p.Tyr814Ter)

SNV
Germline

Chr4:667945

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA355920570

rs_1577311264

2 SubmittersRCV000987388 RCV001869344

NM_000440.3(PDE6A):c.1674C>G (p.Tyr558Ter)

SNV
Unknown

Chr5:149895237

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA361695149

rs_375659222

1 SubmittersRCV000987615

NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)

SNV
Germline

Chr6:35506071

Pathogenic/Likely pathogenic

Leber congenital amaurosis 1
Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis 15
Retinitis pigmentosa 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA363780231

rs_373519519

5 SubmittersRCV000987688 RCV001301120 RCV001809877 RCV004796336 RCV005432513

NM_001142800.2(EYS):c.8590G>T (p.Gly2864Ter)

SNV
Germline

Chr6:63721441

Pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364384417

rs_1582140331

2 SubmittersRCV000987721 RCV001858675

NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter)

SNV
Germline

Chr6:63789064

Pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA140244030

rs_902462590

2 SubmittersRCV000987722 RCV001869348

NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter)

SNV
Germline

Chr6:64590417

Pathogenic

Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA140340871

rs_983691310

3 SubmittersRCV000987724 RCV001003021 RCV001055116

NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)

SNV
Germline

Chr6:64591216

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364782851

rs_1305702728

4 SubmittersRCV000987727 RCV001382289

NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter)

SNV
Germline

Chr6:64591747

Pathogenic

Retinitis pigmentosa 25
Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA140340971

rs_928803207

7 SubmittersRCV000987728 RCV001062996 RCV001274881 RCV003226411

NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter)

SNV
Germline

Chr6:64902211

Pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364785772

rs_1391928253

2 SubmittersRCV000987731 RCV002549684

NM_006269.2(RP1):c.2778T>A (p.Tyr926Ter)

SNV
Unknown

Chr8:54626660

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA370994606

rs_1585564369

1 SubmittersRCV000988061

NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)

SNV
Germline

Chr12:88139522

Conflicting classifications of pathogenicity

Joubert syndrome 1
Retinal dystrophy
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
not specified
Retinitis pigmentosa
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

CA6712876

rs_779010679

6 SubmittersRCV000988892 RCV001075119 RCV001210117 RCV003317407 RCV003324546 RCV005012415

NM_001297.5(CNGB1):c.1958-1G>A

SNV
Germline

Chr16:57917477

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA281600136

rs_888090139

6 SubmittersRCV000989611 RCV001858711 RCV001073842 RCV002250710

NM_001297.5(CNGB1):c.1122-2A>T

SNV
Unknown

Chr16:57940323

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA396073816

rs_1596997875

1 SubmittersRCV000989612

NM_006445.4(PRPF8):c.6991G>A (p.Glu2331Lys)

SNV
Germline

Chr17:1650819

Conflicting classifications of pathogenicity

Retinitis pigmentosa 13
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA397561739

rs_1597223220

2 SubmittersRCV000989678 RCV003890147

NM_015629.4(PRPF31):c.3G>A (p.Met1Ile)

SNV
Unknown

Chr19:54118281

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA407788933

rs_1600324262

1 SubmittersRCV000991048

NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter)

SNV
Germline

Chr19:54118443

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA407790058

rs_1439576531

2 SubmittersRCV000991050 RCV001858731

NM_015629.4(PRPF31):c.322+1G>A

SNV
Unknown

Chr19:54121944

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA407749527

rs_1600335289

1 SubmittersRCV000991051

NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter)

SNV
Germline

Chr19:54123794

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA407750528

rs_764232082

3 SubmittersRCV000991055 RCV001075718

NM_015629.4(PRPF31):c.856-1G>A

SNV
Unknown

Chr19:54126527

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA407751772

rs_1600350656

1 SubmittersRCV000991056

NM_001034853.2(RPGR):c.2185G>T (p.Glu729Ter)

SNV
Unknown

ChrX:38286814

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA412731241

rs_1601923813

1 SubmittersRCV000990773

NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter)

SNV
Germline

ChrX:38286976

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA412731677

rs_1601924184

2 SubmittersRCV000990774

NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr)

SNV
Germline

ChrX:38310644

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412742575

rs_1601961064

2 SubmittersRCV000990777 RCV002549752

NM_001034853.2(RPGR):c.310G>T (p.Glu104Ter)

SNV
Unknown

ChrX:38321027

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA412745348

rs_1601978823

1 SubmittersRCV000990780

NM_001034853.2(RPGR):c.280T>C (p.Cys94Arg)

SNV
Unknown

ChrX:38321057

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA412745411

rs_1601978925

1 SubmittersRCV000990781

NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp)

SNV
Germline

ChrX:38322906

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA412745614

rs_1601982532

2 SubmittersRCV001387577 RCV000990782

NM_006915.3(RP2):c.884-14G>A

SNV
Germline

ChrX:46877491

Conflicting classifications of pathogenicity

Retinitis pigmentosa 3
Retinal dystrophy
Retinitis pigmentosa 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA915951032

rs_1602354996

4 SubmittersRCV000990805 RCV001074033 RCV001593168 RCV002550621

NM_015629.4(PRPF31):c.239-2A>G

SNV
Germline

Chr19:54121858

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA407749015

rs_1600334904

3 SubmittersRCV000991310 RCV001543581

NM_206933.4(USH2A):c.12344G>A (p.Arg4115His)

SNV
Germline

Chr1:215675567

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393486

rs_775075094

4 SubmittersRCV000993537 RCV001827140 RCV002481758

NM_004698.4(PRPF3):c.1283-2A>G

SNV
Germline

Chr1:150343307

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA342279239

rs_1572263399

3 SubmittersRCV000994094 RCV001199730 RCV003890149

NM_022367.4(SEMA4A):c.302T>C (p.Ile101Thr)

SNV
Germline

Chr1:156158071

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 10
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1154994

rs_149652495

5 SubmittersRCV000994139 RCV001097513 RCV001074915 RCV001097512

NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr)

SNV
Germline

Chr1:197429459

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
not specified
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA344040380

rs_1571544334

6 SubmittersRCV000994218 RCV001199673 RCV003769329 RCV004800653 RCV003455016

NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala)

SNV
Germline

Chr1:212887929

Conflicting classifications of pathogenicity

Condition: not provided
Posterior column ataxia-retinitis pigmentosa syndrome

Criteria Provided
Conflicting Classifications

CA1386097

rs_775587493

3 SubmittersRCV000994239 RCV001170035

NM_206933.4(USH2A):c.13484G>A (p.Arg4495His)

SNV
Germline

Chr1:215674427

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
USH2A-related disorder
Usher syndrome type 2A
Retinitis pigmentosa 39
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1393282

rs_550096037

8 SubmittersRCV000994244 RCV001074070 RCV004544995 RCV001827144 RCV003455025 RCV005512860

NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val)

SNV
Germline

Chr1:216073279

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA344854951

rs_760543320

3 SubmittersRCV000994249 RCV001199800 RCV004818111

NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys)

SNV
Germline

Chr1:216323493

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Conflicting Classifications

CA1396497

rs_767209934

5 SubmittersRCV000994252 RCV005012427 RCV003467553 RCV004587003

NM_006343.3(MERTK):c.1296+1G>A

SNV
Germline

Chr2:111982994

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 38
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA1831320

rs_774577413

4 SubmittersRCV000997192 RCV002249605 RCV001724205

NM_014014.5(SNRNP200):c.3859C>T (p.Arg1287Trp)

SNV
Germline

Chr2:96286455

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA52394290

rs_1004264460

2 SubmittersRCV000997184 RCV001199783

NM_014014.5(SNRNP200):c.583A>G (p.Ile195Val)

SNV
Germline

Chr2:96301045

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA347687580

rs_1574001405

2 SubmittersRCV000997186 RCV001199555

NM_006017.3(PROM1):c.1142-1G>A

SNV
Germline

Chr4:16009109

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease 4
Retinitis pigmentosa 41
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinal dystrophy
Retinal macular dystrophy type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA2866849

rs_752619497

7 SubmittersRCV000998228 RCV002497313 RCV001352977 RCV001075075 RCV003987756

NM_006017.3(PROM1):c.677C>T (p.Ala226Val)

SNV
Germline

Chr4:16024312

Conflicting classifications of pathogenicity

Condition: not provided
Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2867002

rs_376198840

3 SubmittersRCV000998230 RCV001149511 RCV001147961 RCV001147962 RCV001147963

NM_000440.3(PDE6A):c.1610T>C (p.Ile537Thr)

SNV
Germline

Chr5:149896366

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA361695293

rs_1581177868

2 SubmittersRCV000998466 RCV001199493

NM_000440.3(PDE6A):c.743T>A (p.Val248Asp)

SNV
Germline

Chr5:149931143

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA361696623

rs_1581209421

2 SubmittersRCV000998467 RCV001199498

NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)

SNV
Germline

Chr6:63778093

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA140242860

rs_368798160

11 SubmittersRCV001832315 RCV000998641 RCV001075538 RCV005432523

NM_006269.2(RP1):c.188T>C (p.Phe63Ser)

SNV
Germline

Chr8:54621154

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA177234288

rs_369919266

3 SubmittersRCV000999035 RCV001199745

NM_001354768.3(NRL):c.375C>G (p.His125Gln)

SNV
Germline

Chr14:24082474

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7122869

rs_201970559

3 SubmittersRCV000995161 RCV001112200

NM_001102564.3(IFT43):c.16G>C (p.Asp6His)

SNV
Germline

Chr14:75985802

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Cranioectodermal dysplasia 3
Short-rib thoracic dysplasia 18 with polydactyly
Retinitis pigmentosa 81
not specified

Criteria Provided
Conflicting Classifications

CA7280570

rs_201966792

6 SubmittersRCV000995218 RCV002279688 RCV002481772 RCV004629399

NM_015629.4(PRPF31):c.1275G>T (p.Gln425His)

SNV
Germline

Chr19:54129185

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA407754977

rs_1600360827

2 SubmittersRCV000997011 RCV001199733

NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter)

SNV
Germline

ChrX:38285626

Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
RPGR-related retinopathy

Reviewed By Expert Panel

CA412726773

rs_1601917052

4 SubmittersRCV000999390 RCV001199554 RCV003890153 RCV005415459

NM_001034853.2(RPGR):c.2410A>T (p.Arg804Ter)

SNV
Germline

ChrX:38286589

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA412730705

rs_1601922877

2 SubmittersRCV000999393 RCV001199538

NM_004523.4(KIF11):c.381G>A (p.Trp127Ter)

SNV
Germline

Chr10:92607231

Pathogenic/Likely pathogenic

Syndromic retinitis pigmentosa
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

No Assertion Criteria Provided

CA377589054

rs_1589590737

2 SubmittersRCV001003069 RCV001030780

NM_006343.3(MERTK):c.1450+2T>G

SNV
Germline

Chr2:111994406

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348230147

rs_1573627154

1 SubmittersRCV001002387

NM_006343.3(MERTK):c.2162A>C (p.His721Pro)

SNV
Germline

Chr2:112019495

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348236872

rs_778005207

1 SubmittersRCV001001044

NM_000539.3(RHO):c.563G>A (p.Gly188Glu)

SNV
Germline

Chr3:129532283

Pathogenic/Likely pathogenic

not specified
Condition: not provided
Retinitis pigmentosa 4
RHO-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA354499271

rs_1424131846

5 SubmittersRCV001001281 RCV001041691 RCV001265198 RCV004756151

NM_000539.3(RHO):c.1021G>A (p.Glu341Lys)

SNV
Germline

Chr3:129533692

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 4
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2607365

rs_142322202

6 SubmittersRCV001002602 RCV001213688 RCV001265168 RCV001073614

NM_006269.2(RP1):c.1380G>C (p.Lys460Asn)

SNV
Germline

Chr8:54625262

Conflicting classifications of pathogenicity

Retinitis pigmentosa 1
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4751367

rs_143494598

5 SubmittersRCV001000795 RCV001163128 RCV001301603 RCV004818131

NM_001297.5(CNGB1):c.2958C>T (p.Asn986=)

SNV
Germline

Chr16:57901370

Conflicting classifications of pathogenicity

Retinitis pigmentosa 45
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8082754

rs_543509332

4 SubmittersRCV001000399 RCV001121638 RCV001425605 RCV005540230

NM_004698.4(PRPF3):c.1285G>T (p.Asp429Tyr)

SNV
Germline

Chr1:150343311

Pathogenic

Retinitis pigmentosa 18

Criteria Provided
Single Submitter

CA342279287

rs_1572263404

1 SubmittersRCV001002720

NM_001142800.2(EYS):c.8816G>C (p.Cys2939Ser)

SNV
Germline

Chr6:63721215

Pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364383910

rs_1582139965

1 SubmittersRCV001002721

NM_201253.3(CRB1):c.424G>T (p.Gly142Ter)

SNV
Germline

Chr1:197328775

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344085740

rs_1571848659

1 SubmittersRCV001002987

NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)

SNV
Germline

Chr1:197328806

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344085812

rs_1571848744

4 SubmittersRCV001002988 RCV003455044 RCV003455043 RCV001074569 RCV001377780

NM_201253.3(CRB1):c.1667T>C (p.Leu556Pro)

SNV
Germline

Chr1:197421495

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344031947

rs_1571524269

1 SubmittersRCV001002991

NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)

SNV
Germline

Chr1:197421561

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA344032344

rs_1266363944

3 SubmittersRCV001002992 RCV002549196 RCV001376464

NM_201253.3(CRB1):c.1844G>T (p.Gly615Val)

SNV
Germline

Chr1:197421672

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344032742

rs_768905244

5 SubmittersRCV001002993 RCV001593178 RCV001860526 RCV003455046 RCV003455045

NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp)

SNV
Germline

Chr1:197427823

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344037805

rs_1571540258

5 SubmittersRCV001002995 RCV001250627 RCV001862718 RCV004818139

NM_201253.3(CRB1):c.3991C>G (p.Arg1331Gly)

SNV
Germline

Chr1:197442278

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344052699

rs_760544654

1 SubmittersRCV001002999

NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys)

SNV
Germline

Chr1:215648760

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1393037

rs_746837034

6 SubmittersRCV001003252 RCV001240871 RCV001836060 RCV003461305 RCV005021312

NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn)

SNV
Germline

Chr1:215782049

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344836082

rs_1571681377

1 SubmittersRCV001003261

NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn)

SNV
Germline

Chr1:215817148

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344825241

rs_1571715796

1 SubmittersRCV001003264

NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala)

SNV
Germline

Chr1:216217458

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA344862823

rs_768158580

1 SubmittersRCV001003276

NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)

SNV
Germline

Chr1:216247098

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
USH2A-related disorder
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396250

rs_368687374

12 SubmittersRCV001003278 RCV001040831 RCV002489511 RCV003226415 RCV004733108 RCV001073915 RCV001832324 RCV003455049

NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp)

SNV
Germline

Chr1:26442842

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 59
Developmental delay and seizures with or without movement abnormalities
Retinitis pigmentosa 59
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA705285

rs_754564043

5 SubmittersRCV001003005 RCV001862719 RCV002481804 RCV003890158 RCV004768773

NM_000329.3(RPE65):c.722A>T (p.His241Leu)

SNV
Germline

Chr1:68439564

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA340745914

rs_1557600322

1 SubmittersRCV001003187

NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter)

SNV
Germline

Chr2:29070973

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 54

Criteria Provided
Multiple Submitters
No Conflicts

CA1591972

rs_369937337

5 SubmittersRCV001002900 RCV001205031 RCV005394617

NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter)

SNV
Germline

Chr2:29071312

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1592076

rs_774215025

3 SubmittersRCV001002901 RCV001860523 RCV004818136

NM_001201543.2(FAM161A):c.1751G>A (p.Arg584Lys)

SNV
Germline

Chr2:61838538

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA346985844

rs_1572875669

1 SubmittersRCV001003030

NM_014014.5(SNRNP200):c.2042G>T (p.Arg681Leu)

SNV
Germline

Chr2:96293090

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA347679554

rs_527236113

1 SubmittersRCV001003225

NM_000539.3(RHO):c.497C>T (p.Ala166Val)

SNV
Germline

Chr3:129531011

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA354498630

rs_1578279746

1 SubmittersRCV001003168

NM_000539.3(RHO):c.560G>A (p.Cys187Tyr)

SNV
Germline

Chr3:129532280

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA354499244

rs_1578280588

3 SubmittersRCV001003171 RCV001229176 RCV001265196

NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter)

SNV
Germline

Chr3:189984566

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Myopia, high, with cataract and vitreoretinal degeneration
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2753027

rs_377600857

6 SubmittersRCV001003107 RCV001809893 RCV002549200

NM_144499.3(GNAT1):c.460G>T (p.Asp154Tyr)

SNV
Germline

Chr3:50193763

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA352915979

rs_1293620319

1 SubmittersRCV001003036

NM_001379270.1(CNGA1):c.1619T>G (p.Phe540Cys)

SNV
Germline

Chr4:47936863

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA356824868

rs_1578059695

1 SubmittersRCV001002952

NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg)

SNV
Germline

Chr4:47937438

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356827357

rs_759079269

3 SubmittersRCV001002953 RCV001322243

NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter)

SNV
Germline

Chr5:149884546

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 43

Criteria Provided
Single Submitter

CA361693348

rs_1581166539

2 SubmittersRCV001003111 RCV002272384

NM_003322.6(TULP1):c.1301G>A (p.Arg434Lys)

SNV
Germline

Chr6:35503581

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA363779070

rs_1581738478

1 SubmittersRCV001003240

NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys)

SNV
Germline

Chr6:35505806

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA3772701

rs_763272975

6 SubmittersRCV001003241 RCV001073990 RCV001093078 RCV005047188

NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp)

SNV
Germline

Chr6:42698409

Conflicting classifications of pathogenicity

Retinitis pigmentosa
PRPH2-related disorder
Retinal dystrophy
Condition: not provided
Pigmentary retinal dystrophy
Retinitis pigmentosa 7
Patterned macular dystrophy 1
Choroidal dystrophy, central areolar 2
Vitelliform macular dystrophy 3

Criteria Provided
Conflicting Classifications

CA3808480

rs_759011231

6 SubmittersRCV001003136 RCV001860530 RCV004818142 RCV001530337 RCV005394618

NM_000322.5(PRPH2):c.594C>G (p.Ser198Arg)

SNV
Germline

Chr6:42704599

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

No Assertion Criteria Provided

CA364135819

rs_375978676

2 SubmittersRCV001003145 RCV001530230

NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)

SNV
Germline

Chr6:42721817

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 7
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364137383

rs_61755794

4 SubmittersRCV001003146 RCV001530227 RCV002250712 RCV001379736

NM_001142800.2(EYS):c.9329G>C (p.Gly3110Ala)

SNV
Germline

Chr6:63720702

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA364382729

rs_1582139184

1 SubmittersRCV001003009

NM_001142800.2(EYS):c.8167C>T (p.Gln2723Ter)

SNV
Germline

Chr6:63726585

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA364386012

rs_1168129071

1 SubmittersRCV001003014

NM_001142800.2(EYS):c.3715G>T (p.Glu1239Ter)

SNV
Germline

Chr6:64593279

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA364784885

rs_1582932583

1 SubmittersRCV001003023

NM_000883.4(IMPDH1):c.959T>C (p.Leu320Pro)

SNV
Germline

Chr7:128398529

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA369169111

rs_1584728115

1 SubmittersRCV001003054

NM_006269.2(RP1):c.688G>T (p.Gly230Ter)

SNV
Germline

Chr8:54622189

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA370988015

rs_1585559122

2 SubmittersRCV001003177

NM_006269.2(RP1):c.2167G>T (p.Gly723Ter)

SNV
Germline

Chr8:54626049

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA370992882

rs_1585563283

4 SubmittersRCV001003178 RCV001073530 RCV001380425

NM_033100.4(CDHR1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr10:84194761

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA377369066

rs_794726954

1 SubmittersRCV001002928

NM_020366.4(RPGRIP1):c.2249A>G (p.Tyr750Cys)

SNV
Germline

Chr14:21325265

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA388868454

rs_1594214013

1 SubmittersRCV001003209

NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter)

SNV
Germline

Chr14:21328463

Pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

CA388870957

rs_1371805993

2 SubmittersRCV001003210 RCV001862727

NM_152443.3(RDH12):c.821T>C (p.Leu274Pro)

SNV
Germline

Chr14:67729353

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA390153397

rs_1594867597

2 SubmittersRCV001003158 RCV001597241

NM_014249.4(NR2E3):c.352G>A (p.Val118Met)

SNV
Germline

Chr15:71811957

Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Enhanced S-cone syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393033791

rs_776270511

3 SubmittersRCV001003094 RCV001379647 RCV003461304

NM_014249.4(NR2E3):c.1038G>C (p.Gln346His)

SNV
Germline

Chr15:71814055

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA393039290

rs_1595957521

1 SubmittersRCV001003096

NM_005530.3(IDH3A):c.911C>A (p.Pro304His)

SNV
Germline

Chr15:78166196

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 90
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7680716

rs_756712426

4 SubmittersRCV001003050 RCV001255141 RCV001862722

NM_005530.3(IDH3A):c.938T>C (p.Met313Thr)

SNV
Germline

Chr15:78166223

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 90
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7680723

rs_149862950

6 SubmittersRCV001003051 RCV001255142 RCV001498042

NM_001297.5(CNGB1):c.2629G>A (p.Gly877Arg)

SNV
Germline

Chr16:57904739

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8082911

rs_200963831

3 SubmittersRCV001002973 RCV001225374 RCV001075433

NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys)

SNV
Germline

Chr16:57912979

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA396061674

rs_1286857064

4 SubmittersRCV001002974 RCV001326652 RCV003331019 RCV004818138

NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys)

SNV
Germline

Chr16:57915269

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA281598163

rs_1028371920

6 SubmittersRCV001002975 RCV001039446 RCV002497323

NM_014003.4(DHX38):c.2329C>T (p.Pro777Ser)

SNV
Germline

Chr16:72105298

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA396712070

rs_1597445687

1 SubmittersRCV001003006

NM_020964.3(EPG5):c.3447G>A (p.Trp1149Ter)

SNV
Germline

Chr18:45916144

Pathogenic

Syndromic retinitis pigmentosa

No Assertion Criteria Provided

CA402342536

rs_886276412

1 SubmittersRCV001003007

NM_020964.3(EPG5):c.2609C>G (p.Ser870Cys)

SNV
Germline

Chr18:45925847

Likely pathogenic

Syndromic retinitis pigmentosa

No Assertion Criteria Provided

CA402345998

rs_1479239564

1 SubmittersRCV001003008

NM_015629.4(PRPF31):c.1108G>T (p.Glu370Ter)

SNV
Germline

Chr19:54128339

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA407753800

rs_1184467860

2 SubmittersRCV001003132 RCV003769394

NM_001034853.2(RPGR):c.2272G>T (p.Glu758Ter)

SNV
Germline

ChrX:38286727

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA412731032

rs_1601923388

1 SubmittersRCV001003196

NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter)

SNV
Germline

ChrX:38286826

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412731273

rs_907856232

3 SubmittersRCV001003198 RCV003329357 RCV002549203

NM_001034853.2(RPGR):c.1334C>G (p.Ser445Ter)

SNV
Germline

ChrX:38297364

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA412739508

rs_1601940608

1 SubmittersRCV001003200

NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg)

SNV
Germline

ChrX:38317343

Pathogenic

Retinitis pigmentosa
Primary ciliary dyskinesia
Retinitis pigmentosa 3

Criteria Provided
Single Submitter

CA412744489

rs_1601972255

3 SubmittersRCV001003204 RCV002549204 RCV001251549

NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp)

SNV
Germline

ChrX:38317441

Pathogenic

Retinitis pigmentosa
X-linked cone-rod dystrophy 1
RPGR-related retinopathy

Reviewed By Expert Panel

CA412744917

rs_1601972449

3 SubmittersRCV001003205 RCV001809894 RCV005415460

NM_001034853.2(RPGR):c.259G>T (p.Glu87Ter)

SNV
Germline

ChrX:38321078

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA412745458

rs_1601978991

1 SubmittersRCV001003206

NM_201253.3(CRB1):c.4005+1G>A

SNV
Germline

Chr1:197442293

Pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA35913902

rs_890453675

7 SubmittersRCV001003000 RCV001250622 RCV002549197 RCV004818140 RCV005012435

NM_201548.5(CERKL):c.238+1G>A

SNV
Germline

Chr2:181656768

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 26
Autosomal recessive retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA349744188

rs_1276597208

8 SubmittersRCV001002943 RCV001034731 RCV001832323 RCV001257879

NM_000283.4(PDE6B):c.1921-9C>G

SNV
Germline

Chr4:663761

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA915943001

rs_1577301137

3 SubmittersRCV001003116 RCV001208611 RCV004818141

NM_000440.3(PDE6A):c.2506+1G>A

SNV
Germline

Chr5:149863118

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA361708804

rs_1561671507

1 SubmittersRCV001003109

NM_015072.5(TTLL5):c.2136+1G>A

SNV
Germline

Chr14:75771855

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA390468772

rs_1595009158

1 SubmittersRCV001003237

NM_012106.4(ARL2BP):c.38+2T>G

SNV
Germline

Chr16:57245407

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA396023938

rs_1597951232

1 SubmittersRCV001002869

NM_015629.4(PRPF31):c.697+1G>A

SNV
Germline

Chr19:54123919

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA407750965

rs_1600342050

1 SubmittersRCV001003131

NM_004928.3(CFAP410):c.643-1G>C

SNV
Germline

Chr21:44330327

Pathogenic

Retinitis pigmentosa
Axial spondylometaphyseal dysplasia

Criteria Provided
Single Submitter

CA410448626

rs_1602071514

2 SubmittersRCV001002897 RCV002236069

NM_001034853.2(RPGR):c.1572+1G>A

SNV
Germline

ChrX:38290958

Pathogenic

Retinitis pigmentosa
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412737551

rs_1601931052

2 SubmittersRCV001003199 RCV002551700

NM_006915.3(RP2):c.102+1G>T

SNV
Germline

ChrX:46837203

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA413038398

rs_1602342663

1 SubmittersRCV001003182

NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)

SNV
Germline

Chr20:3916946

Conflicting classifications of pathogenicity

Dystonic disorder
Pigmentary pallidal degeneration
Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9750867

rs_559623184

7 SubmittersRCV001003627 RCV001138967 RCV002479198 RCV001772184

NM_004698.4(PRPF3):c.1496A>C (p.His499Pro)

SNV
Germline

Chr1:150344231

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342282375

rs_1658062720

2 SubmittersRCV001199729 RCV005093038

NM_201253.3(CRB1):c.1171+2T>G

SNV
Germline

Chr1:197357015

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA344084691

rs_1660519681

1 SubmittersRCV001199679

NM_201253.3(CRB1):c.3934T>A (p.Cys1312Ser)

SNV
Germline

Chr1:197442221

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA344052563

rs_771257822

1 SubmittersRCV001199676

NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)

SNV
Germline

Chr1:215647552

Pathogenic/Likely pathogenic

Usher syndrome type 2
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344830880

rs_754834155

5 SubmittersRCV001199585 RCV001376437 RCV003455052 RCV005012436

NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter)

SNV
Germline

Chr1:215647663

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37389247

rs_948087886

3 SubmittersRCV001381927 RCV001199787 RCV003455058

NM_206933.4(USH2A):c.13804T>C (p.Phe4602Leu)

SNV
Germline

Chr1:215674107

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA1393218

rs_755099565

1 SubmittersRCV001199577

NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val)

SNV
Germline

Chr1:215674628

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA344845869

rs_1234273599

2 SubmittersRCV001199576 RCV003317411

NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)

SNV
Germline

Chr1:215675056

Pathogenic

Usher syndrome type 2
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344848689

rs_1657965422

2 SubmittersRCV001199583 RCV003467566

NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly)

SNV
Germline

Chr1:215675493

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA344850970

rs_1657992030

1 SubmittersRCV001199574

NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe)

SNV
Germline

Chr1:215741387

Pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Single Submitter

CA344833148

rs_1386612395

2 SubmittersRCV001199572 RCV004818159

NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu)

SNV
Germline

Chr1:215741426

Pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Single Submitter

CA344833438

rs_1660298900

2 SubmittersRCV001199571 RCV004818158

NM_206933.4(USH2A):c.11129G>A (p.Gly3710Asp)

SNV
Germline

Chr1:215759762

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA1393811

rs_764113446

1 SubmittersRCV001199570

NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val)

SNV
Germline

Chr1:215782061

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344836178

rs_1259758261

3 SubmittersRCV001199568 RCV003455050 RCV001862731

NM_206933.4(USH2A):c.8782G>T (p.Gly2928Ter)

SNV
Germline

Chr1:215867070

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA344851250

rs_1664490756

1 SubmittersRCV001199808

NM_206933.4(USH2A):c.7040T>A (p.Val2347Glu)

SNV
Germline

Chr1:215965397

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA344852213

rs_1667316070

1 SubmittersRCV001199806

NM_206933.4(USH2A):c.6835G>T (p.Asp2279Tyr)

SNV
Germline

Chr1:215970747

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA344854599

rs_1421761057

1 SubmittersRCV001199805

NM_206933.4(USH2A):c.4628-2A>G

SNV
Germline

Chr1:216097215

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344861486

rs_2032462132

3 SubmittersRCV001199580 RCV001064231 RCV003446587

NM_206933.4(USH2A):c.3812-2A>G

SNV
Germline

Chr1:216198586

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395894

rs_758733024

5 SubmittersRCV001092378 RCV001199581 RCV003446588

NM_206933.4(USH2A):c.3692G>A (p.Ser1231Asn)

SNV
Germline

Chr1:216199746

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1395939

rs_747578300

2 SubmittersRCV001199795 RCV002549233

NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser)

SNV
Germline

Chr1:216250990

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344866383

rs_2036149054

2 SubmittersRCV001199790 RCV003558634

NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)

SNV
Germline

Chr1:68429927

Pathogenic

Leber congenital amaurosis
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA902151

rs_62653015

4 SubmittersRCV001199757 RCV004527406 RCV003769401

NM_000350.3(ABCA4):c.4848+2T>A

SNV
Germline

Chr1:94021638

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341283544

rs_1659900155

3 SubmittersRCV001091943 RCV001199630 RCV004818164

NM_006343.3(MERTK):c.2507G>A (p.Cys836Tyr)

SNV
Germline

Chr2:112028371

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348242212

rs_1677512620

2 SubmittersRCV001199706 RCV005243446

NM_201548.5(CERKL):c.950G>A (p.Arg317His)

SNV
Germline

Chr2:181548803

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2010604

rs_150587104

4 SubmittersRCV001141153 RCV001805969 RCV002549229

NM_000541.5(SAG):c.1103-2A>C

SNV
Germline

Chr2:233346401

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2174684

rs_748204331

2 SubmittersRCV001199779 RCV001860549

NM_014014.5(SNRNP200):c.5654A>G (p.Asn1885Ser)

SNV
Germline

Chr2:96277907

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347658697

rs_1295558388

2 SubmittersRCV001199784 RCV001860550

NM_014014.5(SNRNP200):c.1462C>T (p.Leu488Phe)

SNV
Germline

Chr2:96296986

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347682671

rs_771467567

2 SubmittersRCV001199782 RCV002549232

NM_016247.4(IMPG2):c.501+5G>A

SNV
Germline

Chr3:101304141

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA545050654

rs_1404077542

2 SubmittersRCV001074072 RCV001199486

NM_000539.3(RHO):c.1032G>C (p.Gln344His)

SNV
Germline

Chr3:129533703

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA354471266

rs_749753555

5 SubmittersRCV001073659 RCV001199741 RCV001724208

NM_176824.3(BBS7):c.790G>A (p.Gly264Arg)

SNV
Germline

Chr4:121853015

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Inborn genetic diseases
Bardet-Biedl syndrome 7

Criteria Provided
Conflicting Classifications

CA104766063

rs_932897330

3 SubmittersRCV001199440 RCV002549226 RCV004577952

NM_001379270.1(CNGA1):c.1142G>C (p.Gly381Ala)

SNV
Germline

Chr4:47937340

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2911124

rs_749990018

2 SubmittersRCV001199459 RCV002551708

NM_001379270.1(CNGA1):c.1121T>C (p.Val374Ala)

SNV
Germline

Chr4:47937361

Conflicting classifications of pathogenicity

Retinitis pigmentosa 49
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2911129

rs_765792753

3 SubmittersRCV001376522 RCV001199458 RCV002551707

NM_001379270.1(CNGA1):c.1093C>A (p.Pro365Thr)

SNV
Germline

Chr4:47937389

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA356827120

rs_867483436

1 SubmittersRCV001199457

NM_000283.4(PDE6B):c.1390C>T (p.Gln464Ter)

SNV
Germline

Chr4:657483

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 40

Criteria Provided
Single Submitter

CA355914406

rs_1736425011

1 SubmittersRCV001199501 RCV001293400

NM_000283.4(PDE6B):c.1401+2T>G

SNV
Germline

Chr4:657496

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 40

Criteria Provided
Single Submitter

CA355914529

rs_1736426982

1 SubmittersRCV001199508 RCV001293401

NM_000283.4(PDE6B):c.1744T>C (p.Tyr582His)

SNV
Germline

Chr4:662530

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 40

Criteria Provided
Single Submitter

CA355917282

rs_1737229618

1 SubmittersRCV001199502 RCV001293403

NM_000283.4(PDE6B):c.1879C>G (p.Arg627Gly)

SNV
Germline

Chr4:663146

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2794740

rs_371911345

3 SubmittersRCV001199504 RCV001322860 RCV002549228

NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly)

SNV
Germline

Chr4:663852

Pathogenic/Likely pathogenic

Retinitis pigmentosa 40
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA355918566

rs_1737442897

2 SubmittersRCV001293404 RCV001199505 RCV004818147

NM_000440.3(PDE6A):c.38T>A (p.Leu13Gln)

SNV
Germline

Chr5:149944636

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA361701584

rs_1754418004

1 SubmittersRCV001199497

NM_003322.6(TULP1):c.1523G>A (p.Arg508His)

SNV
Germline

Chr6:35498433

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA363778343

rs_1768754157

2 SubmittersRCV001199562 RCV001860544

NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter)

SNV
Germline

Chr6:42704540

Pathogenic/Likely pathogenic

Condition: not provided
Patterned dystrophy of the retinal pigment epithelium
Retinal dystrophy
Retinitis pigmentosa
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364135499

rs_986748364

7 SubmittersRCV001093085 RCV001250377 RCV001073873 RCV001199523 RCV001202274

NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)

SNV
Germline

Chr6:63864186

Conflicting classifications of pathogenicity

Central areolar choroidal dystrophy
Condition: not provided
not specified
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA140252572

rs_915505702

4 SubmittersRCV001199689 RCV001229450 RCV003317412 RCV001832325

NM_001142800.2(EYS):c.6174T>G (p.Tyr2058Ter)

SNV
Germline

Chr6:64306987

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364391699

rs_1769471082

3 SubmittersRCV001199686 RCV001268164

NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter)

SNV
Germline

Chr6:64590454

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364781164

rs_1766367970

3 SubmittersRCV001199684 RCV002275181 RCV004818165

NM_001142800.2(EYS):c.3243+1G>A

SNV
Germline

Chr6:64821644

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364787124

rs_1300490966

9 SubmittersRCV001199810 RCV001862733 RCV001832326 RCV003890163

NM_001142800.2(EYS):c.749-1G>C

SNV
Germline

Chr6:65490708

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 25
EYS-related retinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA3877991

rs_368159852

7 SubmittersRCV001035502 RCV001199690 RCV001074982 RCV002505535 RCV005359740

NM_000883.4(IMPDH1):c.255-2A>G

SNV
Germline

Chr7:128405867

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA369178796

rs_1238921380

2 SubmittersRCV001199478 RCV001306605

NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro)

SNV
Germline

Chr7:128409831

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 11

Criteria Provided
Conflicting Classifications

CA166138005

rs_946898300

3 SubmittersRCV001158326 RCV001305635 RCV001158325

NM_006269.2(RP1):c.615+1G>A

SNV
Germline

Chr8:54621582

Pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA177234589

rs_886210482

2 SubmittersRCV001199751 RCV004794472

NM_006269.2(RP1):c.2113A>T (p.Lys705Ter)

SNV
Germline

Chr8:54625995

Pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA370992758

rs_1806033844

2 SubmittersRCV001199747 RCV004818168

NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter)

SNV
Germline

Chr8:99121218

Pathogenic

Retinitis pigmentosa
Cohen syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371860842

rs_1205613982

3 SubmittersRCV001199600 RCV001860546

NM_152564.5(VPS13B):c.8037C>G (p.Tyr2679Ter)

SNV
Germline

Chr8:99809470

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA371769973

rs_777019428

1 SubmittersRCV001199599

NM_002900.3(RBP3):c.467G>C (p.Trp156Ser)

SNV
Germline

Chr10:47348951

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA376665116

rs_1555210929

1 SubmittersRCV001199531

NM_002900.3(RBP3):c.3050T>A (p.Met1017Lys)

SNV
Germline

Chr10:47351534

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA376676155

rs_1836974640

1 SubmittersRCV001199530

NM_024649.5(BBS1):c.1608+1G>A

SNV
Germline

Chr11:66531029

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381425686

rs_1856758582

3 SubmittersRCV001199431 RCV002481807

NM_025114.4(CEP290):c.4029+1G>A

SNV
Germline

Chr12:88089031

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA385999953

rs_2036808766

2 SubmittersRCV001199654 RCV002275200

NM_152443.3(RDH12):c.599A>C (p.Tyr200Ser)

SNV
Germline

Chr14:67727131

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA390151427

rs_1163040913

1 SubmittersRCV001199532

NM_015072.5(TTLL5):c.630C>A (p.Tyr210Ter)

SNV
Germline

Chr14:75707062

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA390456708

rs_745934202

5 SubmittersRCV001074576 RCV001092316 RCV001199559

NM_014249.4(NR2E3):c.406G>T (p.Glu136Ter)

SNV
Germline

Chr15:71812011

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA393034103

rs_1257334132

4 SubmittersRCV001091351 RCV001073492 RCV001199716

NM_014249.4(NR2E3):c.563C>G (p.Pro188Arg)

SNV
Germline

Chr15:71812168

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA393034961

rs_2054189787

2 SubmittersRCV001199487 RCV004818146

NM_014249.4(NR2E3):c.994G>C (p.Glu332Gln)

SNV
Germline

Chr15:71813635

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA393038155

rs_2054205040

2 SubmittersRCV001199488 RCV001091352

NM_006445.4(PRPF8):c.6377G>A (p.Gly2126Glu)

SNV
Germline

Chr17:1651781

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA397565622

rs_1360391558

2 SubmittersRCV001071854 RCV001199516

NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys)

SNV
Germline

Chr17:1655534

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA397569805

rs_1911322255

3 SubmittersRCV001199515 RCV004818151

NM_001077620.3(PRCD):c.73C>A (p.Pro25Thr)

SNV
Germline

Chr17:76540214

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA401181042

rs_2074970792

1 SubmittersRCV001199722

NM_015629.4(PRPF31):c.178-2A>G

SNV
Germline

Chr19:54118571

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA407790275

rs_2073708638

2 SubmittersRCV001199512 RCV005056743

NM_015629.4(PRPF31):c.539C>A (p.Ser180Ter)

SNV
Germline

Chr19:54123760

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA407750458

rs_1411470197

1 SubmittersRCV001199738

NM_015629.4(PRPF31):c.1074-2A>G

SNV
Germline

Chr19:54128303

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA407753561

rs_1314226094

3 SubmittersRCV001199514 RCV002279705 RCV004818150

NM_015629.4(PRPF31):c.1141G>T (p.Gly381Ter)

SNV
Germline

Chr19:54128372

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA407754036

rs_2073971805

1 SubmittersRCV001199732

NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter)

SNV
Germline

ChrX:38285950

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412729128

rs_2067127275

4 SubmittersRCV001090910 RCV001199551 RCV004818154

NM_001034853.2(RPGR):c.2461G>T (p.Glu821Ter)

SNV
Germline

ChrX:38286538

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA412730586

rs_2067180233

1 SubmittersRCV001199541

NM_001034853.2(RPGR):c.2123A>G (p.Glu708Gly)

SNV
Germline

ChrX:38286876

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA412731399

rs_2067192032

1 SubmittersRCV001199534

NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter)

SNV
Germline

ChrX:38286916

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412731494

rs_2067193671

2 SubmittersRCV001199533 RCV001091407

NM_001034853.2(RPGR):c.935-1G>T

SNV
Germline

ChrX:38301372

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA412740500

rs_2067498051

2 SubmittersRCV001092671 RCV001199765

NM_001034853.2(RPGR):c.907G>T (p.Gly303Ter)

SNV
Germline

ChrX:38304662

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA412741220

rs_2067562201

1 SubmittersRCV001199763

NM_001034853.2(RPGR):c.602A>T (p.His201Leu)

SNV
Germline

ChrX:38317333

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA412744449

rs_2067845149

1 SubmittersRCV001199762

NM_001034853.2(RPGR):c.154+1G>A

SNV
Germline

ChrX:38323398

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412745724

rs_2067985165

3 SubmittersRCV001199766 RCV002275202 RCV004818172

NM_001034853.2(RPGR):c.29-1G>T

SNV
Germline

ChrX:38323525

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412746213

rs_2067987832

5 SubmittersRCV001074324 RCV001199767 RCV001092674

NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)

SNV
Germline

Chr1:215728342

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344829667

rs_1358947010

7 SubmittersRCV001004144 RCV002489513 RCV003455060 RCV004800657 RCV001383730

NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn)

SNV
Germline

Chr1:94063123

Conflicting classifications of pathogenicity

Cone-rod dystrophy 3
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA958443

rs_145265791

6 SubmittersRCV001005006 RCV001377733 RCV001075802 RCV005429292

NM_014014.5(SNRNP200):c.2438C>T (p.Ala813Val)

SNV
Germline

Chr2:96290799

Likely pathogenic

Retinitis pigmentosa 33

Criteria Provided
Single Submitter

CA347677337

rs_1470798497

1 SubmittersRCV001005002

NM_031885.5(BBS2):c.685T>C (p.Tyr229His)

SNV
Germline

Chr16:56506152

Conflicting classifications of pathogenicity

Retinitis pigmentosa 74
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
BBS2-related disorder
Condition: not provided
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Conflicting Classifications

CA8065964

rs_778543585

6 SubmittersRCV001005003 RCV001061887 RCV001832327 RCV004733109 RCV004721700 RCV005021314

NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter)

SNV
Germline

Chr1:216250997

Pathogenic

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344866417

rs_376674482

5 SubmittersRCV001007965 RCV003455064 RCV005021315

NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter)

SNV
Germline

Chr2:27461346

Pathogenic/Likely pathogenic

Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Multiple Submitters
No Conflicts

CA1580329

rs_202024173

6 SubmittersRCV001008014 RCV001213870 RCV003458171 RCV005232044 RCV005021316

NM_004744.5(LRAT):c.139C>T (p.Arg47Ter)

SNV
Germline

Chr4:154744465

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 14
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA108930202

rs_779996159

3 SubmittersRCV001008711 RCV005394622

NM_000539.3(RHO):c.571T>A (p.Tyr191Asn)

SNV
Unknown

Chr3:129532291

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

CA354499324

rs_1578280614

1 SubmittersRCV001027721

NM_178857.6(RP1L1):c.5470C>T (p.Gln1824Ter)

SNV
Germline

Chr8:10608628

Pathogenic

Retinitis pigmentosa 88

No Assertion Criteria Provided

CA370280912

rs_1585959862

1 SubmittersRCV001027883

NM_178857.6(RP1L1):c.56C>A (p.Pro19His)

SNV
Germline

Chr8:10623146

Pathogenic

Retinitis pigmentosa 88

No Assertion Criteria Provided

CA4625901

rs_748984657

1 SubmittersRCV001027884

NM_001201543.2(FAM161A):c.943A>T (p.Lys315Ter)

SNV
Germline

Chr2:61840061

Pathogenic

Retinitis pigmentosa 28
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346987776

rs_1572879569

4 SubmittersRCV001027886 RCV003727839

NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)

SNV
Germline

Chr6:35506101

Pathogenic

Retinitis pigmentosa 14
Leber congenital amaurosis
Autosomal recessive retinitis pigmentosa
Abnormality of the eye
Condition: not provided
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA363780306

rs_201070350

8 SubmittersRCV001028029 RCV001251337 RCV001257786 RCV001814258 RCV001054314 RCV001255925

NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)

SNV
Germline

Chr1:68440879

Likely pathogenic

Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA902456

rs_768445391

5 SubmittersRCV001029769 RCV001073324 RCV001208105 RCV001836068 RCV005036298

NM_201548.5(CERKL):c.677+547G>A

SNV
Germline

Chr2:181565511

Likely pathogenic

Retinitis pigmentosa 26
Condition: not provided

Criteria Provided
Single Submitter

CA349742729

rs_1044562973

2 SubmittersRCV001029856 RCV002552433

NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter)

SNV
Germline

Chr2:29073034

Likely pathogenic

Retinitis pigmentosa 54

No Assertion Criteria Provided

CA346480630

rs_1572829010

1 SubmittersRCV001029855

NM_001142800.2(EYS):c.8993T>C (p.Met2998Thr)

SNV
Germline

Chr6:63721038

Likely pathogenic

Retinitis pigmentosa 25

No Assertion Criteria Provided

CA140236812

rs_768837125

1 SubmittersRCV001029832

NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter)

SNV
Germline

Chr8:54630118

Likely pathogenic

Retinitis pigmentosa 1

No Assertion Criteria Provided

CA370991319

rs_1585569717

1 SubmittersRCV001029941

NM_020843.4(SCAPER):c.1081C>T (p.Arg361Ter)

SNV
Germline

Chr15:76771909

Likely pathogenic

Intellectual developmental disorder and retinitis pigmentosa
IDDRP

Criteria Provided
Single Submitter

CA7675019

rs_777893794

2 SubmittersRCV001029902

NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter)

SNV
Germline

Chr15:89210741

Pathogenic/Likely pathogenic

Condition: not provided
Pigmentary retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA7722197

rs_151141842

4 SubmittersRCV001318325 RCV001029758 RCV001844262

NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)

SNV
Germline

Chr1:216289353

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Hearing impairment
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396363

rs_373190681

5 SubmittersRCV001034143 RCV001100845 RCV001100844 RCV001375204 RCV004818185

NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)

SNV
Germline

Chr1:216323585

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Inborn genetic diseases
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396520

rs_200981928

10 SubmittersRCV001034413 RCV001097359 RCV001593193 RCV001097358 RCV002552058 RCV004783880 RCV004818187

NM_001029883.3(PCARE):c.103G>A (p.Gly35Arg)

SNV
Germline

Chr2:29074159

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1592719

rs_187178339

3 SubmittersRCV001034442 RCV001143463 RCV004030929

NM_001297.5(CNGB1):c.1024A>G (p.Lys342Glu)

SNV
Germline

Chr16:57950391

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8083601

rs_201203400

4 SubmittersRCV001033963 RCV001118431 RCV001074214 RCV002552046

NM_201253.3(CRB1):c.490C>T (p.Gln164Ter)

SNV
Germline

Chr1:197328841

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344085889

rs_1658684590

1 SubmittersRCV001055799

NM_201253.3(CRB1):c.522T>A (p.Cys174Ter)

SNV
Germline

Chr1:197328873

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344085956

rs_1658688864

2 SubmittersRCV001047854 RCV005012478

NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter)

SNV
Germline

Chr1:197356978

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344084608

rs_1660516364

2 SubmittersRCV001052034 RCV003473646

NM_201253.3(CRB1):c.2054G>T (p.Gly685Val)

SNV
Germline

Chr1:197421882

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA35893990

rs_748175297

1 SubmittersRCV001044718

NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)

SNV
Germline

Chr1:197427625

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis
Condition: not provided
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA344036931

rs_1451348539

7 SubmittersRCV001042149 RCV001074779 RCV003455171 RCV003455172 RCV001827256 RCV004768801 RCV003455170

NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg)

SNV
Germline

Chr1:197427895

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified

Criteria Provided
Conflicting Classifications

CA344038325

rs_1664678030

3 SubmittersRCV001038213 RCV001376351 RCV004587017

NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)

SNV
Germline

Chr1:197434877

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1312260

rs_369184026

7 SubmittersRCV001049924 RCV001073588 RCV001250611 RCV001832464 RCV003455212 RCV003455213 RCV005012488

NM_201253.3(CRB1):c.3329T>G (p.Phe1110Cys)

SNV
Germline

Chr1:197435192

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344047105

rs_1665086143

1 SubmittersRCV001058927

NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe)

SNV
Germline

Chr1:197435351

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1312343

rs_768713412

3 SubmittersRCV001049160 RCV003473638 RCV004813609

NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter)

SNV
Germline

Chr1:197442283

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344052722

rs_1665487563

3 SubmittersRCV001044149 RCV001531025 RCV003455181 RCV003455182

NM_201253.3(CRB1):c.4148G>A (p.Arg1383His)

SNV
Germline

Chr1:197477806

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Hereditary macular dystrophy

Criteria Provided
Conflicting Classifications

CA1312561

rs_200573274

3 SubmittersRCV001051385 RCV001275661 RCV005359815

NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln)

SNV
Germline

Chr1:197477865

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344036086

rs_1667269806

3 SubmittersRCV001065861 RCV003473688 RCV005012522

NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)

SNV
Germline

Chr1:215671067

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344840479

rs_1657798642

4 SubmittersRCV001055885 RCV001075003 RCV003455253 RCV005012499

NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys)

SNV
Germline

Chr1:215674428

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393283

rs_746221227

3 SubmittersRCV001047311 RCV001827299 RCV002497387

NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)

SNV
Germline

Chr1:215674778

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Inborn genetic diseases
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA1393345

rs_570277510

8 SubmittersRCV001043922 RCV001805991 RCV001073415 RCV001272944 RCV003160314 RCV004733115

NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg)

SNV
Germline

Chr1:215680349

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
not specified

Criteria Provided
Conflicting Classifications

CA37358152

rs_908265742

3 SubmittersRCV001049950 RCV003462545 RCV003396663

NM_206933.4(USH2A):c.11146C>T (p.Gln3716Ter)

SNV
Germline

Chr1:215759745

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344822849

rs_771260365

2 SubmittersRCV001066287 RCV003473689

NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)

SNV
Germline

Chr1:215759757

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393808

rs_201951918

5 SubmittersRCV001057430 RCV001271139 RCV003890203 RCV002482019 RCV003455257

NM_206933.4(USH2A):c.10820A>C (p.His3607Pro)

SNV
Germline

Chr1:215779962

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1393914

rs_750321557

5 SubmittersRCV001060442 RCV003455273 RCV003467808 RCV004782633

NM_206933.4(USH2A):c.9441G>A (p.Trp3147Ter)

SNV
Germline

Chr1:215817126

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344825126

rs_1662880750

3 SubmittersRCV001061745 RCV003473680 RCV005021401

NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)

SNV
Germline

Chr1:215879090

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA344832781

rs_1424639717

8 SubmittersRCV001052468 RCV001075376 RCV003455229 RCV005021377 RCV003455228 RCV004528359

NM_206933.4(USH2A):c.8231G>A (p.Trp2744Ter)

SNV
Germline

Chr1:215879091

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344832792

rs_1664846292

2 SubmittersRCV001036117 RCV004570095

NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter)

SNV
Germline

Chr1:215998928

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1395094

rs_769609970

4 SubmittersRCV001051415 RCV001073838 RCV003455223 RCV005606757

NM_206933.4(USH2A):c.5079G>A (p.Trp1693Ter)

SNV
Germline

Chr1:216084786

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344859067

rs_2032072206

2 SubmittersRCV001069986 RCV003469261

NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)

SNV
Germline

Chr1:216097109

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1395641

rs_201529124

10 SubmittersRCV001067861 RCV001376322 RCV002282450 RCV003455294 RCV004813699 RCV005021413

NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter)

SNV
Germline

Chr1:216250924

Pathogenic

Condition: not provided
Usher syndrome type 2
Retinitis pigmentosa 39
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA344866088

rs_1364987785

4 SubmittersRCV001058203 RCV002307669 RCV003473664 RCV004726845

NM_206933.4(USH2A):c.127G>A (p.Val43Met)

SNV
Germline

Chr1:216422210

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1396851

rs_147421006

5 SubmittersRCV001051408 RCV001277093 RCV003455222

NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)

SNV
Germline

Chr1:68431070

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902169

rs_749242996

3 SubmittersRCV001054425 RCV001559438 RCV005253695

NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)

SNV
Germline

Chr1:68431319

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA340742486

rs_34627040

5 SubmittersRCV001054822 RCV001250697 RCV001827346 RCV004527410 RCV005623082

NM_000329.3(RPE65):c.507C>A (p.Cys169Ter)

SNV
Germline

Chr1:68440989

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340747211

rs_1645898563

1 SubmittersRCV001039691

NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val)

SNV
Germline

Chr1:94010872

Pathogenic/Likely pathogenic

Condition: not provided
Cone-rod dystrophy 3
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA957186

rs_369973540

5 SubmittersRCV001058803 RCV002471022 RCV004813655 RCV005029638

NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)

SNV
Germline

Chr1:94014620

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA341281392

rs_1188515677

3 SubmittersRCV001040976 RCV002479263 RCV001270350

NM_000350.3(ABCA4):c.2930C>T (p.Thr977Met)

SNV
Germline

Chr1:94044733

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
ABCA4-related retinopathy
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA958090

rs_148015012

5 SubmittersRCV001063061 RCV004813673 RCV005359834 RCV005029647

NM_000350.3(ABCA4):c.1496G>A (p.Trp499Ter)

SNV
Germline

Chr1:94077748

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341281909

rs_1661575232

4 SubmittersRCV001052785 RCV001075839 RCV005036344

NM_000350.3(ABCA4):c.1342A>G (p.Met448Val)

SNV
Germline

Chr1:94078604

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA341282274

rs_1169850759

3 SubmittersRCV001063057 RCV004702620 RCV005036365

NM_000350.3(ABCA4):c.93G>A (p.Trp31Ter)

SNV
Germline

Chr1:94113040

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA341286738

rs_1191816747

5 SubmittersRCV001074538 RCV001067891 RCV005232105 RCV005236580

NM_006343.3(MERTK):c.98C>T (p.Pro33Leu)

SNV
Germline

Chr2:111929156

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Optic atrophy

Criteria Provided
Conflicting Classifications

CA1830976

rs_144751432

3 SubmittersRCV001059261 RCV001136136 RCV004813657

NM_006343.3(MERTK):c.1868T>A (p.Leu623Ter)

SNV
Germline

Chr2:112008383

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA348233056

rs_780007963

2 SubmittersRCV001053636 RCV001249884

NM_006343.3(MERTK):c.2467G>C (p.Glu823Gln)

SNV
Germline

Chr2:112022375

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 38

Criteria Provided
Conflicting Classifications

CA1831835

rs_55924349

3 SubmittersRCV001055389 RCV001131965 RCV005394693

NM_201548.5(CERKL):c.1462G>T (p.Glu488Ter)

SNV
Germline

Chr2:181539168

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 26
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA61572402

rs_188492864

6 SubmittersRCV001066599 RCV001073675 RCV001376310 RCV003226432

NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp)

SNV
Germline

Chr2:181544750

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

CA2010465

rs_139300604

5 SubmittersRCV001060318 RCV001075763 RCV001836101

NM_201548.5(CERKL):c.760G>T (p.Glu254Ter)

SNV
Germline

Chr2:181558626

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349740491

rs_1688308445

3 SubmittersRCV001039747 RCV005029592

NM_201548.5(CERKL):c.98T>G (p.Leu33Ter)

SNV
Germline

Chr2:181656909

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA2010953

rs_769632183

4 SubmittersRCV001074956 RCV001041839 RCV002239323 RCV005029595

NM_144631.6(ZNF513):c.395G>C (p.Cys132Ser)

SNV
Germline

Chr2:27378871

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
ZNF513-related disorder
Retinal dystrophy
Optic atrophy
not specified
Retinitis pigmentosa 58

Criteria Provided
Conflicting Classifications

CA1578065

rs_184500376

7 SubmittersRCV001054262 RCV001140879 RCV003906159 RCV004813631 RCV004813632 RCV004031707 RCV005394690

NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)

SNV
Germline

Chr2:27445404

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579401

rs_529850410

3 SubmittersRCV001046318 RCV002479285 RCV004553583

NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile)

SNV
Germline

Chr2:27445933

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579470

rs_115716101

4 SubmittersRCV001046263 RCV001759968 RCV002505580 RCV004738130

NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp)

SNV
Germline

Chr2:27448980

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Retinal dystrophy
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579633

rs_184506506

5 SubmittersRCV001044874 RCV001550209 RCV005029603 RCV003890180 RCV004553578

NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)

SNV
Germline

Chr2:27454019

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
not specified
Condition: not provided
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Asphyxiating thoracic dystrophy 1
Inborn genetic diseases
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579906

rs_141440865

7 SubmittersRCV001038571 RCV001819745 RCV001585938 RCV002489555 RCV003483758 RCV004031075 RCV004553570

NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)

SNV
Germline

Chr2:27456614

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinal dystrophy
Inborn genetic diseases
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580032

rs_76076247

5 SubmittersRCV001057892 RCV002505617 RCV003890205 RCV004031826 RCV004547963

NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys)

SNV
Germline

Chr2:27458799

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1580168

rs_762645007

4 SubmittersRCV001049835 RCV002481957 RCV004738132 RCV005348279

NM_015662.3(IFT172):c.1523G>A (p.Arg508His)

SNV
Germline

Chr2:27472251

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
IFT172-related disorder
Retinal dystrophy
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1580626

rs_144868723

7 SubmittersRCV001053472 RCV002553321 RCV004553592 RCV003890196 RCV005021380

NM_015662.3(IFT172):c.1444G>A (p.Val482Ile)

SNV
Germline

Chr2:27472330

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Inborn genetic diseases
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1580643

rs_771104054

3 SubmittersRCV001055460 RCV002554386 RCV002482000

NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)

SNV
Germline

Chr2:27477229

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Inborn genetic diseases
not specified
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580712

rs_367930028

7 SubmittersRCV001054271 RCV002291713 RCV002468131 RCV002553339 RCV003151274 RCV004553596

NM_015662.3(IFT172):c.590C>T (p.Pro197Leu)

SNV
Germline

Chr2:27481241

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1580912

rs_368373262

4 SubmittersRCV001068624 RCV002482120 RCV004547974 RCV004590081

NM_015662.3(IFT172):c.235A>G (p.Thr79Ala)

SNV
Germline

Chr2:27485079

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Inborn genetic diseases
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1581072

rs_752069515

4 SubmittersRCV001037389 RCV002479241 RCV004031029 RCV004553568

NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter)

SNV
Germline

Chr2:29070658

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 54
Retinitis pigmentosa with macular involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA1591887

rs_748396645

5 SubmittersRCV001041302 RCV001074821 RCV001542737 RCV005418962

NM_001029883.3(PCARE):c.1837C>T (p.Arg613Ter)

SNV
Germline

Chr2:29072425

Pathogenic

Condition: not provided
Retinitis pigmentosa 54

Criteria Provided
Multiple Submitters
No Conflicts

CA1592345

rs_772325487

3 SubmittersRCV001043324 RCV002225125

NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr)

SNV
Germline

Chr2:29074254

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 54

Criteria Provided
Conflicting Classifications

CA346483233

rs_1420546201

4 SubmittersRCV001059253 RCV001074612 RCV002482039

NM_001201543.2(FAM161A):c.1060C>T (p.Arg354Ter)

SNV
Germline

Chr2:61839944

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 28

Criteria Provided
Multiple Submitters
No Conflicts

CA48477539

rs_769445913

3 SubmittersRCV001060017 RCV003467805

NM_001201543.2(FAM161A):c.379C>T (p.Gln127Ter)

SNV
Germline

Chr2:61842165

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 28

Criteria Provided
Multiple Submitters
No Conflicts

CA346989302

rs_1673040470

2 SubmittersRCV001069567 RCV003462612

NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr)

SNV
Germline

Chr2:96291454

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 33
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347677700

rs_2063883437

4 SubmittersRCV001069774 RCV003127619 RCV003890226

NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys)

SNV
Germline

Chr2:96295538

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 33

Criteria Provided
Conflicting Classifications

CA1778847

rs_367922991

4 SubmittersRCV001041315 RCV001074176 RCV004789377

NM_014014.5(SNRNP200):c.1634G>A (p.Arg545His)

SNV
Germline

Chr2:96296573

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 33
SNRNP200-related disorder

Criteria Provided
Conflicting Classifications

CA347681962

rs_2063918355

3 SubmittersRCV001041316 RCV001352976 RCV004757364

NM_014014.5(SNRNP200):c.578A>G (p.Asp193Gly)

SNV
Germline

Chr2:96301050

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1779146

rs_144423660

4 SubmittersRCV001058052 RCV001136810

NM_000539.3(RHO):c.310G>A (p.Val104Ile)

SNV
Germline

Chr3:129529043

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1
Pigmentary retinal dystrophy
Retinal dystrophy
RHO-related disorder

Criteria Provided
Conflicting Classifications

CA2607107

rs_144317206

4 SubmittersRCV001067390 RCV002482112 RCV003890221 RCV004756165

NM_000539.3(RHO):c.512C>T (p.Pro171Leu)

SNV
Germline

Chr3:129531026

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 4
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA354498729

rs_2084776162

5 SubmittersRCV001069818 RCV001265189 RCV001073649

NM_000539.3(RHO):c.527C>T (p.Ser176Phe)

SNV
Germline

Chr3:129531041

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA354498825

rs_2084776365

2 SubmittersRCV001061969 RCV001265190

NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu)

SNV
Germline

Chr3:170481114

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa 68
Optic atrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2701681

rs_142416793

7 SubmittersRCV001050504 RCV002307665 RCV002481959 RCV004813618 RCV004813617

NM_182916.3(TRNT1):c.383A>G (p.Asp128Gly)

SNV
Germline

Chr3:3140550

Conflicting classifications of pathogenicity

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Condition: not provided
Retinitis pigmentosa and erythrocytic microcytosis
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2228635

rs_148398677

5 SubmittersRCV001071055 RCV003160586 RCV002480441 RCV002555903

NM_001378615.1(CC2D2A):c.1466G>A (p.Arg489Gln)

SNV
Germline

Chr4:15528726

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA356410808

rs_1300362447

3 SubmittersRCV001056635 RCV001760005 RCV005029631

NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)

SNV
Germline

Chr4:15567713

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Neurodevelopmental disorder
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA2864141

rs_760676442

5 SubmittersRCV001041856 RCV001280749 RCV002276597 RCV002489573

NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)

SNV
Germline

Chr4:16009098

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease 4
Retinal macular dystrophy type 2
Retinitis pigmentosa
Cone-rod dystrophy 12

Criteria Provided
Conflicting Classifications

CA2866846

rs_201748228

3 SubmittersRCV001044541 RCV001151119 RCV001151120 RCV001151121 RCV001145008

NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys)

SNV
Germline

Chr4:625846

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
PDE6B-related disorder
Retinitis pigmentosa 40
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA2793876

rs_144590560

4 SubmittersRCV001040277 RCV001156702 RCV001156703 RCV004740547 RCV005394667

NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter)

SNV
Germline

Chr4:653950

Pathogenic

Condition: not provided
Retinal dystrophy
See cases
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA355911385

rs_145605739

7 SubmittersRCV001061541 RCV001075156 RCV004584422 RCV001257887 RCV001724224

NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)

SNV
Germline

Chr4:662143

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA2794623

rs_760042062

3 SubmittersRCV001053317 RCV001074240 RCV002479325

NM_000283.4(PDE6B):c.1703C>T (p.Thr568Met)

SNV
Germline

Chr4:662222

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2794637

rs_369980987

3 SubmittersRCV001046319 RCV001155046 RCV001155047 RCV004031433

NM_000283.4(PDE6B):c.1996G>A (p.Ala666Thr)

SNV
Germline

Chr4:663845

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA2794799

rs_779474710

2 SubmittersRCV001054297 RCV001151261 RCV001151262

NM_000440.3(PDE6A):c.1724T>C (p.Leu575Pro)

SNV
Germline

Chr5:149895187

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA3504576

rs_759537984

2 SubmittersRCV001050508 RCV005056832

NM_000440.3(PDE6A):c.304C>T (p.Arg102Cys)

SNV
Germline

Chr5:149944370

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA3505083

rs_141252097

3 SubmittersRCV001040968 RCV001724216

NM_001242957.3(MAK):c.79G>C (p.Gly27Arg)

SNV
Germline

Chr6:10830570

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 62

Criteria Provided
Multiple Submitters
No Conflicts

CA3633839

rs_754916169

3 SubmittersRCV001053338 RCV004813626 RCV005036346

NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln)

SNV
Germline

Chr6:35503762

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 15
Leber congenital amaurosis
Leber congenital amaurosis 15
Retinitis pigmentosa 14
Retinitis pigmentosa 14

Criteria Provided
Multiple Submitters
No Conflicts

CA3772630

rs_748972748

7 SubmittersRCV001057548 RCV001255927 RCV004587030 RCV005047261 RCV005235512

NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro)

SNV
Germline

Chr6:42704534

Pathogenic/Likely pathogenic

PRPH2-related disorder
Condition: not provided
Patterned dystrophy of the retinal pigment epithelium
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364135472

rs_61755810

4 SubmittersRCV001067304 RCV001530244 RCV001250312 RCV001250311 RCV004813695

NM_000322.5(PRPH2):c.454A>G (p.Met152Val)

SNV
Germline

Chr6:42721881

Conflicting classifications of pathogenicity

PRPH2-related disorder
Adult-onset foveomacular vitelliform dystrophy
Cone-rod dystrophy
Retinitis pigmentosa
Pigmentary retinal dystrophy
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3808609

rs_146703538

5 SubmittersRCV001050346 RCV001161385 RCV001162923 RCV001161384 RCV001161386 RCV001162922 RCV001162924 RCV001530339 RCV003890189

NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr)

SNV
Germline

Chr6:63720972

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA140236806

rs_948998853

6 SubmittersRCV001057746 RCV002249665 RCV003890204

NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)

SNV
Germline

Chr6:63721197

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA364383871

rs_1161453292

7 SubmittersRCV001037096 RCV001073472 RCV001827220 RCV005432537

NM_001142800.2(EYS):c.8750T>A (p.Leu2917Ter)

SNV
Germline

Chr6:63721281

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA3876696

rs_764362221

2 SubmittersRCV001062754 RCV002249666

NM_001142800.2(EYS):c.8207C>T (p.Ala2736Val)

SNV
Germline

Chr6:63726545

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3876722

rs_374200609

4 SubmittersRCV001061363 RCV001832549 RCV003160492

NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter)

SNV
Germline

Chr6:63726609

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364386174

rs_1299355731

3 SubmittersRCV001037794 RCV003890167 RCV003461437

NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)

SNV
Germline

Chr6:63726645

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA3876735

rs_184722374

8 SubmittersRCV001057875 RCV001073953 RCV001784611 RCV001260371

NM_001142800.2(EYS):c.5566C>T (p.Arg1856Trp)

SNV
Germline

Chr6:64590301

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3877009

rs_116561042

3 SubmittersRCV001042870 RCV001274969 RCV005338521

NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser)

SNV
Germline

Chr6:64591474

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA364783427

rs_747921119

4 SubmittersRCV001045506 RCV001161167 RCV001274978 RCV003890182

NM_001142800.2(EYS):c.4199C>A (p.Ser1400Ter)

SNV
Germline

Chr6:64591668

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364783834

rs_1245304444

3 SubmittersRCV001058074 RCV001074465 RCV004570230

NM_001142800.2(EYS):c.3809T>G (p.Val1270Gly)

SNV
Germline

Chr6:64593185

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3877129

rs_368856942

4 SubmittersRCV001050905 RCV001164781 RCV003890190

NM_001142800.2(EYS):c.3561C>A (p.Cys1187Ter)

SNV
Germline

Chr6:64626128

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364785267

rs_1767601438

3 SubmittersRCV001038505 RCV003467718

NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter)

SNV
Germline

Chr6:64822812

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364788071

rs_1389794536

5 SubmittersRCV001047737 RCV001073224 RCV001827300

NM_001142800.2(EYS):c.2889T>A (p.Cys963Ter)

SNV
Germline

Chr6:64886800

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA140377021

rs_989589885

3 SubmittersRCV001045154 RCV001274888 RCV003462531

NM_001142800.2(EYS):c.2259C>T (p.Leu753=)

SNV
Germline

Chr6:64997582

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA140390405

rs_781359405

5 SubmittersRCV001047061 RCV001827294 RCV003890183

NM_001142800.2(EYS):c.1650T>G (p.Tyr550Ter)

SNV
Germline

Chr6:65335096

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364661155

rs_1769936722

2 SubmittersRCV001038072 RCV001376342

NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr)

SNV
Germline

Chr6:65353568

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA3877776

rs_138255012

5 SubmittersRCV001059689 RCV001809970 RCV001276909 RCV003987773

NM_000883.4(IMPDH1):c.698G>C (p.Gly233Ala)

SNV
Germline

Chr7:128400421

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 10

Criteria Provided
Conflicting Classifications

CA369173449

rs_1272549405

2 SubmittersRCV001064687 RCV003389484

NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)

SNV
Germline

Chr8:43178109

Conflicting classifications of pathogenicity

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
HGSNAT-related disorder
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4736679

rs_372933126

9 SubmittersRCV001042356 RCV001275630 RCV001250771 RCV003963005 RCV004768802 RCV004813581

NM_152419.3(HGSNAT):c.1174C>T (p.Gln392Ter)

SNV
Germline

Chr8:43191519

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA371119055

rs_1804527418

1 SubmittersRCV001038813

NM_152419.3(HGSNAT):c.1700G>A (p.Trp567Ter)

SNV
Germline

Chr8:43197926

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371120778

rs_1804781641

1 SubmittersRCV001047096

NM_006269.2(RP1):c.1468G>T (p.Glu490Ter)

SNV
Germline

Chr8:54625350

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 1

Criteria Provided
Multiple Submitters
No Conflicts

CA4751378

rs_765035454

2 SubmittersRCV001052955 RCV002497411

NM_001012720.2(RGR):c.236G>A (p.Arg79Gln)

SNV
Germline

Chr10:84247747

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 44

Criteria Provided
Conflicting Classifications

CA5581335

rs_761554381

2 SubmittersRCV001043934 RCV001352959

NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe)

SNV
Germline

Chr14:76082643

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 3
Short-rib thoracic dysplasia 18 with polydactyly
Retinitis pigmentosa 81
not specified

Criteria Provided
Conflicting Classifications

CA7280880

rs_201692401

4 SubmittersRCV001053275 RCV002479324 RCV004031679

NM_014249.4(NR2E3):c.123G>A (p.Val41=)

SNV
Germline

Chr15:71811487

Conflicting classifications of pathogenicity

Condition: not provided
Enhanced S-cone syndrome
Retinitis pigmentosa
Goldmann-Favre syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7640216

rs_555860015

4 SubmittersRCV001049667 RCV001118170 RCV001118171 RCV001280213 RCV003890186

NM_014249.4(NR2E3):c.767C>T (p.Ala256Val)

SNV
Germline

Chr15:71813408

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 37
Enhanced S-cone syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7640400

rs_377257254

5 SubmittersRCV001046776 RCV001119921 RCV001118395 RCV004813600

NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys)

SNV
Germline

Chr16:1511024

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Inborn genetic diseases
Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7812788

rs_201642067

4 SubmittersRCV001061980 RCV003283944 RCV003890211 RCV005021403

NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile)

SNV
Germline

Chr16:1511030

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7812791

rs_145746065

4 SubmittersRCV001060475 RCV002489663 RCV003160485 RCV004813662

NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys)

SNV
Germline

Chr16:1511036

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7812795

rs_141392067

5 SubmittersRCV001064962 RCV004813684 RCV003393834 RCV005394711

NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr)

SNV
Germline

Chr16:1511128

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7812831

rs_202129528

4 SubmittersRCV001036582 RCV002489544 RCV002552463 RCV003883532

NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu)

SNV
Germline

Chr16:1518239

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
IFT140-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7812888

rs_142668269

5 SubmittersRCV001064370 RCV002489684 RCV003243459 RCV004753196 RCV005411656

NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp)

SNV
Germline

Chr16:1520700

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7813116

rs_575196272

2 SubmittersRCV001046762 RCV002479288

NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser)

SNV
Germline

Chr16:1523925

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7813265

rs_141471091

3 SubmittersRCV001053133 RCV002481974 RCV002553308

NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn)

SNV
Germline

Chr16:1525909

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7813509

rs_568921640

3 SubmittersRCV001064320 RCV002489683 RCV002553955

NM_014714.4(IFT140):c.2716C>T (p.Arg906Cys)

SNV
Germline

Chr16:1525939

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7813521

rs_755504361

2 SubmittersRCV001071711 RCV005021428

NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln)

SNV
Germline

Chr16:1526004

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7813542

rs_150498538

3 SubmittersRCV001053823 RCV002481981 RCV002553329

NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp)

SNV
Germline

Chr16:1566201

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Inborn genetic diseases
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7814115

rs_146480546

4 SubmittersRCV001057154 RCV002553366 RCV002489647 RCV005093345

NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr)

SNV
Germline

Chr16:1583329

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Condition: not provided
IFT140-related disorder

Criteria Provided
Conflicting Classifications

CA7814311

rs_149642543

5 SubmittersRCV001049333 RCV002479303 RCV002553199 RCV004693513 RCV004753179

NM_031885.5(BBS2):c.1666A>G (p.Ile556Val)

SNV
Germline

Chr16:56497874

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Inborn genetic diseases
BBS2-related disorder
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Conflicting Classifications

CA8065644

rs_376380339

5 SubmittersRCV001056886 RCV001273907 RCV003160457 RCV004733134 RCV005021389

NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr)

SNV
Germline

Chr16:57903954

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 45

Criteria Provided
Conflicting Classifications

CA8082864

rs_368328328

4 SubmittersRCV001045656 RCV001118215 RCV001353011

NM_001297.5(CNGB1):c.1896C>A (p.Cys632Ter)

SNV
Germline

Chr16:57919160

Pathogenic

Condition: not provided
Retinitis pigmentosa 45
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA8083244

rs_774264204

3 SubmittersRCV001056558 RCV001376211 RCV003324552

NM_001297.5(CNGB1):c.1667C>A (p.Thr556Lys)

SNV
Germline

Chr16:57920521

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA8083333

rs_199836349

2 SubmittersRCV001058097 RCV001119867

NM_001297.5(CNGB1):c.1028T>C (p.Met343Thr)

SNV
Germline

Chr16:57950387

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8083600

rs_202174131

3 SubmittersRCV001054784 RCV001118430 RCV004031729

NM_001297.5(CNGB1):c.873C>A (p.Thr291=)

SNV
Germline

Chr16:57957342

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083653

rs_181481207

2 SubmittersRCV001118432 RCV001063597

NM_199355.4(ADAMTS18):c.2752A>G (p.Lys918Glu)

SNV
Germline

Chr16:77297338

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases
Microcornea-myopic chorioretinal atrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8180759

rs_138435590

5 SubmittersRCV001043787 RCV001593211 RCV002552537 RCV003141961 RCV004813584

NM_138393.4(REEP6):c.223G>A (p.Glu75Lys)

SNV
Germline

Chr19:1495482

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 77

Criteria Provided
Conflicting Classifications

CA9047458

rs_144942685

3 SubmittersRCV001066628 RCV001376497

NM_000554.6(CRX):c.118C>T (p.Arg40Trp)

SNV
Germline

Chr19:47836260

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Cone-rod dystrophy 2
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA9544401

rs_749738655

7 SubmittersRCV001075179 RCV001071559 RCV001352999 RCV003318660 RCV005418984

NM_006899.5(IDH3B):c.1A>G (p.Met1Val)

SNV
Germline

Chr20:2664188

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 46

Criteria Provided
Conflicting Classifications

CA408041377

rs_1366785022

2 SubmittersRCV001064375 RCV005029650

NM_206933.4(USH2A):c.14968+2T>G

SNV
Germline

Chr1:215640556

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344827548

rs_1656640356

2 SubmittersRCV001063419 RCV005021405

NM_201548.5(CERKL):c.1160-10T>G

SNV
Germline

Chr2:181547736

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 26
not specified

Criteria Provided
Conflicting Classifications

CA2010507

rs_771126203

4 SubmittersRCV001055759 RCV005408666 RCV001277029 RCV002249663

NM_000350.3(ABCA4):c.859-9T>C

SNV
Germline

Chr1:94080727

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA958689

rs_529598960

8 SubmittersRCV001065436 RCV001074005 RCV004536128 RCV005235516 RCV005036373

NM_201253.3(CRB1):c.70+2T>A

SNV
Germline

Chr1:197268484

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344082568

rs_1654723466

1 SubmittersRCV001045412

NM_201253.3(CRB1):c.4006-10A>G

SNV
Germline

Chr1:197477654

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1312529

rs_766850702

9 SubmittersRCV001056224 RCV001376226 RCV001074118 RCV001197156 RCV003473660 RCV005012500

NM_000539.3(RHO):c.936+1G>T

SNV
Germline

Chr3:129532773

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA2607314

rs_776014770

5 SubmittersRCV001060212 RCV001724222 RCV001265165

NM_001142800.2(EYS):c.7578+1G>A

SNV
Germline

Chr6:63789057

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364385566

rs_1228475082

3 SubmittersRCV001051367 RCV001075353 RCV005036341

NM_001142800.2(EYS):c.6571+1G>A

SNV
Germline

Chr6:64081855

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA364390725

rs_1193854376

6 SubmittersRCV001376419 RCV001059361 RCV001724220

NM_000440.3(PDE6A):c.998+1G>A

SNV
Germline

Chr5:149914942

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 43
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3504845

rs_748946491

6 SubmittersRCV001060604 RCV001724223 RCV003225740 RCV004813663

NM_206933.4(USH2A):c.15297+1G>C

SNV
Germline

Chr1:215634458

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1392748

rs_767630412

6 SubmittersRCV001048038 RCV001276140 RCV001075770 RCV003446597

NM_000283.4(PDE6B):c.2193+5G>A

SNV
Germline

Chr4:664949

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA2794920

rs_576895229

2 SubmittersRCV001043784 RCV001155157 RCV001155158

NM_001142800.2(EYS):c.5836-3C>T

SNV
Germline

Chr6:64436268

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA140321739

rs_748977292

2 SubmittersRCV001063920 RCV001833625

NM_001142800.2(EYS):c.3568+1G>A

SNV
Germline

Chr6:64626120

Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364785249

rs_1767600988

3 SubmittersRCV001044250 RCV001073831 RCV001827270

NM_001142800.2(EYS):c.2381+1G>A

SNV
Germline

Chr6:64945792

Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364787868

rs_1769267226

3 SubmittersRCV001038182 RCV001075328 RCV003461438

NM_014285.7(EXOSC2):c.801+1G>A

SNV
Germline

Chr9:130703182

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Criteria Provided
Conflicting Classifications

CA5284979

rs_780641666

2 SubmittersRCV001038554 RCV004761891

NM_001297.5(CNGB1):c.1210-2A>G

SNV
Germline

Chr16:57939594

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8083494

rs_373232101

2 SubmittersRCV001044110 RCV002489581

NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)

SNV
Germline

Chr1:197328898

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA344081524

rs_1658691162

3 SubmittersRCV001353026 RCV001862532 RCV001074004

NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu)

SNV
Germline

Chr1:197356888

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1311789

rs_148551147

3 SubmittersRCV002069579 RCV001074490 RCV005318611

NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter)

SNV
Germline

Chr1:197356967

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344084582

rs_1660515780

4 SubmittersRCV003455393 RCV003455394 RCV002554741 RCV001075076 RCV003455395

NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)

SNV
Germline

Chr1:197421176

Likely pathogenic

Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344030488

rs_1664290387

3 SubmittersRCV003455314 RCV003455315 RCV001073402 RCV002554660 RCV003455313

NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)

SNV
Germline

Chr1:197421257

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Autosomal recessive retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA35893461

rs_866822473

8 SubmittersRCV001205896 RCV001257860 RCV001075147 RCV001724243 RCV003455399 RCV003455400 RCV003455401

NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro)

SNV
Germline

Chr1:197421264

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA35893495

rs_963201816

3 SubmittersRCV001075152 RCV003455403 RCV002557921 RCV003455402 RCV003455404

NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)

SNV
Germline

Chr1:197427822

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344037792

rs_1664671663

3 SubmittersRCV002554698 RCV003455343 RCV003455344 RCV001074122 RCV003455345

NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)

SNV
Germline

Chr1:197435314

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344048009

rs_1558138741

3 SubmittersRCV003455380 RCV003455381 RCV003455382 RCV001074865 RCV001862578

NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)

SNV
Germline

Chr1:197435516

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344050252

rs_1450635782

3 SubmittersRCV001862600 RCV003455406 RCV003455407 RCV003455405 RCV001075199

NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)

SNV
Germline

Chr1:197442278

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1312457

rs_760544654

7 SubmittersRCV001073526 RCV001092289 RCV001696228 RCV001378742 RCV003455324 RCV003455325 RCV005012536 RCV003455326

NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)

SNV
Germline

Chr1:215648741

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA37390502

rs_149807281

7 SubmittersRCV001073804 RCV001376409 RCV001828535 RCV001245666 RCV002557899 RCV004587040

NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)

SNV
Germline

Chr1:215674344

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA344844569

rs_746442849

3 SubmittersRCV001073309 RCV001862801 RCV003455312 RCV003455311

NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser)

SNV
Germline

Chr1:215674563

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393307

rs_141696914

4 SubmittersRCV001074021 RCV001862816 RCV001810494 RCV005012538

NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter)

SNV
Germline

Chr1:215675208

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344849740

rs_1657976232

4 SubmittersRCV001245216 RCV001073536 RCV003455327

NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)

SNV
Germline

Chr1:215675351

Conflicting classifications of pathogenicity

Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1393450

rs_147304271

5 SubmittersRCV001073233 RCV002480448 RCV001245929 RCV001828533

NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)

SNV
Germline

Chr1:215675611

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344851353

rs_1657997730

4 SubmittersRCV001074890 RCV001211797 RCV003455387

NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)

SNV
Germline

Chr1:215759735

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393801

rs_527236139

5 SubmittersRCV001376388 RCV003455351 RCV001074265 RCV005021430

NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter)

SNV
Germline

Chr1:215766730

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344827092

rs_1661140054

3 SubmittersRCV001075028 RCV003455390 RCV002554736

NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter)

SNV
Germline

Chr1:215782916

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344838181

rs_1661687852

3 SubmittersRCV001073693 RCV001862515 RCV003455330

NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)

SNV
Germline

Chr1:215790249

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1394156

rs_141452179

5 SubmittersRCV001073240 RCV001226170 RCV001833681 RCV003455307 RCV005286310

NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter)

SNV
Germline

Chr1:215813784

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344821678

rs_1662771528

4 SubmittersRCV001074877 RCV002557918 RCV003455386 RCV005236587

NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)

SNV
Germline

Chr1:216070191

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1395289

rs_747652397

5 SubmittersRCV001862836 RCV003455373 RCV001074681 RCV002489722 RCV003455372

NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr)

SNV
Germline

Chr1:216078155

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344855891

rs_755032078

4 SubmittersRCV001204740 RCV001074741 RCV005418987 RCV003455374

NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly)

SNV
Germline

Chr1:216078214

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA344856138

rs_777011507

3 SubmittersRCV001073280 RCV002554652 RCV005012535

NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter)

SNV
Germline

Chr1:216097134

Pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344861156

rs_2032459600

4 SubmittersRCV001075753 RCV002555918 RCV003455422

NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)

SNV
Germline

Chr1:216175303

Pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395688

rs_769198746

5 SubmittersRCV001075822 RCV001381658 RCV002250723 RCV003455425

NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)

SNV
Germline

Chr1:216196671

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344866571

rs_2034852728

7 SubmittersRCV001074304 RCV001243846 RCV002471033 RCV004570315 RCV003323795

NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)

SNV
Germline

Chr1:216247207

Pathogenic/Likely pathogenic

Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1396268

rs_757154662

7 SubmittersRCV001074494 RCV001809978 RCV003455368 RCV001385356

NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe)

SNV
Germline

Chr1:216250983

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
not specified
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA344866349

rs_1352007983

4 SubmittersRCV001073592 RCV001862507 RCV003455328 RCV004689987 RCV003455329

NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter)

SNV
Germline

Chr1:216323574

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344909960

rs_766370703

3 SubmittersRCV001075640 RCV002554764 RCV003455415

NM_206933.4(USH2A):c.98C>A (p.Ser33Ter)

SNV
Germline

Chr1:216422239

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344905026

rs_2039690812

4 SubmittersRCV001073478 RCV002554665 RCV003455321

NM_000329.3(RPE65):c.1040G>A (p.Arg347His)

SNV
Germline

Chr1:68438275

Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902309

rs_562037932

4 SubmittersRCV001073373 RCV002554658 RCV003469271 RCV004801928

NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)

SNV
Germline

Chr1:68444827

Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis

Reviewed By Expert Panel

CA340748300

rs_1444234037

5 SubmittersRCV001073555 RCV001089888 RCV002554669 RCV004801929 RCV005408682

NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)

SNV
Germline

Chr1:93997872

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA956820

rs_779585931

5 SubmittersRCV001073878 RCV001371824 RCV004564573 RCV005029676

NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val)

SNV
Germline

Chr1:94001949

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341278309

rs_1362964563

5 SubmittersRCV001073480 RCV004587039 RCV003558652 RCV005029675

NM_000350.3(ABCA4):c.6095A>G (p.His2032Arg)

SNV
Germline

Chr1:94005493

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA341279008

rs_1242866408

4 SubmittersRCV001075791 RCV001235229 RCV005408685

NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe)

SNV
Germline

Chr1:94019719

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA957380

rs_201996979

4 SubmittersRCV001073357 RCV001247223 RCV005029673

NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His)

SNV
Germline

Chr1:94041345

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341291094

rs_1801269

4 SubmittersRCV001073590 RCV003405293 RCV005036386

NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter)

SNV
Germline

Chr1:94060702

Pathogenic

Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA958369

rs_757302286

5 SubmittersRCV001074567 RCV001376519 RCV001381381 RCV005029680

NM_000350.3(ABCA4):c.1726G>C (p.Asp576His)

SNV
Germline

Chr1:94063146

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA958448

rs_374224955

3 SubmittersRCV001073439 RCV001862502 RCV005029674

NM_000350.3(ABCA4):c.1208A>T (p.Asp403Val)

SNV
Germline

Chr1:94079353

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA26868971

rs_913030626

4 SubmittersRCV001075397 RCV001206811 RCV005432573

NM_006343.3(MERTK):c.263C>T (p.Ser88Leu)

SNV
Germline

Chr2:111929321

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 38

Criteria Provided
Conflicting Classifications

CA1831007

rs_372527246

3 SubmittersRCV001074444 RCV001341613 RCV005250134

NM_201548.5(CERKL):c.1566T>G (p.Tyr522Ter)

SNV
Germline

Chr2:181538217

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349732683

rs_1278226911

2 SubmittersRCV001074694 RCV005029681

NM_201548.5(CERKL):c.375C>G (p.Cys125Trp)

SNV
Germline

Chr2:181603943

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA2010854

rs_200711686

5 SubmittersRCV001074862 RCV001233966 RCV001833689

NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter)

SNV
Germline

Chr2:27453485

Pathogenic/Likely pathogenic

Retinal dystrophy
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Multiple Submitters
No Conflicts

CA346377792

rs_1366937730

2 SubmittersRCV001073779 RCV001207420

NM_001029883.3(PCARE):c.802C>T (p.Gln268Ter)

SNV
Germline

Chr2:29073460

Pathogenic

Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA44643666

rs_866543181

3 SubmittersRCV001074763 RCV001257876 RCV001387747

NM_014014.5(SNRNP200):c.3688A>G (p.Ser1230Gly)

SNV
Germline

Chr2:96286829

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 33

Criteria Provided
Conflicting Classifications

CA1778399

rs_372772120

3 SubmittersRCV001301809 RCV001074855 RCV004771491

NM_016247.4(IMPG2):c.3113G>T (p.Cys1038Phe)

SNV
Germline

Chr3:101232901

Conflicting classifications of pathogenicity

Retinitis pigmentosa 56
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA353850231

rs_1706305751

2 SubmittersRCV001376407 RCV001074203

NM_016247.4(IMPG2):c.1739T>G (p.Leu580Ter)

SNV
Germline

Chr3:101244592

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 56

Criteria Provided
Multiple Submitters
No Conflicts

CA2519099

rs_770399625

2 SubmittersRCV001075046 RCV005408684

NM_016247.4(IMPG2):c.1589C>A (p.Ser530Ter)

SNV
Germline

Chr3:101244742

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 56

Criteria Provided
Multiple Submitters
No Conflicts

CA353860540

rs_1472199114

3 SubmittersRCV001073544 RCV001386296 RCV005235520

NM_016247.4(IMPG2):c.411G>A (p.Trp137Ter)

SNV
Germline

Chr3:101304236

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 56
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2519485

rs_764109533

4 SubmittersRCV001074321 RCV001376406 RCV001862553

NM_000539.3(RHO):c.325G>A (p.Gly109Arg)

SNV
Germline

Chr3:129529058

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA354496896

rs_1415160298

3 SubmittersRCV001073984 RCV001862531 RCV001265179

NM_000539.3(RHO):c.328T>C (p.Cys110Arg)

SNV
Germline

Chr3:129529061

Pathogenic

Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 4
Condition: not provided
Congenital stationary night blindness autosomal dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA354496911

rs_1578278438

5 SubmittersRCV001075603 RCV003324555 RCV001265180 RCV001389459 RCV001542565

NM_000539.3(RHO):c.512C>A (p.Pro171Gln)

SNV
Germline

Chr3:129531026

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 4
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA354498726

rs_2084776162

6 SubmittersRCV001074404 RCV001090663 RCV001265188 RCV001724238

NM_000539.3(RHO):c.532T>C (p.Tyr178His)

SNV
Germline

Chr3:129532252

Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA354499057

rs_2084785435

3 SubmittersRCV001321723 RCV001075883 RCV001265191

NM_000539.3(RHO):c.551A>G (p.Gln184Arg)

SNV
Germline

Chr3:129532271

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1
Pigmentary retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354499186

rs_1402468701

6 SubmittersRCV001535689 RCV002249673 RCV001075493 RCV003447316 RCV001337215

NM_000539.3(RHO):c.560G>T (p.Cys187Phe)

SNV
Germline

Chr3:129532280

Likely pathogenic

Retinitis pigmentosa 4
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354499242

rs_1578280588

3 SubmittersRCV001265197 RCV001074608 RCV001862569

NM_000539.3(RHO):c.647T>A (p.Met216Lys)

SNV
Germline

Chr3:129532367

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA354469952

rs_984572250

7 SubmittersRCV001090666 RCV001073436 RCV001542566 RCV001265200

NM_000539.3(RHO):c.1028G>A (p.Ser343Asn)

SNV
Germline

Chr3:129533699

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 4

Criteria Provided
Conflicting Classifications

CA354471256

rs_2084801470

5 SubmittersRCV001090668 RCV001075811 RCV001265169

NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)

SNV
Germline

Chr4:15984309

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Stargardt disease 4
Retinitis pigmentosa 41
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinitis pigmentosa 41

Criteria Provided
Conflicting Classifications

CA92574710

rs_1033920857

4 SubmittersRCV001073905 RCV001862810 RCV002489720 RCV001376252

NM_001379270.1(CNGA1):c.1061T>C (p.Leu354Pro)

SNV
Germline

Chr4:47937421

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 49

Criteria Provided
Conflicting Classifications

CA2911139

rs_748126956

3 SubmittersRCV001073893 RCV001862522 RCV001374882

NM_001379270.1(CNGA1):c.105C>A (p.Cys35Ter)

SNV
Germline

Chr4:47952585

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
CNGA1-related disorder
Retinitis pigmentosa 49

Criteria Provided
Multiple Submitters
No Conflicts

CA356836484

rs_1237954156

5 SubmittersRCV001075406 RCV003442200 RCV004757374 RCV005036391

NM_000283.4(PDE6B):c.1935C>A (p.Tyr645Ter)

SNV
Germline

Chr4:663784

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA355918184

rs_1737429976

3 SubmittersRCV001074559 RCV002554727 RCV004819236

NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)

SNV
Germline

Chr4:663803

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 40
Retinitis pigmentosa 40
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

CA2794791

rs_373037737

6 SubmittersRCV001724236 RCV001382538 RCV001074165 RCV001376495 RCV002497489

NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter)

SNV
Germline

Chr5:149866226

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 43
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3504330

rs_759563967

4 SubmittersRCV001073639 RCV001784630 RCV001381541

NM_000440.3(PDE6A):c.1689C>A (p.His563Gln)

SNV
Germline

Chr5:149895222

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

CA3504592

rs_776918069

4 SubmittersRCV001074263 RCV001226626 RCV002489721

NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter)

SNV
Germline

Chr6:35503564

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 15
Retinal dystrophy
Retinitis pigmentosa 14
Leber congenital amaurosis 15
Retinitis pigmentosa 14

Criteria Provided
Multiple Submitters
No Conflicts

CA3772599

rs_751589956

6 SubmittersRCV001386010 RCV001255932 RCV001075390 RCV005036390 RCV005253713

NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu)

SNV
Germline

Chr6:63720900

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA140236795

rs_772549804

4 SubmittersRCV001073340 RCV003155355 RCV003462627

NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)

SNV
Germline

Chr6:63726546

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA364385803

rs_1250317776

8 SubmittersRCV001075653 RCV001305529 RCV001833695 RCV003317429

NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter)

SNV
Germline

Chr6:64590912

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA140340922

rs_909730457

4 SubmittersRCV001075654 RCV001382260 RCV003462634

NM_001142800.2(EYS):c.4046G>A (p.Arg1349Gln)

SNV
Germline

Chr6:64591821

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 25
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3877110

rs_368698537

4 SubmittersRCV001073826 RCV001833684 RCV004031178 RCV001229658

NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter)

SNV
Germline

Chr6:64886725

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364788655

rs_1245121527

4 SubmittersRCV001074342 RCV001387925 RCV003462630

NM_001142800.2(EYS):c.2545C>T (p.Arg849Cys)

SNV
Germline

Chr6:64912580

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA140380275

rs_369347845

3 SubmittersRCV001074692 RCV001862573 RCV002480451

NM_001142800.2(EYS):c.1982T>A (p.Leu661Ter)

SNV
Germline

Chr6:65295904

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364659378

rs_1295206142

3 SubmittersRCV001073358 RCV001387259 RCV005036384

NM_001142800.2(EYS):c.967G>T (p.Gly323Ter)

SNV
Germline

Chr6:65405263

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3877912

rs_746499646

4 SubmittersRCV001862505 RCV003462628 RCV001073570

NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter)

SNV
Germline

Chr8:10612909

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 88
Occult macular dystrophy
Occult macular dystrophy
Retinitis pigmentosa 88

Criteria Provided
Multiple Submitters
No Conflicts

CA4625277

rs_371886218

4 SubmittersRCV001073663 RCV002489719 RCV005232118 RCV005253709

NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter)

SNV
Germline

Chr8:10612991

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 88
RP1L1-related disorder

Criteria Provided
Conflicting Classifications

CA4625313

rs_567106336

5 SubmittersRCV001090299 RCV001073256 RCV001593252 RCV003405291

NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)

SNV
Germline

Chr8:43192383

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
not specified
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA371119701

rs_763301637

6 SubmittersRCV001251049 RCV002554715 RCV003155356 RCV001074429 RCV001552003

NM_006269.2(RP1):c.2305A>T (p.Lys769Ter)

SNV
Germline

Chr8:54626187

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 1

Criteria Provided
Multiple Submitters
No Conflicts

CA370993381

rs_1488237523

4 SubmittersRCV001074169 RCV001862542 RCV005251249

NM_152443.3(RDH12):c.599A>G (p.Tyr200Cys)

SNV
Germline

Chr14:67727131

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA390151429

rs_1163040913

3 SubmittersRCV001255716 RCV001075659 RCV005418990

NM_014249.4(NR2E3):c.290G>A (p.Arg97His)

SNV
Germline

Chr15:71811810

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Enhanced S-cone syndrome
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA393032536

rs_1489149705

6 SubmittersRCV001075623 RCV001202142 RCV001836119 RCV004768857

NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter)

SNV
Germline

Chr15:71811829

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 37
Condition: not provided
Enhanced S-cone syndrome
Enhanced S-cone syndrome
Retinitis pigmentosa 37

Criteria Provided
Multiple Submitters
No Conflicts

CA272575001

rs_955766374

10 SubmittersRCV001075821 RCV001593257 RCV001390830 RCV001833696 RCV005012542

NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr)

SNV
Germline

Chr16:1524864

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7813423

rs_369493147

3 SubmittersRCV001075464 RCV002505666 RCV001371865

NM_014714.4(IFT140):c.1984G>A (p.Val662Ile)

SNV
Germline

Chr16:1564080

Conflicting classifications of pathogenicity

Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7814059

rs_199758112

3 SubmittersRCV001074636 RCV001862835 RCV002480450

NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro)

SNV
Germline

Chr16:1584324

Conflicting classifications of pathogenicity

Retinal dystrophy
Saldino-Mainzer syndrome
Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7814389

rs_770890983

4 SubmittersRCV001074233 RCV001366836 RCV004720064 RCV005021429

NM_014714.4(IFT140):c.409C>T (p.Arg137Ter)

SNV
Germline

Chr16:1592549

Pathogenic/Likely pathogenic

Retinal dystrophy
Renal cyst
Saldino-Mainzer syndrome
Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7814710

rs_762817061

5 SubmittersRCV001075497 RCV005417387 RCV003645884 RCV003883548 RCV005021433

NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter)

SNV
Germline

Chr16:57917346

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA396064234

rs_1210263161

4 SubmittersRCV001073811 RCV005056859 RCV005012537

NM_001297.5(CNGB1):c.1431C>A (p.Cys477Ter)

SNV
Germline

Chr16:57931820

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA396070841

rs_1468272829

3 SubmittersRCV001073762 RCV001207410 RCV005418986

NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter)

SNV
Germline

Chr16:57967276

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 45
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA8084020

rs_201976061

6 SubmittersRCV001075066 RCV001784637 RCV001384577 RCV005236588

NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg)

SNV
Germline

Chr19:54126567

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
PRPF31-related disorder
Retinitis pigmentosa 11
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA407751847

rs_2073926924

6 SubmittersRCV001724229 RCV001381238 RCV003906174 RCV002497486 RCV001073622

NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter)

SNV
Germline

Chr19:54128175

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 11

Criteria Provided
Multiple Submitters
No Conflicts

CA407753340

rs_1342475527

4 SubmittersRCV001074012 RCV001092517 RCV004796363

NM_001034853.2(RPGR):c.3109G>T (p.Glu1037Ter)

SNV
Germline

ChrX:38285890

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412728993

rs_866524368

2 SubmittersRCV001074990 RCV001251570 RCV003650599

NM_001034853.2(RPGR):c.2917G>T (p.Glu973Ter)

SNV
Germline

ChrX:38286082

Pathogenic

Macular degeneration, X-linked atrophic
Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412729458

rs_2067140471

3 SubmittersRCV000010591 RCV001073899 RCV001251534 RCV002554689

NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter)

SNV
Germline

ChrX:38286304

Pathogenic/Likely pathogenic

Retinal dystrophy
Primary ciliary dyskinesia
Retinitis pigmentosa 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412730005

rs_2067161139

3 SubmittersRCV001074199 RCV002554703 RCV001251621 RCV002464375

NM_001034853.2(RPGR):c.2665G>T (p.Glu889Ter)

SNV
Germline

ChrX:38286334

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412730085

rs_2067163605

3 SubmittersRCV001073958 RCV001251620 RCV002554691

NM_001034853.2(RPGR):c.2488G>T (p.Glu830Ter)

SNV
Germline

ChrX:38286511

Likely pathogenic

Retinitis pigmentosa 3

No Assertion Criteria Provided

CA412730524

rs_1601922510

1 SubmittersRCV001251607

NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter)

SNV
Germline

ChrX:38286520

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA412730546

rs_2067179538

2 SubmittersRCV001075387 RCV001251606 RCV003650600

NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter)

SNV
Germline

ChrX:38286580

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412730684

rs_2067182354

2 SubmittersRCV001075737 RCV001251602 RCV002555916

NM_001034853.2(RPGR):c.2377C>T (p.Gln793Ter)

SNV
Germline

ChrX:38286622

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412730783

rs_2067184023

2 SubmittersRCV001074219 RCV001251596 RCV003537469

NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter)

SNV
Germline

ChrX:38286739

Pathogenic

Retinitis pigmentosa 3
Macular degeneration, X-linked atrophic
X-linked cone-rod dystrophy 1
Retinitis pigmentosa 3
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412731062

rs_2067187550

4 SubmittersRCV001251588 RCV002482156 RCV001075181 RCV002464379

NM_001034853.2(RPGR):c.2251A>T (p.Lys751Ter)

SNV
Germline

ChrX:38286748

Likely pathogenic

Retinitis pigmentosa 3
Retinal dystrophy

Criteria Provided
Single Submitter

CA412731083

rs_2067188111

1 SubmittersRCV001251585 RCV001073293

NM_001034853.2(RPGR):c.2158C>T (p.Gln720Ter)

SNV
Germline

ChrX:38286841

Likely pathogenic

Retinitis pigmentosa 3
Retinal dystrophy

Criteria Provided
Single Submitter

CA412731310

rs_2067191154

1 SubmittersRCV001251581 RCV001075090

NM_001034853.2(RPGR):c.2146G>T (p.Glu716Ter)

SNV
Germline

ChrX:38286853

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412731339

rs_2067191335

3 SubmittersRCV001075438 RCV001251580 RCV003537471 RCV002464380

NM_001034853.2(RPGR):c.2125G>T (p.Glu709Ter)

SNV
Germline

ChrX:38286874

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 3

Criteria Provided
Single Submitter

CA412731393

rs_1305342570

1 SubmittersRCV001073337 RCV001251578

NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter)

SNV
Germline

ChrX:38286893

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412731439

rs_2067193056

3 SubmittersRCV001073828 RCV001251565 RCV002554681

NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter)

SNV
Germline

ChrX:38286940

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412731549

rs_2067194648

2 SubmittersRCV001074138 RCV001251563 RCV002554699

NM_006915.3(RP2):c.768G>C (p.Glu256Asp)

SNV
Germline

ChrX:46854141

Conflicting classifications of pathogenicity

Retinitis pigmentosa 2
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA413040673

rs_1227276668

5 SubmittersRCV001376362 RCV002557901 RCV003890230

NM_001242957.3(MAK):c.485C>T (p.Thr162Ile)

SNV
Germline

Chr6:10808816

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3633712

rs_774229391

3 SubmittersRCV001075870 RCV002298870 RCV001862856

NM_201253.3(CRB1):c.653-1G>T

SNV
Germline

Chr1:197344280

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1311685

rs_760287363

5 SubmittersRCV001593255 RCV001862575 RCV003446611 RCV001074781 RCV003446610

NM_206933.4(USH2A):c.14791+5G>T

SNV
Germline

Chr1:215647517

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA529002106

rs_1235430504

5 SubmittersRCV002557903 RCV003446607 RCV005012539 RCV001074063 RCV003448367

NM_206933.4(USH2A):c.11548+2T>G

SNV
Germline

Chr1:215743175

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344834487

rs_1371160062

3 SubmittersRCV001075750 RCV003446615 RCV002555917

NM_206933.4(USH2A):c.5857+1G>C

SNV
Germline

Chr1:216072888

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344853727

rs_2031604509

4 SubmittersRCV001074953 RCV001862587 RCV003446612

NM_206933.4(USH2A):c.3317-2A>G

SNV
Germline

Chr1:216200123

Pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344869184

rs_2034951427

5 SubmittersRCV001075303 RCV001386858 RCV001828541 RCV003446614

NM_206933.4(USH2A):c.1644+1G>A

SNV
Germline

Chr1:216321882

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA37897594

rs_912980910

4 SubmittersRCV001075057 RCV003446613 RCV001862840

NM_000350.3(ABCA4):c.4849-1G>A

SNV
Germline

Chr1:94021410

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA957439

rs_61750156

6 SubmittersRCV001074206 RCV001235111 RCV004564575 RCV005029679 RCV004733150

NM_000350.3(ABCA4):c.302+4A>C

SNV
Germline

Chr1:94111434

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA645372153

rs_1662599697

5 SubmittersRCV001075244 RCV004689988 RCV005029682 RCV005253712 RCV005093414

NM_006343.3(MERTK):c.2486+6T>A

SNV
Germline

Chr2:112022400

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 38

Criteria Provided
Conflicting Classifications

CA1831840

rs_772204397

3 SubmittersRCV001074445 RCV001300513 RCV005250135

NM_201548.5(CERKL):c.677+1G>A

SNV
Germline

Chr2:181566057

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA61598830

rs_1005130980

3 SubmittersRCV001073678 RCV003669180 RCV003473701

NM_016247.4(IMPG2):c.667-1G>A

SNV
Germline

Chr3:101273743

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 56

Criteria Provided
Multiple Submitters
No Conflicts

CA353868192

rs_1334444660

4 SubmittersRCV001074627 RCV001389859 RCV004800690

NM_000283.4(PDE6B):c.992+1G>A

SNV
Germline

Chr4:654889

Pathogenic/Likely pathogenic

Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA91079178

rs_898144119

4 SubmittersRCV001075786 RCV001257811 RCV001862633 RCV004761927

NM_000440.3(PDE6A):c.2506+7G>A

SNV
Germline

Chr5:149863112

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 43
Condition: not provided

Criteria Provided
Conflicting Classifications

CA563553945

rs_1382186195

3 SubmittersRCV001075219 RCV001376276 RCV002554749

NM_000440.3(PDE6A):c.1620+2T>A

SNV
Germline

Chr5:149896354

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 43
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA361695266

rs_1383907349

3 SubmittersRCV001074262 RCV005036389 RCV002557908

NM_000440.3(PDE6A):c.1407+1G>C

SNV
Germline

Chr5:149898362

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA3504714

rs_781616522

6 SubmittersRCV001073714 RCV001238495 RCV002497487

NM_000440.3(PDE6A):c.999-2A>G

SNV
Germline

Chr5:149907380

Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA361698880

rs_1753232409

4 SubmittersRCV001073306 RCV001268816 RCV002505661

NM_001142800.2(EYS):c.6191+2T>C

SNV
Germline

Chr6:64306968

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA364391653

rs_1769469813

3 SubmittersRCV001073634 RCV001702082

NM_001142800.2(EYS):c.-448+5G>A

SNV
Germline

Chr6:65707130

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA567777563

rs_1175129177

4 SubmittersRCV001073473 RCV001376422 RCV002554664

NM_152419.3(HGSNAT):c.118+5G>A

SNV
Germline

Chr8:43140619

Conflicting classifications of pathogenicity

Retinal dystrophy
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Conflicting Classifications

CA581633298

rs_1174944521

2 SubmittersRCV001073674 RCV002557896

NM_014714.4(IFT140):c.634+5G>A

SNV
Germline

Chr16:1592171

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA620701266

rs_1323647622

5 SubmittersRCV001073818 RCV001376446 RCV001237370

NM_001297.5(CNGB1):c.1373-1G>A

SNV
Germline

Chr16:57931879

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA396071222

rs_1961362638

2 SubmittersRCV001073264 RCV005012533

NM_015629.4(PRPF31):c.239-1G>A

SNV
Germline

Chr19:54121859

Pathogenic/Likely pathogenic

Retinitis pigmentosa 11
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA407749020

rs_2073798309

3 SubmittersRCV001376221 RCV001074296 RCV001862823

NM_015629.4(PRPF31):c.239-1G>T

SNV
Germline

Chr19:54121859

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 11

Criteria Provided
Multiple Submitters
No Conflicts

CA407749026

rs_2073798309

2 SubmittersRCV001073949 RCV002497488

NM_015629.4(PRPF31):c.946-2A>G

SNV
Germline

Chr19:54128071

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA407752784

rs_2073961843

3 SubmittersRCV001075047 RCV002471034 RCV002554738

NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)

SNV
Germline

Chr1:68431135

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340742114

rs_1645823028

4 SubmittersRCV001201914 RCV001089890 RCV002511032 RCV003769013

NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)

SNV
Germline

Chr1:68431292

Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340742376

rs_1645824187

4 SubmittersRCV001102321 RCV001862663 RCV001089891 RCV003769014

NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)

SNV
Germline

Chr1:68444542

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA902499

rs_774309607

4 SubmittersRCV001206190 RCV004801930 RCV005036393 RCV001089896

NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr)

SNV
Germline

Chr1:197328758

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1311629

rs_752559648

4 SubmittersRCV001091027 RCV003473709 RCV005225224

NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)

SNV
Germline

Chr1:197427496

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
CRB1-related disorder
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1312065

rs_765676754

7 SubmittersRCV001092287 RCV001380407 RCV003455432 RCV003455433 RCV004740562 RCV004813747 RCV005012548

NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)

SNV
Germline

Chr1:46192396

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA833406

rs_150877512

7 SubmittersRCV001175511 RCV001810495 RCV001092676 RCV001376853 RCV002554853 RCV005021438

NM_000350.3(ABCA4):c.4383G>A (p.Trp1461Ter)

SNV
Germline

Chr1:94029601

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA341285267

rs_1347261858

4 SubmittersRCV001091945 RCV005236595 RCV005253720

NM_003322.6(TULP1):c.629C>G (p.Ser210Ter)

SNV
Germline

Chr6:35509723

Pathogenic

Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis 15
Retinitis pigmentosa 14

Criteria Provided
Multiple Submitters
No Conflicts

CA363782678

rs_1761158425

4 SubmittersRCV001093079 RCV005432575 RCV005036403

NM_001142800.2(EYS):c.35T>C (p.Met12Thr)

SNV
Germline

Chr6:65495376

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3878143

rs_755947942

6 SubmittersRCV001092365 RCV003469288 RCV002249681 RCV003890233

NM_006269.2(RP1):c.1012C>T (p.Arg338Ter)

SNV
Germline

Chr8:54624894

Pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 1
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA370989092

rs_1805984836

6 SubmittersRCV001092031 RCV001257792 RCV001784642 RCV005418995

NM_014249.4(NR2E3):c.328C>T (p.Gln110Ter)

SNV
Germline

Chr15:71811848

Pathogenic

Condition: not provided
Enhanced S-cone syndrome
Retinitis pigmentosa 37
Enhanced S-cone syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393032842

rs_2054184757

4 SubmittersRCV001091350 RCV005012547 RCV003469283

NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)

SNV
Germline

Chr17:6428419

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 4
Retinitis pigmentosa
Leber congenital amaurosis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA8328532

rs_201883601

8 SubmittersRCV001090635 RCV002222668 RCV001172396 RCV002489728

NM_015629.4(PRPF31):c.466C>T (p.Gln156Ter)

SNV
Germline

Chr19:54123499

Pathogenic

Condition: not provided
Retinitis pigmentosa 11

Criteria Provided
Multiple Submitters
No Conflicts

CA407750279

rs_2073842959

2 SubmittersRCV001091274 RCV005253718

NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)

SNV
Germline

Chr1:216199752

Pathogenic/Likely pathogenic

Condition: not provided
USH2A-related disorder
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344867902

rs_2034938852

5 SubmittersRCV001231261 RCV001095691 RCV003455443 RCV003455444 RCV005021440

NM_004698.4(PRPF3):c.786G>A (p.Gly262=)

SNV
Germline

Chr1:150334992

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1075499

rs_782088671

2 SubmittersRCV001100609 RCV002554966

NM_004698.4(PRPF3):c.1042C>T (p.Leu348=)

SNV
Germline

Chr1:150338166

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA420686089

rs_1489740997

2 SubmittersRCV001100884 RCV003660843

NM_004698.4(PRPF3):c.1847A>T (p.Asp616Val)

SNV
Germline

Chr1:150349160

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1075722

rs_587704985

2 SubmittersRCV001097138 RCV002069637

NM_022367.4(SEMA4A):c.712C>T (p.Pro238Ser)

SNV
Germline

Chr1:156160931

Conflicting classifications of pathogenicity

Cone-rod dystrophy 10
Retinitis pigmentosa
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA1155134

rs_201715448

3 SubmittersRCV001099275 RCV001099274 RCV003890240 RCV004857760

NM_022367.4(SEMA4A):c.994G>A (p.Gly332Arg)

SNV
Germline

Chr1:156162954

Conflicting classifications of pathogenicity

Cone-rod dystrophy 10
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1155242

rs_144475266

2 SubmittersRCV001101270 RCV001101271 RCV001222142

NM_022367.4(SEMA4A):c.1646G>A (p.Ser549Asn)

SNV
Germline

Chr1:156175609

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 10
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1155423

rs_199696322

3 SubmittersRCV001097621 RCV001097622 RCV001343032 RCV003890238

NM_022367.4(SEMA4A):c.*102C>G

SNV
Germline

Chr1:156177099

Conflicting classifications of pathogenicity

Cone-rod dystrophy 10
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA31005020

rs_76347207

1 SubmittersRCV001099494 RCV001099495

NM_022367.4(SEMA4A):c.*334C>T

SNV
Germline

Chr1:156177331

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 10

Criteria Provided
Conflicting Classifications

CA15090186

rs_148852472

1 SubmittersRCV001101488 RCV001101487

NM_201253.3(CRB1):c.265C>T (p.Pro89Ser)

SNV
Germline

Chr1:197328616

Conflicting classifications of pathogenicity

Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1311602

rs_145525029

3 SubmittersRCV001100911 RCV001100913 RCV001100912 RCV002554969 RCV003160630

NM_201253.3(CRB1):c.867G>A (p.Thr289=)

SNV
Germline

Chr1:197347358

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa
Leber congenital amaurosis
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1311749

rs_147244321

4 SubmittersRCV001317879 RCV001100737 RCV001833700 RCV001100736 RCV001100738 RCV003890246

NM_201253.3(CRB1):c.1878T>C (p.Ala626=)

SNV
Germline

Chr1:197421706

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA422808588

rs_1413323140

2 SubmittersRCV001100836 RCV001101090 RCV001101091 RCV001443187

NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)

SNV
Germline

Chr1:197421884

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA344033795

rs_1204363918

7 SubmittersRCV001097349 RCV001097350 RCV001097351 RCV001234545 RCV001700696 RCV001828549 RCV003455452

NM_206933.4(USH2A):c.4627+641G>A

SNV
Germline

Chr1:216174611

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA37492377

rs_146153666

2 SubmittersRCV001100306 RCV001100307 RCV001840783

NM_206933.4(USH2A):c.4627+48A>T

SNV
Germline

Chr1:216175204

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1395668

rs_74874838

2 SubmittersRCV001100415 RCV001100416 RCV001550447

NM_206933.4(USH2A):c.4627+10T>C

SNV
Germline

Chr1:216175242

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1395681

rs_148657311

2 SubmittersRCV001395518 RCV001102383 RCV001102382

NM_206933.4(USH2A):c.3660A>G (p.Val1220=)

SNV
Germline

Chr1:216199778

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA423431409

rs_2034940102

2 SubmittersRCV001098832 RCV001098831 RCV001421393

NM_206933.4(USH2A):c.1704C>T (p.Tyr568=)

SNV
Germline

Chr1:216292311

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396421

rs_766038321

3 SubmittersRCV001101106 RCV001101107 RCV001578843 RCV002069695

NM_205861.3(DHDDS):c.855G>T (p.Gly285=)

SNV
Germline

Chr1:26468984

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 59

Criteria Provided
Conflicting Classifications

CA19777123

rs_928446379

2 SubmittersRCV001099447 RCV001426757

NM_000329.3(RPE65):c.807T>C (p.Ser269=)

SNV
Germline

Chr1:68439242

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

CA902391

rs_774896870

2 SubmittersRCV001098757 RCV001098758 RCV001405985

NM_000329.3(RPE65):c.576T>A (p.Ile192=)

SNV
Germline

Chr1:68440920

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA23572062

rs_747122876

3 SubmittersRCV001100590 RCV001100591 RCV003769066 RCV005243469

NM_000329.3(RPE65):c.366C>T (p.Tyr122=)

SNV
Germline

Chr1:68444660

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

CA418282754

rs_1479443954

2 SubmittersRCV001097117 RCV001097118 RCV001444955

NM_014053.4(FLVCR1):c.1525+13G>A

SNV
Germline

Chr1:212889270

Conflicting classifications of pathogenicity

Condition: not provided
Posterior column ataxia-retinitis pigmentosa syndrome

Criteria Provided
Conflicting Classifications

CA1386168

rs_377087497

2 SubmittersRCV002069706 RCV001101915

NM_206933.4(USH2A):c.1972-4C>T

SNV
Germline

Chr1:216251102

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396337

rs_772294505

2 SubmittersRCV001099032 RCV001099031 RCV001506006

NM_002900.3(RBP3):c.579C>T (p.Ile193=)

SNV
Germline

Chr10:47349063

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487759

rs_140931492

2 SubmittersRCV001106852 RCV001483780

NM_002900.3(RBP3):c.1647G>A (p.Ala549=)

SNV
Germline

Chr10:47350131

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487467

rs_146715054

2 SubmittersRCV001106780 RCV005056892

NM_002900.3(RBP3):c.1776C>T (p.Thr592=)

SNV
Germline

Chr10:47350260

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487435

rs_139452142

2 SubmittersRCV001105650 RCV002067783

NM_002900.3(RBP3):c.2184C>T (p.Tyr728=)

SNV
Germline

Chr10:47350668

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487339

rs_34460089

2 SubmittersRCV001108853 RCV001457795

NM_002900.3(RBP3):c.3363A>G (p.Glu1121=)

SNV
Germline

Chr10:47355493

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA469571216

rs_201472530

2 SubmittersRCV001105542 RCV002556077

NM_001012720.2(RGR):c.612G>A (p.Gly204=)

SNV
Germline

Chr10:84254425

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5581505

rs_749839913

2 SubmittersRCV001107995 RCV001462767

NM_001012720.2(RGR):c.666C>T (p.Leu222=)

SNV
Germline

Chr10:84257928

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5581540

rs_575867273

3 SubmittersRCV001107996 RCV001490153 RCV003890252

NM_001012720.2(RGR):c.750C>A (p.Pro250=)

SNV
Germline

Chr10:84258513

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5581580

rs_748553756

2 SubmittersRCV001102768 RCV001448160

NM_004183.4(BEST1):c.822C>T (p.Pro274=)

SNV
Germline

Chr11:61958253

Conflicting classifications of pathogenicity

Autosomal dominant vitreoretinochoroidopathy
Retinitis pigmentosa
Vitelliform macular dystrophy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6040863

rs_759678509

2 SubmittersRCV001103401 RCV001103400 RCV001103399 RCV001465607

NM_004183.4(BEST1):c.991C>T (p.Arg331Trp)

SNV
Germline

Chr11:61959934

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Autosomal dominant vitreoretinochoroidopathy
Vitelliform macular dystrophy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6040962

rs_757536535

3 SubmittersRCV001105322 RCV001105320 RCV001105321 RCV001320312

NM_004183.4(BEST1):c.*45T>C

SNV
Germline

Chr11:61964167

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Vitelliform macular dystrophy 2
Autosomal dominant vitreoretinochoroidopathy

Criteria Provided
Conflicting Classifications

CA6041180

rs_201586629

1 SubmittersRCV001105503 RCV001105504 RCV001105505

NM_000327.4(ROM1):c.422T>C (p.Leu141Ser)

SNV
Germline

Chr11:62613703

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6049738

rs_190642059

3 SubmittersRCV001106826 RCV001856431 RCV003890250

NM_000327.4(ROM1):c.703G>A (p.Ala235Thr)

SNV
Germline

Chr11:62614370

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6049812

rs_149255362

2 SubmittersRCV001107486 RCV001204557

NM_001012720.2(RGR):c.745-13T>C

SNV
Germline

Chr10:84258495

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5581572

rs_760426665

2 SubmittersRCV001102767 RCV002067775

NM_004183.4(BEST1):c.482-15C>T

SNV
Germline

Chr11:61956829

Conflicting classifications of pathogenicity

Vitelliform macular dystrophy 2
Retinitis pigmentosa
Autosomal dominant vitreoretinochoroidopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6040764

rs_201010315

2 SubmittersRCV001105227 RCV001105228 RCV001105229 RCV001513069

NM_001354768.3(NRL):c.645C>T (p.Tyr215=)

SNV
Germline

Chr14:24081305

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA257868054

rs_936140196

2 SubmittersRCV001493310 RCV001112196

NM_018418.5(SPATA7):c.-95C>T

SNV
Germline

Chr14:88385724

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA264502513

rs_114796215

1 SubmittersRCV001115839 RCV001115840

NM_018418.5(SPATA7):c.937G>A (p.Ala313Thr)

SNV
Germline

Chr14:88429372

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7298655

rs_143812944

4 SubmittersRCV001119004 RCV001120975 RCV002558177 RCV004693732

NM_018418.5(SPATA7):c.1476C>A (p.Phe492Leu)

SNV
Germline

Chr14:88438098

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7298818

rs_750676893

3 SubmittersRCV001119099 RCV001119100 RCV003890266

NM_144596.4(TTC8):c.*93G>A

SNV
Germline

Chr14:88877503

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 8
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA264576056

rs_116740320

1 SubmittersRCV001116376 RCV001116377

NM_014249.4(NR2E3):c.24G>A (p.Leu8=)

SNV
Germline

Chr15:71810767

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Enhanced S-cone syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA490998028

rs_2054171622

2 SubmittersRCV001116727 RCV001116728 RCV001446646

NM_014249.4(NR2E3):c.348C>T (p.Asp116=)

SNV
Germline

Chr15:71811868

Conflicting classifications of pathogenicity

Enhanced S-cone syndrome
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7640287

rs_374499278

3 SubmittersRCV001116839 RCV001116838 RCV001298491

NM_014249.4(NR2E3):c.925C>T (p.Arg309Trp)

SNV
Germline

Chr15:71813566

Conflicting classifications of pathogenicity

Retinitis pigmentosa 37
Condition: not provided
Enhanced S-cone syndrome

Criteria Provided
Conflicting Classifications

CA7640434

rs_774102273

3 SubmittersRCV001115329 RCV001247193 RCV001121911

NM_000326.5(RLBP1):c.*217A>C

SNV
Germline

Chr15:89210068

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Pigmentary retinal dystrophy
Newfoundland cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA274531485

rs_150636501

1 SubmittersRCV001120116 RCV001120115 RCV001120117

NM_000326.5(RLBP1):c.924C>A (p.Pro308=)

SNV
Germline

Chr15:89210315

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Condition: not provided
Pigmentary retinal dystrophy

Criteria Provided
Conflicting Classifications

CA492073639

rs_144615495

2 SubmittersRCV001115518 RCV001115517 RCV001497408 RCV001116936

NM_000326.5(RLBP1):c.105C>T (p.Gly35=)

SNV
Germline

Chr15:89218601

Conflicting classifications of pathogenicity

Pigmentary retinal dystrophy
Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7722395

rs_373881009

2 SubmittersRCV001117122 RCV001117121 RCV001117123 RCV001514876

NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)

SNV
Germline

Chr16:1510979

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7812775

rs_142106374

4 SubmittersRCV001120218 RCV001784659 RCV002505695

NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)

SNV
Germline

Chr16:1523883

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7813255

rs_201884886

5 SubmittersRCV001118773 RCV002482220 RCV003246700 RCV003890263

NM_014714.4(IFT140):c.2692G>A (p.Val898Met)

SNV
Germline

Chr16:1525963

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7813527

rs_369457143

3 SubmittersRCV001117224 RCV005021450

NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)

SNV
Germline

Chr16:1526010

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7813547

rs_200394007

4 SubmittersRCV001118859 RCV003890264 RCV002480491

NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr)

SNV
Germline

Chr16:1584267

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7814373

rs_373106880

5 SubmittersRCV001118410 RCV002497529 RCV003890262 RCV004629457

NM_014714.4(IFT140):c.1306G>T (p.Val436Phe)

SNV
Germline

Chr16:1584270

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814375

rs_764912104

3 SubmittersRCV001118411 RCV002491368

NM_014714.4(IFT140):c.850G>A (p.Ala284Thr)

SNV
Germline

Chr16:1587985

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814531

rs_778404277

3 SubmittersRCV001121927 RCV002497531

NM_014714.4(IFT140):c.728A>G (p.Glu243Gly)

SNV
Germline

Chr16:1589687

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7814593

rs_539181813

3 SubmittersRCV001115344 RCV002482213

NM_001297.5(CNGB1):c.3330C>T (p.Asn1110=)

SNV
Germline

Chr16:57887987

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8082593

rs_566102644

2 SubmittersRCV001119644 RCV002556555

NM_001297.5(CNGB1):c.2853C>T (p.Asp951=)

SNV
Germline

Chr16:57901567

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8082800

rs_7190978

2 SubmittersRCV001121640 RCV001399554

NM_001297.5(CNGB1):c.2475C>T (p.Tyr825=)

SNV
Germline

Chr16:57911770

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8082999

rs_200934249

5 SubmittersRCV001119761 RCV001511497 RCV001699509

NM_001297.5(CNGB1):c.2361C>T (p.Tyr787=)

SNV
Germline

Chr16:57912938

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA281596912

rs_367678786

2 SubmittersRCV001121742 RCV001425062

NM_001297.5(CNGB1):c.1863G>A (p.Val621=)

SNV
Germline

Chr16:57919193

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083254

rs_753172645

2 SubmittersRCV001118325 RCV001505644

NM_001297.5(CNGB1):c.1179C>T (p.Asp393=)

SNV
Germline

Chr16:57940264

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083519

rs_377042647

4 SubmittersRCV001115274 RCV001700974 RCV001726432

NM_001297.5(CNGB1):c.713G>A (p.Gly238Asp)

SNV
Germline

Chr16:57959936

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8083714

rs_201703193

3 SubmittersRCV001119954 RCV001241706 RCV003890269

NM_001297.5(CNGB1):c.585G>A (p.Ala195=)

SNV
Germline

Chr16:57960064

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083739

rs_530319460

2 SubmittersRCV001119956 RCV002069949

NM_001297.5(CNGB1):c.376G>C (p.Ala126Pro)

SNV
Germline

Chr16:57962979

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA8083878

rs_200332871

3 SubmittersRCV001121945 RCV001519030 RCV003953499

NM_001297.5(CNGB1):c.292C>T (p.Pro98Ser)

SNV
Germline

Chr16:57963063

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083895

rs_570828500

2 SubmittersRCV001115369 RCV001231157

NM_001297.5(CNGB1):c.123G>A (p.Pro41=)

SNV
Germline

Chr16:57967164

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083999

rs_41482547

2 SubmittersRCV001118517 RCV001511921

NM_014249.4(NR2E3):c.349+15G>A

SNV
Germline

Chr15:71811884

Conflicting classifications of pathogenicity

Enhanced S-cone syndrome
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA618960711

rs_1157654626

2 SubmittersRCV001118294 RCV001118293 RCV003769162

NM_000326.5(RLBP1):c.525+14C>T

SNV
Germline

Chr15:89215046

Conflicting classifications of pathogenicity

Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Pigmentary retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA716901417

rs_1173705310

2 SubmittersRCV001117039 RCV001117038 RCV001117037 RCV003769155

NM_001297.5(CNGB1):c.3462+8G>T

SNV
Germline

Chr16:57887847

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8082556

rs_368962905

2 SubmittersRCV001118102 RCV002069907

NM_001297.5(CNGB1):c.3242+9C>A

SNV
Germline

Chr16:57897388

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8082637

rs_371348182

2 SubmittersRCV001119645 RCV002069943

NM_001297.5(CNGB1):c.2167-12C>T

SNV
Germline

Chr16:57916191

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083139

rs_772769638

2 SubmittersRCV001116874 RCV002069888

NM_001297.5(CNGB1):c.1957+11G>A

SNV
Germline

Chr16:57919088

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083232

rs_190910346

2 SubmittersRCV001116876 RCV001509719

NM_001297.5(CNGB1):c.1373-3C>A

SNV
Germline

Chr16:57931881

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083442

rs_564200357

2 SubmittersRCV001121844 RCV001477946

NM_006445.4(PRPF8):c.6657G>A (p.Thr2219=)

SNV
Germline

Chr17:1651304

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8271114

rs_200741294

2 SubmittersRCV001122661 RCV001480043

NM_006445.4(PRPF8):c.6447G>A (p.Pro2149=)

SNV
Germline

Chr17:1651711

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8271181

rs_140315637

2 SubmittersRCV001123761 RCV002070020

NM_006445.4(PRPF8):c.6120G>A (p.Thr2040=)

SNV
Germline

Chr17:1653884

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8271257

rs_761118301

3 SubmittersRCV001126416 RCV003890273 RCV002556749

NM_006445.4(PRPF8):c.5841C>T (p.Asn1947=)

SNV
Germline

Chr17:1655496

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8271317

rs_142499204

2 SubmittersRCV001126417 RCV001392244

NM_006445.4(PRPF8):c.5538C>T (p.Ala1846=)

SNV
Germline

Chr17:1656729

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8271385

rs_372925838

2 SubmittersRCV001126419 RCV001517292

NM_006445.4(PRPF8):c.3699C>T (p.Asp1233=)

SNV
Germline

Chr17:1673156

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA8271807

rs_753683243

2 SubmittersRCV001432156 RCV001122772

NM_006445.4(PRPF8):c.3666G>A (p.Lys1222=)

SNV
Germline

Chr17:1673189

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8271814

rs_549397527

2 SubmittersRCV001123861 RCV002556682

NM_006445.4(PRPF8):c.3252C>G (p.Pro1084=)

SNV
Germline

Chr17:1674489

Conflicting classifications of pathogenicity

Retinitis pigmentosa
PRPF8-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8271942

rs_746764862

3 SubmittersRCV001123864 RCV003953501 RCV001432648

NM_006445.4(PRPF8):c.3084T>C (p.Tyr1028=)

SNV
Germline

Chr17:1674657

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8271959

rs_75163090

6 SubmittersRCV001126504 RCV001796370 RCV001432777 RCV003890274

NM_006445.4(PRPF8):c.3081A>T (p.Ser1027=)

SNV
Germline

Chr17:1674660

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA8271961

rs_201573889

2 SubmittersRCV001422691 RCV001126505

NM_006445.4(PRPF8):c.1311C>T (p.Ala437=)

SNV
Germline

Chr17:1679389

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8272369

rs_747870802

2 SubmittersRCV001123944 RCV002558223

NM_014336.5(AIPL1):c.970C>A (p.Arg324=)

SNV
Germline

Chr17:6425645

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA8328339

rs_375096209

2 SubmittersRCV001124294 RCV001124293

NM_014336.5(AIPL1):c.939G>A (p.Ala313=)

SNV
Germline

Chr17:6425676

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA287323813

rs_200401166

2 SubmittersRCV001126961 RCV001126960

NM_014336.5(AIPL1):c.900G>C (p.Ala300=)

SNV
Germline

Chr17:6425715

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA8328362

rs_373590751

2 SubmittersRCV001126962 RCV001126963

NM_001077620.3(PRCD):c.114C>T (p.Ser38=)

SNV
Germline

Chr17:76540544

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501890384

rs_2074979029

2 SubmittersRCV001126187 RCV003660851

NM_002602.4(PDE6G):c.117G>C (p.Lys39Asn)

SNV
Germline

Chr17:81653189

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8839061

rs_181137206

2 SubmittersRCV001123210 RCV002070014

NM_002602.4(PDE6G):c.81C>T (p.Pro27=)

SNV
Germline

Chr17:81653225

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8839068

rs_546019967

2 SubmittersRCV001123211 RCV002070015

NM_002602.4(PDE6G):c.51C>T (p.Ala17=)

SNV
Germline

Chr17:81653255

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8839074

rs_775425650

4 SubmittersRCV001123212 RCV001699510 RCV001423208

NM_006445.4(PRPF8):c.6511-3T>C

SNV
Germline

Chr17:1651556

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8271153

rs_199665387

3 SubmittersRCV001123760 RCV001236871 RCV005436994

NM_006445.4(PRPF8):c.5794-11T>C

SNV
Germline

Chr17:1655554

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8271323

rs_187602609

2 SubmittersRCV001126418 RCV002070068

NM_006445.4(PRPF8):c.3061-9T>C

SNV
Germline

Chr17:1674689

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1139665053

rs_1912518161

2 SubmittersRCV001126507 RCV002070069

NM_006445.4(PRPF8):c.1720-7A>G

SNV
Germline

Chr17:1678659

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8272263

rs_200224854

3 SubmittersRCV001122872 RCV001413121

NM_006445.4(PRPF8):c.1409+13A>G

SNV
Germline

Chr17:1679278

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8272355

rs_763003164

2 SubmittersRCV001122875 RCV002070010

NM_006445.4(PRPF8):c.101-8C>T

SNV
Germline

Chr17:1683709

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8272712

rs_369806898

2 SubmittersRCV001126622 RCV001459557

NM_001077620.3(PRCD):c.74+14C>T

SNV
Germline

Chr17:76540229

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8787821

rs_200645008

2 SubmittersRCV001126185 RCV001513351

NM_006343.3(MERTK):c.756A>C (p.Pro252=)

SNV
Germline

Chr2:111947566

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
MERTK-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1831142

rs_3761702

4 SubmittersRCV001129154 RCV001427984 RCV003973094 RCV003890278

NM_006343.3(MERTK):c.2202C>T (p.Asp734=)

SNV
Germline

Chr2:112021434

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA428276168

rs_1323896467

2 SubmittersRCV001131962 RCV002070541

NM_006343.3(MERTK):c.2590G>T (p.Val864Phe)

SNV
Germline

Chr2:112028454

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831930

rs_557004700

2 SubmittersRCV001131968 RCV001482387

NM_000554.6(CRX):c.460A>G (p.Thr154Ala)

SNV
Germline

Chr19:47839527

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA9544496

rs_763651232

4 SubmittersRCV001131570 RCV001131571 RCV001132600 RCV002558276 RCV003890279

NM_000554.6(CRX):c.606C>T (p.Cys202=)

SNV
Germline

Chr19:47839673

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Conflicting Classifications

CA9544530

rs_764877352

2 SubmittersRCV001129005 RCV001129007 RCV001129006 RCV002558263

NM_000554.6(CRX):c.765C>T (p.Gly255=)

SNV
Germline

Chr19:47839832

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
CRX-related disorder

Criteria Provided
Conflicting Classifications

CA9544567

rs_145913500

3 SubmittersRCV001131694 RCV001131695 RCV001131696 RCV001213963 RCV003945847

NM_000554.6(CRX):c.*16T>C

SNV
Germline

Chr19:47839983

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

CA9544594

rs_371964860

1 SubmittersRCV001132708 RCV001132707 RCV001132709

NM_000554.6(CRX):c.*117T>A

SNV
Germline

Chr19:47840084

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA309213375

rs_574641672

1 SubmittersRCV001129135 RCV001129136 RCV001129137

NM_000554.6(CRX):c.*366C>T

SNV
Germline

Chr19:47840333

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA309213604

rs_560185740

1 SubmittersRCV001132803 RCV001132804 RCV001136199

NM_000554.6(CRX):c.*1684G>A

SNV
Germline

Chr19:47841651

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA309214652

rs_141564522

1 SubmittersRCV001132283 RCV001133217 RCV001132282

NM_000554.6(CRX):c.*2040G>A

SNV
Germline

Chr19:47842007

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA309215056

rs_139340702

1 SubmittersRCV001129660 RCV001129661 RCV001129662

NM_015629.4(PRPF31):c.429C>T (p.Gly143=)

SNV
Germline

Chr19:54123462

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309324681

rs_142604510

2 SubmittersRCV001129018 RCV003769237

NM_015629.4(PRPF31):c.510C>T (p.Thr170=)

SNV
Germline

Chr19:54123543

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA309324733

rs_145699524

3 SubmittersRCV001129021 RCV001425060 RCV003890277

NM_015629.4(PRPF31):c.582G>A (p.Ala194=)

SNV
Germline

Chr19:54123803

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
PRPF31-related disorder

Criteria Provided
Conflicting Classifications

CA309325164

rs_757374570

3 SubmittersRCV002070537 RCV001131698 RCV003928730

NM_015629.4(PRPF31):c.594C>T (p.Asn198=)

SNV
Germline

Chr19:54123815

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
PRPF31-related disorder

Criteria Provided
Conflicting Classifications

CA309325195

rs_138269127

3 SubmittersRCV001131699 RCV002070538 RCV004757377

NM_015629.4(PRPF31):c.921T>C (p.Ser307=)

SNV
Germline

Chr19:54126593

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309327963

rs_368242197

2 SubmittersRCV001131701 RCV002070539

NM_015629.4(PRPF31):c.1239C>T (p.Asn413=)

SNV
Germline

Chr19:54129149

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA309330569

rs_371720691

3 SubmittersRCV002556895 RCV001136117 RCV003890280

NM_015629.4(PRPF31):c.177+4A>T

SNV
Germline

Chr19:54118459

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA407790175

rs_368136864

2 SubmittersRCV002556892 RCV001135992

NM_015629.4(PRPF31):c.239-12G>A

SNV
Germline

Chr19:54121848

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309323414

rs_377086372

2 SubmittersRCV001135993 RCV001509813

NM_015629.4(PRPF31):c.420+11A>G

SNV
Germline

Chr19:54122605

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309324057

rs_371910233

2 SubmittersRCV001135994 RCV003769642

NM_015629.4(PRPF31):c.421-9C>T

SNV
Germline

Chr19:54123445

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309324676

rs_201443830

2 SubmittersRCV001129017 RCV002070502

NM_201548.5(CERKL):c.1596G>A (p.Lys532=)

SNV
Germline

Chr2:181538187

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

CA2010367

rs_752334385

3 SubmittersRCV001138148 RCV001466444 RCV001833717

NM_201548.5(CERKL):c.1237G>T (p.Val413Leu)

SNV
Germline

Chr2:181547649

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 26
Condition: not provided
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2010496

rs_145489428

5 SubmittersRCV001138579 RCV001833719 RCV001239537 RCV002556958 RCV004813791

NM_201548.5(CERKL):c.783T>C (p.Pro261=)

SNV
Germline

Chr2:181558603

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

CA2010663

rs_77741297

6 SubmittersRCV001141155 RCV001522803 RCV001828568

NM_201548.5(CERKL):c.180C>T (p.Asp60=)

SNV
Germline

Chr2:181656827

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430408457

rs_1688188231

2 SubmittersRCV001138251 RCV002070624

NM_000541.5(SAG):c.-69G>A

SNV
Germline

Chr2:233307982

Conflicting classifications of pathogenicity

Oguchi disease
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA67531255

rs_189763324

1 SubmittersRCV001139460 RCV001139459

NM_000541.5(SAG):c.777C>T (p.Tyr259=)

SNV
Germline

Chr2:233331683

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Oguchi disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2174524

rs_766104513

3 SubmittersRCV001142173 RCV001142174 RCV002559378 RCV004960488

NM_144631.6(ZNF513):c.1443G>A (p.Thr481=)

SNV
Germline

Chr2:27377728

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1577802

rs_566881806

2 SubmittersRCV001142624 RCV002032353

NM_144631.6(ZNF513):c.1224C>T (p.Arg408=)

SNV
Germline

Chr2:27377947

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1577835

rs_61995753

2 SubmittersRCV001137872 RCV001516578

NM_144631.6(ZNF513):c.984T>A (p.Gly328=)

SNV
Germline

Chr2:27378187

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1577885

rs_369469017

2 SubmittersRCV001137874 RCV001856760

NM_144631.6(ZNF513):c.900C>T (p.Cys300=)

SNV
Germline

Chr2:27378271

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1577904

rs_367962941

2 SubmittersRCV001137876 RCV001477097

NM_144631.6(ZNF513):c.780G>A (p.Ala260=)

SNV
Germline

Chr2:27378486

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1577968

rs_554115332

3 SubmittersRCV001140116 RCV002070673 RCV003890289

NM_144631.6(ZNF513):c.537C>T (p.Arg179=)

SNV
Germline

Chr2:27378729

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1578036

rs_374192541

2 SubmittersRCV001140877 RCV002070689

NM_144631.6(ZNF513):c.219T>C (p.Ser73=)

SNV
Germline

Chr2:27379047

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1578100

rs_148351779

3 SubmittersRCV001140882 RCV002070690 RCV003890290

NM_001029883.3(PCARE):c.3722C>T (p.Ser1241Phe)

SNV
Germline

Chr2:29065014

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1591841

rs_78471512

3 SubmittersRCV001141302 RCV001205429 RCV003890291

NM_001029883.3(PCARE):c.3531G>A (p.Arg1177=)

SNV
Germline

Chr2:29070731

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1591903

rs_189904739

3 SubmittersRCV001136590 RCV002070589 RCV003890283

NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu)

SNV
Germline

Chr2:29070858

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1591945

rs_756152942

4 SubmittersRCV001344515 RCV003890284 RCV001136594 RCV004032305

NM_001029883.3(PCARE):c.3307A>G (p.Arg1103Gly)

SNV
Germline

Chr2:29070955

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1591967

rs_375443061

2 SubmittersRCV001138825 RCV001469494

NM_001029883.3(PCARE):c.2898A>C (p.Pro966=)

SNV
Germline

Chr2:29071364

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1592088

rs_187119693

3 SubmittersRCV001141418 RCV001468701 RCV003890292

NM_001029883.3(PCARE):c.2874C>T (p.Ile958=)

SNV
Germline

Chr2:29071388

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1592096

rs_748746281

2 SubmittersRCV001143261 RCV002070723

NM_001029883.3(PCARE):c.2539G>C (p.Glu847Gln)

SNV
Germline

Chr2:29071723

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1592176

rs_541757069

2 SubmittersRCV001511143 RCV001136692

NM_001029883.3(PCARE):c.2424G>A (p.Leu808=)

SNV
Germline

Chr2:29071838

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1592207

rs_371909714

2 SubmittersRCV001136694 RCV001515253

NM_001029883.3(PCARE):c.1775C>T (p.Thr592Met)

SNV
Germline

Chr2:29072487

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1592357

rs_202166083

3 SubmittersRCV001141533 RCV002557008 RCV003890293

NM_001029883.3(PCARE):c.1545A>G (p.Gln515=)

SNV
Germline

Chr2:29072717

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1592403

rs_200427237

3 SubmittersRCV001143364 RCV001522206

NM_001201543.2(FAM161A):c.159A>G (p.Lys53=)

SNV
Germline

Chr2:61853883

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA426212420

rs_1184952883

2 SubmittersRCV001142843 RCV001462328

NM_014014.5(SNRNP200):c.5346G>A (p.Ser1782=)

SNV
Germline

Chr2:96278689

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1777985

rs_756239767

2 SubmittersRCV001138855 RCV002559339

NM_014014.5(SNRNP200):c.3888C>A (p.Pro1296=)

SNV
Germline

Chr2:96286426

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1778355

rs_143175658

2 SubmittersRCV001136708 RCV001478181

NM_014014.5(SNRNP200):c.2122G>A (p.Val708Ile)

SNV
Germline

Chr2:96293010

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1778773

rs_191245006

2 SubmittersRCV001141554 RCV001227074

NM_014014.5(SNRNP200):c.781C>A (p.Arg261=)

SNV
Germline

Chr2:96298916

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA427506506

rs_746654808

2 SubmittersRCV001143387 RCV002557053

NM_014014.5(SNRNP200):c.423T>C (p.Ala141=)

SNV
Germline

Chr2:96301675

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1779186

rs_140702204

2 SubmittersRCV001517897 RCV001136812

NM_014014.5(SNRNP200):c.87C>T (p.Asp29=)

SNV
Germline

Chr2:96304827

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
SNRNP200-related disorder

Criteria Provided
Conflicting Classifications

CA1779263

rs_140629902

3 SubmittersRCV001139055 RCV001472850 RCV003953513

NM_006899.5(IDH3B):c.900C>T (p.Tyr300=)

SNV
Germline

Chr20:2660045

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9735158

rs_201237064

2 SubmittersRCV001141015 RCV001449437

NM_012469.4(PRPF6):c.61C>T (p.Leu21=)

SNV
Germline

Chr20:63981306

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9971777

rs_775751428

2 SubmittersRCV001142120 RCV001522808

NM_012469.4(PRPF6):c.282C>T (p.Tyr94=)

SNV
Germline

Chr20:63984948

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9971859

rs_758722968

2 SubmittersRCV001137385 RCV002070606

NM_012469.4(PRPF6):c.2349C>T (p.Ser783=)

SNV
Germline

Chr20:64028487

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA9972450

rs_138601260

2 SubmittersRCV002070610 RCV001137499

NM_012469.4(PRPF6):c.2607G>A (p.Lys869=)

SNV
Germline

Chr20:64031978

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9972533

rs_201168471

2 SubmittersRCV001137501 RCV001520924

NM_012469.4(PRPF6):c.*1T>C

SNV
Germline

Chr20:64032994

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA636635951

rs_1167495795

2 SubmittersRCV001139714 RCV003890288

NM_201548.5(CERKL):c.1539-5T>A

SNV
Germline

Chr2:181538249

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2010386

rs_371788033

2 SubmittersRCV001430838 RCV001138151

NM_201548.5(CERKL):c.895+13C>T

SNV
Germline

Chr2:181549621

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
CERKL-related disorder

Criteria Provided
Conflicting Classifications

CA2010632

rs_187829374

3 SubmittersRCV001141154 RCV001460917 RCV004756176

NM_000541.5(SAG):c.75+7G>T

SNV
Germline

Chr2:233309271

Conflicting classifications of pathogenicity

Oguchi disease
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA431821697

rs_753990994

2 SubmittersRCV001140234 RCV001140235 RCV002070674

NM_001201543.2(FAM161A):c.1583+13G>A

SNV
Germline

Chr2:61839408

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1679109

rs_200160715

2 SubmittersRCV001140900 RCV001858921

NM_001201543.2(FAM161A):c.1583+11A>G

SNV
Germline

Chr2:61839410

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1679111

rs_368458156

2 SubmittersRCV001142751 RCV002070711

NM_014014.5(SNRNP200):c.6093-6C>T

SNV
Germline

Chr2:96276991

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
SNRNP200-related disorder

Criteria Provided
Conflicting Classifications

CA1777812

rs_202243080

3 SubmittersRCV001143179 RCV001428951 RCV003906260

NM_014014.5(SNRNP200):c.3640-15T>C

SNV
Germline

Chr2:96286892

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1778405

rs_200824314

2 SubmittersRCV001136709 RCV001513663

NM_014014.5(SNRNP200):c.574+12C>T

SNV
Germline

Chr2:96301512

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1779168

rs_761734438

2 SubmittersRCV001136811 RCV002070594

NM_006899.5(IDH3B):c.1010+8A>G

SNV
Germline

Chr20:2659691

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9735115

rs_200242149

2 SubmittersRCV001138441 RCV002070627

NM_006899.5(IDH3B):c.338-10G>T

SNV
Germline

Chr20:2660979

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9735311

rs_754403242

2 SubmittersRCV001142859 RCV003769682

NM_006899.5(IDH3B):c.337+11C>T

SNV
Germline

Chr20:2663435

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9735323

rs_117928032

2 SubmittersRCV001142860 RCV001512786

NM_012469.4(PRPF6):c.438+15C>T

SNV
Germline

Chr20:63993500

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA9971892

rs_371384048

2 SubmittersRCV002070607 RCV001137387

NM_012469.4(PRPF6):c.439-4C>T

SNV
Germline

Chr20:63994912

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9971912

rs_371780214

2 SubmittersRCV001137388 RCV002556923

NM_012469.4(PRPF6):c.867-6T>C

SNV
Germline

Chr20:63999597

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9972036

rs_200951432

2 SubmittersRCV001139620 RCV001395542

NM_012469.4(PRPF6):c.1305+11C>T

SNV
Germline

Chr20:64010329

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA9972140

rs_190123178

3 SubmittersRCV001140381 RCV002070677 RCV004813794

NM_012469.4(PRPF6):c.1306-7C>T

SNV
Germline

Chr20:64011278

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9972165

rs_373810213

2 SubmittersRCV001140382 RCV001516457

NM_012469.4(PRPF6):c.1525-7C>T

SNV
Germline

Chr20:64016716

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9972215

rs_200467198

2 SubmittersRCV001142237 RCV001521575

NM_012469.4(PRPF6):c.1769+8G>A

SNV
Germline

Chr20:64022886

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA317546475

rs_1021327099

2 SubmittersRCV001142238 RCV002070705

NM_012469.4(PRPF6):c.2673+12C>G

SNV
Germline

Chr20:64032056

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9972547

rs_374801637

2 SubmittersRCV001139713 RCV001422330

NM_016247.4(IMPG2):c.*685A>G

SNV
Germline

Chr3:101226284

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA79706271

rs_537248333

2 SubmittersRCV001147993 RCV003433038

NM_016247.4(IMPG2):c.3288G>A (p.Val1096=)

SNV
Germline

Chr3:101231091

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2518789

rs_190315698

3 SubmittersRCV001148100 RCV001412403 RCV003890305

NM_016247.4(IMPG2):c.2700G>A (p.Val900=)

SNV
Germline

Chr3:101243631

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2518928

rs_200353662

2 SubmittersRCV001149656 RCV001478186

NM_016247.4(IMPG2):c.2154C>A (p.Thr718=)

SNV
Germline

Chr3:101244177

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2519032

rs_755250590

2 SubmittersRCV001149658 RCV001484938

NM_016247.4(IMPG2):c.1728C>G (p.Val576=)

SNV
Germline

Chr3:101244603

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2519102

rs_556074974

2 SubmittersRCV001145349 RCV001466236

NM_016247.4(IMPG2):c.1219G>T (p.Ala407Ser)

SNV
Germline

Chr3:101253716

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2519248

rs_199986912

3 SubmittersRCV001148202 RCV001858972 RCV003890306

NM_016247.4(IMPG2):c.972C>T (p.Asp324=)

SNV
Germline

Chr3:101257710

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2519299

rs_762052051

3 SubmittersRCV001148206 RCV001479290

NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe)

SNV
Germline

Chr3:101273664

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 56
Vitelliform macular dystrophy 5
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2519391

rs_376443291

5 SubmittersRCV001149760 RCV001218602 RCV002491436 RCV004813805

NM_016247.4(IMPG2):c.165C>T (p.Asp55=)

SNV
Germline

Chr3:101319753

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2519545

rs_145388804

2 SubmittersRCV001145438 RCV001434369

NM_000539.3(RHO):c.62G>A (p.Arg21His)

SNV
Germline

Chr3:129528795

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607052

rs_552455660

2 SubmittersRCV001145549 RCV001145548 RCV001858954

NM_000539.3(RHO):c.399C>A (p.Ile133=)

SNV
Germline

Chr3:129530913

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607150

rs_372812523

3 SubmittersRCV001148424 RCV001148423 RCV001535704 RCV001324702

NM_000539.3(RHO):c.630C>T (p.Val210=)

SNV
Germline

Chr3:129532350

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607227

rs_371192803

2 SubmittersRCV001143872 RCV001150000 RCV001423121

NM_000539.3(RHO):c.732G>A (p.Gln244=)

SNV
Germline

Chr3:129532568

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607276

rs_148222991

2 SubmittersRCV001145772 RCV001145773 RCV002070760

NM_000539.3(RHO):c.744G>A (p.Lys248=)

SNV
Germline

Chr3:129532580

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2607278

rs_141185480

3 SubmittersRCV001145774 RCV001311612 RCV001145775

NM_000539.3(RHO):c.948C>T (p.Cys316=)

SNV
Germline

Chr3:129533619

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 1

Criteria Provided
Conflicting Classifications

CA2607343

rs_754809715

1 SubmittersRCV001148539 RCV001148540

NM_000539.3(RHO):c.*959A>G

SNV
Germline

Chr3:129534677

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA82621833

rs_368910470

1 SubmittersRCV001253990 RCV001253989

NM_004744.5(LRAT):c.519G>T (p.Pro173=)

SNV
Germline

Chr4:154744845

Conflicting classifications of pathogenicity

Leber congenital amaurosis 14
Retinitis pigmentosa
Condition: not provided
LRAT-related disorder

Criteria Provided
Conflicting Classifications

CA3115885

rs_375365480

3 SubmittersRCV001148966 RCV001148967 RCV002070807 RCV003938513

NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)

SNV
Germline

Chr4:15537042

Conflicting classifications of pathogenicity

Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863744

rs_543650388

5 SubmittersRCV001145127 RCV001145126 RCV002032368 RCV002557107 RCV005029722 RCV004528397

NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)

SNV
Germline

Chr4:15980426

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866380

rs_146434364

3 SubmittersRCV001150066 RCV001150067 RCV001150068 RCV001150069 RCV001326315 RCV003890308

NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)

SNV
Germline

Chr4:15987699

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Cone-rod dystrophy 12
Condition: not provided
PROM1-related disorder
Optic atrophy

Criteria Provided
Conflicting Classifications

CA2866509

rs_199727800

4 SubmittersRCV001146429 RCV001146428 RCV001146430 RCV001149203 RCV001229010 RCV004734032 RCV004813801

NM_006017.3(PROM1):c.1738A>C (p.Asn580His)

SNV
Germline

Chr4:15994016

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinitis pigmentosa
Condition: not provided
Retinal macular dystrophy type 2
Stargardt disease 4
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866657

rs_199674847

4 SubmittersRCV001144700 RCV001150815 RCV001300999 RCV001150814 RCV001150813 RCV003890296

NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)

SNV
Germline

Chr4:15994044

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866666

rs_201644238

3 SubmittersRCV001144701 RCV001144702 RCV001144703 RCV001146664 RCV002557089 RCV003890297

NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)

SNV
Germline

Chr4:16000606

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866750

rs_536622788

3 SubmittersRCV001144802 RCV001144803 RCV001144804 RCV001146761 RCV001326038 RCV003890298

NM_006017.3(PROM1):c.1407G>A (p.Pro469=)

SNV
Germline

Chr4:16006585

Conflicting classifications of pathogenicity

Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866780

rs_763710252

3 SubmittersRCV001146762 RCV001146764 RCV001146765 RCV001146763 RCV001442163 RCV003890301

NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys)

SNV
Germline

Chr4:16009055

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2866838

rs_770268627

3 SubmittersRCV001151115 RCV001151117 RCV001151116 RCV001151118 RCV001858986 RCV005463272

NM_006017.3(PROM1):c.706G>A (p.Val236Met)

SNV
Germline

Chr4:16023404

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866978

rs_536161084

3 SubmittersRCV001147064 RCV001147066 RCV001147065 RCV001147960 RCV001234845 RCV003890302

NM_006017.3(PROM1):c.376G>A (p.Val126Met)

SNV
Germline

Chr4:16033437

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Stargardt disease 4
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2867082

rs_199556426

4 SubmittersRCV001147175 RCV001147176 RCV001147173 RCV001147174 RCV001241210 RCV004813803

NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)

SNV
Germline

Chr4:16075749

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2867180

rs_755064227

3 SubmittersRCV001145315 RCV001145317 RCV001145316 RCV001147260 RCV001366102 RCV003890299

NM_001379270.1(CNGA1):c.1058C>T (p.Thr353Ile)

SNV
Germline

Chr4:47937424

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2911141

rs_183197573

2 SubmittersRCV001147267 RCV001443703

NM_001379270.1(CNGA1):c.672G>A (p.Leu224=)

SNV
Germline

Chr4:47937810

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2911206

rs_149504668

2 SubmittersRCV001148174 RCV001522513

NM_000539.3(RHO):c.361+10G>A

SNV
Germline

Chr3:129529104

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2607122

rs_372128112

3 SubmittersRCV001145667 RCV001145666 RCV002070759 RCV004813800

NM_000539.3(RHO):c.697-11G>A

SNV
Germline

Chr3:129532522

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2607270

rs_367631575

2 SubmittersRCV001143874 RCV001143873 RCV002070735

NM_006017.3(PROM1):c.2582+9A>C

SNV
Germline

Chr4:15979386

Conflicting classifications of pathogenicity

Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866317

rs_200033458

2 SubmittersRCV001145614 RCV001145615 RCV001145728 RCV001145616 RCV002557115

NM_006017.3(PROM1):c.1579-12A>C

SNV
Germline

Chr4:15998500

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866716

rs_370183490

2 SubmittersRCV001147571 RCV001147573 RCV001147572 RCV001147574 RCV002070791

NM_006017.3(PROM1):c.1301+11C>A

SNV
Germline

Chr4:16008938

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12

Criteria Provided
Conflicting Classifications

CA2866815

rs_189953160

1 SubmittersRCV001144910 RCV001151004 RCV001151005 RCV001151006

NM_006017.3(PROM1):c.1301+10T>A

SNV
Germline

Chr4:16008939

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12

Criteria Provided
Conflicting Classifications

CA2866816

rs_192338518

1 SubmittersRCV001144911 RCV001144912 RCV001144913 RCV001144914

NM_001379270.1(CNGA1):c.545+11T>C

SNV
Germline

Chr4:47942030

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2911255

rs_187802155

2 SubmittersRCV001148176 RCV001513433

NM_001379270.1(CNGA1):c.287+14C>A

SNV
Germline

Chr4:47949819

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2911327

rs_777903781

2 SubmittersRCV001149738 RCV002557220

NM_000283.4(PDE6B):c.59G>A (p.Arg20His)

SNV
Germline

Chr4:625685

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2793834

rs_781251175

3 SubmittersRCV001151131 RCV001151130 RCV001301724 RCV004032791

NM_000283.4(PDE6B):c.285C>T (p.Phe95=)

SNV
Germline

Chr4:625911

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2793898

rs_746211772

2 SubmittersRCV001151253 RCV001156705 RCV001454853

NM_000283.4(PDE6B):c.297G>A (p.Gln99=)

SNV
Germline

Chr4:625923

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2793902

rs_768652560

2 SubmittersRCV001151254 RCV001151255 RCV002070829

NM_000283.4(PDE6B):c.298C>T (p.Arg100Cys)

SNV
Germline

Chr4:625924

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2793903

rs_537263212

2 SubmittersRCV001151256 RCV001151257 RCV002070830

NM_000283.4(PDE6B):c.316C>T (p.Leu106=)

SNV
Germline

Chr4:625942

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2793910

rs_752429712

2 SubmittersRCV001151259 RCV001151260 RCV002557261

NM_000283.4(PDE6B):c.344C>T (p.Pro115Leu)

SNV
Germline

Chr4:625970

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2793914

rs_189172362

3 SubmittersRCV001154324 RCV001154323 RCV002032423 RCV004032810

NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser)

SNV
Germline

Chr4:654863

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794239

rs_140224236

4 SubmittersRCV001154093 RCV001154092 RCV003890311 RCV001394923

NM_000283.4(PDE6B):c.1506C>T (p.Tyr502=)

SNV
Germline

Chr4:660505

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2794565

rs_750323428

2 SubmittersRCV001154206 RCV001154207 RCV002070884

NM_000283.4(PDE6B):c.1805G>A (p.Arg602His)

SNV
Germline

Chr4:662591

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 40
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA2794685

rs_752846577

4 SubmittersRCV001156707 RCV001156706 RCV001301231 RCV003890313 RCV005394771

NM_000283.4(PDE6B):c.1896T>C (p.Phe632=)

SNV
Germline

Chr4:663163

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA437900505

rs_1737323722

2 SubmittersRCV001156710 RCV001156711 RCV001615127

NM_000283.4(PDE6B):c.2470A>G (p.Lys824Glu)

SNV
Germline

Chr4:667973

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2795068

rs_138682290

2 SubmittersRCV001154417 RCV001154418 RCV001209911

NM_000283.4(PDE6B):c.*474C>G

SNV
Germline

Chr4:670581

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA91097061

rs_577140751

1 SubmittersRCV001157028 RCV001157029

NM_000440.3(PDE6A):c.2322C>T (p.Val774=)

SNV
Germline

Chr5:149866206

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA447140695

rs_766767235

2 SubmittersRCV001153712 RCV001406173

NM_000440.3(PDE6A):c.2037G>A (p.Thr679=)

SNV
Germline

Chr5:149883527

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504420

rs_140267699

2 SubmittersRCV001156328 RCV001489443

NM_000440.3(PDE6A):c.1965T>C (p.His655=)

SNV
Germline

Chr5:149884541

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504451

rs_753303277

2 SubmittersRCV001156329 RCV002559502

NM_000440.3(PDE6A):c.940A>C (p.Asn314His)

SNV
Germline

Chr5:149915001

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504855

rs_150755165

2 SubmittersRCV001153811 RCV002070875

NM_000440.3(PDE6A):c.363C>T (p.Leu121=)

SNV
Germline

Chr5:149944311

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3505070

rs_767520227

2 SubmittersRCV001152639 RCV002070855

NM_000440.3(PDE6A):c.298C>T (p.Arg100Trp)

SNV
Germline

Chr5:149944376

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3505086

rs_200540105

2 SubmittersRCV001153919 RCV001486691

NM_000440.3(PDE6A):c.285C>T (p.Ser95=)

SNV
Germline

Chr5:149944389

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
PDE6A-related disorder

Criteria Provided
Conflicting Classifications

CA3505091

rs_765008436

4 SubmittersRCV001153920 RCV002070877 RCV003898149

NM_003322.6(TULP1):c.1569C>T (p.Cys523=)

SNV
Germline

Chr6:35498387

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772514

rs_768536269

2 SubmittersRCV001153580 RCV001153581 RCV002070872

NM_003322.6(TULP1):c.1563G>A (p.Pro521=)

SNV
Germline

Chr6:35498393

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA137276899

rs_1031077618

2 SubmittersRCV001156196 RCV001156195 RCV001458705

NM_003322.6(TULP1):c.1169G>A (p.Arg390His)

SNV
Germline

Chr6:35503792

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3772633

rs_139402633

3 SubmittersRCV001157866 RCV001157867 RCV001349738 RCV002557350

NM_003322.6(TULP1):c.1152C>T (p.Asn384=)

SNV
Germline

Chr6:35503809

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772638

rs_371436525

2 SubmittersRCV001157868 RCV001157869 RCV002070946

NM_003322.6(TULP1):c.541G>C (p.Val181Leu)

SNV
Germline

Chr6:35509887

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772882

rs_576738703

2 SubmittersRCV001152496 RCV001157951 RCV001858997

NM_000283.4(PDE6B):c.2352+14G>A

SNV
Germline

Chr4:666628

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2795019

rs_752968664

2 SubmittersRCV001151392 RCV001151391 RCV002557265

NM_000283.4(PDE6B):c.2353-13C>T

SNV
Germline

Chr4:667843

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2795034

rs_369466418

2 SubmittersRCV001151394 RCV001151393 RCV002070834

NM_000440.3(PDE6A):c.1728+13C>T

SNV
Germline

Chr5:149895170

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504570

rs_144868706

2 SubmittersRCV001157993 RCV002070947

NM_001242957.3(MAK):c.1673-15A>G

SNV
Germline

Chr6:10770245

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1139659427

rs_1772880607

2 SubmittersRCV001151576 RCV003698842

NM_001242957.3(MAK):c.1144-8C>T

SNV
Germline

Chr6:10791855

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3633526

rs_776541315

2 SubmittersRCV001154589 RCV001415537

NM_001242957.3(MAK):c.358+12T>C

SNV
Germline

Chr6:10813632

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA134127654

rs_200703968

2 SubmittersRCV001157109 RCV003698846

NM_003322.6(TULP1):c.1112+8T>C

SNV
Germline

Chr6:35505733

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA566703185

rs_1286919081

2 SubmittersRCV001157871 RCV001157870 RCV002559519

NM_002098.6(GUCA1B):c.570C>T (p.Leu190=)

SNV
Germline

Chr6:42184848

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3805497

rs_200001533

2 SubmittersRCV001163363 RCV001432086

NM_002098.6(GUCA1B):c.516G>A (p.Arg172=)

SNV
Germline

Chr6:42184902

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3805506

rs_752988497

2 SubmittersRCV001163364 RCV001426384

NM_002098.6(GUCA1B):c.150C>T (p.Asp50=)

SNV
Germline

Chr6:42194671

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3805640

rs_142428974

2 SubmittersRCV001163655 RCV001405777

NM_002098.6(GUCA1B):c.111C>A (p.Leu37=)

SNV
Germline

Chr6:42194710

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3805648

rs_117959899

2 SubmittersRCV001163656 RCV003890333

NM_002098.6(GUCA1B):c.15T>G (p.Phe5Leu)

SNV
Germline

Chr6:42194806

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3805670

rs_202229506

3 SubmittersRCV001163658 RCV002032506 RCV003890334

NM_000322.5(PRPH2):c.*1079G>A

SNV
Germline

Chr6:42697216

Conflicting classifications of pathogenicity

Cone-rod dystrophy
Pigmentary retinal dystrophy
Patterned macular dystrophy 1
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy

Criteria Provided
Conflicting Classifications

CA138165855

rs_572613522

1 SubmittersRCV001159042 RCV001159043 RCV001160385 RCV001160386 RCV001160387 RCV001160384

NM_000322.5(PRPH2):c.*509G>A

SNV
Germline

Chr6:42697786

Conflicting classifications of pathogenicity

Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Choroidal dystrophy, central areolar 2
Adult-onset foveomacular vitelliform dystrophy
Cone-rod dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA138166131

rs_56194662

1 SubmittersRCV001162319 RCV001162321 RCV001162323 RCV001162320 RCV001162322 RCV001162324

NM_000322.5(PRPH2):c.*152G>A

SNV
Germline

Chr6:42698143

Conflicting classifications of pathogenicity

Patterned macular dystrophy 1
Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA138166355

rs_113384495

1 SubmittersRCV001160912 RCV001160913 RCV001160914 RCV001160910 RCV001160909 RCV001160911

NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu)

SNV
Germline

Chr6:42698381

Conflicting classifications of pathogenicity

Pigmentary retinal dystrophy
Retinitis pigmentosa
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
PRPH2-related disorder
Retinal dystrophy
Condition: not provided
Cone-rod dystrophy
Adult-onset foveomacular vitelliform dystrophy

Criteria Provided
Conflicting Classifications

CA3808471

rs_139329966

4 SubmittersRCV001159755 RCV001159752 RCV001159753 RCV001159754 RCV001359073 RCV003890320 RCV001530390 RCV001164673 RCV001164674

NM_000322.5(PRPH2):c.852C>A (p.Arg284=)

SNV
Germline

Chr6:42698484

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Pigmentary retinal dystrophy
Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Cone-rod dystrophy
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA3808497

rs_745807357

2 SubmittersRCV001162823 RCV001162825 RCV001162822 RCV001162824 RCV001162826 RCV001161272 RCV002558532

NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser)

SNV
Germline

Chr6:42721989

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy
Adult-onset foveomacular vitelliform dystrophy
Patterned macular dystrophy 1
Cone-rod dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3808632

rs_140227298

3 SubmittersRCV001158297 RCV001158293 RCV001158295 RCV001165013 RCV001158294 RCV001158296 RCV001530223 RCV003890315

NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg)

SNV
Germline

Chr6:42722291

Conflicting classifications of pathogenicity

Cone-rod dystrophy
Patterned macular dystrophy 1
Retinitis pigmentosa
PRPH2-related disorder
Choroidal dystrophy, central areolar 2
Condition: not provided
Retinal dystrophy
Pigmentary retinal dystrophy
Adult-onset foveomacular vitelliform dystrophy

Criteria Provided
Conflicting Classifications

CA3808674

rs_555112175

4 SubmittersRCV001165225 RCV001165226 RCV001165227 RCV002559561 RCV001163150 RCV001530272 RCV003890331 RCV001163149 RCV001163151

NM_001142800.2(EYS):c.8211A>C (p.Ala2737=)

SNV
Germline

Chr6:63726541

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140237393

rs_1011193191

2 SubmittersRCV001159544 RCV001441002

NM_001142800.2(EYS):c.7737T>G (p.Thr2579=)

SNV
Germline

Chr6:63778167

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA450758237

rs_191846522

2 SubmittersRCV001159548 RCV001422171

NM_001142800.2(EYS):c.7047C>A (p.Thr2349=)

SNV
Germline

Chr6:63984391

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA450744088

rs_1767253468

3 SubmittersRCV001162533 RCV003565471 RCV005614491

NM_001142800.2(EYS):c.6510C>T (p.Asn2170=)

SNV
Germline

Chr6:64081917

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3876908

rs_756110037

3 SubmittersRCV001164566 RCV001446688 RCV001833722

NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile)

SNV
Germline

Chr6:64590876

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3877041

rs_561830314

5 SubmittersRCV001164681 RCV001245603 RCV001828578 RCV004813821

NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val)

SNV
Germline

Chr6:64591504

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3877087

rs_183144150

5 SubmittersRCV003890326 RCV001349026 RCV001828575 RCV001161168

NM_001142800.2(EYS):c.3972C>T (p.Leu1324=)

SNV
Germline

Chr6:64591895

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3877113

rs_202130794

2 SubmittersRCV001162726 RCV003890329

NM_001142800.2(EYS):c.2546G>A (p.Arg849His)

SNV
Germline

Chr6:64912579

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3877277

rs_775080539

3 SubmittersRCV001164891 RCV001318901 RCV001833723

NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys)

SNV
Germline

Chr6:65295887

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3877356

rs_765763663

4 SubmittersRCV001159986 RCV001278519 RCV002249743 RCV002032475

NM_001142800.2(EYS):c.1497C>T (p.Ala499=)

SNV
Germline

Chr6:65344140

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA450707640

rs_1300237940

2 SubmittersRCV001162940 RCV001429474

NM_001142800.2(EYS):c.1005G>T (p.Glu335Asp)

SNV
Germline

Chr6:65405225

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3877903

rs_80095433

4 SubmittersRCV001158308 RCV001828573 RCV001246017 RCV003890316

NM_001142800.2(EYS):c.522C>T (p.Cys174=)

SNV
Germline

Chr6:65494889

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3878061

rs_373343831

2 SubmittersRCV001161511 RCV001430124

NM_001142800.2(EYS):c.77G>A (p.Arg26Gln)

SNV
Germline

Chr6:65495334

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA140434991

rs_528733427

5 SubmittersRCV001202977 RCV003890330 RCV001163040 RCV001836123

NM_000883.4(IMPDH1):c.*196C>T

SNV
Germline

Chr7:128392811

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11

Criteria Provided
Conflicting Classifications

CA166119637

rs_72624974

1 SubmittersRCV001161183 RCV001161184

NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu)

SNV
Germline

Chr7:128395256

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4470872

rs_763999626

2 SubmittersRCV001162848 RCV001162849 RCV001462652

NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp)

SNV
Germline

Chr7:128396635

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 10

Criteria Provided
Conflicting Classifications

CA4470898

rs_375914533

3 SubmittersRCV001162851 RCV001162850 RCV001510613 RCV001593301

NM_000883.4(IMPDH1):c.675T>C (p.Ser225=)

SNV
Germline

Chr7:128400444

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4471082

rs_373353058

2 SubmittersRCV001161421 RCV001161420 RCV002558539

NM_000883.4(IMPDH1):c.561C>T (p.Asn187=)

SNV
Germline

Chr7:128400835

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4471124

rs_1042250

2 SubmittersRCV001162954 RCV001162955 RCV001393541

NM_001031710.3(KLHL7):c.126G>A (p.Thr42=)

SNV
Germline

Chr7:23123782

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4186299

rs_150640353

3 SubmittersRCV001163291 RCV003890332 RCV005056967

NM_001031710.3(KLHL7):c.513G>A (p.Gln171=)

SNV
Germline

Chr7:23140839

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4186447

rs_750816527

2 SubmittersRCV001163295 RCV001515906

NM_001031710.3(KLHL7):c.738G>A (p.Thr246=)

SNV
Germline

Chr7:23143970

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4186475

rs_148401327

2 SubmittersRCV001165398 RCV001421165

NM_001031710.3(KLHL7):c.1092G>A (p.Ser364=)

SNV
Germline

Chr7:23165853

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4186543

rs_770570364

3 SubmittersRCV001165399 RCV002559584 RCV003890337

NM_001031710.3(KLHL7):c.1597T>C (p.Leu533=)

SNV
Germline

Chr7:23174134

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4186655

rs_144156217

2 SubmittersRCV001165400 RCV002068005

NM_001031710.3(KLHL7):c.*24T>C

SNV
Germline

Chr7:23174322

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4186678

rs_373590982

2 SubmittersRCV001158672 RCV003438688

NM_178857.6(RP1L1):c.5326A>T (p.Thr1776Ser)

SNV
Germline

Chr8:10608772

Conflicting classifications of pathogenicity

Occult macular dystrophy
Inborn genetic diseases
Occult macular dystrophy
Retinitis pigmentosa 88

Criteria Provided
Conflicting Classifications

CA4623693

rs_199996267

3 SubmittersRCV001158688 RCV003163348 RCV005394774

NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)

SNV
Germline

Chr8:43169200

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

CA460570718

rs_1355715592

2 SubmittersRCV001164230 RCV001492187

NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=)

SNV
Germline

Chr8:43196971

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

CA4736915

rs_371042202

2 SubmittersRCV001160692 RCV001407361

NM_006269.2(RP1):c.21T>G (p.Thr7=)

SNV
Germline

Chr8:54620987

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4751071

rs_377126381

2 SubmittersRCV001158391 RCV001441781

NM_006269.2(RP1):c.2825C>T (p.Thr942Met)

SNV
Germline

Chr8:54626707

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4751587

rs_112323560

3 SubmittersRCV001158499 RCV001304039 RCV002557356

NM_006269.2(RP1):c.3034C>T (p.Leu1012=)

SNV
Germline

Chr8:54626916

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA461099955

rs_1371672240

2 SubmittersRCV001161708 RCV002558541

NM_006269.2(RP1):c.3399C>G (p.Leu1133=)

SNV
Germline

Chr8:54627281

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4751684

rs_746723674

2 SubmittersRCV001161712 RCV001410846

NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro)

SNV
Germline

Chr8:54628132

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
RP1-related disorder

Criteria Provided
Conflicting Classifications

CA4751829

rs_139294220

7 SubmittersRCV001165331 RCV001357149 RCV003953553

NM_006269.2(RP1):c.4393T>C (p.Leu1465=)

SNV
Germline

Chr8:54628275

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4751858

rs_769786870

2 SubmittersRCV001165333 RCV001439939

NM_006269.2(RP1):c.6169C>G (p.Gln2057Glu)

SNV
Germline

Chr8:54630051

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4752197

rs_201860457

3 SubmittersRCV001165449 RCV001501910 RCV005268921

NM_001142800.2(EYS):c.7898+12G>A

SNV
Germline

Chr6:63777994

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3876769

rs_557020239

2 SubmittersRCV001159546 RCV002070969

NM_001142800.2(EYS):c.7724-12C>T

SNV
Germline

Chr6:63778192

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3876780

rs_144282503

2 SubmittersRCV001160924 RCV002070992

NM_001142800.2(EYS):c.1056+11A>G

SNV
Germline

Chr6:65405163

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3877894

rs_201004766

2 SubmittersRCV001158307 RCV001486239

NM_000883.4(IMPDH1):c.255-10C>T

SNV
Germline

Chr7:128405875

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA577708691

rs_1478038443

2 SubmittersRCV001165038 RCV001165037 RCV001402946

NM_001031710.3(KLHL7):c.618+10T>C

SNV
Germline

Chr7:23140954

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA836816330

rs_1248148456

2 SubmittersRCV001165397 RCV001435249

NM_177965.4(CFAP418):c.*2212C>T

SNV
Germline

Chr8:95245405

Conflicting classifications of pathogenicity

Cone-rod dystrophy 16
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA182087879

rs_79305170

1 SubmittersRCV001165510 RCV001165511

NM_177965.4(CFAP418):c.*2166T>G

SNV
Germline

Chr8:95245451

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 16

Criteria Provided
Conflicting Classifications

CA182087884

rs_149998549

1 SubmittersRCV001165515 RCV001165514

NM_177965.4(CFAP418):c.*791G>T

SNV
Germline

Chr8:95246826

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 16

Criteria Provided
Conflicting Classifications

CA182088023

rs_140209136

1 SubmittersRCV001169630 RCV001169631

NM_177965.4(CFAP418):c.*536A>C

SNV
Germline

Chr8:95247081

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 16

Criteria Provided
Conflicting Classifications

CA182088043

rs_150311212

1 SubmittersRCV001169635 RCV001169634

NM_005802.5(TOPORS):c.2234C>G (p.Ser745Cys)

SNV
Germline

Chr9:32542291

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5020401

rs_758096681

3 SubmittersRCV001169505 RCV001482157 RCV003293915

NM_005802.5(TOPORS):c.2010A>C (p.Ser670=)

SNV
Germline

Chr9:32542515

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5020432

rs_762871906

3 SubmittersRCV001165481 RCV002558607 RCV003890338

NM_005802.5(TOPORS):c.1725C>T (p.Asn575=)

SNV
Germline

Chr9:32542800

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5020482

rs_757674137

3 SubmittersRCV001165485 RCV001424280

NM_005802.5(TOPORS):c.1707A>G (p.Ser569=)

SNV
Germline

Chr9:32542818

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5020486

rs_368712338

2 SubmittersRCV001167079 RCV001435142

NM_005802.5(TOPORS):c.1170A>T (p.Ser390=)

SNV
Germline

Chr9:32543355

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5020561

rs_763061457

2 SubmittersRCV001167082 RCV001399086

NM_005802.5(TOPORS):c.671A>G (p.Asp224Gly)

SNV
Germline

Chr9:32543854

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5020612

rs_147071021

3 SubmittersRCV001167660 RCV002068027

NM_005802.5(TOPORS):c.360A>G (p.Leu120=)

SNV
Germline

Chr9:32544165

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5020657

rs_147302494

2 SubmittersRCV001167663 RCV001480677

NM_006915.3(RP2):c.11T>G (p.Phe4Cys)

SNV
Germline

ChrX:46837111

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10394160

rs_782190396

2 SubmittersRCV001168266 RCV001522598

NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter)

SNV
Germline

ChrX:38304686

Likely pathogenic

Retinitis pigmentosa 6

Criteria Provided
Single Submitter

CA412741329

rs_2067562961

1 SubmittersRCV001171309

NM_014053.4(FLVCR1):c.730G>A (p.Gly244Ser)

SNV
Germline

Chr1:212859182

Likely pathogenic

Hereditary sensory and autonomic neuropathy
Retinitis pigmentosa
Posterior column ataxia-retinitis pigmentosa syndrome

Criteria Provided
Single Submitter

CA344797672

rs_1664140651

2 SubmittersRCV001261546 RCV005049777

NM_002242.4(KCNJ13):c.431T>C (p.Leu144Pro)

SNV
Germline

Chr2:232770932

Likely pathogenic

Leber congenital amaurosis 16
Retinitis pigmentosa

Criteria Provided
Single Submitter

CA351011908

rs_1361858388

2 SubmittersRCV001269022 RCV004813155

NM_001297.5(CNGB1):c.973C>T (p.Gln325Ter)

SNV
Germline

Chr16:57950442

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

CA396075577

rs_1961919100

1 SubmittersRCV001269023

NM_001029883.3(PCARE):c.3668+2T>C

SNV
Germline

Chr2:29070592

Likely pathogenic

Retinitis pigmentosa 54
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA346472575

rs_1667454188

2 SubmittersRCV001269025 RCV004794496

NM_174878.3(CLRN1):c.254-2A>G

SNV
Germline

Chr3:150941763

Likely pathogenic

Usher syndrome type 3
Retinitis pigmentosa 61

Criteria Provided
Single Submitter

CA354956260

rs_1713861377

2 SubmittersRCV001199960 RCV004570414

NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter)

SNV
Germline

Chr1:197438675

Pathogenic/Likely pathogenic

Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA344051056

rs_1665282478

4 SubmittersRCV001198223 RCV001859201 RCV003449635 RCV003449636 RCV005614493

NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser)

SNV
Germline

Chr1:94098886

Conflicting classifications of pathogenicity

Age related macular degeneration 2
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958769

rs_149780335

5 SubmittersRCV001196793 RCV001233979 RCV001352988 RCV005359925

NM_014014.5(SNRNP200):c.4943G>A (p.Arg1648Gln)

SNV
Germline

Chr2:96281895

Conflicting classifications of pathogenicity

Retinitis pigmentosa 33
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1778072

rs_200426430

3 SubmittersRCV001198911 RCV001227625 RCV004813848

NM_016247.4(IMPG2):c.1087C>T (p.Gln363Ter)

SNV
Germline

Chr3:101257595

Pathogenic

Retinitis pigmentosa 56
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA2519283

rs_753747821

3 SubmittersRCV001197524 RCV001384529 RCV004813841

NM_000283.4(PDE6B):c.1859A>G (p.His620Arg)

SNV
Germline

Chr4:663126

Conflicting classifications of pathogenicity

Retinitis pigmentosa 40
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA355917796

rs_1737315492

2 SubmittersRCV001198799 RCV004794503

NM_006269.2(RP1):c.4908C>A (p.Tyr1636Ter)

SNV
Unknown

Chr8:54628790

Likely pathogenic

Retinitis pigmentosa 1

Criteria Provided
Single Submitter

CA4751968

rs_200942439

1 SubmittersRCV001199314

NM_015629.4(PRPF31):c.757G>A (p.Gly253Arg)

SNV
Germline

Chr19:54124558

Pathogenic/Likely pathogenic

Retinitis pigmentosa 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA407751183

rs_2073873973

3 SubmittersRCV001197522 RCV001876281

NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys)

SNV
Germline

ChrX:38285542

Likely pathogenic

Retinitis pigmentosa 3
RPGR-related retinopathy

Reviewed By Expert Panel

CA412725857

rs_2067111489

2 SubmittersRCV001199003 RCV005415466

NM_004698.4(PRPF3):c.508-13C>G

SNV
Germline

Chr1:150332966

Conflicting classifications of pathogenicity

Retinitis pigmentosa 18
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1075459

rs_373033761

2 SubmittersRCV001199345 RCV002069290

NM_016247.4(IMPG2):c.1240-2A>G

SNV
Unknown

Chr3:101246107

Pathogenic

Retinitis pigmentosa 56

Criteria Provided
Single Submitter

CA353863100

rs_1706475153

1 SubmittersRCV001198463

NM_000440.3(PDE6A):c.2027+2T>G

SNV
Unknown

Chr5:149884477

Pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

CA361693192

rs_1259637349

1 SubmittersRCV001196671

NM_201253.3(CRB1):c.1096A>C (p.Ile366Leu)

SNV
Germline

Chr1:197356938

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1311807

rs_763122264

3 SubmittersRCV001214964 RCV001833875 RCV005318653

NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)

SNV
Germline

Chr1:197442223

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA344052568

rs_1665481687

3 SubmittersRCV001217937 RCV003449687 RCV003449688 RCV003449689 RCV002484183

NM_201548.5(CERKL):c.677+581G>A

SNV
Germline

Chr2:181565477

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

CA349742596

rs_1574454654

4 SubmittersRCV001223808 RCV003887920 RCV003473781

NM_001201543.2(FAM161A):c.277G>T (p.Glu93Ter)

SNV
Germline

Chr2:61842267

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 28

Criteria Provided
Multiple Submitters
No Conflicts

CA1679392

rs_531265943

4 SubmittersRCV001222640 RCV001780150

NM_000283.4(PDE6B):c.610G>T (p.Glu204Ter)

SNV
Germline

Chr4:634818

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA2794011

rs_765804881

3 SubmittersRCV001222006 RCV005235539

NM_001242957.3(MAK):c.1834G>C (p.Gly612Arg)

SNV
Germline

Chr6:10764565

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 62

Criteria Provided
Conflicting Classifications

CA3633330

rs_201628941

3 SubmittersRCV001223571 RCV003132292

NM_001142800.2(EYS):c.5462C>T (p.Thr1821Ile)

SNV
Germline

Chr6:64590405

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3877014

rs_776654329

3 SubmittersRCV001836172 RCV001224081 RCV004978145

NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter)

SNV
Germline

Chr6:64590912

Pathogenic

Condition: not provided
EYS-related disorder
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364782176

rs_909730457

4 SubmittersRCV001224199 RCV003983852 RCV001828789

NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter)

SNV
Germline

Chr6:65344158

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364661548

rs_774464019

3 SubmittersRCV003145415 RCV001221842

NM_014714.4(IFT140):c.240G>A (p.Trp80Ter)

SNV
Germline

Chr16:1602499

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA394223201

rs_1471379682

3 SubmittersRCV002497752 RCV001221113 RCV004753238

NM_201253.3(CRB1):c.379C>T (p.Gln127Ter)

SNV
Germline

Chr1:197328730

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344085642

rs_1658673791

1 SubmittersRCV001204868

NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)

SNV
Germline

Chr1:197421669

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy
Condition: not provided
Leber congenital amaurosis 8
Retinal dystrophy
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1311993

rs_763111500

7 SubmittersRCV001201454 RCV001833768 RCV003449640 RCV005415607 RCV002250730 RCV003230647 RCV003449639

NM_201253.3(CRB1):c.1949G>A (p.Trp650Ter)

SNV
Germline

Chr1:197421777

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344033034

rs_1664341626

1 SubmittersRCV001208214

NM_206933.4(USH2A):c.10962C>A (p.Tyr3654Ter)

SNV
Germline

Chr1:215766766

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344827353

rs_1661141590

2 SubmittersRCV001208723 RCV004570448

NM_206933.4(USH2A):c.8628G>A (p.Trp2876Ter)

SNV
Germline

Chr1:215877811

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344829305

rs_1180119632

2 SubmittersRCV001202936 RCV003462680

NM_206933.4(USH2A):c.1618C>T (p.Gln540Ter)

SNV
Germline

Chr1:216321909

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344907664

rs_1558036860

3 SubmittersRCV001209939 RCV003462702 RCV005012611

NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)

SNV
Germline

Chr1:68439023

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis

Reviewed By Expert Panel

CA340744901

rs_1171545533

4 SubmittersRCV001212438 RCV003469354 RCV004801931 RCV005408752

NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)

SNV
Germline

Chr1:68439303

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902404

rs_373652862

3 SubmittersRCV001206748 RCV001833815 RCV003469337

NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp)

SNV
Germline

Chr2:27461361

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Inborn genetic diseases
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580333

rs_137906877

5 SubmittersRCV001213704 RCV001586056 RCV002504255 RCV002561823 RCV004548069

NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)

SNV
Germline

Chr2:27461794

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580379

rs_147744868

4 SubmittersRCV001211918 RCV001751388 RCV003336334 RCV004548066

NM_015662.3(IFT172):c.812G>A (p.Arg271Gln)

SNV
Germline

Chr2:27480123

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1580853

rs_375847990

3 SubmittersRCV001212282 RCV004738193 RCV005582585

NM_015662.3(IFT172):c.148A>T (p.Arg50Ter)

SNV
Germline

Chr2:27485395

Pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Single Submitter

CA346403132

rs_1668686361

1 SubmittersRCV001207600

NM_015662.3(IFT172):c.59C>T (p.Thr20Ile)

SNV
Germline

Chr2:27485484

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1581125

rs_751486617

3 SubmittersRCV001213916 RCV004548070 RCV004986951

NM_000539.3(RHO):c.512C>G (p.Pro171Arg)

SNV
Germline

Chr3:129531026

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354498731

rs_2084776162

2 SubmittersRCV003388936 RCV001208283

NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg)

SNV
Germline

Chr3:97791790

Conflicting classifications of pathogenicity

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
ARL6-related disorder
Condition: not provided
Retinitis pigmentosa 55
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 3

Criteria Provided
Conflicting Classifications

CA2505987

rs_764523283

4 SubmittersRCV001205616 RCV003938562 RCV004726955 RCV005036459

NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro)

SNV
Germline

Chr4:15557452

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA2864003

rs_200707391

3 SubmittersRCV001207137 RCV002251560 RCV005029754

NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro)

SNV
Germline

Chr6:42721946

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA364137665

rs_1761911206

4 SubmittersRCV001530282 RCV001212513 RCV001250303

NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn)

SNV
Germline

Chr6:63721047

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364383526

rs_1211856182

6 SubmittersRCV001208831 RCV003226443 RCV003462698 RCV004813875

NM_001142800.2(EYS):c.8659G>T (p.Gly2887Ter)

SNV
Germline

Chr6:63721372

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364384263

rs_1768381543

2 SubmittersRCV001213720 RCV003462720

NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr)

SNV
Germline

Chr6:64081864

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364390767

rs_1562190751

4 SubmittersRCV001213850 RCV003469359 RCV003887912

NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter)

SNV
Germline

Chr8:43182183

Pathogenic/Likely pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Multiple Submitters
No Conflicts

CA4736739

rs_756420301

3 SubmittersRCV001204409 RCV004570431

NM_001244926.2(PRPF4):c.1504G>A (p.Asp502Asn)

SNV
Germline

Chr9:113291598

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa 70

Criteria Provided
Conflicting Classifications

CA5195190

rs_141207203

4 SubmittersRCV001210372 RCV004033795 RCV002471044

NM_002900.3(RBP3):c.2341G>C (p.Asp781His)

SNV
Germline

Chr10:47350825

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5487304

rs_145285304

2 SubmittersRCV005419033 RCV001207193

NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)

SNV
Germline

Chr14:88824711

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Retinitis pigmentosa 51
Bardet-Biedl syndrome 8
TTC8-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7302303

rs_759112760

4 SubmittersRCV001206292 RCV002497706 RCV003405389 RCV002561222

NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu)

SNV
Germline

Chr16:1525267

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7813466

rs_200561100

3 SubmittersRCV001208700 RCV002504245 RCV004033739

NM_014714.4(IFT140):c.329G>A (p.Arg110His)

SNV
Germline

Chr16:1602410

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814746

rs_371077545

2 SubmittersRCV001210181 RCV002480693

NM_031885.5(BBS2):c.269A>G (p.Asp90Gly)

SNV
Germline

Chr16:56514529

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA395985677

rs_1228731722

2 SubmittersRCV001213840 RCV005021511

NM_001297.5(CNGB1):c.595C>T (p.Arg199Cys)

SNV
Germline

Chr16:57960054

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
CNGB1-related disorder
Retinitis pigmentosa 45
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8083737

rs_199583058

5 SubmittersRCV001207760 RCV002561664 RCV003953580 RCV002491630 RCV004813868

NM_201253.3(CRB1):c.2129-1G>C

SNV
Germline

Chr1:197427453

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344036265

rs_1664642051

1 SubmittersRCV001203808

NM_206933.4(USH2A):c.8224-1G>C

SNV
Germline

Chr1:215879099

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344832840

rs_1664846558

3 SubmittersRCV001213552 RCV003469357 RCV005012618

NM_000329.3(RPE65):c.643+2T>A

SNV
Germline

Chr1:68440851

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340746737

rs_1645896934

2 SubmittersRCV001210075 RCV003469347

NM_001142800.2(EYS):c.3165-1G>A

SNV
Germline

Chr6:64821724

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364787313

rs_1349089552

2 SubmittersRCV001205737 RCV001833806

NM_152419.3(HGSNAT):c.1013-1G>C

SNV
Germline

Chr8:43182144

Pathogenic/Likely pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA371118292

rs_1804147747

2 SubmittersRCV001201450 RCV003890342

NM_014714.4(IFT140):c.1901+1G>T

SNV
Germline

Chr16:1566160

Likely pathogenic

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

CA7814102

rs_375910993

2 SubmittersRCV001208661 RCV002480683

NM_206933.4(USH2A):c.14791+4A>G

SNV
Germline

Chr1:215647518

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA731350208

rs_1408904076

3 SubmittersRCV001214301 RCV004570473

NM_206933.4(USH2A):c.9959-4159A>G

SNV
Germline

Chr1:215794441

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1139656571

rs_1662067653

4 SubmittersRCV001224891 RCV003469394

NM_000329.3(RPE65):c.726-2A>T

SNV
Germline

Chr1:68439325

Pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340745897

rs_878853372

6 SubmittersRCV001250705 RCV001224577 RCV004813910 RCV005036492 RCV005253749

NM_201548.5(CERKL):c.1074-1G>C

SNV
Germline

Chr2:181548605

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA61583218

rs_927261937

6 SubmittersRCV001219755 RCV004813903 RCV001724268

NM_001142800.2(EYS):c.749-1G>A

SNV
Germline

Chr6:65490708

Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3877992

rs_368159852

3 SubmittersRCV001828727 RCV001217429

NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter)

SNV
Germline

Chr1:197421209

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344030641

rs_1664292210

3 SubmittersRCV001228468 RCV001780159 RCV003449718 RCV003449717

NM_201253.3(CRB1):c.1472A>T (p.Asp491Val)

SNV
Germline

Chr1:197421300

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
CRB1-related maculopathy

Criteria Provided
Conflicting Classifications

CA344031063

rs_1664299898

2 SubmittersRCV001237375 RCV001352966

NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro)

SNV
Germline

Chr1:197427583

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA35900458

rs_896160584

4 SubmittersRCV001232801 RCV001779138 RCV004813938 RCV005012649

NM_201253.3(CRB1):c.3952A>T (p.Lys1318Ter)

SNV
Germline

Chr1:197442239

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344052606

rs_1665482895

1 SubmittersRCV001230470

NM_206933.4(USH2A):c.14926G>A (p.Gly4976Ser)

SNV
Germline

Chr1:215640600

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1392884

rs_200761611

3 SubmittersRCV001235584 RCV001828874 RCV003469432

NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter)

SNV
Germline

Chr1:215674639

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA344845919

rs_1657939866

3 SubmittersRCV001231420 RCV003462787 RCV002307704

NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)

SNV
Germline

Chr1:215759796

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344823135

rs_755804518

4 SubmittersRCV001235448 RCV002246225 RCV005012656

NM_206933.4(USH2A):c.8332C>T (p.Gln2778Ter)

SNV
Germline

Chr1:215878990

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344832026

rs_1664842535

2 SubmittersRCV001227118 RCV005014265

NM_206933.4(USH2A):c.7633A>T (p.Lys2545Ter)

SNV
Germline

Chr1:215889016

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344841584

rs_774559456

2 SubmittersRCV001232014 RCV004570579

NM_206933.4(USH2A):c.3251G>A (p.Trp1084Ter)

SNV
Germline

Chr1:216207338

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344862450

rs_1363689100

2 SubmittersRCV001230360 RCV003462783

NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr)

SNV
Germline

Chr1:216247064

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1396247

rs_192119790

3 SubmittersRCV001232520 RCV001249898 RCV001836188

NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys)

SNV
Germline

Chr1:216324260

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
not specified
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1396567

rs_757525434

4 SubmittersRCV001227461 RCV001828816 RCV004587080 RCV005014266

NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)

SNV
Germline

Chr1:216324270

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344911767

rs_2037682180

6 SubmittersRCV001237068 RCV003388606 RCV003389490 RCV003462803

NM_206933.4(USH2A):c.449T>G (p.Leu150Ter)

SNV
Germline

Chr1:216421888

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344903761

rs_1553258037

2 SubmittersRCV001238263 RCV005235542

NM_000329.3(RPE65):c.536C>T (p.Ala179Val)

SNV
Germline

Chr1:68440960

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747151

rs_1645898265

2 SubmittersRCV001238369 RCV003770275

NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val)

SNV
Germline

Chr1:94046937

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA341275316

rs_1291080436

4 SubmittersRCV001230252 RCV004587084 RCV005036499

NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile)

SNV
Germline

Chr2:27445791

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1579441

rs_762958757

3 SubmittersRCV001227918 RCV005029791 RCV004738202

NM_015662.3(IFT172):c.3005T>A (p.Leu1002His)

SNV
Germline

Chr2:27457947

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
Inborn genetic diseases
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580104

rs_369466577

4 SubmittersRCV001225617 RCV001570125 RCV002562603 RCV004548077

NM_015662.3(IFT172):c.1983T>A (p.His661Gln)

SNV
Germline

Chr2:27463136

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1580465

rs_150739354

4 SubmittersRCV001229036 RCV004548081 RCV002484250 RCV001760224

NM_001201543.2(FAM161A):c.1666C>T (p.Gln556Ter)

SNV
Germline

Chr2:61838623

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 28

Criteria Provided
Multiple Submitters
No Conflicts

CA1679069

rs_186972495

3 SubmittersRCV001238187 RCV003462807

NM_000539.3(RHO):c.888G>C (p.Lys296Asn)

SNV
Germline

Chr3:129532724

Pathogenic

Condition: not provided
Retinitis pigmentosa 4
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA354470800

rs_2084793009

3 SubmittersRCV001228505 RCV001265163 RCV004813923

NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)

SNV
Germline

Chr3:3148095

Pathogenic/Likely pathogenic

Retinitis pigmentosa and erythrocytic microcytosis
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2228925

rs_199931785

3 SubmittersRCV001249658 RCV001237758

NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln)

SNV
Germline

Chr5:149895226

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA3504594

rs_373537826

3 SubmittersRCV001235330 RCV003323829

NM_001242957.3(MAK):c.1600G>T (p.Glu534Ter)

SNV
Germline

Chr6:10773106

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 62

Criteria Provided
Multiple Submitters
No Conflicts

CA134100527

rs_926585713

2 SubmittersRCV001231399 RCV005040061

NM_001142800.2(EYS):c.8734C>T (p.Gln2912Ter)

SNV
Germline

Chr6:63721297

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364384094

rs_1561993938

2 SubmittersRCV001230006 RCV003469406

NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro)

SNV
Germline

Chr6:64388809

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
not specified

Criteria Provided
Conflicting Classifications

CA364392188

rs_1278246029

4 SubmittersRCV001231026 RCV001834002 RCV003323825

NM_001142800.2(EYS):c.2992G>A (p.Gly998Ser)

SNV
Germline

Chr6:64886697

Pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Single Submitter

CA140377012

rs_1010982936

3 SubmittersRCV001227059 RCV001833962 RCV004813916

NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter)

SNV
Germline

Chr6:79493708

Pathogenic

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 5
Polycystic liver disease 2

Criteria Provided
Multiple Submitters
No Conflicts

CA3901029

rs_151017794

5 SubmittersRCV001234057 RCV001724273 RCV001828861 RCV004813160

NM_152419.3(HGSNAT):c.679C>T (p.Gln227Ter)

SNV
Germline

Chr8:43170630

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA371116153

rs_1803593441

1 SubmittersRCV001231322

NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln)

SNV
Germline

Chr16:1511059

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7812801

rs_150276786

2 SubmittersRCV001230459 RCV002491739

NM_014714.4(IFT140):c.4159G>A (p.Val1387Met)

SNV
Germline

Chr16:1518239

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7812889

rs_142668269

3 SubmittersRCV001237799 RCV001773540 RCV002491769

NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val)

SNV
Germline

Chr16:1519932

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7812960

rs_376151586

4 SubmittersRCV001238483 RCV002480779 RCV003263877 RCV003456484

NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser)

SNV
Germline

Chr16:1525897

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7813505

rs_566450108

2 SubmittersRCV001231897 RCV002491744

NM_014714.4(IFT140):c.1322G>A (p.Arg441His)

SNV
Germline

Chr16:1584254

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814369

rs_776567773

2 SubmittersRCV001228961 RCV002504304

NM_014714.4(IFT140):c.683C>G (p.Ser228Cys)

SNV
Germline

Chr16:1589732

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7814608

rs_752659125

2 SubmittersRCV001237193 RCV002484297

NM_001297.5(CNGB1):c.2921T>G (p.Met974Arg)

SNV
Germline

Chr16:57901407

Conflicting classifications of pathogenicity

Retinitis pigmentosa 45
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8082761

rs_752967885

3 SubmittersRCV002250733 RCV001225821

NM_001297.5(CNGB1):c.805C>T (p.Gln269Ter)

SNV
Germline

Chr16:57958442

Pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8083679

rs_753776329

2 SubmittersRCV001233231 RCV005253755

NM_201253.3(CRB1):c.601T>C (p.Cys201Arg)

SNV
Germline

Chr1:197328952

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1311661

rs_762835866

2 SubmittersRCV001243685 RCV004570621

NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr)

SNV
Germline

Chr1:197328986

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA344081724

rs_1658699227

4 SubmittersRCV001240151 RCV002491791 RCV003449746 RCV003449748 RCV004545145 RCV003449747

NM_201253.3(CRB1):c.1094G>A (p.Arg365His)

SNV
Germline

Chr1:197356936

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1311804

rs_777528044

3 SubmittersRCV001241405 RCV001828975 RCV003353255

NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys)

SNV
Germline

Chr1:197427748

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA35900848

rs_1009552469

5 SubmittersRCV001245639 RCV001810005 RCV003449775 RCV003449774 RCV005057149 RCV005428149

NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)

SNV
Germline

Chr1:215970653

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394999

rs_151057466

8 SubmittersRCV001239617 RCV001376450 RCV001834098

NM_206933.4(USH2A):c.3406A>G (p.Ser1136Gly)

SNV
Germline

Chr1:216200032

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344868786

rs_2034947671

2 SubmittersRCV001245559 RCV005012676

NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)

SNV
Germline

Chr1:68444593

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Conflicting Classifications

CA902508

rs_767528365

10 SubmittersRCV001244171 RCV001701309 RCV001836228 RCV004813999 RCV004813998 RCV005253763 RCV005036527

NM_000329.3(RPE65):c.421G>T (p.Glu141Ter)

SNV
Germline

Chr1:68444605

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340747854

rs_1469460289

1 SubmittersRCV001245546

NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)

SNV
Germline

Chr1:68446831

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Condition: not provided
RPE65-related recessive retinopathy
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA902590

rs_750724065

5 SubmittersRCV001243775 RCV001829042 RCV001773551 RCV004801934 RCV004556080

NM_000350.3(ABCA4):c.4070C>T (p.Ala1357Val)

SNV
Germline

Chr1:94031836

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341286982

rs_552517556

4 SubmittersRCV001244465 RCV004782683 RCV004814000

NM_201548.5(CERKL):c.1466C>G (p.Thr489Ser)

SNV
Germline

Chr2:181539164

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 26
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2010416

rs_768292284

4 SubmittersRCV001247332 RCV001835295 RCV002568678 RCV003887971

NM_201548.5(CERKL):c.1452G>C (p.Glu484Asp)

SNV
Germline

Chr2:181539178

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 26
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2010424

rs_146279858

3 SubmittersRCV001239252 RCV001834081 RCV004034604

NM_201548.5(CERKL):c.134G>A (p.Arg45Gln)

SNV
Germline

Chr2:181656873

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

CA2010945

rs_568128856

3 SubmittersRCV001243979 RCV001835191

NM_015662.3(IFT172):c.899G>A (p.Arg300Gln)

SNV
Germline

Chr2:27480036

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
not specified
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580840

rs_146332658

5 SubmittersRCV001240662 RCV001595073 RCV001819939 RCV002491796 RCV004548093

NM_001201543.2(FAM161A):c.1787G>A (p.Arg596Gln)

SNV
Germline

Chr2:61836074

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 28
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1679032

rs_201467049

3 SubmittersRCV001245591 RCV001829960 RCV002568627

NM_174878.3(CLRN1):c.606T>G (p.Asn202Lys)

SNV
Germline

Chr3:150928029

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Usher syndrome
Usher syndrome type 3A
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA2666006

rs_746128095

4 SubmittersRCV001246907 RCV003887969 RCV004690033 RCV005038009

NM_001378615.1(CC2D2A):c.149T>A (p.Met50Lys)

SNV
Germline

Chr4:15480729

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2863292

rs_765810643

2 SubmittersRCV001240421 RCV005029819

NM_001379270.1(CNGA1):c.1873C>T (p.Arg625Ter)

SNV
Germline

Chr4:47936609

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 49

Criteria Provided
Multiple Submitters
No Conflicts

CA2911003

rs_376959147

2 SubmittersRCV001248447 RCV005005123

NM_000440.3(PDE6A):c.305G>A (p.Arg102His)

SNV
Germline

Chr5:149944369

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA129059224

rs_750539462

4 SubmittersRCV001246711 RCV004814010 RCV005038008

NM_003322.6(TULP1):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr6:35511759

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA363784635

rs_1309100490

3 SubmittersRCV001247233 RCV003106162 RCV005038010

NM_001142800.2(EYS):c.9414T>G (p.Asp3138Glu)

SNV
Germline

Chr6:63720617

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3876666

rs_374161234

4 SubmittersRCV001238996 RCV001828912 RCV003887947

NM_001142800.2(EYS):c.9185A>G (p.Asn3062Ser)

SNV
Germline

Chr6:63720846

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive retinitis pigmentosa
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3876679

rs_553840761

4 SubmittersRCV001245103 RCV001278441 RCV005340724

NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)

SNV
Germline

Chr6:63789144

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA364385854

rs_1311193836

6 SubmittersRCV001248690 RCV001830049 RCV003887974 RCV003323834

NM_001142800.2(EYS):c.5567G>A (p.Arg1856Gln)

SNV
Germline

Chr6:64590300

Conflicting classifications of pathogenicity

Autosomal recessive retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA140340863

rs_563441026

3 SubmittersRCV001280445 RCV001240007 RCV003353250

NM_001142800.2(EYS):c.4321C>T (p.Gln1441Ter)

SNV
Germline

Chr6:64591546

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364783571

rs_1766410692

3 SubmittersRCV001239419 RCV003469451

NM_001142800.2(EYS):c.4121G>A (p.Arg1374Gln)

SNV
Germline

Chr6:64591746

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3877105

rs_142187896

3 SubmittersRCV001244694 RCV001835211

NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter)

SNV
Germline

Chr6:64822791

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364787971

rs_1764939836

4 SubmittersRCV001241784 RCV001828985

NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)

SNV
Germline

Chr8:43170666

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Retinitis pigmentosa 73
Condition: not provided
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

CA4736594

rs_369292480

6 SubmittersRCV001247922 RCV001250769 RCV002265017 RCV001835315

NM_006269.2(RP1):c.4804C>T (p.Gln1602Ter)

SNV
Germline

Chr8:54628686

Pathogenic

Condition: not provided
Retinitis pigmentosa 1
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA370983225

rs_1359338583

3 SubmittersRCV001243547 RCV001376336 RCV004813994

NM_002900.3(RBP3):c.160C>T (p.Gln54Ter)

SNV
Germline

Chr10:47348644

Pathogenic

Retinitis pigmentosa 66
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5487851

rs_782574616

2 SubmittersRCV001810002 RCV001239290

NM_014714.4(IFT140):c.3526G>A (p.Val1176Met)

SNV
Germline

Chr16:1520736

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7813126

rs_764946729

2 SubmittersRCV001240773 RCV002491798

NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp)

SNV
Germline

Chr16:1584357

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7814399

rs_754373519

2 SubmittersRCV001243980 RCV002504351

NM_014714.4(IFT140):c.883G>A (p.Val295Ile)

SNV
Germline

Chr16:1587952

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7814521

rs_762792738

4 SubmittersRCV001243338 RCV001773548 RCV005012675 RCV003887959

NM_031885.5(BBS2):c.962C>T (p.Thr321Met)

SNV
Germline

Chr16:56502435

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
BBS2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8065856

rs_758548498

5 SubmittersRCV001243382 RCV001829026 RCV002484343 RCV004538507 RCV003365284

NM_201253.3(CRB1):c.2843-1G>T

SNV
Germline

Chr1:197434705

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA344042909

rs_878853368

3 SubmittersRCV001226168 RCV003473786 RCV001828805

NM_206933.4(USH2A):c.7451+1G>A

SNV
Germline

Chr1:215900754

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394854

rs_541848371

2 SubmittersRCV001233874 RCV003462795

NM_206933.4(USH2A):c.7301-1G>A

SNV
Germline

Chr1:215900906

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344850608

rs_1438496892

3 SubmittersRCV001226427 RCV001833957 RCV003462775

NM_206933.4(USH2A):c.1971+1G>T

SNV
Germline

Chr1:216289279

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344902125

rs_2036950570

2 SubmittersRCV001231118 RCV005014276

NM_000329.3(RPE65):c.11+2T>G

SNV
Germline

Chr1:68449893

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902657

rs_778768116

3 SubmittersRCV001230466 RCV001833994 RCV003469408

NM_201548.5(CERKL):c.1365+1G>A

SNV
Germline

Chr2:181544699

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349734326

rs_1687649007

2 SubmittersRCV001237443 RCV004570604

NM_001201543.2(FAM161A):c.1584-2A>G

SNV
Germline

Chr2:61838707

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 28

Criteria Provided
Single Submitter

CA346986221

rs_777319845

2 SubmittersRCV001225797 RCV001828800

NM_001142800.2(EYS):c.6192-1G>T

SNV
Germline

Chr6:64230825

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA3876934

rs_570020451

4 SubmittersRCV001234946 RCV001834035

NM_001142800.2(EYS):c.1185-6T>G

SNV
Germline

Chr6:65384506

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA3877826

rs_565046666

3 SubmittersRCV001237350 RCV001828888

NM_014714.4(IFT140):c.3874-1G>A

SNV
Germline

Chr16:1520048

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7812990

rs_749563050

2 SubmittersRCV001234793 RCV002497804

NM_001297.5(CNGB1):c.3095+1G>A

SNV
Germline

Chr16:57897795

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8082699

rs_758524873

2 SubmittersRCV001234045 RCV005014284

NM_206933.4(USH2A):c.8559-1G>T

SNV
Germline

Chr1:215877881

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344830007

rs_1664816177

2 SubmittersRCV001248098 RCV004570635

NM_206933.4(USH2A):c.6485+5G>A

SNV
Germline

Chr1:216000398

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1139656562

rs_1668240410

3 SubmittersRCV001242662 RCV003462819 RCV005408776

NM_201548.5(CERKL):c.678-1G>A

SNV
Germline

Chr2:181558709

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349741159

rs_1209393896

3 SubmittersRCV001242249 RCV002466648 RCV003469461

NM_015662.3(IFT172):c.4051-1G>A

SNV
Germline

Chr2:27449801

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346422277

rs_1665487115

1 SubmittersRCV001247743

NM_006017.3(PROM1):c.2281-2A>G

SNV
Germline

Chr4:15984357

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 41
Retinal macular dystrophy type 2

Criteria Provided
Single Submitter

CA356427279

rs_1718768311

2 SubmittersRCV001240495 RCV003483805

NM_006017.3(PROM1):c.1682+3A>G

SNV
Germline

Chr4:15998382

Pathogenic

Condition: not provided
Retinitis pigmentosa 41
Retinal macular dystrophy type 2

Criteria Provided
Single Submitter

CA549883535

rs_1326022839

2 SubmittersRCV001240494 RCV003483804

NM_001142800.2(EYS):c.7056-2A>C

SNV
Germline

Chr6:63864360

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA364386708

rs_1772621012

2 SubmittersRCV001248584 RCV001724275

NM_001142800.2(EYS):c.1056+1G>A

SNV
Germline

Chr6:65405173

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364662545

rs_1195522061

3 SubmittersRCV001246553 RCV002307708 RCV003887967

NM_001297.5(CNGB1):c.1122-9G>A

SNV
Germline

Chr16:57940330

Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8083533

rs_750225817

3 SubmittersRCV001247434 RCV004794517 RCV005012684

NM_001377458.1(CLCC1):c.75C>A (p.Asp25Glu)

SNV
Germline

Chr1:108950363

Pathogenic/Likely pathogenic

Retinitis pigmentosa 32
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA983687

rs_750180668

3 SubmittersRCV001248856 RCV001876296 RCV004794519

NM_004798.4(KIF3B):c.748G>C (p.Glu250Gln)

SNV
Germline

Chr20:32310525

Pathogenic

Retinitis pigmentosa 89

No Assertion Criteria Provided

CA408577332

rs_2047794498

1 SubmittersRCV001249562

NM_004798.4(KIF3B):c.1568T>C (p.Leu523Pro)

SNV
Germline

Chr20:32316588

Pathogenic

Retinitis pigmentosa 89

No Assertion Criteria Provided

CA408581581

rs_2047828707

1 SubmittersRCV001249563

NM_201253.3(CRB1):c.687G>A (p.Trp229Ter)

SNV
Germline

Chr1:197344315

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA344083179

rs_1659642467

1 SubmittersRCV001249873

NM_201253.3(CRB1):c.1562C>T (p.Ala521Val)

SNV
Germline

Chr1:197421390

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA344031482

rs_1664306632

1 SubmittersRCV001249877

NM_001029883.3(PCARE):c.2822G>A (p.Trp941Ter)

SNV
Germline

Chr2:29071440

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA346476361

rs_1667480949

2 SubmittersRCV001249866 RCV004814020

NM_001142800.2(EYS):c.113C>A (p.Ser38Ter)

SNV
Germline

Chr6:65495298

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA364790625

rs_1288767318

1 SubmittersRCV001249879

NM_006269.2(RP1):c.1183G>T (p.Glu395Ter)

SNV
Germline

Chr8:54625065

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA370989462

rs_377463031

1 SubmittersRCV001249889

NM_001297.5(CNGB1):c.2104T>A (p.Tyr702Asn)

SNV
Germline

Chr16:57917330

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083175

rs_778003375

2 SubmittersRCV001249872 RCV001879767

NM_006445.4(PRPF8):c.4477A>G (p.Thr1493Ala)

SNV
Germline

Chr17:1661024

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA397576363

rs_1479391155

1 SubmittersRCV001249887

NM_015629.4(PRPF31):c.821T>C (p.Ile274Thr)

SNV
Germline

Chr19:54124622

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA407751375

rs_2073875700

2 SubmittersRCV001249886 RCV001879768

NM_206933.4(USH2A):c.6103T>G (p.Cys2035Gly)

SNV
Germline

Chr1:216048594

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA344859553

rs_2030621345

1 SubmittersRCV001249897

NM_206933.4(USH2A):c.487T>C (p.Cys163Arg)

SNV
Germline

Chr1:216418678

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA344902891

rs_2039619957

1 SubmittersRCV001249900

NM_001297.5(CNGB1):c.1957+2T>G

SNV
Germline

Chr16:57919097

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA8083234

rs_755398007

2 SubmittersRCV005094184 RCV001249870

NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln)

SNV
Germline

Chr6:42704432

Pathogenic/Likely pathogenic

Patterned dystrophy of the retinal pigment epithelium
Retinitis pigmentosa
Condition: not provided
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364134917

rs_1800110989

3 SubmittersRCV001250340 RCV001250341 RCV001530379 RCV001386135

NM_000322.5(PRPH2):c.675T>A (p.Tyr225Ter)

SNV
Germline

Chr6:42704518

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA364135386

rs_1800114066

1 SubmittersRCV001250314

NM_000322.5(PRPH2):c.631T>C (p.Phe211Leu)

SNV
Germline

Chr6:42704562

Pathogenic/Likely pathogenic

Retinitis pigmentosa
PRPH2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364135628

rs_1800116126

3 SubmittersRCV001250289 RCV002570421 RCV001530317

NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe)

SNV
Germline

Chr6:42721841

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA364137430

rs_61755788

3 SubmittersRCV001250330 RCV001530224 RCV001379008

NM_201253.3(CRB1):c.691C>T (p.Gln231Ter)

SNV
Germline

Chr1:197344319

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344083187

rs_1659642763

2 SubmittersRCV001250634 RCV001879782

NM_201253.3(CRB1):c.805C>T (p.Gln269Ter)

SNV
Germline

Chr1:197344433

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344083452

rs_753224594

2 SubmittersRCV001250635 RCV003770299

NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys)

SNV
Germline

Chr1:197427559

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA35900398

rs_28939720

3 SubmittersRCV001250643 RCV001879784

NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter)

SNV
Germline

Chr1:197427791

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344037547

rs_1664669402

2 SubmittersRCV001250650 RCV002568707

NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn)

SNV
Germline

Chr1:197434937

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344045220

rs_62636274

4 SubmittersRCV001250613 RCV003331092 RCV005225328

NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)

SNV
Germline

Chr1:197477800

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344035786

rs_1667264651

6 SubmittersRCV001250641 RCV001879783 RCV002246235 RCV003449809 RCV004800755

NM_000329.3(RPE65):c.993G>A (p.Trp331Ter)

SNV
Germline

Chr1:68438947

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA340744580

rs_1645879569

4 SubmittersRCV001250692 RCV001257822 RCV002570429 RCV004798894

NM_000329.3(RPE65):c.706A>T (p.Lys236Ter)

SNV
Germline

Chr1:68439580

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745946

rs_1645885900

2 SubmittersRCV001250699 RCV001390652

NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)

SNV
Germline

Chr1:68440925

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747062

rs_1189903735

3 SubmittersRCV001250686 RCV003770301 RCV005621087

NM_000329.3(RPE65):c.246-11A>G

SNV
Germline

Chr1:68444894

Likely pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinal dystrophy

Reviewed By Expert Panel

CA23575475

rs_905365719

7 SubmittersRCV001250681 RCV002307711 RCV002570428 RCV002480862 RCV003770300 RCV004814022

NM_152419.3(HGSNAT):c.1252G>C (p.Gly418Arg)

SNV
Germline

Chr8:43192305

Likely pathogenic

Retinitis pigmentosa 73

No Assertion Criteria Provided

CA371119537

rs_1447139472

1 SubmittersRCV001250772

NM_152419.3(HGSNAT):c.1543-2A>C

SNV
Germline

Chr8:43197670

Pathogenic

Retinitis pigmentosa 73

No Assertion Criteria Provided

CA371120398

rs_1804769861

1 SubmittersRCV001250775

NM_015662.3(IFT172):c.1445T>G (p.Val482Gly)

SNV
Germline

Chr2:27472329

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1580642

rs_61740250

4 SubmittersRCV001251461 RCV001314402 RCV004548104 RCV005014307

NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter)

SNV
Germline

ChrX:38285839

Pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412728870

rs_2067118339

2 SubmittersRCV001251571 RCV003647834

NM_001034853.2(RPGR):c.2865G>A (p.Trp955Ter)

SNV
Germline

ChrX:38286134

Pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412729593

rs_2067146202

2 SubmittersRCV001251530 RCV002570455

NM_001034853.2(RPGR):c.2731G>T (p.Glu911Ter)

SNV
Germline

ChrX:38286268

Likely pathogenic

Retinitis pigmentosa 3

No Assertion Criteria Provided

CA412729916

rs_2067159456

1 SubmittersRCV001251522

NM_001034853.2(RPGR):c.2509G>T (p.Glu837Ter)

SNV
Germline

ChrX:38286490

Pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412730478

rs_2067177281

2 SubmittersRCV001251610 RCV002568717

NM_001034853.2(RPGR):c.2425G>T (p.Glu809Ter)

SNV
Germline

ChrX:38286574

Likely pathogenic

Retinitis pigmentosa 3

No Assertion Criteria Provided

CA412730668

rs_1168146969

1 SubmittersRCV001251603

NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter)

SNV
Germline

ChrX:38286616

Likely pathogenic

Retinitis pigmentosa 3
Retinitis pigmentosa

Criteria Provided
Single Submitter

CA412730769

rs_2067183876

2 SubmittersRCV001251597 RCV001724277

NM_001034853.2(RPGR):c.2006G>A (p.Trp669Ter)

SNV
Germline

ChrX:38286993

Pathogenic

Retinitis pigmentosa 3
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412731791

rs_2067196800

3 SubmittersRCV001251560 RCV004719117 RCV002570459

NM_001034853.2(RPGR):c.1787C>A (p.Ser596Ter)

SNV
Germline

ChrX:38287212

Pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412732961

rs_2067202860

2 SubmittersRCV001251557 RCV002570458

NM_001034853.2(RPGR):c.1711C>T (p.Gln571Ter)

SNV
Germline

ChrX:38287903

Likely pathogenic

Retinitis pigmentosa 3

No Assertion Criteria Provided

CA412736871

rs_2067216516

1 SubmittersRCV001251556

NM_001034853.2(RPGR):c.619+2T>A

SNV
Germline

ChrX:38317314

Likely pathogenic

Retinitis pigmentosa 3

No Assertion Criteria Provided

CA412744364

rs_2067844613

1 SubmittersRCV001251550

NM_001034853.2(RPGR):c.173T>A (p.Met58Lys)

SNV
Germline

ChrX:38322927

Likely pathogenic

Retinitis pigmentosa 3

No Assertion Criteria Provided

CA412745669

rs_2067976284

1 SubmittersRCV001251545

NM_001034853.2(RPGR):c.122C>A (p.Ser41Ter)

SNV
Germline

ChrX:38323431

Pathogenic

Retinitis pigmentosa 3
Condition: not provided

Criteria Provided
Single Submitter

CA412745794

rs_2067985937

2 SubmittersRCV001251544 RCV005626371

NM_005530.3(IDH3A):c.716T>C (p.Met239Thr)

SNV
Germline

Chr15:78163717

Pathogenic

Retinitis pigmentosa 90

No Assertion Criteria Provided

CA393545380

rs_2074707744

1 SubmittersRCV001255143

NM_005530.3(IDH3A):c.524C>T (p.Ala175Val)

SNV
Germline

Chr15:78162280

Pathogenic

Retinitis pigmentosa 90

No Assertion Criteria Provided

CA7680594

rs_765473830

1 SubmittersRCV001255145

NM_005530.3(IDH3A):c.463G>T (p.Gly155Ter)

SNV
Germline

Chr15:78161754

Pathogenic

Retinitis pigmentosa 90
Condition: not provided

Criteria Provided
Single Submitter

CA393542793

rs_2074683444

2 SubmittersRCV001255146 RCV002570583

NM_005530.3(IDH3A):c.946C>T (p.Arg316Cys)

SNV
Germline

Chr15:78166231

Pathogenic

Retinitis pigmentosa 90
Condition: not provided

Criteria Provided
Single Submitter

CA7680726

rs_770798851

2 SubmittersRCV001255147 RCV001378483

NM_005530.3(IDH3A):c.612G>A (p.Met204Ile)

SNV
Germline

Chr15:78163507

Pathogenic

Retinitis pigmentosa 90

No Assertion Criteria Provided

CA393544829

rs_2074705330

1 SubmittersRCV001255148

NM_005530.3(IDH3A):c.364G>A (p.Ala122Thr)

SNV
Germline

Chr15:78161655

Conflicting classifications of pathogenicity

Retinitis pigmentosa 90
Condition: not provided

Criteria Provided
Conflicting Classifications

CA273804771

rs_756333430

3 SubmittersRCV001255149 RCV001879931

NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln)

SNV
Germline

Chr6:35500031

Pathogenic

Leber congenital amaurosis 15
Condition: not provided
Retinitis pigmentosa 14

Criteria Provided
Multiple Submitters
No Conflicts

CA137278071

rs_146311742

3 SubmittersRCV001255931 RCV001386008 RCV001810007

NM_001377.3(DYNC2H1):c.6632A>T (p.Glu2211Val)

SNV
Germline

Chr11:103185050

Likely pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA227404652

rs_929322688

1 SubmittersRCV001256163

NM_001080463.2(DYNC2H1):c.9836C>G (p.Ser3279Ter)

SNV
Germline

Chr11:103241543

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA6254796

rs_762578912

1 SubmittersRCV001256164

NM_001377.3(DYNC2H1):c.12695T>G (p.Leu4232Arg)

SNV
Germline

Chr11:103468635

Pathogenic

Autosomal recessive retinitis pigmentosa
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

CA382289961

rs_1945272232

2 SubmittersRCV001256166 RCV003586291

NM_000554.6(CRX):c.292C>T (p.Arg98Ter)

SNV
Germline

Chr19:47839359

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406630343

rs_751018117

3 SubmittersRCV001256189 RCV001879957 RCV005235552

NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter)

SNV
Germline

Chr4:15537063

Pathogenic

Encephalocele
Polycystic kidney disease
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA92530795

rs_980305935

3 SubmittersRCV001257355 RCV001879968 RCV005029847

NM_201253.3(CRB1):c.80G>C (p.Cys27Ser)

SNV
Germline

Chr1:197328431

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA344084975

rs_1460946384

1 SubmittersRCV001257858

NM_201253.3(CRB1):c.80G>T (p.Cys27Phe)

SNV
Germline

Chr1:197328431

Pathogenic/Likely pathogenic

Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344084973

rs_1460946384

3 SubmittersRCV001257868 RCV003473841 RCV003989663

NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser)

SNV
Germline

Chr1:197421291

Conflicting classifications of pathogenicity

Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 13

Criteria Provided
Conflicting Classifications

CA1311925

rs_777377174

3 SubmittersRCV001257861 RCV003770345 RCV004527416

NM_201253.3(CRB1):c.2024G>A (p.Trp675Ter)

SNV
Germline

Chr1:197421852

Pathogenic

Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344033515

rs_1664348016

2 SubmittersRCV001257863 RCV001332031

NM_201253.3(CRB1):c.2701G>T (p.Val901Phe)

SNV
Germline

Chr1:197429473

Likely pathogenic

Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344040443

rs_1664767158

2 SubmittersRCV001257866 RCV003989662

NM_201253.3(CRB1):c.3495T>G (p.Cys1165Trp)

SNV
Germline

Chr1:197435358

Likely pathogenic

Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344048361

rs_1665099725

2 SubmittersRCV001257867 RCV003987818

NM_206933.4(USH2A):c.14294T>C (p.Val4765Ala)

SNV
Germline

Chr1:215650641

Conflicting classifications of pathogenicity

Autosomal recessive retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1393067

rs_763127023

3 SubmittersRCV001257872 RCV003738028 RCV005419058

NM_206933.4(USH2A):c.4033G>C (p.Ala1345Pro)

SNV
Germline

Chr1:216198363

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA344866945

rs_2034900559

1 SubmittersRCV001257906

NM_206933.4(USH2A):c.1923T>A (p.Cys641Ter)

SNV
Germline

Chr1:216289328

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA344902718

rs_2036952419

1 SubmittersRCV001257873

NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)

SNV
Germline

Chr1:216327597

Pathogenic/Likely pathogenic

Autosomal recessive retinitis pigmentosa
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344912812

rs_2037760415

6 SubmittersRCV001257908 RCV002570628 RCV003323835 RCV003449817 RCV003469488 RCV004814035

NM_000329.3(RPE65):c.1129-2A>G

SNV
Germline

Chr1:68431587

Pathogenic

Autosomal recessive retinitis pigmentosa
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340743482

rs_1645826941

2 SubmittersRCV001257815 RCV004801935

NM_000329.3(RPE65):c.515T>A (p.Val172Asp)

SNV
Germline

Chr1:68440981

Likely pathogenic

Autosomal recessive retinitis pigmentosa
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747191

rs_1645898413

2 SubmittersRCV001257820 RCV005253773

NM_000329.3(RPE65):c.310G>C (p.Gly104Arg)

SNV
Germline

Chr1:68444819

Likely pathogenic

Autosomal recessive retinitis pigmentosa
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340748268

rs_767478543

2 SubmittersRCV001257819 RCV005428156

NM_000350.3(ABCA4):c.5642C>G (p.Ala1881Gly)

SNV
Germline

Chr1:94010872

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA341280834

rs_369973540

1 SubmittersRCV001257849

NM_006343.3(MERTK):c.2079+2T>G

SNV
Germline

Chr2:112010068

Pathogenic

Autosomal recessive retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA348234246

rs_1677065097

2 SubmittersRCV001257902 RCV001389470

NM_006343.3(MERTK):c.2219C>T (p.Ala740Val)

SNV
Germline

Chr2:112021451

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA53591400

rs_911057284

1 SubmittersRCV001257904

NM_201548.5(CERKL):c.921C>A (p.Cys307Ter)

SNV
Germline

Chr2:181548832

Pathogenic

Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA2010608

rs_755238456

3 SubmittersRCV001257878 RCV001879981 RCV003989664

NM_006017.3(PROM1):c.1557C>G (p.Tyr519Ter)

SNV
Germline

Chr4:16000517

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA356433022

rs_137853907

1 SubmittersRCV001257888

NM_000283.4(PDE6B):c.1010A>G (p.His337Arg)

SNV
Germline

Chr4:655957

Likely pathogenic

Autosomal recessive retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA355912456

rs_1736178477

2 SubmittersRCV001257885 RCV002570627

NM_006269.2(RP1):c.606C>A (p.Asp202Glu)

SNV
Germline

Chr8:54621572

Pathogenic/Likely pathogenic

Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 1
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA370987409

rs_1805879513

5 SubmittersRCV001257896 RCV003485699 RCV002568760 RCV004814034

NM_006269.2(RP1):c.4552A>T (p.Lys1518Ter)

SNV
Germline

Chr8:54628434

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA370982656

rs_1806144355

1 SubmittersRCV001257894

NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter)

SNV
Germline

Chr10:47349646

Pathogenic

Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 66
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5487594

rs_782245537

5 SubmittersRCV001257783 RCV001376320 RCV003558771

NM_024741.3(ZNF408):c.653-1G>T

SNV
Germline

Chr11:46704352

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA380253880

rs_2064733634

1 SubmittersRCV001257833

NM_000326.5(RLBP1):c.446C>T (p.Ser149Phe)

SNV
Germline

Chr15:89215139

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA393729865

rs_2051568988

1 SubmittersRCV001257812

NM_001297.5(CNGB1):c.2294G>T (p.Arg765Leu)

SNV
Germline

Chr16:57915259

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA396062747

rs_761839551

1 SubmittersRCV001257780

NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys)

SNV
Germline

Chr16:57915260

Likely pathogenic

Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 45
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8083080

rs_771833874

4 SubmittersRCV001257779 RCV001376487 RCV001377367

NM_138393.4(REEP6):c.267G>A (p.Trp89Ter)

SNV
Germline

Chr19:1495526

Pathogenic

Autosomal recessive retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA9047470

rs_761786834

2 SubmittersRCV001257782 RCV005094231

NM_004698.4(PRPF3):c.1504G>C (p.Ala502Pro)

SNV
Germline

Chr1:150344239

Likely pathogenic

Retinitis pigmentosa 18

Criteria Provided
Single Submitter

CA342282465

rs_1658063448

1 SubmittersRCV001261958

NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)

SNV
Germline

Chr4:15557481

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Inborn genetic diseases
CC2D2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2864005

rs_563610095

4 SubmittersRCV001880034 RCV002499450 RCV002541585 RCV005432641

NM_206933.4(USH2A):c.9763C>T (p.Gln3255Ter)

SNV
Germline

Chr1:215799102

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344850064

rs_1662226257

3 SubmittersRCV001262309 RCV002537633

NM_000539.3(RHO):c.67C>T (p.Pro23Ser)

SNV
Unknown

Chr3:129528800

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

CA354495494

rs_104893797

1 SubmittersRCV001262654

NM_001142800.2(EYS):c.9258T>A (p.Tyr3086Ter)

SNV
Unknown

Chr6:63720773

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364382889

rs_1190932109

1 SubmittersRCV001262395

NM_001297.5(CNGB1):c.1881C>A (p.Cys627Ter)

SNV
Unknown

Chr16:57919175

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

CA396065608

rs_369525244

1 SubmittersRCV001262931

NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)

SNV
Germline

ChrX:13760636

Conflicting classifications of pathogenicity

Joubert syndrome 10
Joubert syndrome
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA412344682

rs_1260959326

3 SubmittersRCV001262142 RCV003770364 RCV005040107

NM_006343.3(MERTK):c.1843A>T (p.Lys615Ter)

SNV
Germline

Chr2:112003960

Pathogenic

Retinitis pigmentosa 38

No Assertion Criteria Provided

CA348232902

rs_1676926630

1 SubmittersRCV001267880

NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter)

SNV
Germline

Chr8:43158605

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA371125085

rs_1803166332

2 SubmittersRCV001263600 RCV003770370

NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter)

SNV
Germline

Chr8:43158942

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA371125365

rs_1803181154

2 SubmittersRCV001263602 RCV003770371

NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter)

SNV
Germline

Chr8:43178147

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Synovial plica syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371117099

rs_1803878901

3 SubmittersRCV001263606 RCV001880063 RCV002267635

NM_031885.5(BBS2):c.217C>T (p.Gln73Ter)

SNV
Germline

Chr16:56514581

Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA395985928

rs_199940492

2 SubmittersRCV001264339 RCV005014316

NM_000539.3(RHO):c.50C>A (p.Thr17Lys)

SNV
Germline

Chr3:129528783

Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354495380

rs_104893769

2 SubmittersRCV001265170 RCV001305331

NM_000539.3(RHO):c.116T>G (p.Met39Arg)

SNV
Germline

Chr3:129528849

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354495787

rs_2084756915

2 SubmittersRCV001265172 RCV001384459

NM_000539.3(RHO):c.165C>A (p.Asn55Lys)

SNV
Germline

Chr3:129528898

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354495999

rs_1312862210

2 SubmittersRCV001265173 RCV001880087

NM_000539.3(RHO):c.284T>C (p.Leu95Pro)

SNV
Germline

Chr3:129529017

Conflicting classifications of pathogenicity

Retinitis pigmentosa 4
Condition: not provided
See cases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA354496712

rs_2084758666

4 SubmittersRCV001265178 RCV001345144 RCV004584430 RCV004814042

NM_000539.3(RHO):c.362G>T (p.Gly121Val)

SNV
Germline

Chr3:129530876

Likely pathogenic

Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1

Criteria Provided
Single Submitter

CA354497833

rs_2084774644

1 SubmittersRCV001265183 RCV001265184

NM_000539.3(RHO):c.539C>T (p.Pro180Leu)

SNV
Germline

Chr3:129532259

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354499117

rs_2084785483

2 SubmittersRCV001265192 RCV001880088

NM_000539.3(RHO):c.553T>C (p.Cys185Arg)

SNV
Germline

Chr3:129532273

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354499200

rs_1236550448

3 SubmittersRCV001265194 RCV001377164

NM_000539.3(RHO):c.559T>C (p.Cys187Arg)

SNV
Germline

Chr3:129532279

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

CA354499233

rs_2084785760

1 SubmittersRCV001265195

NM_000539.3(RHO):c.673C>T (p.Gln225Ter)

SNV
Germline

Chr3:129532393

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

CA2607236

rs_752076372

1 SubmittersRCV001265201

NM_000539.3(RHO):c.730C>T (p.Gln244Ter)

SNV
Germline

Chr3:129532566

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

CA354470240

rs_1273934052

1 SubmittersRCV001265202

NM_000539.3(RHO):c.886A>C (p.Lys296Gln)

SNV
Germline

Chr3:129532722

Likely pathogenic

Retinitis pigmentosa 4
Retinal dystrophy

Criteria Provided
Single Submitter

CA354470787

rs_29001653

2 SubmittersRCV001265162 RCV004814041

NM_205861.3(DHDDS):c.104G>A (p.Gly35Glu)

SNV
Germline

Chr1:26438208

Pathogenic/Likely pathogenic

Inborn genetic diseases
Condition: not provided
Retinitis pigmentosa 59

Criteria Provided
Multiple Submitters
No Conflicts

CA339138643

rs_2075181154

3 SubmittersRCV001266622 RCV001577222 RCV001880122

NM_206933.4(USH2A):c.13128G>A (p.Trp4376Ter)

SNV
Germline

Chr1:215674783

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344846482

rs_1349682845

2 SubmittersRCV001268158 RCV003462847

NM_206933.4(USH2A):c.1144-2A>T

SNV
Germline

Chr1:216324354

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344912150

rs_2037686445

5 SubmittersRCV001268230 RCV003446677 RCV003446678 RCV001779148 RCV002491871

NM_206933.4(USH2A):c.176G>A (p.Gly59Glu)

SNV
Germline

Chr1:216422161

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344904669

rs_1378799607

4 SubmittersRCV001268038 RCV003462845 RCV004814046

NM_000329.3(RPE65):c.209T>C (p.Phe70Ser)

SNV
Germline

Chr1:68446746

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA340748969

rs_1645945363

3 SubmittersRCV001268583 RCV005225342 RCV005606796

NM_000350.3(ABCA4):c.4849-2A>G

SNV
Germline

Chr1:94021411

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341283248

rs_1659893796

3 SubmittersRCV001268157 RCV003324561 RCV004814049

NM_001029883.3(PCARE):c.2704A>T (p.Lys902Ter)

SNV
Germline

Chr2:29071558

Pathogenic

Condition: not provided
Retinitis pigmentosa 54

Criteria Provided
Multiple Submitters
No Conflicts

CA346476609

rs_1667483876

3 SubmittersRCV001268684 RCV003989667

NM_001142800.2(EYS):c.7723+1G>A

SNV
Germline

Chr6:63788104

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364384668

rs_1770412895

4 SubmittersRCV001268061 RCV003469498

NM_001142800.2(EYS):c.634C>T (p.Gln212Ter)

SNV
Germline

Chr6:65494777

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA140434955

rs_371915861

3 SubmittersRCV001268037 RCV003462844

NM_014249.4(NR2E3):c.263G>T (p.Gly88Val)

SNV
Germline

Chr15:71811783

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 37
Enhanced S-cone syndrome

Criteria Provided
Conflicting Classifications

CA393032364

rs_1278137915

3 SubmittersRCV001268624 RCV005005130

NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)

SNV
Germline

Chr16:1526044

Conflicting classifications of pathogenicity

Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7813555

rs_767213195

7 SubmittersRCV001268630 RCV001380589 RCV001724283 RCV002290678 RCV005012704

NM_014714.4(IFT140):c.2068-2A>G

SNV
Germline

Chr16:1562118

Likely pathogenic

Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

CA394203967

rs_1489989834

2 SubmittersRCV001267908 RCV002499458

NM_014714.4(IFT140):c.212C>T (p.Pro71Leu)

SNV
Germline

Chr16:1602527

Pathogenic/Likely pathogenic

Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA7814778

rs_772757427

5 SubmittersRCV001268555 RCV001379861 RCV002250740 RCV005432644

NM_001077620.3(PRCD):c.52C>T (p.Arg18Ter)

SNV
Germline

Chr17:76540193

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 36

Criteria Provided
Multiple Submitters
No Conflicts

CA8787807

rs_527451635

5 SubmittersRCV001268227 RCV003887978 RCV005419063 RCV005014323

NM_015629.4(PRPF31):c.1146+2T>G

SNV
Germline

Chr19:54128379

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 11

Criteria Provided
Conflicting Classifications

CA407754075

rs_2073971890

4 SubmittersRCV001268814 RCV001376352

NM_206933.4(USH2A):c.7067A>G (p.Asn2356Ser)

SNV
Unknown

Chr1:215965370

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA1394954

rs_756203141

1 SubmittersRCV001270351

NM_001201543.2(FAM161A):c.1484G>A (p.Arg495His)

SNV
Germline

Chr2:61839520

Conflicting classifications of pathogenicity

Retinitis pigmentosa 28
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1679142

rs_201998260

4 SubmittersRCV001279504 RCV002542926 RCV004978234

NM_001142800.2(EYS):c.6575A>G (p.Asn2192Ser)

SNV
Germline

Chr6:64066488

Conflicting classifications of pathogenicity

Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3876895

rs_750904267

3 SubmittersRCV001279255 RCV002486057 RCV003382495

NM_014249.4(NR2E3):c.229C>T (p.Arg77Trp)

SNV
Germline

Chr15:71811593

Conflicting classifications of pathogenicity

Goldmann-Favre syndrome
Condition: not provided
Enhanced S-cone syndrome
Retinitis pigmentosa 37
Enhanced S-cone syndrome

Criteria Provided
Conflicting Classifications

CA7640247

rs_779903522

4 SubmittersRCV001280215 RCV001871597 RCV003469501 RCV005012712

NM_015629.4(PRPF31):c.140C>A (p.Ser47Ter)

SNV
Germline

Chr19:54118418

Likely pathogenic

Retinitis pigmentosa 11

No Assertion Criteria Provided

CA407789830

rs_2073703461

1 SubmittersRCV001280917

NM_001354768.3(NRL):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr14:24082611

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA389280672

rs_2138875137

1 SubmittersRCV001535429

NM_001278293.3(ARL6):c.29T>A (p.Leu10Ter)

SNV
Germline

Chr3:97768136

Likely pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

rs_2036471593

1 SubmittersRCV005037251

NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)

SNV
Germline

Chr1:46193315

Conflicting classifications of pathogenicity

Intellectual disability
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy type B6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76

Criteria Provided
Conflicting Classifications

CA833500

rs_762972459

8 SubmittersRCV001293357 RCV001760332 RCV001810503 RCV001859239 RCV002538420 RCV003448390 RCV005029861

NM_000283.4(PDE6B):c.1258-2A>G

SNV
Germline

Chr4:657349

Likely pathogenic

Retinitis pigmentosa 40
Condition: not provided

Criteria Provided
Single Submitter

CA355913683

rs_1736402440

2 SubmittersRCV001293399 RCV002543021

NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)

SNV
Germline

Chr14:88841494

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Retinitis pigmentosa 51

Criteria Provided
Multiple Submitters
No Conflicts

CA264584207

rs_376035653

4 SubmittersRCV001293547 RCV004004950 RCV003462854

NM_004311.4(ARL3):c.353G>T (p.Cys118Phe)

SNV
Germline

Chr10:102685964

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5668443

rs_551366324

3 SubmittersRCV001293654 RCV001363129 RCV003887991

NM_004311.4(ARL3):c.91A>G (p.Thr31Ala)

SNV
Germline

Chr10:102705402

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA377923629

rs_2064304102

2 SubmittersRCV001293655 RCV001343201

NM_201253.3(CRB1):c.3996C>G (p.Cys1332Trp)

SNV
Germline

Chr1:197442283

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344052724

rs_1665487563

1 SubmittersRCV001305823

NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys)

SNV
Germline

Chr1:215674397

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
not specified
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA344844917

rs_1268140508

7 SubmittersRCV001305846 RCV001835485 RCV002486190 RCV004690069 RCV003462874 RCV004815312

NM_206933.4(USH2A):c.6225G>T (p.Trp2075Cys)

SNV
Germline

Chr1:216046531

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344858999

rs_1553294134

4 SubmittersRCV004699283 RCV003469514 RCV005014351 RCV001295875

NM_000350.3(ABCA4):c.1019A>C (p.Tyr340Ser)

SNV
Germline

Chr1:94080558

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA341284121

rs_1191143782

3 SubmittersRCV001297313 RCV005029864 RCV004690068

NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)

SNV
Germline

Chr2:27445751

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579433

rs_201840472

7 SubmittersRCV001296225 RCV001699778 RCV002504433 RCV004727091

NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)

SNV
Germline

Chr2:27453511

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Inborn genetic diseases
Bardet-Biedl syndrome
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579843

rs_543062539

5 SubmittersRCV001298479 RCV002486144 RCV002541865 RCV003224553 RCV004548136

NM_001201543.2(FAM161A):c.704C>A (p.Thr235Lys)

SNV
Germline

Chr2:61840300

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 28
FAM161A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1679303

rs_199759978

4 SubmittersRCV001298494 RCV001835418 RCV004731122 RCV002541866

NM_014249.4(NR2E3):c.142C>T (p.Arg48Cys)

SNV
Germline

Chr15:71811506

Conflicting classifications of pathogenicity

Condition: not provided
Enhanced S-cone syndrome
Retinitis pigmentosa 37

Criteria Provided
Conflicting Classifications

CA7640223

rs_763706390

2 SubmittersRCV001298241 RCV002493571

NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln)

SNV
Germline

Chr16:1524905

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Inborn genetic diseases
Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7813433

rs_148240226

4 SubmittersRCV001301469 RCV003346440 RCV003888001 RCV005014366

NM_014714.4(IFT140):c.2054G>A (p.Arg685His)

SNV
Germline

Chr16:1564010

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814037

rs_370263158

3 SubmittersRCV001296505 RCV002493558

NM_014714.4(IFT140):c.1945G>A (p.Val649Met)

SNV
Germline

Chr16:1564119

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7814070

rs_534052238

2 SubmittersRCV002476385 RCV001298461

NM_014714.4(IFT140):c.215C>T (p.Thr72Met)

SNV
Germline

Chr16:1602524

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814775

rs_774892063

3 SubmittersRCV001303056 RCV003888004 RCV005014372

NM_001297.5(CNGB1):c.109G>A (p.Val37Met)

SNV
Germline

Chr16:57967178

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Conflicting Classifications

CA8084002

rs_552372867

2 SubmittersRCV001296361 RCV002493557

NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu)

SNV
Germline

Chr1:197421738

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Conflicting Classifications

CA344032886

rs_1238001290

3 SubmittersRCV001322219 RCV001760407 RCV003449921 RCV003449922 RCV003449923

NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn)

SNV
Germline

Chr1:197421861

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1312021

rs_139463596

3 SubmittersRCV001325558 RCV001831005 RCV003166908

NM_201253.3(CRB1):c.2223G>A (p.Met741Ile)

SNV
Germline

Chr1:197427548

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344036700

rs_1664649489

1 SubmittersRCV001327036

NM_201253.3(CRB1):c.2815T>C (p.Cys939Arg)

SNV
Germline

Chr1:197429587

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344041301

rs_1664775504

1 SubmittersRCV001316680

NM_201253.3(CRB1):c.3853T>C (p.Cys1285Arg)

SNV
Germline

Chr1:197438650

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA344050986

rs_1665279918

2 SubmittersRCV001323343 RCV005614520

NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)

SNV
Germline

Chr1:215674446

Pathogenic

Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344845118

rs_1293619630

5 SubmittersRCV001315188 RCV003235546 RCV003449895 RCV003473854 RCV004796602

NM_206933.4(USH2A):c.12992A>G (p.Tyr4331Cys)

SNV
Germline

Chr1:215674919

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344847917

rs_1423233510

3 SubmittersRCV001324975 RCV001830366 RCV005014424

NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys)

SNV
Germline

Chr1:215900152

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA37451270

rs_937606032

4 SubmittersRCV001316049 RCV003449902 RCV003449903

NM_015662.3(IFT172):c.3851G>A (p.Arg1284Gln)

SNV
Germline

Chr2:27453484

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Inborn genetic diseases
IFT172-related disorder
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1579840

rs_147394910

4 SubmittersRCV001319841 RCV002543786 RCV004548161 RCV005023034

NM_015662.3(IFT172):c.184-6T>A

SNV
Germline

Chr2:27485136

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1581081

rs_371658303

3 SubmittersRCV001313779 RCV002476448 RCV004738243

NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro)

SNV
Germline

Chr6:63720970

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA140236804

rs_569561277

6 SubmittersRCV001320706 RCV001376518 RCV004815364 RCV005432669

NM_014714.4(IFT140):c.3271-5C>T

SNV
Germline

Chr16:1523705

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7813208

rs_368227090

2 SubmittersRCV001317088 RCV002499615

NM_014714.4(IFT140):c.3235G>A (p.Val1079Met)

SNV
Germline

Chr16:1523863

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7813248

rs_146537096

2 SubmittersRCV001312273 RCV002504475

NM_014714.4(IFT140):c.2718C>G (p.Arg906=)

SNV
Germline

Chr16:1525937

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7813519

rs_780540683

2 SubmittersRCV001322378 RCV002493686

NM_014714.4(IFT140):c.2407G>A (p.Val803Ile)

SNV
Germline

Chr16:1526789

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
IFT140-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7813635

rs_538791217

5 SubmittersRCV001327727 RCV002486323 RCV003405554 RCV003169540 RCV004692517

NM_014714.4(IFT140):c.1432+18G>A

SNV
Germline

Chr16:1583296

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7814304

rs_374262499

2 SubmittersRCV001320833 RCV005014409

NM_014714.4(IFT140):c.1169A>G (p.Lys390Arg)

SNV
Germline

Chr16:1584407

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814405

rs_369998823

2 SubmittersRCV001314926 RCV005012760

NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln)

SNV
Germline

Chr16:1586245

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7814447

rs_147556035

3 SubmittersRCV001315861 RCV002486238 RCV001773631

NM_031885.5(BBS2):c.117G>A (p.Lys39=)

SNV
Germline

Chr16:56519746

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Conflicting Classifications

CA8066136

rs_755877218

2 SubmittersRCV001321058 RCV005014410

NM_000554.6(CRX):c.263A>G (p.Lys88Arg)

SNV
Germline

Chr19:47839330

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa
Cone-rod dystrophy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309212205

rs_1001151383

4 SubmittersRCV001320521 RCV001587340 RCV003447588 RCV001532383

NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter)

SNV
Germline

Chr3:97780657

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
ARL6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA353586185

rs_2037147164

3 SubmittersRCV001330111 RCV001859272 RCV003416217

NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)

SNV
Germline

Chr4:122743168

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 12
Retinitis pigmentosa
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA3069413

rs_771456483

5 SubmittersRCV001331784 RCV001587350 RCV001871824

NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)

SNV
Germline

Chr16:1524836

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7813411

rs_766316995

5 SubmittersRCV001333079 RCV002486331 RCV003888030 RCV004987085

NM_001367823.1(ARHGEF18):c.2905-1G>T

SNV
Germline

Chr19:7466917

Likely pathogenic

Retinitis pigmentosa 78
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA9137033

rs_201797784

3 SubmittersRCV001332877 RCV001871841 RCV004815391

NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter)

SNV
Germline

Chr1:215648564

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344833241

rs_1656936749

5 SubmittersRCV003453872 RCV001972407 RCV005008300

NM_206933.4(USH2A):c.4056G>A (p.Trp1352Ter)

SNV
Germline

Chr1:216198340

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344866902

rs_2034899344

1 SubmittersRCV001335661

NM_016247.4(IMPG2):c.2566C>T (p.Gln856Ter)

SNV
Germline

Chr3:101243765

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 56

Criteria Provided
Multiple Submitters
No Conflicts

CA353856595

rs_1706436657

2 SubmittersRCV004815575 RCV001591794

NM_001378615.1(CC2D2A):c.3015-9A>C

SNV
Germline

Chr4:15563346

Conflicting classifications of pathogenicity

COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA92513467

rs_1010285962

3 SubmittersRCV001334752 RCV002070189 RCV005023059

NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter)

SNV
Germline

Chr16:1586246

Pathogenic

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Renal cyst
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA394216213

rs_1166261279

6 SubmittersRCV001785239 RCV002503275 RCV004785311 RCV004815633

NM_001297.5(CNGB1):c.1217G>A (p.Trp406Ter)

SNV
Germline

Chr16:57939585

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8083493

rs_201286463

3 SubmittersRCV001382839 RCV004770069 RCV005419089

NM_201253.3(CRB1):c.1522T>C (p.Cys508Arg)

SNV
Germline

Chr1:197421350

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344031292

rs_1664303657

1 SubmittersRCV001343048

NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser)

SNV
Germline

Chr1:197435549

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
CRB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA35907997

rs_1031415706

4 SubmittersRCV001350386 RCV003473873 RCV005005862 RCV004740672

NM_205861.3(DHDDS):c.366C>T (p.Gly122=)

SNV
Germline

Chr1:26446358

Conflicting classifications of pathogenicity

Retinitis pigmentosa 59
Condition: not provided

Criteria Provided
Conflicting Classifications

CA705320

rs_774001400

3 SubmittersRCV001350415 RCV004691429

NM_000350.3(ABCA4):c.6146A>C (p.Lys2049Thr)

SNV
Germline

Chr1:94005442

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA957021

rs_760481450

3 SubmittersRCV001340590 RCV005057291

NM_000350.3(ABCA4):c.3248T>A (p.Val1083Glu)

SNV
Germline

Chr1:94042841

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA341292199

rs_1660531924

3 SubmittersRCV001350170 RCV004699327 RCV005023077

NM_015662.3(IFT172):c.5069-3C>T

SNV
Germline

Chr2:27445108

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579363

rs_370108416

3 SubmittersRCV001547620 RCV001348672 RCV004548192

NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val)

SNV
Germline

Chr2:27446342

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1579518

rs_757464563

4 SubmittersRCV001352172 RCV002476619 RCV004738264 RCV005253812

NM_000440.3(PDE6A):c.2T>C (p.Met1Thr)

SNV
Germline

Chr5:149944672

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA129059540

rs_943943635

2 SubmittersRCV001340511 RCV005038097

NM_001242957.3(MAK):c.79G>A (p.Gly27Arg)

SNV
Germline

Chr6:10830570

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 62
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA3633840

rs_754916169

3 SubmittersRCV001342546 RCV005038103 RCV004690084

NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg)

SNV
Germline

Chr6:35505766

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA363779654

rs_1761067394

4 SubmittersRCV001346724 RCV001376325 RCV004699323

NM_001142800.2(EYS):c.1675G>A (p.Ala559Thr)

SNV
Germline

Chr6:65335071

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA364661104

rs_1769934918

3 SubmittersRCV001337757 RCV001836323 RCV004978356

NM_001142800.2(EYS):c.1549C>T (p.Pro517Ser)

SNV
Germline

Chr6:65344088

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3877702

rs_763331925

3 SubmittersRCV001337877 RCV001831042 RCV002546828

NM_000883.4(IMPDH1):c.1436C>T (p.Thr479Met)

SNV
Germline

Chr7:128395003

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 10

Criteria Provided
Conflicting Classifications

CA4470828

rs_201001000

5 SubmittersRCV001349260 RCV003888054 RCV003479315

NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)

SNV
Germline

Chr8:43193790

Conflicting classifications of pathogenicity

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
not specified

Criteria Provided
Conflicting Classifications

CA371119881

rs_753355844

3 SubmittersRCV001340284 RCV001831060 RCV005408844

NM_177965.4(CFAP418):c.155+12G>A

SNV
Germline

Chr8:95269023

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 16
Bardet-biedl syndrome 21
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA4815249

rs_371521751

2 SubmittersRCV001349718 RCV002476610

NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser)

SNV
Germline

Chr16:1564092

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814063

rs_778960409

2 SubmittersRCV001339303 RCV002493742

NM_014714.4(IFT140):c.1876T>C (p.Ser626Pro)

SNV
Germline

Chr16:1566186

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Inborn genetic diseases
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814109

rs_200765913

3 SubmittersRCV001340597 RCV004035945 RCV005014453

NM_014714.4(IFT140):c.832G>A (p.Gly278Ser)

SNV
Germline

Chr16:1588003

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7814541

rs_141986611

3 SubmittersRCV001351465 RCV005005865 RCV005340828

NM_014714.4(IFT140):c.561G>T (p.Lys187Asn)

SNV
Germline

Chr16:1592249

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
IFT140-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7814658

rs_139286030

4 SubmittersRCV001344891 RCV002486401 RCV004753291 RCV005340821

NM_014714.4(IFT140):c.179G>A (p.Arg60Lys)

SNV
Germline

Chr16:1602560

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7814790

rs_148093208

4 SubmittersRCV001340494 RCV001773680 RCV002504533 RCV004035941

NM_006445.4(PRPF8):c.5377-1G>T

SNV
Germline

Chr17:1658382

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 13

Criteria Provided
Single Submitter

CA397572428

rs_1911505318

2 SubmittersRCV001337213 RCV001535680

NM_001329556.3(REEP6):c.598+1G>A

SNV
Germline

Chr19:1496672

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 77

Criteria Provided
Conflicting Classifications

CA9047653

rs_751330788

3 SubmittersRCV001340085 RCV004796611

NM_006915.3(RP2):c.969+2T>C

SNV
Germline

ChrX:46877592

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 2

Criteria Provided
Multiple Submitters
No Conflicts

CA413036377

rs_1925392056

2 SubmittersRCV001347060 RCV001376363

NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)

SNV
Germline

Chr1:94021280

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA341282967

rs_1211325812

6 SubmittersRCV001353015 RCV001379165 RCV001724300 RCV004733268

NM_000350.3(ABCA4):c.184C>T (p.Pro62Ser)

SNV
Germline

Chr1:94111556

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA341285594

rs_1355238974

3 SubmittersRCV001352982 RCV003490217 RCV005438072

NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys)

SNV
Unknown

Chr6:42721823

Likely pathogenic

Retinitis pigmentosa 7

Criteria Provided
Single Submitter

CA364137391

rs_1761906682

1 SubmittersRCV001352981

NM_178857.6(RP1L1):c.196G>C (p.Asp66His)

SNV
Unknown

Chr8:10623006

Likely pathogenic

Retinitis pigmentosa 88

Criteria Provided
Single Submitter

CA370300882

rs_760478436

1 SubmittersRCV001352996

NM_001297.5(CNGB1):c.1658C>A (p.Ala553Glu)

SNV
Germline

Chr16:57920530

Conflicting classifications of pathogenicity

Retinitis pigmentosa 45
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083335

rs_374424738

2 SubmittersRCV001353007 RCV002547573

NM_006915.3(RP2):c.884-9T>A

SNV
Germline

ChrX:46877496

Likely pathogenic

Retinitis pigmentosa 2

Criteria Provided
Single Submitter

CA2427738354

rs_1428719874

1 SubmittersRCV001353020

NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp)

SNV
Germline

Chr1:216217518

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396099

rs_150729680

5 SubmittersRCV001358586 RCV003450006 RCV003450007 RCV004815449

NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter)

SNV
Germline

Chr2:29073342

Pathogenic

Condition: not provided
Retinitis pigmentosa 54
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA346481282

rs_1397537890

5 SubmittersRCV001355875 RCV001587369 RCV001724301 RCV004815446

NM_201253.3(CRB1):c.2927T>C (p.Ile976Thr)

SNV
Germline

Chr1:197434790

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344043666

rs_2125498956

1 SubmittersRCV001359699

NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu)

SNV
Germline

Chr1:197434843

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Cone-rod dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Conflicting Classifications

CA344044254

rs_2125499116

3 SubmittersRCV001360674 RCV003324562 RCV003450009 RCV003450008 RCV003450010

NM_206933.4(USH2A):c.4251G>T (p.Gln1417His)

SNV
Germline

Chr1:216196553

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
not specified
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA344866062

rs_2102460239

6 SubmittersRCV001360099 RCV001587370 RCV001587371 RCV004699335 RCV004815453 RCV005005877

NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)

SNV
Germline

Chr1:216196680

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1395802

rs_751479180

6 SubmittersRCV001365783 RCV001376389 RCV005005887 RCV003155401

NM_000350.3(ABCA4):c.4793C>G (p.Ala1598Gly)

SNV
Germline

Chr1:94021695

Pathogenic

Condition: not provided
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

CA341283673

rs_61750155

2 SubmittersRCV001366509 RCV004577354

NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln)

SNV
Germline

Chr1:94108699

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

CA958863

rs_759799179

2 SubmittersRCV001367497 RCV002488138

NM_201548.5(CERKL):c.953T>C (p.Phe318Ser)

SNV
Germline

Chr2:181548800

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 26
not specified

Criteria Provided
Conflicting Classifications

CA2010603

rs_745341953

4 SubmittersRCV001365186 RCV001831256 RCV004699340

NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser)

SNV
Germline

Chr2:27456514

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Inborn genetic diseases
IFT172-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1580022

rs_146615936

5 SubmittersRCV001362818 RCV002504594 RCV003169814 RCV004738267 RCV003132469

NM_015662.3(IFT172):c.1628G>A (p.Arg543Gln)

SNV
Germline

Chr2:27470992

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Inborn genetic diseases
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580580

rs_755926439

3 SubmittersRCV001372396 RCV002548659 RCV004738276

NM_015662.3(IFT172):c.357A>G (p.Gln119=)

SNV
Germline

Chr2:27483917

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinal dystrophy
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1581007

rs_749934202

4 SubmittersRCV001361414 RCV002499730 RCV003888061 RCV004738266

NM_015662.3(IFT172):c.291A>C (p.Glu97Asp)

SNV
Germline

Chr2:27485023

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1581059

rs_189236939

5 SubmittersRCV002254962 RCV001374350 RCV004550094 RCV005023116 RCV005582749

NM_001378615.1(CC2D2A):c.1268G>A (p.Arg423Gln)

SNV
Germline

Chr4:15527565

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA2863623

rs_780924556

2 SubmittersRCV001367647 RCV005023099

NM_001142800.2(EYS):c.8793A>G (p.Gln2931=)

SNV
Germline

Chr6:63721238

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA450862356

rs_1215751447

3 SubmittersRCV001366322 RCV001826049

NM_001142800.2(EYS):c.6571+5G>A

SNV
Germline

Chr6:64081851

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA140278467

rs_991580368

4 SubmittersRCV001364777 RCV001831254

NM_001142800.2(EYS):c.2622G>T (p.Gln874His)

SNV
Germline

Chr6:64912503

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3877268

rs_377592930

3 SubmittersRCV001369654 RCV001826080 RCV004619677

NM_001563.4(IMPG1):c.1876C>T (p.Leu626Phe)

SNV
Germline

Chr6:75947482

Conflicting classifications of pathogenicity

Condition: not provided
Benign concentric annular macular dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA141081007

rs_1051579797

3 SubmittersRCV001373204 RCV002222204 RCV003324563

NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg)

SNV
Germline

Chr9:6565428

Pathogenic/Likely pathogenic

Glycine encephalopathy
Retinitis pigmentosa
Glycine encephalopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA4980499

rs_758575745

3 SubmittersRCV001360323 RCV004545214 RCV005040214

NM_014249.4(NR2E3):c.349G>A (p.Ala117Thr)

SNV
Germline

Chr15:71811869

Conflicting classifications of pathogenicity

Condition: not provided
Enhanced S-cone syndrome
Retinitis pigmentosa 37

Criteria Provided
Conflicting Classifications

CA393033772

rs_1259983553

4 SubmittersRCV001370244 RCV001826087 RCV003447593

NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn)

SNV
Germline

Chr16:1510955

Conflicting classifications of pathogenicity

Inborn genetic diseases
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7812767

rs_777181948

3 SubmittersRCV004037069 RCV002504612 RCV001369014

NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn)

SNV
Germline

Chr16:1586255

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7814448

rs_201871050

2 SubmittersRCV001367739 RCV002488140

NM_001297.5(CNGB1):c.2029C>T (p.Arg677Cys)

SNV
Germline

Chr16:57917405

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8083195

rs_368329828

2 SubmittersRCV001359696 RCV005014483

NM_012106.4(ARL2BP):c.293+5G>A

SNV
Germline

Chr16:57249857

Likely pathogenic

Retinitis pigmentosa with or without situs inversus
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8074911

rs_751471386

2 SubmittersRCV001726538 RCV001871962

NM_178857.6(RP1L1):c.6530T>G (p.Leu2177Ter)

SNV
Germline

Chr8:10607568

Pathogenic

Retinitis pigmentosa 88

Criteria Provided
Single Submitter

CA4623276

rs_777475406

1 SubmittersRCV001376184

NM_201253.3(CRB1):c.1696G>T (p.Glu566Ter)

SNV
Germline

Chr1:197421524

Likely pathogenic

Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344032127

rs_767359805

1 SubmittersRCV001376347

NM_201253.3(CRB1):c.1922G>C (p.Gly641Ala)

SNV
Germline

Chr1:197421750

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA344032908

rs_2125471502

2 SubmittersRCV001376384 RCV001865898

NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser)

SNV
Germline

Chr1:215650650

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344835160

rs_1254637647

4 SubmittersRCV001376408 RCV001871988

NM_206933.4(USH2A):c.12848T>C (p.Ile4283Thr)

SNV
Germline

Chr1:215675063

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344848747

rs_754131049

1 SubmittersRCV001376354

NM_206933.4(USH2A):c.11389+1G>T

SNV
Germline

Chr1:215758594

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1393758

rs_368770647

4 SubmittersRCV001376509 RCV001865905

NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro)

SNV
Germline

Chr1:215900791

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA344849577

rs_2102470142

2 SubmittersRCV001376280

NM_206933.4(USH2A):c.6267T>A (p.Cys2089Ter)

SNV
Germline

Chr1:216046489

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA1395185

rs_755646290

1 SubmittersRCV001376461

NM_206933.4(USH2A):c.5598T>C (p.Val1866=)

SNV
Germline

Chr1:216073275

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1395405

rs_771810761

2 SubmittersRCV001376533 RCV001445868

NM_206933.4(USH2A):c.5530C>T (p.Gln1844Ter)

SNV
Germline

Chr1:216078131

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344855767

rs_761075303

4 SubmittersRCV001376286 RCV001380848

NM_206933.4(USH2A):c.4251+1G>T

SNV
Germline

Chr1:216196552

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344866056

rs_878853405

4 SubmittersRCV001376344 RCV001389192

NM_206933.4(USH2A):c.3828T>G (p.Tyr1276Ter)

SNV
Germline

Chr1:216198568

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344867382

rs_2034908815

4 SubmittersRCV001376244 RCV001865891 RCV005606814

NM_206933.4(USH2A):c.3506G>A (p.Trp1169Ter)

SNV
Germline

Chr1:216199932

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344868368

rs_2102467034

2 SubmittersRCV001376463 RCV003542344

NM_006343.3(MERTK):c.1090G>T (p.Glu364Ter)

SNV
Germline

Chr2:111975418

Pathogenic

Retinitis pigmentosa 38
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA348233673

rs_868566811

2 SubmittersRCV001376204 RCV002550230

NM_006343.3(MERTK):c.2190-1G>T

SNV
Germline

Chr2:112021421

Pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348238584

rs_2104423659

1 SubmittersRCV001376471

NM_201548.5(CERKL):c.109C>T (p.Gln37Ter)

SNV
Germline

Chr2:181656898

Pathogenic/Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349744807

rs_1414280804

2 SubmittersRCV001376312

NM_001029883.3(PCARE):c.1894A>T (p.Lys632Ter)

SNV
Germline

Chr2:29072368

Likely pathogenic

Retinitis pigmentosa 54

Criteria Provided
Single Submitter

CA346478687

rs_1238711555

1 SubmittersRCV001376485

NM_001029883.3(PCARE):c.1612C>T (p.Gln538Ter)

SNV
Germline

Chr2:29072650

Likely pathogenic

Retinitis pigmentosa 54

Criteria Provided
Single Submitter

CA346479298

rs_2148416171

1 SubmittersRCV001376395

NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter)

SNV
Germline

Chr2:61839514

Pathogenic/Likely pathogenic

Retinitis pigmentosa 28
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346986416

rs_2105080547

3 SubmittersRCV001376418 RCV001871989

NM_000440.3(PDE6A):c.205C>T (p.Gln69Ter)

SNV
Germline

Chr5:149944469

Pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

CA361700930

rs_1450419928

1 SubmittersRCV001376484

NM_003322.6(TULP1):c.932G>A (p.Arg311Gln)

SNV
Germline

Chr6:35506070

Pathogenic/Likely pathogenic

Retinitis pigmentosa 14
Condition: not provided
TULP1-related disorder
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA363780228

rs_1279906432

4 SubmittersRCV001376468 RCV001865902 RCV004531183 RCV005038158

NM_003322.6(TULP1):c.187G>T (p.Gly63Ter)

SNV
Germline

Chr6:35512183

Pathogenic

Retinitis pigmentosa 14
Condition: not provided
TULP1-related disorder
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA3773004

rs_757725696

4 SubmittersRCV001376483 RCV003771221 RCV004531184 RCV005038159

NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)

SNV
Germline

Chr6:63721425

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided
EYS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA140236840

rs_933169926

7 SubmittersRCV001376254 RCV001724305 RCV001865893 RCV003416296

NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)

SNV
Germline

Chr6:63778094

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA140242861

rs_1015857165

7 SubmittersRCV001376421 RCV001871990 RCV003888076 RCV005432695

NM_001142800.2(EYS):c.3606C>A (p.Cys1202Ter)

SNV
Germline

Chr6:64617496

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364785144

rs_1297699863

1 SubmittersRCV001376307

NM_001142800.2(EYS):c.2461G>T (p.Gly821Ter)

SNV
Germline

Chr6:64912664

Pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364786463

rs_2150076887

1 SubmittersRCV001376319

NM_001142800.2(EYS):c.1056+3A>C

SNV
Germline

Chr6:65405171

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA3877896

rs_747923761

3 SubmittersRCV001376359

NM_006269.2(RP1):c.1126C>T (p.Arg376Ter)

SNV
Germline

Chr8:54625008

Pathogenic/Likely pathogenic

Retinitis pigmentosa 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4751325

rs_760689800

2 SubmittersRCV001376205 RCV001871981

NM_006269.2(RP1):c.2515C>T (p.Gln839Ter)

SNV
Germline

Chr8:54626397

Likely pathogenic

Retinitis pigmentosa 1

Criteria Provided
Single Submitter

CA370994016

rs_2129316679

1 SubmittersRCV001376337

NM_001354768.3(NRL):c.152C>A (p.Pro51His)

SNV
Germline

Chr14:24082697

Likely pathogenic

Retinitis pigmentosa 27
Retinal dystrophy

Criteria Provided
Single Submitter

CA389281582

rs_2036353653

2 SubmittersRCV001376379 RCV004815501

NM_014249.4(NR2E3):c.151G>A (p.Gly51Arg)

SNV
Germline

Chr15:71811515

Conflicting classifications of pathogenicity

Retinitis pigmentosa 37
Condition: not provided
Enhanced S-cone syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7640229

rs_544807110

4 SubmittersRCV001376380 RCV001871986 RCV003462941 RCV003888075

NM_001297.5(CNGB1):c.2635-2A>T

SNV
Germline

Chr16:57903983

Likely pathogenic

Retinitis pigmentosa 45
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA396058280

rs_2149358592

2 SubmittersRCV001376232 RCV001871982

NM_001297.5(CNGB1):c.2634+2T>C

SNV
Germline

Chr16:57904732

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

CA396058421

rs_2149359022

1 SubmittersRCV001376253

NM_006445.4(PRPF8):c.6926A>T (p.His2309Leu)

SNV
Germline

Chr17:1650884

Conflicting classifications of pathogenicity

Retinitis pigmentosa 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397562042

rs_121434236

2 SubmittersRCV001376348 RCV003542343

NM_015629.4(PRPF31):c.523C>T (p.Gln175Ter)

SNV
Germline

Chr19:54123556

Pathogenic/Likely pathogenic

Retinitis pigmentosa 11
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA407750404

rs_2146418999

3 SubmittersRCV001376265 RCV001871984 RCV004815500

NM_015629.4(PRPF31):c.855+5G>A

SNV
Germline

Chr19:54124661

Conflicting classifications of pathogenicity

Retinitis pigmentosa 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499225594

rs_2146426154

2 SubmittersRCV001376536 RCV001865906

NM_001034853.2(RPGR):c.2071G>T (p.Glu691Ter)

SNV
Germline

ChrX:38286928

Pathogenic/Likely pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412731522

rs_2147199844

2 SubmittersRCV001376511 RCV002550240

NM_001034853.2(RPGR):c.1880C>A (p.Ser627Ter)

SNV
Germline

ChrX:38287119

Likely pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

CA412732441

rs_2147200625

1 SubmittersRCV001376227

NM_001034853.2(RPGR):c.1754-3C>G

SNV
Germline

ChrX:38287248

Pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia
RPGR-related retinopathy

Reviewed By Expert Panel

CA412733107

rs_2147201026

3 SubmittersRCV001376287 RCV002550232 RCV005623428

NM_001034853.2(RPGR):c.196C>T (p.Gln66Ter)

SNV
Germline

ChrX:38322904

Likely pathogenic

Retinitis pigmentosa 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412745610

rs_2147290510

2 SubmittersRCV001376217 RCV002464455

NM_006915.3(RP2):c.103-2A>G

SNV
Germline

ChrX:46853474

Likely pathogenic

Retinitis pigmentosa 2

Criteria Provided
Single Submitter

CA413038777

rs_2147081133

1 SubmittersRCV001376282

NM_201253.3(CRB1):c.71-2A>G

SNV
Germline

Chr1:197328420

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344084945

rs_1383691293

3 SubmittersRCV001379038 RCV001831365 RCV003473913

NM_201253.3(CRB1):c.849-2A>G

SNV
Germline

Chr1:197347338

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA36048735

rs_988534225

2 SubmittersRCV001378415 RCV004570929

NM_201253.3(CRB1):c.1172-2A>G

SNV
Germline

Chr1:197420998

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344027934

rs_2125468772

2 SubmittersRCV001377494 RCV004570924

NM_201253.3(CRB1):c.1172-1G>T

SNV
Germline

Chr1:197420999

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344027945

rs_2125468776

1 SubmittersRCV001379001

NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr)

SNV
Germline

Chr1:197421177

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA1311910

rs_746597173

3 SubmittersRCV001379460 RCV005432698 RCV005614530

NM_201253.3(CRB1):c.1439G>C (p.Cys480Ser)

SNV
Germline

Chr1:197421267

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344030908

rs_62636265

2 SubmittersRCV001378739 RCV004789562

NM_201253.3(CRB1):c.1690G>A (p.Asp564Asn)

SNV
Germline

Chr1:197421518

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1311958

rs_757279881

1 SubmittersRCV001377887

NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys)

SNV
Germline

Chr1:197421933

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344034221

rs_1180527322

3 SubmittersRCV001377318 RCV003473900 RCV004699350

NM_201253.3(CRB1):c.2128+1G>C

SNV
Germline

Chr1:197421957

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344034340

rs_2125472205

2 SubmittersRCV001379356 RCV003473917

NM_201253.3(CRB1):c.2537G>A (p.Gly846Glu)

SNV
Germline

Chr1:197427862

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1312135

rs_772476137

1 SubmittersRCV001378912

NM_201253.3(CRB1):c.3493T>C (p.Cys1165Arg)

SNV
Germline

Chr1:197435356

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1312346

rs_767368951

2 SubmittersRCV001378741 RCV005235577

NM_201253.3(CRB1):c.4006-1G>C

SNV
Germline

Chr1:197477663

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344035368

rs_752804194

1 SubmittersRCV001376938

NM_206933.4(USH2A):c.12525G>C (p.Trp4175Cys)

SNV
Germline

Chr1:215675386

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344850718

rs_1657987278

2 SubmittersRCV001377319 RCV003473901

NM_206933.4(USH2A):c.7300+1G>C

SNV
Germline

Chr1:215934615

Likely pathogenic

Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344857088

rs_1343780391

4 SubmittersRCV001377091 RCV002222707 RCV003446733 RCV003462944

NM_206933.4(USH2A):c.6163+1G>A

SNV
Germline

Chr1:216048533

Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344859382

rs_2030617696

4 SubmittersRCV001377391 RCV001826127 RCV003469625 RCV005005903

NM_206933.4(USH2A):c.4885+1G>A

SNV
Germline

Chr1:216089012

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37449051

rs_150896588

2 SubmittersRCV001377634 RCV003462952

NM_206933.4(USH2A):c.2809+1G>C

SNV
Germline

Chr1:216246584

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344863988

rs_759433119

3 SubmittersRCV001377902 RCV001831348 RCV003462953

NM_206933.4(USH2A):c.848+1G>T

SNV
Germline

Chr1:216327590

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344912795

rs_2102658764

3 SubmittersRCV001378809 RCV003473912 RCV004815506

NM_205861.3(DHDDS):c.658-2A>G

SNV
Germline

Chr1:26460035

Likely pathogenic

Retinitis pigmentosa 59
Developmental delay and seizures with or without movement abnormalities
Retinitis pigmentosa 59

Criteria Provided
Multiple Submitters
No Conflicts

CA339144991

rs_1248671884

3 SubmittersRCV001377031 RCV002499773

NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser)

SNV
Germline

Chr1:46189540

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA340171031

rs_886044567

3 SubmittersRCV001378149 RCV005014515 RCV004587149

NM_017739.4(POMGNT1):c.1649+1G>A

SNV
Germline

Chr1:46190472

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76

Criteria Provided
Conflicting Classifications

CA833286

rs_752700398

3 SubmittersRCV001378427 RCV002550248 RCV005023125

NM_000329.3(RPE65):c.1243+1G>A

SNV
Germline

Chr1:68431470

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340742782

rs_1421696563

2 SubmittersRCV001378085 RCV005001218

NM_000329.3(RPE65):c.496-1G>A

SNV
Germline

Chr1:68441001

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747238

rs_2100821984

2 SubmittersRCV001379142 RCV003462960

NM_000329.3(RPE65):c.354-1G>A

SNV
Germline

Chr1:68444673

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA340748038

rs_2100827985

2 SubmittersRCV001377276 RCV001826126

NM_000329.3(RPE65):c.344T>C (p.Ile115Thr)

SNV
Germline

Chr1:68444785

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA340748119

rs_1645929674

4 SubmittersRCV001377673 RCV003469629 RCV004596449 RCV005237765

NM_000329.3(RPE65):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:68449903

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA340750383

rs_1357241537

2 SubmittersRCV001379122 RCV004801002

NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val)

SNV
Germline

Chr1:94031024

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA341286133

rs_2101035728

4 SubmittersRCV001377316 RCV004815504 RCV005408879

NM_000350.3(ABCA4):c.3522+1G>A

SNV
Germline

Chr1:94041208

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA341290380

rs_1265840106

2 SubmittersRCV001378602 RCV005023127

NM_201548.5(CERKL):c.1073+1G>A

SNV
Germline

Chr2:181548679

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA349736710

rs_1283658402

2 SubmittersRCV001379291 RCV001826151

NM_201548.5(CERKL):c.820+2C>G

SNV
Germline

Chr2:181558564

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349740033

rs_1328971667

2 SubmittersRCV001377413 RCV003473902

NM_201548.5(CERKL):c.677+547G>C

SNV
Germline

Chr2:181565511

Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA61598535

rs_1044562973

3 SubmittersRCV001379810 RCV002469386 RCV005023129

NM_015662.3(IFT172):c.5069-2A>G

SNV
Germline

Chr2:27445107

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346413161

rs_2148464837

1 SubmittersRCV001379241

NM_015662.3(IFT172):c.910-2A>G

SNV
Germline

Chr2:27479606

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346396688

rs_2148546998

1 SubmittersRCV001377047

NM_005869.4(CWC27):c.938+2T>C

SNV
Germline

Chr5:64804388

Likely pathogenic

Condition: not provided
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3282126

rs_767210188

2 SubmittersRCV001379958 RCV005038173

NM_001242957.3(MAK):c.101+1G>A

SNV
Germline

Chr6:10830547

Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA362721683

rs_1300819259

2 SubmittersRCV001376926 RCV002307736

NM_000322.5(PRPH2):c.625G>A (p.Val209Ile)

SNV
Germline

Chr6:42704568

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 7
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3808567

rs_753657349

5 SubmittersRCV001530314 RCV002051942 RCV001378480

NM_001142800.2(EYS):c.6415T>C (p.Cys2139Arg)

SNV
Germline

Chr6:64230601

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA364391155

rs_1378663182

3 SubmittersRCV001377570 RCV003462951 RCV004801001

NM_001142800.2(EYS):c.5836-1G>C

SNV
Germline

Chr6:64436266

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364392483

rs_2150463984

3 SubmittersRCV001378098 RCV003888078 RCV005253823

NM_001142800.2(EYS):c.2739-1G>T

SNV
Germline

Chr6:64902221

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA140379019

rs_943468139

2 SubmittersRCV001378543 RCV003469634

NM_001142800.2(EYS):c.2739-1G>A

SNV
Germline

Chr6:64902221

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364785797

rs_943468139

2 SubmittersRCV001377238 RCV001826125

NM_001142800.2(EYS):c.2641+2T>C

SNV
Germline

Chr6:64912482

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA140380267

rs_960578029

2 SubmittersRCV001376874 RCV001836382

NM_001142800.2(EYS):c.1184+1G>A

SNV
Germline

Chr6:65402477

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364662244

rs_2150363733

2 SubmittersRCV001379911 RCV005038172

NM_001142800.2(EYS):c.863-2A>C

SNV
Germline

Chr6:65405369

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA3877940

rs_761229979

2 SubmittersRCV001379124 RCV001826150

NM_152419.3(HGSNAT):c.563+2T>A

SNV
Germline

Chr8:43161509

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA371115879

rs_2130722124

1 SubmittersRCV001379518

NM_144596.4(TTC8):c.799-2A>G

SNV
Germline

Chr14:88861220

Likely pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa 51

Criteria Provided
Multiple Submitters
No Conflicts

CA7302602

rs_771218088

2 SubmittersRCV001378356 RCV004570928

NM_014249.4(NR2E3):c.925C>G (p.Arg309Gly)

SNV
Germline

Chr15:71813566

Pathogenic

Condition: not provided
NR2E3-related disorder
Enhanced S-cone syndrome
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA393037479

rs_774102273

5 SubmittersRCV001379522 RCV004531189 RCV001831369 RCV005057350

NM_031885.5(BBS2):c.1397+1G>A

SNV
Germline

Chr16:56500853

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA395979266

rs_1225299095

2 SubmittersRCV001378131 RCV005014514

NM_001297.5(CNGB1):c.583+2T>C

SNV
Germline

Chr16:57960480

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8083759

rs_755036276

2 SubmittersRCV001376888 RCV005005901

NM_001297.5(CNGB1):c.290+2T>C

SNV
Germline

Chr16:57964128

Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA396079943

rs_1429797650

2 SubmittersRCV001377501 RCV003323871

NM_138393.4(REEP6):c.209+1G>A

SNV
Germline

Chr19:1495388

Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA9047430

rs_112200356

2 SubmittersRCV001378849 RCV005419109

NM_201253.3(CRB1):c.653-1G>A

SNV
Germline

Chr1:197344280

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344082989

rs_760287363

5 SubmittersRCV001380026 RCV001587386 RCV003319471

NM_201253.3(CRB1):c.718C>T (p.Gln240Ter)

SNV
Germline

Chr1:197344346

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344083247

rs_2125328350

1 SubmittersRCV001387134

NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter)

SNV
Germline

Chr1:197421479

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1311947

rs_768107603

3 SubmittersRCV001386224 RCV003473963 RCV005005919

NM_201253.3(CRB1):c.1700G>A (p.Trp567Ter)

SNV
Germline

Chr1:197421528

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344032149

rs_2125470583

1 SubmittersRCV001387606

NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)

SNV
Germline

Chr1:197421659

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1311991

rs_769909288

5 SubmittersRCV001831405 RCV001390796 RCV003451695 RCV002488213 RCV003451693 RCV003451694

NM_201253.3(CRB1):c.2718G>A (p.Trp906Ter)

SNV
Germline

Chr1:197429490

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344040512

rs_2125488868

2 SubmittersRCV001382300 RCV003473939

NM_201253.3(CRB1):c.2767G>T (p.Glu923Ter)

SNV
Germline

Chr1:197429539

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344040942

rs_2125489019

1 SubmittersRCV001382442

NM_201253.3(CRB1):c.2818C>T (p.Gln940Ter)

SNV
Germline

Chr1:197429590

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344041314

rs_2125489182

1 SubmittersRCV001385188

NM_201253.3(CRB1):c.3958C>T (p.Gln1320Ter)

SNV
Germline

Chr1:197442245

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344052620

rs_1246546027

2 SubmittersRCV001384585 RCV003473953

NM_201253.3(CRB1):c.4005+1G>C

SNV
Germline

Chr1:197442293

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344052782

rs_890453675

1 SubmittersRCV001387814

NM_201253.3(CRB1):c.4006-1G>T

SNV
Germline

Chr1:197477663

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344035365

rs_752804194

4 SubmittersRCV001390944 RCV002499822 RCV003446739 RCV003446738 RCV003446740

NM_206933.4(USH2A):c.13215C>A (p.Cys4405Ter)

SNV
Germline

Chr1:215674696

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1393330

rs_370176892

2 SubmittersRCV001386343 RCV004570962

NM_206933.4(USH2A):c.9371+1G>A

SNV
Germline

Chr1:215837990

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344834530

rs_41308425

2 SubmittersRCV001383267 RCV003469690

NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter)

SNV
Germline

Chr1:216048566

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344859450

rs_1209837469

4 SubmittersRCV001388190 RCV002499807 RCV003450079 RCV003450078

NM_206933.4(USH2A):c.5485C>T (p.Gln1829Ter)

SNV
Germline

Chr1:216078176

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344855988

rs_2102554289

3 SubmittersRCV001386383 RCV003463014

NM_206933.4(USH2A):c.1841-1G>A

SNV
Germline

Chr1:216289411

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344902972

rs_2102606531

3 SubmittersRCV001387464 RCV005014539 RCV003469733

NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu)

SNV
Germline

Chr1:68431106

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340741897

rs_774211361

3 SubmittersRCV001383020 RCV003128763 RCV003469687

NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)

SNV
Germline

Chr1:68431116

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340741972

rs_1395763356

3 SubmittersRCV001381888 RCV003469666 RCV003771239

NM_000329.3(RPE65):c.1028T>G (p.Leu343Ter)

SNV
Germline

Chr1:68438287

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340744362

rs_2100817136

1 SubmittersRCV001384746

NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter)

SNV
Germline

Chr1:68439028

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340744922

rs_2100818575

2 SubmittersRCV001382384 RCV003469676

NM_000329.3(RPE65):c.637C>T (p.Gln213Ter)

SNV
Germline

Chr1:68440859

Pathogenic/Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340746765

rs_777966849

2 SubmittersRCV001389735 RCV003469763

NM_000329.3(RPE65):c.545A>G (p.His182Arg)

SNV
Germline

Chr1:68440951

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA340747132

rs_1459110114

3 SubmittersRCV001388256 RCV004527424 RCV003469740

NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)

SNV
Germline

Chr1:68446755

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis

Reviewed By Expert Panel

CA340749010

rs_1344724754

4 SubmittersRCV001380404 RCV003469648 RCV003771233 RCV005606818

NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)

SNV
Germline

Chr1:68448624

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902623

rs_768448761

3 SubmittersRCV001380405 RCV001826156 RCV003469649

NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln)

SNV
Germline

Chr1:94019664

Conflicting classifications of pathogenicity

Condition: not provided
ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

CA957375

rs_61753021

5 SubmittersRCV001384258 RCV004733282 RCV004563873 RCV005361592

NM_000350.3(ABCA4):c.1761-2A>G

SNV
Germline

Chr1:94062755

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA958426

rs_754765164

4 SubmittersRCV001386479 RCV002225134 RCV005038198 RCV005361594

NM_201548.5(CERKL):c.526C>T (p.Gln176Ter)

SNV
Germline

Chr2:181573840

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA61603448

rs_988540767

2 SubmittersRCV001381702 RCV003226469

NM_201548.5(CERKL):c.8G>A (p.Trp3Ter)

SNV
Germline

Chr2:181656999

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349746013

rs_2105569550

2 SubmittersRCV001388834 RCV003469747

NM_015662.3(IFT172):c.4508G>A (p.Trp1503Ter)

SNV
Germline

Chr2:27447843

Pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Single Submitter

CA346417265

rs_1665288663

1 SubmittersRCV001381451

NM_015662.3(IFT172):c.3949A>T (p.Lys1317Ter)

SNV
Germline

Chr2:27453386

Pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Single Submitter

CA346377580

rs_2148485970

1 SubmittersRCV001390978

NM_015662.3(IFT172):c.3944G>A (p.Trp1315Ter)

SNV
Germline

Chr2:27453391

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA1579814

rs_778898472

1 SubmittersRCV001388444

NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)

SNV
Germline

Chr2:27453658

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Multiple Submitters
No Conflicts

CA44489951

rs_999731005

2 SubmittersRCV001380017 RCV002476718

NM_015662.3(IFT172):c.2646C>A (p.Cys882Ter)

SNV
Germline

Chr2:27459519

Pathogenic/Likely pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20

Criteria Provided
Multiple Submitters
No Conflicts

CA346382439

rs_1309394469

2 SubmittersRCV001389719 RCV005014547

NM_001201543.2(FAM161A):c.1849C>T (p.Gln617Ter)

SNV
Germline

Chr2:61836012

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 28

Criteria Provided
Multiple Submitters
No Conflicts

CA346985613

rs_2105073672

3 SubmittersRCV001380347 RCV003145650

NM_001201543.2(FAM161A):c.70G>T (p.Gly24Ter)

SNV
Germline

Chr2:61853972

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 28

Criteria Provided
Multiple Submitters
No Conflicts

CA346990009

rs_2105111295

4 SubmittersRCV001389558 RCV003226472 RCV003469759

NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter)

SNV
Germline

Chr2:73432207

Pathogenic

Alstrom syndrome
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA347262455

rs_2103734325

2 SubmittersRCV001381078 RCV005419111

NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter)

SNV
Germline

Chr3:97768111

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 1
ARL6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2505833

rs_771628868

3 SubmittersRCV001389155 RCV002246376 RCV004746364

NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter)

SNV
Germline

Chr4:15533264

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356410983

rs_2109029867

4 SubmittersRCV001387946 RCV001814315 RCV004733283 RCV004796624

NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter)

SNV
Germline

Chr4:15989785

Pathogenic

Condition: not provided
Stargardt disease
Cone-rod dystrophy 12
Retinitis pigmentosa 41

Criteria Provided
Multiple Submitters
No Conflicts

CA356430225

rs_1324631413

3 SubmittersRCV001383295 RCV002466268 RCV005253830

NM_001379270.1(CNGA1):c.1525G>A (p.Gly509Arg)

SNV
Germline

Chr4:47936957

Pathogenic

Condition: not provided
Retinitis pigmentosa 49
CNGA1-related retinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA2911062

rs_544588016

3 SubmittersRCV001380418 RCV003222314 RCV005361586

NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)

SNV
Germline

Chr4:662584

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 40
Congenital stationary night blindness autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

CA2794682

rs_764605140

4 SubmittersRCV001382537 RCV002272466 RCV001702590

NM_001242957.3(MAK):c.7C>T (p.Arg3Ter)

SNV
Germline

Chr6:10830642

Pathogenic/Likely pathogenic

Condition: not provided
MAK-related disorder
Retinitis pigmentosa 62

Criteria Provided
Multiple Submitters
No Conflicts

CA3633858

rs_558628181

3 SubmittersRCV001384965 RCV003973223 RCV004557581

NM_003322.6(TULP1):c.1255C>T (p.Arg419Trp)

SNV
Germline

Chr6:35503627

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA363779166

rs_775334320

4 SubmittersRCV001380965 RCV003888081 RCV005038176

NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)

SNV
Germline

Chr6:42704501

Pathogenic/Likely pathogenic

PRPH2-related disorder
Condition: not provided
Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 7

Criteria Provided
Multiple Submitters
No Conflicts

CA364135285

rs_1554269046

5 SubmittersRCV001389849 RCV001530322 RCV002290706 RCV003388844 RCV004815528 RCV002468637

NM_001142800.2(EYS):c.7842C>A (p.Cys2614Ter)

SNV
Germline

Chr6:63778062

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA3876772

rs_374494800

2 SubmittersRCV001381530 RCV003462977

NM_001142800.2(EYS):c.5511G>A (p.Trp1837Ter)

SNV
Germline

Chr6:64590356

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA3877011

rs_745574120

2 SubmittersRCV001384118 RCV003473950

NM_001142800.2(EYS):c.3573G>A (p.Trp1191Ter)

SNV
Germline

Chr6:64617529

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364785225

rs_1239806410

3 SubmittersRCV001382261 RCV003469673

NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter)

SNV
Germline

Chr6:64626127

Pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364785264

rs_2149856749

5 SubmittersRCV001382262 RCV001831383 RCV004815516

NM_001142800.2(EYS):c.3443+1G>A

SNV
Germline

Chr6:64813377

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364786663

rs_373441420

3 SubmittersRCV001381737 RCV003136056

NM_001142800.2(EYS):c.607C>T (p.Gln203Ter)

SNV
Germline

Chr6:65494804

Pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364789540

rs_1766182274

4 SubmittersRCV001390157 RCV003469768 RCV003888090

NM_001142800.2(EYS):c.511C>T (p.Gln171Ter)

SNV
Germline

Chr6:65494900

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA3878062

rs_747865323

2 SubmittersRCV001390531 RCV005038210

NM_152419.3(HGSNAT):c.376G>T (p.Glu126Ter)

SNV
Germline

Chr8:43158927

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA371125331

rs_1803180587

1 SubmittersRCV001386044

NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter)

SNV
Germline

Chr16:1526696

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
IFT140-related disorder
Renal cyst
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

CA394228230

rs_777399400

4 SubmittersRCV001381246 RCV003416302 RCV004789564 RCV005005913

NM_001297.5(CNGB1):c.1644-2A>G

SNV
Germline

Chr16:57920546

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8083342

rs_750222574

2 SubmittersRCV001387374 RCV005395006

NM_006915.3(RP2):c.58G>T (p.Glu20Ter)

SNV
Germline

ChrX:46837158

Pathogenic

Condition: not provided
Retinitis pigmentosa 2

Criteria Provided
Multiple Submitters
No Conflicts

CA413038259

rs_1924523272

2 SubmittersRCV001382693 RCV005438985

NM_006915.3(RP2):c.450G>A (p.Trp150Ter)

SNV
Germline

ChrX:46853823

Pathogenic

Condition: not provided
Retinitis pigmentosa 2

Criteria Provided
Multiple Submitters
No Conflicts

CA413039911

rs_1924906177

2 SubmittersRCV001380314 RCV003336392

NM_015662.3(IFT172):c.318C>T (p.Cys106=)

SNV
Germline

Chr2:27484245

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA1581042

rs_772983278

3 SubmittersRCV001407331 RCV004738287 RCV005014554

NM_001102564.3(IFT43):c.201C>T (p.Ser67=)

SNV
Germline

Chr14:76022380

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Short-rib thoracic dysplasia 18 with polydactyly
Retinitis pigmentosa 81
Cranioectodermal dysplasia 3

Criteria Provided
Conflicting Classifications

CA7280690

rs_140127543

4 SubmittersRCV001408271 RCV002276728 RCV002504682

NM_205861.3(DHDDS):c.181-16C>A

SNV
Germline

Chr1:26442715

Conflicting classifications of pathogenicity

Developmental delay and seizures with or without movement abnormalities
Retinitis pigmentosa 59

Criteria Provided
Conflicting Classifications

CA521753750

rs_1462542158

2 SubmittersRCV001420530 RCV002070261

NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu)

SNV
Germline

Chr2:27447581

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA1579548

rs_540171862

4 SubmittersRCV001433172 RCV004550157 RCV004774446 RCV002495599

NM_001164665.2(KIAA1549):c.4214T>C (p.Val1405Ala)

SNV
Germline

Chr7:138881403

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 86
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4505977

rs_555092681

3 SubmittersRCV001445303 RCV002501568 RCV002559321

NM_014714.4(IFT140):c.3876G>A (p.Val1292=)

SNV
Germline

Chr16:1520045

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA276675401

rs_986239975

2 SubmittersRCV001444997 RCV005014564

NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys)

SNV
Germline

ChrX:13751328

Conflicting classifications of pathogenicity

OFD1-related disorder
Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I
Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Retinitis pigmentosa 23

Criteria Provided
Conflicting Classifications

CA412339937

rs_1374240720

4 SubmittersRCV004540312 RCV003442882 RCV001430906 RCV005040281

NM_015662.3(IFT172):c.2103C>A (p.Ile701=)

SNV
Germline

Chr2:27462713

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA1580415

rs_138604630

3 SubmittersRCV001475483 RCV004550231 RCV005014573

NM_014714.4(IFT140):c.3596G>A (p.Cys1199Tyr)

SNV
Germline

Chr16:1520666

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
IFT140-related disorder
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7813103

rs_535064774

3 SubmittersRCV001450720 RCV004753329 RCV005014570

NM_000883.4(IMPDH1):c.218G>A (p.Gly73Asp)

SNV
Germline

Chr7:128409325

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 10
Leber congenital amaurosis 11

Criteria Provided
Conflicting Classifications

CA4471235

rs_139979391

3 SubmittersRCV001486627 RCV005395037

NM_014285.7(EXOSC2):c.260G>A (p.Arg87Gln)

SNV
Germline

Chr9:130697617

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Criteria Provided
Conflicting Classifications

CA5284789

rs_139286519

2 SubmittersRCV001494802 RCV002284969

NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)

SNV
Germline

ChrX:13744496

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351619

rs_756793358

3 SubmittersRCV001517035 RCV002501798 RCV004037941

NM_000283.4(PDE6B):c.1682A>G (p.His561Arg)

SNV
Germline

Chr4:662201

Conflicting classifications of pathogenicity

Retinitis pigmentosa 40
Condition: not provided

Criteria Provided
Conflicting Classifications

CA355916955

rs_1305333312

2 SubmittersRCV001526730 RCV002568133

NM_006915.3(RP2):c.524A>C (p.His175Pro)

SNV
Germline

ChrX:46853897

Likely pathogenic

Retinitis pigmentosa 2

Criteria Provided
Single Submitter

CA413040131

rs_2147081422

1 SubmittersRCV001526697

NM_006915.3(RP2):c.889G>C (p.Val297Leu)

SNV
Germline

ChrX:46877510

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Retinitis pigmentosa 2

Criteria Provided
Conflicting Classifications

CA10394261

rs_200720598

3 SubmittersRCV002129731 RCV003025428 RCV005397318

NM_000322.5(PRPH2):c.745G>A (p.Gly249Ser)

SNV
Germline

Chr6:42704448

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 7
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA364134999

rs_2152005248

3 SubmittersRCV001530329 RCV001810072 RCV004815556

NM_000322.5(PRPH2):c.738G>C (p.Trp246Cys)

SNV
Germline

Chr6:42704455

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder
Retinitis pigmentosa 7

Criteria Provided
Multiple Submitters
No Conflicts

CA364135031

rs_1800111659

3 SubmittersRCV001530327 RCV003591877 RCV005235586

NM_003611.3(OFD1):c.1411+1G>A

SNV
Germline

ChrX:13756768

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23

Criteria Provided
Single Submitter

CA412342954

rs_2147027077

1 SubmittersRCV001535950

NM_001142800.2(EYS):c.2023+1G>A

SNV
Germline

Chr6:65295862

Pathogenic/Likely pathogenic

Abnormality of the eye
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA139803839

rs_980430860

4 SubmittersRCV001814363 RCV002570636 RCV003470857

NM_206933.4(USH2A):c.12356T>C (p.Phe4119Ser)

SNV
Germline

Chr1:215675555

Pathogenic

Retinitis pigmentosa 39

No Assertion Criteria Provided

CA1393483

rs_776587395

1 SubmittersRCV001542726

NM_206933.4(USH2A):c.6486-1G>A

SNV
Germline

Chr1:215999059

Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Single Submitter

CA344861551

rs_2102482051

2 SubmittersRCV001542729 RCV002032541

NM_000350.3(ABCA4):c.5646G>T (p.Met1882Ile)

SNV
Germline

Chr1:94010868

Pathogenic

Retinitis pigmentosa 19
Condition: not provided

Criteria Provided
Single Submitter

CA341280828

rs_752160946

2 SubmittersRCV001542558 RCV002032535

NM_021831.6(AGBL5):c.323C>G (p.Pro108Arg)

SNV
Germline

Chr2:27053509

Likely pathogenic

Retinitis pigmentosa 75

No Assertion Criteria Provided

CA346170082

rs_1271339736

1 SubmittersRCV001542736

NM_000283.4(PDE6B):c.1160C>T (p.Pro387Leu)

SNV
Germline

Chr4:656926

Pathogenic

Condition: not provided
Retinitis pigmentosa 40

Criteria Provided
Single Submitter

CA355913169

rs_1392709495

2 SubmittersRCV002032533 RCV001542534

NM_003322.6(TULP1):c.1066C>A (p.Pro356Thr)

SNV
Germline

Chr6:35505787

Pathogenic

Retinitis pigmentosa 14

No Assertion Criteria Provided

CA363779710

rs_201836697

1 SubmittersRCV001542664

NM_014714.4(IFT140):c.2628C>A (p.Asn876Lys)

SNV
Germline

Chr16:1526027

Likely pathogenic

Retinitis pigmentosa 80

No Assertion Criteria Provided

CA394227746

rs_2040683256

1 SubmittersRCV001542690

NM_015629.4(PRPF31):c.1374+569C>G

SNV
Germline

Chr19:54129939

Likely pathogenic

Retinitis pigmentosa 11

No Assertion Criteria Provided

CA2499225599

rs_2146453060

1 SubmittersRCV001542615

NM_006915.3(RP2):c.768+1G>A

SNV
Germline

ChrX:46854142

Likely pathogenic

Retinitis pigmentosa 2
Condition: not provided

Criteria Provided
Single Submitter

CA413040675

rs_1924915809

2 SubmittersRCV001542516 RCV002568949

NM_206933.4(USH2A):c.8083A>T (p.Lys2695Ter)

SNV
Germline

Chr1:215888566

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344838936

rs_775921966

4 SubmittersRCV001553487 RCV003451808

NM_201253.3(CRB1):c.2340C>T (p.Pro780=)

SNV
Germline

Chr1:197427665

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA422809197

rs_2125484301

2 SubmittersRCV001563883 RCV001563882 RCV002072150

NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=)

SNV
Germline

Chr8:43192322

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Conflicting Classifications

CA460578161

rs_2130807297

2 SubmittersRCV001563770 RCV001563771 RCV002070393

NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)

SNV
Germline

Chr1:46193903

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833573

rs_754653320

2 SubmittersRCV001578929 RCV001578930 RCV001578931 RCV001578932 RCV002570817

NM_201253.3(CRB1):c.70+1G>T

SNV
Germline

Chr1:197268483

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344082566

rs_1237424465

1 SubmittersRCV001580687 RCV001580686

NM_001142800.2(EYS):c.2993-2A>G

SNV
Germline

Chr6:64822824

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364788132

rs_2150022860

2 SubmittersRCV001580700 RCV005419184

NM_000180.4(GUCY2D):c.1567-1G>C

SNV
Germline

Chr17:8007930

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Autosomal recessive optic atrophy
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397949515

rs_2151801050

2 SubmittersRCV001591784 RCV003389497 RCV003771780

NM_014714.4(IFT140):c.635-1G>C

SNV
Germline

Chr16:1589781

Pathogenic

Retinitis pigmentosa 80

Criteria Provided
Single Submitter

CA394219037

rs_2141882563

1 SubmittersRCV001591792

NM_015662.3(IFT172):c.986C>T (p.Thr329Met)

SNV
Germline

Chr2:27479528

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1580809

rs_568736482

6 SubmittersRCV001591793 RCV002571156 RCV004551934 RCV002506690 RCV003224574 RCV004692703

NM_000260.4(MYO7A):c.785T>G (p.Met262Arg)

SNV
Germline

Chr11:77157328

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA381932456

rs_1952576456

1 SubmittersRCV001591802

NM_000440.3(PDE6A):c.1117G>T (p.Glu373Ter)

SNV
Germline

Chr5:149899521

Pathogenic

Retinitis pigmentosa 43
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA361697145

rs_2113595869

2 SubmittersRCV001591813 RCV002569127

NM_000440.3(PDE6A):c.2317C>T (p.Gln773Ter)

SNV
Germline

Chr5:149866211

Pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

CA129052579

rs_770529851

1 SubmittersRCV001591815

NM_000440.3(PDE6A):c.2135+1G>T

SNV
Germline

Chr5:149883428

Pathogenic/Likely pathogenic

Retinitis pigmentosa 43
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA361692197

rs_561600163

2 SubmittersRCV001591816 RCV002571158

NM_000283.4(PDE6B):c.510C>G (p.Tyr170Ter)

SNV
Germline

Chr4:634718

Pathogenic

Retinitis pigmentosa 40

Criteria Provided
Single Submitter

CA355908177

rs_2109133174

1 SubmittersRCV001591818

NM_006017.3(PROM1):c.1956T>G (p.Tyr652Ter)

SNV
Germline

Chr4:15991249

Pathogenic/Likely pathogenic

Retinitis pigmentosa 41
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356430439

rs_2149113303

2 SubmittersRCV001591824 RCV002569129

NM_015629.4(PRPF31):c.-9+1G>A

SNV
Germline

Chr19:54115798

Likely pathogenic

Retinitis pigmentosa 11

Criteria Provided
Single Submitter

CA2499225585

rs_2146380786

1 SubmittersRCV001591825

NM_152443.3(RDH12):c.148G>A (p.Gly50Ser)

SNV
Germline

Chr14:67724552

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA390148105

rs_2140141345

3 SubmittersRCV001866151 RCV001591830

NM_138393.4(REEP6):c.349-1G>A

SNV
Germline

Chr19:1496284

Pathogenic

Retinitis pigmentosa 77

Criteria Provided
Single Submitter

CA403056864

rs_2085005383

1 SubmittersRCV001591835

NM_000539.3(RHO):c.643C>G (p.Pro215Ala)

SNV
Germline

Chr3:129532363

Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354469938

rs_2108750367

2 SubmittersRCV001591836 RCV002571159

NM_000539.3(RHO):c.937-2A>G

SNV
Germline

Chr3:129533606

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354471064

rs_1578281565

3 SubmittersRCV001591837 RCV003888307 RCV003565484

NM_014989.7(RIMS1):c.2758G>A (p.Val920Ile)

SNV
Germline

Chr6:72252820

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3886020

rs_376566413

3 SubmittersRCV001591838 RCV001866152 RCV005437291

NM_006269.2(RP1):c.532C>T (p.Gln178Ter)

SNV
Germline

Chr8:54621498

Pathogenic

Retinitis pigmentosa 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA370987165

rs_2129314462

2 SubmittersRCV001591840 RCV002571160

NM_178857.6(RP1L1):c.2464C>T (p.Arg822Ter)

SNV
Germline

Chr8:10611634

Pathogenic

Retinitis pigmentosa 88

Criteria Provided
Single Submitter

CA4624818

rs_755599243

1 SubmittersRCV001591847

NM_006915.3(RP2):c.434T>C (p.Phe145Ser)

SNV
Germline

ChrX:46853807

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 2

Criteria Provided
Conflicting Classifications

CA329691497

rs_1000426939

2 SubmittersRCV001866155 RCV001591849

NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)

SNV
Germline

Chr1:68446812

Likely pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA340749160

rs_2100831413

4 SubmittersRCV001591854 RCV003771781 RCV004690118 RCV005038270

NM_000329.3(RPE65):c.1229C>A (p.Ser410Ter)

SNV
Germline

Chr1:68431485

Pathogenic

Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340742913

rs_1235881190

1 SubmittersRCV001591858

NM_001034853.2(RPGR):c.779-2A>G

SNV
Germline

ChrX:38304792

Pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

CA412741793

rs_2147248124

1 SubmittersRCV001591862

NM_001034853.2(RPGR):c.1541C>G (p.Ser514Ter)

SNV
Germline

ChrX:38290990

Pathogenic

Retinitis pigmentosa 3
RPGR-related retinopathy

Reviewed By Expert Panel

CA412737625

rs_2147211363

2 SubmittersRCV001591864 RCV005623434

NM_001034853.2(RPGR):c.934+2T>C

SNV
Germline

ChrX:38304633

Pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

CA412741106

rs_2147247534

1 SubmittersRCV001591866

NM_001034853.2(RPGR):c.897T>A (p.Tyr299Ter)

SNV
Germline

ChrX:38304672

Pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

CA412741267

rs_2147247751

1 SubmittersRCV001591867

NM_001034853.2(RPGR):c.665T>G (p.Leu222Ter)

SNV
Germline

ChrX:38310728

Pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

CA412742926

rs_2147261937

1 SubmittersRCV001591868

NM_206933.4(USH2A):c.8681+2T>C

SNV
Germline

Chr1:215877756

Pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344828766

rs_2102450642

3 SubmittersRCV001591875 RCV001866157

NM_206933.4(USH2A):c.2035G>T (p.Gly679Ter)

SNV
Germline

Chr1:216251035

Pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344866590

rs_367693972

4 SubmittersRCV001591876 RCV002573306

NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro)

SNV
Germline

Chr1:216190235

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1395740

rs_757315203

3 SubmittersRCV001591879 RCV001591878 RCV003314694

NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys)

SNV
Germline

Chr1:216323546

Likely pathogenic

Retinitis pigmentosa 39
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1396505

rs_756570931

7 SubmittersRCV001591881 RCV003324566 RCV004815576 RCV001882712

NM_206933.4(USH2A):c.1551-9T>A

SNV
Germline

Chr1:216321985

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499214536

rs_995537756

2 SubmittersRCV001591884 RCV002571161

NM_206933.4(USH2A):c.13279G>A (p.Gly4427Arg)

SNV
Germline

Chr1:215674632

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
not specified

Criteria Provided
Conflicting Classifications

CA344845890

rs_1255592098

2 SubmittersRCV001591888 RCV003226481

NM_206933.4(USH2A):c.10711A>G (p.Thr3571Ala)

SNV
Germline

Chr1:215782071

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA1393954

rs_763789288

1 SubmittersRCV001591890

NM_201548.5(CERKL):c.497C>T (p.Pro166Leu)

SNV
Germline

Chr2:181573869

Conflicting classifications of pathogenicity

Retinitis pigmentosa 26
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA349744246

rs_1344137236

3 SubmittersRCV001591915 RCV001866159 RCV004815577

NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe)

SNV
Germline

Chr16:28486599

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA395345652

rs_1401497994

4 SubmittersRCV001591920 RCV001866161 RCV002471126 RCV004815578

NM_201253.3(CRB1):c.750T>A (p.Cys250Ter)

SNV
Germline

Chr1:197344378

Pathogenic

Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA1311699

rs_62635652

1 SubmittersRCV001591927

NM_201253.3(CRB1):c.2694T>G (p.Asn898Lys)

SNV
Germline

Chr1:197429466

Likely pathogenic

Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344040419

rs_2125488757

1 SubmittersRCV001591930

NM_001142800.2(EYS):c.4523T>A (p.Leu1508Ter)

SNV
Germline

Chr6:64591344

Pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364783137

rs_2149832043

1 SubmittersRCV001591935

NM_001142800.2(EYS):c.514C>T (p.Gln172Ter)

SNV
Germline

Chr6:65494897

Pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364789753

rs_2127271155

1 SubmittersRCV001591936

NM_001142800.2(EYS):c.2527G>A (p.Gly843Arg)

SNV
Germline

Chr6:64912598

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA364786322

rs_2150076826

3 SubmittersRCV001591937 RCV002569133 RCV003888308

NM_001142800.2(EYS):c.5283T>A (p.Tyr1761Ter)

SNV
Germline

Chr6:64590584

Pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364781435

rs_1158231145

3 SubmittersRCV001591939 RCV001866167

NM_001142800.2(EYS):c.3938T>A (p.Leu1313Ter)

SNV
Germline

Chr6:64591929

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364784395

rs_2149832585

1 SubmittersRCV001591940

NM_001201543.2(FAM161A):c.1095T>G (p.Tyr365Ter)

SNV
Germline

Chr2:61839909

Pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

CA346987451

rs_1253790930

1 SubmittersRCV001591941

NM_205861.3(DHDDS):c.109C>T (p.Arg37Cys)

SNV
Germline

Chr1:26438213

Pathogenic

Condition: not provided
Developmental delay and seizures with or without movement abnormalities
Retinitis pigmentosa 59
Retinitis pigmentosa 59
Developmental delay and seizures with or without movement abnormalities

Criteria Provided
Multiple Submitters
No Conflicts

CA339138670

rs_1553121072

7 SubmittersRCV001593456 RCV003333167 RCV001866177 RCV005023207

NM_001563.4(IMPG1):c.1824+1G>A

SNV
Germline

Chr6:75950561

Pathogenic/Likely pathogenic

Vitelliform macular dystrophy 4
Benign concentric annular macular dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA3898050

rs_770887047

4 SubmittersRCV001637980 RCV001637979 RCV002538519 RCV003324567

NM_000350.3(ABCA4):c.5578C>T (p.Arg1860Trp)

SNV
Germline

Chr1:94011268

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA26838213

rs_200849015

5 SubmittersRCV001682640 RCV004587194 RCV005023215

NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)

SNV
Germline

ChrX:38286781

Pathogenic

Condition: not provided
Retinitis pigmentosa 3
Primary ciliary dyskinesia
RPGR-related retinopathy

Reviewed By Expert Panel

CA327916189

rs_983693027

6 SubmittersRCV001682656 RCV002246455 RCV002538608 RCV005623439

NM_206933.4(USH2A):c.9959-2A>G

SNV
Germline

Chr1:215790284

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344844971

rs_1661946523

3 SubmittersRCV001701217 RCV003463058

NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter)

SNV
Germline

Chr6:64945866

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364788180

rs_992863438

5 SubmittersRCV001699706 RCV003388034 RCV003463059

NM_152419.3(HGSNAT):c.493+5G>A

SNV
Germline

Chr8:43159049

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Retinitis pigmentosa 73

Criteria Provided
Conflicting Classifications

CA4736517

rs_781408761

4 SubmittersRCV001699670 RCV002538631 RCV003323916

NM_001031710.3(KLHL7):c.433A>T (p.Asn145Tyr)

SNV
Unknown

Chr7:23125163

Likely pathogenic

Retinitis pigmentosa 42

Criteria Provided
Single Submitter

CA366975766

rs_1182983579

1 SubmittersRCV001706939

NM_000440.3(PDE6A):c.1684C>T (p.Arg562Trp)

SNV
Germline

Chr5:149895227

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 43
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3504595

rs_759589388

4 SubmittersRCV001724800 RCV002503172 RCV003888315 RCV002032669

NM_000283.4(PDE6B):c.1108-2A>G

SNV
Germline

Chr4:656872

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA355912974

rs_1316718953

1 SubmittersRCV001724804

NM_000539.3(RHO):c.568G>C (p.Asp190His)

SNV
Germline

Chr3:129532288

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA354499304

rs_104893779

3 SubmittersRCV001724812 RCV002539737 RCV004815598

NM_006269.2(RP1):c.615+1G>T

SNV
Germline

Chr8:54621582

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA370987444

rs_886210482

1 SubmittersRCV001724813

NM_001034853.2(RPGR):c.2452G>T (p.Glu818Ter)

SNV
Germline

ChrX:38286547

Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412730607

rs_2147197770

2 SubmittersRCV001724823 RCV004815599

NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter)

SNV
Germline

ChrX:38286508

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412730514

rs_865977487

3 SubmittersRCV001724825 RCV003128272

NM_020366.4(RPGRIP1):c.2020C>T (p.Pro674Ser)

SNV
Germline

Chr14:21324875

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA388867610

rs_1328030621

1 SubmittersRCV001724826

NM_014014.5(SNRNP200):c.1704A>C (p.Glu568Asp)

SNV
Germline

Chr2:96295626

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA347681115

rs_2104355428

1 SubmittersRCV001724828

NM_003322.6(TULP1):c.487C>T (p.Gln163Ter)

SNV
Germline

Chr6:35510873

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA363783033

rs_2150927932

1 SubmittersRCV001724833

NM_024649.5(BBS1):c.1473+2T>G

SNV
Germline

Chr11:66529954

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA381424184

rs_1856699646

1 SubmittersRCV001724834

NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser)

SNV
Germline

Chr1:216321921

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344907733

rs_111033273

4 SubmittersRCV001724840 RCV002543875 RCV004526858 RCV005005994

NM_206933.4(USH2A):c.11684G>A (p.Gly3895Glu)

SNV
Germline

Chr1:215741402

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA344833308

rs_1472714005

1 SubmittersRCV001724841

NM_206933.4(USH2A):c.2810-1G>A

SNV
Germline

Chr1:216232137

Likely pathogenic

Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396145

rs_778336512

2 SubmittersRCV001724842 RCV005014619

NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter)

SNV
Germline

Chr1:215786860

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344840662

rs_1183957540

4 SubmittersRCV001724844 RCV002032670 RCV003451858

NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter)

SNV
Germline

Chr1:215782146

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344836839

rs_1553261372

3 SubmittersRCV001724846 RCV001882786 RCV003451860

NM_033028.5(BBS4):c.864+1G>C

SNV
Germline

Chr15:72731458

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Bardet-Biedl syndrome 4

Criteria Provided
Conflicting Classifications

CA393078710

rs_2151047618

2 SubmittersRCV001724848 RCV002227533

NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter)

SNV
Germline

Chr10:84205892

Likely pathogenic

Retinitis pigmentosa
Cone-rod dystrophy 15
Macular dystrophy, retinal, 5

Criteria Provided
Single Submitter

CA377373883

rs_1842216995

2 SubmittersRCV001724851 RCV002227535 RCV003222341

NM_025114.4(CEP290):c.4705-2A>C

SNV
Germline

Chr12:88083956

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA385994211

rs_2137170380

2 SubmittersRCV001724852 RCV002227536 RCV001859437

NM_001379270.1(CNGA1):c.234C>A (p.Tyr78Ter)

SNV
Germline

Chr4:47949886

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 49
Condition: not provided
CNGA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA356834547

rs_1436425494

5 SubmittersRCV001724853 RCV005235589 RCV003558851 RCV004757474

NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp)

SNV
Germline

Chr1:197421672

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1311994

rs_768905244

2 SubmittersRCV001724857 RCV002539742

NM_205861.3(DHDDS):c.616A>G (p.Thr206Ala)

SNV
Germline

Chr1:26457864

Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 59

Criteria Provided
Multiple Submitters
No Conflicts

CA339144762

rs_2124489724

2 SubmittersRCV001724859 RCV002227538

NM_001142800.2(EYS):c.1193C>G (p.Ser398Ter)

SNV
Germline

Chr6:65384492

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364662210

rs_866804139

2 SubmittersRCV001724860 RCV002539743

NM_001142800.2(EYS):c.174G>A (p.Trp58Ter)

SNV
Germline

Chr6:65495237

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364790483

rs_1177052380

4 SubmittersRCV001724863 RCV001882787 RCV003470880

NM_001142800.2(EYS):c.3164+1G>A

SNV
Germline

Chr6:64822650

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA140369225

rs_1029564423

3 SubmittersRCV001724864 RCV002538667 RCV002506743

NM_001378615.1(CC2D2A):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr4:15511418

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA2863463

rs_761213221

4 SubmittersRCV001723363 RCV002539748 RCV005023216

NM_201253.3(CRB1):c.3881G>A (p.Cys1294Tyr)

SNV
Germline

Chr1:197442168

Pathogenic/Likely pathogenic

Cone-rod dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1312440

rs_754575460

2 SubmittersRCV001725800 RCV002539755

NM_006915.3(RP2):c.969+3A>C

SNV
Unknown

ChrX:46877593

Likely pathogenic

Retinitis pigmentosa 2

Criteria Provided
Single Submitter

CA2499226737

rs_2147089334

1 SubmittersRCV001730122

NM_205861.3(DHDDS):c.802C>T (p.Gln268Ter)

SNV
Germline

Chr1:26468931

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 59
Developmental delay and seizures with or without movement abnormalities

Criteria Provided
Conflicting Classifications

CA339145580

rs_1180408059

2 SubmittersRCV001733406 RCV005023217

NM_001031710.3(KLHL7):c.1229G>A (p.Trp410Ter)

SNV
Germline

Chr7:23167887

Pathogenic

Retinitis pigmentosa 42

Criteria Provided
Single Submitter

CA366981767

rs_2128469727

1 SubmittersRCV004798917

NM_201253.3(CRB1):c.997G>C (p.Gly333Arg)

SNV
Germline

Chr1:197356839

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1311780

rs_778232235

3 SubmittersRCV001733784 RCV001861045 RCV003451871

NM_201548.5(CERKL):c.112C>T (p.Gln38Ter)

SNV
Germline

Chr2:181656895

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA2010951

rs_776566319

3 SubmittersRCV001753971 RCV003474018

NM_206933.4(USH2A):c.4280T>C (p.Leu1427Pro)

SNV
Germline

Chr1:216190339

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1395755

rs_373130157

3 SubmittersRCV001757935 RCV003451875 RCV003451876

NM_201253.3(CRB1):c.3091G>A (p.Asp1031Asn)

SNV
Germline

Chr1:197434954

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA344045388

rs_2125499421

2 SubmittersRCV001752298 RCV002539930

NM_015662.3(IFT172):c.3769C>T (p.Leu1257=)

SNV
Germline

Chr2:27453682

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579867

rs_373382907

3 SubmittersRCV001773937 RCV001882854 RCV004552000

NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)

SNV
Germline

Chr2:181604002

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA2010865

rs_569826109

5 SubmittersRCV001774186 RCV002282574 RCV002488562

NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)

SNV
Germline

Chr1:94001009

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA341277442

rs_2100993895

3 SubmittersRCV001755001 RCV002489788

NM_006269.2(RP1):c.4636C>T (p.Gln1546Ter)

SNV
Germline

Chr8:54628518

Likely pathogenic

Retinitis pigmentosa 1

Criteria Provided
Single Submitter

CA370982847

rs_1806147660

1 SubmittersRCV001774817

NM_001278293.3(ARL6):c.186-11T>G

SNV
Germline

Chr3:97780604

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 1

Criteria Provided
Conflicting Classifications

CA2505891

rs_370656150

3 SubmittersRCV001755610 RCV002074039 RCV005023250

NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)

SNV
Germline

Chr4:15515919

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93
Joubert syndrome 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863522

rs_375247004

4 SubmittersRCV001753222 RCV001868722 RCV002478000 RCV004968278

NM_201253.3(CRB1):c.3221T>C (p.Leu1074Ser)

SNV
Germline

Chr1:197435084

Pathogenic

Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA1312295

rs_751303205

2 SubmittersRCV001771820 RCV001885124

NM_000329.3(RPE65):c.1451-1G>A

SNV
Germline

Chr1:68429928

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340741548

rs_1317871521

5 SubmittersRCV001775532 RCV003120686 RCV003470896 RCV004527431

NM_025130.4(HKDC1):c.173C>T (p.Thr58Met)

SNV
Germline

Chr10:69227316

Likely pathogenic

Retinitis pigmentosa 92

Criteria Provided
Single Submitter

CA5531084

rs_142379141

2 SubmittersRCV001779345

NM_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter)

SNV
Germline

Chr4:15574318

Pathogenic/Likely pathogenic

Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA356424248

rs_1271825377

3 SubmittersRCV002471153 RCV003772133 RCV005038317

NM_001297.5(CNGB1):c.2775G>A (p.Trp925Ter)

SNV
Germline

Chr16:57903841

Pathogenic

Retinitis pigmentosa 45
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA396057238

rs_2149358455

2 SubmittersRCV001780518 RCV003772134

NM_001142800.2(EYS):c.3244-1G>C

SNV
Germline

Chr6:64813578

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364787113

rs_2150016293

2 SubmittersRCV005095131 RCV001781066

NM_006269.2(RP1):c.5248G>T (p.Glu1750Ter)

SNV
Germline

Chr8:54629130

Likely pathogenic

Retinitis pigmentosa 1

Criteria Provided
Single Submitter

CA370985276

rs_1444271998

1 SubmittersRCV001783687

NM_020843.4(SCAPER):c.2955-1G>T

SNV
Germline

Chr15:76471336

Likely pathogenic

Intellectual developmental disorder and retinitis pigmentosa
IDDRP
SCAPER-related disorder

Criteria Provided
Single Submitter

CA393633286

rs_2050148457

2 SubmittersRCV001783713 RCV004731179

NM_001102564.3(IFT43):c.328C>T (p.Gln110Ter)

SNV
Germline

Chr14:76082327

Pathogenic/Likely pathogenic

Condition: not provided
Short-rib thoracic dysplasia 18 with polydactyly
Retinitis pigmentosa 81
Cranioectodermal dysplasia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA7280842

rs_201794999

4 SubmittersRCV001795715 RCV005005286

NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter)

SNV
Germline

Chr16:1523884

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy
IFT140-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA394225657

rs_1432688490

6 SubmittersRCV002541298 RCV001795767 RCV002503283 RCV003888321 RCV004753392

NM_001354768.3(NRL):c.619C>T (p.Arg207Cys)

SNV
Unknown

Chr14:24081331

Likely pathogenic

Retinitis pigmentosa 27

Criteria Provided
Single Submitter

CA389276868

rs_2036279881

1 SubmittersRCV001799579

NM_006343.3(MERTK):c.2190-2A>G

SNV
Unknown

Chr2:112021420

Pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348238576

rs_2104423657

1 SubmittersRCV001801331

NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg)

SNV
Germline

Chr3:150972519

Pathogenic/Likely pathogenic

Usher syndrome
Condition: not provided
Retinitis pigmentosa 61
Usher syndrome type 3A
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA355011864

rs_1380661508

4 SubmittersRCV001806792 RCV002541387 RCV003470922 RCV005038333

NM_201253.3(CRB1):c.2128+1G>A

SNV
Germline

Chr1:197421957

Likely pathogenic

Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344034337

rs_2125472205

1 SubmittersRCV001807895

NM_001142800.2(EYS):c.5626C>T (p.Gln1876Ter)

SNV
Germline

Chr6:64590241

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364780702

rs_2149830904

1 SubmittersRCV001807908

NM_001142800.2(EYS):c.6191+1G>A

SNV
Germline

Chr6:64306969

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA140305285

rs_1048032321

3 SubmittersRCV001808029 RCV001869579

NM_006017.3(PROM1):c.2209G>T (p.Glu737Ter)

SNV
Germline

Chr4:15985959

Likely pathogenic

Retinitis pigmentosa 41

Criteria Provided
Single Submitter

CA356428187

rs_2149080351

1 SubmittersRCV001808087

NM_000350.3(ABCA4):c.3814-2A>T

SNV
Germline

Chr1:94036790

Pathogenic

Retinitis pigmentosa 19
Stargardt disease

Criteria Provided
Single Submitter

CA341288468

rs_1660350150

2 SubmittersRCV001808133 RCV002468642

NM_006017.3(PROM1):c.276+2T>C

SNV
Germline

Chr4:16038944

Likely pathogenic

Retinitis pigmentosa 41

Criteria Provided
Single Submitter

CA356429948

rs_2149407830

1 SubmittersRCV001808139

NM_206933.4(USH2A):c.13018G>C (p.Gly4340Arg)

SNV
Germline

Chr1:215674893

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344847809

rs_2102665930

1 SubmittersRCV001808150

NM_001142800.2(EYS):c.6313C>T (p.Gln2105Ter)

SNV
Germline

Chr6:64230703

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364391380

rs_1188834464

2 SubmittersRCV001808306 RCV002542435

NM_020843.4(SCAPER):c.334C>T (p.Arg112Ter)

SNV
Germline

Chr15:76841793

Likely pathogenic

Intellectual developmental disorder and retinitis pigmentosa
IDDRP

Criteria Provided
Single Submitter

CA7675239

rs_757834403

1 SubmittersRCV001813898

NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln)

SNV
Germline

ChrX:13767253

Conflicting classifications of pathogenicity

not specified
Orofaciodigital syndrome I
Joubert syndrome
Joubert syndrome 10
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10352070

rs_371848382

4 SubmittersRCV001817300 RCV002074279 RCV005040396 RCV004040963

NM_001142800.2(EYS):c.4532C>G (p.Ser1511Ter)

SNV
Germline

Chr6:64591335

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364783116

rs_2149832027

1 SubmittersRCV001823477

NM_001034853.2(RPGR):c.1415-9A>G

SNV
Germline

ChrX:38291493

Likely pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

CA2580100829

rs_2067278631

1 SubmittersRCV002274221

NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)

SNV
Germline

Chr1:46192148

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinal dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Conflicting Classifications

CA833352

rs_745343484

6 SubmittersRCV001837127 RCV003464155 RCV003888327 RCV002034696 RCV005023271 RCV002542791

NM_000350.3(ABCA4):c.4128+1G>A

SNV
Germline

Chr1:94031777

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA341286670

rs_2101036750

3 SubmittersRCV001840952 RCV002292669 RCV005419221

NM_001077620.3(PRCD):c.74+1G>A

SNV
Germline

Chr17:76540216

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA8787818

rs_779066277

4 SubmittersRCV001844531 RCV002225940 RCV003888332

NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)

SNV
Germline

Chr1:215838103

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome

Criteria Provided
Conflicting Classifications

CA1394364

rs_200382994

8 SubmittersRCV002543341 RCV003464157 RCV005014688 RCV003888334 RCV005409026

NM_201253.3(CRB1):c.2159A>T (p.Asp720Val)

SNV
Germline

Chr1:197427484

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1312062

rs_766989894

1 SubmittersRCV002028701

NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr3:3147476

Pathogenic/Likely pathogenic

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Retinitis pigmentosa and erythrocytic microcytosis
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2228809

rs_370699359

3 SubmittersRCV001944847 RCV002478158 RCV004793549

NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn)

SNV
Germline

Chr2:27472360

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580651

rs_747544155

3 SubmittersRCV001944909 RCV002482540 RCV004552066

NM_201253.3(CRB1):c.3787A>T (p.Lys1263Ter)

SNV
Germline

Chr1:197438584

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344050814

rs_2125506218

1 SubmittersRCV001884818

NM_000329.3(RPE65):c.354-1G>T

SNV
Germline

Chr1:68444673

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340748036

rs_2100827985

1 SubmittersRCV002004304

NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly)

SNV
Germline

Chr16:1510954

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7812766

rs_771632573

2 SubmittersRCV001988762 RCV002492277

NM_201548.5(CERKL):c.182T>A (p.Val61Glu)

SNV
Germline

Chr2:181656825

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349744376

rs_1472885040

2 SubmittersRCV001989396 RCV003475274

NM_000326.5(RLBP1):c.13-1G>C

SNV
Germline

Chr15:89218694

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7722409

rs_763694069

2 SubmittersRCV005406280 RCV002034011

NM_014714.4(IFT140):c.3704C>T (p.Thr1235Met)

SNV
Germline

Chr16:1520300

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Inborn genetic diseases
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7813057

rs_767997025

3 SubmittersRCV001919017 RCV004616865 RCV005006215

NM_001297.5(CNGB1):c.2977-1G>A

SNV
Germline

Chr16:57897915

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8082725

rs_865818297

2 SubmittersRCV001987092 RCV005254005

NM_001297.5(CNGB1):c.2369+1G>A

SNV
Germline

Chr16:57912929

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8083048

rs_756239195

2 SubmittersRCV001989266 RCV005008377

NM_001378615.1(CC2D2A):c.2181+17T>G

SNV
Germline

Chr4:15541031

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA92534172

rs_1016233369

2 SubmittersRCV001877057 RCV005023330

NM_000329.3(RPE65):c.12-1G>C

SNV
Germline

Chr1:68448707

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA340750357

rs_1348031618

2 SubmittersRCV001963808 RCV004699598

NM_002900.3(RBP3):c.3341G>A (p.Arg1114Gln)

SNV
Germline

Chr10:47355471

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 66
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5487077

rs_201185969

4 SubmittersRCV001880369 RCV002468646 RCV004815666

NM_206933.4(USH2A):c.7121-1G>T

SNV
Germline

Chr1:215934796

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344858111

rs_2102499826

2 SubmittersRCV001990744 RCV003464335

NM_201253.3(CRB1):c.716G>T (p.Cys239Phe)

SNV
Germline

Chr1:197344344

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344083243

rs_771079655

1 SubmittersRCV001881511

NM_201253.3(CRB1):c.107C>A (p.Ser36Ter)

SNV
Germline

Chr1:197328458

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344085033

rs_2125303600

1 SubmittersRCV001928503

NM_206933.4(USH2A):c.907C>A (p.Arg303Ser)

SNV
Germline

Chr1:216325541

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396647

rs_748465849

5 SubmittersRCV001939275 RCV003324571 RCV003453815 RCV003471091

NM_201253.3(CRB1):c.1430G>T (p.Gly477Val)

SNV
Germline

Chr1:197421258

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344030877

rs_1277758473

1 SubmittersRCV001969116

NM_000329.3(RPE65):c.998+1G>A

SNV
Germline

Chr1:68438941

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340744551

rs_1645879495

3 SubmittersRCV001993735 RCV003471214 RCV003773037

NM_017739.4(POMGNT1):c.880-1G>C

SNV
Germline

Chr1:46193926

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinal dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340182154

rs_1317832573

5 SubmittersRCV002036661 RCV002550498 RCV003464404 RCV004816946 RCV005025683

NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu)

SNV
Germline

Chr16:1520664

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7813101

rs_566568065

3 SubmittersRCV002036692 RCV002486795 RCV005585098

NM_014014.5(SNRNP200):c.3269G>A (p.Arg1090Gln)

SNV
Germline

Chr2:96287959

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 33
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1778496

rs_397514574

3 SubmittersRCV001865088 RCV003228805 RCV003888350

NM_201253.3(CRB1):c.3102G>A (p.Trp1034Ter)

SNV
Germline

Chr1:197434965

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344045516

rs_2125499463

1 SubmittersRCV001904204

NM_206933.4(USH2A):c.847A>G (p.Arg283Gly)

SNV
Germline

Chr1:216327592

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA344912802

rs_2102658767

4 SubmittersRCV001905747 RCV005006157 RCV004690157

NM_201253.3(CRB1):c.2082C>A (p.Tyr694Ter)

SNV
Germline

Chr1:197421910

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344034059

rs_2125472041

1 SubmittersRCV001978979

NM_000329.3(RPE65):c.432C>G (p.Tyr144Ter)

SNV
Germline

Chr1:68444594

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340747768

rs_56021047

2 SubmittersRCV001999882 RCV004571710

NM_000350.3(ABCA4):c.2972G>T (p.Gly991Val)

SNV
Germline

Chr1:94044691

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA341275178

rs_1297410481

3 SubmittersRCV001999928 RCV004526889 RCV005025516

NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter)

SNV
Germline

Chr16:1586138

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
IFT140-related disorder
Renal cyst
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

CA394215687

rs_1206753537

4 SubmittersRCV001907936 RCV003416523 RCV004785356 RCV005014743

NM_201253.3(CRB1):c.4137C>G (p.Tyr1379Ter)

SNV
Germline

Chr1:197477795

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344035752

rs_1206810310

1 SubmittersRCV001941693

NM_206933.4(USH2A):c.7120+1G>A

SNV
Germline

Chr1:215965316

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344851732

rs_1667311758

4 SubmittersRCV002000554 RCV005008349 RCV005614747 RCV003464353

NM_014714.4(IFT140):c.2717G>A (p.Arg906His)

SNV
Germline

Chr16:1525938

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7813520

rs_754338217

3 SubmittersRCV001871301 RCV002506957 RCV003289173

NM_201253.3(CRB1):c.358C>T (p.Gln120Ter)

SNV
Germline

Chr1:197328709

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344085592

rs_1658671768

3 SubmittersRCV001936758 RCV003475192 RCV005006278

NM_201253.3(CRB1):c.2549G>T (p.Gly850Val)

SNV
Germline

Chr1:197427874

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1312140

rs_757137398

3 SubmittersRCV001908346 RCV004571537 RCV005006160

NM_001142800.2(EYS):c.2638G>T (p.Glu880Ter)

SNV
Germline

Chr6:64912487

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364786065

rs_2150076741

2 SubmittersRCV001947728 RCV004571610

NM_206933.4(USH2A):c.269A>G (p.Tyr90Cys)

SNV
Germline

Chr1:216422068

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396823

rs_755435330

2 SubmittersRCV001953352 RCV003475194

NM_014714.4(IFT140):c.2578-2A>G

SNV
Germline

Chr16:1526079

Likely pathogenic

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

CA394227921

rs_2040685752

2 SubmittersRCV001973205 RCV002492177

NM_201253.3(CRB1):c.2497G>T (p.Gly833Cys)

SNV
Germline

Chr1:197427822

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344037794

rs_1664671663

1 SubmittersRCV001995245

NM_014714.4(IFT140):c.919C>T (p.Arg307Ter)

SNV
Germline

Chr16:1587288

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394216992

rs_1307461796

2 SubmittersRCV001951871 RCV005016841

NM_201548.5(CERKL):c.1392C>G (p.Tyr464Ter)

SNV
Germline

Chr2:181539238

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349733441

rs_1241374922

2 SubmittersRCV001960324 RCV003471093

NM_201253.3(CRB1):c.2549G>A (p.Gly850Asp)

SNV
Germline

Chr1:197427874

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA35901098

rs_757137398

1 SubmittersRCV001973133

NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu)

SNV
Germline

Chr1:68429788

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA340740550

rs_2100804954

3 SubmittersRCV001963988 RCV005253993 RCV003471217

NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser)

SNV
Germline

Chr1:197421176

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344030486

rs_1664290387

2 SubmittersRCV001995121 RCV002250793

NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp)

SNV
Germline

Chr2:27463105

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1580460

rs_201921339

4 SubmittersRCV001932014 RCV002490004 RCV002463050 RCV003888352

NM_015662.3(IFT172):c.2866C>T (p.Gln956Ter)

SNV
Germline

Chr2:27458790

Pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder

Criteria Provided
Single Submitter

CA1580166

rs_144450109

2 SubmittersRCV001900064 RCV004552063

NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter)

SNV
Germline

Chr16:1564026

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA394204819

rs_2141540660

3 SubmittersRCV001964909 RCV002250785 RCV002252731

NM_206933.4(USH2A):c.9504C>A (p.Cys3168Ter)

SNV
Germline

Chr1:215817063

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344824570

rs_2102796365

2 SubmittersRCV001970146 RCV003475228

NM_206933.4(USH2A):c.7569G>A (p.Trp2523Ter)

SNV
Germline

Chr1:215900100

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344847047

rs_2102469493

2 SubmittersRCV001970166 RCV005016949

NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter)

SNV
Germline

Chr1:216196587

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344866217

rs_1308702971

5 SubmittersRCV001950926 RCV003464309 RCV002469440 RCV003453869

NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr)

SNV
Germline

Chr1:94042785

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 19
Stargardt disease
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA957987

rs_138641544

5 SubmittersRCV001970179 RCV004816824 RCV005623102 RCV004587272 RCV005025523

NM_001278293.3(ARL6):c.479+1G>A

SNV
Germline

Chr3:97788120

Likely pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

CA353588866

rs_1324418374

1 SubmittersRCV001998769

NM_014714.4(IFT140):c.2200-20A>G

SNV
Germline

Chr16:1558154

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7813964

rs_760501465

2 SubmittersRCV002023188 RCV002492367

NM_201253.3(CRB1):c.2053G>A (p.Gly685Arg)

SNV
Germline

Chr1:197421881

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1312028

rs_779069205

1 SubmittersRCV002031648

NM_000329.3(RPE65):c.644-2A>C

SNV
Germline

Chr1:68439644

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340746085

rs_61752891

1 SubmittersRCV001935730

NM_206933.4(USH2A):c.8002G>T (p.Glu2668Ter)

SNV
Germline

Chr1:215888647

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344839272

rs_2102460193

3 SubmittersRCV004796671 RCV001907542 RCV004571444

NM_201253.3(CRB1):c.4209G>T (p.Glu1403Asp)

SNV
Germline

Chr1:197477867

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344036102

rs_1490587812

1 SubmittersRCV001975783

NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)

SNV
Germline

Chr6:63721012

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA140236808

rs_888739369

5 SubmittersRCV002042503 RCV002246649 RCV002509739

NM_001278293.3(ARL6):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:97768108

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

CA353581718

rs_2107977736

1 SubmittersRCV001987743

NM_152419.3(HGSNAT):c.974G>A (p.Gly325Glu)

SNV
Germline

Chr8:43178196

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
not specified

Criteria Provided
Conflicting Classifications

CA4736692

rs_753315223

2 SubmittersRCV001966989 RCV004770327

NM_017739.4(POMGNT1):c.1785+1G>A

SNV
Germline

Chr1:46189853

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340171168

rs_2148166435

2 SubmittersRCV002010685 RCV005025619

NM_001142800.2(EYS):c.749-2A>G

SNV
Germline

Chr6:65490709

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA364789213

rs_1766011028

3 SubmittersRCV002040255 RCV003888991 RCV003464375

NM_201253.3(CRB1):c.3361C>T (p.Gln1121Ter)

SNV
Germline

Chr1:197435224

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344047324

rs_2125500230

1 SubmittersRCV001954471

NM_201253.3(CRB1):c.2248G>A (p.Gly750Ser)

SNV
Germline

Chr1:197427573

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344036801

rs_2125483920

1 SubmittersRCV001977555

NM_006445.4(PRPF8):c.654-5C>T

SNV
Germline

Chr17:1681695

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 13

Criteria Provided
Conflicting Classifications

CA8272570

rs_143954665

2 SubmittersRCV001952360 RCV002507606

NM_000329.3(RPE65):c.725+2T>A

SNV
Germline

Chr1:68439559

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340745901

rs_1355979496

2 SubmittersRCV001953857 RCV003471183

NM_000329.3(RPE65):c.493C>T (p.Gln165Ter)

SNV
Germline

Chr1:68444533

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340747340

rs_1202384396

2 SubmittersRCV001953858 RCV003471184

NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr)

SNV
Germline

Chr1:68431116

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340741971

rs_1395763356

1 SubmittersRCV002030369

NM_206933.4(USH2A):c.14286C>A (p.Asn4762Lys)

SNV
Germline

Chr1:215650649

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1393072

rs_750368946

2 SubmittersRCV002008565 RCV003475270

NM_001142800.2(EYS):c.289C>T (p.Gln97Ter)

SNV
Germline

Chr6:65495122

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364790238

rs_1766202141

2 SubmittersRCV001912151 RCV003470984

NM_014714.4(IFT140):c.1331T>C (p.Met444Thr)

SNV
Germline

Chr16:1584245

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7814364

rs_148663745

3 SubmittersRCV001964383 RCV002484861 RCV004631880

NM_201253.3(CRB1):c.515G>T (p.Cys172Phe)

SNV
Germline

Chr1:197328866

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344085938

rs_756931963

2 SubmittersRCV001964449 RCV005225552

NM_206933.4(USH2A):c.11515C>T (p.Gln3839Ter)

SNV
Germline

Chr1:215743210

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344834674

rs_2102727387

2 SubmittersRCV001910773 RCV003471004

NM_201253.3(CRB1):c.2249G>T (p.Gly750Val)

SNV
Germline

Chr1:197427574

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344036811

rs_2125483925

3 SubmittersRCV001940368 RCV003452164 RCV003452165 RCV003238878

NM_000329.3(RPE65):c.1580A>G (p.His527Arg)

SNV
Germline

Chr1:68429798

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340740585

rs_1194458561

3 SubmittersRCV001982688 RCV004571683 RCV004527438

NM_201548.5(CERKL):c.896-2A>T

SNV
Germline

Chr2:181548859

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349737550

rs_2105804184

2 SubmittersRCV002017612 RCV005025626

NM_000283.4(PDE6B):c.1243G>A (p.Glu415Lys)

SNV
Germline

Chr4:657009

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA2794399

rs_750599200

2 SubmittersRCV001916664 RCV003389503

NM_201253.3(CRB1):c.1057G>T (p.Glu353Ter)

SNV
Germline

Chr1:197356899

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344084446

rs_2125354456

1 SubmittersRCV001943707

NM_201253.3(CRB1):c.1600A>G (p.Lys534Glu)

SNV
Germline

Chr1:197421428

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344031642

rs_2125470125

1 SubmittersRCV002022710

NM_001142800.2(EYS):c.3490G>T (p.Glu1164Ter)

SNV
Germline

Chr6:64626199

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364785431

rs_2149856835

4 SubmittersRCV001912516 RCV003471006

NM_014053.4(FLVCR1):c.1198C>T (p.Gln400Ter)

SNV
Germline

Chr1:212887892

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA344792613

rs_1315527384

2 SubmittersRCV001943648 RCV003324569

NM_014714.4(IFT140):c.328C>A (p.Arg110Ser)

SNV
Germline

Chr16:1602411

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7814748

rs_140159548

3 SubmittersRCV001912199 RCV002482609 RCV003339787

NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter)

SNV
Germline

Chr16:1580770

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Condition: not provided
Retinitis pigmentosa 80
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394211800

rs_1257804746

4 SubmittersRCV001975158 RCV003312029 RCV005253984 RCV005008310

NM_001142800.2(EYS):c.4451G>A (p.Trp1484Ter)

SNV
Germline

Chr6:64591416

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364783297

rs_1239854361

3 SubmittersRCV001975189 RCV003324574 RCV003471194

NM_015662.3(IFT172):c.402+2T>G

SNV
Germline

Chr2:27483870

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1580998

rs_774548930

3 SubmittersRCV002006167 RCV002497968 RCV004738483

NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser)

SNV
Germline

Chr16:1583370

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814322

rs_778311141

2 SubmittersRCV002048657 RCV002486725

NM_152419.3(HGSNAT):c.773A>G (p.Asn258Ser)

SNV
Germline

Chr8:43172339

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA4736626

rs_767574122

1 SubmittersRCV002015556

NM_000440.3(PDE6A):c.1286G>A (p.Trp429Ter)

SNV
Germline

Chr5:149898484

Pathogenic

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA361696315

rs_1390479623

2 SubmittersRCV001910736 RCV002246599

NM_206933.4(USH2A):c.6957+1G>C

SNV
Germline

Chr1:215970624

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344853824

rs_2102458321

4 SubmittersRCV002005489 RCV002507733 RCV003446976 RCV003446977

NM_201253.3(CRB1):c.3863G>A (p.Gly1288Asp)

SNV
Germline

Chr1:197438660

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA1312417

rs_533997742

1 SubmittersRCV001971616

NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter)

SNV
Germline

Chr2:27447832

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1579588

rs_150246251

3 SubmittersRCV001900954 RCV002490161 RCV004738423

NM_001142800.2(EYS):c.6324C>A (p.Cys2108Ter)

SNV
Germline

Chr6:64230692

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364391355

rs_1469992138

2 SubmittersRCV001997567 RCV005614733

NM_000350.3(ABCA4):c.4327C>T (p.Arg1443Cys)

SNV
Germline

Chr1:94030453

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA957651

rs_533422156

3 SubmittersRCV002014925 RCV005025567 RCV004816862

NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter)

SNV
Germline

Chr1:215817127

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344825133

rs_1662880811

4 SubmittersRCV001929149 RCV002236189 RCV003452179 RCV005016864

NM_006445.4(PRPF8):c.6978C>G (p.Tyr2326Ter)

SNV
Germline

Chr17:1650832

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 13

Criteria Provided
Multiple Submitters
No Conflicts

CA397561775

rs_773363890

2 SubmittersRCV001946129 RCV002471192

NM_201253.3(CRB1):c.2640T>G (p.Asn880Lys)

SNV
Germline

Chr1:197427965

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified

Criteria Provided
Conflicting Classifications

CA344038603

rs_2125485441

2 SubmittersRCV002009208 RCV005433111

NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)

SNV
Germline

Chr1:216246615

Pathogenic/Likely pathogenic

Usher syndrome type 2
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344864055

rs_1438734382

5 SubmittersRCV002307769 RCV002040066 RCV003451986 RCV003451985

NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)

SNV
Germline

Chr4:15574243

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 9
Joubert syndrome 1
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA92519140

rs_1022325907

5 SubmittersRCV001919810 RCV002463064 RCV002554223 RCV003444065 RCV004796678

NM_001142800.2(EYS):c.2425G>T (p.Glu809Ter)

SNV
Germline

Chr6:64912700

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364786553

rs_951544417

2 SubmittersRCV002035326 RCV005253958

NM_014336.5(AIPL1):c.276+1G>A

SNV
Germline

Chr17:6433918

Pathogenic/Likely pathogenic

Leber congenital amaurosis 4
Leber congenital amaurosis 4
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA8328578

rs_150097891

2 SubmittersRCV002007326 RCV002497862

NM_001142800.2(EYS):c.7822C>T (p.Gln2608Ter)

SNV
Germline

Chr6:63778082

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364390569

rs_1770111064

3 SubmittersRCV001899522 RCV003888364 RCV004571461

NM_014714.4(IFT140):c.2443C>T (p.Gln815Ter)

SNV
Germline

Chr16:1526753

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394228426

rs_2141185231

2 SubmittersRCV001922623 RCV005016777

NM_001297.5(CNGB1):c.16C>T (p.Gln6Ter)

SNV
Germline

Chr16:57967271

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA396064336

rs_1427995653

2 SubmittersRCV001957484 RCV005006247

NM_152419.3(HGSNAT):c.1245C>A (p.Cys415Ter)

SNV
Germline

Chr8:43191590

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371119395

rs_375616017

1 SubmittersRCV002037909

NM_001142800.2(EYS):c.684C>A (p.Cys228Ter)

SNV
Germline

Chr6:65494727

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364789368

rs_1312069480

2 SubmittersRCV002021914 RCV003471116

NM_014714.4(IFT140):c.490G>T (p.Glu164Ter)

SNV
Germline

Chr16:1592468

Pathogenic

Saldino-Mainzer syndrome
IFT140-related disorder
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Asphyxiating thoracic dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA276686193

rs_559314300

4 SubmittersRCV002007187 RCV003913466 RCV005016933 RCV004770312

NM_201253.3(CRB1):c.565G>T (p.Glu189Ter)

SNV
Germline

Chr1:197328916

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344081566

rs_1658692554

2 SubmittersRCV001912801 RCV003475151

NM_152443.3(RDH12):c.866G>A (p.Trp289Ter)

SNV
Germline

Chr14:67733763

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA390154006

rs_2140162488

2 SubmittersRCV002037755 RCV005419285

NM_201253.3(CRB1):c.4005+2T>C

SNV
Germline

Chr1:197442294

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344052789

rs_2125514028

1 SubmittersRCV001994673

NM_001242957.3(MAK):c.1143+6T>C

SNV
Germline

Chr6:10795992

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 62

Criteria Provided
Conflicting Classifications

CA565827419

rs_1394158081

2 SubmittersRCV001972255 RCV003388846

NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter)

SNV
Germline

Chr1:197427577

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344036819

rs_1409490389

3 SubmittersRCV002035427 RCV003475209 RCV005006308

NM_014714.4(IFT140):c.160C>T (p.Pro54Ser)

SNV
Germline

Chr16:1602579

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Inborn genetic diseases
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814798

rs_771294438

3 SubmittersRCV001976858 RCV003170334 RCV005016999

NM_201253.3(CRB1):c.848+1G>A

SNV
Germline

Chr1:197344477

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344083660

rs_2125328634

3 SubmittersRCV001900241 RCV003475135 RCV004815701

NM_205861.3(DHDDS):c.714G>A (p.Trp238Ter)

SNV
Germline

Chr1:26460093

Pathogenic

Retinitis pigmentosa 59

Criteria Provided
Single Submitter

CA339145209

rs_2124501559

1 SubmittersRCV001896662

NM_000329.3(RPE65):c.247T>C (p.Phe83Leu)

SNV
Germline

Chr1:68444882

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340748617

rs_2100828545

1 SubmittersRCV001942144

NM_001142800.2(EYS):c.3172G>T (p.Glu1058Ter)

SNV
Germline

Chr6:64821716

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364787292

rs_2150022015

2 SubmittersRCV001942192 RCV005032004

NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)

SNV
Germline

Chr2:27445320

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Multiple Submitters
No Conflicts

CA346413434

rs_1329856696

2 SubmittersRCV001962945 RCV002497875

NM_174878.3(CLRN1):c.513T>A (p.Tyr171Ter)

SNV
Germline

Chr3:150928122

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA354953162

rs_745585873

2 SubmittersRCV001962952 RCV003471164

NM_201253.3(CRB1):c.3653G>C (p.Cys1218Ser)

SNV
Germline

Chr1:197435516

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
not specified

Criteria Provided
Conflicting Classifications

CA344050250

rs_1450635782

2 SubmittersRCV002013759 RCV004699644

NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser)

SNV
Germline

Chr16:1523950

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7813273

rs_763140298

3 SubmittersRCV002013907 RCV002486672 RCV004982846

NM_001142800.2(EYS):c.342T>A (p.Cys114Ter)

SNV
Germline

Chr6:65495069

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364790125

rs_1418930514

2 SubmittersRCV001942039 RCV003471158

NM_206933.4(USH2A):c.14134-3169A>G

SNV
Germline

Chr1:215653970

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Retinitis pigmentosa
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA37395270

rs_998302546

4 SubmittersRCV001989163 RCV003324581 RCV003446982 RCV003324580 RCV003446981

NM_201548.5(CERKL):c.1074-2A>G

SNV
Germline

Chr2:181548606

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349736663

rs_2105803582

2 SubmittersRCV002046207 RCV003475298

NM_000329.3(RPE65):c.405T>A (p.Asn135Lys)

SNV
Germline

Chr1:68444621

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340747891

rs_1645928294

1 SubmittersRCV002031094

NM_001142800.2(EYS):c.1599+1G>T

SNV
Germline

Chr6:65344037

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364661284

rs_2150319815

2 SubmittersRCV002031133 RCV003471281

NM_031885.5(BBS2):c.963G>A (p.Thr321=)

SNV
Germline

Chr16:56502434

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
BBS2-related disorder
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Conflicting Classifications

CA8065855

rs_748014865

3 SubmittersRCV001895556 RCV004538577 RCV005016739

NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg)

SNV
Germline

Chr16:1525930

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7813517

rs_201100248

2 SubmittersRCV001965229 RCV002484693

NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp)

SNV
Germline

Chr1:215900144

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1394814

rs_1394948601

4 SubmittersRCV001893744 RCV003471017 RCV005016780 RCV003888392

NM_001142800.2(EYS):c.4655T>G (p.Leu1552Ter)

SNV
Germline

Chr6:64591212

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA140340937

rs_1054515897

3 SubmittersRCV001994842 RCV003471143

NM_001142800.2(EYS):c.1521C>A (p.Cys507Ter)

SNV
Germline

Chr6:65344116

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364661458

rs_1416709406

2 SubmittersRCV002002507 RCV003471144

NM_000329.3(RPE65):c.725+1G>A

SNV
Germline

Chr1:68439560

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340745904

rs_1260969698

2 SubmittersRCV001941576 RCV003471147

NM_152419.3(HGSNAT):c.781G>T (p.Gly261Ter)

SNV
Germline

Chr8:43172347

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371116368

rs_2130750698

1 SubmittersRCV001960510

NM_000350.3(ABCA4):c.5714+1G>A

SNV
Germline

Chr1:94010799

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341280688

rs_1232476760

2 SubmittersRCV001946958 RCV005032010

NM_174878.3(CLRN1):c.253+1G>A

SNV
Germline

Chr3:150972455

Likely pathogenic

Condition: not provided
Usher syndrome type 3A
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA355011730

rs_1329440649

2 SubmittersRCV002016936 RCV005032114

NM_015662.3(IFT172):c.184-2A>C

SNV
Germline

Chr2:27485132

Likely pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346402852

rs_2148559396

2 SubmittersRCV002035036 RCV004552055

NM_201253.3(CRB1):c.2842+2T>C

SNV
Germline

Chr1:197429616

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344041413

rs_2125489334

1 SubmittersRCV002041452

NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter)

SNV
Germline

Chr8:43192376

Pathogenic/Likely pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Multiple Submitters
No Conflicts

CA371119685

rs_1804568176

2 SubmittersRCV001877710 RCV003228806

NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg)

SNV
Germline

Chr1:197435305

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344047937

rs_2125500491

5 SubmittersRCV001951032 RCV004690198 RCV003475229 RCV005008299

NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter)

SNV
Germline

Chr2:27459815

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Multiple Submitters
No Conflicts

CA1580254

rs_761095604

2 SubmittersRCV001972379 RCV002507702

NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter)

SNV
Germline

Chr4:15478804

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356407240

rs_2108970120

2 SubmittersRCV001946878 RCV005025525

NM_201253.3(CRB1):c.652+1G>A

SNV
Germline

Chr1:197329004

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinal dystrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344081768

rs_2125304900

5 SubmittersRCV002037978 RCV002246640 RCV003446979 RCV004816874 RCV003446978 RCV005008357

NM_201253.3(CRB1):c.3878+1G>A

SNV
Germline

Chr1:197438676

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1312422

rs_748927280

1 SubmittersRCV002020594

NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)

SNV
Germline

Chr4:625888

Pathogenic

Condition: not provided
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA91052133

rs_970768801

2 SubmittersRCV001894137 RCV002503398

NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp)

SNV
Germline

Chr2:27472261

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
IFT172-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1580630

rs_779152335

4 SubmittersRCV001925851 RCV002484481 RCV004552106 RCV005350747

NM_206933.4(USH2A):c.15297+1G>T

SNV
Germline

Chr1:215634458

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344823196

rs_767630412

2 SubmittersRCV001966539 RCV003471208

NM_205861.3(DHDDS):c.112C>T (p.Arg38Cys)

SNV
Germline

Chr1:26438216

Conflicting classifications of pathogenicity

Retinitis pigmentosa 59
Developmental delay and seizures with or without movement abnormalities
Condition: not provided

Criteria Provided
Conflicting Classifications

CA339138689

rs_2124374558

3 SubmittersRCV001966556 RCV003152785 RCV002255191

NM_201253.3(CRB1):c.3749+1G>A

SNV
Germline

Chr1:197435613

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344050707

rs_2125501295

1 SubmittersRCV001991452

NM_201253.3(CRB1):c.2536G>A (p.Gly846Arg)

SNV
Germline

Chr1:197427861

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1312134

rs_539189291

2 SubmittersRCV001963012 RCV004794566

NM_201253.3(CRB1):c.3988G>T (p.Glu1330Ter)

SNV
Germline

Chr1:197442275

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344052686

rs_1372774777

3 SubmittersRCV001942337 RCV005008297 RCV003475225

NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter)

SNV
Germline

Chr1:215934748

Pathogenic

Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344857854

rs_376983577

5 SubmittersRCV003453865 RCV001970023 RCV002307814 RCV005016947

NM_000329.3(RPE65):c.725+2T>C

SNV
Germline

Chr1:68439559

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745900

rs_1355979496

1 SubmittersRCV001958678

NM_001378615.1(CC2D2A):c.2625G>C (p.Ser875=)

SNV
Germline

Chr4:15555210

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA438389068

rs_765873247

2 SubmittersRCV002051357 RCV005023290

NM_206933.4(USH2A):c.5528C>T (p.Pro1843Leu)

SNV
Germline

Chr1:216078133

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA37441295

rs_200209833

3 SubmittersRCV001925319 RCV005016795 RCV004587245

NM_201253.3(CRB1):c.998G>C (p.Gly333Ala)

SNV
Germline

Chr1:197356840

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344084316

rs_587783015

1 SubmittersRCV001956079

NM_201253.3(CRB1):c.1997T>A (p.Val666Asp)

SNV
Germline

Chr1:197421825

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA35893916

rs_189395222

2 SubmittersRCV001956081 RCV004571740

NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)

SNV
Germline

Chr1:215648621

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1393018

rs_184351619

5 SubmittersRCV001956100 RCV003453876 RCV003453877 RCV002497885

NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter)

SNV
Germline

Chr1:215798991

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344848988

rs_2102778615

4 SubmittersRCV001956108 RCV003453878 RCV004571741

NM_015662.3(IFT172):c.2146C>T (p.Gln716Ter)

SNV
Germline

Chr2:27461806

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346384891

rs_2148507566

1 SubmittersRCV001972762

NM_152419.3(HGSNAT):c.118+2T>C

SNV
Germline

Chr8:43140616

Likely pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371124720

rs_2130648749

1 SubmittersRCV002000919

NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr)

SNV
Germline

Chr16:1568270

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7814167

rs_528350505

2 SubmittersRCV001960245 RCV002479538

NM_015662.3(IFT172):c.2521+1G>T

SNV
Germline

Chr2:27461014

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346383425

rs_2148505406

1 SubmittersRCV001961560

NM_206933.4(USH2A):c.12569T>C (p.Val4190Ala)

SNV
Germline

Chr1:215675342

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37413100

rs_979037444

2 SubmittersRCV001961671 RCV004571852

NM_201253.3(CRB1):c.2128G>A (p.Glu710Lys)

SNV
Germline

Chr1:197421956

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA1312035

rs_62645755

1 SubmittersRCV001961694

NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr)

SNV
Germline

Chr1:197421588

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA344032516

rs_1471328495

4 SubmittersRCV002019364 RCV003475279 RCV003888988

NM_201253.3(CRB1):c.3419T>A (p.Leu1140Ter)

SNV
Germline

Chr1:197435282

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344047724

rs_1342970033

2 SubmittersRCV001944050 RCV005006258

NM_014714.4(IFT140):c.482C>A (p.Pro161His)

SNV
Germline

Chr16:1592476

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7814690

rs_191927317

2 SubmittersRCV001909274 RCV002490239

NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr)

SNV
Germline

Chr2:27447562

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1579546

rs_770733075

4 SubmittersRCV001959794 RCV004552120 RCV005350770

NM_201253.3(CRB1):c.2393T>A (p.Leu798Ter)

SNV
Germline

Chr1:197427718

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344037119

rs_2125484499

1 SubmittersRCV001918230

NM_144596.4(TTC8):c.145-10T>C

SNV
Germline

Chr14:88839442

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Retinitis pigmentosa 51

Criteria Provided
Conflicting Classifications

CA7302376

rs_754997963

2 SubmittersRCV001935799 RCV002479412

NM_015629.4(PRPF31):c.251T>C (p.Val84Ala)

SNV
Germline

Chr19:54121872

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 11

Criteria Provided
Conflicting Classifications

CA309323447

rs_369049017

4 SubmittersRCV002002588 RCV003888959 RCV004785424

NM_001029883.3(PCARE):c.551A>G (p.His184Arg)

SNV
Germline

Chr2:29073711

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 54

Criteria Provided
Conflicting Classifications

CA1592634

rs_774515390

2 SubmittersRCV001902288 RCV005253910

NM_001297.5(CNGB1):c.2030G>A (p.Arg677His)

SNV
Germline

Chr16:57917404

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8083194

rs_375519490

2 SubmittersRCV002026702 RCV005008430

NM_015662.3(IFT172):c.4311+1G>A

SNV
Germline

Chr2:27449293

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346420586

rs_2148477195

1 SubmittersRCV002026903

NM_206933.4(USH2A):c.11806A>C (p.Thr3936Pro)

SNV
Germline

Chr1:215728290

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344829290

rs_2102713705

3 SubmittersRCV002026997 RCV004571989 RCV005254021

NM_015662.3(IFT172):c.877G>A (p.Ala293Thr)

SNV
Germline

Chr2:27480058

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Inborn genetic diseases
IFT172-related disorder
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1580843

rs_370903625

4 SubmittersRCV001863567 RCV003164055 RCV004738398 RCV005023295

NM_001142800.2(EYS):c.2641+1G>A

SNV
Germline

Chr6:64912483

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364786055

rs_1768029728

2 SubmittersRCV001974701 RCV003471085

NM_201253.3(CRB1):c.716G>C (p.Cys239Ser)

SNV
Germline

Chr1:197344344

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1311694

rs_771079655

1 SubmittersRCV001960197

NM_001142800.2(EYS):c.4219C>T (p.Gln1407Ter)

SNV
Germline

Chr6:64591648

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364783789

rs_1421392730

2 SubmittersRCV001863426 RCV004571431

NM_201253.3(CRB1):c.852T>A (p.Tyr284Ter)

SNV
Germline

Chr1:197347343

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA36048736

rs_1046799192

1 SubmittersRCV001907778

NM_206933.4(USH2A):c.2167+15A>G

SNV
Germline

Chr1:216250888

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1396291

rs_779599960

2 SubmittersRCV001913997 RCV002484545

NM_152419.3(HGSNAT):c.1378-2A>G

SNV
Germline

Chr8:43193755

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA371119803

rs_2130810560

1 SubmittersRCV001973705

NM_152419.3(HGSNAT):c.847C>T (p.Pro283Ser)

SNV
Germline

Chr8:43173739

Conflicting classifications of pathogenicity

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
not specified

Criteria Provided
Conflicting Classifications

CA371116538

rs_2130754863

2 SubmittersRCV002009085 RCV004770348

NM_015662.3(IFT172):c.3952-1G>C

SNV
Germline

Chr2:27450097

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346422497

rs_2148479160

1 SubmittersRCV002020969

NM_001142800.2(EYS):c.1299+2T>A

SNV
Germline

Chr6:65384384

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364661968

rs_2150351826

2 SubmittersRCV002021183 RCV004571984

NM_205861.3(DHDDS):c.565G>A (p.Asp189Asn)

SNV
Germline

Chr1:26457813

Conflicting classifications of pathogenicity

Inborn genetic diseases
Retinitis pigmentosa 59
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA705402

rs_748833924

4 SubmittersRCV002547894 RCV002039943 RCV003883711 RCV004815660

NM_015629.4(PRPF31):c.528G>A (p.Gly176=)

SNV
Germline

Chr19:54123749

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA309325061

rs_368977441

3 SubmittersRCV001968354 RCV002272542 RCV004044459

NM_001242957.3(MAK):c.832-1G>C

SNV
Germline

Chr6:10796310

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 62

Criteria Provided
Multiple Submitters
No Conflicts

CA3633611

rs_780978066

2 SubmittersRCV002021771 RCV003138052

NM_001142800.2(EYS):c.1480C>T (p.Gln494Ter)

SNV
Germline

Chr6:65344157

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364661544

rs_1207818522

3 SubmittersRCV001892459 RCV004571519

NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)

SNV
Germline

Chr1:197438659

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344051009

rs_2125506459

4 SubmittersRCV001986193 RCV002492273 RCV003453933 RCV003453932 RCV003453931

NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp)

SNV
Germline

Chr2:27445070

Conflicting classifications of pathogenicity

Retinal dystrophy
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA1579358

rs_560831644

3 SubmittersRCV003888374 RCV001922303 RCV002506953

NM_006915.3(RP2):c.758T>G (p.Leu253Arg)

SNV
Germline

ChrX:46854131

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA413040650

rs_2147081596

2 SubmittersRCV001916442 RCV005238060

NM_206933.4(USH2A):c.4820G>A (p.Trp1607Ter)

SNV
Germline

Chr1:216089078

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395610

rs_769612846

2 SubmittersRCV001957632 RCV003471086

NM_001142800.2(EYS):c.748+1G>A

SNV
Germline

Chr6:65494662

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364789219

rs_1766169568

2 SubmittersRCV001979261 RCV003471204

NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr)

SNV
Germline

Chr1:216190315

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1395753

rs_752059469

3 SubmittersRCV002022445 RCV002486640 RCV005301068

NM_152419.3(HGSNAT):c.1543-2A>G

SNV
Germline

Chr8:43197670

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA371120399

rs_1804769861

2 SubmittersRCV002045234 RCV005254012

NM_000541.5(SAG):c.435+1G>A

SNV
Germline

Chr2:233323006

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 96
Oguchi disease-1
Retinitis pigmentosa 47

Criteria Provided
Multiple Submitters
No Conflicts

CA351046858

rs_750740193

2 SubmittersRCV002001672 RCV005017027

NM_152419.3(HGSNAT):c.1621T>A (p.Ser541Thr)

SNV
Germline

Chr8:43197847

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA371120617

rs_2130821593

1 SubmittersRCV002027204

NM_152419.3(HGSNAT):c.118+1G>A

SNV
Germline

Chr8:43140615

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA371124716

rs_1324229618

2 SubmittersRCV001983953

NM_014714.4(IFT140):c.481C>A (p.Pro161Thr)

SNV
Germline

Chr16:1592477

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Condition: not provided
IFT140-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7814694

rs_148462329

5 SubmittersRCV002038579 RCV002507824 RCV004694153 RCV004753478 RCV004816938

NM_205861.3(DHDDS):c.441-2A>T

SNV
Germline

Chr1:26447557

Likely pathogenic

Retinitis pigmentosa 59

Criteria Provided
Single Submitter

CA19772551

rs_922956992

1 SubmittersRCV002043905

NM_001142800.2(EYS):c.8309T>C (p.Leu2770Pro)

SNV
Germline

Chr6:63721722

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA364385221

rs_1186771860

3 SubmittersRCV002038632 RCV003471279 RCV005238182

NM_201548.5(CERKL):c.895+1G>A

SNV
Germline

Chr2:181549633

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349737616

rs_1283975197

2 SubmittersRCV002030771 RCV004571995

NM_014714.4(IFT140):c.1504G>A (p.Val502Ile)

SNV
Germline

Chr16:1580779

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814263

rs_183261797

2 SubmittersRCV001981015 RCV002507764

NM_014714.4(IFT140):c.3234C>T (p.Gly1078=)

SNV
Germline

Chr16:1523864

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7813249

rs_200748918

2 SubmittersRCV002024821 RCV005017089

NM_015662.3(IFT172):c.1964C>T (p.Ala655Val)

SNV
Germline

Chr2:27463155

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580469

rs_370407165

3 SubmittersRCV002135900 RCV005017152 RCV004553831

NM_205861.3(DHDDS):c.542+8G>T

SNV
Germline

Chr1:26447668

Conflicting classifications of pathogenicity

Retinitis pigmentosa 59
not specified

Criteria Provided
Conflicting Classifications

CA339143535

rs_149948788

2 SubmittersRCV002159300 RCV005239302

NM_201253.3(CRB1):c.4029C>T (p.Asp1343=)

SNV
Germline

Chr1:197477687

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1312538

rs_780087216

2 SubmittersRCV002161543 RCV003889090

NM_015662.3(IFT172):c.4611C>T (p.Ile1537=)

SNV
Germline

Chr2:27447563

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA44517484

rs_901644807

2 SubmittersRCV002196502 RCV003889099

NM_015662.3(IFT172):c.4950T>G (p.Leu1650=)

SNV
Germline

Chr2:27445414

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA425412406

rs_1238278691

2 SubmittersRCV002103182 RCV003889044

NM_001378615.1(CC2D2A):c.439-13T>G

SNV
Germline

Chr4:15510126

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA549889137

rs_1305181844

2 SubmittersRCV002122281 RCV005025704

NM_014714.4(IFT140):c.1368C>T (p.Val456=)

SNV
Germline

Chr16:1583378

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA276679848

rs_561657958

3 SubmittersRCV002162594 RCV005008466 RCV003889055

NM_006343.3(MERTK):c.2435A>G (p.Tyr812Cys)

SNV
Germline

Chr2:112022343

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
MERTK-related disorder
Retinitis pigmentosa 38

Criteria Provided
Conflicting Classifications

CA1831831

rs_141361084

4 SubmittersRCV002204833 RCV003889031 RCV004756352 RCV005397302

NM_014714.4(IFT140):c.3660+12C>T

SNV
Germline

Chr16:1520590

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7813088

rs_755939601

2 SubmittersRCV002108214 RCV005017131

NM_015662.3(IFT172):c.786-18C>G

SNV
Germline

Chr2:27480167

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1580865

rs_773491435

2 SubmittersRCV002087241 RCV005017105

NM_201253.3(CRB1):c.3213C>T (p.Leu1071=)

SNV
Germline

Chr1:197435076

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA422809231

rs_2125499764

2 SubmittersRCV002087318 RCV003889016

NM_201253.3(CRB1):c.2018A>G (p.Lys673Arg)

SNV
Germline

Chr1:197421846

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1312018

rs_145956521

2 SubmittersRCV002135605 RCV003061773

NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu)

SNV
Germline

ChrX:13769096

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10352147

rs_758646234

3 SubmittersRCV002121294 RCV004046541 RCV005042739

NM_201253.3(CRB1):c.3956T>A (p.Phe1319Tyr)

SNV
Germline

Chr1:197442243

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified

Criteria Provided
Conflicting Classifications

CA1312450

rs_559611648

2 SubmittersRCV002213404 RCV004526908

NM_144596.4(TTC8):c.625-12T>C

SNV
Germline

Chr14:88852959

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Retinitis pigmentosa 51

Criteria Provided
Conflicting Classifications

CA7302550

rs_372412832

2 SubmittersRCV002105270 RCV005008459

NM_015662.3(IFT172):c.337-5C>T

SNV
Germline

Chr2:27483942

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Inborn genetic diseases
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1581014

rs_141086523

3 SubmittersRCV002207760 RCV004045675 RCV004553690

NM_015662.3(IFT172):c.2442+13C>T

SNV
Germline

Chr2:27461256

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1580315

rs_749766704

2 SubmittersRCV005017137 RCV002158097

NM_020843.4(SCAPER):c.125-1G>A

SNV
Germline

Chr15:76857880

Likely pathogenic

Intellectual developmental disorder and retinitis pigmentosa
IDDRP

Criteria Provided
Single Submitter

CA393638652

rs_2151864247

1 SubmittersRCV002221861

NM_178857.6(RP1L1):c.2380G>T (p.Glu794Ter)

SNV
Germline

Chr8:10611718

Likely pathogenic

Retinitis pigmentosa 88

Criteria Provided
Single Submitter

CA4624852

rs_267601690

1 SubmittersRCV002225214

NM_000329.3(RPE65):c.938A>G (p.His313Arg)

SNV
Germline

Chr1:68439002

Pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340744821

rs_1375943362

5 SubmittersRCV002226568 RCV003987987 RCV003101291 RCV004527444

NM_178857.6(RP1L1):c.403C>T (p.Gln135Ter)

SNV
Germline

Chr8:10622799

Conflicting classifications of pathogenicity

Retinitis pigmentosa 88
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA370300279

rs_2117226120

3 SubmittersRCV002226808 RCV003093893 RCV003889103

NM_177965.4(CFAP418):c.414G>A (p.Leu138=)

SNV
Germline

Chr8:95252244

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-biedl syndrome 21
Cone-rod dystrophy 16
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA4815145

rs_150592488

2 SubmittersRCV002238768 RCV002481046

NM_015629.4(PRPF31):c.945+2T>G

SNV
Germline

Chr19:54126619

Likely pathogenic

Retinitis pigmentosa 11

Criteria Provided
Single Submitter

CA407751960

rs_2146437002

1 SubmittersRCV002246221

NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly)

SNV
Germline

Chr6:42721800

Likely pathogenic

Pigmentary retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 7

Criteria Provided
Multiple Submitters
No Conflicts

CA364137343

rs_61755796

3 SubmittersRCV002249143 RCV004816984 RCV003152791

NM_001034853.2(RPGR):c.2140G>T (p.Glu714Ter)

SNV
Germline

ChrX:38286859

Likely pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

CA412731353

rs_2147199519

1 SubmittersRCV002249154

NM_001034853.2(RPGR):c.29-2A>G

SNV
Germline

ChrX:38323526

Likely pathogenic

Retinitis pigmentosa 3
Retinal dystrophy

Criteria Provided
Single Submitter

CA412746218

rs_2147291936

2 SubmittersRCV002249155 RCV004816985

NM_001142800.2(EYS):c.8236G>T (p.Asp2746Tyr)

SNV
Germline

Chr6:63721795

Pathogenic

Retinitis pigmentosa 25
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA364385459

rs_1349879153

2 SubmittersRCV002249943 RCV005433187

NM_000440.3(PDE6A):c.1838+1G>A

SNV
Germline

Chr5:149886264

Pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

CA361693636

rs_2113558095

1 SubmittersRCV002250182

NM_001375654.1(RP1):c.2212-1G>A

SNV
Germline

Chr8:54720128

Pathogenic

Retinitis pigmentosa 1

Criteria Provided
Single Submitter

CA177543280

rs_997666144

1 SubmittersRCV002250296

NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter)

SNV
Germline

ChrX:38285815

Pathogenic/Likely pathogenic

Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

CA412728812

rs_2147190626

3 SubmittersRCV002250297

NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter)

SNV
Germline

ChrX:38286529

Pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412730567

rs_2147197584

2 SubmittersRCV002250299 RCV005095830

NM_000350.3(ABCA4):c.3470T>G (p.Leu1157Ter)

SNV
Germline

Chr1:94041261

Pathogenic

Retinitis pigmentosa 19
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341290633

rs_2101048479

2 SubmittersRCV005252142 RCV002282701

NM_014249.4(NR2E3):c.352G>C (p.Val118Leu)

SNV
Germline

Chr15:71811957

Likely pathogenic

Retinitis pigmentosa 37

Criteria Provided
Single Submitter

CA7640301

rs_776270511

1 SubmittersRCV002250881

NM_001201543.2(FAM161A):c.1852-2A>T

SNV
Germline

Chr2:61827260

Pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

CA346985016

rs_1672402787

1 SubmittersRCV002250984

NM_001034853.2(RPGR):c.2257G>T (p.Gly753Ter)

SNV
Germline

ChrX:38286742

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

CA412731068

rs_267606453

2 SubmittersRCV002464522 RCV002251050

NM_005869.4(CWC27):c.427C>T (p.Arg143Ter)

SNV
Germline

Chr5:64785511

Pathogenic

Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3281947

rs_773382223

3 SubmittersRCV002251087 RCV003101370

NM_000539.3(RHO):c.851G>A (p.Gly284Asp)

SNV
Germline

Chr3:129532687

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

CA354470585

rs_2084791045

1 SubmittersRCV002251232

NM_001379270.1(CNGA1):c.349G>T (p.Glu117Ter)

SNV
Germline

Chr4:47943269

Likely pathogenic

See cases
Retinitis pigmentosa 49

Criteria Provided
Multiple Submitters
No Conflicts

CA356832333

rs_539600817

2 SubmittersRCV002252864 RCV003447619

NM_006343.3(MERTK):c.1647T>G (p.Tyr549Ter)

SNV
Germline

Chr2:112001243

Pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348232210

rs_1676862579

1 SubmittersRCV002255114

NM_005869.4(CWC27):c.397-1G>A

SNV
Germline

Chr5:64785480

Likely pathogenic

Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA359844963

rs_2112169750

2 SubmittersRCV002259539

NM_144596.4(TTC8):c.265+1G>A

SNV
Germline

Chr14:88839573

Pathogenic/Likely pathogenic

Retinitis pigmentosa 51
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7302398

rs_139234943

3 SubmittersRCV002262185 RCV003095955 RCV004816991

NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr)

SNV
Germline

Chr16:1607230

Conflicting classifications of pathogenicity

not specified
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814849

rs_554065722

3 SubmittersRCV002266462 RCV003096037 RCV005017176

NM_000283.4(PDE6B):c.1775C>T (p.Thr592Ile)

SNV
Germline

Chr4:662561

Likely pathogenic

Retinitis pigmentosa 40
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA2794676

rs_747684283

2 SubmittersRCV002271996 RCV004794579

NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter)

SNV
Germline

Chr1:215878842

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344830612

rs_2102451648

3 SubmittersRCV002272595 RCV003774864 RCV005017180

NM_000188.3(HK1):c.1240G>A (p.Gly414Arg)

SNV
Germline

Chr10:69380070

Pathogenic/Likely pathogenic

Neurodevelopmental delay
Condition: not provided
Neurodevelopmental disorder with visual defects and brain anomalies
Retinitis pigmentosa 79

Criteria Provided
Multiple Submitters
No Conflicts

CA376917722

rs_2132871580

5 SubmittersRCV002274344 RCV003096169 RCV005416222 RCV004770434

NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)

SNV
Germline

Chr1:68438948

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902335

rs_761471961

3 SubmittersRCV002278955 RCV003096295 RCV003471304

NM_000329.3(RPE65):c.170T>C (p.Phe57Ser)

SNV
Germline

Chr1:68446785

Pathogenic

Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340749087

rs_2523451761

1 SubmittersRCV002281669

NM_000350.3(ABCA4):c.1698C>G (p.His566Gln)

SNV
Germline

Chr1:94063174

Pathogenic

Retinitis pigmentosa 19

Criteria Provided
Single Submitter

CA341280108

rs_768129542

1 SubmittersRCV002281670

NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter)

SNV
Germline

Chr6:63721490

Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364384533

rs_2533391491

3 SubmittersRCV002282842 RCV003471307

NM_174878.3(CLRN1):c.253+6T>C

SNV
Germline

Chr3:150972450

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 3A
Retinitis pigmentosa 61
Retinitis pigmentosa 61

Criteria Provided
Conflicting Classifications

CA547369145

rs_1287122500

4 SubmittersRCV002284799 RCV005032222 RCV003471314

NM_206933.4(USH2A):c.10817T>C (p.Leu3606Pro)

SNV
Germline

Chr1:215779965

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Conflicting Classifications

CA344834094

rs_1402464909

5 SubmittersRCV002287043 RCV003471315 RCV005008520 RCV004700715

NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter)

SNV
Germline

Chr1:216199708

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA344867812

rs_2528045584

3 SubmittersRCV003097723 RCV003454076 RCV004584488

NM_001034853.2(RPGR):c.1813G>T (p.Glu605Ter)

SNV
Germline

ChrX:38287186

Likely pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

CA412732819

rs_2519795177

1 SubmittersRCV002288406

NM_001164665.2(KIAA1549):c.4519C>T (p.Arg1507Ter)

SNV
Germline

Chr7:138871189

Likely pathogenic

Retinitis pigmentosa 86

Criteria Provided
Single Submitter

CA369374482

rs_759848796

1 SubmittersRCV002289427

NM_201253.3(CRB1):c.2420T>G (p.Leu807Arg)

SNV
Germline

Chr1:197427745

Likely pathogenic

Retinitis pigmentosa 12

No Assertion Criteria Provided

CA344037255

rs_1664667136

1 SubmittersRCV002291111

NM_001319074.4(RAX2):c.145T>C (p.Ser49Pro)

SNV
Germline

Chr19:3771598

Pathogenic

Retinitis pigmentosa 95

No Assertion Criteria Provided

CA403375593

rs_2037262817

1 SubmittersRCV002294542

NM_006343.3(MERTK):c.2194C>T (p.Arg732Ter)

SNV
Germline

Chr2:112021426

Pathogenic

Autosomal recessive retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Single Submitter

CA53591319

rs_890258715

2 SubmittersRCV003108009 RCV004794583

NM_014714.4(IFT140):c.1155+1G>A

SNV
Germline

Chr16:1586129

Likely pathogenic

Retinitis pigmentosa
Renal cyst
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

CA7814423

rs_780965515

3 SubmittersRCV002308671 RCV004785570 RCV005017202

NM_206933.4(USH2A):c.7809C>A (p.Cys2603Ter)

SNV
Germline

Chr1:215888840

Likely pathogenic

Usher syndrome type 2
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344839871

rs_766915522

2 SubmittersRCV002308735 RCV003464446

NM_206933.4(USH2A):c.793C>T (p.Gln265Ter)

SNV
Germline

Chr1:216327646

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344912918

rs_1458430039

2 SubmittersRCV002306878 RCV005254059

NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)

SNV
Germline

Chr1:216247125

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344865317

rs_2528163570

3 SubmittersRCV002310316 RCV003464447 RCV005096136

NM_001142800.2(EYS):c.7331T>A (p.Phe2444Tyr)

SNV
Germline

Chr6:63806270

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364387773

rs_2533574070

2 SubmittersRCV002444353

NM_001142800.2(EYS):c.2041G>T (p.Asp681Tyr)

SNV
Germline

Chr6:65057710

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364787737

rs_2533709786

1 SubmittersRCV002444357

NM_001142800.2(EYS):c.2992+1G>A

SNV
Germline

Chr6:64886696

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364788594

rs_2533321017

1 SubmittersRCV002444358

NM_001142800.2(EYS):c.7115T>A (p.Phe2372Tyr)

SNV
Germline

Chr6:63864299

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140252583

rs_1004559050

2 SubmittersRCV002444360 RCV003103036

NM_001142800.2(EYS):c.7327G>T (p.Glu2443Ter)

SNV
Germline

Chr6:63806274

Pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364387782

rs_1459422877

1 SubmittersRCV002444361

NM_001142800.2(EYS):c.7328A>C (p.Glu2443Ala)

SNV
Germline

Chr6:63806273

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364387781

rs_2533574075

2 SubmittersRCV002444362

NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)

SNV
Germline

Chr1:46189953

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

CA340171534

rs_2525345067

2 SubmittersRCV002465017 RCV005019210

NM_001034853.2(RPGR):c.1753+2T>G

SNV
Unknown

ChrX:38287859

Likely pathogenic

X-linked cone-rod dystrophy 1
Retinitis pigmentosa 3
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Macular degeneration, X-linked atrophic

Criteria Provided
Single Submitter

CA412736640

rs_2519797884

1 SubmittersRCV002465050

NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)

SNV
Germline

Chr1:68438228

Conflicting classifications of pathogenicity

RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Conflicting Classifications

CA902299

rs_121917744

3 SubmittersRCV002466805 RCV004720366 RCV005227782

NM_001142800.2(EYS):c.4976T>G (p.Leu1659Ter)

SNV
Germline

Chr6:64590891

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364782127

rs_1466540617

2 SubmittersRCV002466929 RCV003669320

NM_015662.3(IFT172):c.786-2A>T

SNV
Germline

Chr2:27480151

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1580858

rs_757253624

4 SubmittersRCV002471620 RCV004738582 RCV002571459 RCV005025838

NM_001278293.3(ARL6):c.534A>G (p.Gln178=)

SNV
Germline

Chr3:97791825

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2505992

rs_756341249

3 SubmittersRCV002471841 RCV003775513 RCV005626663

NM_001142800.2(EYS):c.7187G>C (p.Cys2396Ser)

SNV
Germline

Chr6:63864227

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA364386321

rs_1395608434

3 SubmittersRCV002473986 RCV005042854 RCV004526932

NM_000883.4(IMPDH1):c.942G>C (p.Lys314Asn)

SNV
Germline

Chr7:128398546

Pathogenic

Retinitis pigmentosa 10

Criteria Provided
Single Submitter

CA369169283

rs_1798090540

1 SubmittersRCV004798947

NM_000440.3(PDE6A):c.1166C>T (p.Pro389Leu)

SNV
Germline

Chr5:149899472

Likely pathogenic

Retinitis pigmentosa 43
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA361696965

rs_1406110455

2 SubmittersRCV005034604 RCV003037124

NM_001142800.2(EYS):c.5330T>A (p.Leu1777Ter)

SNV
Germline

Chr6:64590537

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA140340884

rs_947209456

2 SubmittersRCV003060057 RCV005616561

NM_001142800.2(EYS):c.8098A>T (p.Arg2700Ter)

SNV
Germline

Chr6:63726654

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364386352

rs_1768627952

2 SubmittersRCV003465940 RCV003058798

NM_014249.4(NR2E3):c.1049A>G (p.Gln350Arg)

SNV
Germline

Chr15:71814066

Conflicting classifications of pathogenicity

Retinal dystrophy
Enhanced S-cone syndrome
Retinitis pigmentosa 37
not specified
Condition: not provided
Enhanced S-cone syndrome

Criteria Provided
Conflicting Classifications

CA7640484

rs_756678889

5 SubmittersRCV004817196 RCV005010903 RCV004700915 RCV003064286 RCV003465927

NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn)

SNV
Germline

ChrX:13768729

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Orofaciodigital syndrome I
Retinitis pigmentosa 23

Criteria Provided
Conflicting Classifications

CA10352116

rs_762218314

3 SubmittersRCV003076358 RCV004823092 RCV005045213

NM_201253.3(CRB1):c.3166G>C (p.Asp1056His)

SNV
Germline

Chr1:197435029

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
not specified

Criteria Provided
Conflicting Classifications

CA344046268

rs_727503889

2 SubmittersRCV003053333 RCV004690354

NM_015662.3(IFT172):c.3130C>T (p.Arg1044Ter)

SNV
Germline

Chr2:27457737

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1580072

rs_777676427

2 SubmittersRCV003058907 RCV004725497

NM_000329.3(RPE65):c.717C>G (p.Tyr239Ter)

SNV
Germline

Chr1:68439569

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745922

rs_1366781286

1 SubmittersRCV003068133

NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)

SNV
Germline

Chr1:68438276

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis

Reviewed By Expert Panel

CA23569514

rs_936592713

4 SubmittersRCV003065733 RCV004572741 RCV004801943 RCV005239635

NM_000329.3(RPE65):c.61G>T (p.Glu21Ter)

SNV
Germline

Chr1:68448657

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340750196

rs_2523458378

1 SubmittersRCV003061518

NM_014053.4(FLVCR1):c.1058C>T (p.Thr353Met)

SNV
Germline

Chr1:212883404

Pathogenic/Likely pathogenic

Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1386037

rs_372728084

2 SubmittersRCV004786815 RCV003079015

NM_206933.4(USH2A):c.13531G>A (p.Ala4511Thr)

SNV
Germline

Chr1:215674380

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344844813

rs_1330021955

2 SubmittersRCV003061528 RCV003459736

NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)

SNV
Germline

Chr1:215786726

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344839740

rs_1167540054

4 SubmittersRCV003465946 RCV003455689 RCV003079016 RCV003388149

NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)

SNV
Germline

Chr1:216048614

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1395242

rs_756571385

4 SubmittersRCV003455690 RCV003079018 RCV003226567

NM_015629.4(PRPF31):c.238+1G>A

SNV
Germline

Chr19:54118634

Pathogenic

Condition: not provided
Retinitis pigmentosa 11
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA407790800

rs_779270349

3 SubmittersRCV003061636 RCV005254698 RCV004817225

NM_001034853.2(RPGR):c.1600C>T (p.Gln534Ter)

SNV
Germline

ChrX:38288014

Pathogenic

Primary ciliary dyskinesia
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

CA412737481

rs_2519798907

2 SubmittersRCV003079244 RCV003989145

NM_001378615.1(CC2D2A):c.3924C>T (p.Asn1308=)

SNV
Germline

Chr4:15580120

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA438390588

rs_762297266

2 SubmittersRCV003086559 RCV005034686

NM_000329.3(RPE65):c.131G>C (p.Arg44Pro)

SNV
Germline

Chr1:68446824

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340749207

rs_61751282

1 SubmittersRCV003088739

NM_205861.3(DHDDS):c.893G>A (p.Arg298His)

SNV
Germline

Chr1:26469022

Conflicting classifications of pathogenicity

Retinitis pigmentosa 59
Condition: not provided

Criteria Provided
Conflicting Classifications

CA705482

rs_778103040

2 SubmittersRCV002610139 RCV003410098

NM_024649.5(BBS1):c.526C>T (p.Gln176Ter)

SNV
Germline

Chr11:66515868

Pathogenic

Bardet-Biedl syndrome
BBS1-related disorder
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA381457507

rs_777765120

3 SubmittersRCV003080656 RCV004744587 RCV005419565

NM_201253.3(CRB1):c.2822C>T (p.Pro941Leu)

SNV
Germline

Chr1:197429594

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1312213

rs_77334581

3 SubmittersRCV002598839 RCV003889242 RCV005542944

NM_003611.3(OFD1):c.2489-13G>A

SNV
Germline

ChrX:13763732

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Orofaciodigital syndrome I
Joubert syndrome 10

Criteria Provided
Conflicting Classifications

CA10352024

rs_377737395

2 SubmittersRCV002602865 RCV005045321

NM_001142800.2(EYS):c.3874C>T (p.Gln1292Ter)

SNV
Germline

Chr6:64593120

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364784540

rs_1766462821

2 SubmittersRCV002615637 RCV003459757

NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)

SNV
Germline

Chr8:43192380

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
not specified
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Conflicting Classifications

CA4736844

rs_750583721

3 SubmittersRCV003111629 RCV003235773 RCV002632455

NM_001201543.2(FAM161A):c.493C>T (p.Gln165Ter)

SNV
Germline

Chr2:61840511

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 28
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1679344

rs_758751113

3 SubmittersRCV002592284 RCV003459755 RCV004818228

NM_201253.3(CRB1):c.4005+2T>G

SNV
Germline

Chr1:197442294

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344052791

rs_2125514028

2 SubmittersRCV002651390 RCV005235690

NM_201253.3(CRB1):c.4006-1G>A

SNV
Germline

Chr1:197477663

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA1312533

rs_752804194

1 SubmittersRCV002651391

NM_206933.4(USH2A):c.14174G>A (p.Trp4725Ter)

SNV
Germline

Chr1:215650761

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344835905

rs_2464821210

2 SubmittersRCV002651402 RCV005021661

NM_206933.4(USH2A):c.13546G>T (p.Gly4516Trp)

SNV
Germline

Chr1:215674365

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344844674

rs_2464894731

3 SubmittersRCV002651404 RCV003459770 RCV004801297

NM_206933.4(USH2A):c.9449G>A (p.Trp3150Ter)

SNV
Germline

Chr1:215817118

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA344825068

rs_1662880550

4 SubmittersRCV002651408 RCV003459771 RCV005227813

NM_206933.4(USH2A):c.9371+1G>T

SNV
Germline

Chr1:215837990

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344834527

rs_41308425

2 SubmittersRCV002664209 RCV003475521

NM_206933.4(USH2A):c.4252-1G>A

SNV
Germline

Chr1:216190368

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344865627

rs_2528020496

2 SubmittersRCV002651415 RCV005011099

NM_206933.4(USH2A):c.3648C>A (p.Tyr1216Ter)

SNV
Germline

Chr1:216199790

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344867981

rs_147947402

2 SubmittersRCV002651417 RCV005011100

NM_206933.4(USH2A):c.2149T>G (p.Cys717Gly)

SNV
Germline

Chr1:216250921

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344866071

rs_1304016981

3 SubmittersRCV002651418 RCV004587448 RCV005011101

NM_015662.3(IFT172):c.5161-5C>G

SNV
Germline

Chr2:27444526

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA531445676

rs_1259207198

2 SubmittersRCV002624130 RCV005028287

NM_206933.4(USH2A):c.11328T>G (p.Tyr3776Ter)

SNV
Germline

Chr1:215758656

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1393767

rs_749726310

3 SubmittersRCV002648031 RCV003889266 RCV005021658

NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)

SNV
Germline

Chr1:68444818

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340748262

rs_61752875

2 SubmittersRCV002634293 RCV005425068

NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)

SNV
Germline

Chr1:68444819

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902547

rs_767478543

3 SubmittersRCV002634294 RCV005239705 RCV003465996

NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)

SNV
Germline

Chr1:197421188

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
not specified
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA35893417

rs_954595597

4 SubmittersRCV002651385 RCV003455745 RCV003324081 RCV003455743 RCV003455744 RCV005011098

NM_201253.3(CRB1):c.2086T>C (p.Cys696Arg)

SNV
Germline

Chr1:197421914

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344034095

rs_2528114733

1 SubmittersRCV002651386

NM_201253.3(CRB1):c.2696G>C (p.Gly899Ala)

SNV
Germline

Chr1:197429468

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344040428

rs_1254393801

1 SubmittersRCV002664200

NM_201253.3(CRB1):c.3152G>A (p.Trp1051Ter)

SNV
Germline

Chr1:197435015

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344046087

rs_1665070172

1 SubmittersRCV002634327

NM_201253.3(CRB1):c.3460T>A (p.Cys1154Ser)

SNV
Germline

Chr1:197435323

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344048058

rs_2528202588

1 SubmittersRCV002651388

NM_201253.3(CRB1):c.3668G>C (p.Cys1223Ser)

SNV
Germline

Chr1:197435531

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344050345

rs_2528204865

1 SubmittersRCV002651389

NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)

SNV
Germline

Chr1:197442201

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344052517

rs_1391910861

2 SubmittersRCV003475520 RCV002664202

NM_201253.3(CRB1):c.2054G>C (p.Gly685Ala)

SNV
Germline

Chr1:197421882

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA1312029

rs_748175297

1 SubmittersRCV002633018

NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)

SNV
Germline

ChrX:13761196

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Retinal dystrophy
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351984

rs_753498008

4 SubmittersRCV002625211 RCV003889261 RCV004823119 RCV005045360

NM_174878.3(CLRN1):c.149C>A (p.Ser50Ter)

SNV
Germline

Chr3:150972560

Pathogenic

Condition: not provided
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA355011956

rs_1463067573

2 SubmittersRCV002651756 RCV003466001

NM_000283.4(PDE6B):c.1568T>G (p.Met523Arg)

SNV
Germline

Chr4:660567

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA91087508

rs_977903615

2 SubmittersRCV002651782 RCV003324588

NM_001378615.1(CC2D2A):c.2581G>A (p.Asp861Asn)

SNV
Germline

Chr4:15555166

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
not specified

Criteria Provided
Conflicting Classifications

CA356420697

rs_1367275342

3 SubmittersRCV002651820 RCV005028330 RCV004526968

NM_144596.4(TTC8):c.677G>A (p.Trp226Ter)

SNV
Germline

Chr14:88853023

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa 51
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA264565310

rs_948160026

3 SubmittersRCV003104968 RCV003459776 RCV004818285

NM_152419.3(HGSNAT):c.494-1G>A

SNV
Germline

Chr8:43161437

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371115725

rs_2486918882

1 SubmittersRCV003112196

NM_206933.4(USH2A):c.1551-27A>G

SNV
Germline

Chr1:216322003

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA528970345

rs_1300984501

2 SubmittersRCV003118874 RCV005254736

NM_144596.4(TTC8):c.256C>T (p.Gln86Ter)

SNV
Germline

Chr14:88839563

Pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa 51

Criteria Provided
Multiple Submitters
No Conflicts

CA264582193

rs_928368462

2 SubmittersRCV003116994 RCV003459780

NM_012418.4(FSCN2):c.146A>C (p.Glu49Ala)

SNV
Germline

Chr17:81528677

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinal dystrophy
Retinitis pigmentosa 30

Criteria Provided
Conflicting Classifications

CA8836595

rs_200600577

4 SubmittersRCV002586598 RCV004064468 RCV003889118 RCV005398938

NM_014714.4(IFT140):c.482C>G (p.Pro161Arg)

SNV
Germline

Chr16:1592476

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814692

rs_191927317

2 SubmittersRCV002589091 RCV005019248

NM_001378615.1(CC2D2A):c.3535G>T (p.Glu1179Ter)

SNV
Germline

Chr4:15570437

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA2864199

rs_767783281

2 SubmittersRCV002577667 RCV005032313

NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro)

SNV
Germline

Chr1:197435008

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA344045988

rs_2528199038

2 SubmittersRCV002594786 RCV005616425

NM_001142800.2(EYS):c.6799C>T (p.Gln2267Ter)

SNV
Germline

Chr6:63999110

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364389593

rs_2533373825

2 SubmittersRCV002593703 RCV003464569

NM_001142800.2(EYS):c.3886C>T (p.Gln1296Ter)

SNV
Germline

Chr6:64591981

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364784502

rs_2533155884

3 SubmittersRCV002613395 RCV003475402

NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys)

SNV
Germline

ChrX:13767199

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10352062

rs_769469366

3 SubmittersRCV002589811 RCV004823043 RCV005042887

NM_206933.4(USH2A):c.1571C>A (p.Ala524Asp)

SNV
Germline

Chr1:216321956

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1396469

rs_772624410

3 SubmittersRCV002594411 RCV003465791 RCV005008655

NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)

SNV
Germline

Chr1:197421233

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Leber congenital amaurosis 8
not specified

Criteria Provided
Conflicting Classifications

CA344030762

rs_2528105698

5 SubmittersRCV002614384 RCV005008667 RCV003475405 RCV004690310

NM_015662.3(IFT172):c.952C>T (p.Arg318Ter)

SNV
Germline

Chr2:27479562

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA1580817

rs_751177541

1 SubmittersRCV002649503

NM_001297.5(CNGB1):c.458+1G>A

SNV
Germline

Chr16:57962564

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA396078525

rs_1445887025

2 SubmittersRCV002643462 RCV005019313

NM_201253.3(CRB1):c.549C>A (p.Cys183Ter)

SNV
Germline

Chr1:197328900

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344081529

rs_756544059

2 SubmittersRCV002671469 RCV003475411

NM_152419.3(HGSNAT):c.744-2A>C

SNV
Germline

Chr8:43172308

Likely pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371116284

rs_762402992

1 SubmittersRCV002685668

NM_015662.3(IFT172):c.4733A>G (p.Tyr1578Cys)

SNV
Germline

Chr2:27446282

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA1579509

rs_761504464

1 SubmittersRCV002676048

NM_014714.4(IFT140):c.1009+1G>T

SNV
Germline

Chr16:1587197

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA394216559

rs_1221367358

4 SubmittersRCV002695487 RCV005008700 RCV003409908 RCV005406501

NM_201253.3(CRB1):c.2885T>A (p.Leu962Ter)

SNV
Germline

Chr1:197434748

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344043230

rs_2528195914

1 SubmittersRCV002690589

NM_001367823.1(ARHGEF18):c.968-251G>A

SNV
Germline

Chr19:7440093

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 78

Criteria Provided
Conflicting Classifications

CA304877452

rs_955776981

2 SubmittersRCV002720392 RCV003138334

NM_201253.3(CRB1):c.3913C>G (p.Pro1305Ala)

SNV
Germline

Chr1:197442200

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344052509

rs_2528243703

1 SubmittersRCV002686099

NM_001142800.2(EYS):c.4976T>A (p.Leu1659Ter)

SNV
Germline

Chr6:64590891

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364782129

rs_1466540617

2 SubmittersRCV002710543 RCV005616439

NM_201253.3(CRB1):c.2695G>A (p.Gly899Arg)

SNV
Germline

Chr1:197429467

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344040422

rs_2528165311

1 SubmittersRCV002740100

NM_174878.3(CLRN1):c.190G>C (p.Gly64Arg)

SNV
Germline

Chr3:150972519

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA355011865

rs_1380661508

2 SubmittersRCV002716617 RCV004571222

NM_206933.4(USH2A):c.497A>G (p.Glu166Gly)

SNV
Germline

Chr1:216418668

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1396767

rs_747778052

3 SubmittersRCV002766908 RCV005406519 RCV003464595

NM_031885.5(BBS2):c.79A>C (p.Thr27Pro)

SNV
Germline

Chr16:56519784

Pathogenic/Likely pathogenic

Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395988064

rs_776681366

3 SubmittersRCV005019395 RCV002805536

NM_201253.3(CRB1):c.1171+1G>A

SNV
Germline

Chr1:197357014

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344084686

rs_2527717111

1 SubmittersRCV002790651

NM_014714.4(IFT140):c.4041-2A>G

SNV
Germline

Chr16:1518359

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

CA394223851

rs_2040425342

2 SubmittersRCV002761577 RCV005008737

NM_201253.3(CRB1):c.2264T>C (p.Leu755Ser)

SNV
Germline

Chr1:197427589

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344036851

rs_2528148484

1 SubmittersRCV002776168

NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)

SNV
Germline

Chr8:43140502

Conflicting classifications of pathogenicity

Inborn genetic diseases
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Conflicting Classifications

CA176095903

rs_535427008

2 SubmittersRCV002751092 RCV002751093

NM_000329.3(RPE65):c.1291T>C (p.Tyr431His)

SNV
Germline

Chr1:68431329

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA23564019

rs_985047210

3 SubmittersRCV002770833 RCV005054423 RCV004794594

NM_001142800.2(EYS):c.6270G>A (p.Trp2090Ter)

SNV
Germline

Chr6:64230746

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364391472

rs_1276354912

2 SubmittersRCV002805634 RCV003465833

NM_152419.3(HGSNAT):c.1228C>T (p.Leu410=)

SNV
Germline

Chr8:43191573

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA371119312

rs_367831580

2 SubmittersRCV002805640 RCV003889161

NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter)

SNV
Germline

Chr1:68431117

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340741973

rs_764189309

1 SubmittersRCV002824485

NM_205861.3(DHDDS):c.513G>A (p.Trp171Ter)

SNV
Germline

Chr1:26447631

Pathogenic/Likely pathogenic

Retinitis pigmentosa 59

Criteria Provided
Multiple Submitters
No Conflicts

CA339143386

rs_2075282065

2 SubmittersRCV002824280

NM_201253.3(CRB1):c.585C>G (p.Cys195Trp)

SNV
Germline

Chr1:197328936

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Single Submitter

CA344081610

rs_2465032554

2 SubmittersRCV002828472 RCV004817124

NM_000350.3(ABCA4):c.1933G>T (p.Asp645Tyr)

SNV
Germline

Chr1:94062581

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA958397

rs_61749418

2 SubmittersRCV002792062 RCV005433265

NM_152419.3(HGSNAT):c.634-2A>G

SNV
Germline

Chr8:43170583

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA371116053

rs_2486962491

1 SubmittersRCV002815418

NM_001142800.2(EYS):c.3106G>T (p.Gly1036Ter)

SNV
Germline

Chr6:64822709

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364787543

rs_2533169075

2 SubmittersRCV002816257 RCV003464606

NM_001034853.2(RPGR):c.2482G>T (p.Glu828Ter)

SNV
Germline

ChrX:38286517

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Retinal dystrophy
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

CA412730538

rs_2519790541

3 SubmittersRCV002810681 RCV004817123 RCV005254135

NM_152419.3(HGSNAT):c.244C>T (p.Gln82Ter)

SNV
Germline

Chr8:43158584

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA371125042

rs_2486904791

1 SubmittersRCV002832951

NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)

SNV
Germline

Chr1:68431327

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA340742522

rs_1289316104

2 SubmittersRCV002829784 RCV005027984

NM_015662.3(IFT172):c.1555A>T (p.Lys519Ter)

SNV
Germline

Chr2:27471065

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346390529

rs_1375216897

1 SubmittersRCV002843687

NM_015662.3(IFT172):c.1693-1G>A

SNV
Germline

Chr2:27465883

Likely pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Single Submitter

CA346387630

rs_780210480

1 SubmittersRCV002856929

NM_015662.3(IFT172):c.336+2T>G

SNV
Germline

Chr2:27484225

Likely pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Single Submitter

CA346401738

rs_2466031050

1 SubmittersRCV002856113

NM_000329.3(RPE65):c.1243+1G>C

SNV
Germline

Chr1:68431470

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340742783

rs_1421696563

2 SubmittersRCV002862290 RCV004571369

NM_201253.3(CRB1):c.2806G>T (p.Gly936Ter)

SNV
Germline

Chr1:197429578

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344041268

rs_181410446

2 SubmittersRCV002833622 RCV003475431

NM_152419.3(HGSNAT):c.563+1G>C

SNV
Germline

Chr8:43161508

Likely pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371115875

rs_2486919501

1 SubmittersRCV002838585

NM_001379270.1(CNGA1):c.527G>A (p.Trp176Ter)

SNV
Germline

Chr4:47942059

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 49

Criteria Provided
Multiple Submitters
No Conflicts

CA2911264

rs_777235692

2 SubmittersRCV002839284 RCV005034443

NM_152419.3(HGSNAT):c.969C>A (p.Cys323Ter)

SNV
Germline

Chr8:43178191

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Retinal dystrophy

Criteria Provided
Single Submitter

CA371117323

rs_2487003212

2 SubmittersRCV002857521 RCV004817128

NM_201253.3(CRB1):c.1312T>A (p.Cys438Ser)

SNV
Germline

Chr1:197421140

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344030327

rs_2528104857

1 SubmittersRCV002858692

NM_201253.3(CRB1):c.975T>A (p.Cys325Ter)

SNV
Germline

Chr1:197347466

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344084251

rs_2527647145

1 SubmittersRCV002880916

NM_000329.3(RPE65):c.999-2A>G

SNV
Germline

Chr1:68438318

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340744503

rs_2523423130

1 SubmittersRCV002885100

NM_201253.3(CRB1):c.117C>A (p.Cys39Ter)

SNV
Germline

Chr1:197328468

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344085056

rs_2465024880

1 SubmittersRCV002853215

NM_206933.4(USH2A):c.15439C>T (p.Gln5147Ter)

SNV
Germline

Chr1:215628894

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344820801

rs_2464752503

2 SubmittersRCV002894102 RCV005008771

NM_206933.4(USH2A):c.3166C>T (p.Gln1056Ter)

SNV
Germline

Chr1:216207423

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344862628

rs_2035139741

2 SubmittersRCV002872027 RCV003465854

NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)

SNV
Germline

Chr1:197438650

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344050984

rs_1665279918

2 SubmittersRCV002862574 RCV003146645

NM_015662.3(IFT172):c.1412-1G>C

SNV
Germline

Chr2:27472363

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346391758

rs_1667637536

1 SubmittersRCV002866935

NM_015662.3(IFT172):c.482+1G>A

SNV
Germline

Chr2:27483579

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346400475

rs_2466025777

1 SubmittersRCV002866943

NM_152419.3(HGSNAT):c.494-2A>G

SNV
Germline

Chr8:43161436

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA371115723

rs_2486918870

2 SubmittersRCV002848255

NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)

SNV
Germline

Chr1:68444615

Pathogenic/Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340747879

rs_1422501788

2 SubmittersRCV002894779 RCV003465861

NM_001142800.2(EYS):c.862+2T>C

SNV
Germline

Chr6:65490592

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364788942

rs_1766002955

2 SubmittersRCV002872787 RCV004571799

NM_201253.3(CRB1):c.3532A>G (p.Ile1178Val)

SNV
Germline

Chr1:197435395

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1312349

rs_753093284

2 SubmittersRCV002908431 RCV004066095

NM_206933.4(USH2A):c.2691C>A (p.Cys897Ter)

SNV
Germline

Chr1:216246703

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344864245

rs_2528161583

2 SubmittersRCV002908609 RCV003464636

NM_014714.4(IFT140):c.2011C>T (p.Arg671Cys)

SNV
Germline

Chr16:1564053

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814047

rs_371561039

2 SubmittersRCV002900459 RCV005019452

NM_001142800.2(EYS):c.5734C>T (p.Gln1912Ter)

SNV
Germline

Chr6:64439263

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364392725

rs_2533226182

2 SubmittersRCV002885295 RCV003464627

NM_004183.4(BEST1):c.508C>T (p.Gln170Ter)

SNV
Germline

Chr11:61956870

Pathogenic/Likely pathogenic

Condition: not provided
Vitelliform macular dystrophy 2
Autosomal recessive bestrophinopathy
Retinitis pigmentosa 50
Autosomal dominant vitreoretinochoroidopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA6040768

rs_186544610

2 SubmittersRCV002899642 RCV005356210

NM_206933.4(USH2A):c.5566G>T (p.Glu1856Ter)

SNV
Germline

Chr1:216078095

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344855572

rs_2527791916

3 SubmittersRCV003464635 RCV002917610 RCV003889175

NM_014714.4(IFT140):c.2434G>A (p.Val812Met)

SNV
Germline

Chr16:1526762

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7813626

rs_569828117

3 SubmittersRCV002903619 RCV005010770 RCV005585258

NM_015662.3(IFT172):c.2233C>T (p.Gln745Ter)

SNV
Germline

Chr2:27461478

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346384696

rs_2465878804

1 SubmittersRCV002889930

NM_206933.4(USH2A):c.10939+2T>G

SNV
Germline

Chr1:215779841

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344832941

rs_1661573417

2 SubmittersRCV002907698 RCV005019428

NM_174878.3(CLRN1):c.528T>A (p.Tyr176Ter)

SNV
Germline

Chr3:150928107

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 61
Usher syndrome type 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA354953127

rs_121908140

2 SubmittersRCV002886253 RCV005034454

NM_031885.5(BBS2):c.243C>T (p.Gly81=)

SNV
Germline

Chr16:56514555

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Conflicting Classifications

CA8066091

rs_368760651

2 SubmittersRCV002917280 RCV005019442

NM_152419.3(HGSNAT):c.1614-1G>C

SNV
Germline

Chr8:43197839

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA371120600

rs_2487118434

1 SubmittersRCV002909353

NM_201253.3(CRB1):c.3935G>T (p.Cys1312Phe)

SNV
Germline

Chr1:197442222

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344052566

rs_1571572316

1 SubmittersRCV002942001

NM_201253.3(CRB1):c.2198A>G (p.Tyr733Cys)

SNV
Germline

Chr1:197427523

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312071

rs_779943125

2 SubmittersRCV002943592 RCV005254646

NM_014714.4(IFT140):c.2203G>A (p.Glu735Lys)

SNV
Germline

Chr16:1558131

Conflicting classifications of pathogenicity

Retinal dystrophy
Saldino-Mainzer syndrome
Inborn genetic diseases
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7813960

rs_774482510

4 SubmittersRCV003889189 RCV002949154 RCV004068090 RCV005019503

NM_001142800.2(EYS):c.1766+1G>A

SNV
Germline

Chr6:65334979

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364660900

rs_776204925

2 SubmittersRCV002971109 RCV003464643

NM_001378615.1(CC2D2A):c.1161C>T (p.Tyr387=)

SNV
Germline

Chr4:15527458

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA438382572

rs_1717568150

2 SubmittersRCV002974839 RCV005028066

NM_201253.3(CRB1):c.2842T>G (p.Cys948Gly)

SNV
Germline

Chr1:197429614

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344041408

rs_62645747

1 SubmittersRCV002943326

NM_201548.5(CERKL):c.678-1G>C

SNV
Germline

Chr2:181558709

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349741158

rs_1209393896

2 SubmittersRCV002971606 RCV004572482

NM_201253.3(CRB1):c.2087G>A (p.Cys696Tyr)

SNV
Germline

Chr1:197421915

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344034101

rs_2528114749

1 SubmittersRCV002949588

NM_003611.3(OFD1):c.2928+7G>A

SNV
Germline

ChrX:13768231

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA326115577

rs_912239987

2 SubmittersRCV003002712 RCV005045149

NM_014714.4(IFT140):c.2865-8G>T

SNV
Germline

Chr16:1524924

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA276680117

rs_894474570

2 SubmittersRCV003005166 RCV005010861

NM_206933.4(USH2A):c.9625G>T (p.Glu3209Ter)

SNV
Germline

Chr1:215813850

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344822029

rs_1662775446

2 SubmittersRCV002979370 RCV003465880

NM_000350.3(ABCA4):c.302+4A>G

SNV
Germline

Chr1:94111434

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

CA2580063336

rs_1662599697

2 SubmittersRCV002979411 RCV004796749

NM_206933.4(USH2A):c.6326-1G>T

SNV
Germline

Chr1:216000563

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344862014

rs_878853411

2 SubmittersRCV004572548 RCV003030790

NM_001201543.2(FAM161A):c.1642C>T (p.Gln548Ter)

SNV
Germline

Chr2:61838647

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 28

Criteria Provided
Multiple Submitters
No Conflicts

CA346986086

rs_777004968

2 SubmittersRCV003019128 RCV004572549

NM_006915.3(RP2):c.1A>T (p.Met1Leu)

SNV
Germline

ChrX:46837101

Pathogenic/Likely pathogenic

Retinitis pigmentosa 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413038133

rs_2147074594

2 SubmittersRCV005254661 RCV003006391

NM_001142800.2(EYS):c.1442G>A (p.Trp481Ter)

SNV
Germline

Chr6:65353475

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364661638

rs_2533202515

3 SubmittersRCV003016599 RCV005045160 RCV004817169

NM_001278293.3(ARL6):c.350-2A>C

SNV
Germline

Chr3:97787988

Likely pathogenic

ARL6-related disorder
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

CA353587873

rs_2529972867

2 SubmittersRCV004747178 RCV003022773

NM_001142800.2(EYS):c.7296T>A (p.Tyr2432Ter)

SNV
Germline

Chr6:63806305

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364387898

rs_1342009710

2 SubmittersRCV003014437 RCV003146731

NM_001297.5(CNGB1):c.1372+2T>C

SNV
Germline

Chr16:57939428

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA396072403

rs_1961602836

2 SubmittersRCV003020562 RCV005019556

NM_031885.5(BBS2):c.717+1G>T

SNV
Germline

Chr16:56506119

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395982868

rs_1047075022

2 SubmittersRCV005019559 RCV003018640

NM_015662.3(IFT172):c.2521+1G>A

SNV
Germline

Chr2:27461014

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346383428

rs_2148505406

1 SubmittersRCV003018642

NM_201253.3(CRB1):c.2833G>C (p.Gly945Arg)

SNV
Germline

Chr1:197429605

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344041381

rs_749746650

1 SubmittersRCV003018726

NM_201253.3(CRB1):c.1840G>C (p.Gly614Arg)

SNV
Germline

Chr1:197421668

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344032734

rs_2528111983

1 SubmittersRCV003023276

NM_006343.3(MERTK):c.912G>A (p.Trp304Ter)

SNV
Germline

Chr2:111968204

Pathogenic

Condition: not provided
Retinitis pigmentosa 38

Criteria Provided
Multiple Submitters
No Conflicts

CA1831224

rs_779211043

2 SubmittersRCV003032010 RCV005254670

NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr1:68449896

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902659

rs_748096417

3 SubmittersRCV003032078 RCV003465900 RCV003777039

NM_201253.3(CRB1):c.1181G>T (p.Cys394Phe)

SNV
Germline

Chr1:197421009

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344027999

rs_1664277152

1 SubmittersRCV003026335

NM_152419.3(HGSNAT):c.564-1G>A

SNV
Germline

Chr8:43169172

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA371115883

rs_1242842147

1 SubmittersRCV003029396

NM_001278293.3(ARL6):c.127C>T (p.Gln43Ter)

SNV
Germline

Chr3:97780162

Pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Single Submitter

CA2505865

rs_754763072

1 SubmittersRCV003032456

NM_001278293.3(ARL6):c.262C>T (p.Gln88Ter)

SNV
Germline

Chr3:97784962

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

CA353587022

rs_2529939726

1 SubmittersRCV003028654

NM_015662.3(IFT172):c.1412-2A>G

SNV
Germline

Chr2:27472364

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346391764

rs_1318391650

1 SubmittersRCV003026759

NM_206933.4(USH2A):c.2692C>T (p.Gln898Ter)

SNV
Germline

Chr1:216246702

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344864241

rs_1183969284

2 SubmittersRCV003029090 RCV003465899

NM_001034853.2(RPGR):c.620-2A>G

SNV
Germline

ChrX:38310775

Likely pathogenic

Primary ciliary dyskinesia
X-linked cone-rod dystrophy 1
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Macular degeneration, X-linked atrophic
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10385611

rs_138313492

2 SubmittersRCV003032124 RCV005050696

NM_001378615.1(CC2D2A):c.2625+9C>G

SNV
Germline

Chr4:15555219

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA549892424

rs_1167453314

2 SubmittersRCV003054350 RCV005028127

NM_015662.3(IFT172):c.3111+1G>T

SNV
Germline

Chr2:27457840

Likely pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1580086

rs_759612790

2 SubmittersRCV003049449 RCV004725479

NM_015662.3(IFT172):c.4914+1G>A

SNV
Germline

Chr2:27445744

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Multiple Submitters
No Conflicts

CA346414258

rs_1436511287

2 SubmittersRCV003049497 RCV005028132

NM_206933.4(USH2A):c.14968+1G>C

SNV
Germline

Chr1:215640557

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344827556

rs_2464788700

2 SubmittersRCV003057724 RCV003459717

NM_001142800.2(EYS):c.1356C>G (p.Tyr452Ter)

SNV
Germline

Chr6:65353561

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364661829

rs_1453136762

2 SubmittersRCV003033260 RCV003459710

NM_206933.4(USH2A):c.1173T>A (p.Ser391Arg)

SNV
Germline

Chr1:216324323

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396581

rs_529153604

2 SubmittersRCV003024377 RCV005235679

NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter)

SNV
Germline

Chr1:68431351

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340742621

rs_1355323529

1 SubmittersRCV003059569

NM_206933.4(USH2A):c.14583-1G>T

SNV
Germline

Chr1:215647731

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344832342

rs_1417934743

4 SubmittersRCV003056436 RCV003445198 RCV005019585

NM_152419.3(HGSNAT):c.634G>T (p.Glu212Ter)

SNV
Germline

Chr8:43170585

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA371116059

rs_2130745641

1 SubmittersRCV003044731

NM_001034853.2(RPGR):c.778+1G>A

SNV
Germline

ChrX:38310614

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

CA412742451

rs_2519865384

2 SubmittersRCV003050167 RCV005250269

NM_201253.3(CRB1):c.716G>A (p.Cys239Tyr)

SNV
Germline

Chr1:197344344

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344083242

rs_771079655

1 SubmittersRCV003050338

NM_201253.3(CRB1):c.2129-2A>C

SNV
Germline

Chr1:197427452

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344036257

rs_2125483466

1 SubmittersRCV003040565

NM_015662.3(IFT172):c.4966C>T (p.Gln1656Ter)

SNV
Germline

Chr2:27445398

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346413918

rs_1664975368

1 SubmittersRCV003052437

NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp)

SNV
Germline

ChrX:13767174

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Joubert syndrome
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10352059

rs_149790559

3 SubmittersRCV004081054 RCV003777590 RCV005045378

NM_015662.3(IFT172):c.2976-2A>T

SNV
Germline

Chr2:27457978

Likely pathogenic

Inborn genetic diseases
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Multiple Submitters
No Conflicts

CA346380931

rs_1666303205

2 SubmittersRCV002891269 RCV005021713

NM_020843.4(SCAPER):c.3431A>G (p.His1144Arg)

SNV
Germline

Chr15:76404560

Conflicting classifications of pathogenicity

Inborn genetic diseases
SCAPER-related disorder
Intellectual developmental disorder and retinitis pigmentosa
IDDRP
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7674437

rs_137972092

4 SubmittersRCV002768687 RCV004754959 RCV004725628 RCV004818281

NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)

SNV
Germline

Chr1:215965390

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344852159

rs_2527554353

3 SubmittersRCV002789978 RCV003466008 RCV004818284

NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)

SNV
Germline

Chr1:68446836

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340749254

rs_2523452284

2 SubmittersRCV003133792 RCV003778716

NM_014285.7(EXOSC2):c.611G>A (p.Trp204Ter)

SNV
Unknown

Chr9:130702249

Likely pathogenic

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Criteria Provided
Single Submitter

CA375248035

rs_2490800900

1 SubmittersRCV003148478

NM_001379270.1(CNGA1):c.610G>A (p.Asp204Asn)

SNV
Germline

Chr4:47940805

Pathogenic

Retinitis pigmentosa 49

No Assertion Criteria Provided

CA356830862

rs_2475768752

1 SubmittersRCV003152546

NM_001386393.1(PANK2):c.1258G>A (p.Ala420Thr)

SNV
Germline

Chr20:3918722

Pathogenic

Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

No Assertion Criteria Provided

CA9750931

rs_558481390

1 SubmittersRCV003152655

NM_014714.4(IFT140):c.1246C>T (p.Gln416Ter)

SNV
Germline

Chr16:1584330

Pathogenic

Retinitis pigmentosa 80
IFT140-related disorder

Criteria Provided
Single Submitter

CA7814391

rs_554927827

2 SubmittersRCV003152928 RCV004731512

NM_033100.4(CDHR1):c.1168-1G>A

SNV
Germline

Chr10:84208728

Pathogenic

Retinitis pigmentosa 65

No Assertion Criteria Provided

CA377375282

rs_1395276529

1 SubmittersRCV003159257

NM_016026.4(RDH11):c.749G>A (p.Trp250Ter)

SNV
Germline

Chr14:67685120

Likely pathogenic

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Criteria Provided
Single Submitter

CA390131124

rs_1470605735

1 SubmittersRCV003159286

NM_015629.4(PRPF31):c.1074-1G>C

SNV
Unknown

Chr19:54128304

Likely pathogenic

Retinitis pigmentosa 11

Criteria Provided
Single Submitter

CA407753572

rs_1343138103

1 SubmittersRCV003224916

NM_206933.4(USH2A):c.12698G>A (p.Trp4233Ter)

SNV
Unknown

Chr1:215675213

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344849791

rs_2464899060

1 SubmittersRCV003224961

NM_003322.6(TULP1):c.1113-1G>T

SNV
Germline

Chr6:35503849

Likely pathogenic

Retinitis pigmentosa 14

Criteria Provided
Single Submitter

CA363779475

rs_778756586

1 SubmittersRCV003226038

NM_000326.5(RLBP1):c.451C>T (p.Arg151Trp)

SNV
Germline

Chr15:89215134

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA393729839

rs_764825249

2 SubmittersRCV003226663 RCV003561246

NM_000329.3(RPE65):c.644-2A>G

SNV
Germline

Chr1:68439644

Likely pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340746084

rs_61752891

3 SubmittersRCV003226664 RCV003466042 RCV003779809

NM_201548.5(CERKL):c.1366-2A>G

SNV
Germline

Chr2:181539266

Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349733514

rs_1378520293

2 SubmittersRCV003226694 RCV003475546

NM_000539.3(RHO):c.888G>T (p.Lys296Asn)

SNV
Germline

Chr3:129532724

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA354470802

rs_2084793009

2 SubmittersRCV003228228 RCV005254753

NM_201253.3(CRB1):c.3017C>A (p.Ser1006Tyr)

SNV
Germline

Chr1:197434880

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344044595

rs_878853367

2 SubmittersRCV003228863 RCV003475547

NM_206933.4(USH2A):c.784+14389G>T

SNV
Germline

Chr1:216350564

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA37903437

rs_146773511

4 SubmittersRCV003231057 RCV005242382 RCV005240731 RCV005356382

NM_001142800.2(EYS):c.5098A>T (p.Lys1700Ter)

SNV
Germline

Chr6:64590769

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA364781857

rs_2533150852

1 SubmittersRCV003234982

NM_001379270.1(CNGA1):c.1079G>A (p.Gly360Asp)

SNV
Germline

Chr4:47937403

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 49

Criteria Provided
Conflicting Classifications

CA96689021

rs_965734036

2 SubmittersRCV004794634 RCV003314304

NM_201253.3(CRB1):c.1459T>C (p.Ser487Pro)

SNV
Germline

Chr1:197421287

Likely pathogenic

Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344031000

rs_1664298414

2 SubmittersRCV003314447 RCV004794635

NM_005869.4(CWC27):c.669+1G>A

SNV
Germline

Chr5:64789021

Pathogenic

Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

Criteria Provided
Single Submitter

CA359847808

rs_1409955425

1 SubmittersRCV003492865

NM_000329.3(RPE65):c.1088C>T (p.Pro363Leu)

SNV
Germline

Chr1:68438227

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Conflicting Classifications

CA340744119

rs_1158240863

2 SubmittersRCV003324349 RCV005029982

NM_001142800.2(EYS):c.4100C>A (p.Ser1367Ter)

SNV
Germline

Chr6:64591767

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA364784043

rs_773888841

1 SubmittersRCV003324695

NM_001142800.2(EYS):c.7228G>A (p.Ala2410Thr)

SNV
Germline

Chr6:63864186

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA364386115

rs_915505702

1 SubmittersRCV003324697

NM_006343.3(MERTK):c.2209G>T (p.Val737Phe)

SNV
Germline

Chr2:112021441

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA348238748

rs_142721656

1 SubmittersRCV003324701

NM_001386393.1(PANK2):c.1129G>A (p.Glu377Lys)

SNV
Germline

Chr20:3916973

Pathogenic

Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

Criteria Provided
Single Submitter

CA408119323

rs_2515522322

1 SubmittersRCV003326731

NM_000539.3(RHO):c.400G>A (p.Glu134Lys)

SNV
Unknown

Chr3:129530914

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

CA2607151

rs_766196737

1 SubmittersRCV003389582

NM_000539.3(RHO):c.489G>A (p.Met163Ile)

SNV
Unknown

Chr3:129531003

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

CA2607172

rs_556019320

1 SubmittersRCV003389585

NM_206933.4(USH2A):c.1106T>A (p.Val369Glu)

SNV
Unknown

Chr1:216325342

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344912242

rs_2527439727

1 SubmittersRCV003389586

NM_001379270.1(CNGA1):c.1448T>G (p.Leu483Arg)

SNV
Germline

Chr4:47937034

Likely pathogenic

Retinitis pigmentosa 49

Criteria Provided
Single Submitter

CA356825712

rs_2475748633

1 SubmittersRCV003389598

NM_000883.4(IMPDH1):c.1417T>C (p.Ser473Pro)

SNV
Unknown

Chr7:128395022

Likely pathogenic

Retinitis pigmentosa 10

Criteria Provided
Single Submitter

CA369163237

rs_2116601689

1 SubmittersRCV003389600

NM_206933.4(USH2A):c.13654T>C (p.Trp4552Arg)

SNV
Germline

Chr1:215674257

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344844057

rs_2464894173

1 SubmittersRCV003389613

NM_000539.3(RHO):c.329G>T (p.Cys110Phe)

SNV
Germline

Chr3:129529062

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA354496917

rs_104893787

2 SubmittersRCV003553893 RCV003389621

NM_000283.4(PDE6B):c.293G>C (p.Arg98Pro)

SNV
Germline

Chr4:625919

Likely pathogenic

Retinitis pigmentosa 40

Criteria Provided
Single Submitter

CA355906708

rs_776050413

1 SubmittersRCV003397223

NM_014714.4(IFT140):c.1648C>T (p.Arg550Ter)

SNV
Germline

Chr16:1571411

Pathogenic

IFT140-related disorder
Renal cyst
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA394208895

rs_1253188873

5 SubmittersRCV003408686 RCV004786937 RCV004723302 RCV005406679

NM_015662.3(IFT172):c.723G>T (p.Arg241=)

SNV
Germline

Chr2:27481108

Conflicting classifications of pathogenicity

IFT172-related disorder
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1580888

rs_745698076

2 SubmittersRCV004552425 RCV005216086

NM_205861.3(DHDDS):c.191G>A (p.Trp64Ter)

SNV
Germline

Chr1:26442741

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 59

Criteria Provided
Conflicting Classifications

CA339140082

rs_756507508

2 SubmittersRCV003412947 RCV003525406

NM_206933.4(USH2A):c.4628-2A>T

SNV
Germline

Chr1:216097215

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344861485

rs_2032462132

3 SubmittersRCV003442367 RCV003459863

NM_000350.3(ABCA4):c.6386+4A>G

SNV
Germline

Chr1:94000998

Likely pathogenic

Retinitis pigmentosa 19

No Assertion Criteria Provided

CA2695198061

rs_2523624439

1 SubmittersRCV003447454

NM_000350.3(ABCA4):c.2261T>C (p.Phe754Ser)

SNV
Germline

Chr1:94056722

Pathogenic

Retinitis pigmentosa 19
Condition: not provided

Criteria Provided
Single Submitter

CA341277903

rs_2523822075

2 SubmittersRCV003445395 RCV003553939

NM_000350.3(ABCA4):c.2424C>G (p.Tyr808Ter)

SNV
Germline

Chr1:94055274

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA341277115

rs_1660944269

3 SubmittersRCV003445397 RCV003553940 RCV005036807

NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)

SNV
Germline

ChrX:38285761

Likely pathogenic

Macular degeneration, X-linked atrophic
X-linked cone-rod dystrophy 1
Retinitis pigmentosa 3
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness

Criteria Provided
Single Submitter

CA412727578

rs_2519780631

1 SubmittersRCV003447702

NM_205861.3(DHDDS):c.698C>G (p.Pro233Arg)

SNV
Germline

Chr1:26460077

Pathogenic

Developmental delay and seizures with or without movement abnormalities
Retinitis pigmentosa 59

Criteria Provided
Multiple Submitters
No Conflicts

CA339145149

rs_2524708025

2 SubmittersRCV003448533 RCV003525415

NM_031885.5(BBS2):c.940+1G>A

SNV
Germline

Chr16:56502672

Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA395981014

rs_2543713728

2 SubmittersRCV003465053 RCV005021985

NM_205861.3(DHDDS):c.705T>A (p.Tyr235Ter)

SNV
Unknown

Chr1:26460084

Likely pathogenic

Retinitis pigmentosa 59

Criteria Provided
Single Submitter

CA339145175

rs_1298424547

1 SubmittersRCV003466162

NM_205861.3(DHDDS):c.568A>T (p.Lys190Ter)

SNV
Unknown

Chr1:26457816

Likely pathogenic

Retinitis pigmentosa 59

Criteria Provided
Single Submitter

CA339144598

rs_2524685601

1 SubmittersRCV003459959

NM_017739.4(POMGNT1):c.1398G>A (p.Trp466Ter)

SNV
Germline

Chr1:46192323

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340174854

rs_2525386608

2 SubmittersRCV003463349 RCV005030046

NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)

SNV
Germline

Chr1:46196789

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340191646

rs_2525462732

2 SubmittersRCV003463350 RCV005021981

NM_017739.4(POMGNT1):c.1650-2A>G

SNV
Germline

Chr1:46189991

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340171671

rs_2525345840

2 SubmittersRCV003463354 RCV005030047

NM_206933.4(USH2A):c.12446G>A (p.Trp4149Ter)

SNV
Unknown

Chr1:215675465

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344850881

rs_1475696927

1 SubmittersRCV003466499

NM_206933.4(USH2A):c.8559-1G>C

SNV
Unknown

Chr1:215877881

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344830008

rs_1664816177

1 SubmittersRCV003464782

NM_206933.4(USH2A):c.89T>A (p.Leu30Ter)

SNV
Unknown

Chr1:216422248

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344905045

rs_2527655487

1 SubmittersRCV003464783

NM_206933.4(USH2A):c.9249T>A (p.Tyr3083Ter)

SNV
Germline

Chr1:215844303

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344838471

rs_2464605797

2 SubmittersRCV003466501 RCV003575107

NM_206933.4(USH2A):c.7037A>G (p.His2346Arg)

SNV
Germline

Chr1:215965400

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1394964

rs_776390437

3 SubmittersRCV003466502 RCV005012975 RCV005412555

NM_206933.4(USH2A):c.811C>T (p.Gln271Ter)

SNV
Unknown

Chr1:216327628

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344912876

rs_2037761675

1 SubmittersRCV003464786

NM_206933.4(USH2A):c.6325+2T>G

SNV
Unknown

Chr1:216046429

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344858596

rs_1458440347

1 SubmittersRCV003464787

NM_206933.4(USH2A):c.14802C>G (p.Tyr4934Ter)

SNV
Unknown

Chr1:215640724

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344828586

rs_2464789623

1 SubmittersRCV003464788

NM_206933.4(USH2A):c.11884G>T (p.Glu3962Ter)

SNV
Unknown

Chr1:215728212

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344828791

rs_1571626731

1 SubmittersRCV003464790

NM_206933.4(USH2A):c.5168G>A (p.Gly1723Glu)

SNV
Unknown

Chr1:216083586

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344858331

rs_2527805483

1 SubmittersRCV003464792

NM_206933.4(USH2A):c.12987T>A (p.Tyr4329Ter)

SNV
Unknown

Chr1:215674924

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344847941

rs_1203365063

1 SubmittersRCV003464798

NM_206933.4(USH2A):c.4945G>T (p.Gly1649Ter)

SNV
Unknown

Chr1:216086761

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344859781

rs_2527813410

1 SubmittersRCV003464800

NM_206933.4(USH2A):c.6084T>A (p.Tyr2028Ter)

SNV
Unknown

Chr1:216048613

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344859659

rs_2527725724

1 SubmittersRCV003464801

NM_206933.4(USH2A):c.850G>T (p.Glu284Ter)

SNV
Unknown

Chr1:216325598

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344912781

rs_763780083

1 SubmittersRCV003466504

NM_206933.4(USH2A):c.2440C>T (p.Gln814Ter)

SNV
Unknown

Chr1:216246954

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344864796

rs_1433783445

1 SubmittersRCV003464805

NM_206933.4(USH2A):c.8223+1G>T

SNV
Unknown

Chr1:215888425

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344838302

rs_1553273280

1 SubmittersRCV003464807

NM_206933.4(USH2A):c.10643C>A (p.Ser3548Ter)

SNV
Unknown

Chr1:215782139

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344836813

rs_778196484

1 SubmittersRCV003464808

NM_206933.4(USH2A):c.14802C>A (p.Tyr4934Ter)

SNV
Germline

Chr1:215640724

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344828588

rs_2464789623

2 SubmittersRCV003464809 RCV005100241

NM_206933.4(USH2A):c.6520G>T (p.Glu2174Ter)

SNV
Germline

Chr1:215999024

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344861448

rs_2527619261

3 SubmittersRCV003464811 RCV003689101 RCV005012976

NM_206933.4(USH2A):c.6269T>G (p.Leu2090Ter)

SNV
Unknown

Chr1:216046487

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344858799

rs_2527720294

1 SubmittersRCV003464813

NM_206933.4(USH2A):c.1190T>A (p.Ile397Lys)

SNV
Germline

Chr1:216324306

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344911963

rs_2037684112

2 SubmittersRCV003466505

NM_206933.4(USH2A):c.6193A>T (p.Lys2065Ter)

SNV
Unknown

Chr1:216046563

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344859120

rs_2527720554

1 SubmittersRCV003466506

NM_206933.4(USH2A):c.9911T>G (p.Leu3304Ter)

SNV
Unknown

Chr1:215798954

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344848536

rs_2464454319

1 SubmittersRCV003464814

NM_206933.4(USH2A):c.1823G>A (p.Cys608Tyr)

SNV
Unknown

Chr1:216292192

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344903023

rs_1475577009

1 SubmittersRCV003464817

NM_206933.4(USH2A):c.14792-1G>T

SNV
Unknown

Chr1:215640735

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344828672

rs_2464789668

1 SubmittersRCV003464818

NM_206933.4(USH2A):c.13543C>T (p.Gln4515Ter)

SNV
Unknown

Chr1:215674368

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344844704

rs_2464894738

1 SubmittersRCV003464819

NM_206933.4(USH2A):c.13301C>G (p.Ser4434Ter)

SNV
Unknown

Chr1:215674610

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344845800

rs_2464896029

1 SubmittersRCV003464820

NM_206933.4(USH2A):c.3932C>A (p.Ser1311Ter)

SNV
Unknown

Chr1:216198464

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA1395870

rs_79279902

1 SubmittersRCV003466509

NM_206933.4(USH2A):c.10953C>G (p.Tyr3651Ter)

SNV
Unknown

Chr1:215766775

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344827406

rs_777733968

1 SubmittersRCV003474206

NM_206933.4(USH2A):c.14586T>G (p.Tyr4862Ter)

SNV
Unknown

Chr1:215647727

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344832321

rs_2464812451

1 SubmittersRCV003474207

NM_206933.4(USH2A):c.2647G>T (p.Glu883Ter)

SNV
Unknown

Chr1:216246747

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344864347

rs_2528161739

1 SubmittersRCV003474208

NM_206933.4(USH2A):c.11232-2A>G

SNV
Germline

Chr1:215758754

Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344821416

rs_2465089350

2 SubmittersRCV003474210 RCV003779137

NM_206933.4(USH2A):c.9723C>A (p.Tyr3241Ter)

SNV
Unknown

Chr1:215813752

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344821413

rs_6660707

1 SubmittersRCV003474212

NM_206933.4(USH2A):c.5781C>G (p.Tyr1927Ter)

SNV
Germline

Chr1:216072965

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344853923

rs_760845108

2 SubmittersRCV003474216 RCV003565685

NM_206933.4(USH2A):c.7843C>T (p.Gln2615Ter)

SNV
Unknown

Chr1:215888806

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344839721

rs_2464750058

1 SubmittersRCV003474217

NM_206933.4(USH2A):c.14133+1G>A

SNV
Unknown

Chr1:215670971

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344839933

rs_2464880278

1 SubmittersRCV003474219

NM_206933.4(USH2A):c.15053-2A>G

SNV
Unknown

Chr1:215634705

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344825022

rs_1052194170

1 SubmittersRCV003474225

NM_206933.4(USH2A):c.13856C>G (p.Ser4619Ter)

SNV
Unknown

Chr1:215671249

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344841820

rs_2464881435

1 SubmittersRCV003474226

NM_206933.4(USH2A):c.4396+1G>A

SNV
Unknown

Chr1:216190222

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344865034

rs_2034687450

1 SubmittersRCV003474227

NM_206933.4(USH2A):c.8500G>T (p.Glu2834Ter)

SNV
Unknown

Chr1:215878822

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344830487

rs_2464716463

1 SubmittersRCV003474228

NM_206933.4(USH2A):c.4585A>T (p.Lys1529Ter)

SNV
Unknown

Chr1:216175294

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344863586

rs_2527987206

1 SubmittersRCV003474229

NM_206933.4(USH2A):c.652-1G>A

SNV
Unknown

Chr1:216365086

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344908861

rs_2527531679

1 SubmittersRCV003474232

NM_206933.4(USH2A):c.3811+2T>A

SNV
Unknown

Chr1:216199625

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344867627

rs_2528045041

1 SubmittersRCV003466512

NM_206933.4(USH2A):c.6569G>A (p.Trp2190Ter)

SNV
Unknown

Chr1:215998975

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344861224

rs_1195543019

1 SubmittersRCV003466514

NM_206933.4(USH2A):c.2989G>T (p.Gly997Ter)

SNV
Unknown

Chr1:216231957

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344863054

rs_397518009

1 SubmittersRCV003464825

NM_206933.4(USH2A):c.3811+1G>T

SNV
Germline

Chr1:216199626

Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344867628

rs_2034934856

2 SubmittersRCV003464827 RCV003699114

NM_206933.4(USH2A):c.6657+2T>C

SNV
Germline

Chr1:215998885

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344860868

rs_2102481774

3 SubmittersRCV003464828 RCV004818350 RCV005012977

NM_206933.4(USH2A):c.9120G>A (p.Trp3040Ter)

SNV
Germline

Chr1:215844432

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344838988

rs_1188663543

2 SubmittersRCV003466518 RCV005012978

NM_206933.4(USH2A):c.3811+1G>A

SNV
Unknown

Chr1:216199626

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344867630

rs_2034934856

1 SubmittersRCV003466520

NM_206933.4(USH2A):c.9846T>A (p.Cys3282Ter)

SNV
Unknown

Chr1:215799019

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344849206

rs_2464454827

1 SubmittersRCV003466521

NM_206933.4(USH2A):c.3222G>A (p.Trp1074Ter)

SNV
Unknown

Chr1:216207367

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344862518

rs_2528065508

1 SubmittersRCV003466522

NM_206933.4(USH2A):c.4225C>T (p.Gln1409Ter)

SNV
Unknown

Chr1:216196579

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344866180

rs_2528035375

1 SubmittersRCV003464833

NM_206933.4(USH2A):c.13189G>T (p.Glu4397Ter)

SNV
Unknown

Chr1:215674722

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344846238

rs_2464896591

1 SubmittersRCV003464837

NM_206933.4(USH2A):c.8906C>G (p.Ser2969Ter)

SNV
Germline

Chr1:215845973

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344841754

rs_2464611968

2 SubmittersRCV003464839

NM_206933.4(USH2A):c.633G>A (p.Trp211Ter)

SNV
Unknown

Chr1:216418532

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344902190

rs_2102783738

1 SubmittersRCV003466526

NM_206933.4(USH2A):c.1062G>A (p.Trp354Ter)

SNV
Unknown

Chr1:216325386

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344912341

rs_2527439836

1 SubmittersRCV003464843

NM_206933.4(USH2A):c.3266T>A (p.Leu1089Ter)

SNV
Unknown

Chr1:216207323

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344862418

rs_2528065309

1 SubmittersRCV003466529

NM_206933.4(USH2A):c.6657+1G>T

SNV
Unknown

Chr1:215998886

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344860870

rs_1571876788

1 SubmittersRCV003464845

NM_206933.4(USH2A):c.15298-2A>C

SNV
Unknown

Chr1:215629037

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344821646

rs_2464753342

1 SubmittersRCV003464846

NM_206933.4(USH2A):c.9258+2T>C

SNV
Unknown

Chr1:215844292

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344838398

rs_1396769996

1 SubmittersRCV003464849

NM_206933.4(USH2A):c.7018C>T (p.Gln2340Ter)

SNV
Unknown

Chr1:215965419

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344852342

rs_2527554452

1 SubmittersRCV003466531

NM_206933.4(USH2A):c.3523C>T (p.Gln1175Ter)

SNV
Unknown

Chr1:216199915

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344868293

rs_2528046543

1 SubmittersRCV003466532

NM_206933.4(USH2A):c.13515T>A (p.Tyr4505Ter)

SNV
Unknown

Chr1:215674396

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344844907

rs_2464894863

1 SubmittersRCV003464851

NM_206933.4(USH2A):c.11556T>A (p.Cys3852Ter)

SNV
Germline

Chr1:215741530

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344834011

rs_2465067786

2 SubmittersRCV003466533 RCV003732598

NM_206933.4(USH2A):c.7594+1G>A

SNV
Germline

Chr1:215900074

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344846871

rs_1558151466

3 SubmittersRCV003464855 RCV005012979 RCV004587499

NM_206933.4(USH2A):c.11533C>T (p.Gln3845Ter)

SNV
Germline

Chr1:215743192

Pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344834566

rs_2465069905

2 SubmittersRCV003464857 RCV003553976

NM_206933.4(USH2A):c.3828T>A (p.Tyr1276Ter)

SNV
Unknown

Chr1:216198568

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344867383

rs_2034908815

1 SubmittersRCV003466535

NM_014249.4(NR2E3):c.119-2A>T

SNV
Germline

Chr15:71811481

Pathogenic/Likely pathogenic

Enhanced S-cone syndrome
Enhanced S-cone syndrome
Retinitis pigmentosa 37

Criteria Provided
Multiple Submitters
No Conflicts

CA393031926

rs_2723341

2 SubmittersRCV003471609 RCV005003643

NM_144596.4(TTC8):c.214G>T (p.Glu72Ter)

SNV
Unknown

Chr14:88839521

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

CA390572769

rs_757429317

1 SubmittersRCV003464733

NM_144596.4(TTC8):c.1348-1G>A

SNV
Unknown

Chr14:88875025

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

CA390553820

rs_1329552995

1 SubmittersRCV003464735

NM_144596.4(TTC8):c.1224+1G>C

SNV
Unknown

Chr14:88871724

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

CA390552531

rs_1352390503

1 SubmittersRCV003464736

NM_144596.4(TTC8):c.949G>T (p.Glu317Ter)

SNV
Unknown

Chr14:88870098

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

CA390549426

rs_1014022

1 SubmittersRCV003464739

NM_144596.4(TTC8):c.94G>T (p.Glu32Ter)

SNV
Unknown

Chr14:88824801

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

CA264573982

rs_993279874

1 SubmittersRCV003466481

NM_174878.3(CLRN1):c.95T>A (p.Leu32Ter)

SNV
Germline

Chr3:150972614

Pathogenic/Likely pathogenic

Retinitis pigmentosa 61
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA355012065

rs_2472831349

2 SubmittersRCV003468480 RCV003661066

NM_174878.3(CLRN1):c.271A>T (p.Lys91Ter)

SNV
Unknown

Chr3:150941744

Likely pathogenic

Retinitis pigmentosa 61

Criteria Provided
Single Submitter

CA354956125

rs_1414632605

1 SubmittersRCV003468484

NM_174878.3(CLRN1):c.555T>A (p.Tyr185Ter)

SNV
Germline

Chr3:150928080

Pathogenic/Likely pathogenic

Retinitis pigmentosa 61
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354953064

rs_2472761635

2 SubmittersRCV003468486 RCV003689104

NM_174878.3(CLRN1):c.433+1G>T

SNV
Germline

Chr3:150941581

Likely pathogenic

Retinitis pigmentosa 61
Usher syndrome type 3

Criteria Provided
Single Submitter

CA354955247

rs_201205811

2 SubmittersRCV003468488 RCV005616648

NM_174878.3(CLRN1):c.496G>T (p.Glu166Ter)

SNV
Unknown

Chr3:150928139

Likely pathogenic

Retinitis pigmentosa 61

Criteria Provided
Single Submitter

CA354953227

rs_2472761786

1 SubmittersRCV003468490

NM_201253.3(CRB1):c.2172T>A (p.Tyr724Ter)

SNV
Germline

Chr1:197427497

Pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344036465

rs_752824817

2 SubmittersRCV003475747 RCV003779164

NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)

SNV
Germline

Chr1:197328975

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344081701

rs_1658697788

3 SubmittersRCV003475761 RCV003779166

NM_201253.3(CRB1):c.3157A>G (p.Met1053Val)

SNV
Germline

Chr1:197435020

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312284

rs_763369093

2 SubmittersRCV003475771 RCV005220724

NM_201253.3(CRB1):c.1003C>T (p.Gln335Ter)

SNV
Germline

Chr1:197356845

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344084324

rs_2527715135

2 SubmittersRCV003475786 RCV005220725

NM_001142800.2(EYS):c.3298G>T (p.Gly1100Ter)

SNV
Germline

Chr6:64813523

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364786985

rs_752024576

2 SubmittersRCV003460055 RCV003738467

NM_001142800.2(EYS):c.95G>A (p.Trp32Ter)

SNV
Germline

Chr6:65495316

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364790666

rs_2533030462

2 SubmittersRCV003468007 RCV005100152

NM_001142800.2(EYS):c.9301C>T (p.Gln3101Ter)

SNV
Germline

Chr6:63720730

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364382796

rs_1768344207

2 SubmittersRCV003468008 RCV003679215

NM_001142800.2(EYS):c.5928-1G>A

SNV
Unknown

Chr6:64388841

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364392261

rs_2533088753

1 SubmittersRCV003468011

NM_001142800.2(EYS):c.6834+2T>C

SNV
Germline

Chr6:63999073

Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364389424

rs_2533373634

2 SubmittersRCV003468012 RCV003699106

NM_001142800.2(EYS):c.4523T>G (p.Leu1508Ter)

SNV
Germline

Chr6:64591344

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364783136

rs_2149832043

2 SubmittersRCV003468013 RCV003779015

NM_001142800.2(EYS):c.1338G>A (p.Trp446Ter)

SNV
Germline

Chr6:65353579

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364661873

rs_1280273701

2 SubmittersRCV003468015 RCV005100153

NM_001142800.2(EYS):c.6725+1G>T

SNV
Unknown

Chr6:64066337

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364389374

rs_779055763

1 SubmittersRCV003468016

NM_001142800.2(EYS):c.9013G>T (p.Glu3005Ter)

SNV
Unknown

Chr6:63721018

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364383456

rs_1768361715

1 SubmittersRCV003468017

NM_001142800.2(EYS):c.927C>A (p.Cys309Ter)

SNV
Unknown

Chr6:65405303

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364662828

rs_2533377251

1 SubmittersRCV003468018

NM_001142800.2(EYS):c.2847-2A>G

SNV
Unknown

Chr6:64886844

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364788932

rs_1230668487

1 SubmittersRCV003468019

NM_001142800.2(EYS):c.7126G>T (p.Glu2376Ter)

SNV
Unknown

Chr6:63864288

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364386541

rs_1772618415

1 SubmittersRCV003468021

NM_001142800.2(EYS):c.2847-1G>T

SNV
Germline

Chr6:64886843

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364788928

rs_1368916345

2 SubmittersRCV003468022 RCV003553952

NM_001142800.2(EYS):c.1600-1G>T

SNV
Unknown

Chr6:65335147

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364661275

rs_1281424301

1 SubmittersRCV003460063

NM_001142800.2(EYS):c.2716G>T (p.Glu906Ter)

SNV
Unknown

Chr6:64902426

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364785863

rs_1767697739

1 SubmittersRCV003468023

NM_001142800.2(EYS):c.1184+1G>T

SNV
Unknown

Chr6:65402477

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364662242

rs_2150363733

1 SubmittersRCV003468024

NM_001142800.2(EYS):c.5645-1G>A

SNV
Germline

Chr6:64439353

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364392928

rs_2533226563

2 SubmittersRCV003549099 RCV003460065

NM_001142800.2(EYS):c.8072-2A>G

SNV
Germline

Chr6:63726682

Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364386521

rs_2533413297

2 SubmittersRCV003468026 RCV003679216

NM_001142800.2(EYS):c.4717C>T (p.Gln1573Ter)

SNV
Unknown

Chr6:64591150

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364782698

rs_750799861

1 SubmittersRCV003460066

NM_001142800.2(EYS):c.6192-1G>A

SNV
Germline

Chr6:64230825

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364391646

rs_570020451

3 SubmittersRCV003779019 RCV003460068

NM_001142800.2(EYS):c.2138-2A>G

SNV
Unknown

Chr6:64997705

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA3877313

rs_769386722

1 SubmittersRCV003468028

NM_001142800.2(EYS):c.7921A>T (p.Lys2641Ter)

SNV
Germline

Chr6:63762611

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364390325

rs_2533487026

2 SubmittersRCV003460073 RCV005100154

NM_001142800.2(EYS):c.1711C>T (p.Gln571Ter)

SNV
Unknown

Chr6:65335035

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA3877637

rs_765886997

1 SubmittersRCV003460074

NM_001142800.2(EYS):c.253G>T (p.Gly85Ter)

SNV
Unknown

Chr6:65495158

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364790309

rs_1582376797

1 SubmittersRCV003460075

NM_001142800.2(EYS):c.2382-1G>A

SNV
Unknown

Chr6:64912744

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364786653

rs_2533384442

1 SubmittersRCV003468031

NM_001142800.2(EYS):c.251T>G (p.Leu84Ter)

SNV
Unknown

Chr6:65495160

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364790314

rs_2533029550

1 SubmittersRCV003468033

NM_001142800.2(EYS):c.6078+1G>A

SNV
Unknown

Chr6:64388689

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364391940

rs_1182705193

1 SubmittersRCV003460079

NM_001142800.2(EYS):c.6138G>A (p.Trp2046Ter)

SNV
Germline

Chr6:64307023

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364391785

rs_2534135621

2 SubmittersRCV003468034

NM_001142800.2(EYS):c.117T>A (p.Tyr39Ter)

SNV
Unknown

Chr6:65495294

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364790617

rs_2533030270

1 SubmittersRCV003468037

NM_001142800.2(EYS):c.7017T>A (p.Cys2339Ter)

SNV
Unknown

Chr6:63984421

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364388011

rs_1767255532

1 SubmittersRCV003468038

NM_001142800.2(EYS):c.988G>T (p.Glu330Ter)

SNV
Unknown

Chr6:65405242

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364662698

rs_144803840

1 SubmittersRCV003460082

NM_001142800.2(EYS):c.1335T>A (p.Cys445Ter)

SNV
Germline

Chr6:65353582

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364661881

rs_2150327300

2 SubmittersRCV003468042 RCV003669429

NM_001142800.2(EYS):c.1123G>T (p.Glu375Ter)

SNV
Germline

Chr6:65402539

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364662384

rs_2533367146

2 SubmittersRCV003468044

NM_001142800.2(EYS):c.5071G>T (p.Glu1691Ter)

SNV
Unknown

Chr6:64590796

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364781917

rs_2533150983

1 SubmittersRCV003468048

NM_001142800.2(EYS):c.110C>A (p.Ser37Ter)

SNV
Unknown

Chr6:65495301

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364790630

rs_2533030372

1 SubmittersRCV003468051

NM_001142800.2(EYS):c.1460-2A>C

SNV
Unknown

Chr6:65344179

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364661594

rs_2533170434

1 SubmittersRCV003468053

NM_001142800.2(EYS):c.1122T>A (p.Cys374Ter)

SNV
Unknown

Chr6:65402540

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364662388

rs_1363011952

1 SubmittersRCV003468054

NM_001142800.2(EYS):c.8858C>A (p.Ser2953Ter)

SNV
Germline

Chr6:63721173

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA364383815

rs_2533389098

2 SubmittersRCV003468056 RCV003889304

NM_001142800.2(EYS):c.4436C>A (p.Ser1479Ter)

SNV
Unknown

Chr6:64591431

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364783331

rs_2533153861

1 SubmittersRCV003468057

NM_001142800.2(EYS):c.3510T>A (p.Cys1170Ter)

SNV
Unknown

Chr6:64626179

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364785389

rs_2533233973

1 SubmittersRCV003468059

NM_001142800.2(EYS):c.5988C>A (p.Cys1996Ter)

SNV
Unknown

Chr6:64388780

Pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364392125

rs_370988507

1 SubmittersRCV003468064

NM_001142800.2(EYS):c.4939G>T (p.Glu1647Ter)

SNV
Unknown

Chr6:64590928

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364782210

rs_2533151634

1 SubmittersRCV003468065

NM_001142800.2(EYS):c.6595C>T (p.Gln2199Ter)

SNV
Unknown

Chr6:64066468

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364389921

rs_1212231432

1 SubmittersRCV003460087

NM_001142800.2(EYS):c.2993-1G>A

SNV
Germline

Chr6:64822823

Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364788128

rs_1303686019

3 SubmittersRCV003460088 RCV003779023

NM_001142800.2(EYS):c.2381+1G>C

SNV
Unknown

Chr6:64945792

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364787866

rs_1769267226

1 SubmittersRCV003460089

NM_001142800.2(EYS):c.8697C>A (p.Cys2899Ter)

SNV
Unknown

Chr6:63721334

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364384183

rs_2533390372

1 SubmittersRCV003460091

NM_001142800.2(EYS):c.3143C>G (p.Ser1048Ter)

SNV
Germline

Chr6:64822672

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364787405

rs_2533168805

2 SubmittersRCV003460092 RCV003565673

NM_001142800.2(EYS):c.6835-2A>T

SNV
Unknown

Chr6:63984605

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364389090

rs_2533330013

1 SubmittersRCV003460094

NM_001142800.2(EYS):c.4791T>A (p.Tyr1597Ter)

SNV
Germline

Chr6:64591076

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364782522

rs_2533152075

2 SubmittersRCV003460096

NM_001142800.2(EYS):c.7372C>T (p.Gln2458Ter)

SNV
Unknown

Chr6:63806229

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

CA364387542

rs_2533573874

1 SubmittersRCV003460099

NM_001201543.2(FAM161A):c.1651A>T (p.Arg551Ter)

SNV
Unknown

Chr2:61838638

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

CA346986064

rs_1181648787

1 SubmittersRCV003460117

NM_001201543.2(FAM161A):c.1044T>A (p.Tyr348Ter)

SNV
Germline

Chr2:61839960

Pathogenic/Likely pathogenic

Retinitis pigmentosa 28
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA346987554

rs_549784796

3 SubmittersRCV003460122 RCV004587496

NM_001201543.2(FAM161A):c.997C>T (p.Gln333Ter)

SNV
Unknown

Chr2:61840007

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

CA346987653

rs_1672947913

1 SubmittersRCV003460123

NM_001201543.2(FAM161A):c.2006+1G>A

SNV
Unknown

Chr2:61827103

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

CA1678977

rs_753144249

1 SubmittersRCV003468086

NM_001201543.2(FAM161A):c.1015G>T (p.Glu339Ter)

SNV
Unknown

Chr2:61839989

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

CA346987622

rs_2466025366

1 SubmittersRCV003468089

NM_001201543.2(FAM161A):c.1610T>A (p.Leu537Ter)

SNV
Germline

Chr2:61838679

Pathogenic/Likely pathogenic

Retinitis pigmentosa 28
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346986158

rs_750185328

2 SubmittersRCV003468090 RCV003661060

NM_001201543.2(FAM161A):c.695G>A (p.Trp232Ter)

SNV
Unknown

Chr2:61840309

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

CA346988586

rs_2466027626

1 SubmittersRCV003460134

NM_201548.5(CERKL):c.385G>T (p.Glu129Ter)

SNV
Unknown

Chr2:181603933

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA2010852

rs_765305472

1 SubmittersRCV003468368

NM_201548.5(CERKL):c.541G>T (p.Glu181Ter)

SNV
Unknown

Chr2:181573825

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA349744122

rs_2468354691

1 SubmittersRCV003468369

NM_201548.5(CERKL):c.678-1G>T

SNV
Unknown

Chr2:181558709

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA349741157

rs_1209393896

1 SubmittersRCV003475653

NM_201548.5(CERKL):c.613+1G>C

SNV
Unknown

Chr2:181573752

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA349743966

rs_2468354364

1 SubmittersRCV003475656

NM_201548.5(CERKL):c.482-1G>A

SNV
Unknown

Chr2:181573885

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA349744304

rs_1387835815

1 SubmittersRCV003475657

NM_201548.5(CERKL):c.1366-1G>T

SNV
Unknown

Chr2:181539265

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA349733510

rs_1574426870

1 SubmittersRCV003475658

NM_201548.5(CERKL):c.239-2A>C

SNV
Unknown

Chr2:181604081

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA349731158

rs_776886395

1 SubmittersRCV003475659

NM_201548.5(CERKL):c.238+1G>T

SNV
Unknown

Chr2:181656768

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA349744184

rs_1276597208

1 SubmittersRCV003475660

NM_201548.5(CERKL):c.304A>T (p.Lys102Ter)

SNV
Unknown

Chr2:181604014

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA349730791

rs_2468433740

1 SubmittersRCV003475662

NM_201548.5(CERKL):c.1159+1G>A

SNV
Unknown

Chr2:181547821

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA349735751

rs_1364032336

1 SubmittersRCV003475663

NM_201548.5(CERKL):c.1160-2A>G

SNV
Unknown

Chr2:181547728

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA349735730

rs_2468291727

1 SubmittersRCV003475664

NM_201548.5(CERKL):c.1365+2T>C

SNV
Unknown

Chr2:181544698

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

CA349734324

rs_2468283124

1 SubmittersRCV003475665

NM_015629.4(PRPF31):c.239-1G>C

SNV
Germline

Chr19:54121859

Likely pathogenic

Retinitis pigmentosa 11

Criteria Provided
Single Submitter

CA407749023

rs_2073798309

1 SubmittersRCV003448825

NM_001034853.2(RPGR):c.197A>G (p.Gln66Arg)

SNV
Germline

ChrX:38322903

Conflicting classifications of pathogenicity

Retinitis pigmentosa 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412745607

rs_2519909444

2 SubmittersRCV003484582 RCV004721197

NM_000283.4(PDE6B):c.1070T>A (p.Ile357Asn)

SNV
Unknown

Chr4:656255

Likely pathogenic

Retinitis pigmentosa 40

Criteria Provided
Single Submitter

CA355912861

rs_376325785

1 SubmittersRCV003484583

NM_001142800.2(EYS):c.5644+1G>A

SNV
Germline

Chr6:64590222

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364780663

rs_2533148588

2 SubmittersRCV003495347

NM_014249.4(NR2E3):c.242A>G (p.Tyr81Cys)

SNV
Germline

Chr15:71811606

Likely pathogenic

Condition: not provided
Enhanced S-cone syndrome
Retinitis pigmentosa 37

Criteria Provided
Multiple Submitters
No Conflicts

CA393032212

rs_1246315416

2 SubmittersRCV003559867 RCV005003673

NM_000350.3(ABCA4):c.1519G>T (p.Asp507Tyr)

SNV
Germline

Chr1:94077725

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA958508

rs_148234178

2 SubmittersRCV003562269 RCV005240819

NM_000350.3(ABCA4):c.559C>T (p.Arg187Cys)

SNV
Germline

Chr1:94103026

Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA958816

rs_772735093

2 SubmittersRCV003562273 RCV005036878

NM_206933.4(USH2A):c.7364G>A (p.Trp2455Ter)

SNV
Germline

Chr1:215900842

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344850017

rs_2464785255

3 SubmittersRCV003554894 RCV004574092 RCV005014765

NM_206933.4(USH2A):c.6925T>C (p.Cys2309Arg)

SNV
Germline

Chr1:215970657

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344853962

rs_772407116

2 SubmittersRCV003554896 RCV004574093

NM_206933.4(USH2A):c.5776G>A (p.Glu1926Lys)

SNV
Germline

Chr1:216073097

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344853967

rs_1404685640

2 SubmittersRCV003554897 RCV005014766

NM_006343.3(MERTK):c.721C>T (p.Gln241Ter)

SNV
Germline

Chr2:111947531

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 38

Criteria Provided
Multiple Submitters
No Conflicts

CA348229254

rs_2466781317

2 SubmittersRCV003554956 RCV004798982

NM_014714.4(IFT140):c.811-2A>G

SNV
Germline

Chr16:1588026

Likely pathogenic

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

CA394217928

rs_1596419766

2 SubmittersRCV003531018 RCV005014785

NM_031885.5(BBS2):c.345+1G>A

SNV
Germline

Chr16:56514452

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA8066079

rs_771700269

2 SubmittersRCV003522912 RCV005014819

NM_206933.4(USH2A):c.1551-1G>A

SNV
Germline

Chr1:216321977

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344908310

rs_2037622753

2 SubmittersRCV005013070 RCV003665611

NM_000350.3(ABCA4):c.5486T>C (p.Leu1829Pro)

SNV
Germline

Chr1:94011360

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

CA341281159

rs_2523657983

2 SubmittersRCV003665440 RCV004796834

NM_001297.5(CNGB1):c.412+1G>T

SNV
Germline

Chr16:57962841

Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA396079301

rs_1377594602

2 SubmittersRCV003661968 RCV004801375

NM_001379270.1(CNGA1):c.107+2T>G

SNV
Germline

Chr4:47952581

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 49

Criteria Provided
Multiple Submitters
No Conflicts

CA2911389

rs_764086464

2 SubmittersRCV003670669 RCV005036919

NM_001297.5(CNGB1):c.1977G>A (p.Trp659Ter)

SNV
Germline

Chr16:57917457

Pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA396064607

rs_2544633550

2 SubmittersRCV003683975 RCV004813235

NM_001242957.3(MAK):c.1741C>T (p.Gln581Ter)

SNV
Germline

Chr6:10770162

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 62

Criteria Provided
Multiple Submitters
No Conflicts

CA362714452

rs_746594889

3 SubmittersRCV003677518 RCV004818393 RCV005047740

NM_001142800.2(EYS):c.1052C>A (p.Ser351Ter)

SNV
Germline

Chr6:65405178

Pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364662557

rs_2533376526

2 SubmittersRCV003985631 RCV003714243

NM_014249.4(NR2E3):c.196G>T (p.Gly66Cys)

SNV
Germline

Chr15:71811560

Conflicting classifications of pathogenicity

Condition: not provided
Atypical retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA393032096

rs_770937516

2 SubmittersRCV003713660 RCV005419674

NM_001029883.3(PCARE):c.2159G>A (p.Trp720Ter)

SNV
Germline

Chr2:29072103

Pathogenic

Condition: not provided
Retinitis pigmentosa 54
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA346478116

rs_2465275931

4 SubmittersRCV003706638 RCV005235727 RCV004818398 RCV005419676

NM_205861.3(DHDDS):c.657+1G>A

SNV
Germline

Chr1:26457906

Likely pathogenic

Retinitis pigmentosa 59

Criteria Provided
Single Submitter

CA339144912

rs_1314876691

1 SubmittersRCV003641756

NM_001142800.2(EYS):c.5084C>G (p.Ser1695Ter)

SNV
Germline

Chr6:64590783

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364781890

rs_2533150905

2 SubmittersRCV003687357 RCV005047755

NM_206933.4(USH2A):c.8681+1G>C

SNV
Germline

Chr1:215877757

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344828770

rs_876657733

3 SubmittersRCV003687446 RCV004573151 RCV005014861

NM_001142800.2(EYS):c.1443G>A (p.Trp481Ter)

SNV
Germline

Chr6:65353474

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364661635

rs_2533202503

2 SubmittersRCV003728387 RCV004573263

NM_001142800.2(EYS):c.2410C>T (p.Gln804Ter)

SNV
Germline

Chr6:64912715

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364786589

rs_2533384296

2 SubmittersRCV004573258 RCV003720287

NM_001142800.2(EYS):c.2791G>T (p.Glu931Ter)

SNV
Germline

Chr6:64902168

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA364785677

rs_1209836295

2 SubmittersRCV003725203 RCV005036982

NM_016247.4(IMPG2):c.828+1G>A

SNV
Germline

Chr3:101273580

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 56

Criteria Provided
Multiple Submitters
No Conflicts

CA2519380

rs_1333793119

2 SubmittersRCV003727084 RCV005254868

NM_014714.4(IFT140):c.3060C>G (p.Tyr1020Ter)

SNV
Germline

Chr16:1524633

Pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7813339

rs_545658252

2 SubmittersRCV003647104 RCV005013161

NM_201548.5(CERKL):c.1074-2A>C

SNV
Germline

Chr2:181548606

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349736665

rs_2105803582

2 SubmittersRCV003738977 RCV004573282

NM_000883.4(IMPDH1):c.256A>G (p.Met86Val)

SNV
Germline

Chr7:128405864

Likely pathogenic

Retinitis pigmentosa 10

No Assertion Criteria Provided

1 SubmittersRCV004691608

NM_001242957.3(MAK):c.104T>A (p.Met35Lys)

SNV
Germline

Chr6:10818938

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 62

No Assertion Criteria Provided

2 SubmittersRCV004818410 RCV004691614

NM_000440.3(PDE6A):c.1273C>T (p.Gln425Ter)

SNV
Germline

Chr5:149898497

Likely pathogenic

Retinitis pigmentosa 43

No Assertion Criteria Provided

1 SubmittersRCV004691618

NM_206933.4(USH2A):c.10073G>C (p.Cys3358Ser)

SNV
Germline

Chr1:215790168

Likely pathogenic

Retinitis pigmentosa 39

No Assertion Criteria Provided

1 SubmittersRCV004691634

NM_000554.6(CRX):c.682C>T (p.Gln228Ter)

SNV
Germline

Chr19:47839749

Pathogenic/Likely pathogenic

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA406631545

rs_2514256545

2 SubmittersRCV003783737 RCV005235731

NM_015662.3(IFT172):c.1144C>T (p.Leu382=)

SNV
Germline

Chr2:27478018

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA425412905

rs_1346517687

2 SubmittersRCV003784104 RCV003889335

NM_000329.3(RPE65):c.1339-2A>G

SNV
Germline

Chr1:68431178

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340742329

rs_1645823354

1 SubmittersRCV003781938

NM_015662.3(IFT172):c.402+2T>C

SNV
Germline

Chr2:27483870

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346401013

rs_774548930

1 SubmittersRCV003782114

NM_015662.3(IFT172):c.1972C>T (p.Arg658Ter)

SNV
Germline

Chr2:27463147

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346385334

rs_1553329745

1 SubmittersRCV003782148

NM_201253.3(CRB1):c.2129-1G>A

SNV
Germline

Chr1:197427453

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344036264

rs_1664642051

2 SubmittersRCV003797797 RCV005013189

NM_201253.3(CRB1):c.535C>T (p.Gln179Ter)

SNV
Germline

Chr1:197328886

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344085985

rs_1658690599

1 SubmittersRCV003798070

NM_152419.3(HGSNAT):c.818A>T (p.Asn273Ile)

SNV
Germline

Chr8:43172384

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA371116459

rs_2486973322

1 SubmittersRCV003782791

NM_201253.3(CRB1):c.3538G>T (p.Glu1180Ter)

SNV
Germline

Chr1:197435401

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1312355

rs_149216103

1 SubmittersRCV003782856

NM_000329.3(RPE65):c.725+1G>T

SNV
Germline

Chr1:68439560

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340745902

rs_1260969698

1 SubmittersRCV003782954

NM_015662.3(IFT172):c.1459C>T (p.Arg487Cys)

SNV
Germline

Chr2:27472315

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA1580641

rs_143520040

3 SubmittersRCV003783208 RCV004554328 RCV005014951

NM_000329.3(RPE65):c.726-1G>A

SNV
Germline

Chr1:68439324

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745896

rs_2523426837

1 SubmittersRCV003780947

NM_201253.3(CRB1):c.2371G>C (p.Gly791Arg)

SNV
Germline

Chr1:197427696

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344037070

rs_2528150148

1 SubmittersRCV003780956

NM_201253.3(CRB1):c.2815T>G (p.Cys939Gly)

SNV
Germline

Chr1:197429587

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344041303

rs_1664775504

2 SubmittersRCV003780959 RCV004573304

NM_201253.3(CRB1):c.2966T>C (p.Ile989Thr)

SNV
Germline

Chr1:197434829

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344044069

rs_2528196742

1 SubmittersRCV003780960

NM_201253.3(CRB1):c.3687C>A (p.Cys1229Ter)

SNV
Germline

Chr1:197435550

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
CRB1-related disorder

Criteria Provided
Single Submitter

CA344050438

rs_2528205083

2 SubmittersRCV003780962 RCV004539124

NM_152419.3(HGSNAT):c.1726+1G>A

SNV
Germline

Chr8:43197953

Likely pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371120871

rs_2487119248

1 SubmittersRCV003781090

NM_201253.3(CRB1):c.454T>C (p.Cys152Arg)

SNV
Germline

Chr1:197328805

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344085810

rs_2465030529

1 SubmittersRCV003781154

NM_152419.3(HGSNAT):c.852G>A (p.Trp284Ter)

SNV
Germline

Chr8:43178074

Pathogenic/Likely pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Multiple Submitters
No Conflicts

CA371116841

rs_777146364

2 SubmittersRCV003789752

NM_015662.3(IFT172):c.4642C>T (p.Gln1548Ter)

SNV
Germline

Chr2:27447532

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346416488

rs_2465802780

1 SubmittersRCV003779391

NM_001378615.1(CC2D2A):c.1359+1G>C

SNV
Germline

Chr4:15527657

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356410569

rs_1717586613

2 SubmittersRCV003779435 RCV005030262

NM_000329.3(RPE65):c.12-2A>T

SNV
Germline

Chr1:68448708

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340750359

rs_1400678650

1 SubmittersRCV003782613

NM_015662.3(IFT172):c.3229-9G>T

SNV
Germline

Chr2:27456662

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA1580038

rs_775776080

2 SubmittersRCV003780399 RCV005030264

NM_001378615.1(CC2D2A):c.463C>T (p.Gln155Ter)

SNV
Germline

Chr4:15510163

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356408524

rs_2474909050

2 SubmittersRCV003780839 RCV005038508

NM_201253.3(CRB1):c.222C>A (p.Cys74Ter)

SNV
Germline

Chr1:197328573

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344085303

rs_772819260

1 SubmittersRCV003787130

NM_201253.3(CRB1):c.1623C>A (p.Tyr541Ter)

SNV
Germline

Chr1:197421451

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344031741

rs_1256037063

2 SubmittersRCV003789290 RCV004573312

NM_015662.3(IFT172):c.786-2A>G

SNV
Germline

Chr2:27480151

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder

Criteria Provided
Single Submitter

CA1580857

rs_757253624

2 SubmittersRCV003792783 RCV004723475

NM_201253.3(CRB1):c.2129-2A>G

SNV
Germline

Chr1:197427452

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344036259

rs_2125483466

2 SubmittersRCV003792849 RCV005013187

NM_000329.3(RPE65):c.644-1G>A

SNV
Germline

Chr1:68439643

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340746083

rs_61752892

1 SubmittersRCV003795314

NM_201253.3(CRB1):c.1571T>C (p.Leu524Pro)

SNV
Germline

Chr1:197421399

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA1311934

rs_762223255

1 SubmittersRCV003790162

NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)

SNV
Germline

Chr1:68431370

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA340742706

rs_2523403039

2 SubmittersRCV003790390 RCV005240933

NM_003611.3(OFD1):c.2261G>A (p.Gly754Asp)

SNV
Germline

ChrX:13761085

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Joubert syndrome 10
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351975

rs_190688700

2 SubmittersRCV003786619 RCV005040505

NM_015662.3(IFT172):c.4936C>T (p.Arg1646Ter)

SNV
Germline

Chr2:27445428

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA1579406

rs_760097703

1 SubmittersRCV003786730

NM_015662.3(IFT172):c.1411+2T>C

SNV
Germline

Chr2:27476639

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Multiple Submitters
No Conflicts

CA346392657

rs_2465979379

2 SubmittersRCV003786745 RCV005030266

NM_201253.3(CRB1):c.1147T>G (p.Cys383Gly)

SNV
Germline

Chr1:197356989

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344084631

rs_1571897130

1 SubmittersRCV003784984

NM_015662.3(IFT172):c.2116-2A>G

SNV
Germline

Chr2:27461838

Likely pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Single Submitter

CA346384964

rs_1393522194

1 SubmittersRCV003796128

NM_000329.3(RPE65):c.858+1G>C

SNV
Germline

Chr1:68439190

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340745358

rs_61752899

1 SubmittersRCV003794227

NM_015662.3(IFT172):c.2209G>T (p.Glu737Ter)

SNV
Germline

Chr2:27461502

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA346384743

rs_2465878992

1 SubmittersRCV003794253

NM_015662.3(IFT172):c.3562C>T (p.Gln1188Ter)

SNV
Germline

Chr2:27454131

Pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Single Submitter

CA44490529

rs_983926349

1 SubmittersRCV003794562

NM_001278293.3(ARL6):c.228C>A (p.Tyr76Ter)

SNV
Germline

Chr3:97780657

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

CA353586183

rs_2037147164

1 SubmittersRCV003792133

NM_152419.3(HGSNAT):c.86C>A (p.Ser29Ter)

SNV
Germline

Chr8:43140582

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371124648

rs_2486808089

1 SubmittersRCV003807897

NM_201253.3(CRB1):c.3898G>T (p.Glu1300Ter)

SNV
Germline

Chr1:197442185

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344052443

rs_2528243560

1 SubmittersRCV003806234

NM_201253.3(CRB1):c.2687G>T (p.Cys896Phe)

SNV
Germline

Chr1:197429459

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified

Criteria Provided
Conflicting Classifications

CA344040378

rs_1571544334

2 SubmittersRCV003808255 RCV004801403

NM_000329.3(RPE65):c.366C>A (p.Tyr122Ter)

SNV
Germline

Chr1:68444660

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340747977

rs_1479443954

1 SubmittersRCV003806552

NM_015662.3(IFT172):c.4815+1G>A

SNV
Germline

Chr2:27445928

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA1579466

rs_752257485

1 SubmittersRCV003790902

NM_152419.3(HGSNAT):c.610G>T (p.Glu204Ter)

SNV
Germline

Chr8:43169219

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371115997

rs_1369781438

1 SubmittersRCV003791631

NM_001378615.1(CC2D2A):c.2923-1G>A

SNV
Germline

Chr4:15560530

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356413310

rs_2475051413

2 SubmittersRCV003800059 RCV004796847

NM_000329.3(RPE65):c.55G>A (p.Val19Met)

SNV
Germline

Chr1:68448663

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340750220

rs_1645959896

2 SubmittersRCV003805986 RCV004527467

NM_201253.3(CRB1):c.70+1G>C

SNV
Germline

Chr1:197268483

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344082565

rs_1237424465

1 SubmittersRCV003803957

NM_015662.3(IFT172):c.3712-2A>T

SNV
Germline

Chr2:27453741

Likely pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Single Submitter

CA346378103

rs_2465833474

1 SubmittersRCV003800585

NM_201253.3(CRB1):c.4207G>A (p.Glu1403Lys)

SNV
Germline

Chr1:197477865

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344036084

rs_1667269806

1 SubmittersRCV003800612

NM_201253.3(CRB1):c.2548G>T (p.Gly850Cys)

SNV
Germline

Chr1:197427873

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344038183

rs_776591659

1 SubmittersRCV003803136

NM_001278293.3(ARL6):c.123+1G>A

SNV
Germline

Chr3:97768231

Likely pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Single Submitter

CA353582837

rs_1195519595

1 SubmittersRCV003803380

NM_201253.3(CRB1):c.3288T>A (p.Cys1096Ter)

SNV
Germline

Chr1:197435151

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344046997

rs_2528200607

1 SubmittersRCV003801097

NM_000329.3(RPE65):c.336C>A (p.Cys112Ter)

SNV
Germline

Chr1:68444793

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340748160

rs_1448061146

1 SubmittersRCV003801208

NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)

SNV
Germline

Chr8:43140526

Conflicting classifications of pathogenicity

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA460574349

rs_2130647781

2 SubmittersRCV003795101 RCV003889341

NM_000329.3(RPE65):c.1148T>G (p.Leu383Ter)

SNV
Germline

Chr1:68431566

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA23564445

rs_974466164

1 SubmittersRCV003795144

NM_015662.3(IFT172):c.1326-1G>A

SNV
Germline

Chr2:27476727

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

CA1580691

rs_781527567

1 SubmittersRCV003795259

NM_000329.3(RPE65):c.95-1G>C

SNV
Germline

Chr1:68446861

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340749358

rs_2523452435

1 SubmittersRCV003800197

NM_001278293.3(ARL6):c.188T>A (p.Leu63Ter)

SNV
Germline

Chr3:97780617

Pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Single Submitter

CA353585947

rs_2529895361

1 SubmittersRCV003800281

NM_000329.3(RPE65):c.803G>A (p.Trp268Ter)

SNV
Germline

Chr1:68439246

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745704

rs_2523426491

1 SubmittersRCV003800685

NM_000329.3(RPE65):c.411C>G (p.Tyr137Ter)

SNV
Germline

Chr1:68444615

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340747878

rs_1422501788

1 SubmittersRCV003809233

NM_000329.3(RPE65):c.646A>T (p.Lys216Ter)

SNV
Germline

Chr1:68439640

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340746075

rs_1557600450

1 SubmittersRCV003804670

NM_152419.3(HGSNAT):c.493+1G>C

SNV
Germline

Chr8:43159045

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371115717

rs_193066451

1 SubmittersRCV003804690

NM_001278293.3(ARL6):c.252T>G (p.Tyr84Ter)

SNV
Germline

Chr3:97780681

Pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Single Submitter

CA353586338

rs_2529896796

1 SubmittersRCV003810119

NM_001278293.3(ARL6):c.254+1G>A

SNV
Germline

Chr3:97780684

Likely pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Single Submitter

CA353586361

rs_2529896839

1 SubmittersRCV003817760

NM_201253.3(CRB1):c.570T>A (p.Cys190Ter)

SNV
Germline

Chr1:197328921

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344081579

rs_2465032365

1 SubmittersRCV003817820

NM_152419.3(HGSNAT):c.127A>T (p.Lys43Ter)

SNV
Germline

Chr8:43146956

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371124751

rs_2486847061

1 SubmittersRCV003809654

NM_201253.3(CRB1):c.3914C>G (p.Pro1305Arg)

SNV
Germline

Chr1:197442201

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344052515

rs_1391910861

1 SubmittersRCV003809826

NM_001278293.3(ARL6):c.66C>A (p.Cys22Ter)

SNV
Germline

Chr3:97768173

Pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Single Submitter

CA353582374

rs_2529766743

1 SubmittersRCV003810040

NM_000329.3(RPE65):c.513T>A (p.Tyr171Ter)

SNV
Germline

Chr1:68440983

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340747196

rs_1294621553

1 SubmittersRCV003815220

NM_201253.3(CRB1):c.2297G>A (p.Trp766Ter)

SNV
Germline

Chr1:197427622

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344036920

rs_2528148995

1 SubmittersRCV003815433

NM_152419.3(HGSNAT):c.820+1G>A

SNV
Germline

Chr8:43172387

Likely pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371116465

rs_2486973391

1 SubmittersRCV003815528

NM_201253.3(CRB1):c.2587G>T (p.Glu863Ter)

SNV
Germline

Chr1:197427912

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344038408

rs_2125485227

1 SubmittersRCV003807353

NM_152419.3(HGSNAT):c.557T>A (p.Leu186Ter)

SNV
Germline

Chr8:43161501

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

CA371115856

rs_2486919454

1 SubmittersRCV003812352

NM_201253.3(CRB1):c.3495T>A (p.Cys1165Ter)

SNV
Germline

Chr1:197435358

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344048359

rs_1665099725

1 SubmittersRCV003812639

NM_201253.3(CRB1):c.2129-1G>T

SNV
Germline

Chr1:197427453

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344036267

rs_1664642051

1 SubmittersRCV003813016

NM_000329.3(RPE65):c.1299T>A (p.Tyr433Ter)

SNV
Germline

Chr1:68431321

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340742495

rs_763437650

1 SubmittersRCV003807241

NM_000329.3(RPE65):c.859-2A>C

SNV
Germline

Chr1:68439083

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340745298

rs_980844308

1 SubmittersRCV003805052

NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter)

SNV
Germline

Chr1:197421072

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344029907

rs_760419335

2 SubmittersRCV003810306 RCV004794660

NM_152419.3(HGSNAT):c.852-2A>G

SNV
Germline

Chr8:43178072

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

CA371116833

rs_755710040

1 SubmittersRCV003810372

NM_001102564.3(IFT43):c.369-11C>A

SNV
Germline

Chr14:76082606

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 18 with polydactyly
Retinitis pigmentosa 81
Cranioectodermal dysplasia 3

Criteria Provided
Conflicting Classifications

CA615074063

rs_1566740420

2 SubmittersRCV003816861 RCV005003725

NM_014714.4(IFT140):c.2475G>T (p.Gly825=)

SNV
Germline

Chr16:1526721

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7813617

rs_773701460

2 SubmittersRCV003829338 RCV005015006

NM_000440.3(PDE6A):c.715C>T (p.Gln239Ter)

SNV
Germline

Chr5:149933932

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA361697772

rs_1366137772

2 SubmittersRCV003864117 RCV005038594

NM_001201543.2(FAM161A):c.1138C>T (p.Arg380Ter)

SNV
Germline

Chr2:61839866

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 28

Criteria Provided
Multiple Submitters
No Conflicts

CA346987305

rs_764845483

3 SubmittersRCV003859169 RCV004573368

NM_001297.5(CNGB1):c.1121+1G>A

SNV
Germline

Chr16:57949352

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8083554

rs_754146758

2 SubmittersRCV003860197 RCV005013254

NM_006269.2(RP1):c.4249C>G (p.Leu1417Val)

SNV
Germline

Chr8:54628131

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 1

Criteria Provided
Conflicting Classifications

CA4751828

rs_766709333

3 SubmittersRCV003875662 RCV003889358 RCV005392722

NM_014053.4(FLVCR1):c.375G>A (p.Trp125Ter)

SNV
Germline

Chr1:212858827

Likely pathogenic

Posterior column ataxia-retinitis pigmentosa syndrome

Criteria Provided
Single Submitter

CA344795914

rs_2464385404

1 SubmittersRCV003881695

NM_000539.3(RHO):c.67C>A (p.Pro23Thr)

SNV
Germline

Chr3:129528800

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

CA354495488

rs_104893797

1 SubmittersRCV003883226

NM_001142800.2(EYS):c.632G>A (p.Cys211Tyr)

SNV
Germline

Chr6:65494779

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA364789483

rs_772707303

3 SubmittersRCV003891092 RCV005101480 RCV005419735

NM_206933.4(USH2A):c.14570G>T (p.Gly4857Val)

SNV
Germline

Chr1:215648540

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344833045

rs_749889050

2 SubmittersRCV003890504 RCV004573414

NM_206933.4(USH2A):c.12447G>A (p.Trp4149Ter)

SNV
Germline

Chr1:215675464

Likely pathogenic

Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344850880

rs_2464900474

2 SubmittersRCV003890527 RCV005006329

NM_206933.4(USH2A):c.1645-2A>C

SNV
Germline

Chr1:216292372

Pathogenic/Likely pathogenic

Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344903662

rs_2528257197

2 SubmittersRCV003890608 RCV005015083

NM_015662.3(IFT172):c.1969G>A (p.Ala657Thr)

SNV
Germline

Chr2:27463150

Conflicting classifications of pathogenicity

Retinal dystrophy
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA346385340

rs_190366845

2 SubmittersRCV003890665 RCV005015084

NM_015662.3(IFT172):c.273T>C (p.Tyr91=)

SNV
Germline

Chr2:27485041

Conflicting classifications of pathogenicity

Retinal dystrophy
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA425415285

rs_1270472738

2 SubmittersRCV003890671 RCV005216146

NM_201253.3(CRB1):c.1421G>A (p.Gly474Asp)

SNV
Germline

Chr1:197421249

Likely pathogenic

Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344030838

rs_1335922101

1 SubmittersRCV003989203

NM_025130.4(HKDC1):c.1250A>G (p.Tyr417Cys)

SNV
Germline

Chr10:69247578

Likely pathogenic

Retinitis pigmentosa 92

Criteria Provided
Single Submitter

CA376924677

rs_2539918923

1 SubmittersRCV003990493

NM_006343.3(MERTK):c.2227G>A (p.Gly743Ser)

SNV
Germline

Chr2:112021459

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348238877

rs_1573648098

1 SubmittersRCV003990571

NM_025130.4(HKDC1):c.250G>A (p.Asp84Asn)

SNV
Germline

Chr10:69232787

Likely pathogenic

Retinitis pigmentosa 92

Criteria Provided
Single Submitter

CA376918404

rs_2539897956

1 SubmittersRCV003990655

NM_020843.4(SCAPER):c.2364T>A (p.Tyr788Ter)

SNV
Germline

Chr15:76702886

Likely pathogenic

Intellectual developmental disorder and retinitis pigmentosa
IDDRP

Criteria Provided
Single Submitter

CA393637097

rs_1192028272

1 SubmittersRCV003989435

NM_014714.4(IFT140):c.1963C>T (p.Gln655Ter)

SNV
Germline

Chr16:1564101

Likely pathogenic

Retinitis pigmentosa 80
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394204973

rs_772603273

2 SubmittersRCV003991116 RCV005015111

NM_001034853.2(RPGR):c.350G>T (p.Gly117Val)

SNV
Germline

ChrX:38318948

Likely pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

CA412745247

rs_2519895135

1 SubmittersRCV003991187

NM_203288.2(RP9):c.5C>A (p.Ser2Ter)

SNV
Germline

Chr7:33109368

Likely pathogenic

Retinitis pigmentosa 9

Criteria Provided
Single Submitter

CA367185480

rs_1010772189

1 SubmittersRCV003991368

NM_006017.3(PROM1):c.509+1G>A

SNV
Germline

Chr4:16033303

Likely pathogenic

Retinitis pigmentosa 41
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356426959

rs_1560532624

2 SubmittersRCV003991387 RCV005103174

NM_006445.4(PRPF8):c.4338+2T>C

SNV
Germline

Chr17:1661269

Conflicting classifications of pathogenicity

Neurodevelopmental disorder
Retinitis pigmentosa 13

Criteria Provided
Conflicting Classifications

CA397576901

rs_2543734023

2 SubmittersRCV004787088 RCV003993609

NM_031885.5(BBS2):c.118-2A>G

SNV
Germline

Chr16:56514682

Likely pathogenic

Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395986503

rs_2543742094

2 SubmittersRCV003991772 RCV005015113

NM_001278293.3(ARL6):c.255-2A>T

SNV
Germline

Chr3:97784953

Pathogenic

Retinitis pigmentosa 55

Criteria Provided
Single Submitter

CA353586927

rs_2529939513

1 SubmittersRCV004006258

NM_201548.5(CERKL):c.1177C>T (p.Gln393Ter)

SNV
Germline

Chr2:181547709

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2010503

rs_748555018

2 SubmittersRCV004018311 RCV005103366

NM_014714.4(IFT140):c.4009G>A (p.Ala1337Thr)

SNV
Germline

Chr16:1519912

Conflicting classifications of pathogenicity

Inborn genetic diseases
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA7812955

rs_762750524

2 SubmittersRCV004400275 RCV005006383

NM_178857.6(RP1L1):c.2011C>T (p.Arg671Cys)

SNV
Germline

Chr8:10612087

Conflicting classifications of pathogenicity

Inborn genetic diseases
Occult macular dystrophy
Retinitis pigmentosa 88

Criteria Provided
Conflicting Classifications

CA4624975

rs_375370418

2 SubmittersRCV004449618 RCV005392785

NM_000350.3(ABCA4):c.5351T>C (p.Leu1784Pro)

SNV
Germline

Chr1:94014652

Pathogenic

Stargardt disease
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341281459

rs_746252741

2 SubmittersRCV004526446 RCV005023562

NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr)

SNV
Germline

Chr1:197421518

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344032088

rs_757279881

4 SubmittersRCV004573485 RCV005006434 RCV005220947 RCV004579629

NM_201253.3(CRB1):c.3652T>A (p.Cys1218Ser)

SNV
Germline

Chr1:197435515

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA35907969

rs_968499207

2 SubmittersRCV004527131 RCV005006437

NM_015629.4(PRPF31):c.1A>G (p.Met1Val)

SNV
Germline

Chr19:54118279

Pathogenic

Retinitis pigmentosa 11

Criteria Provided
Single Submitter

rs_1555791188

1 SubmittersRCV004566468

NM_006445.4(PRPF8):c.4367C>T (p.Thr1456Ile)

SNV
Germline

Chr17:1661134

Likely pathogenic

Retinitis pigmentosa 13

Criteria Provided
Single Submitter

CA397576735

rs_2543733653

1 SubmittersRCV004554995

NM_014714.4(IFT140):c.2200-1G>C

SNV
Germline

Chr16:1558135

Likely pathogenic

Retinitis pigmentosa 80

Criteria Provided
Single Submitter

CA394201396

rs_2507094628

1 SubmittersRCV004555307

NM_000350.3(ABCA4):c.265G>T (p.Glu89Ter)

SNV
Germline

Chr1:94111475

Pathogenic

Stargardt disease 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

rs_1662601425

2 SubmittersRCV004560356 RCV005254906

NM_000440.3(PDE6A):c.1927-1G>C

SNV
Germline

Chr5:149884580

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1761074706

1 SubmittersRCV004560363

NM_017739.4(POMGNT1):c.1069C>T (p.Gln357Ter)

SNV
Germline

Chr1:46193346

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

rs_750620615

2 SubmittersRCV004574602 RCV005015189

NM_144596.4(TTC8):c.681G>A (p.Trp227Ter)

SNV
Unknown

Chr14:88853027

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

rs_779691797

1 SubmittersRCV004573795

NM_144596.4(TTC8):c.711-2A>G

SNV
Unknown

Chr14:88857188

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

rs_2546203255

1 SubmittersRCV004573796

NM_144596.4(TTC8):c.555T>G (p.Tyr185Ter)

SNV
Unknown

Chr14:88841490

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

rs_2546170602

1 SubmittersRCV004573797

NM_144596.4(TTC8):c.625-1G>T

SNV
Unknown

Chr14:88852970

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

rs_1238547215

1 SubmittersRCV004573798

NM_144596.4(TTC8):c.739C>T (p.Gln247Ter)

SNV
Germline

Chr14:88857218

Pathogenic/Likely pathogenic

Retinitis pigmentosa 51
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2094860666

2 SubmittersRCV004573799 RCV005101916

NM_206933.4(USH2A):c.7187G>A (p.Trp2396Ter)

SNV
Unknown

Chr1:215934729

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_2464889682

1 SubmittersRCV004573817

NM_206933.4(USH2A):c.5572+1G>C

SNV
Unknown

Chr1:216078088

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_775293551

1 SubmittersRCV004573822

NM_206933.4(USH2A):c.5298+2T>C

SNV
Unknown

Chr1:216083454

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_763385498

1 SubmittersRCV004573825

NM_206933.4(USH2A):c.11055G>A (p.Trp3685Ter)

SNV
Unknown

Chr1:215759836

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_779662442

1 SubmittersRCV004573828

NM_206933.4(USH2A):c.11047+2T>C

SNV
Unknown

Chr1:215766679

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_2465097947

1 SubmittersRCV004573830

NM_206933.4(USH2A):c.4552A>T (p.Lys1518Ter)

SNV
Unknown

Chr1:216175327

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_2527987310

1 SubmittersRCV004573833

NM_206933.4(USH2A):c.11865G>A (p.Trp3955Ter)

SNV
Germline

Chr1:215728231

Pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1659889270

2 SubmittersRCV004573835 RCV005101917

NM_206933.4(USH2A):c.14525C>A (p.Ser4842Ter)

SNV
Unknown

Chr1:215648585

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_1558037018

1 SubmittersRCV004573838

NM_206933.4(USH2A):c.3594C>G (p.Tyr1198Ter)

SNV
Unknown

Chr1:216199844

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_749578295

1 SubmittersRCV004573841

NM_206933.4(USH2A):c.2241C>A (p.Cys747Ter)

SNV
Unknown

Chr1:216247153

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_2102546321

1 SubmittersRCV004573843

NM_206933.4(USH2A):c.10585+2T>A

SNV
Unknown

Chr1:215782736

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_2464394047

1 SubmittersRCV004573845

NM_206933.4(USH2A):c.5572+1G>T

SNV
Unknown

Chr1:216078088

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_775293551

1 SubmittersRCV004573846

NM_206933.4(USH2A):c.11389+1G>C

SNV
Germline

Chr1:215758594

Pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_368770647

3 SubmittersRCV004573847 RCV004775579

NM_206933.4(USH2A):c.9055+1G>T

SNV
Unknown

Chr1:215845823

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_1553268562

1 SubmittersRCV004573848

NM_206933.4(USH2A):c.2615T>A (p.Leu872Ter)

SNV
Unknown

Chr1:216246779

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_2528161905

1 SubmittersRCV004573851

NM_206933.4(USH2A):c.7407C>G (p.Tyr2469Ter)

SNV
Unknown

Chr1:215900799

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_2464785092

1 SubmittersRCV004573853

NM_206933.4(USH2A):c.14791+2T>C

SNV
Unknown

Chr1:215647520

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_1553250050

1 SubmittersRCV004573854

NM_201548.5(CERKL):c.613+2T>C

SNV
Germline

Chr2:181573751

Likely pathogenic

Retinitis pigmentosa 26
Retinal dystrophy

Criteria Provided
Single Submitter

rs_1689007552

2 SubmittersRCV004575616 RCV004818467

NM_201253.3(CRB1):c.3429C>A (p.Cys1143Ter)

SNV
Germline

Chr1:197435292

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_755489411

2 SubmittersRCV004575699 RCV005216259

NM_205861.3(DHDDS):c.324-1G>T

SNV
Unknown

Chr1:26446315

Likely pathogenic

Retinitis pigmentosa 59

Criteria Provided
Single Submitter

rs_2524554332

1 SubmittersRCV004575802

NM_001142800.2(EYS):c.3737T>G (p.Leu1246Ter)

SNV
Unknown

Chr6:64593257

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_1766468940

1 SubmittersRCV004576463

NM_001142800.2(EYS):c.5835+1G>A

SNV
Unknown

Chr6:64439161

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_1774851704

1 SubmittersRCV004576467

NM_001142800.2(EYS):c.3309C>A (p.Cys1103Ter)

SNV
Unknown

Chr6:64813512

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_2533145178

1 SubmittersRCV004576468

NM_001142800.2(EYS):c.3569-1G>A

SNV
Unknown

Chr6:64617534

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_2533214688

1 SubmittersRCV004576469

NM_001142800.2(EYS):c.5806C>T (p.Gln1936Ter)

SNV
Unknown

Chr6:64439191

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_2533225836

1 SubmittersRCV004576477

NM_001142800.2(EYS):c.1127C>A (p.Ser376Ter)

SNV
Unknown

Chr6:65402535

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_2533367107

1 SubmittersRCV004576479

NM_001142800.2(EYS):c.2326A>T (p.Lys776Ter)

SNV
Unknown

Chr6:64945848

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_1393913948

1 SubmittersRCV004576487

NM_001142800.2(EYS):c.4712C>A (p.Ser1571Ter)

SNV
Unknown

Chr6:64591155

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_1341636573

1 SubmittersRCV004576488

NM_001142800.2(EYS):c.1185-1G>A

SNV
Unknown

Chr6:65384501

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_1158713034

1 SubmittersRCV004576490

NM_001142800.2(EYS):c.8652C>A (p.Cys2884Ter)

SNV
Unknown

Chr6:63721379

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_923135675

1 SubmittersRCV004576492

NM_001142800.2(EYS):c.3685-1G>T

SNV
Unknown

Chr6:64593310

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_2533159040

1 SubmittersRCV004576493

NM_001142800.2(EYS):c.3244-1G>T

SNV
Unknown

Chr6:64813578

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_2150016293

1 SubmittersRCV004576494

NM_001142800.2(EYS):c.4510C>T (p.Gln1504Ter)

SNV
Unknown

Chr6:64591357

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_1420929225

1 SubmittersRCV004576495

NM_001201543.2(FAM161A):c.90C>G (p.Tyr30Ter)

SNV
Unknown

Chr2:61853952

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

rs_2466073952

1 SubmittersRCV004576508

NM_001201543.2(FAM161A):c.1583+2T>A

SNV
Unknown

Chr2:61839419

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

rs_757001860

1 SubmittersRCV004576509

NM_001201543.2(FAM161A):c.423-1G>T

SNV
Unknown

Chr2:61840582

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

rs_2466029508

1 SubmittersRCV004576513

NM_015629.4(PRPF31):c.1146+5G>T

SNV
Germline

Chr19:54128382

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 11

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004818672 RCV005254915

NM_000350.3(ABCA4):c.2744-2A>G

SNV
Germline

Chr1:94047095

Likely pathogenic

Retinitis pigmentosa 19
Retinal dystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV004776460 RCV004814111

NM_000350.3(ABCA4):c.1017G>A (p.Trp339Ter)

SNV
Germline

Chr1:94080560

Pathogenic

Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004776461 RCV005059570 RCV004814304

NM_000283.4(PDE6B):c.469-1G>A

SNV
Germline

Chr4:634676

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 40

Criteria Provided
Single Submitter

2 SubmittersRCV004814481 RCV005235761

NM_001375654.1(RP1):c.940G>T (p.Asp314Tyr)

SNV
Germline

Chr8:54649137

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 1

Criteria Provided
Conflicting Classifications

rs_528158701

2 SubmittersRCV004585251 RCV005392826

NM_000329.3(RPE65):c.540C>A (p.His180Gln)

SNV
Germline

Chr1:68440956

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2100821857

2 SubmittersRCV005038731 RCV004586291

NM_000350.3(ABCA4):c.2654-2A>C

SNV
Germline

Chr1:94048959

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

rs_2101059901

1 SubmittersRCV004586407

NM_205861.3(DHDDS):c.102C>A (p.Asp34Glu)

SNV
Germline

Chr1:26438206

Likely pathogenic

Retinitis pigmentosa 59

No Assertion Criteria Provided

1 SubmittersRCV004767646

NM_178857.6(RP1L1):c.5170C>T (p.Gln1724Ter)

SNV
Germline

Chr8:10608928

Likely pathogenic

Retinitis pigmentosa 88

Criteria Provided
Single Submitter

1 SubmittersRCV004691651

NM_012106.4(ARL2BP):c.294-1G>C

SNV
Germline

Chr16:57250410

Pathogenic

Retinitis pigmentosa with or without situs inversus

No Assertion Criteria Provided

1 SubmittersRCV004698648

NM_138393.4(REEP6):c.276C>A (p.Tyr92Ter)

SNV
Germline

Chr19:1495535

Likely pathogenic

Retinitis pigmentosa 77

Criteria Provided
Single Submitter

1 SubmittersRCV004698763

NM_201253.3(CRB1):c.401G>T (p.Cys134Phe)

SNV
Germline

Chr1:197328752

Likely pathogenic

Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV004698778

NM_000350.3(ABCA4):c.2279T>C (p.Leu760Pro)

SNV
Germline

Chr1:94056704

Likely pathogenic

Retinitis pigmentosa 19

Criteria Provided
Single Submitter

1 SubmittersRCV004699153

NM_006269.2(RP1):c.2786T>G (p.Leu929Ter)

SNV
Unknown

Chr8:54626668

Pathogenic

Retinitis pigmentosa 1

Criteria Provided
Single Submitter

1 SubmittersRCV005250349

NM_206933.4(USH2A):c.5117G>A (p.Trp1706Ter)

SNV
Germline

Chr1:216084748

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV005250350

NM_014714.4(IFT140):c.1432+1G>A

SNV
Germline

Chr16:1583313

Likely pathogenic

IFT140-related disorder
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

2 SubmittersRCV004753759 RCV005006515

NM_015662.3(IFT172):c.2237G>A (p.Trp746Ter)

SNV
Germline

Chr2:27461474

Pathogenic

IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

2 SubmittersRCV004736991 RCV005218278

NM_178857.6(RP1L1):c.1270A>T (p.Lys424Ter)

SNV
Germline

Chr8:10612828

Likely pathogenic

RP1L1-related disorder
Retinitis pigmentosa

Criteria Provided
Single Submitter

2 SubmittersRCV004752358 RCV005419779

NM_001173991.3(TMEM216):c.-69G>T

SNV
Germline

Chr11:61392563

Pathogenic

Retinitis pigmentosa 98

No Assertion Criteria Provided

1 SubmittersRCV004776316

NM_206933.4(USH2A):c.14969-1G>C

SNV
Germline

Chr1:215639239

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

1 SubmittersRCV004776480

NM_206933.4(USH2A):c.14343+2T>G

SNV
Germline

Chr1:215650590

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

1 SubmittersRCV004776481

NM_206933.4(USH2A):c.1972-1G>T

SNV
Germline

Chr1:216251099

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

1 SubmittersRCV004776482

NM_014714.4(IFT140):c.2769-1G>T

SNV
Germline

Chr16:1525327

Conflicting classifications of pathogenicity

Renal cyst
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004788392 RCV005006560

NM_201253.3(CRB1):c.1267T>G (p.Cys423Gly)

SNV
Germline

Chr1:197421095

Likely pathogenic

Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV004790023

NM_000329.3(RPE65):c.1021T>A (p.Leu341Ile)

SNV
Germline

Chr1:68438294

Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004795276 RCV005218333

NM_000350.3(ABCA4):c.5461-6T>G

SNV
Germline

Chr1:94011391

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

1 SubmittersRCV004796961

NM_017739.4(POMGNT1):c.701G>A (p.Trp234Ter)

SNV
Germline

Chr1:46194603

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

1 SubmittersRCV004797009

NM_003322.6(TULP1):c.1592C>T (p.Ala531Val)

SNV
Germline

Chr6:35498364

Likely pathogenic

Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Single Submitter

1 SubmittersRCV004797066

NM_206933.4(USH2A):c.1144-1G>A

SNV
Germline

Chr1:216324353

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004797271

NM_004183.4(BEST1):c.488T>G (p.Met163Arg)

SNV
Germline

Chr11:61956850

Likely pathogenic

Vitelliform macular dystrophy 2
Retinitis pigmentosa 50
Autosomal recessive bestrophinopathy
Autosomal dominant vitreoretinochoroidopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005411271

NM_000350.3(ABCA4):c.1835A>C (p.Gln612Pro)

SNV
Germline

Chr1:94062679

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

1 SubmittersRCV004797355

NM_006269.2(RP1):c.1951C>T (p.Gln651Ter)

SNV
Germline

Chr8:54625833

Likely pathogenic

Retinitis pigmentosa 1

Criteria Provided
Single Submitter

1 SubmittersRCV004797375

NM_015629.4(PRPF31):c.420+1G>A

SNV
Germline

Chr19:54122595

Pathogenic

Retinitis pigmentosa 11

Criteria Provided
Single Submitter

1 SubmittersRCV004797417

NM_001142800.2(EYS):c.5929C>T (p.Gln1977Ter)

SNV
Germline

Chr6:64388839

Pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV004797440

NM_001034853.2(RPGR):c.2797G>T (p.Glu933Ter)

SNV
Germline

ChrX:38286202

Likely pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

1 SubmittersRCV004795433

NM_014714.4(IFT140):c.2577+2T>C

SNV
Germline

Chr16:1526617

Likely pathogenic

Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV004797670

NM_001379270.1(CNGA1):c.298G>T (p.Glu100Ter)

SNV
Germline

Chr4:47943402

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV004799839

NM_201253.3(CRB1):c.2120G>T (p.Cys707Phe)

SNV
Germline

Chr1:197421948

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV004800944

NM_201253.3(CRB1):c.2676+2T>G

SNV
Unknown

Chr1:197428003

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV004803859

NM_014714.4(IFT140):c.2776A>T (p.Lys926Ter)

SNV
Germline

Chr16:1525319

Likely pathogenic

Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV004820353

NM_001367823.1(ARHGEF18):c.275+1G>T

SNV
Germline

Chr19:7373072

Likely pathogenic

Retinitis pigmentosa 78

Criteria Provided
Single Submitter

1 SubmittersRCV004821442

NM_033100.4(CDHR1):c.1486G>C (p.Ala496Pro)

SNV
Germline

Chr10:84211648

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV005419812

NM_144596.4(TTC8):c.798+2T>C

SNV
Germline

Chr14:88857279

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV005419820

NM_001142800.2(EYS):c.6191+1G>C

SNV
Germline

Chr6:64306969

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV005419822

NM_032119.4(ADGRV1):c.3795T>A (p.Tyr1265Ter)

SNV
Germline

Chr5:90653369

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV005419842

NM_201253.3(CRB1):c.3311G>A (p.Gly1104Asp)

SNV
Germline

Chr1:197435174

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV005419854

NM_000283.4(PDE6B):c.870G>A (p.Trp290Ter)

SNV
Germline

Chr4:654097

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV005417470

NM_006269.2(RP1):c.5032C>T (p.Gln1678Ter)

SNV
Germline

Chr8:54628914

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV005417476

NM_014249.4(NR2E3):c.1112T>G (p.Leu371Trp)

SNV
Germline

Chr15:71817563

Likely pathogenic

Retinitis pigmentosa 37
Enhanced S-cone syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005003153

NM_206933.4(USH2A):c.4988-1G>C

SNV
Germline

Chr1:216084878

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005014136

NM_206933.4(USH2A):c.4987G>T (p.Glu1663Ter)

SNV
Germline

Chr1:216086719

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005020008

NM_206933.4(USH2A):c.3518C>A (p.Ser1173Ter)

SNV
Germline

Chr1:216199920

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005020080

NM_206933.4(USH2A):c.2994-1G>C

SNV
Germline

Chr1:216217551

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005007323

NM_031885.5(BBS2):c.472-2A>C

SNV
Germline

Chr16:56510923

Likely pathogenic

Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Single Submitter

1 SubmittersRCV005015641

NM_031885.5(BBS2):c.416G>A (p.Gly139Asp)

SNV
Germline

Chr16:56511214

Likely pathogenic

Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Single Submitter

1 SubmittersRCV005015643

NM_000329.3(RPE65):c.1244-1G>A

SNV
Germline

Chr1:68431377

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Single Submitter

1 SubmittersRCV005029133

NM_014714.4(IFT140):c.1359+1G>C

SNV
Germline

Chr16:1584216

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005019746

NM_014714.4(IFT140):c.1229C>A (p.Ser410Ter)

SNV
Germline

Chr16:1584347

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005013875

NM_014714.4(IFT140):c.1158G>A (p.Trp386Ter)

SNV
Germline

Chr16:1584418

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005019751

NM_014714.4(IFT140):c.1107G>A (p.Trp369Ter)

SNV
Germline

Chr16:1586178

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005013877

NM_014714.4(IFT140):c.996C>G (p.Tyr332Ter)

SNV
Germline

Chr16:1587211

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005019755

NM_014714.4(IFT140):c.909G>A (p.Trp303Ter)

SNV
Germline

Chr16:1587298

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005013880

NM_014714.4(IFT140):c.882C>A (p.Ala294=)

SNV
Germline

Chr16:1587953

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005013881 RCV005061872

NM_014714.4(IFT140):c.810+1G>A

SNV
Germline

Chr16:1589604

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005019758

NM_014714.4(IFT140):c.390G>A (p.Trp130Ter)

SNV
Germline

Chr16:1592568

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005019767

NM_014714.4(IFT140):c.370-2A>T

SNV
Germline

Chr16:1592590

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005019768

NM_014714.4(IFT140):c.332G>A (p.Trp111Ter)

SNV
Germline

Chr16:1602407

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005019770

NM_014714.4(IFT140):c.175G>T (p.Glu59Ter)

SNV
Germline

Chr16:1602564

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005019774

NM_014714.4(IFT140):c.74C>G (p.Pro25Arg)

SNV
Germline

Chr16:1607193

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005019777 RCV005112607

NM_206933.4(USH2A):c.10586-1G>A

SNV
Germline

Chr1:215782197

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005019808

NM_206933.4(USH2A):c.10182+2T>G

SNV
Germline

Chr1:215790057

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005013924

NM_206933.4(USH2A):c.9055+2T>A

SNV
Germline

Chr1:215845822

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005019848

NM_206933.4(USH2A):c.8681G>T (p.Arg2894Met)

SNV
Germline

Chr1:215877758

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005019867

NM_201253.3(CRB1):c.2816G>A (p.Cys939Tyr)

SNV
Germline

Chr1:197429588

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005007011 RCV005223164

NM_201253.3(CRB1):c.4182G>A (p.Trp1394Ter)

SNV
Germline

Chr1:197477840

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005007140

NM_001102564.3(IFT43):c.20T>A (p.Leu7Ter)

SNV
Germline

Chr14:75985806

Likely pathogenic

Retinitis pigmentosa 81
Short-rib thoracic dysplasia 18 with polydactyly
Cranioectodermal dysplasia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005005708

NM_001102564.3(IFT43):c.164T>A (p.Leu55Ter)

SNV
Germline

Chr14:76022343

Likely pathogenic

Retinitis pigmentosa 81
Short-rib thoracic dysplasia 18 with polydactyly
Cranioectodermal dysplasia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009279

NM_001102564.3(IFT43):c.175C>T (p.Arg59Ter)

SNV
Germline

Chr14:76022354

Likely pathogenic

Retinitis pigmentosa 81
Short-rib thoracic dysplasia 18 with polydactyly
Cranioectodermal dysplasia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009280

NM_001102564.3(IFT43):c.368+1G>A

SNV
Germline

Chr14:76082368

Likely pathogenic

Retinitis pigmentosa 81
Short-rib thoracic dysplasia 18 with polydactyly
Cranioectodermal dysplasia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009283

NM_144596.4(TTC8):c.340C>T (p.Gln114Ter)

SNV
Germline

Chr14:88841047

Likely pathogenic

Bardet-Biedl syndrome 8
Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV005009358

NM_144596.4(TTC8):c.580-2A>G

SNV
Germline

Chr14:88843804

Likely pathogenic

Bardet-Biedl syndrome 8
Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV005009364

NM_144596.4(TTC8):c.798+1G>A

SNV
Germline

Chr14:88857278

Likely pathogenic

Bardet-Biedl syndrome 8
Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV005009368

NM_014714.4(IFT140):c.3484C>T (p.Gln1162Ter)

SNV
Germline

Chr16:1520778

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005017668

NM_014714.4(IFT140):c.3454-1G>A

SNV
Germline

Chr16:1520809

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005013816

NM_014714.4(IFT140):c.3222C>G (p.Tyr1074Ter)

SNV
Germline

Chr16:1523876

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005017670

NM_014714.4(IFT140):c.3219C>A (p.Tyr1073Ter)

SNV
Germline

Chr16:1523879

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005013821

NM_206933.4(USH2A):c.15216T>A (p.Tyr5072Ter)

SNV
Germline

Chr1:215634540

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005013808

NM_014714.4(IFT140):c.2882G>A (p.Trp961Ter)

SNV
Germline

Chr16:1524899

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005013826

NM_014714.4(IFT140):c.2864+1G>A

SNV
Germline

Chr16:1525230

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005017671

NM_014714.4(IFT140):c.2638C>T (p.Gln880Ter)

SNV
Germline

Chr16:1526017

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005013828

NM_206933.4(USH2A):c.14969-1G>T

SNV
Germline

Chr1:215639239

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005013819

NM_014714.4(IFT140):c.1770+1G>A

SNV
Germline

Chr16:1568216

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV005017686

NM_014714.4(IFT140):c.1619T>A (p.Leu540Ter)

SNV
Germline

Chr16:1571440

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005019664 RCV005235785

NM_206933.4(USH2A):c.13598C>A (p.Ser4533Ter)

SNV
Germline

Chr1:215674313

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005019700

NM_201548.5(CERKL):c.428T>A (p.Leu143Ter)

SNV
Germline

Chr2:181603890

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV005030644

NM_017739.4(POMGNT1):c.1284+1G>A

SNV
Germline

Chr1:46192517

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

1 SubmittersRCV005018468

NM_001201543.2(FAM161A):c.691G>T (p.Glu231Ter)

SNV
Germline

Chr2:61840313

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

1 SubmittersRCV005026674

NM_001201543.2(FAM161A):c.458C>A (p.Ser153Ter)

SNV
Germline

Chr2:61840546

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

1 SubmittersRCV005026676

NM_201253.3(CRB1):c.1172-1G>A

SNV
Germline

Chr1:197420999

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005006932

NM_201253.3(CRB1):c.2677-2A>G

SNV
Germline

Chr1:197429447

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005006999

NM_206933.4(USH2A):c.1841-1G>T

SNV
Germline

Chr1:216289411

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005007378

NM_206933.4(USH2A):c.1090C>T (p.Gln364Ter)

SNV
Germline

Chr1:216325358

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005022056

NM_001297.5(CNGB1):c.2763C>G (p.Tyr921Ter)

SNV
Germline

Chr16:57903853

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

1 SubmittersRCV005009957

NM_001297.5(CNGB1):c.2433G>A (p.Trp811Ter)

SNV
Germline

Chr16:57911812

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

1 SubmittersRCV005009960

NM_001297.5(CNGB1):c.2305-34G>A

SNV
Germline

Chr16:57913028

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

1 SubmittersRCV005015720

NM_001297.5(CNGB1):c.1958-2A>C

SNV
Germline

Chr16:57917478

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

1 SubmittersRCV005015723

NM_001297.5(CNGB1):c.1373-2A>G

SNV
Germline

Chr16:57931880

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

1 SubmittersRCV005009962

NM_001297.5(CNGB1):c.875-2A>G

SNV
Germline

Chr16:57950542

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

1 SubmittersRCV005009964

NM_001297.5(CNGB1):c.762-2A>C

SNV
Germline

Chr16:57958487

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

1 SubmittersRCV005009965

NM_001297.5(CNGB1):c.700G>T (p.Glu234Ter)

SNV
Germline

Chr16:57959949

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

1 SubmittersRCV005009966

NM_001297.5(CNGB1):c.584-2A>G

SNV
Germline

Chr16:57960067

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

1 SubmittersRCV005015727

NM_001297.5(CNGB1):c.539G>A (p.Trp180Ter)

SNV
Germline

Chr16:57960526

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

1 SubmittersRCV005015728

NM_001297.5(CNGB1):c.381+1G>A

SNV
Germline

Chr16:57962973

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

1 SubmittersRCV005009967

NM_001297.5(CNGB1):c.291-2A>C

SNV
Germline

Chr16:57963066

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

1 SubmittersRCV005009968

NM_015662.3(IFT172):c.4280G>A (p.Trp1427Ter)

SNV
Germline

Chr2:27449325

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005024416

NM_015662.3(IFT172):c.4224+1G>A

SNV
Germline

Chr2:27449498

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005024418

NM_015662.3(IFT172):c.3369T>C (p.Asn1123=)

SNV
Germline

Chr2:27456513

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024432 RCV005223179

NM_015662.3(IFT172):c.2443-1G>C

SNV
Germline

Chr2:27461094

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005020922

NM_015662.3(IFT172):c.2251C>T (p.Gln751Ter)

SNV
Germline

Chr2:27461460

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005020927

NM_015662.3(IFT172):c.2212A>T (p.Lys738Ter)

SNV
Germline

Chr2:27461499

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005024444

NM_015662.3(IFT172):c.1846G>T (p.Glu616Ter)

SNV
Germline

Chr2:27465502

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005024445

NM_015662.3(IFT172):c.1692+1G>A

SNV
Germline

Chr2:27470927

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005020939

NM_015662.3(IFT172):c.1627C>T (p.Arg543Ter)

SNV
Germline

Chr2:27470993

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005020941

NM_015662.3(IFT172):c.1525-2A>G

SNV
Germline

Chr2:27471097

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005024449

NM_015662.3(IFT172):c.184-1G>A

SNV
Germline

Chr2:27485131

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005020962

NM_015662.3(IFT172):c.133G>T (p.Glu45Ter)

SNV
Germline

Chr2:27485410

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005024462

NM_005869.4(CWC27):c.139+2T>C

SNV
Germline

Chr5:64774789

Likely pathogenic

Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005037651

NM_006899.5(IDH3B):c.667A>T (p.Lys223Ter)

SNV
Germline

Chr20:2660364

Likely pathogenic

Retinitis pigmentosa 46

Criteria Provided
Single Submitter

1 SubmittersRCV005026893

NM_006899.5(IDH3B):c.571C>T (p.Arg191Ter)

SNV
Germline

Chr20:2660551

Pathogenic/Likely pathogenic

Retinitis pigmentosa 46
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005026894 RCV005112789

NM_006899.5(IDH3B):c.107C>A (p.Ser36Ter)

SNV
Germline

Chr20:2663935

Likely pathogenic

Retinitis pigmentosa 46

Criteria Provided
Single Submitter

1 SubmittersRCV005032505

NM_174878.3(CLRN1):c.569G>A (p.Trp190Ter)

SNV
Germline

Chr3:150928066

Likely pathogenic

Usher syndrome type 3A
Retinitis pigmentosa 61

Criteria Provided
Single Submitter

1 SubmittersRCV005035046

NM_001378615.1(CC2D2A):c.2339-1G>A

SNV
Germline

Chr4:15553157

Likely pathogenic

COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Single Submitter

1 SubmittersRCV005027280

NM_001378615.1(CC2D2A):c.2686G>T (p.Glu896Ter)

SNV
Germline

Chr4:15557364

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005039003

NM_001378615.1(CC2D2A):c.3784G>T (p.Glu1262Ter)

SNV
Germline

Chr4:15579980

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005039012

NM_001378615.1(CC2D2A):c.4315-1G>T

SNV
Germline

Chr4:15596084

Likely pathogenic

COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Single Submitter

1 SubmittersRCV005039028

NM_001379270.1(CNGA1):c.545+2T>A

SNV
Germline

Chr4:47942039

Likely pathogenic

Retinitis pigmentosa 49

Criteria Provided
Single Submitter

1 SubmittersRCV005039145

NM_001142800.2(EYS):c.7278C>A (p.Tyr2426Ter)

SNV
Germline

Chr6:63806323

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV005033456

NM_001142800.2(EYS):c.6551T>A (p.Leu2184Ter)

SNV
Germline

Chr6:64081876

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV005033458

NM_001142800.2(EYS):c.6189C>A (p.Cys2063Ter)

SNV
Germline

Chr6:64306972

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV005045824

NM_001142800.2(EYS):c.5989G>T (p.Glu1997Ter)

SNV
Germline

Chr6:64388779

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV005033460

NM_001142800.2(EYS):c.5667T>G (p.Tyr1889Ter)

SNV
Germline

Chr6:64439330

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV005045827

NM_001142800.2(EYS):c.5488G>T (p.Glu1830Ter)

SNV
Germline

Chr6:64590379

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV005045828

NM_001142800.2(EYS):c.4628C>A (p.Ser1543Ter)

SNV
Germline

Chr6:64591239

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV005033464

NM_001142800.2(EYS):c.3806T>A (p.Leu1269Ter)

SNV
Germline

Chr6:64593188

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV005033466

NM_001142800.2(EYS):c.2992+1G>T

SNV
Germline

Chr6:64886696

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV005033467

NM_001142800.2(EYS):c.2494C>T (p.Gln832Ter)

SNV
Germline

Chr6:64912631

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV005033468

NM_001142800.2(EYS):c.2024-1G>A

SNV
Germline

Chr6:65057728

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV005045830

NM_001142800.2(EYS):c.979C>T (p.Gln327Ter)

SNV
Germline

Chr6:65405251

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV005045831

NM_152419.3(HGSNAT):c.119-2A>C

SNV
Germline

Chr8:43146946

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

1 SubmittersRCV005041221

NM_000350.3(ABCA4):c.3169G>T (p.Glu1057Ter)

SNV
Germline

Chr1:94043357

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

1 SubmittersRCV005031088

NM_000350.3(ABCA4):c.302+2T>G

SNV
Germline

Chr1:94111436

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

1 SubmittersRCV005031254

NM_001378615.1(CC2D2A):c.979C>T (p.Gln327Ter)

SNV
Germline

Chr4:15515966

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005037496

NM_001378615.1(CC2D2A):c.1359+1G>A

SNV
Germline

Chr4:15527657

Likely pathogenic

COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Single Submitter

1 SubmittersRCV005027212

NM_001378615.1(CC2D2A):c.1363C>T (p.Gln455Ter)

SNV
Germline

Chr4:15528623

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005027213

NM_001378615.1(CC2D2A):c.1705C>T (p.Gln569Ter)

SNV
Germline

Chr4:15537017

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005027220

NM_001378615.1(CC2D2A):c.1938G>A (p.Trp646Ter)

SNV
Germline

Chr4:15538072

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005027226

NM_000440.3(PDE6A):c.2135+1G>A

SNV
Germline

Chr5:149883428

Likely pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

1 SubmittersRCV005035381

NM_000440.3(PDE6A):c.1066-1G>A

SNV
Germline

Chr5:149903696

Likely pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

1 SubmittersRCV005035382

NM_000440.3(PDE6A):c.934G>T (p.Glu312Ter)

SNV
Germline

Chr5:149915007

Likely pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

1 SubmittersRCV005043192

NM_003322.6(TULP1):c.1445G>T (p.Arg482Leu)

SNV
Germline

Chr6:35500031

Likely pathogenic

Leber congenital amaurosis 15
Retinitis pigmentosa 14

Criteria Provided
Single Submitter

1 SubmittersRCV005039725

NM_003322.6(TULP1):c.963T>G (p.Tyr321Ter)

SNV
Germline

Chr6:35506039

Likely pathogenic

Leber congenital amaurosis 15
Retinitis pigmentosa 14

Criteria Provided
Single Submitter

1 SubmittersRCV005039726

NM_003322.6(TULP1):c.822+1G>A

SNV
Germline

Chr6:35509208

Likely pathogenic

Leber congenital amaurosis 15
Retinitis pigmentosa 14

Criteria Provided
Single Submitter

1 SubmittersRCV005039727

NM_000350.3(ABCA4):c.6209C>G (p.Thr2070Arg)

SNV
Germline

Chr1:94001931

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005112815 RCV005030957

NM_000350.3(ABCA4):c.6006-1G>A

SNV
Germline

Chr1:94005583

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

1 SubmittersRCV005030970

NM_000350.3(ABCA4):c.4871G>A (p.Trp1624Ter)

SNV
Germline

Chr1:94021387

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

1 SubmittersRCV005034891

NM_001278293.3(ARL6):c.68T>C (p.Leu23Pro)

SNV
Germline

Chr3:97768175

Likely pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005024897

NM_001278293.3(ARL6):c.480-2A>C

SNV
Germline

Chr3:97791769

Likely pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005024901

NM_003611.3(OFD1):c.1055+1G>T

SNV
Germline

ChrX:13751369

Likely pathogenic

Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

1 SubmittersRCV005049286

NM_003611.3(OFD1):c.1559A>G (p.Gln520Arg)

SNV
Germline

ChrX:13758353

Conflicting classifications of pathogenicity

Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005041624 RCV005448058

NM_003611.3(OFD1):c.1804C>T (p.Arg602Cys)

SNV
Germline

ChrX:13760264

Conflicting classifications of pathogenicity

Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005041629 RCV005218418

NM_001034853.2(RPGR):c.3255C>G (p.Tyr1085Ter)

SNV
Germline

ChrX:38285744

Likely pathogenic

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Macular degeneration, X-linked atrophic
Retinitis pigmentosa 3
X-linked cone-rod dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV005049829

NM_001034853.2(RPGR):c.3151G>T (p.Glu1051Ter)

SNV
Germline

ChrX:38285848

Likely pathogenic

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Macular degeneration, X-linked atrophic
Retinitis pigmentosa 3
X-linked cone-rod dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV005041776

NM_001034853.2(RPGR):c.1506+1G>T

SNV
Germline

ChrX:38291392

Likely pathogenic

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Macular degeneration, X-linked atrophic
Retinitis pigmentosa 3
X-linked cone-rod dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV005041777

NM_006915.3(RP2):c.445C>T (p.Gln149Ter)

SNV
Germline

ChrX:46853818

Pathogenic

Retinitis pigmentosa 2

Criteria Provided
Single Submitter

1 SubmittersRCV005041808

NM_014053.4(FLVCR1):c.382T>A (p.Tyr128Asn)

SNV
Germline

Chr1:212858834

Pathogenic

Posterior column ataxia-retinitis pigmentosa syndrome

No Assertion Criteria Provided

1 SubmittersRCV005051220

NM_000350.3(ABCA4):c.3364G>T (p.Glu1122Ter)

SNV
Germline

Chr1:94041367

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV005088603

NM_000350.3(ABCA4):c.1034A>C (p.Tyr345Ser)

SNV
Germline

Chr1:94080543

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005198034 RCV005254999

NM_205861.3(DHDDS):c.35G>A (p.Trp12Ter)

SNV
Germline

Chr1:26432980

Pathogenic

Retinitis pigmentosa 59

Criteria Provided
Single Submitter

1 SubmittersRCV005196392

NM_015662.3(IFT172):c.570+1G>A

SNV
Germline

Chr2:27483288

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005213899

NM_000329.3(RPE65):c.954T>G (p.Tyr318Ter)

SNV
Germline

Chr1:68438986

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005223665

NM_201253.3(CRB1):c.2083C>T (p.Gln695Ter)

SNV
Germline

Chr1:197421911

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV005219100

NM_000329.3(RPE65):c.1129-1G>A

SNV
Germline

Chr1:68431586

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005215380

NM_201253.3(CRB1):c.586A>T (p.Lys196Ter)

SNV
Germline

Chr1:197328937

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV005213142

NM_000329.3(RPE65):c.1579C>T (p.His527Tyr)

SNV
Germline

Chr1:68429799

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

2 SubmittersRCV005213186 RCV005426447

NM_015662.3(IFT172):c.3634G>T (p.Glu1212Ter)

SNV
Germline

Chr2:27454059

Pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005212288

NM_015662.3(IFT172):c.410T>G (p.Leu137Ter)

SNV
Germline

Chr2:27483652

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005216366

NM_015662.3(IFT172):c.1221+1G>A

SNV
Germline

Chr2:27477558

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005219881

NM_015662.3(IFT172):c.1222-1G>A

SNV
Germline

Chr2:27477321

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005219882

NM_201253.3(CRB1):c.1236T>A (p.Cys412Ter)

SNV
Germline

Chr1:197421064

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV005226114

NM_015662.3(IFT172):c.1167+1G>A

SNV
Germline

Chr2:27477994

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005226219

NM_201253.3(CRB1):c.4130G>A (p.Gly1377Glu)

SNV
Germline

Chr1:197477788

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005222573 RCV005407423

NM_201253.3(CRB1):c.3822C>A (p.Cys1274Ter)

SNV
Germline

Chr1:197438619

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV005222281

NM_014053.4(FLVCR1):c.596T>C (p.Leu199Pro)

SNV
Germline

Chr1:212859048

Likely pathogenic

Posterior column ataxia-retinitis pigmentosa syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005235857

NM_001354768.3(NRL):c.152C>G (p.Pro51Arg)

SNV
Germline

Chr14:24082697

Likely pathogenic

Retinitis pigmentosa 27

Criteria Provided
Single Submitter

1 SubmittersRCV005235865

NM_015629.4(PRPF31):c.1305T>G (p.Tyr435Ter)

SNV
Germline

Chr19:54129301

Likely pathogenic

Retinitis pigmentosa 11

Criteria Provided
Single Submitter

1 SubmittersRCV005235872

NM_201253.3(CRB1):c.568T>C (p.Cys190Arg)

SNV
Germline

Chr1:197328919

Likely pathogenic

Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV005235880

NM_206933.4(USH2A):c.12066+1G>C

SNV
Germline

Chr1:215728029

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV005235881

NM_001142800.2(EYS):c.5086G>T (p.Glu1696Ter)

SNV
Germline

Chr6:64590781

Pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV005235902

NM_001142800.2(EYS):c.8072-1G>A

SNV
Germline

Chr6:63726681

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV005235906

NM_001379270.1(CNGA1):c.800G>C (p.Arg267Thr)

SNV
Germline

Chr4:47937682

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV005235911

NM_001297.5(CNGB1):c.1035-6A>G

SNV
Germline

Chr16:57949445

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

1 SubmittersRCV005251599

NM_000283.4(PDE6B):c.869G>A (p.Trp290Ter)

SNV
Germline

Chr4:654096

Pathogenic

Retinitis pigmentosa 40

Criteria Provided
Single Submitter

1 SubmittersRCV005252269

NM_000283.4(PDE6B):c.2068C>T (p.Gln690Ter)

SNV
Germline

Chr4:664160

Likely pathogenic

Retinitis pigmentosa 40

Criteria Provided
Single Submitter

1 SubmittersRCV005252374

NM_006269.2(RP1):c.5665C>T (p.Gln1889Ter)

SNV
Germline

Chr8:54629547

Likely pathogenic

Retinitis pigmentosa 1

Criteria Provided
Single Submitter

1 SubmittersRCV005252429

NM_006269.2(RP1):c.2143C>T (p.Gln715Ter)

SNV
Germline

Chr8:54626025

Likely pathogenic

Retinitis pigmentosa 1

Criteria Provided
Single Submitter

1 SubmittersRCV005252451

NM_024741.3(ZNF408):c.331-2A>G

SNV
Germline

Chr11:46702702

Pathogenic

Retinitis pigmentosa 72

Criteria Provided
Single Submitter

1 SubmittersRCV005252512

NM_000350.3(ABCA4):c.67-2A>T

SNV
Germline

Chr1:94113068

Pathogenic

Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

1 SubmittersRCV005253150

NM_000350.3(ABCA4):c.1239+1G>T

SNV
Germline

Chr1:94079321

Likely pathogenic

Retinitis pigmentosa 19

Criteria Provided
Single Submitter

1 SubmittersRCV005253196

NM_015662.3(IFT172):c.307A>T (p.Lys103Ter)

SNV
Germline

Chr2:27484256

Likely pathogenic

Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005253199

NM_201548.5(CERKL):c.820+1G>T

SNV
Germline

Chr2:181558565

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV005253241

NM_006915.3(RP2):c.412G>T (p.Glu138Ter)

SNV
Germline

ChrX:46853785

Likely pathogenic

Retinitis pigmentosa 2

Criteria Provided
Single Submitter

1 SubmittersRCV005253243

NM_006269.2(RP1):c.1157C>G (p.Ser386Ter)

SNV
Germline

Chr8:54625039

Likely pathogenic

Retinitis pigmentosa 1

Criteria Provided
Single Submitter

1 SubmittersRCV005253350

NM_001329556.3(REEP6):c.518-2A>T

SNV
Germline

Chr19:1496589

Pathogenic

Retinitis pigmentosa 77

Criteria Provided
Single Submitter

1 SubmittersRCV005253505

NM_006017.3(PROM1):c.1356C>A (p.Tyr452Ter)

SNV
Germline

Chr4:16006636

Likely pathogenic

Retinitis pigmentosa 41

Criteria Provided
Single Submitter

1 SubmittersRCV005253562

NM_178857.6(RP1L1):c.2123C>A (p.Ser708Ter)

SNV
Germline

Chr8:10611975

Likely pathogenic

Retinitis pigmentosa 88

Criteria Provided
Single Submitter

1 SubmittersRCV005253571

NM_001034853.2(RPGR):c.29-2A>C

SNV
Germline

ChrX:38323526

Likely pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

1 SubmittersRCV005253595

NM_003322.6(TULP1):c.1112+1G>C

SNV
Germline

Chr6:35505740

Likely pathogenic

Retinitis pigmentosa 14

Criteria Provided
Single Submitter

1 SubmittersRCV005254209

NM_006915.3(RP2):c.768+1G>T

SNV
Germline

ChrX:46854142

Likely pathogenic

Retinitis pigmentosa 2

Criteria Provided
Single Submitter

1 SubmittersRCV005254213

NM_006269.2(RP1):c.616-2A>G

SNV
Germline

Chr8:54622115

Likely pathogenic

Retinitis pigmentosa 1

Criteria Provided
Single Submitter

1 SubmittersRCV005254220

NM_005869.4(CWC27):c.397-2A>C

SNV
Germline

Chr5:64785479

Likely pathogenic

Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005360389

NM_000329.3(RPE65):c.864G>A (p.Trp288Ter)

SNV
Germline

Chr1:68439076

Likely pathogenic

Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005393730

NM_014053.4(FLVCR1):c.1441C>T (p.Gln481Ter)

SNV
Unknown

Chr1:212889173

Likely pathogenic

Posterior column ataxia-retinitis pigmentosa syndrome
Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia

Criteria Provided
Single Submitter

1 SubmittersRCV005402340

NM_000283.4(PDE6B):c.669T>A (p.Tyr223Ter)

SNV
Germline

Chr4:635927

Pathogenic

Retinitis pigmentosa 40

Criteria Provided
Single Submitter

1 SubmittersRCV005604821

NM_205861.3(DHDDS):c.124A>T (p.Lys42Ter)

SNV
Germline

Chr1:26438228

Likely pathogenic

Retinitis pigmentosa 59

No Assertion Criteria Provided

1 SubmittersRCV005619205

NM_001142800.2(EYS):c.8861T>C (p.Phe2954Ser)

SNV
Germline

Chr6:63721170

Likely pathogenic

Retinitis pigmentosa 25

No Assertion Criteria Provided

1 SubmittersRCV005619418

NM_001142800.2(EYS):c.7050C>A (p.Cys2350Ter)

SNV
Germline

Chr6:63984388

Likely pathogenic

Retinitis pigmentosa 25

No Assertion Criteria Provided

1 SubmittersRCV005619434

NM_001142800.2(EYS):c.2581A>T (p.Arg861Ter)

SNV
Germline

Chr6:64912544

Likely pathogenic

Retinitis pigmentosa 25

No Assertion Criteria Provided

1 SubmittersRCV005619524

NM_001142800.2(EYS):c.7014G>A (p.Trp2338Ter)

SNV
Germline

Chr6:63984424

Likely pathogenic

Retinitis pigmentosa 25

No Assertion Criteria Provided

1 SubmittersRCV005619561

NM_001142800.2(EYS):c.1933G>T (p.Glu645Ter)

SNV
Germline

Chr6:65295953

Likely pathogenic

Retinitis pigmentosa 25

No Assertion Criteria Provided

1 SubmittersRCV005619578

NM_001201543.2(FAM161A):c.1648C>T (p.Gln550Ter)

SNV
Germline

Chr2:61838641

Likely pathogenic

Retinitis pigmentosa 28

No Assertion Criteria Provided

1 SubmittersRCV005619743