Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter)	SNV Germline	Chr2:61840319	Pathogenic	Retinitis pigmentosa 28 Retinal dystrophy Condition: not provided Autosomal recessive retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA251355	rs_267606794	9 SubmittersRCV000000052 RCV001074032 RCV001090971 RCV001257835
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)	SNV Germline	Chr2:61839695	Pathogenic	Retinitis pigmentosa 28 Condition: not provided Cone-rod dystrophy Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA233978	rs_200691042	21 SubmittersRCV000000053 RCV000153226 RCV000678572 RCV000778621 RCV000787604
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	15 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		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	5 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	14 SubmittersRCV000000568 RCV000593252 RCV001075385 RCV001723527 RCV003914789
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)	SNV Germline	Chr4:15563485	Pathogenic	COACH syndrome 2 Joubert syndrome 9/15, digenic Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided See cases Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9 Meckel syndrome, type 6	Criteria Provided Multiple Submitters No Conflicts	CA129544	rs_386833750	6 SubmittersRCV000000783 RCV000023922 RCV000199602 RCV000578695 RCV002251848 RCV002476904
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	Retinitis pigmentosa 42 Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA221427	rs_137853113	9 SubmittersRCV000001064 RCV000079374 RCV001003071 RCV001073803
NM_001031710.3(KLHL7):c.457G>A (p.Ala153Thr)	SNV Germline	Chr7:23140783	Pathogenic	Retinitis pigmentosa 42	No Assertion Criteria Provided	CA251666	rs_137853114	1 SubmittersRCV000001065
NM_152419.3(HGSNAT):c.493+1G>A	SNV Germline	Chr8:43159045	Pathogenic	Mucopolysaccharidosis, MPS-III-C Mucopolysaccharidosis, MPS-III-C Retinitis pigmentosa 73 Sanfilippo syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA114861	rs_193066451	7 SubmittersRCV000001289 RCV000763183 RCV000780343 RCV002512639
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)	SNV Germline	Chr8:43173740	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-III-C Condition: not provided Mucopolysaccharidosis, MPS-III-C Retinitis pigmentosa 73 Retinal dystrophy Sanfilippo syndrome	Criteria Provided Multiple Submitters No Conflicts	CA114863	rs_121908282	8 SubmittersRCV000001291 RCV000512873 RCV000763184 RCV000504894 RCV003330379
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)	SNV Germline	Chr8:43193824	Likely pathogenic	Mucopolysaccharidosis, MPS-III-C Retinitis pigmentosa 73 Mucopolysaccharidosis, MPS-III-C Sanfilippo syndrome	Criteria Provided Multiple Submitters No Conflicts	CA114867	rs_121908284	3 SubmittersRCV000001293 RCV001378638 RCV003323346
NM_152419.3(HGSNAT):c.372-2A>G	SNV Germline	Chr8:43158921	Pathogenic	Mucopolysaccharidosis, MPS-III-C Sanfilippo syndrome Retinitis pigmentosa 73 Mucopolysaccharidosis, MPS-III-C	Criteria Provided Multiple Submitters No Conflicts	CA114870	rs_483352896	6 SubmittersRCV000001295 RCV000586364 RCV001067306
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)	SNV Germline	Chr8:43182162	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-III-C Condition: not provided Sanfilippo syndrome Retinal dystrophy Mucopolysaccharidosis, MPS-III-C Retinitis pigmentosa 73 Mucopolysaccharidosis	Criteria Provided Conflicting Classifications	CA114871	rs_121908285	12 SubmittersRCV000001296 RCV001699017 RCV003114169 RCV003887846 RCV000799182 RCV001030801
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 Meckel-Gruber syndrome Condition: not provided Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Retinitis pigmentosa Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 COG7 congenital disorder of glycosylation Abnormality of the nervous system Retinal dystrophy Meckel syndrome, type 6 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150917	rs_137852832	27 SubmittersRCV000001396 RCV000114202 RCV000086298 RCV000515339 RCV001000092 RCV001002714 RCV000787813 RCV000531295 RCV001542773 RCV001836689 RCV001815157 RCV001836688 RCV001073790 RCV001261607 RCV001276487 RCV003147273
NM_025114.4(CEP290):c.2991+1655A>G	SNV Germline	Chr12:88101183	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 1 Retinitis pigmentosa Joubert syndrome 5 Retinal dystrophy Intellectual disability CEP290-related disorder Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227965	rs_281865192	24 SubmittersRCV000001400 RCV000086286 RCV000558460 RCV000763315 RCV000988884 RCV000678535 RCV001196010 RCV001075828 RCV001255341 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	8 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	Criteria Provided Conflicting Classifications	CA234554	rs_76024428	10 SubmittersRCV000002071 RCV000153697 RCV000512878 RCV000787861 RCV003934792
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	Criteria Provided Single Submitter	CA252067	rs_104893678	3 SubmittersRCV000002120 RCV001002871 RCV002512667
NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)	SNV Germline	Chr3:97791797	Pathogenic	Bardet-Biedl syndrome 1, modifier of Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 3 Retinitis pigmentosa 55	Criteria Provided Single Submitter	CA115313	rs_104893679	2 SubmittersRCV000002122 RCV000002121 RCV002512668
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)	SNV Germline	Chr3:97768199	Pathogenic	Bardet-Biedl syndrome 3 Retinitis pigmentosa Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252069	rs_104893680	4 SubmittersRCV000002123 RCV001723532 RCV001851573 RCV003133114
NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)	SNV Germline	Chr3:97768199	Pathogenic	Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 3 Retinitis pigmentosa 55	Criteria Provided Single Submitter	CA252073	rs_104893680	2 SubmittersRCV000002125 RCV001063683
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	Criteria Provided Multiple Submitters No Conflicts	CA252083	rs_104894474	6 SubmittersRCV000002132 RCV000787672 RCV001091054
NM_152443.3(RDH12):c.451C>G (p.His151Asp)	SNV Germline	Chr14:67726983	Pathogenic	Leber congenital amaurosis 13 Retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252087	rs_104894475	6 SubmittersRCV000002135 RCV000787674 RCV001171675
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	17 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	Conflicting classifications of pathogenicity	Retinitis pigmentosa 53 Retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis 13 Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA115315	rs_202126574	9 SubmittersRCV000002142 RCV000132691 RCV001073666 RCV001223788 RCV003155010 RCV001558134
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)	SNV Germline	Chr8:10623069	Conflicting classifications of pathogenicity	Occult macular dystrophy Condition: not provided Retinal dystrophy Retinitis pigmentosa 88	Criteria Provided Conflicting Classifications	CA115397	rs_267607017	15 SubmittersRCV000002277 RCV000726920 RCV001074376 RCV001197672
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	Reviewed By Expert Panel	CA252231	rs_121912599	10 SubmittersRCV000002449 RCV000303941 RCV001004780 RCV001074393 RCV000824798 RCV003460406
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	SNV Germline	Chr1:216247118	Pathogenic	Retinitis pigmentosa 39 Retinitis pigmentosa Usher syndrome type 2A USH2A-related disorder Condition: not provided Inborn genetic diseases Retinal dystrophy Usher syndrome Retinitis pigmentosa 39 Usher syndrome type 2A Ear malformation See cases Autosomal recessive retinitis pigmentosa	Reviewed By Expert Panel	CA252233	rs_80338902	45 SubmittersRCV000002450 RCV000032523 RCV000174625 RCV000404009 RCV000239000 RCV000623925 RCV000504814 RCV000505146 RCV001535506 RCV001813938 RCV002251859 RCV001257905
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	SNV Germline	Chr1:215728232	Pathogenic	Usher syndrome type 2A Hearing impairment Congenital sensorineural hearing impairment Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 39 Usher syndrome Rare genetic deafness Usher syndrome type 2 Retinal dystrophy USH2A-related disorder Usher syndrome Retinitis pigmentosa 39 Usher syndrome type 2A See cases Usher syndrome type 3A	Criteria Provided Multiple Submitters No Conflicts	CA252235	rs_111033364	32 SubmittersRCV000002451 RCV000414867 RCV000415089 RCV000414231 RCV000504922 RCV000412373 RCV000824781 RCV001003260 RCV001074873 RCV001813732 RCV003114173 RCV002476913 RCV004584307 RCV003314546
NM_206933.4(USH2A):c.949C>A (p.Arg317=)	SNV Germline	Chr1:216325499	Pathogenic	Usher syndrome type 2A Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Rare genetic deafness Retinitis pigmentosa 39 Retinal dystrophy Retinal pigment epithelial atrophy Rod-cone dystrophy Abnormal macular morphology Blindness Pigmentary retinopathy Usher syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA252237	rs_111033272	17 SubmittersRCV000002452 RCV000412796 RCV000763297 RCV000824799 RCV000984234 RCV001075725 RCV000627017 RCV001199595
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	SNV Germline	Chr1:216324240	Pathogenic	Usher syndrome type 2A Usher syndrome Condition: not provided Retinitis pigmentosa 39 Rare genetic deafness Retinal dystrophy USH2A-related disorder Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA252239	rs_121912600	22 SubmittersRCV000002453 RCV000504809 RCV000224697 RCV000984315 RCV000824795 RCV001074823 RCV000778222 RCV002482817
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)	SNV Germline	Chr1:216247185	Pathogenic	Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Rare genetic deafness Usher syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA252242	rs_111033334	12 SubmittersRCV000002457 RCV000002456 RCV000725261 RCV000824794 RCV001003279
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 Retinal dystrophy Retinal pigment epithelial atrophy Cone dystrophy Cone-rod dystrophy Condition: not provided Retinitis pigmentosa See cases CERKL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252246	rs_121909398	27 SubmittersRCV000002460 RCV000504807 RCV000626731 RCV000678538 RCV000725950 RCV000504646 RCV002251860 RCV003407259
NM_144596.4(TTC8):c.489G>A (p.Thr163=)	SNV Germline	Chr14:88841196	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 8 Postaxial foot polydactyly Truncal obesity Intellectual disability, moderate Bardet-Biedl syndrome Retinitis pigmentosa 51 Retinal dystrophy TTC8-related disorder	Criteria Provided Conflicting Classifications	CA339995	rs_119103286	10 SubmittersRCV000002639 RCV000415339 RCV000203928 RCV001197566 RCV001074706 RCV003415630
NM_144596.4(TTC8):c.115-2A>G	SNV Germline	Chr14:88833691	Pathogenic	Retinitis pigmentosa 51	No Assertion Criteria Provided	CA339998	rs_587777809	1 SubmittersRCV000002641
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter)	SNV Germline	Chr11:61956960	Pathogenic	Autosomal recessive bestrophinopathy Condition: not provided Retinitis pigmentosa 50 Autosomal dominant vitreoretinochoroidopathy Autosomal recessive bestrophinopathy Vitelliform macular dystrophy 2	Criteria Provided Multiple Submitters No Conflicts	CA115725	rs_121918286	3 SubmittersRCV000002864 RCV001202565 RCV002490299
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 Retinal dystrophy Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA115732	rs_267606676	7 SubmittersRCV000002871 RCV001073474 RCV000417725 RCV000787545
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	Conflicting classifications of pathogenicity	Retinitis pigmentosa 18 Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA252736	rs_121434241	7 SubmittersRCV000003516 RCV000726757 RCV001003129 RCV001074785
NM_004698.4(PRPF3):c.1477C>T (p.Pro493Ser)	SNV Germline	Chr1:150344212	Pathogenic	Retinitis pigmentosa 18 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252737	rs_121434242	3 SubmittersRCV000003517 RCV001565464
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 Condition: not provided Macular dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252815	rs_267606875	4 SubmittersRCV000003727 RCV001053603 RCV000787843 RCV003887852
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu)	SNV Germline	Chr3:101304277	Pathogenic	Vitelliform macular dystrophy 5 Condition: not provided Retinitis pigmentosa	Criteria Provided Single Submitter	CA116343	rs_201893545	3 SubmittersRCV000003728 RCV001053107 RCV001003057
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	SNV Germline	Chr1:46192397	Pathogenic/Likely pathogenic	Condition: not provided Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 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 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy	Criteria Provided Multiple Submitters No Conflicts	CA116547	rs_28940869	10 SubmittersRCV000150001 RCV000984210 RCV000984301 RCV000984302 RCV001219572 RCV000984303 RCV001847573 RCV002222337 RCV002512738
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	Criteria Provided Multiple Submitters No Conflicts	CA116550	rs_193919337	6 SubmittersRCV000240891 RCV001529546 RCV001390610 RCV001847575 RCV004566681
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 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Congenital Muscular Dystrophy, alpha-dystroglycan related Retinitis pigmentosa 76	Criteria Provided Conflicting Classifications	CA116557	rs_74374973	14 SubmittersRCV000004204 RCV000081801 RCV000671438 RCV000710195 RCV001082774 RCV001579237 RCV001449938 RCV001097781 RCV001579238
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 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 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 POMGNT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116564	rs_267606960	11 SubmittersRCV000004207 RCV000411094 RCV000798530 RCV001091843 RCV002476922 RCV002512742 RCV003460424 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 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA253135	rs_587776590	4 SubmittersRCV000004608 RCV001851647 RCV001073395
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 Retinitis pigmentosa 61 Retinitis pigmentosa Usher syndrome type 3A Rare genetic deafness Retinitis pigmentosa 61 Hearing impairment Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA000001	rs_121908140	15 SubmittersRCV000004642 RCV000724158 RCV002496258 RCV000844623 RCV003466811 RCV001375084 RCV002247246
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 Rare genetic deafness Retinitis pigmentosa Condition: not provided Usher syndrome type 3A Retinitis pigmentosa 61 CLRN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116834	rs_111033267	11 SubmittersRCV000004647 RCV000844690 RCV000505037 RCV001384937 RCV001376502 RCV003466814 RCV003407275
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)	SNV Germline	Chr3:150972591	Conflicting classifications of pathogenicity	Usher syndrome type 3 Retinal dystrophy Condition: not provided Usher syndrome Usher syndrome type 3A Retinitis pigmentosa 61	Criteria Provided Conflicting Classifications	CA116839	rs_121908143	12 SubmittersRCV000004649 RCV001075346 RCV000414238 RCV002468960 RCV001273484 RCV003466815
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)	SNV Germline	Chr20:3918695	Pathogenic	Pigmentary pallidal degeneration Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Inborn genetic diseases Condition: not provided Retinitis pigmentosa Pigmentary pallidal degeneration Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	Criteria Provided Multiple Submitters No Conflicts	CA116915	rs_137852959	17 SubmittersRCV000004807 RCV000132732 RCV000190815 RCV000224470 RCV001588799 RCV002496261
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 Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa 74 Bardet-Biedl syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA116926	rs_121908175	10 SubmittersRCV000004832 RCV000412476 RCV000589350 RCV000787792 RCV001074960 RCV000762970
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)	SNV Germline	Chr16:56514623	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome Condition: not provided Retinitis pigmentosa 74 Bardet-Biedl syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA253235	rs_121908176	9 SubmittersRCV000004833 RCV000587533 RCV003441704 RCV002490314
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 Retinal dystrophy Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 BBS2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253237	rs_121908177	15 SubmittersRCV000004834 RCV000269226 RCV000493074 RCV001074104 RCV000762967 RCV002466394 RCV004528072
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)	SNV Germline	Chr16:56502454	Pathogenic	Bardet-biedl syndrome 2/4, digenic Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Autosomal recessive retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116928	rs_121908178	7 SubmittersRCV000004835 RCV001226053 RCV000675099 RCV001257834 RCV003887853
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	SNV Germline	Chr16:56514487	Pathogenic	Bardet-biedl syndrome 1/2, digenic Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome Retinitis pigmentosa Condition: not provided BBS2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116932	rs_121908179	11 SubmittersRCV000004839 RCV000190985 RCV000665304 RCV000762969 RCV000587645 RCV001002876 RCV001582466 RCV004532290
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 Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA060272	rs_138043021	15 SubmittersRCV000004840 RCV000380902 RCV000190986 RCV001002874 RCV001073916 RCV000589221 RCV001268711 RCV002490315 RCV002512776
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 Condition: not provided Autosomal recessive retinitis pigmentosa Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA253474	rs_119489105	4 SubmittersRCV000005733 RCV001054980 RCV001257901 RCV001723542
NM_006343.3(MERTK):c.2189+1G>T	SNV Germline	Chr2:112019523	Pathogenic	Retinitis pigmentosa 38 Inborn genetic diseases Retinal dystrophy Condition: not provided Autosomal recessive retinitis pigmentosa Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA253476	rs_371956016	9 SubmittersRCV000005734 RCV000624145 RCV001073654 RCV001208965 RCV001257903 RCV003324483
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)	SNV Germline	Chr15:71811590	Pathogenic/Likely pathogenic	Enhanced S-cone syndrome Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA117571	rs_104894492	6 SubmittersRCV000005866 RCV001048873 RCV003323352 RCV003887854
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)	SNV Germline	Chr15:71811591	Conflicting classifications of pathogenicity	Enhanced S-cone syndrome NR2E3-related disorder Retinitis pigmentosa 37 Enhanced S-cone syndrome Condition: not provided Goldmann-Favre syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA117573	rs_104894493	16 SubmittersRCV000005867 RCV000261496 RCV000668029 RCV001045323 RCV001449793 RCV001075864
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	SNV Germline	Chr15:71813573	Conflicting classifications of pathogenicity	Enhanced S-cone syndrome Goldmann-Favre syndrome Condition: not provided NR2E3-related disorder Retinitis pigmentosa 37 Enhanced S-cone syndrome Retinal dystrophy NR2E3-related disorder Enhanced S-cone syndrome Retinitis pigmentosa Retinitis pigmentosa 37 Autosomal recessive retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA117575	rs_28937873	23 SubmittersRCV000005869 RCV000005870 RCV000171240 RCV000393548 RCV000668086 RCV001074891 RCV001095701 RCV000787633 RCV001374877 RCV001257807
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)	SNV Germline	Chr15:71811530	Pathogenic/Likely pathogenic	Retinitis pigmentosa 37 Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA253522	rs_121912631	11 SubmittersRCV000005871 RCV000286602 RCV000787628 RCV001075751
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)	SNV Germline	Chr17:6425781	Pathogenic	Leber congenital amaurosis 4 Condition: not provided Leber congenital amaurosis AIPL1-related disorder Retinal dystrophy Retinitis pigmentosa Leber congenital amaurosis 4	Criteria Provided Multiple Submitters No Conflicts	CA227899	rs_62637014	23 SubmittersRCV000005906 RCV000086235 RCV000505017 RCV000365317 RCV001074840 RCV002496274
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter)	SNV Germline	Chr4:15994028	Pathogenic	Retinitis pigmentosa 41 Retinal dystrophy Retinitis pigmentosa	No Assertion Criteria Provided	CA253536	rs_137853005	3 SubmittersRCV000005959 RCV000210292 RCV000504792
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	SNV Germline	Chr4:16013299	Pathogenic	Stargardt disease 4 Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Condition: not provided Retinal dystrophy Stargardt disease Macular dystrophy Cone-rod dystrophy 12 Retinitis pigmentosa 41 Stargardt disease 4 Retinal macular dystrophy type 2 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA117645	rs_137853006	16 SubmittersRCV000005960 RCV000005961 RCV000005962 RCV000479499 RCV000504765 RCV000787648 RCV000787649 RCV002496275 RCV001723543
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)	SNV Germline	Chr1:197434985	Pathogenic	Retinitis pigmentosa 12 Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinal dystrophy Pigmented paravenous retinochoroidal atrophy CRB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA228031	rs_62635656	8 SubmittersRCV000006084 RCV000086336 RCV001045972 RCV001250615 RCV001075294 RCV003450614 RCV004528086
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 Macular dystrophy Retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy CRB1-related maculopathy Retinitis pigmentosa-deafness syndrome Pigmented paravenous retinochoroidal atrophy CRB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA228006	rs_62635654	22 SubmittersRCV000006086 RCV000086317 RCV000656137 RCV000787577 RCV001074882 RCV001052374 RCV001250604 RCV002496279 RCV001352991 RCV003447471 RCV003450615 RCV004540990
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	SNV Germline	Chr1:197427559	Pathogenic/Likely pathogenic	Retinitis pigmentosa 12 Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinal dystrophy Pigmented paravenous retinochoroidal atrophy Autosomal recessive retinitis pigmentosa Leber congenital amaurosis 8 Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy	Criteria Provided Multiple Submitters No Conflicts	CA228003	rs_28939720	22 SubmittersRCV000006087 RCV000086315 RCV000787576 RCV000809110 RCV001074789 RCV001196030 RCV001257864 RCV001250601 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 Retinitis pigmentosa Retinal dystrophy Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis Leber congenital amaurosis 8 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy	Criteria Provided Multiple Submitters No Conflicts	CA203531	rs_137853137	14 SubmittersRCV000006090 RCV000787578 RCV000787826 RCV000578757 RCV000691427 RCV001275651 RCV001250606 RCV002504753 RCV003450616
NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg)	SNV Germline	Chr1:197435404	Pathogenic	Retinitis pigmentosa 12 Condition: not provided	No Assertion Criteria Provided	CA228041	rs_62636291	2 SubmittersRCV000006091 RCV000086346
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 Early-onset retinal dystrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis Pigmented paravenous retinochoroidal atrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA117711	rs_62636275	14 SubmittersRCV000006093 RCV000006094 RCV000086341 RCV000786009 RCV000648818 RCV001002998 RCV003450617 RCV001073404
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)	SNV Germline	Chr8:54625911	Pathogenic	Retinitis pigmentosa 1 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA253665	rs_104894082	11 SubmittersRCV000006329 RCV000255140 RCV001074787
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	Retinitis pigmentosa 14 Condition: not provided	Criteria Provided Single Submitter	CA227700	rs_121909073	3 SubmittersRCV000007782 RCV000086066
NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys)	SNV Germline	Chr6:35500100	Likely pathogenic	Retinitis pigmentosa 14 Condition: not provided	Criteria Provided Single Submitter	CA254155	rs_121909075	2 SubmittersRCV000007784 RCV002512878
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)	SNV Germline	Chr6:35503816	Pathogenic	Retinitis pigmentosa 14 Retinitis pigmentosa Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254156	rs_121909076	4 SubmittersRCV000007787 RCV000132649 RCV003887856 RCV002512879
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp)	SNV Germline	Chr6:35500032	Conflicting classifications of pathogenicity	Retinitis pigmentosa 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA254157	rs_121909077	3 SubmittersRCV000007788 RCV001386009
NM_003322.6(TULP1):c.718+2T>C	SNV Germline	Chr6:35509632	Pathogenic	Retinitis pigmentosa 14 Condition: not provided	Criteria Provided Single Submitter		rs_1581742970	2 SubmittersRCV000007790 RCV003555962
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg)	SNV Germline	Chr6:42185686	Conflicting classifications of pathogenicity	Retinitis pigmentosa 48 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA232839	rs_121909124	6 SubmittersRCV000007794 RCV000343566 RCV000132648 RCV003887857
NM_000554.6(CRX):c.121C>T (p.Arg41Trp)	SNV Germline	Chr19:47836263	Pathogenic	Cone-rod dystrophy 2 Condition: not provided Retinal dystrophy Cone-rod dystrophy 2 Leber congenital amaurosis 7 Cone-rod dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA118790	rs_104894672	11 SubmittersRCV000007843 RCV000085989 RCV001073396 RCV001386169 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 Phytanic acid storage disease Retinitis pigmentosa Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA118904	rs_104894178	14 SubmittersRCV000008018 RCV000255609 RCV000665657 RCV000505105 RCV002426496
NM_006214.4(PHYH):c.135-2A>G	SNV Germline	Chr10:13295608	Pathogenic	Refsum disease, adult, 1 Condition: not provided Phytanic acid storage disease Retinitis pigmentosa PHYH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA212871	rs_201578674	10 SubmittersRCV000008019 RCV000599568 RCV000660487 RCV001723551 RCV003407301
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	SNV Germline	Chr1:94051698	Pathogenic/Likely pathogenic/Pathogenic, low penetrance	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Condition: not provided Inborn genetic diseases Peripheral neuropathy Abnormal macular morphology Retinitis pigmentosa Retinal dystrophy Stargardt disease Age related macular degeneration 2 Cone-rod dystrophy Cone-rod dystrophy 3 Age-related macular degeneration Retinitis pigmentosa 19 ABCA4-related disorder Stargardt disease 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA119128	rs_76157638	32 SubmittersRCV000008328 RCV000008329 RCV000085494 RCV000623365 RCV000415097 RCV000787487 RCV000505063 RCV000787486 RCV001198385 RCV000787768 RCV001535670 RCV004532312 RCV004558239 RCV003224856
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 Retinal dystrophy Stargardt disease not specified Retinitis pigmentosa 19	Criteria Provided Conflicting Classifications	CA227031	rs_58331765	11 SubmittersRCV000008330 RCV000085506 RCV001073603 RCV001002838 RCV002247267 RCV001807722
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 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 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 Stargardt Disease, Recessive Cone dystrophy not specified Macular degeneration Retinal dystrophy ABCA4-related disorder Retinitis pigmentosa Stargardt disease	Criteria Provided Conflicting Classifications	CA220688	rs_41292677	17 SubmittersRCV000008335 RCV000078671 RCV000285333 RCV000393715 RCV000340261 RCV000504806 RCV000259072 RCV000393726 RCV001075661 RCV000778139 RCV000787769 RCV002470704
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	SNV Germline	Chr1:94008251	Pathogenic/Likely pathogenic/Pathogenic, low penetrance	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Condition: not provided ABCA4-related disorder Macular dystrophy Age related macular degeneration 2 Inborn genetic diseases Stargardt disease Retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 not specified ABCA4-related retinopathy Retinitis pigmentosa See cases	Criteria Provided Multiple Submitters No Conflicts	CA119132	rs_1800553	49 SubmittersRCV000008339 RCV000008340 RCV000008341 RCV000078670 RCV000273328 RCV000504952 RCV000678513 RCV000624210 RCV000787514 RCV000505149 RCV001542557 RCV001254602 RCV001731281 RCV003324710 RCV002247269 RCV004584319
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	SNV Germline	Chr1:94043413	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Condition: not provided Retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Stargardt disease Retinitis pigmentosa not specified Macular dystrophy Age related macular degeneration 2 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119135	rs_61751374	29 SubmittersRCV000008348 RCV000008350 RCV000085549 RCV000505109 RCV000763046 RCV000787493 RCV000787494 RCV001000014 RCV000787495 RCV001196125 RCV000778259
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 Retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA203216	rs_61750200	19 SubmittersRCV000008355 RCV000085812 RCV000179293 RCV000787521 RCV001074780 RCV000763050 RCV004558240
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	SNV Germline	Chr1:94063250	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa Macular dystrophy Stargardt disease not specified Age related macular degeneration 2 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226911	rs_61751392	23 SubmittersRCV000085410 RCV000408513 RCV000505133 RCV000504750 RCV000787482 RCV000787481 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 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA129033	rs_61750130	20 SubmittersRCV000008362 RCV000023139 RCV000078666 RCV000454310 RCV000787498 RCV000763044 RCV001075868 RCV000778258
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	SNV Germline	Chr1:94005500	Pathogenic/Likely pathogenic	Retinal dystrophy, early-onset severe Condition: not provided Stargardt disease Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 ABCA4-related retinopathy Leber congenital amaurosis 14 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119140	rs_61751383	19 SubmittersRCV000008365 RCV000085786 RCV000787773 RCV000763437 RCV000504794 RCV000505162 RCV001542555 RCV002512903 RCV003447472 RCV004528093
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	Criteria Provided Conflicting Classifications	CA119146	rs_1801581	15 SubmittersRCV000008374 RCV000008375 RCV000085512 RCV000152706 RCV000349295 RCV000392936 RCV000294335 RCV000399411 RCV001002837 RCV001101950 RCV003887858 RCV004558243
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)	SNV Germline	Chr2:96287968	Conflicting classifications of pathogenicity	Retinitis pigmentosa 33 Retinitis pigmentosa Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA254265	rs_267607077	8 SubmittersRCV000008390 RCV000505052 RCV001075824 RCV001091895
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		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	Ataxia and retinitis pigmentosa with isolated vitamin E deficiency Familial isolated deficiency of vitamin E	Criteria Provided Single Submitter	CA120135	rs_121917849	3 SubmittersRCV000009708 RCV000055795
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)	SNV Germline	Chr10:84247707	Conflicting classifications of pathogenicity	Retinitis pigmentosa 44 Condition: not provided Cone dystrophy	Criteria Provided Conflicting Classifications	CA241383	rs_104894187	6 SubmittersRCV000009759 RCV000175649 RCV000626831
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) Cone dystrophy Leber congenital amaurosis 1 Cone-rod dystrophy 6 Macular dystrophy Visual impairment Retinitis pigmentosa Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226086	rs_61750173	19 SubmittersRCV000009951 RCV000084863 RCV000504851 RCV000787614 RCV001003043 RCV001228516 RCV001271114 RCV001723556 RCV003324497
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.389T>G (p.Phe130Cys)	SNV Germline	ChrX:38318909	Pathogenic/Likely pathogenic	Retinitis pigmentosa 3 Condition: not provided	No Assertion Criteria Provided	CA226418	rs_62638644	4 SubmittersRCV000010575 RCV000085105
NM_001034853.2(RPGR):c.703C>T (p.Pro235Ser)	SNV Germline	ChrX:38310690	Pathogenic	Retinitis pigmentosa 3 Condition: not provided	No Assertion Criteria Provided	CA226435	rs_62638651	2 SubmittersRCV000010576 RCV000085116
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	Criteria Provided Single Submitter	CA226447	rs_62642057	4 SubmittersRCV000010577 RCV000085125 RCV001003203 RCV002512961
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val)	SNV Germline	ChrX:38322921	Pathogenic	Retinitis pigmentosa 3 Condition: not provided Primary ciliary dyskinesia Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226376	rs_62638634	7 SubmittersRCV000010580 RCV000085072 RCV000822760 RCV001074755
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 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254931	rs_137852549	3 SubmittersRCV000010586 RCV003534308 RCV002464059
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		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 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA255301	rs_28933687	6 SubmittersRCV000011292 RCV001215347 RCV001075110
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	10 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 Condition: not provided Hearing loss, autosomal recessive Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA277965	rs_35689081	8 SubmittersRCV000012634 RCV000154341 RCV000665804 RCV001226256 RCV001291462 RCV000787856
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	SNV Germline	Chr11:66526181	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 1 Condition: not provided Retinal dystrophy Bardet-Biedl syndrome Retinitis pigmentosa Usher syndrome See cases Inborn genetic diseases BBS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA223760	rs_113624356	49 SubmittersRCV000012926 RCV000082202 RCV000210319 RCV000174408 RCV000504693 RCV000787785 RCV002251900 RCV002513000 RCV003390672
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)	SNV Germline	Chr11:66531692	Pathogenic/Likely 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 Congenital stationary night blindness autosomal dominant 1 Pigmentary retinal dystrophy Retinitis pigmentosa 4 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256661	rs_104893768	7 SubmittersRCV000013887 RCV000490234 RCV000763095 RCV001075876
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	SNV Germline	Chr3:129533711	Pathogenic/Likely pathogenic	Retinitis pigmentosa 4 Retinitis pigmentosa Condition: not provided Peripheral visual field loss Night blindness Blurred vision Retinal dystrophy Microcephaly 17, primary, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA256662	rs_29001566	15 SubmittersRCV000013888 RCV000504743 RCV000490027 RCV000626702 RCV001075874 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	Criteria Provided Multiple Submitters No Conflicts	CA256664	rs_28933394	8 SubmittersRCV000013890 RCV001074373 RCV001384460
NM_000539.3(RHO):c.50C>T (p.Thr17Met)	SNV Germline	Chr3:129528783	Pathogenic	Retinitis pigmentosa 4 Retinitis pigmentosa Retinal dystrophy not specified Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256665	rs_104893769	9 SubmittersRCV000013892 RCV000787682 RCV001075619 RCV001002098 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	Criteria Provided Multiple Submitters No Conflicts	CA256668	rs_104893772	6 SubmittersRCV000013895 RCV001003167 RCV001213959 RCV001813740
NM_000539.3(RHO):c.316G>T (p.Gly106Trp)	SNV Germline	Chr3:129529049	Pathogenic/Likely pathogenic	Retinitis pigmentosa 4 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256669	rs_104893773	3 SubmittersRCV000013896 RCV001857345 RCV001073422
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	7 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	Criteria Provided Multiple Submitters No Conflicts	CA256672	rs_104893776	6 SubmittersRCV000013899 RCV000787683 RCV001229671
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 pigmentosa 4 Retinitis punctata albescens Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA122819	rs_104893775	11 SubmittersRCV000013902 RCV000013903 RCV000132597 RCV000413771 RCV001074272
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	5 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 Retinitis pigmentosa Condition: not provided	Criteria Provided Single Submitter	CA256678	rs_29001566	3 SubmittersRCV000013907 RCV001003173 RCV001382064
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 Single Submitter	CA256682	rs_28933395	4 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	9 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	Retinitis pigmentosa 4 Retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256685	rs_104893786	7 SubmittersRCV000013917 RCV000132598 RCV001203907
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	Criteria Provided Multiple Submitters No Conflicts	CA122824	rs_104893791	4 SubmittersRCV000013921 RCV001045970 RCV001265186 RCV003105773
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	Criteria Provided Single Submitter	CA256689	rs_104893793	2 SubmittersRCV000013924 RCV001381859
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	4 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	Criteria Provided Multiple Submitters No Conflicts	CA256697	rs_104893795	3 SubmittersRCV000013931 RCV001045798
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 Retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA122838	rs_137853290	5 SubmittersRCV000013973 RCV000013974 RCV001257814 RCV001731283 RCV001857347
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)	SNV Germline	Chr15:89210794	Pathogenic/Likely pathogenic	Retinitis punctata albescens Bothnia retinal dystrophy RLBP1-related disorder Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA122839	rs_28933990	7 SubmittersRCV000013979 RCV000013978 RCV000345884 RCV001003174 RCV001387783 RCV003887865
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)	SNV Germline	Chr15:89211750	Pathogenic	Retinitis punctata albescens RLBP1-related disorder Retinitis pigmentosa Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA122840	rs_137853291	7 SubmittersRCV000013980 RCV000394737 RCV000504975 RCV001073560 RCV001387784
NM_002602.4(PDE6G):c.187+1G>T	SNV Germline	Chr17:81651644	Pathogenic	Retinitis pigmentosa 57 Retinitis pigmentosa	No Assertion Criteria Provided		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	11 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/Likely 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	5 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	Likely 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 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis Retinitis pigmentosa 20 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226577	rs_61752895	8 SubmittersRCV000013993 RCV000085219 RCV001236263 RCV001831567 RCV001376448 RCV003460467
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 RPE65-related disorder Leber congenital amaurosis Retinitis pigmentosa 20 Retinal dystrophy Leber congenital amaurosis 2 Leber congenital amaurosis Autosomal recessive retinitis pigmentosa Abnormality of the eye	Criteria Provided Multiple Submitters No Conflicts	CA226531	rs_61752871	16 SubmittersRCV000013994 RCV000085184 RCV000527143 RCV000787698 RCV001095690 RCV001073556 RCV001250682 RCV001275337 RCV001257818 RCV001813981
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)	SNV Germline	Chr1:68431160	Conflicting classifications of pathogenicity	Retinitis pigmentosa 20 Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 not specified	Criteria Provided Conflicting Classifications	CA226509	rs_62637004	5 SubmittersRCV000013995 RCV000085169 RCV001304649 RCV003114190
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)	SNV Germline	Chr1:68438228	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA256730	rs_121917744	7 SubmittersRCV000013996 RCV001250693 RCV000815732 RCV001826460 RCV003460468
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	SNV Germline	Chr1:68438293	Pathogenic	Retinitis pigmentosa 20 Condition: not provided Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement Retinitis pigmentosa 20 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226472	rs_61752909	13 SubmittersRCV000013997 RCV000085141 RCV000986328 RCV001047062 RCV001831568 RCV002496352 RCV003764564
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 2 Retinitis pigmentosa 20 Leber congenital amaurosis Retinal dystrophy RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226519	rs_121917745	10 SubmittersRCV000013999 RCV000014000 RCV000085176 RCV000132583 RCV000816506 RCV001826461 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 Retinitis pigmentosa Retinal dystrophy Patterned dystrophy of the retinal pigment epithelium	Criteria Provided Multiple Submitters No Conflicts	CA226285	rs_61755806	9 SubmittersRCV000014050 RCV000085007 RCV001063368 RCV001003142 RCV001075781 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	Choroidal dystrophy, central areolar 2 Condition: not provided Retinitis pigmentosa PRPH2-related disorder Macular dystrophy Retinal dystrophy Patterned dystrophy of the retinal pigment epithelium Stargardt disease Vitelliform macular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA122930	rs_61755793	12 SubmittersRCV000014053 RCV000084982 RCV000787663 RCV001054658 RCV000787664 RCV001074392 RCV001250353 RCV001250367 RCV001799605
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	SNV Germline	Chr6:42721821	Pathogenic/Likely pathogenic	Choroidal dystrophy, central areolar 2 Condition: not provided maculopathy PRPH2-related disorder Cone-rod dystrophy Stargardt disease Patterned macular dystrophy 1 Vitelliform macular dystrophy 2 Retinitis pigmentosa Patterned dystrophy of the retinal pigment epithelium Retinitis pigmentosa 7 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA122936	rs_61755792	14 SubmittersRCV000014056 RCV000084981 RCV001003147 RCV001049315 RCV001250350 RCV001250352 RCV001352972 RCV001250351 RCV001250348 RCV001250349 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 macular dystrophy 1 PRPH2-related disorder Retinal dystrophy Patterned dystrophy of the retinal pigment epithelium Stargardt disease Choroidal dystrophy, central areolar 2	Criteria Provided Multiple Submitters No Conflicts	CA226209	rs_61755771	13 SubmittersRCV000014067 RCV000084955 RCV000987699 RCV001039794 RCV001075450 RCV001250291 RCV001250276 RCV003987319
NM_000322.5(PRPH2):c.518A>T (p.Asp173Val)	SNV Germline	Chr6:42721817	Pathogenic/Likely pathogenic	Retinitis pigmentosa 7 Condition: not provided	No Assertion Criteria Provided	CA226248	rs_61755794	3 SubmittersRCV000014069 RCV000084983
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) maculopathy PRPH2-related disorder Stargardt disease Retinitis pigmentosa Retinal dystrophy Patterned dystrophy of the retinal pigment epithelium Patterned macular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA122946	rs_61755783	17 SubmittersRCV000014071 RCV000084971 RCV000678606 RCV000787661 RCV001003149 RCV001061048 RCV001250318 RCV001250320 RCV001075677 RCV001250319 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 Macular dystrophy Cone-rod dystrophy Retinitis pigmentosa See cases Condition: not provided Retinal dystrophy Retinitis pigmentosa Retinitis pigmentosa 49	Criteria Provided Multiple Submitters No Conflicts	CA126990	rs_62625014	18 SubmittersRCV000018440 RCV000787817 RCV000787818 RCV000778730 RCV001197999 RCV001059719 RCV001073687 RCV002504802
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	Retinitis pigmentosa 17 Retinitis pigmentosa Condition: not provided CA4-related disorder	Criteria Provided Conflicting Classifications	CA258044	rs_104894559	4 SubmittersRCV000019173 RCV000336591 RCV001247433 RCV003914854
NM_000717.5(CA4):c.206G>A (p.Arg69His)	SNV Germline	Chr17:60156653	Conflicting classifications of pathogenicity	Retinitis pigmentosa 17 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA258046	rs_121434552	3 SubmittersRCV000019175 RCV002513116 RCV003887874
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 Single Submitter	CA115240	rs_267606820	2 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	6 SubmittersRCV000001935 RCV002513132 RCV002513131
NM_001242957.3(MAK):c.718C>T (p.Gln240Ter)	SNV Germline	Chr6:10802005	Pathogenic	Retinitis pigmentosa 62	No Assertion Criteria Provided		rs_779514800	1 SubmittersRCV000022648
NM_001242957.3(MAK):c.388A>C (p.Asn130His)	SNV Germline	Chr6:10808913	Pathogenic	Retinitis pigmentosa 62	No Assertion Criteria Provided	CA259647	rs_387906646	1 SubmittersRCV000022649
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 RPE65-related disorder Retinitis pigmentosa Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226484	rs_62653011	14 SubmittersRCV000022749 RCV000022750 RCV000085150 RCV000348257 RCV000787920 RCV001054423 RCV001275328 RCV003764626
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	SNV Germline	Chr1:68439033	Pathogenic	Leber congenital amaurosis 2 Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226589	rs_61752904	7 SubmittersRCV000022753 RCV000085231 RCV002513174 RCV002490403 RCV003764627
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	SNV Germline	Chr1:68431328	Likely pathogenic	Leber congenital amaurosis 2 Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226500	rs_62636300	7 SubmittersRCV000022754 RCV000085161 RCV001054426 RCV003317042 RCV003764628
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	Criteria Provided Single Submitter	CA358695	rs_869320618	2 SubmittersRCV000022756 RCV001381858
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	6 SubmittersRCV000023141 RCV000085574 RCV000504768 RCV001073572
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		rs_1911001854	2 SubmittersRCV000023644 RCV002513199
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	SNV Germline	Chr1:26438228	Pathogenic	Retinitis pigmentosa 59 Retinitis pigmentosa 59 Developmental delay and seizures with or without movement abnormalities Retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA259894	rs_147394623	17 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 Retinitis pigmentosa 39 Usher syndrome type 2A 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	22 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		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	7 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 Mucopolysaccharidosis, MPS-III-C Retinitis pigmentosa 73 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	Cone-rod dystrophy 16 Bardet-biedl syndrome 21 Autosomal recessive retinitis pigmentosa Retinitis pigmentosa Condition: not provided	Criteria Provided Single Submitter	CA260013	rs_387907136	4 SubmittersRCV000024193 RCV000477682 RCV001257837 RCV001002908 RCV002228055
NM_177965.4(CFAP418):c.545A>G (p.Gln182Arg)	SNV Germline	Chr8:95247696	Pathogenic	Retinitis pigmentosa 64 Retinitis pigmentosa	No Assertion Criteria Provided	CA129739	rs_387907137	2 SubmittersRCV000024194 RCV001002907
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys)	SNV Germline	Chr16:1564074	Pathogenic	Saldino-Mainzer syndrome Retinitis pigmentosa 80 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129885	rs_387907192	5 SubmittersRCV000024359 RCV000515561 RCV001781315
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 Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA129886	rs_376586707	9 SubmittersRCV000024360 RCV000515584 RCV001075306 RCV001536095 RCV001818178 RCV003924859 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 Nephronophthisis Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Saldino-Mainzer syndrome Retinitis pigmentosa 80	Criteria Provided Multiple Submitters No Conflicts	CA129889	rs_201188361	13 SubmittersRCV000024363 RCV000255441 RCV000515934 RCV001328311 RCV000626465 RCV001249674
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	7 SubmittersRCV000030701 RCV001003124 RCV001075439 RCV001268748
NM_006343.3(MERTK):c.61+1G>A	SNV Germline	Chr2:111898797	Pathogenic	Retinitis pigmentosa 38	No Assertion Criteria Provided		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	Criteria Provided Single Submitter	CA260612	rs_387907314	3 SubmittersRCV000030845 RCV001257797 RCV001852614
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 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa Cone dystrophy CRB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA228022	rs_62645748	28 SubmittersRCV000032814 RCV000032815 RCV000086331 RCV000505155 RCV000762874 RCV000554663 RCV001275657 RCV001097540 RCV000787579 RCV003324500 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	Orofaciodigital syndrome I Familial aplasia of the vermis Orofaciodigital syndrome I Joubert syndrome 10 Retinitis pigmentosa 23 Simpson-Golabi-Behmel syndrome type 2	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 Oguchi disease-1 Oguchi disease-1 Retinitis pigmentosa 47 Retinitis pigmentosa 47	Criteria Provided Multiple Submitters No Conflicts	CA130895	rs_201153410	10 SubmittersRCV000034821 RCV001040357 RCV001073952 RCV001270292 RCV002272037 RCV002477062 RCV003224859
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 Condition: not provided Retinitis pigmentosa-deafness syndrome Neurodevelopmental abnormality Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D CDH23-related disorder Pituitary adenoma 5, multiple types Rare genetic deafness	Criteria Provided Conflicting Classifications	CA261801	rs_202052174	18 SubmittersRCV000039276 RCV000725220 RCV000988383 RCV001264702 RCV001374881 RCV001559300 RCV003483451 RCV004528197 RCV003473285 RCV004017329
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 ADGRV1-related disorder Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA138098	rs_190922596	10 SubmittersRCV000039568 RCV000146077 RCV000954914 RCV001151213 RCV004549464 RCV003389449
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)	SNV Germline	Chr3:150941647	Pathogenic/Likely pathogenic	Usher syndrome type 3 Rare genetic deafness Condition: not provided Usher syndrome Usher syndrome type 3A Retinitis pigmentosa 61	Criteria Provided Multiple Submitters No Conflicts	CA142688	rs_374963432	7 SubmittersRCV000041436 RCV000844624 RCV001071445 RCV001582535 RCV002243688 RCV003466890
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)	SNV Germline	Chr1:216325448	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy Condition: not provided Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143213	rs_397517963	6 SubmittersRCV000041663 RCV000670778 RCV001074760 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 Usher syndrome Rare genetic deafness Retinal dystrophy Retinitis pigmentosa	Reviewed By Expert Panel	CA262054	rs_369522997	12 SubmittersRCV000041668 RCV000411779 RCV000727128 RCV000710349 RCV000824797 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	Criteria Provided Multiple Submitters No Conflicts	CA262056	rs_111033379	7 SubmittersRCV000041669 RCV000670189 RCV000802347 RCV001353056 RCV003450731
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)	SNV Germline	Chr1:215782806	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided	Criteria Provided Conflicting Classifications	CA143221	rs_397517966	3 SubmittersRCV000041670 RCV000669162 RCV001350663
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	SNV Germline	Chr1:215782762	Pathogenic/Likely pathogenic	Usher syndrome type 2A Usher syndrome Retinitis pigmentosa 39 Usher syndrome type 2A Rare genetic deafness Condition: not provided Retinal dystrophy Retinitis pigmentosa 39 See cases	Criteria Provided Multiple Submitters No Conflicts	CA262058	rs_111033264	17 SubmittersRCV000041673 RCV000504880 RCV000665210 RCV000824783 RCV001056065 RCV001074824 RCV001376413 RCV002287354
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)	SNV Germline	Chr1:215782738	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143227	rs_111033439	4 SubmittersRCV000041674 RCV000667791 RCV001852852 RCV003466892
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	SNV Germline	Chr1:215782070	Pathogenic/Likely pathogenic	Usher syndrome type 2A Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy Rare genetic deafness Retinitis pigmentosa 39 Retinitis pigmentosa Nonsyndromic genetic hearing loss Usher syndrome	Criteria Provided Multiple Submitters No Conflicts	CA262060	rs_202175091	15 SubmittersRCV000041676 RCV000804464 RCV000666226 RCV001073629 RCV000824782 RCV001293034 RCV003324502 RCV001544538 RCV003323372
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)	SNV Germline	Chr1:215782058	Pathogenic/Likely pathogenic	Rare genetic deafness Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA262062	rs_111033265	5 SubmittersRCV000041677 RCV001073926 RCV002496659 RCV003450738 RCV001852854 RCV003450737
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 Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided	Criteria Provided Conflicting Classifications	CA143239	rs_397517969	3 SubmittersRCV000041683 RCV000666661 RCV002514158
NM_206933.4(USH2A):c.1143+1G>A	SNV Germline	Chr1:216325304	Pathogenic	Rare genetic deafness Cone-rod dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA262069	rs_397517974	4 SubmittersRCV000041697 RCV001199582 RCV003445116 RCV003445115
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)	SNV Germline	Chr1:216324317	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA143271	rs_148447919	10 SubmittersRCV000041704 RCV000308355 RCV000360778 RCV000890954
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	Criteria Provided Conflicting Classifications	CA143275	rs_142381713	10 SubmittersRCV000041707 RCV000725418 RCV000986519 RCV001579153
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)	SNV Germline	Chr1:215728142	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Condition: not provided Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262070	rs_397517976	7 SubmittersRCV000041710 RCV000669396 RCV001075329 RCV001852856 RCV003226175 RCV003450756 RCV003450757
NM_206933.4(USH2A):c.12067-1G>C	SNV Germline	Chr1:215680377	Pathogenic/Likely pathogenic	Rare genetic deafness Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262072	rs_397517977	5 SubmittersRCV000041711 RCV000670110 RCV001852857 RCV003445117 RCV003445118
NM_206933.4(USH2A):c.12067-2A>G	SNV Germline	Chr1:215680378	Pathogenic	Rare genetic deafness Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2 Retinitis pigmentosa 39 Retinal dystrophy Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA262073	rs_397517978	15 SubmittersRCV000390593 RCV000412841 RCV000666727 RCV001003259 RCV000983997 RCV001073917 RCV001271128
NM_206933.4(USH2A):c.12295-2A>G	SNV Germline	Chr1:215675618	Pathogenic/Likely pathogenic	Rare genetic deafness Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262074	rs_151148854	8 SubmittersRCV000041714 RCV000670554 RCV001057968 RCV001074339 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	Reviewed By Expert Panel	CA143283	rs_111033518	10 SubmittersRCV000041717 RCV000414389 RCV000675157 RCV001004773 RCV001074786 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 Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143284	rs_142095945	7 SubmittersRCV000041718 RCV001241616 RCV001270357 RCV001274935 RCV001376289 RCV002496660
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)	SNV Germline	Chr1:215675043	Pathogenic	Rare genetic deafness Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262082	rs_397517983	5 SubmittersRCV000041731 RCV000670430 RCV000819445 RCV001074436 RCV003450770 RCV003450771
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 Retinitis pigmentosa 39 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA262086	rs_111033417	5 SubmittersRCV000041739 RCV001073672 RCV003450773 RCV002514159
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)	SNV Germline	Chr1:215674202	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143326	rs_730254	12 SubmittersRCV000041745 RCV000585560 RCV001272941 RCV001376370 RCV003887893
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)	SNV Germline	Chr1:215671004	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143336	rs_372966682	4 SubmittersRCV000041751 RCV001245454 RCV001272937 RCV001376435
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	Conflicting classifications of pathogenicity	Rare genetic deafness Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA262091	rs_397517990	7 SubmittersRCV000041756 RCV000665736 RCV001057445 RCV001198544 RCV003887895 RCV003450788
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)	SNV Germline	Chr1:216323590	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143350	rs_35730265	13 SubmittersRCV000041760 RCV000828962 RCV001099108 RCV001099109 RCV003887896
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)	SNV Germline	Chr1:215648594	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143356	rs_139065588	6 SubmittersRCV000041763 RCV000665634 RCV001034422 RCV001272933 RCV001579147 RCV003887899
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 Cone-rod dystrophy Usher syndrome type 2A Condition: not provided Retinitis pigmentosa 39 Usher syndrome	Criteria Provided Multiple Submitters No Conflicts	CA262093	rs_397517994	7 SubmittersRCV000041772 RCV000671978 RCV000787726 RCV003450801 RCV001852859 RCV003450802 RCV003114221
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)	SNV Germline	Chr1:215628969	Conflicting classifications of pathogenicity	Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143395	rs_111033402	6 SubmittersRCV001247642 RCV001810412 RCV002483032
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	7 SubmittersRCV000041788 RCV001276136 RCV002504925 RCV002513599 RCV003460550
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)	SNV Germline	Chr1:216321921	Pathogenic	Rare genetic deafness Condition: not provided Retinitis pigmentosa 39 Retinitis pigmentosa Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA262095	rs_111033273	14 SubmittersRCV000041794 RCV000413438 RCV000678646 RCV000787727 RCV000984314 RCV001074602 RCV002483034
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	15 SubmittersRCV000041795 RCV000415970 RCV001003284 RCV001101110 RCV001376290
NM_206933.4(USH2A):c.1841-2A>G	SNV Germline	Chr1:216289412	Pathogenic	Rare genetic deafness USH2A-related disorder Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A Nonsyndromic genetic hearing loss Usher syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA262097	rs_397518003	13 SubmittersRCV000041799 RCV000270130 RCV000665036 RCV000984014 RCV001069761 RCV001271238 RCV001544537 RCV002470736
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA143433	rs_111033248	12 SubmittersRCV000041805 RCV000888471 RCV000986546 RCV001097279 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	Criteria Provided Conflicting Classifications	CA143442	rs_111033481	10 SubmittersRCV000041814 RCV000946559 RCV000986544 RCV001098935
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)	SNV Germline	Chr1:216422073	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 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 Condition: not provided Retinitis pigmentosa Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143454	rs_149304901	12 SubmittersRCV000041821 RCV000487811 RCV001097184 RCV001097185 RCV001578841
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe)	SNV Germline	Chr1:216422024	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided	Criteria Provided Conflicting Classifications	CA143456	rs_375083165	4 SubmittersRCV000041822 RCV000668396 RCV001470222
NM_206933.4(USH2A):c.3158-6A>G	SNV Germline	Chr1:216207437	Likely pathogenic	Rare genetic deafness Usher syndrome Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA143458	rs_397518010	3 SubmittersRCV000041823 RCV000505082 RCV003460551
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)	SNV Germline	Chr1:216207280	Pathogenic	Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39 Rare genetic deafness Retinal dystrophy Condition: not provided Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262098	rs_397518011	9 SubmittersRCV000041825 RCV000669871 RCV000824791 RCV001074200 RCV001386859 RCV003450838
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)	SNV Germline	Chr1:216199817	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA143465	rs_146462407	6 SubmittersRCV000041831 RCV000341412 RCV000394479 RCV000974887
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)	SNV Germline	Chr1:216199738	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA143467	rs_200276882	5 SubmittersRCV000041832 RCV000291877 RCV000346771 RCV000669144 RCV002513602 RCV003162354
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	SNV Germline	Chr1:216196698	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome Retinitis pigmentosa Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143476	rs_201709513	13 SubmittersRCV000041837 RCV000726718 RCV000665274 RCV001074345 RCV001376516 RCV002307377 RCV001723629 RCV003326116
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)	SNV Germline	Chr1:216175319	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143488	rs_148000219	13 SubmittersRCV000041844 RCV000724966 RCV001102384 RCV001102385
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)	SNV Germline	Chr1:216175293	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Usher syndrome type 2A Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143494	rs_41303255	13 SubmittersRCV000041846 RCV000270447 RCV000324312 RCV000513149 RCV001073300
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)	SNV Germline	Chr1:216421859	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Usher syndrome type 2A USH2A-related disorder	Criteria Provided Conflicting Classifications	CA143499	rs_111033479	6 SubmittersRCV000041848 RCV000881175 RCV001099313 RCV001099314 RCV004537152
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val)	SNV Germline	Chr1:216089061	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 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	8 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 Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Childhood onset hearing loss	Criteria Provided Conflicting Classifications	CA143523	rs_140895792	8 SubmittersRCV000041863 RCV000585075 RCV001276245 RCV001588861 RCV001543605
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)	SNV Germline	Chr1:216072958	Pathogenic/Likely pathogenic	Rare genetic deafness Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262107	rs_397518021	7 SubmittersRCV000041869 RCV000668739 RCV001289411 RCV003450858 RCV003450859
NM_206933.4(USH2A):c.5857+2T>C	SNV Germline	Chr1:216072887	Likely pathogenic	Rare genetic deafness USH2A-related disorder Retinitis pigmentosa 39 Usher syndrome Condition: not provided Retinal dystrophy Usher syndrome type 2A	Reviewed By Expert Panel	CA262109	rs_397518022	9 SubmittersRCV000041870 RCV000295857 RCV000675153 RCV001004785 RCV001036145 RCV001074605 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	7 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 Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143534	rs_41302239	18 SubmittersRCV000041872 RCV000504937 RCV000726918 RCV000765069 RCV001196428 RCV001579152
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)	SNV Germline	Chr1:216070175	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Progressive cone dystrophy (without rod involvement) Usher syndrome type 2A USH2A-related disorder	Criteria Provided Conflicting Classifications	CA248657	rs_41303287	16 SubmittersRCV000041873 RCV000585540 RCV000669397 RCV000787924 RCV001273044 RCV004537154
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe)	SNV Germline	Chr1:216070107	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 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 Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143546	rs_111033514	8 SubmittersRCV000041879 RCV000664994 RCV000726921 RCV001273040
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)	SNV Germline	Chr1:216046532	Pathogenic	Rare genetic deafness Condition: not provided Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262111	rs_111033386	6 SubmittersRCV000041880 RCV001042426 RCV001073793 RCV001826597 RCV003450867
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=)	SNV Germline	Chr1:215999058	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 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 Retinitis pigmentosa 39 Retinal dystrophy Usher syndrome type 2A USH2A-related disorder	Criteria Provided Conflicting Classifications	CA262114	rs_397518026	16 SubmittersRCV000041890 RCV000408647 RCV000504825 RCV000675152 RCV001075204 RCV001826599 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 Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided	Criteria Provided Conflicting Classifications	CA143585	rs_200038092	10 SubmittersRCV000041902 RCV000490376 RCV000671627 RCV000924303
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 Usher syndrome type 2A Retinitis pigmentosa 39 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	Criteria Provided Conflicting Classifications	CA143603	rs_397518032	2 SubmittersRCV000041913 RCV000668816
NM_206933.4(USH2A):c.78T>C (p.Ala26=)	SNV Germline	Chr1:216422259	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143611	rs_59139861	4 SubmittersRCV000041917 RCV000888634 RCV001101304 RCV001101303
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 Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA143613	rs_111033280	11 SubmittersRCV000041918 RCV000675158 RCV001074162 RCV001003288 RCV001060026 RCV001826601 RCV003450896
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)	SNV Germline	Chr1:216327619	Pathogenic	Rare genetic deafness Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Usher syndrome Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262118	rs_397518036	8 SubmittersRCV000041921 RCV000669898 RCV001852861 RCV003389452 RCV001831706 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 Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Retinitis pigmentosa 39 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143623	rs_143240767	9 SubmittersRCV000041924 RCV000490269 RCV000665134 RCV000937215 RCV001579280 RCV003888409
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)	SNV Germline	Chr1:215878891	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA262120	rs_111033529	6 SubmittersRCV000041927 RCV000505137 RCV000664665 RCV000937132 RCV001074998
NM_206933.4(USH2A):c.8559-2A>G	SNV Germline	Chr1:215877882	Pathogenic	Usher syndrome type 2A Retinitis pigmentosa Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Usher syndrome Rare genetic deafness Retinal dystrophy Retinitis pigmentosa 39	Reviewed By Expert Panel	CA262122	rs_397518039	15 SubmittersRCV000041930 RCV000132715 RCV000665497 RCV000592589 RCV000710341 RCV000824785 RCV001075171 RCV003460553
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 Retinitis pigmentosa Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome Surfactant metabolism dysfunction, pulmonary, 2	Criteria Provided Multiple Submitters No Conflicts	CA262123	rs_397518041	12 SubmittersRCV000041937 RCV000504790 RCV000666550 RCV000760327 RCV001075814 RCV001273709 RCV001376393 RCV001193386 RCV003225026
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)	SNV Germline	Chr1:215844481	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Usher syndrome type 2A Usher syndrome	Criteria Provided Conflicting Classifications	CA143644	rs_111033456	5 SubmittersRCV000041938 RCV000669262 RCV001248550 RCV001276962 RCV003389453
NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter)	SNV Germline	Chr1:215838058	Pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA262128	rs_397518046	4 SubmittersRCV000041947 RCV001588862 RCV001216340
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	Criteria Provided Multiple Submitters No Conflicts	CA262130	rs_41308425	9 SubmittersRCV000041950 RCV000726813 RCV001002711 RCV001376451
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 Condition: not provided Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome	Criteria Provided Multiple Submitters No Conflicts	CA262131	rs_397518048	15 SubmittersRCV000041952 RCV000624783 RCV001003263 RCV001055909 RCV001074810 RCV001831709 RCV001723630 RCV002504928 RCV003387741 RCV003492342
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)	SNV Germline	Chr1:215817108	Pathogenic	Rare genetic deafness Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy Usher syndrome type 2A Condition: not provided Usher syndrome Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262133	rs_73090721	10 SubmittersRCV000041954 RCV000674717 RCV001075710 RCV001273702 RCV001388971 RCV001778686 RCV003450911
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)	SNV Germline	Chr1:215799066	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 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	CA262135	rs_111033263	9 SubmittersRCV000041960 RCV000787745 RCV000668014 RCV001075163 RCV001044836 RCV003450915 RCV003450916
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_017739.4(POMGNT1):c.1285-2A>G	SNV Germline	Chr1:46192438	Pathogenic/Likely pathogenic	Muscle eye brain disease POMGNT1-related disorder Retinitis pigmentosa 76 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263941	rs_386834012	6 SubmittersRCV000049991 RCV000292476 RCV000983991 RCV000375211 RCV001853063 RCV002514260 RCV003460639
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)	SNV Germline	Chr1:46192379	Conflicting classifications of pathogenicity	Muscle eye brain disease Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Conflicting Classifications	CA263945	rs_386834014	6 SubmittersRCV000049993 RCV001542551 RCV002514261 RCV002514262 RCV003228903 RCV003460640
NM_017739.4(POMGNT1):c.1539+1G>A	SNV Germline	Chr1:46192097	Conflicting classifications of pathogenicity	Muscle eye brain disease Condition: not provided POMGNT1-related disorder Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 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 Retinitis pigmentosa 76 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Myopathy caused by variation in POMGNT1 Muscular dystrophy-dystroglycanopathy	Criteria Provided Conflicting Classifications	CA234711	rs_138642840	24 SubmittersRCV000049995 RCV000153760 RCV000323217 RCV000501155 RCV000648199 RCV000763345 RCV000983990 RCV001030748 RCV001196668 RCV001269143 RCV002295277 RCV002470740 RCV002514263
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)	SNV Germline	Chr1:46189870	Pathogenic/Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy Retinitis pigmentosa 76 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263954	rs_386834019	8 SubmittersRCV000050000 RCV000820354 RCV001542522 RCV002514265 RCV002496725 RCV004566907
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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy	Criteria Provided Multiple Submitters No Conflicts	CA263963	rs_386834024	7 SubmittersRCV000050005 RCV000240866 RCV001043665 RCV001810415 RCV002513697
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 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263981	rs_386834034	9 SubmittersRCV000050017 RCV000408610 RCV000578838 RCV000984295 RCV000984294 RCV001062800 RCV002272048 RCV003460643
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 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 brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA223256	rs_386834039	8 SubmittersRCV000050023 RCV000081807 RCV001039421 RCV000984300 RCV000984204 RCV000984205 RCV003466920
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr12:88114488	Pathogenic	Meckel syndrome, type 4 Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Retinitis pigmentosa Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Condition: not provided Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA144389	rs_386834152	10 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002504949 RCV002285263 RCV003460645
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_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	Criteria Provided Multiple Submitters No Conflicts	CA280042	rs_137854907	2 SubmittersRCV000058868 RCV003764740
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 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications		rs_200860068	3 SubmittersRCV001000883 RCV001158609 RCV001230487
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	5 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	Criteria Provided Conflicting Classifications	CA220605	rs_398123299	5 SubmittersRCV000078554 RCV000778735 RCV001074335 RCV001151258
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 Retinitis pigmentosa Pigmentary retinal dystrophy Newfoundland cone-rod dystrophy	Criteria Provided Conflicting Classifications	CA220669	rs_144254383	4 SubmittersRCV000078643 RCV000350084 RCV000292834 RCV000398047
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 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220683	rs_61750120	17 SubmittersRCV000078665 RCV000150052 RCV001002834 RCV001074904 RCV001195927 RCV002490678 RCV004537308
NM_000350.3(ABCA4):c.5461-10T>C	SNV Germline	Chr1:94011395	Pathogenic/Likely pathogenic	Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Benign concentric annular macular dystrophy Condition: not provided Retinitis pigmentosa not specified Retinal dystrophy Retinitis pigmentosa 19 Macular dystrophy Age related macular degeneration 2 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA220687	rs_1800728	28 SubmittersRCV000008366 RCV000177965 RCV000210325 RCV000078669 RCV000787510 RCV001000430 RCV000210327 RCV001542559 RCV000504857 RCV000678511 RCV000763440 RCV000787771
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His)	SNV Germline	Chr5:149896500	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA146172	rs_17711594	5 SubmittersRCV000078824 RCV000958573 RCV000407553
NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr)	SNV Germline	Chr5:149884543	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 43 Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA146174	rs_78775072	5 SubmittersRCV000078825 RCV001001657 RCV001521115 RCV001156330
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 Condition: not provided Retinitis pigmentosa 25 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA147159	rs_182322608	7 SubmittersRCV000079542 RCV000513065 RCV000664906 RCV001162621
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)	SNV Germline	Chr6:63864319	Pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa Retinitis pigmentosa 25	Criteria Provided Multiple Submitters No Conflicts	CA221547	rs_398123575	13 SubmittersRCV000177866 RCV000210330 RCV000504744 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 PRPF3-related disorder Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA222786	rs_143350315	4 SubmittersRCV000081164 RCV003952514 RCV001100611
NM_006017.3(PROM1):c.1977C>T (p.Asn659=)	SNV Germline	Chr4:15991228	Conflicting classifications of pathogenicity	not specified Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Stargardt disease 4 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA148434	rs_149028760	6 SubmittersRCV000081346 RCV000296436 RCV000351307 RCV000326660 RCV000381327 RCV000892544
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	5 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	Criteria Provided Conflicting Classifications	CA223111	rs_144822294	3 SubmittersRCV000081612 RCV001125500 RCV001125501
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)	SNV Germline	Chr17:6433928	Conflicting classifications of pathogenicity	Condition: not provided not specified Retinitis Pigmentosa, Recessive Retinitis Pigmentosa, Dominant Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA223113	rs_62653020	8 SubmittersRCV000081613 RCV000259077 RCV000306547 RCV000345097 RCV001080955
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	Criteria Provided Conflicting Classifications	CA223115	rs_62637017	9 SubmittersRCV000081614 RCV000311702 RCV000371077 RCV001001388 RCV001086330 RCV004542792
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 Condition: not provided Leber congenital amaurosis 3	Criteria Provided Conflicting Classifications	CA223536	rs_151338404	6 SubmittersRCV000081956 RCV000327877 RCV001699118 RCV000952079
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	Criteria Provided Conflicting Classifications	CA223636	rs_146822426	4 SubmittersRCV000082098 RCV000417364 RCV001095829 RCV001095830
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 Retinitis pigmentosa 73 Mucopolysaccharidosis, MPS-III-C Sanfilippo syndrome Retinitis pigmentosa 73	Criteria Provided Multiple Submitters No Conflicts	CA224186	rs_398124544	9 SubmittersRCV000082652 RCV000668206 RCV001074721 RCV001065437 RCV001192639 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	6 SubmittersRCV000082654 RCV000671662 RCV001221115
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)	SNV Germline	Chr1:215970720	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	CA224398	rs_398124619	9 SubmittersRCV000675016 RCV000760348 RCV001002688 RCV001376458 RCV001075205
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)	SNV Germline	Chr1:215888734	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Usher syndrome	Criteria Provided Conflicting Classifications	CA224400	rs_398124620	4 SubmittersRCV000082831 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	Criteria Provided Multiple Submitters No Conflicts	CA149722	rs_149614625	5 SubmittersRCV000083268 RCV001228000 RCV001723662 RCV002483157
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 Familial aplasia of the vermis Condition: not provided Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly Bardet-Biedl syndrome 20	Criteria Provided Multiple Submitters No Conflicts	CA149724	rs_587777079	4 SubmittersRCV000083270 RCV000201713 RCV003225027 RCV002483158
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)	SNV Germline	Chr2:27480049	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 10 without polydactyly 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 Inborn genetic diseases Condition: not provided IFT172-related disorder	Criteria Provided Conflicting Classifications	CA149729	rs_145541911	6 SubmittersRCV000083274 RCV001303423 RCV002490732 RCV003278664 RCV003153361 RCV004549522
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	Saldino-Mainzer syndrome Jeune thoracic dystrophy Saldino-Mainzer syndrome Joubert syndrome with Jeune asphyxiating thoracic dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA149747	rs_431905521	5 SubmittersRCV000083297 RCV000515922 RCV000626469 RCV004579537
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)	SNV Germline	Chr16:1571494	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia without polydactyly Saldino-Mainzer syndrome Retinal dystrophy Condition: not provided Retinitis pigmentosa 80 Retinitis pigmentosa IFT140-related disorder	Criteria Provided Conflicting Classifications	CA149748	rs_199826737	12 SubmittersRCV000083298 RCV000626462 RCV001075445 RCV001268554 RCV001542691 RCV002509205 RCV003398688
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=)	SNV Germline	Chr6:42722086	Conflicting classifications of pathogenicity	Condition: not provided PRPH2-related disorder Choroidal dystrophy, central areolar 2 Patterned macular dystrophy 1 Retinitis pigmentosa Pigmentary retinal dystrophy Cone-rod dystrophy Adult-onset foveomacular vitelliform dystrophy not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA226218	rs_61755775	8 SubmittersRCV000084960 RCV001086017 RCV001158408 RCV001158409 RCV001165124 RCV001158410 RCV001165123 RCV001165122 RCV001699036 RCV003888453
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	SNV Germline	Chr6:42721913	Pathogenic/Likely pathogenic	Condition: not provided Patterned macular dystrophy 1 PRPH2-related disorder Retinal dystrophy Stargardt disease Patterned dystrophy of the retinal pigment epithelium Cone-rod dystrophy Autosomal recessive bestrophinopathy Retinitis pigmentosa Vitelliform macular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA185988	rs_61755781	10 SubmittersRCV000084969 RCV000161145 RCV001051727 RCV001074856 RCV001250306 RCV001250316 RCV001250317 RCV001353037 RCV001723663 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	Criteria Provided Multiple Submitters No Conflicts	CA226236	rs_61755785	6 SubmittersRCV000084973 RCV001315051 RCV003238719
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 Pigmentary retinal dystrophy Retinitis pigmentosa Stargardt disease PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226238	rs_61755787	6 SubmittersRCV000084975 RCV000626661 RCV001074377 RCV001270171 RCV001250327 RCV001250326 RCV001378482
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg)	SNV Germline	Chr6:42721800	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226252	rs_61755796	4 SubmittersRCV000084985 RCV001250370 RCV002514515
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	7 SubmittersRCV000085000 RCV000504657 RCV001854491 RCV003888459
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)	SNV Germline	Chr6:42704547	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226283	rs_61755805	8 SubmittersRCV000085006 RCV000787871 RCV001058357
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)	SNV Germline	Chr6:42704534	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa Retinal dystrophy PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226293	rs_61755810	6 SubmittersRCV000085011 RCV001003141 RCV001075618 RCV001346727
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 Cone-rod dystrophy PRPH2-related disorder not specified	Criteria Provided Conflicting Classifications	CA226298	rs_61755813	7 SubmittersRCV000085014 RCV001159969 RCV001164883 RCV001164884 RCV001164885 RCV001164887 RCV001164886 RCV001439459 RCV001530323
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	Criteria Provided Multiple Submitters No Conflicts	CA226312	rs_62645935	6 SubmittersRCV000085022 RCV001705814 RCV002514517
NM_000322.5(PRPH2):c.828+3A>T	SNV Germline	Chr6:42704362	Pathogenic	Condition: not provided PRPH2-related disorder Retinal dystrophy Choroideremia Cone-rod dystrophy Patterned dystrophy of the retinal pigment epithelium Vitelliform macular dystrophy 2 Retinitis pigmentosa Doyne honeycomb retinal dystrophy Stargardt disease Patterned macular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA226319	rs_281865373	10 SubmittersRCV000085026 RCV001047656 RCV001073686 RCV001250345 RCV001250359 RCV001250346 RCV001250347 RCV001250357 RCV001250358 RCV001250344 RCV001542666
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)	SNV Germline	Chr6:42698470	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa PRPH2-related disorder Stargardt disease	Criteria Provided Conflicting Classifications	CA226322	rs_62645939	9 SubmittersRCV000085028 RCV001161271 RCV001438086 RCV001250360
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)	SNV Germline	Chr6:42698398	Conflicting classifications of pathogenicity	Condition: not provided Patterned macular dystrophy 1 Choroidal dystrophy, central areolar 2 Adult-onset foveomacular vitelliform dystrophy Pigmentary retinal dystrophy Cone-rod dystrophy Retinitis pigmentosa PRPH2-related disorder Stargardt disease Patterned dystrophy of the retinal pigment epithelium	Criteria Provided Conflicting Classifications	CA226331	rs_61748434	8 SubmittersRCV000085034 RCV000298015 RCV000301680 RCV000261808 RCV000356624 RCV000406549 RCV000787872 RCV001066591 RCV001250365 RCV001250366
NM_001034853.2(RPGR):c.1245+3A>G	SNV Germline	ChrX:38298953	Pathogenic/Likely pathogenic	Retinitis pigmentosa 3 Condition: not provided Retinal dystrophy Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA226348	rs_62635002	4 SubmittersRCV000010579 RCV000085047 RCV001073791 RCV002514520
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.865A>G (p.Ile289Val)	SNV Germline	ChrX:38304704	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa not specified Primary ciliary dyskinesia RPGR-related disorder	Criteria Provided Conflicting Classifications	CA226452	rs_62640587	5 SubmittersRCV000085129 RCV000990776 RCV001844036 RCV001078829 RCV003891584
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	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA226480	rs_62646883	2 SubmittersRCV000085147 RCV001854496
NM_000329.3(RPE65):c.11+5G>A	SNV Germline	Chr1:68449890	Pathogenic	Leber congenital amaurosis 2 Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinal dystrophy Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement Retinitis pigmentosa 20 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226483	rs_61751276	20 SubmittersRCV000022752 RCV000085149 RCV000524808 RCV000505050 RCV000678614 RCV001275342 RCV002498448 RCV003460766
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	SNV Germline	Chr1:68446837	Pathogenic	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement Retinitis pigmentosa 20 RPE65-related recessive retinopathy Retinal dystrophy	Reviewed By Expert Panel	CA226491	rs_61751281	10 SubmittersRCV000085155 RCV000132582 RCV001047503 RCV001275340 RCV001250675 RCV002498450 RCV004527312 RCV001074416
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)	SNV Germline	Chr1:68431491	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	CA226497	rs_62636298	5 SubmittersRCV000085159 RCV001089894 RCV001041992 RCV002509207
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)	SNV Germline	Chr1:68431371	Likely pathogenic	Condition: not provided Retinal dystrophy Leber congenital amaurosis 2 RPE65-related recessive retinopathy Leber congenital amaurosis 2 Retinitis pigmentosa 20	Reviewed By Expert Panel	CA226499	rs_62636299	5 SubmittersRCV000085160 RCV001074061 RCV003466997 RCV003764786 RCV001323215
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	SNV Germline	Chr1:68446824	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Autosomal recessive retinitis pigmentosa Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 RPE65-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226506	rs_61751282	8 SubmittersRCV000085166 RCV000701390 RCV001257816 RCV001250676 RCV001275338 RCV001808321 RCV004528783
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)	SNV Germline	Chr1:68431131	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Multiple Submitters No Conflicts	CA226513	rs_62637006	6 SubmittersRCV000085172 RCV001376503 RCV001250694 RCV002513922
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)	SNV Germline	Chr1:68431097	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226515	rs_62637007	6 SubmittersRCV000085173 RCV001250706 RCV001257424 RCV003764787
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 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy Leber congenital amaurosis	Reviewed By Expert Panel	CA226517	rs_62653015	10 SubmittersRCV000085175 RCV001250703 RCV001854497 RCV003764788 RCV001826773
NM_000329.3(RPE65):c.235T>C (p.Tyr79His)	SNV Germline	Chr1:68446720	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA226528	rs_61752869	2 SubmittersRCV000085182 RCV003764790
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 Retinitis pigmentosa Leber congenital amaurosis 2 Inborn genetic diseases RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226533	rs_61752873	9 SubmittersRCV000085186 RCV001061074 RCV001275336 RCV001731373 RCV002247485 RCV003242980 RCV003764791
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	Criteria Provided Multiple Submitters No Conflicts	CA226537	rs_281865285	3 SubmittersRCV000085190 RCV001376504 RCV001377675
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	SNV Germline	Chr1:68444825	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related disorder Leber congenital amaurosis Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226540	rs_62642584	10 SubmittersRCV000085192 RCV000763389 RCV001249229 RCV001275333 RCV003467000 RCV003764793
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	SNV Germline	Chr1:68444656	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement Retinitis pigmentosa 20 Inborn genetic diseases Retinal dystrophy RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226545	rs_61752877	12 SubmittersRCV000085195 RCV000538669 RCV000986332 RCV001275332 RCV002490740 RCV003242981 RCV003888467 RCV003764794
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)	SNV Germline	Chr1:68444596	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA226550	rs_61752880	3 SubmittersRCV000085198 RCV001854498 RCV004566978
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	SNV Germline	Chr1:68440997	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 RPE65-related disorder Leber congenital amaurosis 2 Leber congenital amaurosis Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226557	rs_61752883	10 SubmittersRCV000085203 RCV000678617 RCV000778252 RCV001250708 RCV001831894 RCV001245153 RCV004527316
NM_000329.3(RPE65):c.544C>T (p.His182Tyr)	SNV Germline	Chr1:68440952	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Autosomal recessive retinitis pigmentosa RPE65-related recessive retinopathy Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226559	rs_61752884	5 SubmittersRCV000085205 RCV001388257 RCV001257821 RCV004527317 RCV004566979
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	SNV Germline	Chr1:68448653	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226576	rs_61751277	10 SubmittersRCV000085218 RCV001250672 RCV001218527 RCV002222384 RCV003764796
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	SNV Germline	Chr1:68439571	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226579	rs_61752896	7 SubmittersRCV000085220 RCV000678618 RCV001207227 RCV001831895 RCV003764797
NM_000329.3(RPE65):c.858+1G>A	SNV Germline	Chr1:68439190	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20	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 Leber congenital amaurosis 2 Retinitis pigmentosa 20	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 Retinal dystrophy Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement Retinitis pigmentosa 20 RPE65-related recessive retinopathy Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis	Reviewed By Expert Panel	CA226591	rs_61751279	13 SubmittersRCV000085232 RCV001074560 RCV001250674 RCV002498451 RCV003460771 RCV000668398 RCV001003189
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	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA226599	rs_61752908	3 SubmittersRCV000085237 RCV000808234 RCV001250691
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	SNV Germline	Chr1:94079421	Conflicting classifications of pathogenicity	Condition: not provided Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder Autosomal recessive retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA226872	rs_61748549	11 SubmittersRCV000085376 RCV000764205 RCV000986372 RCV001073759 RCV001096640 RCV001257823
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 Retinitis pigmentosa 19 Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA179692	rs_61748550	10 SubmittersRCV000085378 RCV000152707 RCV001074409 RCV003398695 RCV002513925 RCV004558301
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)	SNV Germline	Chr1:94063224	Pathogenic/Likely pathogenic	Condition: not provided Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Retinitis pigmentosa 19 ABCA4-related disorder Cone-rod dystrophy 3 Retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA226915	rs_61748558	11 SubmittersRCV000085413 RCV000763048 RCV000761253 RCV000778263 RCV000782281 RCV001074836 RCV004558302
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	SNV Germline	Chr1:94111561	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Retinal dystrophy Stargardt disease 3	Criteria Provided Conflicting Classifications	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 Severe early-childhood-onset retinal dystrophy Retinal dystrophy Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Retinitis pigmentosa ABCA4-related disorder Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Stargardt disease Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA226932	rs_61749409	20 SubmittersRCV000085428 RCV000408597 RCV000504951 RCV000850520 RCV001353025 RCV001723664 RCV001849310 RCV002250560 RCV002498452 RCV003324506 RCV004558305
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)	SNV Germline	Chr1:94062587	Conflicting classifications of pathogenicity	Condition: not provided not specified Macular degeneration Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA201008	rs_61749417	8 SubmittersRCV000085445 RCV000174470 RCV000260757 RCV000318324 RCV000353201 RCV000356519 RCV000986369 RCV001075850 RCV001098279
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 See cases Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA226961	rs_61752401	11 SubmittersRCV000085448 RCV000408499 RCV001542645 RCV004584346 RCV004558306
NM_000350.3(ABCA4):c.1938-1G>A	SNV Germline	Chr1:94060760	Pathogenic	Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Condition: not provided Macular dystrophy	No Assertion Criteria Provided	CA226963	rs_61751263	3 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 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19	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 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226965	rs_61749420	10 SubmittersRCV000085452 RCV000408546 RCV000763047 RCV001074668
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 Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Macular degeneration Cone-Rod Dystrophy, Recessive ABCA4-related disorder Age related macular degeneration 2	Criteria Provided Conflicting Classifications	CA227022	rs_61749440	10 SubmittersRCV000085500 RCV000260644 RCV000280747 RCV000315748 RCV000375069 RCV001096530 RCV001197697
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 Stargardt Disease, Recessive Macular degeneration ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA227045	rs_61754033	4 SubmittersRCV000085518 RCV000271906 RCV000287276 RCV000322409 RCV000377007 RCV001099949
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	SNV Germline	Chr1:94046922	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA227051	rs_61749451	6 SubmittersRCV000085523 RCV000504717 RCV000505078 RCV002498454
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)	SNV Germline	Chr1:94042830	Pathogenic	Condition: not provided Retinal dystrophy Age related macular degeneration 2 Abnormality of the eye Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA227097	rs_61751398	10 SubmittersRCV000085562 RCV001075833 RCV001199228 RCV001814057 RCV001808323 RCV002466427 RCV002498455
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)	SNV Germline	Chr1:94121014	Pathogenic/Likely pathogenic	Condition: not provided ABCA4-related disorder Retinal dystrophy Retinitis pigmentosa Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA227106	rs_62645946	9 SubmittersRCV000085568 RCV000779010 RCV001074134 RCV001723665 RCV002247489 RCV002051808 RCV003324509 RCV003324510
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 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Retinal dystrophy Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227116	rs_1801269	10 SubmittersRCV000085576 RCV000408578 RCV000763045 RCV001075726 RCV001199211
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	SNV Germline	Chr1:94031015	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227169	rs_61750137	12 SubmittersRCV000085616 RCV000408549 RCV001074847 RCV002490742 RCV003155072
NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp)	SNV Germline	Chr1:94030464	Pathogenic	Condition: not provided Autosomal recessive retinitis pigmentosa	Criteria Provided Single Submitter	CA227182	rs_61750140	3 SubmittersRCV000085628 RCV001257845
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 Retinal dystrophy Stargardt disease Age related macular degeneration 2 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA227192	rs_61750145	13 SubmittersRCV000085636 RCV000408536 RCV001074852 RCV001002829 RCV001198562 RCV002498456
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 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Retinal dystrophy Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA227193	rs_61750146	11 SubmittersRCV000085637 RCV000408472 RCV000763043 RCV001073630 RCV001808325
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	Criteria Provided Multiple Submitters No Conflicts	CA227198	rs_61751402	19 SubmittersRCV000085641 RCV000177442 RCV000210300 RCV000787763 RCV000779003 RCV001542643 RCV004584347
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	Criteria Provided Multiple Submitters No Conflicts	CA227218	rs_61750152	13 SubmittersRCV000085656 RCV000177509 RCV000210286 RCV000623715 RCV001002827 RCV001075849 RCV001542561
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 Cone-rod dystrophy 3 Age-related macular degeneration Retinitis pigmentosa 19 Retinitis pigmentosa ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227219	rs_62642574	11 SubmittersRCV000085657 RCV000177510 RCV001002826 RCV001074286 RCV001535669 RCV003235039 RCV004529890
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 Inborn genetic diseases Abnormal retinal morphology Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA227225	rs_62646863	16 SubmittersRCV000085663 RCV000504910 RCV000622993 RCV000626667 RCV000764207 RCV001100155
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	16 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 Retinal dystrophy Stargardt disease Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 19 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227239	rs_61750155	15 SubmittersRCV000085674 RCV000408465 RCV001074177 RCV001002825 RCV001257846 RCV001808326 RCV003387758
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 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA227253	rs_61751404	17 SubmittersRCV000085683 RCV000210311 RCV000505114 RCV000408519 RCV000787504 RCV002505017
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	Criteria Provided Conflicting Classifications	CA227255	rs_61753017	9 SubmittersRCV000085685 RCV000787506 RCV000986355 RCV001075879
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 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA227272	rs_61750564	5 SubmittersRCV000085697 RCV000408469 RCV002490743
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.5460+1G>A	SNV Germline	Chr1:94014542	Pathogenic	Condition: not provided Retinitis pigmentosa Stargardt disease Autosomal recessive retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227308	rs_61753030	5 SubmittersRCV000085729 RCV000791319 RCV001002813 RCV001257848
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 Stargardt disease ABCA4-related disorder Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA202869	rs_1801466	14 SubmittersRCV000085744 RCV000178424 RCV000293913 RCV000309306 RCV000391356 RCV000348932 RCV000721173 RCV001002812 RCV001097975 RCV001197336 RCV001262623 RCV001723669
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 ABCA4-related disorder Retinitis pigmentosa Retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA227333	rs_1800552	17 SubmittersRCV000085752 RCV000408593 RCV000623966 RCV000787513 RCV000778998 RCV000787764 RCV001075015 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 Stargardt disease Cone-rod dystrophy ABCA4-related disorder Retinal dystrophy Age related macular degeneration 2 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA227338	rs_61751407	29 SubmittersRCV000085757 RCV000210303 RCV000210321 RCV000332324 RCV000515694 RCV000845081 RCV000778997 RCV001074898 RCV001196124 RCV002498458
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 ABCA4-related disorder Cone-Rod Dystrophy, Recessive 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 RCV001096228 RCV000379050 RCV001195781 RCV003888479 RCV004562249
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)	SNV Germline	Chr1:94007710	Pathogenic	Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227357	rs_61750639	7 SubmittersRCV000085778 RCV001002809 RCV001075771
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 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 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 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Stargardt disease Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227369	rs_61753038	8 SubmittersRCV000085790 RCV000763435 RCV000787772 RCV001073783 RCV002283455
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)	SNV Germline	Chr1:94001961	Pathogenic	Condition: not provided Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227373	rs_61753039	3 SubmittersRCV000085792 RCV002490744
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)	SNV Germline	Chr1:94001885	Conflicting classifications of pathogenicity	Condition: not provided Stargardt Disease, Recessive Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Macular degeneration ABCA4-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA227382	rs_61748519	5 SubmittersRCV000085800 RCV000277538 RCV000292818 RCV000332637 RCV000387042 RCV001101661 RCV003888481
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 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227396	rs_61748520	8 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 not specified Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Macular degeneration ABCA4-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA203214	rs_6657239	10 SubmittersRCV000085814 RCV000179292 RCV000315191 RCV000269487 RCV000369853 RCV000369400 RCV001098368 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	Criteria Provided Multiple Submitters No Conflicts	CA227400	rs_61753043	8 SubmittersRCV000085816 RCV000408502 RCV003225930
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 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA227420	rs_61748538	6 SubmittersRCV000085832 RCV000504919 RCV002470767 RCV002498460
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	SNV Germline	Chr1:93997932	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Cone dystrophy Retinitis pigmentosa 19 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227425	rs_61753046	12 SubmittersRCV000085837 RCV000408450 RCV000504742 RCV001352970 RCV004529895
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 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 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_000554.6(CRX):c.253-15G>A	SNV Germline	Chr19:47839305	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 7 Cone-rod dystrophy 2 Leber congenital amaurosis 7 Cone-rod dystrophy 2	Criteria Provided Conflicting Classifications	CA227619	rs_145805694	7 SubmittersRCV000085996 RCV000282603 RCV000335244 RCV000374438 RCV001512740
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)	SNV Germline	Chr19:47839492	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 1 Leber congenital amaurosis 7 Cone-rod dystrophy 2 Cone-rod dystrophy 2 Autosomal dominant retinitis pigmentosa Leber congenital amaurosis 7	Criteria Provided Conflicting Classifications	CA227624	rs_61748442	9 SubmittersRCV000086001 RCV000787829 RCV000990235 RCV001089193 RCV001131568 RCV001257854 RCV001131569
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	3 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 Cone-rod dystrophy 2 Leber congenital amaurosis 7 Retinitis pigmentosa Leber congenital amaurosis 7 Cone-rod dystrophy 2 CRX-related disorder	Criteria Provided Conflicting Classifications	CA227639	rs_61748455	4 SubmittersRCV000086014 RCV000277021 RCV000311321 RCV000368298 RCV001080501 RCV003905083
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)	SNV Germline	Chr6:35500010	Pathogenic	Condition: not provided Retinitis pigmentosa 14	Criteria Provided Single Submitter	CA227705	rs_62636511	3 SubmittersRCV000086069 RCV001542663
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)	SNV Germline	Chr6:35499990	Conflicting classifications of pathogenicity	Condition: not provided not specified Retinitis pigmentosa Leber congenital amaurosis 15	Criteria Provided Conflicting Classifications	CA227706	rs_141980901	8 SubmittersRCV000086070 RCV000591717 RCV001156199 RCV001156200
NM_003322.6(TULP1):c.1495+1G>A	SNV Germline	Chr6:35499980	Pathogenic	Condition: not provided Retinitis pigmentosa 14 Retinal dystrophy Autosomal recessive retinitis pigmentosa Leber congenital amaurosis 15	Criteria Provided Multiple Submitters No Conflicts	CA227708	rs_281865168	8 SubmittersRCV000086071 RCV000454250 RCV001075035 RCV001257785 RCV000454167
NM_003322.6(TULP1):c.1496-6C>A	SNV Germline	Chr6:35498466	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa 14 Leber congenital amaurosis Retinitis pigmentosa 14 Leber congenital amaurosis 15	Criteria Provided Multiple Submitters No Conflicts	CA227709	rs_281865171	10 SubmittersRCV000086072 RCV000787923 RCV001073440 RCV001376339 RCV002228330 RCV002483168
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.637-6C>T	SNV Germline	Chr11:61957381	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant vitreoretinochoroidopathy Vitelliform macular dystrophy 2 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA227791	rs_62639356	7 SubmittersRCV000086147 RCV000320452 RCV000265298 RCV000378739
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)	SNV Germline	Chr11:61957402	Pathogenic/Likely pathogenic	Condition: not provided Vitelliform macular dystrophy 2 Autosomal recessive bestrophinopathy Vitelliform macular dystrophy 2 Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa 50 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227795	rs_281865238	7 SubmittersRCV000086150 RCV000787543 RCV000763263 RCV001073491
NM_014336.5(AIPL1):c.234C>T (p.Ser78=)	SNV Germline	Chr17:6433961	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 4 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA227868	rs_62635774	4 SubmittersRCV000086214 RCV000363858 RCV001078533 RCV001125502
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, Recessive Retinitis Pigmentosa, Dominant Leber congenital amaurosis 4 not specified	Criteria Provided Conflicting Classifications	CA227901	rs_140124986	5 SubmittersRCV000086237 RCV000303893 RCV000360989 RCV001080115 RCV001699204
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	SNV Germline	Chr12:88083077	Pathogenic/Likely pathogenic	Condition: not provided CEP290-related disorder Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Leber congenital amaurosis Senior-Loken syndrome 6 Retinitis pigmentosa Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227975	rs_62638179	8 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)	SNV Germline	Chr1:197356990	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis Leber congenital amaurosis 8 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy	Criteria Provided Multiple Submitters No Conflicts	CA227987	rs_62645754	7 SubmittersRCV000086304 RCV001002989 RCV001250593 RCV001857423 RCV002498468 RCV003453010 RCV003453011
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 RCV003764799 RCV003474690
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 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	8 SubmittersRCV000086308 RCV001376374 RCV001826777 RCV003453013 RCV000797320 RCV003235040 RCV003453012
NM_201253.3(CRB1):c.1647T>C (p.Asn549=)	SNV Germline	Chr1:197421475	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA227996	rs_62636283	5 SubmittersRCV000086310 RCV000283110 RCV000378808 RCV000324209 RCV001084432
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)	SNV Germline	Chr1:197421870	Pathogenic	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Multiple Submitters No Conflicts	CA228000	rs_62636266	7 SubmittersRCV000086312 RCV001046839 RCV001831900 RCV003453016 RCV003453015

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

SNV
Germline

Chr2:61840319

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251355

rs_267606794

9 SubmittersRCV000000052 RCV001074032 RCV001090971 RCV001257835

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

SNV
Germline

Chr2:61839695

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA233978

rs_200691042

21 SubmittersRCV000000053 RCV000153226 RCV000678572 RCV000778621 RCV000787604

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

15 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

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

5 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

14 SubmittersRCV000000568 RCV000593252 RCV001075385 RCV001723527 RCV003914789

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

SNV
Germline

Chr4:15563485

Pathogenic

COACH syndrome 2
Joubert syndrome 9/15, digenic
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
See cases
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA129544

rs_386833750

6 SubmittersRCV000000783 RCV000023922 RCV000199602 RCV000578695 RCV002251848 RCV002476904

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

Retinitis pigmentosa 42
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA221427

rs_137853113

9 SubmittersRCV000001064 RCV000079374 RCV001003071 RCV001073803

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

SNV
Germline

Chr7:23140783

Pathogenic

Retinitis pigmentosa 42

No Assertion Criteria Provided

CA251666

rs_137853114

1 SubmittersRCV000001065

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

SNV
Germline

Chr8:43159045

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114861

rs_193066451

7 SubmittersRCV000001289 RCV000763183 RCV000780343 RCV002512639

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

SNV
Germline

Chr8:43173740

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114863

rs_121908282

8 SubmittersRCV000001291 RCV000512873 RCV000763184 RCV000504894 RCV003330379

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

SNV
Germline

Chr8:43193824

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA114867

rs_121908284

3 SubmittersRCV000001293 RCV001378638 RCV003323346

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

SNV
Germline

Chr8:43158921

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Multiple Submitters
No Conflicts

CA114870

rs_483352896

6 SubmittersRCV000001295 RCV000586364 RCV001067306

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

SNV
Germline

Chr8:43182162

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA114871

rs_121908285

12 SubmittersRCV000001296 RCV001699017 RCV003114169 RCV003887846 RCV000799182 RCV001030801

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

Criteria Provided
Multiple Submitters
No Conflicts

CA150917

rs_137852832

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

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

SNV
Germline

Chr12:88101183

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227965

rs_281865192

24 SubmittersRCV000001400 RCV000086286 RCV000558460 RCV000763315 RCV000988884 RCV000678535 RCV001196010 RCV001075828 RCV001255341 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

8 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

Criteria Provided
Conflicting Classifications

CA234554

rs_76024428

10 SubmittersRCV000002071 RCV000153697 RCV000512878 RCV000787861 RCV003934792

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

Criteria Provided
Single Submitter

CA252067

rs_104893678

3 SubmittersRCV000002120 RCV001002871 RCV002512667

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

SNV
Germline

Chr3:97791797

Pathogenic

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

Criteria Provided
Single Submitter

CA115313

rs_104893679

2 SubmittersRCV000002122 RCV000002121 RCV002512668

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

SNV
Germline

Chr3:97768199

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252069

rs_104893680

4 SubmittersRCV000002123 RCV001723532 RCV001851573 RCV003133114

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

SNV
Germline

Chr3:97768199

Pathogenic

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

Criteria Provided
Single Submitter

CA252073

rs_104893680

2 SubmittersRCV000002125 RCV001063683

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252083

rs_104894474

6 SubmittersRCV000002132 RCV000787672 RCV001091054

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

SNV
Germline

Chr14:67726983

Pathogenic

Leber congenital amaurosis 13
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252087

rs_104894475

6 SubmittersRCV000002135 RCV000787674 RCV001171675

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

17 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

Conflicting classifications of pathogenicity

Retinitis pigmentosa 53
Retinitis pigmentosa
Retinal dystrophy
Leber congenital amaurosis 13
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA115315

rs_202126574

9 SubmittersRCV000002142 RCV000132691 RCV001073666 RCV001223788 RCV003155010 RCV001558134

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

SNV
Germline

Chr8:10623069

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA115397

rs_267607017

15 SubmittersRCV000002277 RCV000726920 RCV001074376 RCV001197672

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

Reviewed By Expert Panel

CA252231

rs_121912599

10 SubmittersRCV000002449 RCV000303941 RCV001004780 RCV001074393 RCV000824798 RCV003460406

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

SNV
Germline

Chr1:216247118

Pathogenic

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

Reviewed By Expert Panel

CA252233

rs_80338902

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

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

SNV
Germline

Chr1:215728232

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252235

rs_111033364

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

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

SNV
Germline

Chr1:216325499

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252237

rs_111033272

17 SubmittersRCV000002452 RCV000412796 RCV000763297 RCV000824799 RCV000984234 RCV001075725 RCV000627017 RCV001199595

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

SNV
Germline

Chr1:216324240

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252239

rs_121912600

22 SubmittersRCV000002453 RCV000504809 RCV000224697 RCV000984315 RCV000824795 RCV001074823 RCV000778222 RCV002482817

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

SNV
Germline

Chr1:216247185

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252242

rs_111033334

12 SubmittersRCV000002457 RCV000002456 RCV000725261 RCV000824794 RCV001003279

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252246

rs_121909398

27 SubmittersRCV000002460 RCV000504807 RCV000626731 RCV000678538 RCV000725950 RCV000504646 RCV002251860 RCV003407259

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

SNV
Germline

Chr14:88841196

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 8
Postaxial foot polydactyly
Truncal obesity
Intellectual disability, moderate
Bardet-Biedl syndrome
Retinitis pigmentosa 51
Retinal dystrophy
TTC8-related disorder

Criteria Provided
Conflicting Classifications

CA339995

rs_119103286

10 SubmittersRCV000002639 RCV000415339 RCV000203928 RCV001197566 RCV001074706 RCV003415630

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

SNV
Germline

Chr14:88833691

Pathogenic

Retinitis pigmentosa 51

No Assertion Criteria Provided

CA339998

rs_587777809

1 SubmittersRCV000002641

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

SNV
Germline

Chr11:61956960

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA115725

rs_121918286

3 SubmittersRCV000002864 RCV001202565 RCV002490299

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
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA115732

rs_267606676

7 SubmittersRCV000002871 RCV001073474 RCV000417725 RCV000787545

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

Conflicting classifications of pathogenicity

Retinitis pigmentosa 18
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA252736

rs_121434241

7 SubmittersRCV000003516 RCV000726757 RCV001003129 RCV001074785

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

SNV
Germline

Chr1:150344212

Pathogenic

Retinitis pigmentosa 18
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252737

rs_121434242

3 SubmittersRCV000003517 RCV001565464

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
Condition: not provided
Macular dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252815

rs_267606875

4 SubmittersRCV000003727 RCV001053603 RCV000787843 RCV003887852

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

SNV
Germline

Chr3:101304277

Pathogenic

Vitelliform macular dystrophy 5
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Single Submitter

CA116343

rs_201893545

3 SubmittersRCV000003728 RCV001053107 RCV001003057

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

SNV
Germline

Chr1:46192397

Pathogenic/Likely pathogenic

Condition: not provided
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
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
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA116547

rs_28940869

10 SubmittersRCV000150001 RCV000984210 RCV000984301 RCV000984302 RCV001219572 RCV000984303 RCV001847573 RCV002222337 RCV002512738

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116550

rs_193919337

6 SubmittersRCV000240891 RCV001529546 RCV001390610 RCV001847575 RCV004566681

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

Criteria Provided
Conflicting Classifications

CA116557

rs_74374973

14 SubmittersRCV000004204 RCV000081801 RCV000671438 RCV000710195 RCV001082774 RCV001579237 RCV001449938 RCV001097781 RCV001579238

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
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
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
POMGNT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116564

rs_267606960

11 SubmittersRCV000004207 RCV000411094 RCV000798530 RCV001091843 RCV002476922 RCV002512742 RCV003460424 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
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA253135

rs_587776590

4 SubmittersRCV000004608 RCV001851647 RCV001073395

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
Retinitis pigmentosa 61
Retinitis pigmentosa
Usher syndrome type 3A
Rare genetic deafness
Retinitis pigmentosa 61
Hearing impairment
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA000001

rs_121908140

15 SubmittersRCV000004642 RCV000724158 RCV002496258 RCV000844623 RCV003466811 RCV001375084 RCV002247246

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116834

rs_111033267

11 SubmittersRCV000004647 RCV000844690 RCV000505037 RCV001384937 RCV001376502 RCV003466814 RCV003407275

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

SNV
Germline

Chr3:150972591

Conflicting classifications of pathogenicity

Usher syndrome type 3
Retinal dystrophy
Condition: not provided
Usher syndrome
Usher syndrome type 3A
Retinitis pigmentosa 61

Criteria Provided
Conflicting Classifications

CA116839

rs_121908143

12 SubmittersRCV000004649 RCV001075346 RCV000414238 RCV002468960 RCV001273484 RCV003466815

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

SNV
Germline

Chr20:3918695

Pathogenic

Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Inborn genetic diseases
Condition: not provided
Retinitis pigmentosa
Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA116915

rs_137852959

17 SubmittersRCV000004807 RCV000132732 RCV000190815 RCV000224470 RCV001588799 RCV002496261

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116926

rs_121908175

10 SubmittersRCV000004832 RCV000412476 RCV000589350 RCV000787792 RCV001074960 RCV000762970

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

SNV
Germline

Chr16:56514623

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253235

rs_121908176

9 SubmittersRCV000004833 RCV000587533 RCV003441704 RCV002490314

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
Retinal dystrophy
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
BBS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253237

rs_121908177

15 SubmittersRCV000004834 RCV000269226 RCV000493074 RCV001074104 RCV000762967 RCV002466394 RCV004528072

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

SNV
Germline

Chr16:56502454

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116928

rs_121908178

7 SubmittersRCV000004835 RCV001226053 RCV000675099 RCV001257834 RCV003887853

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

SNV
Germline

Chr16:56514487

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116932

rs_121908179

11 SubmittersRCV000004839 RCV000190985 RCV000665304 RCV000762969 RCV000587645 RCV001002876 RCV001582466 RCV004532290

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
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA060272

rs_138043021

15 SubmittersRCV000004840 RCV000380902 RCV000190986 RCV001002874 RCV001073916 RCV000589221 RCV001268711 RCV002490315 RCV002512776

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
Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA253474

rs_119489105

4 SubmittersRCV000005733 RCV001054980 RCV001257901 RCV001723542

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

SNV
Germline

Chr2:112019523

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253476

rs_371956016

9 SubmittersRCV000005734 RCV000624145 RCV001073654 RCV001208965 RCV001257903 RCV003324483

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

SNV
Germline

Chr15:71811590

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA117571

rs_104894492

6 SubmittersRCV000005866 RCV001048873 RCV003323352 RCV003887854

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

SNV
Germline

Chr15:71811591

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA117573

rs_104894493

16 SubmittersRCV000005867 RCV000261496 RCV000668029 RCV001045323 RCV001449793 RCV001075864

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

SNV
Germline

Chr15:71813573

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA117575

rs_28937873

23 SubmittersRCV000005869 RCV000005870 RCV000171240 RCV000393548 RCV000668086 RCV001074891 RCV001095701 RCV000787633 RCV001374877 RCV001257807

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

SNV
Germline

Chr15:71811530

Pathogenic/Likely pathogenic

Retinitis pigmentosa 37
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA253522

rs_121912631

11 SubmittersRCV000005871 RCV000286602 RCV000787628 RCV001075751

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

SNV
Germline

Chr17:6425781

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227899

rs_62637014

23 SubmittersRCV000005906 RCV000086235 RCV000505017 RCV000365317 RCV001074840 RCV002496274

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

SNV
Germline

Chr4:15994028

Pathogenic

Retinitis pigmentosa 41
Retinal dystrophy
Retinitis pigmentosa

No Assertion Criteria Provided

CA253536

rs_137853005

3 SubmittersRCV000005959 RCV000210292 RCV000504792

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

SNV
Germline

Chr4:16013299

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA117645

rs_137853006

16 SubmittersRCV000005960 RCV000005961 RCV000005962 RCV000479499 RCV000504765 RCV000787648 RCV000787649 RCV002496275 RCV001723543

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

SNV
Germline

Chr1:197434985

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA228031

rs_62635656

8 SubmittersRCV000006084 RCV000086336 RCV001045972 RCV001250615 RCV001075294 RCV003450614 RCV004528086

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
Macular dystrophy
Retinitis pigmentosa
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
CRB1-related maculopathy
Retinitis pigmentosa-deafness syndrome
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA228006

rs_62635654

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

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

SNV
Germline

Chr1:197427559

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA228003

rs_28939720

22 SubmittersRCV000006087 RCV000086315 RCV000787576 RCV000809110 RCV001074789 RCV001196030 RCV001257864 RCV001250601 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
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA203531

rs_137853137

14 SubmittersRCV000006090 RCV000787578 RCV000787826 RCV000578757 RCV000691427 RCV001275651 RCV001250606 RCV002504753 RCV003450616

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

SNV
Germline

Chr1:197435404

Pathogenic

Retinitis pigmentosa 12
Condition: not provided

No Assertion Criteria Provided

CA228041

rs_62636291

2 SubmittersRCV000006091 RCV000086346

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
Early-onset retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA117711

rs_62636275

14 SubmittersRCV000006093 RCV000006094 RCV000086341 RCV000786009 RCV000648818 RCV001002998 RCV003450617 RCV001073404

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

SNV
Germline

Chr8:54625911

Pathogenic

Retinitis pigmentosa 1
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA253665

rs_104894082

11 SubmittersRCV000006329 RCV000255140 RCV001074787

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

Retinitis pigmentosa 14
Condition: not provided

Criteria Provided
Single Submitter

CA227700

rs_121909073

3 SubmittersRCV000007782 RCV000086066

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

SNV
Germline

Chr6:35500100

Likely pathogenic

Retinitis pigmentosa 14
Condition: not provided

Criteria Provided
Single Submitter

CA254155

rs_121909075

2 SubmittersRCV000007784 RCV002512878

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

SNV
Germline

Chr6:35503816

Pathogenic

Retinitis pigmentosa 14
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA254156

rs_121909076

4 SubmittersRCV000007787 RCV000132649 RCV003887856 RCV002512879

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

SNV
Germline

Chr6:35500032

Conflicting classifications of pathogenicity

Retinitis pigmentosa 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA254157

rs_121909077

3 SubmittersRCV000007788 RCV001386009

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

SNV
Germline

Chr6:35509632

Pathogenic

Retinitis pigmentosa 14
Condition: not provided

Criteria Provided
Single Submitter

rs_1581742970

2 SubmittersRCV000007790 RCV003555962

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

SNV
Germline

Chr6:42185686

Conflicting classifications of pathogenicity

Retinitis pigmentosa 48
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA232839

rs_121909124

6 SubmittersRCV000007794 RCV000343566 RCV000132648 RCV003887857

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

SNV
Germline

Chr19:47836263

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA118790

rs_104894672

11 SubmittersRCV000007843 RCV000085989 RCV001073396 RCV001386169 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
Phytanic acid storage disease
Retinitis pigmentosa
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA118904

rs_104894178

14 SubmittersRCV000008018 RCV000255609 RCV000665657 RCV000505105 RCV002426496

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

SNV
Germline

Chr10:13295608

Pathogenic

Refsum disease, adult, 1
Condition: not provided
Phytanic acid storage disease
Retinitis pigmentosa
PHYH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA212871

rs_201578674

10 SubmittersRCV000008019 RCV000599568 RCV000660487 RCV001723551 RCV003407301

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

SNV
Germline

Chr1:94051698

Pathogenic/Likely pathogenic/Pathogenic, low penetrance

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119128

rs_76157638

32 SubmittersRCV000008328 RCV000008329 RCV000085494 RCV000623365 RCV000415097 RCV000787487 RCV000505063 RCV000787486 RCV001198385 RCV000787768 RCV001535670 RCV004532312 RCV004558239 RCV003224856

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
Retinal dystrophy
Stargardt disease
not specified
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

CA227031

rs_58331765

11 SubmittersRCV000008330 RCV000085506 RCV001073603 RCV001002838 RCV002247267 RCV001807722

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

Criteria Provided
Conflicting Classifications

CA220688

rs_41292677

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

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

SNV
Germline

Chr1:94008251

Pathogenic/Likely pathogenic/Pathogenic, low penetrance

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119132

rs_1800553

49 SubmittersRCV000008339 RCV000008340 RCV000008341 RCV000078670 RCV000273328 RCV000504952 RCV000678513 RCV000624210 RCV000787514 RCV000505149 RCV001542557 RCV001254602 RCV001731281 RCV003324710 RCV002247269 RCV004584319

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

SNV
Germline

Chr1:94043413

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119135

rs_61751374

29 SubmittersRCV000008348 RCV000008350 RCV000085549 RCV000505109 RCV000763046 RCV000787493 RCV000787494 RCV001000014 RCV000787495 RCV001196125 RCV000778259

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
Retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA203216

rs_61750200

19 SubmittersRCV000008355 RCV000085812 RCV000179293 RCV000787521 RCV001074780 RCV000763050 RCV004558240

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

SNV
Germline

Chr1:94063250

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226911

rs_61751392

23 SubmittersRCV000085410 RCV000408513 RCV000505133 RCV000504750 RCV000787482 RCV000787481 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
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA129033

rs_61750130

20 SubmittersRCV000008362 RCV000023139 RCV000078666 RCV000454310 RCV000787498 RCV000763044 RCV001075868 RCV000778258

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

SNV
Germline

Chr1:94005500

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119140

rs_61751383

19 SubmittersRCV000008365 RCV000085786 RCV000787773 RCV000763437 RCV000504794 RCV000505162 RCV001542555 RCV002512903 RCV003447472 RCV004528093

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

Criteria Provided
Conflicting Classifications

CA119146

rs_1801581

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

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

SNV
Germline

Chr2:96287968

Conflicting classifications of pathogenicity

Retinitis pigmentosa 33
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA254265

rs_267607077

8 SubmittersRCV000008390 RCV000505052 RCV001075824 RCV001091895

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

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

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

Criteria Provided
Single Submitter

CA120135

rs_121917849

3 SubmittersRCV000009708 RCV000055795

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

SNV
Germline

Chr10:84247707

Conflicting classifications of pathogenicity

Retinitis pigmentosa 44
Condition: not provided
Cone dystrophy

Criteria Provided
Conflicting Classifications

CA241383

rs_104894187

6 SubmittersRCV000009759 RCV000175649 RCV000626831

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)
Cone dystrophy
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Macular dystrophy
Visual impairment
Retinitis pigmentosa
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226086

rs_61750173

19 SubmittersRCV000009951 RCV000084863 RCV000504851 RCV000787614 RCV001003043 RCV001228516 RCV001271114 RCV001723556 RCV003324497

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.389T>G (p.Phe130Cys)

SNV
Germline

ChrX:38318909

Pathogenic/Likely pathogenic

Retinitis pigmentosa 3
Condition: not provided

No Assertion Criteria Provided

CA226418

rs_62638644

4 SubmittersRCV000010575 RCV000085105

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

SNV
Germline

ChrX:38310690

Pathogenic

Retinitis pigmentosa 3
Condition: not provided

No Assertion Criteria Provided

CA226435

rs_62638651

2 SubmittersRCV000010576 RCV000085116

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

Criteria Provided
Single Submitter

CA226447

rs_62642057

4 SubmittersRCV000010577 RCV000085125 RCV001003203 RCV002512961

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

SNV
Germline

ChrX:38322921

Pathogenic

Retinitis pigmentosa 3
Condition: not provided
Primary ciliary dyskinesia
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226376

rs_62638634

7 SubmittersRCV000010580 RCV000085072 RCV000822760 RCV001074755

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
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA254931

rs_137852549

3 SubmittersRCV000010586 RCV003534308 RCV002464059

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

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
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA255301

rs_28933687

6 SubmittersRCV000011292 RCV001215347 RCV001075110

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

10 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
Condition: not provided
Hearing loss, autosomal recessive
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA277965

rs_35689081

8 SubmittersRCV000012634 RCV000154341 RCV000665804 RCV001226256 RCV001291462 RCV000787856

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

SNV
Germline

Chr11:66526181

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA223760

rs_113624356

49 SubmittersRCV000012926 RCV000082202 RCV000210319 RCV000174408 RCV000504693 RCV000787785 RCV002251900 RCV002513000 RCV003390672

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

SNV
Germline

Chr11:66531692

Pathogenic/Likely 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
Congenital stationary night blindness autosomal dominant 1
Pigmentary retinal dystrophy
Retinitis pigmentosa 4
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256661

rs_104893768

7 SubmittersRCV000013887 RCV000490234 RCV000763095 RCV001075876

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

SNV
Germline

Chr3:129533711

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA256662

rs_29001566

15 SubmittersRCV000013888 RCV000504743 RCV000490027 RCV000626702 RCV001075874 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

Criteria Provided
Multiple Submitters
No Conflicts

CA256664

rs_28933394

8 SubmittersRCV000013890 RCV001074373 RCV001384460

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

SNV
Germline

Chr3:129528783

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA256665

rs_104893769

9 SubmittersRCV000013892 RCV000787682 RCV001075619 RCV001002098 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

Criteria Provided
Multiple Submitters
No Conflicts

CA256668

rs_104893772

6 SubmittersRCV000013895 RCV001003167 RCV001213959 RCV001813740

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

SNV
Germline

Chr3:129529049

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256669

rs_104893773

3 SubmittersRCV000013896 RCV001857345 RCV001073422

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

7 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

Criteria Provided
Multiple Submitters
No Conflicts

CA256672

rs_104893776

6 SubmittersRCV000013899 RCV000787683 RCV001229671

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 pigmentosa 4
Retinitis punctata albescens
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA122819

rs_104893775

11 SubmittersRCV000013902 RCV000013903 RCV000132597 RCV000413771 RCV001074272

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

5 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
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA256678

rs_29001566

3 SubmittersRCV000013907 RCV001003173 RCV001382064

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
Single Submitter

CA256682

rs_28933395

4 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

9 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

Retinitis pigmentosa 4
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256685

rs_104893786

7 SubmittersRCV000013917 RCV000132598 RCV001203907

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

Criteria Provided
Multiple Submitters
No Conflicts

CA122824

rs_104893791

4 SubmittersRCV000013921 RCV001045970 RCV001265186 RCV003105773

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

Criteria Provided
Single Submitter

CA256689

rs_104893793

2 SubmittersRCV000013924 RCV001381859

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

4 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

Criteria Provided
Multiple Submitters
No Conflicts

CA256697

rs_104893795

3 SubmittersRCV000013931 RCV001045798

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
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA122838

rs_137853290

5 SubmittersRCV000013973 RCV000013974 RCV001257814 RCV001731283 RCV001857347

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

SNV
Germline

Chr15:89210794

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA122839

rs_28933990

7 SubmittersRCV000013979 RCV000013978 RCV000345884 RCV001003174 RCV001387783 RCV003887865

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

SNV
Germline

Chr15:89211750

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA122840

rs_137853291

7 SubmittersRCV000013980 RCV000394737 RCV000504975 RCV001073560 RCV001387784

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

SNV
Germline

Chr17:81651644

Pathogenic

Retinitis pigmentosa 57
Retinitis pigmentosa

No Assertion Criteria Provided

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

11 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/Likely 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

5 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

Likely 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
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226577

rs_61752895

8 SubmittersRCV000013993 RCV000085219 RCV001236263 RCV001831567 RCV001376448 RCV003460467

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
RPE65-related disorder
Leber congenital amaurosis
Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis 2
Leber congenital amaurosis
Autosomal recessive retinitis pigmentosa
Abnormality of the eye

Criteria Provided
Multiple Submitters
No Conflicts

CA226531

rs_61752871

16 SubmittersRCV000013994 RCV000085184 RCV000527143 RCV000787698 RCV001095690 RCV001073556 RCV001250682 RCV001275337 RCV001257818 RCV001813981

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

SNV
Germline

Chr1:68431160

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA226509

rs_62637004

5 SubmittersRCV000013995 RCV000085169 RCV001304649 RCV003114190

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

SNV
Germline

Chr1:68438228

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA256730

rs_121917744

7 SubmittersRCV000013996 RCV001250693 RCV000815732 RCV001826460 RCV003460468

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

SNV
Germline

Chr1:68438293

Pathogenic

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

Reviewed By Expert Panel

CA226472

rs_61752909

13 SubmittersRCV000013997 RCV000085141 RCV000986328 RCV001047062 RCV001831568 RCV002496352 RCV003764564

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 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Retinal dystrophy
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226519

rs_121917745

10 SubmittersRCV000013999 RCV000014000 RCV000085176 RCV000132583 RCV000816506 RCV001826461 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
Retinitis pigmentosa
Retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium

Criteria Provided
Multiple Submitters
No Conflicts

CA226285

rs_61755806

9 SubmittersRCV000014050 RCV000085007 RCV001063368 RCV001003142 RCV001075781 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA122930

rs_61755793

12 SubmittersRCV000014053 RCV000084982 RCV000787663 RCV001054658 RCV000787664 RCV001074392 RCV001250353 RCV001250367 RCV001799605

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

SNV
Germline

Chr6:42721821

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA122936

rs_61755792

14 SubmittersRCV000014056 RCV000084981 RCV001003147 RCV001049315 RCV001250350 RCV001250352 RCV001352972 RCV001250351 RCV001250348 RCV001250349 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 macular dystrophy 1
PRPH2-related disorder
Retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium
Stargardt disease
Choroidal dystrophy, central areolar 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226209

rs_61755771

13 SubmittersRCV000014067 RCV000084955 RCV000987699 RCV001039794 RCV001075450 RCV001250291 RCV001250276 RCV003987319

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

SNV
Germline

Chr6:42721817

Pathogenic/Likely pathogenic

Retinitis pigmentosa 7
Condition: not provided

No Assertion Criteria Provided

CA226248

rs_61755794

3 SubmittersRCV000014069 RCV000084983

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)
maculopathy
PRPH2-related disorder
Stargardt disease
Retinitis pigmentosa
Retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium
Patterned macular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA122946

rs_61755783

17 SubmittersRCV000014071 RCV000084971 RCV000678606 RCV000787661 RCV001003149 RCV001061048 RCV001250318 RCV001250320 RCV001075677 RCV001250319 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
Macular dystrophy
Cone-rod dystrophy
Retinitis pigmentosa
See cases
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 49

Criteria Provided
Multiple Submitters
No Conflicts

CA126990

rs_62625014

18 SubmittersRCV000018440 RCV000787817 RCV000787818 RCV000778730 RCV001197999 RCV001059719 RCV001073687 RCV002504802

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

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

Criteria Provided
Conflicting Classifications

CA258044

rs_104894559

4 SubmittersRCV000019173 RCV000336591 RCV001247433 RCV003914854

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

SNV
Germline

Chr17:60156653

Conflicting classifications of pathogenicity

Retinitis pigmentosa 17
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA258046

rs_121434552

3 SubmittersRCV000019175 RCV002513116 RCV003887874

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
Single Submitter

CA115240

rs_267606820

2 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

6 SubmittersRCV000001935 RCV002513132 RCV002513131

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

SNV
Germline

Chr6:10802005

Pathogenic

Retinitis pigmentosa 62

No Assertion Criteria Provided

rs_779514800

1 SubmittersRCV000022648

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

SNV
Germline

Chr6:10808913

Pathogenic

Retinitis pigmentosa 62

No Assertion Criteria Provided

CA259647

rs_387906646

1 SubmittersRCV000022649

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
RPE65-related disorder
Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226484

rs_62653011

14 SubmittersRCV000022749 RCV000022750 RCV000085150 RCV000348257 RCV000787920 RCV001054423 RCV001275328 RCV003764626

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

SNV
Germline

Chr1:68439033

Pathogenic

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

Reviewed By Expert Panel

CA226589

rs_61752904

7 SubmittersRCV000022753 RCV000085231 RCV002513174 RCV002490403 RCV003764627

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

SNV
Germline

Chr1:68431328

Likely pathogenic

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

Reviewed By Expert Panel

CA226500

rs_62636300

7 SubmittersRCV000022754 RCV000085161 RCV001054426 RCV003317042 RCV003764628

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

Criteria Provided
Single Submitter

CA358695

rs_869320618

2 SubmittersRCV000022756 RCV001381858

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

6 SubmittersRCV000023141 RCV000085574 RCV000504768 RCV001073572

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

rs_1911001854

2 SubmittersRCV000023644 RCV002513199

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

SNV
Germline

Chr1:26438228

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA259894

rs_147394623

17 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
Retinitis pigmentosa 39
Usher syndrome type 2A
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

22 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

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

7 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
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
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

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

Criteria Provided
Single Submitter

CA260013

rs_387907136

4 SubmittersRCV000024193 RCV000477682 RCV001257837 RCV001002908 RCV002228055

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

SNV
Germline

Chr8:95247696

Pathogenic

Retinitis pigmentosa 64
Retinitis pigmentosa

No Assertion Criteria Provided

CA129739

rs_387907137

2 SubmittersRCV000024194 RCV001002907

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

SNV
Germline

Chr16:1564074

Pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129885

rs_387907192

5 SubmittersRCV000024359 RCV000515561 RCV001781315

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
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA129886

rs_376586707

9 SubmittersRCV000024360 RCV000515584 RCV001075306 RCV001536095 RCV001818178 RCV003924859 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
Nephronophthisis
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

CA129889

rs_201188361

13 SubmittersRCV000024363 RCV000255441 RCV000515934 RCV001328311 RCV000626465 RCV001249674

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

7 SubmittersRCV000030701 RCV001003124 RCV001075439 RCV001268748

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

SNV
Germline

Chr2:111898797

Pathogenic

Retinitis pigmentosa 38

No Assertion Criteria Provided

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

Criteria Provided
Single Submitter

CA260612

rs_387907314

3 SubmittersRCV000030845 RCV001257797 RCV001852614

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Cone dystrophy
CRB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA228022

rs_62645748

28 SubmittersRCV000032814 RCV000032815 RCV000086331 RCV000505155 RCV000762874 RCV000554663 RCV001275657 RCV001097540 RCV000787579 RCV003324500 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

Orofaciodigital syndrome I
Familial aplasia of the vermis
Orofaciodigital syndrome I
Joubert syndrome 10
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2

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
Oguchi disease-1
Oguchi disease-1
Retinitis pigmentosa 47
Retinitis pigmentosa 47

Criteria Provided
Multiple Submitters
No Conflicts

CA130895

rs_201153410

10 SubmittersRCV000034821 RCV001040357 RCV001073952 RCV001270292 RCV002272037 RCV002477062 RCV003224859

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
Condition: not provided
Retinitis pigmentosa-deafness syndrome
Neurodevelopmental abnormality
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
CDH23-related disorder
Pituitary adenoma 5, multiple types
Rare genetic deafness

Criteria Provided
Conflicting Classifications

CA261801

rs_202052174

18 SubmittersRCV000039276 RCV000725220 RCV000988383 RCV001264702 RCV001374881 RCV001559300 RCV003483451 RCV004528197 RCV003473285 RCV004017329

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
ADGRV1-related disorder
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA138098

rs_190922596

10 SubmittersRCV000039568 RCV000146077 RCV000954914 RCV001151213 RCV004549464 RCV003389449

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

SNV
Germline

Chr3:150941647

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA142688

rs_374963432

7 SubmittersRCV000041436 RCV000844624 RCV001071445 RCV001582535 RCV002243688 RCV003466890

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

SNV
Germline

Chr1:216325448

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143213

rs_397517963

6 SubmittersRCV000041663 RCV000670778 RCV001074760 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
Usher syndrome
Rare genetic deafness
Retinal dystrophy
Retinitis pigmentosa

Reviewed By Expert Panel

CA262054

rs_369522997

12 SubmittersRCV000041668 RCV000411779 RCV000727128 RCV000710349 RCV000824797 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

Criteria Provided
Multiple Submitters
No Conflicts

CA262056

rs_111033379

7 SubmittersRCV000041669 RCV000670189 RCV000802347 RCV001353056 RCV003450731

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

SNV
Germline

Chr1:215782806

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143221

rs_397517966

3 SubmittersRCV000041670 RCV000669162 RCV001350663

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

SNV
Germline

Chr1:215782762

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262058

rs_111033264

17 SubmittersRCV000041673 RCV000504880 RCV000665210 RCV000824783 RCV001056065 RCV001074824 RCV001376413 RCV002287354

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

SNV
Germline

Chr1:215782738

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143227

rs_111033439

4 SubmittersRCV000041674 RCV000667791 RCV001852852 RCV003466892

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

SNV
Germline

Chr1:215782070

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262060

rs_202175091

15 SubmittersRCV000041676 RCV000804464 RCV000666226 RCV001073629 RCV000824782 RCV001293034 RCV003324502 RCV001544538 RCV003323372

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

SNV
Germline

Chr1:215782058

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262062

rs_111033265

5 SubmittersRCV000041677 RCV001073926 RCV002496659 RCV003450738 RCV001852854 RCV003450737

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

Criteria Provided
Conflicting Classifications

CA143239

rs_397517969

3 SubmittersRCV000041683 RCV000666661 RCV002514158

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

SNV
Germline

Chr1:216325304

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262069

rs_397517974

4 SubmittersRCV000041697 RCV001199582 RCV003445116 RCV003445115

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

SNV
Germline

Chr1:216324317

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143271

rs_148447919

10 SubmittersRCV000041704 RCV000308355 RCV000360778 RCV000890954

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

Criteria Provided
Conflicting Classifications

CA143275

rs_142381713

10 SubmittersRCV000041707 RCV000725418 RCV000986519 RCV001579153

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

SNV
Germline

Chr1:215728142

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262070

rs_397517976

7 SubmittersRCV000041710 RCV000669396 RCV001075329 RCV001852856 RCV003226175 RCV003450756 RCV003450757

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

SNV
Germline

Chr1:215680377

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262072

rs_397517977

5 SubmittersRCV000041711 RCV000670110 RCV001852857 RCV003445117 RCV003445118

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

SNV
Germline

Chr1:215680378

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262073

rs_397517978

15 SubmittersRCV000390593 RCV000412841 RCV000666727 RCV001003259 RCV000983997 RCV001073917 RCV001271128

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

SNV
Germline

Chr1:215675618

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262074

rs_151148854

8 SubmittersRCV000041714 RCV000670554 RCV001057968 RCV001074339 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

Reviewed By Expert Panel

CA143283

rs_111033518

10 SubmittersRCV000041717 RCV000414389 RCV000675157 RCV001004773 RCV001074786 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
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143284

rs_142095945

7 SubmittersRCV000041718 RCV001241616 RCV001270357 RCV001274935 RCV001376289 RCV002496660

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

SNV
Germline

Chr1:215675043

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262082

rs_397517983

5 SubmittersRCV000041731 RCV000670430 RCV000819445 RCV001074436 RCV003450770 RCV003450771

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
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA262086

rs_111033417

5 SubmittersRCV000041739 RCV001073672 RCV003450773 RCV002514159

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

SNV
Germline

Chr1:215674202

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143326

rs_730254

12 SubmittersRCV000041745 RCV000585560 RCV001272941 RCV001376370 RCV003887893

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

SNV
Germline

Chr1:215671004

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143336

rs_372966682

4 SubmittersRCV000041751 RCV001245454 RCV001272937 RCV001376435

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA262091

rs_397517990

7 SubmittersRCV000041756 RCV000665736 RCV001057445 RCV001198544 RCV003887895 RCV003450788

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

SNV
Germline

Chr1:216323590

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143350

rs_35730265

13 SubmittersRCV000041760 RCV000828962 RCV001099108 RCV001099109 RCV003887896

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

SNV
Germline

Chr1:215648594

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143356

rs_139065588

6 SubmittersRCV000041763 RCV000665634 RCV001034422 RCV001272933 RCV001579147 RCV003887899

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262093

rs_397517994

7 SubmittersRCV000041772 RCV000671978 RCV000787726 RCV003450801 RCV001852859 RCV003450802 RCV003114221

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

SNV
Germline

Chr1:215628969

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143395

rs_111033402

6 SubmittersRCV001247642 RCV001810412 RCV002483032

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

7 SubmittersRCV000041788 RCV001276136 RCV002504925 RCV002513599 RCV003460550

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

SNV
Germline

Chr1:216321921

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262095

rs_111033273

14 SubmittersRCV000041794 RCV000413438 RCV000678646 RCV000787727 RCV000984314 RCV001074602 RCV002483034

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

15 SubmittersRCV000041795 RCV000415970 RCV001003284 RCV001101110 RCV001376290

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

SNV
Germline

Chr1:216289412

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262097

rs_397518003

13 SubmittersRCV000041799 RCV000270130 RCV000665036 RCV000984014 RCV001069761 RCV001271238 RCV001544537 RCV002470736

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA143433

rs_111033248

12 SubmittersRCV000041805 RCV000888471 RCV000986546 RCV001097279 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

Criteria Provided
Conflicting Classifications

CA143442

rs_111033481

10 SubmittersRCV000041814 RCV000946559 RCV000986544 RCV001098935

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

SNV
Germline

Chr1:216422073

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143454

rs_149304901

12 SubmittersRCV000041821 RCV000487811 RCV001097184 RCV001097185 RCV001578841

NM_206933.4(USH2A):c.313C>T (p.Leu105Phe)

SNV
Germline

Chr1:216422024

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143456

rs_375083165

4 SubmittersRCV000041822 RCV000668396 RCV001470222

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

SNV
Germline

Chr1:216207437

Likely pathogenic

Rare genetic deafness
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA143458

rs_397518010

3 SubmittersRCV000041823 RCV000505082 RCV003460551

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

SNV
Germline

Chr1:216207280

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262098

rs_397518011

9 SubmittersRCV000041825 RCV000669871 RCV000824791 RCV001074200 RCV001386859 RCV003450838

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

SNV
Germline

Chr1:216199817

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143465

rs_146462407

6 SubmittersRCV000041831 RCV000341412 RCV000394479 RCV000974887

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

SNV
Germline

Chr1:216199738

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143467

rs_200276882

5 SubmittersRCV000041832 RCV000291877 RCV000346771 RCV000669144 RCV002513602 RCV003162354

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

SNV
Germline

Chr1:216196698

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143476

rs_201709513

13 SubmittersRCV000041837 RCV000726718 RCV000665274 RCV001074345 RCV001376516 RCV002307377 RCV001723629 RCV003326116

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

SNV
Germline

Chr1:216175319

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143488

rs_148000219

13 SubmittersRCV000041844 RCV000724966 RCV001102384 RCV001102385

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

SNV
Germline

Chr1:216175293

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143494

rs_41303255

13 SubmittersRCV000041846 RCV000270447 RCV000324312 RCV000513149 RCV001073300

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

SNV
Germline

Chr1:216421859

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143499

rs_111033479

6 SubmittersRCV000041848 RCV000881175 RCV001099313 RCV001099314 RCV004537152

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

SNV
Germline

Chr1:216089061

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
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

8 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
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Childhood onset hearing loss

Criteria Provided
Conflicting Classifications

CA143523

rs_140895792

8 SubmittersRCV000041863 RCV000585075 RCV001276245 RCV001588861 RCV001543605

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

SNV
Germline

Chr1:216072958

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262107

rs_397518021

7 SubmittersRCV000041869 RCV000668739 RCV001289411 RCV003450858 RCV003450859

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

SNV
Germline

Chr1:216072887

Likely pathogenic

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

Reviewed By Expert Panel

CA262109

rs_397518022

9 SubmittersRCV000041870 RCV000295857 RCV000675153 RCV001004785 RCV001036145 RCV001074605 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

7 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
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143534

rs_41302239

18 SubmittersRCV000041872 RCV000504937 RCV000726918 RCV000765069 RCV001196428 RCV001579152

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

SNV
Germline

Chr1:216070175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA248657

rs_41303287

16 SubmittersRCV000041873 RCV000585540 RCV000669397 RCV000787924 RCV001273044 RCV004537154

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

SNV
Germline

Chr1:216070107

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143546

rs_111033514

8 SubmittersRCV000041879 RCV000664994 RCV000726921 RCV001273040

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

SNV
Germline

Chr1:216046532

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262111

rs_111033386

6 SubmittersRCV000041880 RCV001042426 RCV001073793 RCV001826597 RCV003450867

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

SNV
Germline

Chr1:215999058

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA262114

rs_397518026

16 SubmittersRCV000041890 RCV000408647 RCV000504825 RCV000675152 RCV001075204 RCV001826599 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
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143585

rs_200038092

10 SubmittersRCV000041902 RCV000490376 RCV000671627 RCV000924303

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
Usher syndrome type 2A
Retinitis pigmentosa 39
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

Criteria Provided
Conflicting Classifications

CA143603

rs_397518032

2 SubmittersRCV000041913 RCV000668816

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

SNV
Germline

Chr1:216422259

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143611

rs_59139861

4 SubmittersRCV000041917 RCV000888634 RCV001101304 RCV001101303

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
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA143613

rs_111033280

11 SubmittersRCV000041918 RCV000675158 RCV001074162 RCV001003288 RCV001060026 RCV001826601 RCV003450896

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

SNV
Germline

Chr1:216327619

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262118

rs_397518036

8 SubmittersRCV000041921 RCV000669898 RCV001852861 RCV003389452 RCV001831706 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
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143623

rs_143240767

9 SubmittersRCV000041924 RCV000490269 RCV000665134 RCV000937215 RCV001579280 RCV003888409

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

SNV
Germline

Chr1:215878891

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA262120

rs_111033529

6 SubmittersRCV000041927 RCV000505137 RCV000664665 RCV000937132 RCV001074998

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

SNV
Germline

Chr1:215877882

Pathogenic

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

Reviewed By Expert Panel

CA262122

rs_397518039

15 SubmittersRCV000041930 RCV000132715 RCV000665497 RCV000592589 RCV000710341 RCV000824785 RCV001075171 RCV003460553

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
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Surfactant metabolism dysfunction, pulmonary, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA262123

rs_397518041

12 SubmittersRCV000041937 RCV000504790 RCV000666550 RCV000760327 RCV001075814 RCV001273709 RCV001376393 RCV001193386 RCV003225026

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

SNV
Germline

Chr1:215844481

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA143644

rs_111033456

5 SubmittersRCV000041938 RCV000669262 RCV001248550 RCV001276962 RCV003389453

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

SNV
Germline

Chr1:215838058

Pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA262128

rs_397518046

4 SubmittersRCV000041947 RCV001588862 RCV001216340

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262130

rs_41308425

9 SubmittersRCV000041950 RCV000726813 RCV001002711 RCV001376451

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262131

rs_397518048

15 SubmittersRCV000041952 RCV000624783 RCV001003263 RCV001055909 RCV001074810 RCV001831709 RCV001723630 RCV002504928 RCV003387741 RCV003492342

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

SNV
Germline

Chr1:215817108

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262133

rs_73090721

10 SubmittersRCV000041954 RCV000674717 RCV001075710 RCV001273702 RCV001388971 RCV001778686 RCV003450911

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

SNV
Germline

Chr1:215799066

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa
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

CA262135

rs_111033263

9 SubmittersRCV000041960 RCV000787745 RCV000668014 RCV001075163 RCV001044836 RCV003450915 RCV003450916

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_017739.4(POMGNT1):c.1285-2A>G

SNV
Germline

Chr1:46192438

Pathogenic/Likely pathogenic

Muscle eye brain disease
POMGNT1-related disorder
Retinitis pigmentosa 76
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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA263941

rs_386834012

6 SubmittersRCV000049991 RCV000292476 RCV000983991 RCV000375211 RCV001853063 RCV002514260 RCV003460639

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

SNV
Germline

Chr1:46192379

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA263945

rs_386834014

6 SubmittersRCV000049993 RCV001542551 RCV002514261 RCV002514262 RCV003228903 RCV003460640

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

SNV
Germline

Chr1:46192097

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234711

rs_138642840

24 SubmittersRCV000049995 RCV000153760 RCV000323217 RCV000501155 RCV000648199 RCV000763345 RCV000983990 RCV001030748 RCV001196668 RCV001269143 RCV002295277 RCV002470740 RCV002514263

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

SNV
Germline

Chr1:46189870

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA263954

rs_386834019

8 SubmittersRCV000050000 RCV000820354 RCV001542522 RCV002514265 RCV002496725 RCV004566907

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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA263963

rs_386834024

7 SubmittersRCV000050005 RCV000240866 RCV001043665 RCV001810415 RCV002513697

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
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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA263981

rs_386834034

9 SubmittersRCV000050017 RCV000408610 RCV000578838 RCV000984295 RCV000984294 RCV001062800 RCV002272048 RCV003460643

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
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 brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA223256

rs_386834039

8 SubmittersRCV000050023 RCV000081807 RCV001039421 RCV000984300 RCV000984204 RCV000984205 RCV003466920

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

SNV
Germline

Chr12:88114488

Pathogenic

Meckel syndrome, type 4
Joubert syndrome 5
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Retinitis pigmentosa
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Condition: not provided
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA144389

rs_386834152

10 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002504949 RCV002285263 RCV003460645

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_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

Criteria Provided
Multiple Submitters
No Conflicts

CA280042

rs_137854907

2 SubmittersRCV000058868 RCV003764740

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
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200860068

3 SubmittersRCV001000883 RCV001158609 RCV001230487

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

5 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

Criteria Provided
Conflicting Classifications

CA220605

rs_398123299

5 SubmittersRCV000078554 RCV000778735 RCV001074335 RCV001151258

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
Retinitis pigmentosa
Pigmentary retinal dystrophy
Newfoundland cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA220669

rs_144254383

4 SubmittersRCV000078643 RCV000350084 RCV000292834 RCV000398047

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
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220683

rs_61750120

17 SubmittersRCV000078665 RCV000150052 RCV001002834 RCV001074904 RCV001195927 RCV002490678 RCV004537308

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

SNV
Germline

Chr1:94011395

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA220687

rs_1800728

28 SubmittersRCV000008366 RCV000177965 RCV000210325 RCV000078669 RCV000787510 RCV001000430 RCV000210327 RCV001542559 RCV000504857 RCV000678511 RCV000763440 RCV000787771

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

SNV
Germline

Chr5:149896500

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA146172

rs_17711594

5 SubmittersRCV000078824 RCV000958573 RCV000407553

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

SNV
Germline

Chr5:149884543

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 43
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA146174

rs_78775072

5 SubmittersRCV000078825 RCV001001657 RCV001521115 RCV001156330

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
Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA147159

rs_182322608

7 SubmittersRCV000079542 RCV000513065 RCV000664906 RCV001162621

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

SNV
Germline

Chr6:63864319

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA221547

rs_398123575

13 SubmittersRCV000177866 RCV000210330 RCV000504744 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
PRPF3-related disorder
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA222786

rs_143350315

4 SubmittersRCV000081164 RCV003952514 RCV001100611

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

SNV
Germline

Chr4:15991228

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA148434

rs_149028760

6 SubmittersRCV000081346 RCV000296436 RCV000351307 RCV000326660 RCV000381327 RCV000892544

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

5 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

Criteria Provided
Conflicting Classifications

CA223111

rs_144822294

3 SubmittersRCV000081612 RCV001125500 RCV001125501

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

SNV
Germline

Chr17:6433928

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223113

rs_62653020

8 SubmittersRCV000081613 RCV000259077 RCV000306547 RCV000345097 RCV001080955

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

Criteria Provided
Conflicting Classifications

CA223115

rs_62637017

9 SubmittersRCV000081614 RCV000311702 RCV000371077 RCV001001388 RCV001086330 RCV004542792

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
Condition: not provided
Leber congenital amaurosis 3

Criteria Provided
Conflicting Classifications

CA223536

rs_151338404

6 SubmittersRCV000081956 RCV000327877 RCV001699118 RCV000952079

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

Criteria Provided
Conflicting Classifications

CA223636

rs_146822426

4 SubmittersRCV000082098 RCV000417364 RCV001095829 RCV001095830

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
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

CA224186

rs_398124544

9 SubmittersRCV000082652 RCV000668206 RCV001074721 RCV001065437 RCV001192639 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

6 SubmittersRCV000082654 RCV000671662 RCV001221115

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

SNV
Germline

Chr1:215970720

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

CA224398

rs_398124619

9 SubmittersRCV000675016 RCV000760348 RCV001002688 RCV001376458 RCV001075205

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

SNV
Germline

Chr1:215888734

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Usher syndrome

Criteria Provided
Conflicting Classifications

CA224400

rs_398124620

4 SubmittersRCV000082831 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

Criteria Provided
Multiple Submitters
No Conflicts

CA149722

rs_149614625

5 SubmittersRCV000083268 RCV001228000 RCV001723662 RCV002483157

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
Familial aplasia of the vermis
Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20

Criteria Provided
Multiple Submitters
No Conflicts

CA149724

rs_587777079

4 SubmittersRCV000083270 RCV000201713 RCV003225027 RCV002483158

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

SNV
Germline

Chr2:27480049

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 without polydactyly
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
Inborn genetic diseases
Condition: not provided
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA149729

rs_145541911

6 SubmittersRCV000083274 RCV001303423 RCV002490732 RCV003278664 RCV003153361 RCV004549522

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA149747

rs_431905521

5 SubmittersRCV000083297 RCV000515922 RCV000626469 RCV004579537

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

SNV
Germline

Chr16:1571494

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia without polydactyly
Saldino-Mainzer syndrome
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 80
Retinitis pigmentosa
IFT140-related disorder

Criteria Provided
Conflicting Classifications

CA149748

rs_199826737

12 SubmittersRCV000083298 RCV000626462 RCV001075445 RCV001268554 RCV001542691 RCV002509205 RCV003398688

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

SNV
Germline

Chr6:42722086

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA226218

rs_61755775

8 SubmittersRCV000084960 RCV001086017 RCV001158408 RCV001158409 RCV001165124 RCV001158410 RCV001165123 RCV001165122 RCV001699036 RCV003888453

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

SNV
Germline

Chr6:42721913

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA185988

rs_61755781

10 SubmittersRCV000084969 RCV000161145 RCV001051727 RCV001074856 RCV001250306 RCV001250316 RCV001250317 RCV001353037 RCV001723663 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

Criteria Provided
Multiple Submitters
No Conflicts

CA226236

rs_61755785

6 SubmittersRCV000084973 RCV001315051 RCV003238719

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
Pigmentary retinal dystrophy
Retinitis pigmentosa
Stargardt disease
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226238

rs_61755787

6 SubmittersRCV000084975 RCV000626661 RCV001074377 RCV001270171 RCV001250327 RCV001250326 RCV001378482

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

SNV
Germline

Chr6:42721800

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226252

rs_61755796

4 SubmittersRCV000084985 RCV001250370 RCV002514515

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

7 SubmittersRCV000085000 RCV000504657 RCV001854491 RCV003888459

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

SNV
Germline

Chr6:42704547

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226283

rs_61755805

8 SubmittersRCV000085006 RCV000787871 RCV001058357

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

SNV
Germline

Chr6:42704534

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226293

rs_61755810

6 SubmittersRCV000085011 RCV001003141 RCV001075618 RCV001346727

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
Cone-rod dystrophy
PRPH2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA226298

rs_61755813

7 SubmittersRCV000085014 RCV001159969 RCV001164883 RCV001164884 RCV001164885 RCV001164887 RCV001164886 RCV001439459 RCV001530323

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226312

rs_62645935

6 SubmittersRCV000085022 RCV001705814 RCV002514517

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

SNV
Germline

Chr6:42704362

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226319

rs_281865373

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

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

SNV
Germline

Chr6:42698470

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
PRPH2-related disorder
Stargardt disease

Criteria Provided
Conflicting Classifications

CA226322

rs_62645939

9 SubmittersRCV000085028 RCV001161271 RCV001438086 RCV001250360

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

SNV
Germline

Chr6:42698398

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA226331

rs_61748434

8 SubmittersRCV000085034 RCV000298015 RCV000301680 RCV000261808 RCV000356624 RCV000406549 RCV000787872 RCV001066591 RCV001250365 RCV001250366

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

SNV
Germline

ChrX:38298953

Pathogenic/Likely pathogenic

Retinitis pigmentosa 3
Condition: not provided
Retinal dystrophy
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA226348

rs_62635002

4 SubmittersRCV000010579 RCV000085047 RCV001073791 RCV002514520

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.865A>G (p.Ile289Val)

SNV
Germline

ChrX:38304704

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
not specified
Primary ciliary dyskinesia
RPGR-related disorder

Criteria Provided
Conflicting Classifications

CA226452

rs_62640587

5 SubmittersRCV000085129 RCV000990776 RCV001844036 RCV001078829 RCV003891584

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

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA226480

rs_62646883

2 SubmittersRCV000085147 RCV001854496

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

SNV
Germline

Chr1:68449890

Pathogenic

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

Reviewed By Expert Panel

CA226483

rs_61751276

20 SubmittersRCV000022752 RCV000085149 RCV000524808 RCV000505050 RCV000678614 RCV001275342 RCV002498448 RCV003460766

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

SNV
Germline

Chr1:68446837

Pathogenic

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

Reviewed By Expert Panel

CA226491

rs_61751281

10 SubmittersRCV000085155 RCV000132582 RCV001047503 RCV001275340 RCV001250675 RCV002498450 RCV004527312 RCV001074416

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

SNV
Germline

Chr1:68431491

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

CA226497

rs_62636298

5 SubmittersRCV000085159 RCV001089894 RCV001041992 RCV002509207

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

SNV
Germline

Chr1:68431371

Likely pathogenic

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

Reviewed By Expert Panel

CA226499

rs_62636299

5 SubmittersRCV000085160 RCV001074061 RCV003466997 RCV003764786 RCV001323215

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

SNV
Germline

Chr1:68446824

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226506

rs_61751282

8 SubmittersRCV000085166 RCV000701390 RCV001257816 RCV001250676 RCV001275338 RCV001808321 RCV004528783

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

SNV
Germline

Chr1:68431131

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226513

rs_62637006

6 SubmittersRCV000085172 RCV001376503 RCV001250694 RCV002513922

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

SNV
Germline

Chr1:68431097

Likely pathogenic

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

Reviewed By Expert Panel

CA226515

rs_62637007

6 SubmittersRCV000085173 RCV001250706 RCV001257424 RCV003764787

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 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Leber congenital amaurosis

Reviewed By Expert Panel

CA226517

rs_62653015

10 SubmittersRCV000085175 RCV001250703 RCV001854497 RCV003764788 RCV001826773

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

SNV
Germline

Chr1:68446720

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA226528

rs_61752869

2 SubmittersRCV000085182 RCV003764790

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
Retinitis pigmentosa
Leber congenital amaurosis 2
Inborn genetic diseases
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226533

rs_61752873

9 SubmittersRCV000085186 RCV001061074 RCV001275336 RCV001731373 RCV002247485 RCV003242980 RCV003764791

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226537

rs_281865285

3 SubmittersRCV000085190 RCV001376504 RCV001377675

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

SNV
Germline

Chr1:68444825

Pathogenic

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

Reviewed By Expert Panel

CA226540

rs_62642584

10 SubmittersRCV000085192 RCV000763389 RCV001249229 RCV001275333 RCV003467000 RCV003764793

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

SNV
Germline

Chr1:68444656

Pathogenic

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

Reviewed By Expert Panel

CA226545

rs_61752877

12 SubmittersRCV000085195 RCV000538669 RCV000986332 RCV001275332 RCV002490740 RCV003242981 RCV003888467 RCV003764794

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

SNV
Germline

Chr1:68444596

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226550

rs_61752880

3 SubmittersRCV000085198 RCV001854498 RCV004566978

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

SNV
Germline

Chr1:68440997

Likely pathogenic

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

Reviewed By Expert Panel

CA226557

rs_61752883

10 SubmittersRCV000085203 RCV000678617 RCV000778252 RCV001250708 RCV001831894 RCV001245153 RCV004527316

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

SNV
Germline

Chr1:68440952

Pathogenic

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

Reviewed By Expert Panel

CA226559

rs_61752884

5 SubmittersRCV000085205 RCV001388257 RCV001257821 RCV004527317 RCV004566979

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

SNV
Germline

Chr1:68448653

Likely pathogenic

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

Reviewed By Expert Panel

CA226576

rs_61751277

10 SubmittersRCV000085218 RCV001250672 RCV001218527 RCV002222384 RCV003764796

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

SNV
Germline

Chr1:68439571

Pathogenic

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

Reviewed By Expert Panel

CA226579

rs_61752896

7 SubmittersRCV000085220 RCV000678618 RCV001207227 RCV001831895 RCV003764797

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

SNV
Germline

Chr1:68439190

Pathogenic

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

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
Leber congenital amaurosis 2
Retinitis pigmentosa 20

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

Reviewed By Expert Panel

CA226591

rs_61751279

13 SubmittersRCV000085232 RCV001074560 RCV001250674 RCV002498451 RCV003460771 RCV000668398 RCV001003189

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

Pathogenic

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

Criteria Provided
Single Submitter

CA226599

rs_61752908

3 SubmittersRCV000085237 RCV000808234 RCV001250691

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

SNV
Germline

Chr1:94079421

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA226872

rs_61748549

11 SubmittersRCV000085376 RCV000764205 RCV000986372 RCV001073759 RCV001096640 RCV001257823

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
Retinitis pigmentosa 19
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA179692

rs_61748550

10 SubmittersRCV000085378 RCV000152707 RCV001074409 RCV003398695 RCV002513925 RCV004558301

NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)

SNV
Germline

Chr1:94063224

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226915

rs_61748558

11 SubmittersRCV000085413 RCV000763048 RCV000761253 RCV000778263 RCV000782281 RCV001074836 RCV004558302

NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)

SNV
Germline

Chr1:94111561

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Retinitis pigmentosa
ABCA4-related disorder
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Stargardt disease
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA226932

rs_61749409

20 SubmittersRCV000085428 RCV000408597 RCV000504951 RCV000850520 RCV001353025 RCV001723664 RCV001849310 RCV002250560 RCV002498452 RCV003324506 RCV004558305

NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)

SNV
Germline

Chr1:94062587

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Macular degeneration
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA201008

rs_61749417

8 SubmittersRCV000085445 RCV000174470 RCV000260757 RCV000318324 RCV000353201 RCV000356519 RCV000986369 RCV001075850 RCV001098279

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
See cases
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA226961

rs_61752401

11 SubmittersRCV000085448 RCV000408499 RCV001542645 RCV004584346 RCV004558306

NM_000350.3(ABCA4):c.1938-1G>A

SNV
Germline

Chr1:94060760

Pathogenic

Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Condition: not provided
Macular dystrophy

No Assertion Criteria Provided

CA226963

rs_61751263

3 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
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19

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
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226965

rs_61749420

10 SubmittersRCV000085452 RCV000408546 RCV000763047 RCV001074668

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
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Macular degeneration
Cone-Rod Dystrophy, Recessive
ABCA4-related disorder
Age related macular degeneration 2

Criteria Provided
Conflicting Classifications

CA227022

rs_61749440

10 SubmittersRCV000085500 RCV000260644 RCV000280747 RCV000315748 RCV000375069 RCV001096530 RCV001197697

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
Stargardt Disease, Recessive
Macular degeneration
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA227045

rs_61754033

4 SubmittersRCV000085518 RCV000271906 RCV000287276 RCV000322409 RCV000377007 RCV001099949

NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)

SNV
Germline

Chr1:94046922

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227051

rs_61749451

6 SubmittersRCV000085523 RCV000504717 RCV000505078 RCV002498454

NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)

SNV
Germline

Chr1:94042830

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227097

rs_61751398

10 SubmittersRCV000085562 RCV001075833 RCV001199228 RCV001814057 RCV001808323 RCV002466427 RCV002498455

NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)

SNV
Germline

Chr1:94121014

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227106

rs_62645946

9 SubmittersRCV000085568 RCV000779010 RCV001074134 RCV001723665 RCV002247489 RCV002051808 RCV003324509 RCV003324510

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
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Retinal dystrophy
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227116

rs_1801269

10 SubmittersRCV000085576 RCV000408578 RCV000763045 RCV001075726 RCV001199211

NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)

SNV
Germline

Chr1:94031015

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227169

rs_61750137

12 SubmittersRCV000085616 RCV000408549 RCV001074847 RCV002490742 RCV003155072

NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp)

SNV
Germline

Chr1:94030464

Pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa

Criteria Provided
Single Submitter

CA227182

rs_61750140

3 SubmittersRCV000085628 RCV001257845

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
Retinal dystrophy
Stargardt disease
Age related macular degeneration 2
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA227192

rs_61750145

13 SubmittersRCV000085636 RCV000408536 RCV001074852 RCV001002829 RCV001198562 RCV002498456

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
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Retinal dystrophy
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA227193

rs_61750146

11 SubmittersRCV000085637 RCV000408472 RCV000763043 RCV001073630 RCV001808325

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227198

rs_61751402

19 SubmittersRCV000085641 RCV000177442 RCV000210300 RCV000787763 RCV000779003 RCV001542643 RCV004584347

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227218

rs_61750152

13 SubmittersRCV000085656 RCV000177509 RCV000210286 RCV000623715 RCV001002827 RCV001075849 RCV001542561

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
Cone-rod dystrophy 3
Age-related macular degeneration
Retinitis pigmentosa 19
Retinitis pigmentosa
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227219

rs_62642574

11 SubmittersRCV000085657 RCV000177510 RCV001002826 RCV001074286 RCV001535669 RCV003235039 RCV004529890

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
Inborn genetic diseases
Abnormal retinal morphology
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA227225

rs_62646863

16 SubmittersRCV000085663 RCV000504910 RCV000622993 RCV000626667 RCV000764207 RCV001100155

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

16 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
Retinal dystrophy
Stargardt disease
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 19
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227239

rs_61750155

15 SubmittersRCV000085674 RCV000408465 RCV001074177 RCV001002825 RCV001257846 RCV001808326 RCV003387758

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
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA227253

rs_61751404

17 SubmittersRCV000085683 RCV000210311 RCV000505114 RCV000408519 RCV000787504 RCV002505017

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

Criteria Provided
Conflicting Classifications

CA227255

rs_61753017

9 SubmittersRCV000085685 RCV000787506 RCV000986355 RCV001075879

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
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA227272

rs_61750564

5 SubmittersRCV000085697 RCV000408469 RCV002490743

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.5460+1G>A

SNV
Germline

Chr1:94014542

Pathogenic

Condition: not provided
Retinitis pigmentosa
Stargardt disease
Autosomal recessive retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227308

rs_61753030

5 SubmittersRCV000085729 RCV000791319 RCV001002813 RCV001257848

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
Stargardt disease
ABCA4-related disorder
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA202869

rs_1801466

14 SubmittersRCV000085744 RCV000178424 RCV000293913 RCV000309306 RCV000391356 RCV000348932 RCV000721173 RCV001002812 RCV001097975 RCV001197336 RCV001262623 RCV001723669

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
ABCA4-related disorder
Retinitis pigmentosa
Retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA227333

rs_1800552

17 SubmittersRCV000085752 RCV000408593 RCV000623966 RCV000787513 RCV000778998 RCV000787764 RCV001075015 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
Stargardt disease
Cone-rod dystrophy
ABCA4-related disorder
Retinal dystrophy
Age related macular degeneration 2
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA227338

rs_61751407

29 SubmittersRCV000085757 RCV000210303 RCV000210321 RCV000332324 RCV000515694 RCV000845081 RCV000778997 RCV001074898 RCV001196124 RCV002498458

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
ABCA4-related disorder
Cone-Rod Dystrophy, Recessive
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 RCV001096228 RCV000379050 RCV001195781 RCV003888479 RCV004562249

NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)

SNV
Germline

Chr1:94007710

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227357

rs_61750639

7 SubmittersRCV000085778 RCV001002809 RCV001075771

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
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
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
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Stargardt disease
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227369

rs_61753038

8 SubmittersRCV000085790 RCV000763435 RCV000787772 RCV001073783 RCV002283455

NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)

SNV
Germline

Chr1:94001961

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227373

rs_61753039

3 SubmittersRCV000085792 RCV002490744

NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)

SNV
Germline

Chr1:94001885

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227382

rs_61748519

5 SubmittersRCV000085800 RCV000277538 RCV000292818 RCV000332637 RCV000387042 RCV001101661 RCV003888481

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
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227396

rs_61748520

8 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
not specified
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Macular degeneration
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA203214

rs_6657239

10 SubmittersRCV000085814 RCV000179292 RCV000315191 RCV000269487 RCV000369853 RCV000369400 RCV001098368 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

Criteria Provided
Multiple Submitters
No Conflicts

CA227400

rs_61753043

8 SubmittersRCV000085816 RCV000408502 RCV003225930

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
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA227420

rs_61748538

6 SubmittersRCV000085832 RCV000504919 RCV002470767 RCV002498460

NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)

SNV
Germline

Chr1:93997932

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Cone dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227425

rs_61753046

12 SubmittersRCV000085837 RCV000408450 RCV000504742 RCV001352970 RCV004529895

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
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
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_000554.6(CRX):c.253-15G>A

SNV
Germline

Chr19:47839305

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227619

rs_145805694

7 SubmittersRCV000085996 RCV000282603 RCV000335244 RCV000374438 RCV001512740

NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)

SNV
Germline

Chr19:47839492

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 1
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Cone-rod dystrophy 2
Autosomal dominant retinitis pigmentosa
Leber congenital amaurosis 7

Criteria Provided
Conflicting Classifications

CA227624

rs_61748442

9 SubmittersRCV000086001 RCV000787829 RCV000990235 RCV001089193 RCV001131568 RCV001257854 RCV001131569

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

3 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
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2
CRX-related disorder

Criteria Provided
Conflicting Classifications

CA227639

rs_61748455

4 SubmittersRCV000086014 RCV000277021 RCV000311321 RCV000368298 RCV001080501 RCV003905083

NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)

SNV
Germline

Chr6:35500010

Pathogenic

Condition: not provided
Retinitis pigmentosa 14

Criteria Provided
Single Submitter

CA227705

rs_62636511

3 SubmittersRCV000086069 RCV001542663

NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)

SNV
Germline

Chr6:35499990

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa
Leber congenital amaurosis 15

Criteria Provided
Conflicting Classifications

CA227706

rs_141980901

8 SubmittersRCV000086070 RCV000591717 RCV001156199 RCV001156200

NM_003322.6(TULP1):c.1495+1G>A

SNV
Germline

Chr6:35499980

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227708

rs_281865168

8 SubmittersRCV000086071 RCV000454250 RCV001075035 RCV001257785 RCV000454167

NM_003322.6(TULP1):c.1496-6C>A

SNV
Germline

Chr6:35498466

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227709

rs_281865171

10 SubmittersRCV000086072 RCV000787923 RCV001073440 RCV001376339 RCV002228330 RCV002483168

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.637-6C>T

SNV
Germline

Chr11:61957381

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant vitreoretinochoroidopathy
Vitelliform macular dystrophy 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA227791

rs_62639356

7 SubmittersRCV000086147 RCV000320452 RCV000265298 RCV000378739

NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)

SNV
Germline

Chr11:61957402

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227795

rs_281865238

7 SubmittersRCV000086150 RCV000787543 RCV000763263 RCV001073491

NM_014336.5(AIPL1):c.234C>T (p.Ser78=)

SNV
Germline

Chr17:6433961

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leber congenital amaurosis 4
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA227868

rs_62635774

4 SubmittersRCV000086214 RCV000363858 RCV001078533 RCV001125502

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, Recessive
Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4
not specified

Criteria Provided
Conflicting Classifications

CA227901

rs_140124986

5 SubmittersRCV000086237 RCV000303893 RCV000360989 RCV001080115 RCV001699204

NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)

SNV
Germline

Chr12:88083077

Pathogenic/Likely pathogenic

Condition: not provided
CEP290-related disorder
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Leber congenital amaurosis
Senior-Loken syndrome 6
Retinitis pigmentosa
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227975

rs_62638179

8 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014

NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)

SNV
Germline

Chr1:197356990

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227987

rs_62645754

7 SubmittersRCV000086304 RCV001002989 RCV001250593 RCV001857423 RCV002498468 RCV003453010 RCV003453011

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 RCV003764799 RCV003474690

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
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

8 SubmittersRCV000086308 RCV001376374 RCV001826777 RCV003453013 RCV000797320 RCV003235040 RCV003453012

NM_201253.3(CRB1):c.1647T>C (p.Asn549=)

SNV
Germline

Chr1:197421475

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227996

rs_62636283

5 SubmittersRCV000086310 RCV000283110 RCV000378808 RCV000324209 RCV001084432

NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)

SNV
Germline

Chr1:197421870

Pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA228000

rs_62636266

7 SubmittersRCV000086312 RCV001046839 RCV001831900 RCV003453016 RCV003453015

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

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA228013

rs_62636271

5 SubmittersRCV000086323 RCV000529725 RCV001002996 RCV001250658

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
CRB1-related disorder

Criteria Provided
Conflicting Classifications

CA228017

rs_62636290

7 SubmittersRCV000086327 RCV000763788 RCV001239396 RCV001563888 RCV001526761 RCV001826778 RCV004529904

NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)

SNV
Germline

Chr1:197429460

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA203679

rs_62636273

14 SubmittersRCV000086328 RCV000505142 RCV000542027 RCV001074017 RCV001250608 RCV001275654 RCV001376474 RCV001723672 RCV003453019

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
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA228036

rs_62636276

6 SubmittersRCV000086342 RCV001075774 RCV001250617 RCV001378740 RCV003453029 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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA228044

rs_281865174

4 SubmittersRCV000086348 RCV001250619 RCV001857425

NM_201253.3(CRB1):c.430T>G (p.Phe144Val)

SNV
Germline

Chr1:197328781

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA228050

rs_62636262

4 SubmittersRCV000086355 RCV001242505 RCV001588920 RCV001826780

NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)

SNV
Germline

Chr1:197328965

Conflicting classifications of pathogenicity

Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Intellectual disability
Leber congenital amaurosis
Leber congenital amaurosis 1

Criteria Provided
Conflicting Classifications

CA228054

rs_62645749

10 SubmittersRCV000086360 RCV000288080 RCV000787825 RCV001080600 RCV000382919 RCV001251962 RCV001271893 RCV000986485

NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val)

SNV
Germline

Chr5:149896430

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 43
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA228873

rs_61733362

5 SubmittersRCV000086933 RCV001002090 RCV001157994

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

4 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
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA228954

rs_59691602

4 SubmittersRCV000087005 RCV000309890 RCV000346080 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

Criteria Provided
Multiple Submitters
No Conflicts

CA228956

rs_137853923

8 SubmittersRCV000087007 RCV001376202 RCV002469009 RCV003445508 RCV001074825

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_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.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
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
KIZ-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA151548

rs_202210819

11 SubmittersRCV000116208 RCV001003070 RCV000760516 RCV001073648 RCV003390800

NM_018474.6(KIZ):c.52G>T (p.Glu18Ter)

SNV
Germline

Chr20:21126167

Pathogenic

Retinitis pigmentosa 69
Condition: not provided

Criteria Provided
Single Submitter

CA151550

rs_587777376

2 SubmittersRCV000116209 RCV001854564

NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)

SNV
Germline

Chr1:216200031

Pathogenic

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

Reviewed By Expert Panel

CA269917

rs_483353055

7 SubmittersRCV000119824 RCV000675179 RCV001089677 RCV000787729 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
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Macular degeneration
Retinal dystrophy
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA289216

rs_570745701

5 SubmittersRCV000123437 RCV000277374 RCV000291533 RCV000332468 RCV000382403 RCV001075760 RCV001098162 RCV001494980

NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)

SNV
Germline

Chr1:94037199

Conflicting classifications of pathogenicity

not specified
Macular degeneration
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA289219

rs_147884766

6 SubmittersRCV000123439 RCV000266131 RCV000310721 RCV000365294 RCV000406941 RCV000726042 RCV001101850

NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)

SNV
Germline

Chr6:64307042

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202471

rs_201580493

9 SubmittersRCV000177451 RCV001003019 RCV001292621 RCV000882506

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

Criteria Provided
Conflicting Classifications

CA292713

rs_201100689

4 SubmittersRCV000127389 RCV000313689 RCV000395859 RCV000971875

NM_001244926.2(PRPF4):c.941C>T (p.Pro314Leu)

SNV
Germline

Chr9:113288183

Likely pathogenic

Retinitis pigmentosa 70
Condition: not provided

Criteria Provided
Single Submitter

CA170079

rs_587777599

2 SubmittersRCV000132564 RCV001268585

NM_000260.4(MYO7A):c.1667G>T (p.Gly556Val)

SNV
Not provided

Chr11:77162965

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA270005

rs_527236085

1 SubmittersRCV000132570

NM_000283.4(PDE6B):c.1467+1G>C

SNV
Not provided

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

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA270008

rs_527236091

4 SubmittersRCV000132574 RCV001857472 RCV003888537

NM_000283.4(PDE6B):c.1604T>A (p.Ile535Asn)

SNV
Germline

Chr4:660603

Pathogenic/Likely 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

Criteria Provided
Multiple Submitters
No Conflicts

CA270013

rs_527236097

4 SubmittersRCV000132578 RCV001074625 RCV001388979 RCV001530286

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

10 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

Criteria Provided
Multiple Submitters
No Conflicts

CA232815

rs_148460146

9 SubmittersRCV000132592 RCV000986347 RCV001073482 RCV001542554

NM_000539.3(RHO):c.180C>A (p.Tyr60Ter)

SNV
Germline

Chr3:129528913

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA270021

rs_527236101

3 SubmittersRCV000132596 RCV001007975 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

3 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

Condition: not provided
not specified
Retinitis pigmentosa
Oguchi disease
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA232819

rs_115857633

5 SubmittersRCV000132603 RCV000365394 RCV001137320 RCV001137319 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_001034853.2(RPGR):c.1981G>T (p.Glu661Ter)

SNV
Not provided

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
Not provided

ChrX:38304647

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA270037

rs_527236112

1 SubmittersRCV000132614

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

4 SubmittersRCV000132616 RCV000678599 RCV001060810 RCV003888552

NM_001379270.1(CNGA1):c.977A>G (p.Asp326Gly)

SNV
Not provided

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
Not provided

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

3 SubmittersRCV000132622 RCV001849952 RCV003462050

NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys)

SNV
Germline

Chr6:64626200

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA232827

rs_150951106

6 SubmittersRCV000132623 RCV000666256 RCV001159868 RCV003888553 RCV003905240

NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter)

SNV
Not provided

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

6 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

7 SubmittersRCV000132633 RCV000678571 RCV001059640 RCV001074415

NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)

SNV
Germline

Chr6:63762520

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA270067

rs_527236076

6 SubmittersRCV000132634 RCV001212734 RCV001826795 RCV003888557 RCV003905241

NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)

SNV
Germline

Chr6:63721226

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA270070

rs_527236067

10 SubmittersRCV000132636 RCV000803751 RCV001074003 RCV001808400

NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr)

SNV
Germline

Chr6:63720822

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA270072

rs_183589498

5 SubmittersRCV000132637 RCV000938878 RCV003330509 RCV003888558

NM_001242957.3(MAK):c.553G>A (p.Ala185Thr)

SNV
Germline

Chr6:10803830

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA270078

rs_527236080

3 SubmittersRCV000132645 RCV001315049 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
Retinitis pigmentosa 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA270083

rs_527236117

4 SubmittersRCV000132650 RCV001376329 RCV001378479

NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)

SNV
Germline

Chr11:61958194

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA270085

rs_372989281

4 SubmittersRCV000132651 RCV001781480 RCV002478405 RCV003888561

NM_004744.5(LRAT):c.163C>T (p.Arg55Trp)

SNV
Germline

Chr4:154744489

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA270087

rs_527236079

2 SubmittersRCV000132653 RCV003556177

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

Criteria Provided
Multiple Submitters
No Conflicts

CA270091

rs_201493928

8 SubmittersRCV000132658 RCV001064832 RCV001075254 RCV001376316

NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter)

SNV
Germline

Chr8:54629679

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 1

Criteria Provided
Conflicting Classifications

CA270095

rs_118031911

7 SubmittersRCV000132661 RCV000825444 RCV001035254 RCV003888563 RCV002250573

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
Not provided

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
Not provided

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

5 SubmittersRCV000132669 RCV001073690 RCV001206818 RCV001376490

NM_014014.5(SNRNP200):c.2047G>T (p.Val683Leu)

SNV
Not provided

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA270110

rs_527236086

7 SubmittersRCV000132672 RCV001075734 RCV000670387 RCV001205439 RCV001831925 RCV004532584

NM_015629.4(PRPF31):c.562G>T (p.Glu188Ter)

SNV
Not provided

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
Not provided

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
Condition: not provided
Autosomal recessive retinitis pigmentosa
Vitelliform macular dystrophy 5
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA270121

rs_199867882

12 SubmittersRCV000132676 RCV000585301 RCV001257827 RCV001270127 RCV001074065

NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)

SNV
Germline

Chr8:86632864

Conflicting classifications of pathogenicity

Condition: not provided
Achromatopsia 3
not specified
Abnormality of the eye
Achromatopsia
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA232853

rs_147876778

14 SubmittersRCV000132679 RCV000174144 RCV000435881 RCV000501136 RCV000597492 RCV000678546 RCV001164460

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA170083

rs_114342808

11 SubmittersRCV000132698 RCV000179572 RCV001073589 RCV001002990 RCV000792250 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
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA270135

rs_527236139

19 SubmittersRCV000132701 RCV000504711 RCV000413588 RCV000665160 RCV000678643 RCV001074730 RCV003226212

NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)

SNV
Germline

Chr1:215674901

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA270139

rs_527236137

12 SubmittersRCV000132703 RCV000983996 RCV000824779 RCV001043740 RCV001073283 RCV003324517

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

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Conflicting Classifications

CA270143

rs_527236124

7 SubmittersRCV000132705 RCV001075191 RCV002514759 RCV003453100 RCV004525879

NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)

SNV
Germline

Chr1:215650692

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA270145

rs_527236126

6 SubmittersRCV000144482 RCV000132706 RCV000675147 RCV002514760 RCV003462051 RCV003888572

NM_206933.4(USH2A):c.14450G>A (p.Gly4817Glu)

SNV
Not provided

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

Criteria Provided
Conflicting Classifications

CA270149

rs_527236122

8 SubmittersRCV000132708 RCV000490337 RCV001221094 RCV003888573 RCV003462052

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
Usher syndrome type 2
Retinal dystrophy
Usher syndrome

Criteria Provided
Conflicting Classifications

CA270152

rs_201527662

22 SubmittersRCV000132710 RCV000576637 RCV000595137 RCV000986542 RCV001003277 RCV001074347 RCV002469023

NM_206933.4(USH2A):c.490G>T (p.Val164Phe)

SNV
Germline

Chr1:216418675

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA270157

rs_527236123

6 SubmittersRCV000132713 RCV001075672 RCV001227152 RCV003453101

NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter)

SNV
Germline

Chr1:216000489

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA270159

rs_55958016

4 SubmittersRCV000132714 RCV003462053 RCV003888574 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
Leber congenital amaurosis
Retinitis pigmentosa
Condition: not provided
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA270780

rs_587783013

10 SubmittersRCV000144464 RCV001262092 RCV000678521 RCV001698972 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
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Retinitis pigmentosa and erythrocytic microcytosis
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
Condition: not provided
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA295419

rs_142485035

9 SubmittersRCV000150000 RCV000725700 RCV000763935 RCV001083649 RCV001333960 RCV002514874

NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)

SNV
Germline

Chr1:46196766

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
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
Retinitis pigmentosa 76
Muscle eye brain disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA295425

rs_375420073

4 SubmittersRCV000648197 RCV000763937 RCV001272275 RCV003129788

NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser)

SNV
Germline

Chr1:215670997

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA179505

rs_369513607

2 SubmittersRCV000152564 RCV000668395

NM_206933.4(USH2A):c.5858-12A>G

SNV
Germline

Chr1:216070304

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA179556

rs_727503727

3 SubmittersRCV000152609 RCV000669695 RCV002056017

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
USH2A-related disorder

Reviewed By Expert Panel

CA185105

rs_727505116

10 SubmittersRCV000156571 RCV000505112 RCV000725477 RCV001004787 RCV003991016 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
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273457

rs_146733615

10 SubmittersRCV000411616 RCV000410556 RCV000824777 RCV001073844 RCV001054211 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
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA273630

rs_727504867

5 SubmittersRCV000156228 RCV001826849 RCV002515013 RCV003453191

NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)

SNV
Germline

Chr1:215728281

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

CA182588

rs_146264950

9 SubmittersRCV000155322 RCV000664687 RCV001274938 RCV001244553 RCV001579277

NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)

SNV
Germline

Chr1:215779878

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

CA185250

rs_727505166

5 SubmittersRCV000156642 RCV000763828 RCV001271141 RCV002516341 RCV003888605

NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)

SNV
Germline

Chr1:215799023

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA183787

rs_727504654

8 SubmittersRCV000155917 RCV000666703 RCV001074861 RCV001376534 RCV001273698 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
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179529

rs_559922535

3 SubmittersRCV000152588 RCV000671038 RCV001307268

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
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA179578

rs_727503735

4 SubmittersRCV000152627 RCV000918519 RCV001097182 RCV001097183

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

5 SubmittersRCV000152631 RCV000881023 RCV001100749 RCV001100750

NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)

SNV
Germline

Chr1:216323576

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA183926

rs_201847741

3 SubmittersRCV000155979 RCV000666822 RCV000943628

NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)

SNV
Germline

Chr1:216327618

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA183997

rs_727504721

6 SubmittersRCV000156012 RCV000673498 RCV001831971 RCV001731487 RCV003462061

NM_206933.4(USH2A):c.486-13G>A

SNV
Germline

Chr1:216418692

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA179592

rs_116367260

4 SubmittersRCV000152636 RCV001097552 RCV001097551 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

Criteria Provided
Conflicting Classifications

CA179511

rs_199605265

20 SubmittersRCV000152569 RCV000480057 RCV000505125 RCV000675140 RCV001004143 RCV001074420 RCV003226215 RCV004532711

NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)

SNV
Germline

Chr1:215680168

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA185267

rs_727505170

5 SubmittersRCV000156650 RCV000666738 RCV001238988

NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln)

SNV
Germline

Chr1:215728274

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA183417

rs_727504582

2 SubmittersRCV000155755 RCV000671917

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
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA179546

rs_140487302

11 SubmittersRCV000152602 RCV000504981 RCV000669599 RCV001240603 RCV001826815

NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)

SNV
Germline

Chr1:216190241

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA182604

rs_139311927

7 SubmittersRCV000155330 RCV000765070 RCV001376456 RCV001381659 RCV001276257 RCV003479024

NM_206933.4(USH2A):c.3801G>A (p.Ala1267=)

SNV
Germline

Chr1:216199637

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA179570

rs_537863698

5 SubmittersRCV000152619 RCV000389900 RCV000295631 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
Usher syndrome type 2A
Retinitis pigmentosa
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA179576

rs_34596189

10 SubmittersRCV000152625 RCV000504687 RCV000894588 RCV001100645 RCV001100644 RCV004544387

NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter)

SNV
Germline

Chr1:216246853

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA273290

rs_727503736

4 SubmittersRCV000152630 RCV001857523 RCV003453141 RCV003474803

NM_206933.4(USH2A):c.2001C>T (p.His667=)

SNV
Germline

Chr1:216251069

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA182606

rs_142870255

9 SubmittersRCV000155331 RCV000396635 RCV000310998 RCV000925735

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

5 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
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183450

rs_200940197

7 SubmittersRCV000155770 RCV000336096 RCV000388226 RCV000827304

NM_206933.4(USH2A):c.1143+12C>T

SNV
Germline

Chr1:216325293

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA185252

rs_727505167

4 SubmittersRCV000156643 RCV000666853 RCV002516342

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

Criteria Provided
Conflicting Classifications

CA176188

rs_199587998

11 SubmittersRCV000150755 RCV000725188 RCV001152888 RCV001589003 RCV004551304

NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)

SNV
Germline

Chr11:77199817

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa-deafness syndrome
Nonsyndromic Hearing Loss, Dominant
Condition: not provided
Usher syndrome type 1B
Hearing loss, autosomal recessive

Criteria Provided
Conflicting Classifications

CA182424

rs_372535399

5 SubmittersRCV000155236 RCV000323066 RCV000357884 RCV000733015 RCV001272800 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

11 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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Conflicting Classifications

CA233861

rs_375040930

6 SubmittersRCV000153110 RCV001235069 RCV001250605 RCV001831949 RCV002247550

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

Criteria Provided
Conflicting Classifications

CA180410

rs_141521563

6 SubmittersRCV000153881 RCV000299646 RCV000394806 RCV000425708

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

Criteria Provided
Conflicting Classifications

CA233962

rs_182151153

5 SubmittersRCV000153211 RCV000382484 RCV001073752 RCV001274970

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

4 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 58
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA235279

rs_61742428

4 SubmittersRCV000154164 RCV000765663 RCV001140115

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

Criteria Provided
Conflicting Classifications

CA234770

rs_149642039

4 SubmittersRCV000153815 RCV000206960 RCV001105648

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

Criteria Provided
Conflicting Classifications

CA233760

rs_201162411

18 SubmittersRCV000153040 RCV000504912 RCV001073599 RCV001257781 RCV001331891 RCV003907442

NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr)

SNV
Germline

Chr1:197435029

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA233863

rs_727503889

3 SubmittersRCV000153112 RCV001526715 RCV001850090

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

9 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
Retinal dystrophy
EYS-related disorder

Criteria Provided
Conflicting Classifications

CA180014

rs_147641443

11 SubmittersRCV000153212 RCV000584981 RCV000625442 RCV001164682 RCV003888588 RCV003965140

NM_018418.5(SPATA7):c.1033A>G (p.Met345Val)

SNV
Germline

Chr14:88431176

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 3
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA234982

rs_375371982

4 SubmittersRCV000153988 RCV001049973 RCV001120978 RCV003888597

NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)

SNV
Germline

Chr1:94021848

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Severe early-childhood-onset retinal dystrophy
Macular degeneration
Cone-Rod Dystrophy, Recessive
Condition: not provided
Cone dystrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA233403

rs_113106943

9 SubmittersRCV000285181 RCV000323858 RCV000408525 RCV000376503 RCV000381856 RCV000416254 RCV000504993 RCV001073617

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_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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
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

Criteria Provided
Conflicting Classifications

CA180277

rs_113246945

4 SubmittersRCV000153665 RCV001156613 RCV001151135 RCV001515674

NM_000283.4(PDE6B):c.2193+1G>A

SNV
Germline

Chr4:664945

Pathogenic

Retinitis pigmentosa 40
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 40
Congenital stationary night blindness autosomal dominant 2
PDE6B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273358

rs_727504075

14 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
Condition: not provided
Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12

Criteria Provided
Conflicting Classifications

CA180342

rs_113895168

7 SubmittersRCV000153771 RCV000757689 RCV001144801 RCV001150902 RCV001150903 RCV001150904

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
Retinitis pigmentosa
Retinitis pigmentosa 44
Condition: not provided
RGR-related disorder

Criteria Provided
Conflicting Classifications

CA180391

rs_143720091

8 SubmittersRCV000153837 RCV000375563 RCV001001658 RCV000963256 RCV003917508

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/Likely pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA274047

rs_148412181

11 SubmittersRCV000169209 RCV002259317 RCV001723740 RCV002345567

NM_019098.5(CNGB3):c.644-1G>C

SNV
Germline

Chr8:86667134

Pathogenic/Likely pathogenic

Achromatopsia 3
Condition: not provided
Achromatopsia
Severe early-childhood-onset retinal dystrophy
Achromatopsia 3
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA273948

rs_201794629

8 SubmittersRCV000169108 RCV000814009 RCV001002980 RCV001535671

NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)

SNV
Germline

Chr6:64230600

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA199162

rs_749909863

14 SubmittersRCV000169660 RCV000177524 RCV001075403 RCV001723741 RCV001376308 RCV003895170

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/Likely 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

4 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

Criteria Provided
Multiple Submitters
No Conflicts

CA235914

rs_767745816

7 SubmittersRCV000171226 RCV001003226 RCV001257831 RCV001852064

NM_014249.4(NR2E3):c.119-2A>C

SNV
Germline

Chr15:71811481

Pathogenic/Likely pathogenic

Retinitis pigmentosa 37
Condition: not provided
NR2E3-related disorder
Retinal dystrophy
not specified
Color vision defect
Horizontal nystagmus
Retinal dystrophy
Visual impairment
Cone-rod dystrophy
Retinitis pigmentosa
Enhanced S-cone syndrome
Retinitis pigmentosa 37
Goldmann-Favre syndrome
Ocular albinism
Inborn genetic diseases
Enhanced S-cone syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA235931

rs_2723341

32 SubmittersRCV000185571 RCV000171236 RCV000261643 RCV000505031 RCV000507553 RCV000626919 RCV000678584 RCV000787627 RCV000668212 RCV001275369 RCV002243841 RCV002515235 RCV000005864

NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter)

SNV
Germline

Chr15:71811978

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 37
Enhanced S-cone syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA235932

rs_786205493

4 SubmittersRCV000171237 RCV001376479 RCV003468851

NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser)

SNV
Germline

Chr15:71812410

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA235935

rs_368098126

5 SubmittersRCV000171238 RCV000787632 RCV001074909 RCV003468852

NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu)

SNV
Germline

Chr15:71813567

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 37
Enhanced S-cone syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA235938

rs_761628767

3 SubmittersRCV000171239 RCV001029779 RCV003989478

NM_000554.6(CRX):c.274G>A (p.Ala92Thr)

SNV
Germline

Chr19:47839341

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Conflicting Classifications

CA236030

rs_786205521

3 SubmittersRCV000171286 RCV001257853 RCV001342675

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/Likely pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 38

Criteria Provided
Multiple Submitters
No Conflicts

CA236067

rs_786205533

3 SubmittersRCV000171303 RCV001257798 RCV003987405

NM_006343.3(MERTK):c.1604+2T>G

SNV
Germline

Chr2:111997478

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 38

Criteria Provided
Multiple Submitters
No Conflicts

CA236069

rs_786205534

3 SubmittersRCV000171304 RCV001257900 RCV003987406

NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter)

SNV
Germline

Chr2:112021494

Likely pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 38

Criteria Provided
Multiple Submitters
No Conflicts

CA236070

rs_786205535

3 SubmittersRCV000171305 RCV001257796 RCV003987407

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
Multiple Submitters
No Conflicts

CA236112

rs_786205545

3 SubmittersRCV000171327 RCV001257877 RCV003987408

NM_001278293.3(ARL6):c.362G>A (p.Arg121His)

SNV
Germline

Chr3:97788002

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280069

rs_765715798

6 SubmittersRCV000171364 RCV001257839 RCV001852067 RCV002469042 RCV002485089

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
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Vitelliform macular dystrophy 5

Criteria Provided
Multiple Submitters
No Conflicts

CA236194

rs_786205564

5 SubmittersRCV000171366 RCV001003055 RCV001257825 RCV003987409

NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)

SNV
Germline

Chr3:101291499

Pathogenic/Likely pathogenic

Condition: not provided
Vitelliform macular dystrophy 5
Autosomal recessive retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA236196

rs_763295314

5 SubmittersRCV000171367 RCV000678577 RCV001257828

NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)

SNV
Germline

Chr4:16025218

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236211

rs_140872693

9 SubmittersRCV000171375 RCV000299552 RCV000356757 RCV000390528 RCV000348573 RCV000765766 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

Criteria Provided
Conflicting Classifications

CA236254

rs_770045008

5 SubmittersRCV000171394 RCV001257784 RCV003888608

NM_006915.3(RP2):c.2T>C (p.Met1Thr)

SNV
Germline

ChrX:46837102

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
X-linked retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA236346

rs_797044561

4 SubmittersRCV000171435 RCV001003180 RCV001257801

NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr)

SNV
Germline

Chr1:197429555

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA279259

rs_863223341

2 SubmittersRCV000201433 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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279322

rs_863223339

2 SubmittersRCV000201503 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

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA277670

rs_779007169

1 SubmittersRCV000201484

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
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

CA199772

rs_370540673

3 SubmittersRCV002492710 RCV002515241 RCV004562395

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
Retinitis pigmentosa 40
PDE6B-related disorder

Criteria Provided
Conflicting Classifications

CA238578

rs_555600300

7 SubmittersRCV000173097 RCV000779449 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

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA238591

rs_143166696

6 SubmittersRCV000724496 RCV001103768 RCV003888610

NM_000327.4(ROM1):c.81G>T (p.Leu27=)

SNV
Germline

Chr11:62613362

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA238593

rs_148196509

6 SubmittersRCV000173111 RCV000368177 RCV001729426

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

Criteria Provided
Conflicting Classifications

CA238610

rs_141252097

16 SubmittersRCV000173136 RCV000407624 RCV001073620 RCV001257852 RCV001376501

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

not specified
Condition: not provided
Retinitis pigmentosa 54
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA200359

rs_149601594

6 SubmittersRCV000173192 RCV000224337 RCV001283146 RCV001138933

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

Criteria Provided
Conflicting Classifications

CA238754

rs_201808774

4 SubmittersRCV000173289 RCV000206920 RCV001107413

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

Pathogenic/Likely pathogenic

Condition: not provided
Cone-rod dystrophy 15
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA238994

rs_794726954

5 SubmittersRCV000173546 RCV001589051 RCV001723745

NM_201548.5(CERKL):c.27G>A (p.Arg9=)

SNV
Germline

Chr2:181656980

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
not specified
Retinitis pigmentosa 26
CERKL-related disorder

Criteria Provided
Conflicting Classifications

CA239053

rs_368855330

8 SubmittersRCV000173594 RCV001138677 RCV001699051 RCV001271353 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_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_001034853.2(RPGR):c.1348T>C (p.Cys450Arg)

SNV
Germline

ChrX:38297350

Conflicting classifications of pathogenicity

Condition: not provided
X-linked cone-rod dystrophy 1
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA239469

rs_794727019

3 SubmittersRCV000173995 RCV001353107 RCV001360742

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
Retinitis pigmentosa 10
Leber congenital amaurosis 11
Condition: not provided
IMPDH1-related disorder

Criteria Provided
Conflicting Classifications

CA239483

rs_72624961

5 SubmittersRCV000174020 RCV000281510 RCV000322287 RCV000765929 RCV000877998 RCV004535194

NM_006017.3(PROM1):c.1345G>A (p.Val449Met)

SNV
Germline

Chr4:16006647

Conflicting classifications of pathogenicity

Condition: not provided
Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Cone-rod dystrophy 12
Retinitis pigmentosa 41
Retinal macular dystrophy type 2
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA239871

rs_200620291

7 SubmittersRCV000724359 RCV001147668 RCV001147667 RCV001151003 RCV001147666 RCV001535742 RCV004539610

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

Criteria Provided
Conflicting Classifications

CA240054

rs_146170855

4 SubmittersRCV000320799 RCV000723993

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
Retinitis pigmentosa
Retinitis pigmentosa 25
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA240287

rs_201652272

12 SubmittersRCV000174710 RCV000342934 RCV000678566 RCV001073420 RCV001844068

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_000440.3(PDE6A):c.1926+1G>A

SNV
Germline

Chr5:149884779

Pathogenic

Condition: not provided
Retinitis pigmentosa 43
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA275023

rs_794727139

5 SubmittersRCV000174847 RCV001376192 RCV001199499

NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln)

SNV
Germline

Chr16:1568260

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240556

rs_373111085

3 SubmittersRCV000174924 RCV001234939 RCV002478565

NM_206933.4(USH2A):c.3489C>T (p.Asp1163=)

SNV
Germline

Chr1:216199949

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA240980

rs_139156019

3 SubmittersRCV000175255 RCV001100643 RCV001100642

NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)

SNV
Germline

Chr6:64902146

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
EYS-related disorder

Criteria Provided
Conflicting Classifications

CA241009

rs_367857088

7 SubmittersRCV000175284 RCV000665715 RCV001161279 RCV001278511 RCV003917623

NM_001297.5(CNGB1):c.1626C>T (p.Thr542=)

SNV
Germline

Chr16:57923290

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Conflicting Classifications

CA201375

rs_148735841

7 SubmittersRCV000175289 RCV000384870 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
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA241169

rs_201819948

8 SubmittersRCV000175412 RCV000625444 RCV001161276 RCV001844069

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
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA241609

rs_180729424

5 SubmittersRCV000175822 RCV000302193 RCV000504802

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_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
Leber congenital amaurosis 8
Retinitis pigmentosa
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 RCV000277900 RCV000331649 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
IFT140-related disorder
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA241953

rs_754753583

4 SubmittersRCV000176094 RCV001039003 RCV003955044 RCV002492757

NM_001142800.2(EYS):c.3443+1G>T

SNV
Germline

Chr6:64813377

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275110

rs_373441420

11 SubmittersRCV000176281 RCV000724528 RCV001274886 RCV001074850 RCV003398889

NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)

SNV
Germline

Chr6:64813571

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242183

rs_778646190

8 SubmittersRCV000176282 RCV000673072 RCV001075858 RCV001277985 RCV003422070

NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys)

SNV
Germline

Chr16:57916137

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA242185

rs_192843629

7 SubmittersRCV000291964 RCV000724483 RCV001074215

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

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA242647

rs_794727412

6 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

Criteria Provided
Conflicting Classifications

CA243145

rs_150260489

2 SubmittersRCV000177043 RCV001088492

NM_000539.3(RHO):c.541G>A (p.Glu181Lys)

SNV
Germline

Chr3:129532261

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA275168

rs_775557680

12 SubmittersRCV000177081 RCV000504731 RCV000724301 RCV001074893

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_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
Bardet-Biedl syndrome
Retinitis pigmentosa
not specified
Bardet-Biedl syndrome 8
TTC8-related disorder

Criteria Provided
Conflicting Classifications

CA243607

rs_200113889

6 SubmittersRCV000177429 RCV001078936 RCV001117606 RCV001001279 RCV001117607 RCV003907599

NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)

SNV
Germline

Chr14:88840883

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Retinitis pigmentosa
Bardet-Biedl syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202465

rs_150880478

10 SubmittersRCV000177430 RCV000559336 RCV001117608 RCV001119197 RCV001706134

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

not specified
Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA202504

rs_148999583

10 SubmittersRCV000177529 RCV000761936 RCV000989610 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
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA245084

rs_144562730

7 SubmittersRCV000178068 RCV000288799 RCV000346036

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
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA275249

rs_794727631

9 SubmittersRCV000178152 RCV000505178 RCV000763560

NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn)

SNV
Germline

Chr8:54630078

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 1

Criteria Provided
Conflicting Classifications

CA245308

rs_149282954

6 SubmittersRCV000178261 RCV001165450 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
Retinitis pigmentosa
Retinitis pigmentosa 1
RP1-related disorder

Criteria Provided
Conflicting Classifications

CA245314

rs_151316028

8 SubmittersRCV000178266 RCV001163234 RCV001356977 RCV003895200

NM_206933.4(USH2A):c.7595-3C>G

SNV
Germline

Chr1:215889057

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275270

rs_201657446

12 SubmittersRCV000178475 RCV000504696 RCV000669197 RCV001075871 RCV001542728 RCV003445607 RCV004537466

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
Retinitis pigmentosa 39
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome type 2A
USH2A-related disorder

Reviewed By Expert Panel

CA275277

rs_372347027

14 SubmittersRCV000255827 RCV000666303 RCV000710348 RCV001074617 RCV001723753 RCV001842795 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

10 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

Criteria Provided
Conflicting Classifications

CA246087

rs_146995242

3 SubmittersRCV000178895 RCV001100608

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275315

rs_148660051

26 SubmittersRCV000179099 RCV000190637 RCV000505000 RCV000482080 RCV000515419 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
Retinitis pigmentosa
Phytanic acid storage disease
Retinal dystrophy
PHYH-related disorder

Criteria Provided
Conflicting Classifications

CA246715

rs_201499815

8 SubmittersRCV000179461 RCV000504947 RCV000673770 RCV001075452 RCV003927682

NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)

SNV
Germline

Chr17:6425644

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 4
Leber congenital amaurosis 4
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA246741

rs_150427474

7 SubmittersRCV000723621 RCV000765381 RCV001080307 RCV001124292

NM_015629.4(PRPF31):c.527+9G>T

SNV
Germline

Chr19:54123569

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 11
not specified
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA246757

rs_376994481

5 SubmittersRCV000179492 RCV000625320 RCV001698995 RCV001129022

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

14 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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA247395

rs_142857810

8 SubmittersRCV000488061 RCV001563786 RCV001376275 RCV001087243 RCV003888637

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_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

4 SubmittersRCV000186512 RCV001073959 RCV001246705 RCV002492860

NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)

SNV
Germline

Chr16:28482173

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

CA313722

rs_386833744

5 SubmittersRCV000187016 RCV000504655 RCV000812919 RCV001729444

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

4 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

Criteria Provided
Conflicting Classifications

CA350922

rs_144289912

8 SubmittersRCV000206927 RCV000371593 RCV001105649 RCV003917725

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
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA204566

rs_139021548

3 SubmittersRCV000190597 RCV001387370 RCV003488445

NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)

SNV
Germline

Chr6:64081899

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA275998

rs_797045089

9 SubmittersRCV000415866 RCV000190583 RCV001073318 RCV001272876

NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)

SNV
Germline

Chr6:65405349

Pathogenic/Likely pathogenic

Retinitis pigmentosa 25
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA276000

rs_752683070

5 SubmittersRCV000190584 RCV001074844 RCV001069674 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
Retinal dystrophy
Mucopolysaccharidosis, MPS-III-C
Condition: not provided
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Conflicting Classifications

CA204927

rs_754875934

8 SubmittersRCV000190843 RCV001003048 RCV001075594 RCV000675051 RCV002272169 RCV001049013

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
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Retinitis pigmentosa
HGSNAT-related disorder

Criteria Provided
Conflicting Classifications

CA204929

rs_112029032

23 SubmittersRCV000190845 RCV000190844 RCV000224674 RCV000507277 RCV000504631 RCV001082167 RCV001003049 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
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA204970

rs_376306240

8 SubmittersRCV000190988 RCV001049931 RCV000675071 RCV001002875 RCV001074319

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

15 SubmittersRCV000191142 RCV000484923 RCV000504830 RCV000675180 RCV001002723 RCV001073310 RCV001804928

NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg)

SNV
Germline

Chr16:57923327

Conflicting classifications of pathogenicity

Retinitis pigmentosa 45
Retinitis pigmentosa 49
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA358282

rs_201553871

4 SubmittersRCV000191921 RCV000490531 RCV001119868 RCV001489289

NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)

SNV
Germline

Chr2:73452960

Pathogenic

Alstrom syndrome
Retinal dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277244

rs_770558150

8 SubmittersRCV000194023 RCV001073778 RCV001723763 RCV003148669

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
Familial aplasia of the vermis
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Retinitis pigmentosa 23
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

Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
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

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
Bardet-Biedl syndrome 8
Condition: not provided
not specified
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA339465

rs_150896551

7 SubmittersRCV000200657 RCV001117715 RCV001579358 RCV000249386 RCV001116280

NM_144596.4(TTC8):c.1464G>C (p.Ala488=)

SNV
Germline

Chr14:88877326

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified
Retinitis pigmentosa
Bardet-Biedl syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336017

rs_142073418

7 SubmittersRCV000195887 RCV000248272 RCV001121289 RCV001119277 RCV001795322

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

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 49

Criteria Provided
Multiple Submitters
No Conflicts

CA351306

rs_759781200

5 SubmittersRCV001054103 RCV000987444 RCV001376331

NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)

SNV
Germline

Chr6:135433081

Pathogenic

Joubert syndrome 3
Condition: not provided
Retinitis pigmentosa
Familial aplasia of the vermis

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

Condition: not provided
Retinitis pigmentosa
Senior-Loken syndrome 5
Nephronophthisis
IQCB1-related disorder

Criteria Provided
Conflicting Classifications

CA348358

rs_140630401

6 SubmittersRCV000519668 RCV000787845 RCV001147493 RCV001082244 RCV003917846

NM_015662.3(IFT172):c.3880C>T (p.Arg1294Cys)

SNV
Germline

Chr2:27453455

Conflicting classifications of pathogenicity

Anophthalmia-microphthalmia syndrome
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA072574

rs_369191459

3 SubmittersRCV000207410 RCV001853288 RCV003888642

NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)

SNV
Germline

Chr1:216000442

Likely pathogenic

Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome

Reviewed By Expert Panel

CA354063

rs_869312182

3 SubmittersRCV000210323 RCV000225553 RCV000505157 RCV001171538

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_015629.4(PRPF31):c.1120C>T (p.Gln374Ter)

SNV
Germline

Chr19:54128351

Pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 11

Criteria Provided
Multiple Submitters
No Conflicts

CA353609

rs_869312187

4 SubmittersRCV000210312 RCV000760506 RCV001542614

NM_000440.3(PDE6A):c.1408-2A>G

SNV
Germline

Chr5:149896778

Pathogenic

Retinitis pigmentosa 43

No Assertion Criteria Provided

CA16609339

rs_1060499536

1 SubmittersRCV000210743

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

Criteria Provided
Conflicting Classifications

CA1312195

rs_114052315

5 SubmittersRCV000262643 RCV000329706 RCV000490294 RCV000946241 RCV001275655 RCV003888643

NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)

SNV
Germline

Chr1:215766729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1393854

rs_150822759

7 SubmittersRCV000505039 RCV000490445 RCV002515601 RCV002503836 RCV003454559 RCV003888648

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
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1394970

rs_201281141

5 SubmittersRCV000490448 RCV000665617 RCV002282046 RCV002517445

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

Criteria Provided
Conflicting Classifications

CA1393098

rs_148674752

6 SubmittersRCV000221554 RCV000763827 RCV001272936 RCV001422550

NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)

SNV
Germline

Chr1:215675211

Conflicting classifications of pathogenicity

Usher syndrome
Rare genetic deafness
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA10576374

rs_577938494

3 SubmittersRCV000221320 RCV001376369

NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)

SNV
Germline

Chr1:215680298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1393526

rs_143696882

9 SubmittersRCV000213372 RCV000504751 RCV001074362 RCV001241460 RCV001810438 RCV003462402 RCV004529374

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

Criteria Provided
Conflicting Classifications

CA1393991

rs_147374057

4 SubmittersRCV000217733 RCV000763829 RCV001274951 RCV001453428

NM_206933.4(USH2A):c.9570+1G>A

SNV
Germline

Chr1:215816996

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1394291

rs_760225886

13 SubmittersRCV000217703 RCV000666079 RCV001073320 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
Retinal dystrophy
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1394520

rs_766590491

10 SubmittersRCV000213731 RCV000666615 RCV001075409 RCV001273711 RCV001091129

NM_206933.4(USH2A):c.8681+1G>A

SNV
Germline

Chr1:215877757

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10576378

rs_876657733

6 SubmittersRCV000222048 RCV000673469 RCV003226253 RCV003445710 RCV003688833

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10576384

rs_876657731

21 SubmittersRCV000213465 RCV000255459 RCV001002706 RCV001003271 RCV001074367 RCV001375185 RCV001257907 RCV001542730 RCV001723796 RCV002500705

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1396625

rs_397517963

9 SubmittersRCV000213203 RCV000668930 RCV000822071 RCV001003287 RCV001074876 RCV001273812 RCV003454598

NM_206933.4(USH2A):c.486-1G>C

SNV
Germline

Chr1:216418680

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10576390

rs_876657730

8 SubmittersRCV000220465 RCV000578546 RCV000667749 RCV001097549 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
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 1B
Pendred syndrome

Criteria Provided
Conflicting Classifications

CA6198019

rs_199810429

11 SubmittersRCV000220951 RCV000299195 RCV000337813 RCV000390552 RCV000585568 RCV000787855 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1396001

rs_775177930

6 SubmittersRCV001073837 RCV000986539 RCV001857783 RCV002298551 RCV003445719

NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)

SNV
Germline

Chr1:94005511

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602410

rs_886044758

4 SubmittersRCV000408446 RCV000480932 RCV000763439

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
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA957302

rs_760549861

11 SubmittersRCV000408555 RCV000441041 RCV000826133 RCV001074401 RCV002485455

NM_000350.3(ABCA4):c.4253+5G>A

SNV
Germline

Chr1:94030991

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602432

rs_61750138

6 SubmittersRCV000408462 RCV000504972 RCV000515660 RCV001854783 RCV004526649

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
Cone-rod dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA957928

rs_768278935

6 SubmittersRCV000408467 RCV000761669 RCV001257844 RCV002267731 RCV003330593

NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)

SNV
Germline

Chr1:94046943

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease
Cone-rod dystrophy
Macular dystrophy
Retinitis pigmentosa
Retinal dystrophy
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA958124

rs_201471607

11 SubmittersRCV000408500 RCV000413621 RCV000787490 RCV000787491 RCV000787492 RCV000787770 RCV001074886 RCV004558582

NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)

SNV
Germline

Chr1:94046962

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Severe early-childhood-onset retinal dystrophy
Macular degeneration
Stargardt Disease, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA958130

rs_368846708

4 SubmittersRCV000323631 RCV000278622 RCV000408538 RCV000338922 RCV000373695 RCV000425865 RCV000778260

NM_000350.3(ABCA4):c.2160+1G>T

SNV
Germline

Chr1:94060536

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602443

rs_61749427

4 SubmittersRCV000408563 RCV001075206 RCV001352989 RCV001854780

NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)

SNV
Germline

Chr1:94063180

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Severe early-childhood-onset retinal dystrophy
Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
ABCA4-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA958456

rs_143263315

6 SubmittersRCV000339859 RCV000408477 RCV000290027 RCV000325173 RCV000382014 RCV001100049 RCV001441278 RCV003258709

NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)

SNV
Germline

Chr1:94063258

Conflicting classifications of pathogenicity

Macular degeneration
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Condition: not provided
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA958466

rs_201602424

6 SubmittersRCV000312006 RCV000337235 RCV000298675 RCV000391529 RCV000408457 RCV001100053 RCV001522285 RCV003888651 RCV004020725

NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)

SNV
Germline

Chr1:94108702

Conflicting classifications of pathogenicity

Macular degeneration
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
ABCA4-related disorder
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958865

rs_201150919

5 SubmittersRCV000400700 RCV000283229 RCV000377526 RCV000347578 RCV001100157 RCV001520655 RCV003888650

NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)

SNV
Germline

Chr1:94112973

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA10602457

rs_886044720

3 SubmittersRCV000408466 RCV002485454

NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)

SNV
Germline

Chr1:197427633

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1312098

rs_767648174

8 SubmittersRCV000225453 RCV001069480 RCV001376283 RCV001833240 RCV003454681 RCV003454682

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

Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA10581632

rs_878853367

2 SubmittersRCV000225544 RCV002519764

NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)

SNV
Germline

Chr1:215728383

Likely pathogenic

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

Reviewed By Expert Panel

CA1393629

rs_368675850

14 SubmittersRCV000225477 RCV000482491 RCV000675144 RCV001252669 RCV003324522 RCV003137832 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

8 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
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA10581638

rs_878853413

6 SubmittersRCV000225445 RCV001383883 RCV003389466 RCV004567690 RCV003454686

NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)

SNV
Germline

Chr1:216048579

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10581641

rs_878853412

8 SubmittersRCV000225627 RCV000281204 RCV000669603 RCV000504766 RCV001833242 RCV003469119

NM_206933.4(USH2A):c.2139C>T (p.Gly713=)

SNV
Germline

Chr1:216250931

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1396299

rs_765293412

4 SubmittersRCV000225689 RCV001300492 RCV002487041 RCV001833241

NM_000329.3(RPE65):c.726-2A>C

SNV
Germline

Chr1:68439325

Pathogenic

Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA10581648

rs_878853372

2 SubmittersRCV000225374 RCV003765455

NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln)

SNV
Germline

Chr2:112019513

Pathogenic

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA10581654

rs_878853354

3 SubmittersRCV000225669 RCV000505072 RCV001383851

NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr)

SNV
Germline

Chr2:112021534

Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA10581655

rs_878853353

3 SubmittersRCV000225591 RCV001854798 RCV001723812

NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter)

SNV
Germline

Chr2:61839540

Pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 28

Criteria Provided
Multiple Submitters
No Conflicts

CA10581656

rs_761440783

4 SubmittersRCV000225381 RCV001231541 RCV001828102

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
Retinitis pigmentosa
Retinitis pigmentosa 49

Criteria Provided
Multiple Submitters
No Conflicts

CA2911061

rs_199584830

8 SubmittersRCV000225417 RCV000505102 RCV001246009 RCV001376521 RCV002478826

NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)

SNV
Germline

Chr6:64307024

Pathogenic

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10581668

rs_878853350

5 SubmittersRCV000225657 RCV001003018 RCV001854796

NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)

SNV
Germline

Chr6:65402507

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 25
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA3877854

rs_143994166

10 SubmittersRCV000225560 RCV000664630 RCV001205723 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

4 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

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa

No Assertion Criteria Provided

CA10581700

rs_878853394

2 SubmittersRCV000225584 RCV000505159

NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter)

SNV
Germline

Chr19:54128187

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA309329313

rs_868538598

5 SubmittersRCV000225648 RCV001723811 RCV001854793

NM_021831.6(AGBL5):c.883G>A (p.Asp295Asn)

SNV
Germline

Chr2:27055228

Likely 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

4 SubmittersRCV000234932 RCV002518415

NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)

SNV
Germline

Chr6:63721609

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3876710

rs_111991705

11 SubmittersRCV000239188 RCV000757241 RCV000667682 RCV001164472 RCV003888653

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10586138

rs_370717845

4 SubmittersRCV000239404 RCV001030804 RCV003765485

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

Criteria Provided
Single Submitter

CA6982724

rs_200826424

3 SubmittersRCV000239605 RCV000258084 RCV001857843

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA833593

rs_200863680

5 SubmittersRCV000240954 RCV001333961 RCV001854940 RCV003133196 RCV003479082

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

Criteria Provided
Conflicting Classifications

CA3808535

rs_189358082

3 SubmittersRCV000248113 RCV000369961 RCV000281424 RCV000391588 RCV000315389 RCV000336463 RCV000406240 RCV000945845

NM_144596.4(TTC8):c.-25G>A

SNV
Germline

Chr14:88824683

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 8
Retinitis pigmentosa
TTC8-related disorder

Criteria Provided
Conflicting Classifications

CA7302283

rs_7145692

2 SubmittersRCV000270079 RCV000362261 RCV003891984

NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)

SNV
Germline

Chr14:88839501

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified
Bardet-Biedl syndrome 8
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7302389

rs_114557412

6 SubmittersRCV000470558 RCV000253058 RCV001117604 RCV001117605

NM_144596.4(TTC8):c.669G>A (p.Lys223=)

SNV
Germline

Chr14:88853015

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Retinitis pigmentosa
Bardet-Biedl syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7302555

rs_141304350

4 SubmittersRCV000245276 RCV000316005 RCV000372849 RCV001094457 RCV001531819

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 1
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8066062

rs_11373

11 SubmittersRCV000241605 RCV000261972 RCV000709672 RCV000576482 RCV001526785 RCV001706364 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, Dominant
Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA8328687

rs_188246267

2 SubmittersRCV000251131 RCV000325640 RCV000296424 RCV000382676

NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)

SNV
Germline

Chr1:197328935

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1311659

rs_764256655

9 SubmittersRCV000255600 RCV000656138 RCV001075823 RCV001040337 RCV001542640 RCV002500956 RCV003454773 RCV003454774

NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter)

SNV
Germline

Chr1:216072910

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1395342

rs_751130485

6 SubmittersRCV000255960 RCV001276244 RCV003475859 RCV003888668

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
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
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
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 RCV000984296 RCV000984297 RCV000984298 RCV000984299 RCV002518761 RCV002500958 RCV003155140 RCV003463717

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
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA10588302

rs_145961131

6 SubmittersRCV000256006 RCV000504776 RCV001075471 RCV002518745

NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)

SNV
Germline

Chr1:94083372

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA958711

rs_138682163

4 SubmittersRCV000255612 RCV000764206 RCV004542963

NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)

SNV
Germline

Chr8:43193790

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4736872

rs_753355844

6 SubmittersRCV000255417 RCV000587936 RCV000665568 RCV000763185

NM_206933.4(USH2A):c.9258+1G>A

SNV
Germline

Chr1:215844293

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1394380

rs_748810737

10 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
Retinal dystrophy
Usher syndrome
Condition: not provided

Reviewed By Expert Panel

CA10588918

rs_886039867

8 SubmittersRCV000256390 RCV000678635 RCV001075572 RCV001171534 RCV001240204

NM_201548.5(CERKL):c.1012C>T (p.Arg338Ter)

SNV
Germline

Chr2:181548741

Pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA2010592

rs_748394238

6 SubmittersRCV000306208 RCV001277030

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
Retinitis pigmentosa
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7814454

rs_770185023

7 SubmittersRCV000326779 RCV000516131 RCV001055096 RCV001376438 RCV003155145 RCV002503978

NM_000390.4(CHM):c.757C>T (p.Arg253Ter)

SNV
Germline

ChrX:85958923

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10603741

rs_886041178

4 SubmittersRCV000265578 RCV000787565 RCV003888669

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
Senior-Loken syndrome 6
not specified
Joubert syndrome 5
Meckel syndrome, type 4
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Inborn genetic diseases
Leber congenital amaurosis
Condition: not provided
Kidney disorder
Retinitis pigmentosa
Stuve-Wiedemann syndrome 2

Criteria Provided
Conflicting Classifications

CA6712623

rs_201988582

14 SubmittersRCV000280320 RCV000342452 RCV000320212 RCV000354111 RCV000396707 RCV000374721 RCV000637003 RCV000714822 RCV001265795 RCV001275039 RCV001580478 RCV002294212 RCV001589313 RCV003319345

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

Criteria Provided
Conflicting Classifications

CA4751646

rs_35234349

4 SubmittersRCV000313881 RCV000962335 RCV001002272

NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)

SNV
Germline

Chr1:68444798

Pathogenic

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

Reviewed By Expert Panel

CA10603953

rs_886042220

4 SubmittersRCV000288725 RCV002519096 RCV003765588 RCV004567825

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

Criteria Provided
Conflicting Classifications

CA7722243

rs_142244640

4 SubmittersRCV000300142 RCV000343652 RCV000357376 RCV000399933 RCV002222466

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
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome

Reviewed By Expert Panel

CA1393449

rs_750396156

18 SubmittersRCV000498898 RCV000504963 RCV000675149 RCV000678644 RCV001075586 RCV001089679

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

Criteria Provided
Conflicting Classifications

CA7640242

rs_200102936

4 SubmittersRCV000263332 RCV001119724 RCV001118176

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
Macular degeneration
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA958501

rs_140482171

9 SubmittersRCV000264059 RCV000270788 RCV000328209 RCV000385092 RCV000505101 RCV000512657 RCV000844930 RCV001073584 RCV001102037

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_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
Hearing impairment
Usher syndrome type 2A
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1396646

rs_371777049

15 SubmittersRCV000276147 RCV000666542 RCV001074790 RCV000754554 RCV001828199 RCV002229842

NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)

SNV
Germline

Chr16:56497013

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8065604

rs_201196733

8 SubmittersRCV000335732 RCV000424669 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

6 SubmittersRCV000261042 RCV000725573 RCV000765822 RCV003888675

NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)

SNV
Germline

Chr1:46193580

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
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA833537

rs_138745073

7 SubmittersRCV000324220 RCV000763934 RCV001855150 RCV002518961 RCV003888676

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
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
Usher syndrome
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10605103

rs_886043096

4 SubmittersRCV000308238 RCV003323493 RCV001723872

NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)

SNV
Germline

Chr6:42721968

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3808629

rs_563581127

5 SubmittersRCV000403427 RCV000791184 RCV001165012 RCV001165011 RCV001165007 RCV001165008 RCV001165009 RCV001165010

NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr)

SNV
Germline

Chr1:197429581

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1312210

rs_114630940

5 SubmittersRCV000376545 RCV001275656 RCV001080703 RCV003888680 RCV004529472

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_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

Criteria Provided
Conflicting Classifications

CA1396227

rs_34447581

5 SubmittersRCV000339482 RCV000371237 RCV000405347

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
Cone-rod dystrophy 12
Condition: not provided
Retinal macular dystrophy type 2

Criteria Provided
Conflicting Classifications

CA2866581

rs_62617075

5 SubmittersRCV000297319 RCV000303280 RCV000342856 RCV000356389 RCV000390893

NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys)

SNV
Germline

Chr6:10784484

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3633444

rs_149006687

4 SubmittersRCV000332343 RCV000306405 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
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3876709

rs_144513453

9 SubmittersRCV000333936 RCV000665932 RCV000965012 RCV001164471

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

Criteria Provided
Conflicting Classifications

CA3772766

rs_149980694

3 SubmittersRCV000271258 RCV000274503 RCV000302940

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_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_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

Retinitis pigmentosa
Vitelliform macular dystrophy 2
not specified
Autosomal dominant vitreoretinochoroidopathy
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6040767

rs_182941675

4 SubmittersRCV000314904 RCV000349792 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
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312032

rs_144436610

7 SubmittersRCV000313740 RCV000363592 RCV000407701 RCV000585260 RCV001082136 RCV001833395

NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys)

SNV
Germline

Chr1:197427597

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312087

rs_201700675

3 SubmittersRCV000371225 RCV001067120 RCV001828271

NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)

SNV
Germline

Chr1:46196816

Conflicting classifications of pathogenicity

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
Muscle eye brain disease
Muscle eye brain disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA833803

rs_139701867

7 SubmittersRCV000524954 RCV000407599 RCV000763938 RCV001275757 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_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)

SNV
Germline

Chr4:15537003

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863732

rs_201954181

6 SubmittersRCV000335348 RCV001149502 RCV001149503 RCV002487294 RCV002518166 RCV001248140 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
Retinitis Pigmentosa, Recessive
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1311873

rs_375141011

2 SubmittersRCV000304813 RCV000336321 RCV000401040 RCV001491386

NM_201253.3(CRB1):c.2419C>T (p.Leu807=)

SNV
Germline

Chr1:197427744

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1312121

rs_371089348

2 SubmittersRCV000306210 RCV000359746 RCV000391747 RCV000951208

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8

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

Criteria Provided
Conflicting Classifications

CA1386164

rs_74607124

2 SubmittersRCV000384014 RCV001452302

NM_206933.4(USH2A):c.3177G>A (p.Pro1059=)

SNV
Germline

Chr1:216207412

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396059

rs_767648070

2 SubmittersRCV000328804 RCV000383428 RCV001495406

NM_206933.4(USH2A):c.3157+12C>T

SNV
Germline

Chr1:216217375

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396084

rs_199853422

2 SubmittersRCV000288109 RCV000326688 RCV001509796

NM_206933.4(USH2A):c.1539C>T (p.Thr513=)

SNV
Germline

Chr1:216323485

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396495

rs_199939890

4 SubmittersRCV000278735 RCV000375855 RCV001172230

NM_206933.4(USH2A):c.486-15C>T

SNV
Germline

Chr1:216418694

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1396772

rs_114194722

7 SubmittersRCV000292417 RCV000389034 RCV000606338 RCV001520242 RCV004537640

NM_014053.4(FLVCR1):c.981C>T (p.Asn327=)

SNV
Germline

Chr1:212872775

Conflicting classifications of pathogenicity

Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10609078

rs_886045928

2 SubmittersRCV000361834 RCV001408048

NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)

SNV
Germline

Chr1:216199906

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1395972

rs_372081834

11 SubmittersRCV000356379 RCV000394505 RCV000611914 RCV000943840 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

Criteria Provided
Conflicting Classifications

CA1396011

rs_146372677

5 SubmittersRCV000277125 RCV000332273 RCV000908710 RCV004537639

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8

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
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312077

rs_140494140

3 SubmittersRCV000266368 RCV000360994 RCV001242513 RCV001828286

NM_201253.3(CRB1):c.2230C>A (p.Arg744=)

SNV
Germline

Chr1:197427555

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1312078

rs_150412614

6 SubmittersRCV000281831 RCV000317013 RCV000371666 RCV000418233 RCV000945740 RCV001073755 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
Retinitis pigmentosa 12
Leber congenital amaurosis 8

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
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
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1312328

rs_116246250

2 SubmittersRCV000269228 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
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 12
CRB1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1311688

rs_114846212

7 SubmittersRCV000285066 RCV000347681 RCV000384124 RCV000945440 RCV001271894 RCV003888696 RCV003454863 RCV004537638 RCV004567846

NM_201253.3(CRB1):c.1752C>T (p.Asp584=)

SNV
Germline

Chr1:197421580

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1311978

rs_750442312

4 SubmittersRCV000279892 RCV000334922 RCV000400239 RCV000893286 RCV001833418 RCV003888697

NM_201253.3(CRB1):c.2010T>C (p.Cys670=)

SNV
Germline

Chr1:197421838

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1312017

rs_201949837

2 SubmittersRCV000293851 RCV000348791 RCV000401010 RCV001435530

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

Criteria Provided
Conflicting Classifications

CA1312377

rs_142090517

3 SubmittersRCV000272687 RCV000320691 RCV000377313 RCV000964610 RCV003888699

NM_201253.3(CRB1):c.3750-3T>C

SNV
Germline

Chr1:197438544

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1312396

rs_187937543

3 SubmittersRCV000285227 RCV000342421 RCV000371471 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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1386005

rs_41297444

4 SubmittersRCV000266137 RCV000516759 RCV001642907

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

Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided
Retinal dystrophy
Inborn genetic diseases
FLVCR1-related disorder

Criteria Provided
Conflicting Classifications

CA1386229

rs_149887215

9 SubmittersRCV000387027 RCV000422945 RCV001074738 RCV002519488 RCV003930223

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
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396007

rs_755765979

2 SubmittersRCV000298283 RCV000353037 RCV002059427

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

Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396852

rs_774473277

2 SubmittersRCV000285688 RCV000402756 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

2 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 RCV001196851 RCV000923552

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
ABCA4-related disorder
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA956899

rs_202127235

3 SubmittersRCV000294673 RCV000315923 RCV000349548 RCV000389153 RCV001099679 RCV001424033 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
Stargardt Disease, Recessive
Macular degeneration
Condition: not provided
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA957429

rs_114518437

4 SubmittersRCV000301076 RCV000340669 RCV000393458 RCV000353628 RCV000486564 RCV001075649 RCV001101750

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
Condition: not provided
Retinitis Pigmentosa, Recessive
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA957556

rs_138831474

3 SubmittersRCV000310399 RCV000350024 RCV000362798 RCV000488110 RCV000406989 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
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA958253

rs_138246242

2 SubmittersRCV000289234 RCV000346485 RCV000401493 RCV000401706 RCV001096534 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
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA958722

rs_567985213

4 SubmittersRCV000286376 RCV000334279 RCV000393402 RCV000402094 RCV001241582 RCV003888708 RCV002522135

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
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA957287

rs_202199507

3 SubmittersRCV000262810 RCV000302869 RCV000355388 RCV000403051 RCV002059506 RCV001099764

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
Cone-Rod Dystrophy, Recessive
Macular degeneration
Stargardt Disease, Recessive
not specified
ABCA4-related disorder
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957663

rs_142673376

4 SubmittersRCV000306201 RCV000358611 RCV000345844 RCV000408394 RCV000603618 RCV001098066 RCV001074568 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

Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957691

rs_763857670

2 SubmittersRCV000285098 RCV000284073 RCV000342444 RCV000400653 RCV001098070 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
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA958166

rs_76305791

2 SubmittersRCV000263987 RCV000323753 RCV000360065 RCV000358873 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

Criteria Provided
Conflicting Classifications

CA1831307

rs_142985827

5 SubmittersRCV000289934 RCV000729320

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

Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Macular degeneration
Cone-Rod Dystrophy, Recessive
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10611614

rs_761867791

2 SubmittersRCV000264727 RCV000280073 RCV000319805 RCV000374572 RCV001099678 RCV001380600

NM_000329.3(RPE65):c.1194C>T (p.Asp398=)

SNV
Germline

Chr1:68431520

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Conflicting Classifications

CA902256

rs_139640666

2 SubmittersRCV000312204 RCV000403263 RCV000940201

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

4 SubmittersRCV000266769 RCV000269853 RCV000306349 RCV000361052 RCV000922637 RCV001096232 RCV003888705

NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=)

SNV
Germline

Chr1:94025015

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Macular degeneration
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957557

rs_774957381

2 SubmittersRCV000270263 RCV000264287 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
ABCA4-related disorder
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957897

rs_75267647

5 SubmittersRCV000261992 RCV000297212 RCV000331144 RCV000356767 RCV001096426 RCV000894101 RCV001073731

NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=)

SNV
Germline

Chr1:94043463

Conflicting classifications of pathogenicity

Macular degeneration
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10611639

rs_886046565

2 SubmittersRCV000298413 RCV000334643 RCV000399846 RCV000392686 RCV001098167 RCV002520514

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

Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Macular degeneration
Stargardt Disease, Recessive
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10611712

rs_886046564

2 SubmittersRCV000263027 RCV000315841 RCV000321629 RCV000374011 RCV001096335 RCV002520511

NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=)

SNV
Germline

Chr1:94031856

Conflicting classifications of pathogenicity

Macular degeneration
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Condition: not provided
ABCA4-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA957737

rs_141004967

7 SubmittersRCV000297155 RCV000337011 RCV000354394 RCV000392768 RCV000909683 RCV001099859 RCV001699431

NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)

SNV
Germline

Chr1:94077722

Conflicting classifications of pathogenicity

Macular degeneration
ABCA4-related disorder
Retinitis Pigmentosa, Recessive
Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958507

rs_138157885

5 SubmittersRCV000286324 RCV000321513 RCV000378419 RCV001073691 RCV003323503 RCV001303441 RCV001590914

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

Criteria Provided
Conflicting Classifications

CA958756

rs_372976742

3 SubmittersRCV000299375 RCV000312349 RCV000337928 RCV000401167 RCV001098365 RCV002059509

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
Condition: not provided
MERTK-related disorder

Criteria Provided
Conflicting Classifications

CA1830985

rs_527694612

3 SubmittersRCV000305032 RCV001410430 RCV003957700

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

4 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

Retinitis pigmentosa
Condition: not provided
MERTK-related disorder

Criteria Provided
Conflicting Classifications

CA1831231

rs_373198570

4 SubmittersRCV000352605 RCV000596593 RCV003950138

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831308

rs_138908058

2 SubmittersRCV000347356 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

Criteria Provided
Conflicting Classifications

CA2010869

rs_149078111

5 SubmittersRCV000276396 RCV000614379 RCV000886395 RCV003888786

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
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1577833

rs_112828880

2 SubmittersRCV000381347 RCV000884170 RCV001137870

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

Criteria Provided
Conflicting Classifications

CA2010409

rs_141656965

2 SubmittersRCV000339011 RCV001466695

NM_201548.5(CERKL):c.735G>C (p.Leu245=)

SNV
Germline

Chr2:181558651

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

CA2010673

rs_140898616

7 SubmittersRCV000400556 RCV000593769 RCV000625303

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
not specified
Retinitis pigmentosa 28
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1678948

rs_138464813

7 SubmittersRCV000336675 RCV001700069 RCV000625246 RCV000734472

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

Criteria Provided
Conflicting Classifications

CA1778153

rs_377641548

3 SubmittersRCV000339024 RCV000597447

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

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10614233

rs_886056468

2 SubmittersRCV000372051 RCV001451750

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

Criteria Provided
Conflicting Classifications

CA2518978

rs_76048775

4 SubmittersRCV000302368 RCV001058248 RCV003888819

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
Condition: not provided
Retinitis pigmentosa 54
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1592393

rs_80151896

4 SubmittersRCV000339383 RCV000757047 RCV001282964 RCV003888797

NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)

SNV
Germline

Chr2:29072965

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided
Retinitis pigmentosa 54
PCARE-related disorder

Criteria Provided
Conflicting Classifications

CA1592458

rs_200696965

8 SubmittersRCV000355654 RCV000489456 RCV000766629 RCV000765664 RCV003922450

NM_001029883.3(PCARE):c.102C>T (p.Gly34=)

SNV
Germline

Chr2:29074160

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1592721

rs_149915190

3 SubmittersRCV000407783 RCV000948594 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

Criteria Provided
Conflicting Classifications

CA1679299

rs_377016856

3 SubmittersRCV000269398 RCV000928354 RCV003888805

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.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

Criteria Provided
Conflicting Classifications

CA2519247

rs_148056371

4 SubmittersRCV000375226 RCV000949263 RCV001000670

NM_001278293.3(ARL6):c.536-4T>C

SNV
Germline

Chr3:97798020

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2607168

rs_151063543

6 SubmittersRCV000309251 RCV000389975 RCV001700071 RCV000732353

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

Criteria Provided
Conflicting Classifications

CA2607346

rs_138831590

3 SubmittersRCV000295474 RCV000380819 RCV001322065 RCV003401364

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
Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10617341

rs_886059203

2 SubmittersRCV000295982 RCV000348661 RCV000388013 RCV000394593 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

2 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

Criteria Provided
Conflicting Classifications

CA2794178

rs_145756948

2 SubmittersRCV000327738 RCV000382287 RCV001244128

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2795009

rs_141563823

4 SubmittersRCV000339477 RCV000404018 RCV001091293 RCV000678595

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

2 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

6 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

2 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
PDE6B-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2795114

rs_141647790

5 SubmittersRCV000283346 RCV000338358 RCV000591409 RCV004545766 RCV004021968

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

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504459

rs_147047715

3 SubmittersRCV000371829 RCV000906829 RCV003888837

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
Condition: not provided
Retinitis pigmentosa 43
Usher syndrome

Criteria Provided
Conflicting Classifications

CA3505097

rs_199924410

4 SubmittersRCV000401940 RCV001417212 RCV002470846 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

Criteria Provided
Conflicting Classifications

CA2867174

rs_201701647

3 SubmittersRCV000273204 RCV000308324 RCV000363045 RCV000400360 RCV001439949

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

Criteria Provided
Conflicting Classifications

CA2866319

rs_747844753

2 SubmittersRCV000261335 RCV000318837 RCV000353914 RCV000375741 RCV001861228

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
Cone-rod dystrophy 12
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866732

rs_201870277

4 SubmittersRCV000283728 RCV000322364 RCV000323535 RCV000380476 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
Retinitis pigmentosa
Retinal macular dystrophy type 2
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2867001

rs_187116049

3 SubmittersRCV000283971 RCV000345958 RCV000376482 RCV000384160 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
Retinitis pigmentosa 43
Condition: not provided
Usher syndrome

Criteria Provided
Conflicting Classifications

CA3505085

rs_199738915

4 SubmittersRCV000353155 RCV002470845 RCV001487723 RCV003389470

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
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2794787

rs_768939011

3 SubmittersRCV000344856 RCV000402966 RCV003888833 RCV002523475

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

Criteria Provided
Conflicting Classifications

CA2794105

rs_780521818

5 SubmittersRCV000377308 RCV000504695 RCV001376332 RCV001543444

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
Retinitis pigmentosa 25
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3876855

rs_201304559

6 SubmittersRCV000401845 RCV001833474 RCV000998642 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

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
not specified

Criteria Provided
Conflicting Classifications

CA3878102

rs_111947397

7 SubmittersRCV000955361 RCV000398864 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
IMPDH1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4471065

rs_144659635

7 SubmittersRCV000287544 RCV000347099 RCV000521919 RCV004544684 RCV003168555

NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val)

SNV
Germline

Chr5:149860929

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
PDE6A-related disorder

Criteria Provided
Conflicting Classifications

CA3504232

rs_138315990

5 SubmittersRCV000306846 RCV000414303 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

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3505066

rs_192618681

2 SubmittersRCV000348073 RCV001434091

NM_000440.3(PDE6A):c.343G>A (p.Val115Ile)

SNV
Germline

Chr5:149944331

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3505072

rs_147159579

2 SubmittersRCV000282797 RCV001497572

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504691

rs_201527437

2 SubmittersRCV000307692 RCV001513739

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
Condition: not provided
Retinitis pigmentosa 43
not specified

Criteria Provided
Conflicting Classifications

CA3505029

rs_138274547

5 SubmittersRCV000296760 RCV000964262 RCV001287033 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

Criteria Provided
Conflicting Classifications

CA3808464

rs_752365478

2 SubmittersRCV000290210 RCV000305394 RCV000341580 RCV000345147 RCV000376706 RCV000407997 RCV001424704

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
Retinal dystrophy
not specified
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3876779

rs_191846522

7 SubmittersRCV000318554 RCV000729238 RCV001075262 RCV001700089 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
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA10624519

rs_201916371

3 SubmittersRCV000399578 RCV000902508 RCV001274974

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
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3877329

rs_376807770

5 SubmittersRCV000284388 RCV000914157 RCV001074467 RCV001277010

NM_001142800.2(EYS):c.1899A>G (p.Gln633=)

SNV
Germline

Chr6:65295987

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
not specified

Criteria Provided
Conflicting Classifications

CA3877361

rs_373197894

5 SubmittersRCV000300630 RCV000905514 RCV001277012 RCV001700090

NM_001142800.2(EYS):c.632G>T (p.Cys211Phe)

SNV
Germline

Chr6:65494779

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3878045

rs_772707303

2 SubmittersRCV000352873 RCV001247398

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
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

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
Condition: not provided
RP1-related disorder

Criteria Provided
Conflicting Classifications

CA4751657

rs_759707480

3 SubmittersRCV000342171 RCV002524568 RCV003922636

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3633519

rs_62000445

4 SubmittersRCV000349993 RCV000971523 RCV001700085

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.5821C>T (p.Gln1941Ter)

SNV
Germline

Chr8:10608277

Conflicting classifications of pathogenicity

Occult macular dystrophy
Condition: not provided
Retinitis pigmentosa 88
not specified

Criteria Provided
Conflicting Classifications

CA4623523

rs_201017122

5 SubmittersRCV000376023 RCV000584938 RCV001591030 RCV003230487

NM_000322.5(PRPH2):c.*1565G>A

SNV
Germline

Chr6:42696730

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10626750

rs_41273818

2 SubmittersRCV000304416 RCV000303237 RCV000334298 RCV000361524 RCV000395085 RCV000406284 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
Patterned macular dystrophy 1
Cone-Rod Dystrophy, Dominant
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 RCV000311099 RCV000326330 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
not specified
Autosomal recessive retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3877071

rs_772339340

7 SubmittersRCV000390985 RCV000625443 RCV001699391 RCV001274976 RCV000935259

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

Criteria Provided
Conflicting Classifications

CA3877846

rs_182780299

3 SubmittersRCV000292057 RCV000611732 RCV001509797

NM_001142800.2(EYS):c.8233+8T>G

SNV
Germline

Chr6:63726511

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627396

rs_886061666

2 SubmittersRCV000385930 RCV002058622

NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile)

SNV
Germline

Chr6:65402517

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3877857

rs_144935927

4 SubmittersRCV000969945 RCV000382952 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
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA10627414

rs_370140172

3 SubmittersRCV000305805 RCV001519650 RCV001833477

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

Criteria Provided
Conflicting Classifications

CA10627418

rs_145321084

4 SubmittersRCV000328133 RCV000838530

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10627422

rs_886061683

3 SubmittersRCV000330833 RCV000927926 RCV004526670

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
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3878094

rs_112609906

5 SubmittersRCV000337683 RCV000917647 RCV001074806 RCV001277025

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
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3901128

rs_200395970

5 SubmittersRCV000400678 RCV001199700 RCV001553635 RCV001861293

NM_152419.3(HGSNAT):c.111G>A (p.Pro37=)

SNV
Germline

Chr8:43140607

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

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

Criteria Provided
Conflicting Classifications

CA4736810

rs_201346206

9 SubmittersRCV000346177 RCV001256203 RCV001196774 RCV001240733 RCV001584092 RCV001700100 RCV002523685

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
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4470765

rs_147882304

2 SubmittersRCV000363032 RCV000396001 RCV001518880

NM_000883.4(IMPDH1):c.888C>T (p.Ile296=)

SNV
Germline

Chr7:128398600

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4470993

rs_72624957

2 SubmittersRCV000342291 RCV000381950 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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5487234

rs_146045906

5 SubmittersRCV000369770 RCV000971293 RCV001700043

NM_022124.6(CDH23):c.9198+13C>T

SNV
Germline

Chr10:71811448

Conflicting classifications of pathogenicity

Retinitis pigmentosa-deafness syndrome
not specified
Condition: not provided
Hearing loss, autosomal recessive

Criteria Provided
Conflicting Classifications

CA5546916

rs_375384238

3 SubmittersRCV000334748 RCV000608038 RCV002056129 RCV004577765

NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)

SNV
Germline

Chr8:10610127

Conflicting classifications of pathogenicity

Occult macular dystrophy
Condition: not provided
not specified
Retinitis pigmentosa 88

Criteria Provided
Conflicting Classifications

CA10629800

rs_4240659

8 SubmittersRCV000315863 RCV001355893 RCV001528387 RCV001796009

NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)

SNV
Germline

Chr8:43140604

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Condition: not provided
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
not specified
HGSNAT-related disorder

Criteria Provided
Conflicting Classifications

CA10631133

rs_886062952

7 SubmittersRCV000273849 RCV000675862 RCV001083544 RCV001699401 RCV003932503

NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser)

SNV
Germline

Chr8:43158617

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Conflicting Classifications

CA4736466

rs_368452647

2 SubmittersRCV000316013 RCV002058735

NM_152419.3(HGSNAT):c.371+15T>A

SNV
Germline

Chr8:43158726

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

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
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Intellectual disability
Seizure
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4736446

rs_202001245

5 SubmittersRCV000355499 RCV000887168 RCV001256068 RCV003889870

NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)

SNV
Germline

Chr8:43158682

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4736487

rs_184883937

5 SubmittersRCV000372738 RCV000675863 RCV001083633 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
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4751902

rs_150524359

3 SubmittersRCV000318287 RCV000964485 RCV003889873

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
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4815138

rs_35141355

5 SubmittersRCV000327534 RCV000384966 RCV001509849 RCV003889874

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

Cone-rod dystrophy 16
not specified
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4815118

rs_143748636

5 SubmittersRCV000625262 RCV001701000 RCV000323905 RCV000954269

NM_005802.5(TOPORS):c.2347G>C (p.Gly783Arg)

SNV
Germline

Chr9:32542178

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5020385

rs_148620735

3 SubmittersRCV000340814 RCV002523788 RCV002058797

NM_152443.3(RDH12):c.570C>T (p.Ser190=)

SNV
Germline

Chr14:67727102

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 13
Retinitis pigmentosa
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7238750

rs_79869437

4 SubmittersRCV000346851 RCV000951682 RCV001109349 RCV001275433 RCV003888728

NM_152443.3(RDH12):c.701G>A (p.Arg234His)

SNV
Germline

Chr14:67729233

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7238798

rs_750636662

9 SubmittersRCV000342637 RCV001243727 RCV000993746 RCV001753776 RCV001833459 RCV003324525

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
Autosomal dominant vitreoretinochoroidopathy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6040956

rs_144231113

2 SubmittersRCV000297886 RCV000392100 RCV000361992 RCV001500896

NM_017791.3(FLVCR2):c.953-15C>T

SNV
Germline

Chr14:75633614

Conflicting classifications of pathogenicity

Condition: not provided
Posterior column ataxia-retinitis pigmentosa syndrome

Criteria Provided
Conflicting Classifications

CA7278390

rs_188707531

2 SubmittersRCV003765829 RCV000406478

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

3 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
TTC8-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7302781

rs_199649536

5 SubmittersRCV000300734 RCV000353073 RCV001094375 RCV001820932 RCV003969880 RCV003888732

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
Condition: not provided
Retinitis pigmentosa 37
Enhanced S-cone syndrome
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7640273

rs_558123422

4 SubmittersRCV000274461 RCV000331700 RCV000944344 RCV000673033 RCV001121702

NM_014249.4(NR2E3):c.410C>T (p.Ser137Phe)

SNV
Germline

Chr15:71812015

Conflicting classifications of pathogenicity

Enhanced S-cone syndrome
Retinitis Pigmentosa, Recessive
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7640308

rs_767828150

3 SubmittersRCV000297664 RCV000369444 RCV001119821 RCV001069768 RCV003888733

NM_014249.4(NR2E3):c.572-13C>T

SNV
Germline

Chr15:71812323

Conflicting classifications of pathogenicity

Enhanced S-cone syndrome
Retinitis Pigmentosa, Recessive
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7640352

rs_376114936

2 SubmittersRCV000281903 RCV000334655 RCV001850676 RCV001118389

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
Retinitis pigmentosa
Condition: not provided
Goldmann-Favre syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7640426

rs_184906734

5 SubmittersRCV000312701 RCV000365213 RCV000594181 RCV001121908 RCV000891564 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

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

Criteria Provided
Conflicting Classifications

CA7722142

rs_144615495

4 SubmittersRCV000307440 RCV000365727 RCV000401519 RCV000898905

NM_000326.5(RLBP1):c.795+15C>T

SNV
Germline

Chr15:89210684

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7722190

rs_181863443

4 SubmittersRCV000284563 RCV000346536 RCV000394745 RCV001000612 RCV001509871

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
not specified
Cone-rod dystrophy 15
Retinal dystrophy
Retinitis pigmentosa
Macular dystrophy, retinal, 5
Retinitis pigmentosa 65

Criteria Provided
Conflicting Classifications

CA5579673

rs_147346345

17 SubmittersRCV000369498 RCV000487554 RCV000825304 RCV000625429 RCV000787811 RCV001723886 RCV003221896 RCV003221895

NM_014714.4(IFT140):c.22C>G (p.Gln8Glu)

SNV
Germline

Chr16:1607245

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814853

rs_145267929

4 SubmittersRCV000407664 RCV001073365 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

7 SubmittersRCV000286126 RCV001052203 RCV000504683 RCV000672125 RCV003278764

NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys)

SNV
Germline

Chr16:57884336

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 45
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8082497

rs_201186180

5 SubmittersRCV000307175 RCV001000412 RCV001519711 RCV001699364

NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr)

SNV
Germline

Chr16:57887896

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8082571

rs_201449358

4 SubmittersRCV000376862 RCV001092933 RCV003888751

NM_001297.5(CNGB1):c.3309G>A (p.Ala1103=)

SNV
Germline

Chr16:57888008

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA8082599

rs_201319323

3 SubmittersRCV000278783 RCV002056503 RCV003920354

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

4 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

Retinitis pigmentosa
Retinitis pigmentosa 45
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083851

rs_185727761

6 SubmittersRCV000407586 RCV000625380 RCV000591254 RCV001512416

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

Criteria Provided
Conflicting Classifications

CA8272227

rs_200389505

4 SubmittersRCV000276040 RCV001046592 RCV004021691

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.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 13
Retinitis pigmentosa
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7238787

rs_769317754

4 SubmittersRCV000302468 RCV000955105 RCV001111665 RCV001275436 RCV002520913

NM_018418.5(SPATA7):c.387G>A (p.Pro129=)

SNV
Germline

Chr14:88426246

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 3

Criteria Provided
Conflicting Classifications

CA7298529

rs_199727517

2 SubmittersRCV000389308 RCV000952248

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

Enhanced S-cone syndrome
Retinitis Pigmentosa, Recessive
Condition: not provided
Retinitis pigmentosa
Goldmann-Favre syndrome

Criteria Provided
Conflicting Classifications

CA7640252

rs_538864090

3 SubmittersRCV000333078 RCV000389820 RCV000900838 RCV001119730 RCV001275373

NM_014249.4(NR2E3):c.444T>C (p.Ala148=)

SNV
Germline

Chr15:71812049

Conflicting classifications of pathogenicity

Enhanced S-cone syndrome
Retinitis Pigmentosa, Recessive
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7640311

rs_533192044

2 SubmittersRCV000271119 RCV000368328 RCV001121809 RCV001449310

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
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Inborn genetic diseases
Retinitis pigmentosa
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712084

rs_139998038

10 SubmittersRCV000276434 RCV000289191 RCV000333827 RCV000327895 RCV000381363 RCV000557002 RCV001074452 RCV001555535 RCV001273076 RCV002520840 RCV001590930 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
Inborn genetic diseases
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7813040

rs_571556177

4 SubmittersRCV000278956 RCV003165856 RCV002487400

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
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Conflicting Classifications

CA10643083

rs_189556251

1 SubmittersRCV000307672 RCV000361147 RCV000401185

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
Inborn genetic diseases
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814576

rs_369671309

4 SubmittersRCV000405837 RCV003243074 RCV002494998

NM_014714.4(IFT140):c.685G>A (p.Ala229Thr)

SNV
Germline

Chr16:1589730

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Inborn genetic diseases
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814606

rs_555382397

4 SubmittersRCV000301773 RCV002522825 RCV002494999

NM_013342.4(TFPT):c.-350G>T

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
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Retinitis pigmentosa
Leber congenital amaurosis
not specified
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712768

rs_200063017

7 SubmittersRCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000637006 RCV000787814 RCV001275046 RCV003330639 RCV003888725 RCV004537752

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_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

Criteria Provided
Conflicting Classifications

CA8082801

rs_563734833

2 SubmittersRCV000301994 RCV001511923

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
Retinitis pigmentosa 45
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8083178

rs_181974243

3 SubmittersRCV000405494 RCV001000732 RCV001451609

NM_001297.5(CNGB1):c.1435C>A (p.Leu479Ile)

SNV
Germline

Chr16:57931816

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA8083430

rs_2303783

4 SubmittersRCV000300738 RCV001522874 RCV003888757 RCV003969905

NM_001297.5(CNGB1):c.1275C>G (p.Ala425=)

SNV
Germline

Chr16:57939527

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8083486

rs_376016716

4 SubmittersRCV000313594 RCV001517349 RCV001700058

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
Retinitis pigmentosa 45
Condition: not provided
Inborn genetic diseases
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA8083935

rs_201407276

6 SubmittersRCV000309330 RCV001000923 RCV001430950 RCV002522881 RCV003910216

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8272407

rs_142411659

3 SubmittersRCV000282758 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
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8685274

rs_185476073

7 SubmittersRCV000398754 RCV000507639 RCV001795944 RCV003888772

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
Bardet-Biedl syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7302304

rs_199571677

3 SubmittersRCV000304181 RCV000360976 RCV001859883 RCV003888731

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
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7640289

rs_112520386

5 SubmittersRCV000303540 RCV000399136 RCV000887757 RCV001118292

NM_014249.4(NR2E3):c.455C>T (p.Pro152Leu)

SNV
Germline

Chr15:71812060

Conflicting classifications of pathogenicity

Enhanced S-cone syndrome
Retinitis Pigmentosa, Recessive
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7640315

rs_371853056

3 SubmittersRCV000328481 RCV000362162 RCV001121810 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
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7722327

rs_143817941

5 SubmittersRCV000290055 RCV000328618 RCV000381007 RCV000906178 RCV001726111 RCV003888736

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.867C>G (p.Ser289Arg)

SNV
Germline

Chr16:1587968

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Inborn genetic diseases
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

CA7814525

rs_145858131

4 SubmittersRCV000281495 RCV003165857 RCV002487403

NM_014714.4(IFT140):c.298C>G (p.Leu100Val)

SNV
Germline

Chr16:1602441

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

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

Criteria Provided
Conflicting Classifications

CA8065597

rs_200021475

5 SubmittersRCV000326249 RCV001094468 RCV002487413

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

Criteria Provided
Conflicting Classifications

CA7812764

rs_201065562

4 SubmittersRCV000334851 RCV002494994 RCV002520984

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

Criteria Provided
Conflicting Classifications

CA8083305

rs_770735553

2 SubmittersRCV000334121 RCV002061206

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
Condition: not provided
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA8082658

rs_200581517

4 SubmittersRCV000374100 RCV000960074 RCV003920355

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
Retinitis pigmentosa 45
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8082855

rs_72782250

4 SubmittersRCV000324085 RCV001001677 RCV000955137

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
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA9544368

rs_139340178

6 SubmittersRCV000280624 RCV000401704 RCV000878021 RCV001087610 RCV000787830

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
Condition: not provided
IDH3B-related disorder

Criteria Provided
Conflicting Classifications

CA9735135

rs_202127751

3 SubmittersRCV000318929 RCV002057730 RCV003932348

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_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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8272663

rs_373157040

3 SubmittersRCV000397001 RCV002061216 RCV002522915

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

Congenital stationary night blindness 1E
Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10650013

rs_200936863

8 SubmittersRCV000625275 RCV000787911 RCV000730168 RCV001706517

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

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
CA4-related disorder

Criteria Provided
Conflicting Classifications

CA8685357

rs_185658468

5 SubmittersRCV000366585 RCV000757049 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
Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA10650670

rs_145706166

1 SubmittersRCV000280028 RCV000351354 RCV000372318

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
Leber congenital amaurosis 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8328414

rs_138585919

4 SubmittersRCV000332251 RCV000385713 RCV001075005 RCV000981801 RCV003456394

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
Retinitis pigmentosa
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

CA10652624

rs_543729483

1 SubmittersRCV000293631 RCV000348576 RCV000401350

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

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309326222

rs_370512426

2 SubmittersRCV000342676 RCV002057529

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.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
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA9972337

rs_151332876

3 SubmittersRCV000381203 RCV000914708 RCV003888815

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
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA8082767

rs_749199721

5 SubmittersRCV000408898 RCV000513315 RCV001199469

NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)

SNV
Germline

Chr3:150928016

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2666003

rs_373208120

5 SubmittersRCV000408993 RCV001065581 RCV001273480 RCV002502431 RCV003470355

NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)

SNV
Germline

Chr11:66515586

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 1
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Bardet-Biedl syndrome
BBS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6123351

rs_376894444

15 SubmittersRCV000411434 RCV000504813 RCV001074216 RCV001092069 RCV001387773 RCV003922662

NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)

SNV
Germline

Chr16:56501014

Pathogenic/Likely pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1396771

rs_374536346

10 SubmittersRCV000414183 RCV000673542 RCV001075754 RCV000678652 RCV001828379

NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)

SNV
Germline

Chr1:197427831

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Leber congenital amaurosis 1
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Conflicting Classifications

CA1312130

rs_116471343

9 SubmittersRCV000414087 RCV001073689 RCV000986491 RCV001376383 RCV001064315 RCV001810876 RCV003475999 RCV003137989

NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter)

SNV
Germline

Chr1:94060709

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA16042332

rs_865990202

5 SubmittersRCV000414150 RCV001353030

NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp)

SNV
Germline

Chr1:197477719

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 8
Retinitis pigmentosa 12
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

Criteria Provided
Multiple Submitters
No Conflicts

CA16042375

rs_1057517700

4 SubmittersRCV000414682 RCV002272222

NM_000188.3(HK1):c.1370C>T (p.Thr457Met)

SNV
Germline

Chr10:69382591

Conflicting classifications of pathogenicity

Condition: not provided
Hemolytic anemia due to hexokinase deficiency
Charcot-Marie-Tooth disease type 4G
Retinitis pigmentosa 79
Inborn genetic diseases
Neurodevelopmental disorder with visual defects and brain anomalies

Criteria Provided
Conflicting Classifications

CA16042708

rs_1057517928

9 SubmittersRCV000413860 RCV000763213 RCV001266327 RCV000850129

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
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16043370

rs_1057518922

3 SubmittersRCV000415360 RCV001066256 RCV001198362 RCV003470368

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

3 SubmittersRCV000414787 RCV001196627 RCV003401407

NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter)

SNV
Germline

Chr8:43192413

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Multiple Submitters
No Conflicts

CA16043726

rs_1057518644

3 SubmittersRCV000415469 RCV002521465

NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)

SNV
Germline

Chr1:68446825

Pathogenic

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

Reviewed By Expert Panel

CA902588

rs_368088025

10 SubmittersRCV000416243 RCV000528380 RCV001275339 RCV001249416 RCV000787883 RCV002466496 RCV003889879 RCV003470371

NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)

SNV
Germline

Chr1:215970699

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1395009

rs_768253909

7 SubmittersRCV000416248 RCV000602087 RCV001271992 RCV003330661 RCV003389472 RCV002488860

NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)

SNV
Germline

Chr1:215759786

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043841

rs_1057519193

7 SubmittersRCV000416074 RCV001074930 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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1312198

rs_140648074

6 SubmittersRCV000415891 RCV001270085 RCV001242512 RCV001563885 RCV001563884 RCV001828390 RCV002521478

NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)

SNV
Germline

Chr1:94108649

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
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
Retinal dystrophy
Posterior column ataxia-retinitis pigmentosa syndrome
FLVCR1-related disorder
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA1386046

rs_556788423

13 SubmittersRCV000415829 RCV001075766 RCV000986509 RCV003418102 RCV003324526

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_012418.4(FSCN2):c.829G>A (p.Val277Ile)

SNV
Germline

Chr17:81535054

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 30
not specified

Criteria Provided
Conflicting Classifications

CA8836893

rs_181420326

5 SubmittersRCV000423345 RCV000764149 RCV004022273

NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)

SNV
Germline

Chr1:215680159

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1393508

rs_759898765

8 SubmittersRCV000435312 RCV001073281 RCV001271125 RCV003449048

NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)

SNV
Germline

Chr1:216324269

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603533

rs_397517979

11 SubmittersRCV000438959 RCV000667167 RCV000589870 RCV001833524

NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)

SNV
Germline

Chr1:215970645

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome
Cone-rod dystrophy 3
USH2A-related disorder
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394996

rs_199840367

14 SubmittersRCV000432643 RCV001003268 RCV001074794 RCV001095706 RCV002271497 RCV002272234 RCV004533027 RCV003992295

NM_000350.3(ABCA4):c.5898+1G>A

SNV
Germline

Chr1:94008234

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA16603700

rs_61750638

4 SubmittersRCV000438611 RCV001075185 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.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
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA957222

rs_371489809

5 SubmittersRCV000421632 RCV002289547 RCV003224874 RCV002480281

NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)

SNV
Germline

Chr1:94077713

Conflicting classifications of pathogenicity

Condition: not provided
ABCA4-related disorder
Retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

CA958502

rs_752786160

7 SubmittersRCV000429156 RCV000779006 RCV001074731 RCV002272229 RCV002250625

NM_015662.3(IFT172):c.1525-6C>G

SNV
Germline

Chr2:27471101

Conflicting classifications of pathogenicity

not specified
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

Criteria Provided
Conflicting Classifications

CA1580594

rs_201231401

5 SubmittersRCV000433325 RCV000877807 RCV001727724 RCV002506060

NM_015662.3(IFT172):c.1036C>T (p.Arg346Ter)

SNV
Germline

Chr2:27478126

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

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

Criteria Provided
Conflicting Classifications

CA2010938

rs_141389059

4 SubmittersRCV000419430 RCV001138252 RCV001271350

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

7 SubmittersRCV000424122 RCV001143262 RCV003902595 RCV003889890

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
Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2866836

rs_140682455

3 SubmittersRCV000431346 RCV001147773 RCV001151114 RCV001147772 RCV001147774

NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)

SNV
Germline

Chr4:660579

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2794577

rs_760766981

8 SubmittersRCV000504854 RCV000427120 RCV000845026 RCV001154208

NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr)

SNV
Germline

Chr11:61959997

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6040973

rs_147409760

7 SubmittersRCV001060186 RCV001105325 RCV001106450 RCV001105324 RCV002466499 RCV003889889

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

8 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

Criteria Provided
Conflicting Classifications

CA1831830

rs_141361084

6 SubmittersRCV000454548 RCV000727047 RCV001331567

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
Condition: not provided
X-linked cone-rod dystrophy 1
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Retinitis pigmentosa 3
Macular degeneration, X-linked atrophic

Criteria Provided
Conflicting Classifications

CA10385420

rs_768169831

4 SubmittersRCV000468234 RCV003128244 RCV002496810

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

Retinitis pigmentosa 64

No Assertion Criteria Provided

CA16616877

rs_1060505042

1 SubmittersRCV000477709

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

Cone-rod dystrophy
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 4
Retinal dystrophy
Congenital stationary night blindness autosomal dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16616904

rs_104893793

5 SubmittersRCV000787681 RCV000787680 RCV001229601 RCV001265187 RCV003889904 RCV000477900

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
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394674

rs_200712760

6 SubmittersRCV000485043 RCV000984316 RCV000984317

NM_206933.4(USH2A):c.7595-2A>G

SNV
Germline

Chr1:215889056

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16617057

rs_1064795047

4 SubmittersRCV000486199 RCV003446078 RCV003464018

NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter)

SNV
Germline

Chr1:216199931

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16617060

rs_1064793745

4 SubmittersRCV000485380 RCV000674309 RCV003449188 RCV003449187

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

Reviewed By Expert Panel

CA1396311

rs_137954284

10 SubmittersRCV000480360 RCV000504759 RCV001074179 RCV003463976

NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)

SNV
Germline

Chr1:46192174

Conflicting classifications of pathogenicity

Condition: not provided
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
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

Criteria Provided
Conflicting Classifications

CA833361

rs_766382416

4 SubmittersRCV000479982 RCV000984206 RCV000984207 RCV000984209 RCV000984208 RCV001368114 RCV002525910

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_201548.5(CERKL):c.1127A>C (p.Gln376Pro)

SNV
Germline

Chr2:181548551

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 26
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2010566

rs_746220721

4 SubmittersRCV000483805 RCV001828508 RCV003889907

NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)

SNV
Germline

Chr4:127920826

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Retinal dystrophy
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA3077232

rs_559155109

7 SubmittersRCV000480079 RCV000505013 RCV000504782 RCV000505174 RCV000805545 RCV001542748 RCV001805096 RCV002313243

NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)

SNV
Germline

Chr4:15601291

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
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

Criteria Provided
Conflicting Classifications

CA3504419

rs_148598583

3 SubmittersRCV000485029 RCV001156327

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

Criteria Provided
Conflicting Classifications

CA3876904

rs_368458853

3 SubmittersRCV000484804 RCV001272974

NM_001142800.2(EYS):c.2137+1G>A

SNV
Germline

Chr6:65057613

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3877324

rs_199740930

18 SubmittersRCV000484533 RCV000763559 RCV000779518 RCV003392308

NM_001142800.2(EYS):c.1274G>A (p.Cys425Tyr)

SNV
Germline

Chr6:65384411

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA16618300

rs_1064796021

3 SubmittersRCV000486623 RCV001376364

NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala)

SNV
Germline

Chr8:10608966

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4623757

rs_200635063

3 SubmittersRCV000482552 RCV003889908 RCV002496876

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
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
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
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Intellectual disability
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4737042

rs_192857413

6 SubmittersRCV000478941 RCV000625332 RCV000802522 RCV001252520 RCV002271509 RCV002526563

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
Inborn genetic diseases
Retinitis pigmentosa 79
Retinitis pigmentosa
Hemolytic anemia due to hexokinase deficiency
Autism spectrum disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16618972

rs_1064794848

14 SubmittersRCV000483739 RCV000850128 RCV001266687 RCV001254702 RCV001270352 RCV001770372 RCV003126749

NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)

SNV
Germline

Chr16:28477620

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis
Retinal dystrophy
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

CA7980640

rs_139842473

14 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

Criteria Provided
Conflicting Classifications

CA10394159

rs_782344765

4 SubmittersRCV000479201 RCV002470866

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5532875

rs_777849213

9 SubmittersRCV000487470 RCV001064496 RCV001075827 RCV004584389

NM_020843.4(SCAPER):c.2023-2A>G

SNV
Germline

Chr15:76728739

Pathogenic

Intellectual developmental disorder and retinitis pigmentosa
IDDRP
Retinitis pigmentosa
Syndromic retinitis pigmentosa

No Assertion Criteria Provided

CA393634888

rs_1555558169

4 SubmittersRCV000722053 RCV000578475 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_201253.3(CRB1):c.481G>A (p.Ala161Thr)

SNV
Germline

Chr1:197328832

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
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
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA16621590

rs_1064797134

6 SubmittersRCV000488256 RCV000667007 RCV001834579 RCV003449252

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_001297.5(CNGB1):c.2794+1G>A

SNV
Germline

Chr16:57903821

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

CA8082831

rs_770011113

6 SubmittersRCV000487966 RCV001074635 RCV001199466 RCV001725185

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
Retinitis pigmentosa 41
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Stargardt disease 4
Cone-rod dystrophy
Cone-rod dystrophy 12
Retinitis pigmentosa 41

Criteria Provided
Conflicting Classifications

CA2866577

rs_761911901

8 SubmittersRCV000487979 RCV000765764 RCV001199723 RCV003236583 RCV003338612

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

4 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
EYS-related disorder
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3876985

rs_188093810

10 SubmittersRCV000488090 RCV001073586 RCV001161045 RCV003932793 RCV003144285

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

Criteria Provided
Conflicting Classifications

CA4623490

rs_200846354

5 SubmittersRCV000487849 RCV000988031 RCV001257841

NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro)

SNV
Germline

ChrX:38321038

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA16621889

rs_1064797366

4 SubmittersRCV000487612 RCV001075427 RCV001199550

NM_005869.4(CWC27):c.495G>A (p.Glu165=)

SNV
Germline

Chr5:64785579

Pathogenic

Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA444474629

rs_1085307446

2 SubmittersRCV000488877 RCV002527018

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344037829

rs_1085307972

4 SubmittersRCV000488946 RCV001834593 RCV003449262 RCV001851320 RCV003449263

NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)

SNV
Germline

Chr1:94021385

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA341283189

rs_1085307968

3 SubmittersRCV000489654 RCV001353028

NM_003322.6(TULP1):c.1063G>A (p.Asp355Asn)

SNV
Germline

Chr6:35505790

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA363779723

rs_1085307806

3 SubmittersRCV000489746 RCV001249894

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

Criteria Provided
Conflicting Classifications

CA4736988

rs_377050184

2 SubmittersRCV000489607 RCV001359580

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 1
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344041407

rs_62645747

7 SubmittersRCV000515691 RCV000986493 RCV001250609 RCV001389640 RCV001836643 RCV003987563 RCV003449270

NM_206933.4(USH2A):c.11389+3A>T

SNV
Germline

Chr1:215758592

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1393757

rs_753886165

7 SubmittersRCV000515699 RCV001074399 RCV001376314 RCV001386131

NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)

SNV
Germline

Chr1:68431282

Pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
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
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA418279061

rs_1553152989

6 SubmittersRCV000515747 RCV001865522 RCV002248718 RCV004527377

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
Retinitis pigmentosa 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA516252066

rs_1556313552

3 SubmittersRCV000515686 RCV000990803 RCV001051097

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
Condition: not provided
Retinal dystrophy with or without macular staphyloma
CFAP410-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10053758

rs_140451304

10 SubmittersRCV000492059 RCV000504995 RCV000504803 RCV001075775 RCV001091473 RCV001376208 RCV003409679

NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter)

SNV
Germline

Chr1:215782098

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1393958

rs_749702843

5 SubmittersRCV000494028 RCV003449387 RCV003464064

NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)

SNV
Germline

Chr14:88872358

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome
Retinitis pigmentosa
TTC8-related disorder

Criteria Provided
Conflicting Classifications

CA7302697

rs_142938748

7 SubmittersRCV000502817 RCV000514165 RCV001117717 RCV001085151 RCV001117716 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

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
CRB1-related disorder
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA35893184

rs_369775002

5 SubmittersRCV000505025 RCV001074835 RCV001390794 RCV004527614 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1312059

rs_145282040

7 SubmittersRCV000504865 RCV001053730 RCV001275649 RCV001783005 RCV003449433 RCV003449434 RCV003449435

NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)

SNV
Germline

Chr1:197427964

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA35901203

rs_910489135

5 SubmittersRCV000504944 RCV001376401 RCV001067848 RCV001834627 RCV003476198

NM_201253.3(CRB1):c.2842+5G>A

SNV
Germline

Chr1:197429619

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 8
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1312221

rs_773914330

6 SubmittersRCV000504958 RCV001250645 RCV001310547 RCV001857211 RCV003446102

NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)

SNV
Germline

Chr1:197435539

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1312374

rs_757740068

6 SubmittersRCV000504976 RCV001064730 RCV001275659 RCV003449440 RCV003228798 RCV003449439

NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)

SNV
Germline

Chr1:215648684

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1393021

rs_770553471

7 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
Retinal dystrophy
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA37412317

rs_1003869920

10 SubmittersRCV000504721 RCV000598833 RCV000670712 RCV001074297 RCV001829437

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
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393320

rs_201238640

8 SubmittersRCV000504678 RCV000733677 RCV001358731 RCV003470634

NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)

SNV
Germline

Chr1:215674957

Pathogenic

Usher syndrome
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344848080

rs_762159022

6 SubmittersRCV000504779 RCV001542725 RCV001380977

NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)

SNV
Germline

Chr1:215675092

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344848937

rs_1362058696

5 SubmittersRCV000505020 RCV000670212 RCV003449422 RCV001865635 RCV003449423

NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter)

SNV
Germline

Chr1:215741386

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA344833144

rs_1553257498

2 SubmittersRCV000504698 RCV001857206

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
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344844828

rs_1288381992

4 SubmittersRCV000505042 RCV000670590 RCV001062508 RCV003449432 RCV003449431

NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)

SNV
Germline

Chr1:215798907

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344848146

rs_1285853856

6 SubmittersRCV000504889 RCV001376751 RCV001376218 RCV001834625

NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)

SNV
Germline

Chr1:215798983

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1394189

rs_749228276

8 SubmittersRCV000504661 RCV000593818 RCV001075611 RCV001376250 RCV001810454

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
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

CA1394268

rs_751111524

9 SubmittersRCV000505005 RCV000670550 RCV001057476 RCV001075684 RCV001829438 RCV002231177 RCV003446101

NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala)

SNV
Germline

Chr1:215879038

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344832484

rs_1188281491

3 SubmittersRCV000504749 RCV001376219 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
Retinitis pigmentosa 39
Usher syndrome type 2A
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

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

Criteria Provided
Single Submitter

CA344854897

rs_1553298240

3 SubmittersRCV000504716 RCV000669452 RCV001389284

NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)

SNV
Germline

Chr1:216196582

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1395785

rs_746551311

15 SubmittersRCV000504899 RCV000627213 RCV001002566 RCV000666545 RCV001073573 RCV001276258 RCV003449425 RCV003389475

NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)

SNV
Germline

Chr1:216325393

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1396612

rs_780308389

10 SubmittersRCV000504656 RCV000665487 RCV000804683 RCV000824796 RCV001075415 RCV001836644 RCV001834622

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1396855

rs_772808534

9 SubmittersRCV000504668 RCV000673031 RCV001376313 RCV001039961 RCV001273815 RCV003479142

NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)

SNV
Germline

Chr1:68448644

Pathogenic

Retinal dystrophy
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
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

9 SubmittersRCV000504723 RCV001250673 RCV001377674 RCV001834621 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

11 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

3 SubmittersRCV000504637 RCV001075246 RCV003558423

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
Condition: not provided
Retinitis pigmentosa 38

Criteria Provided
Multiple Submitters
No Conflicts

CA1831727

rs_541717028

6 SubmittersRCV000504691 RCV001074082 RCV001049512 RCV002289688

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

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 26
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2010866

rs_569826109

8 SubmittersRCV000504821 RCV001071725 RCV001277034 RCV003226314

NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)

SNV
Germline

Chr2:29071260

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 54
See cases
PCARE-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1592053

rs_367658438

11 SubmittersRCV000504713 RCV000627266 RCV001074819 RCV001352960 RCV001197047 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

Criteria Provided
Single Submitter

CA354495583

rs_1553780837

2 SubmittersRCV000505117 RCV001296378

NM_000539.3(RHO):c.509C>G (p.Pro170Arg)

SNV
Germline

Chr3:129531023

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354498718

rs_1553781176

5 SubmittersRCV000505129 RCV000987330 RCV001381860

NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr)

SNV
Germline

Chr3:97784981

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Single Submitter

CA2505920

rs_771054395

2 SubmittersRCV000504758 RCV001376735

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.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

3 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

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA2794340

rs_370898371

9 SubmittersRCV000504844 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

Criteria Provided
Multiple Submitters
No Conflicts

CA3504453

rs_753942596

9 SubmittersRCV000504732 RCV000622936 RCV000627204

NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp)

SNV
Germline

Chr5:149895281

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3504607

rs_144484128

4 SubmittersRCV000505062 RCV001075345 RCV001229513

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

8 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
Single Submitter

CA364135451

rs_1554269053

3 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

4 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
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3876911

rs_777735735

5 SubmittersRCV000505095 RCV001219169 RCV001834630

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

14 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

Criteria Provided
Multiple Submitters
No Conflicts

CA140340976

rs_930421180

9 SubmittersRCV000504982 RCV001040519 RCV001731733

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

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

CA140380268

rs_760798455

7 SubmittersRCV000504898 RCV001073598 RCV001035568 RCV001376424

NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)

SNV
Germline

Chr6:65405253

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
not specified
EYS-related disorder

Criteria Provided
Conflicting Classifications

CA3877908

rs_112822256

13 SubmittersRCV000504943 RCV000513566 RCV000625446 RCV001074080 RCV001277019 RCV001700135 RCV003915401

NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala)

SNV
Germline

Chr7:23125152

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366975744

rs_1554286384

3 SubmittersRCV000505171 RCV001054300

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

5 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.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

8 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
Retinitis pigmentosa
Enhanced S-cone syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7640401

rs_377257254

8 SubmittersRCV000504973 RCV000809974 RCV001376214 RCV001449815 RCV001724033 RCV003464084

NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr)

SNV
Germline

Chr16:1587209

Pathogenic

Retinitis pigmentosa
Saldino-Mainzer syndrome

Criteria Provided
Single Submitter

CA7814480

rs_773372123

2 SubmittersRCV000504730 RCV001002703

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
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA396063476

rs_1352458826

4 SubmittersRCV000504700 RCV001073841 RCV001384477

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

8 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
Condition: not provided
Retinitis pigmentosa 13
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA397562024

rs_752997229

7 SubmittersRCV000504770 RCV001257799 RCV001231748 RCV001542603 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

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
X-linked retinitis pigmentosa
Retinitis pigmentosa 2

Criteria Provided
Multiple Submitters
No Conflicts

CA413039367

rs_1556318633

8 SubmittersRCV000504762 RCV001003184 RCV001091011 RCV001257800 RCV002283485

NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)

SNV
Germline

Chr1:215674550

Conflicting classifications of pathogenicity

not specified
Childhood onset hearing loss
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393303

rs_148033154

8 SubmittersRCV000507584 RCV001328024 RCV001074764 RCV001425706 RCV001374885

NM_201253.3(CRB1):c.1914G>T (p.Ser638=)

SNV
Germline

Chr1:197421742

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA422808630

rs_780682072

2 SubmittersRCV000512803 RCV001482580

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344858879

rs_1461319754

8 SubmittersRCV000513450 RCV000672338 RCV001375184 RCV001073947 RCV003449460 RCV003449461

NM_024649.5(BBS1):c.952G>A (p.Gly318Arg)

SNV
Germline

Chr11:66523724

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 1
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

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

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA361698740

rs_1554090012

3 SubmittersRCV000513022 RCV001199500

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
Retinitis pigmentosa 25
Autosomal recessive retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA3876667

rs_772888249

10 SubmittersRCV000513040 RCV001162434 RCV001376277 RCV001271835 RCV002248747

NM_001142800.2(EYS):c.7796A>G (p.His2599Arg)

SNV
Germline

Chr6:63778108

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

CA3876776

rs_74636274

8 SubmittersRCV000513506 RCV001159547 RCV001285867

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

4 SubmittersRCV000515461 RCV002527440

NM_014285.7(EXOSC2):c.593G>A (p.Gly198Asp)

SNV
Germline

Chr9:130702231

Pathogenic

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

No Assertion Criteria Provided

CA375247996

rs_756204866

1 SubmittersRCV000515462

NM_014714.4(IFT140):c.4196T>C (p.Leu1399Pro)

SNV
Germline

Chr16:1511137

Pathogenic

Retinitis pigmentosa 80

No Assertion Criteria Provided

CA7812832

rs_559371453

1 SubmittersRCV000515594

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7814278

rs_758052634

6 SubmittersRCV000515606 RCV001073305 RCV001857877 RCV002282196 RCV002490876 RCV003326447

NM_205861.3(DHDDS):c.110G>A (p.Arg37His)

SNV
Germline

Chr1:26438214

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA339138678

rs_1553121073

8 SubmittersRCV000519248 RCV000578122 RCV001858011

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

Criteria Provided
Conflicting Classifications

CA1579519

rs_141098495

6 SubmittersRCV000520966 RCV001239376 RCV002476063 RCV003483653 RCV004553147

NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)

SNV
Germline

Chr2:27457879

Conflicting classifications of pathogenicity

Condition: not provided
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

CA1580090

rs_61747068

5 SubmittersRCV000523121 RCV001089402 RCV002467857 RCV004553148

NM_001031710.3(KLHL7):c.793+5G>C

SNV
Germline

Chr7:23144030

Conflicting classifications of pathogenicity

not specified
Condition: not provided
PERCHING syndrome
Retinitis pigmentosa 42

Criteria Provided
Conflicting Classifications

CA4186478

rs_375718274

5 SubmittersRCV000523837 RCV001057631 RCV002274055 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
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4736463

rs_374287774

4 SubmittersRCV000522887 RCV001829521 RCV002525229 RCV003889920

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

Retinitis pigmentosa 20
Leber congenital amaurosis 2
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

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

Criteria Provided
Conflicting Classifications

CA1580198

rs_142409945

6 SubmittersRCV000542399 RCV000624406 RCV001336304 RCV001573188 RCV004553245

NM_025114.4(CEP290):c.180+1G>A

SNV
Germline

Chr12:88140955

Pathogenic/Likely pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Retinitis pigmentosa
Condition: not provided
Meckel syndrome, type 4
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA6712897

rs_758593134

7 SubmittersRCV000542843 RCV000787558 RCV001199655 RCV001091342 RCV002289749 RCV002497107

NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln)

SNV
Germline

Chr1:26457880

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA339144815

rs_1553122926

9 SubmittersRCV000578123 RCV001853833 RCV001172209

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
Retinitis pigmentosa
Usher syndrome type 2A
Leber congenital amaurosis
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1395583

rs_754768875

9 SubmittersRCV000578898 RCV000787731 RCV000670513 RCV000787898 RCV003465286 RCV003889925

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
Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA276675316

rs_1002670900

4 SubmittersRCV000578612 RCV001075043 RCV002506390 RCV001230423

NM_001297.5(CNGB1):c.315G>A (p.Trp105Ter)

SNV
Germline

Chr16:57963040

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA396079763

rs_1420628245

3 SubmittersRCV000578720 RCV001199468

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
not specified
Retinitis pigmentosa
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

CA8083661

rs_375539469

7 SubmittersRCV000584837 RCV000625379 RCV001706680 RCV001118433 RCV003945371

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
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

CA354497998

rs_1553781140

3 SubmittersRCV000585361 RCV001265185

NM_001134831.2(AHI1):c.2988+6T>C

SNV
Germline

Chr6:135404945

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA4012199

rs_751303913

2 SubmittersRCV000585422 RCV001199637

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

4 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
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344828778

rs_1369414978

5 SubmittersRCV000586218 RCV001073311 RCV001853963

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
BBS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8065521

rs_567573386

9 SubmittersRCV000590291 RCV000622316 RCV000667111 RCV001376258 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
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
not specified

Criteria Provided
Conflicting Classifications

CA957869

rs_146786552

10 SubmittersRCV000597651 RCV001195780 RCV001101855 RCV002267738 RCV002289889 RCV002497243 RCV003235303

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

14 SubmittersRCV000592080 RCV000599059 RCV001074303 RCV001271237 RCV001376324 RCV001814193 RCV002506407

NM_002900.3(RBP3):c.126G>A (p.Pro42=)

SNV
Germline

Chr10:47348610

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA5487858

rs_146175391

3 SubmittersRCV000594582 RCV001106854

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_002900.3(RBP3):c.843C>T (p.Pro281=)

SNV
Germline

Chr10:47349327

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA5487678

rs_35186791

7 SubmittersRCV000594133 RCV000888334 RCV003889929 RCV001106850

NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp)

SNV
Germline

Chr2:29074177

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1592724

rs_201706430

4 SubmittersRCV000593474 RCV003889930 RCV001143465

NM_000322.5(PRPH2):c.888C>T (p.Pro296=)

SNV
Germline

Chr6:42698448

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3808492

rs_183714869

3 SubmittersRCV000594269 RCV001161266 RCV001161267 RCV001161269 RCV001161268 RCV001161270 RCV001161265 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

Criteria Provided
Conflicting Classifications

CA7722406

rs_775252439

4 SubmittersRCV000596579 RCV002250668 RCV002282255

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 RCV001224336 RCV002497267

NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=)

SNV
Germline

Chr2:96286417

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1778350

rs_144934076

6 SubmittersRCV000596259 RCV001701054 RCV001143285

NM_206933.4(USH2A):c.11047+1G>A

SNV
Germline

Chr1:215766680

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16609670

rs_201730567

6 SubmittersRCV000597898 RCV000670491 RCV001075129

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1395659

rs_199679165

9 SubmittersRCV000669125 RCV000605510 RCV001002689 RCV001208453 RCV003451354

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
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1393019

rs_143344549

12 SubmittersRCV000613330 RCV001040115 RCV001376397 RCV000986515 RCV003155245 RCV002506444

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
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1311884

rs_144011428

3 SubmittersRCV000608690 RCV001101000 RCV001101001 RCV001101002 RCV002063186

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

Stargardt disease
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA344046346

rs_564754426

5 SubmittersRCV000678549 RCV001040018 RCV003451477 RCV003451476 RCV000623037

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

3 SubmittersRCV000623287 RCV001376323 RCV003117431

NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)

SNV
Germline

Chr1:215647615

Pathogenic/Likely pathogenic

Inborn genetic diseases
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344831449

rs_1553250072

4 SubmittersRCV000624450 RCV001049229 RCV003451479

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
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA3877649

rs_201823777

10 SubmittersRCV000625445 RCV001058505 RCV001073246 RCV001276908

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
CFAP418-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4815197

rs_199731969

7 SubmittersRCV000625263 RCV001167827 RCV001700418 RCV003905669 RCV003889939

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

No Assertion Criteria Provided

CA348240272

rs_1309140887

1 SubmittersRCV000625642

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

4 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
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA658798460

rs_1423102192

2 SubmittersRCV000626460 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

Cone dystrophy
Retinal pigment epithelial atrophy
Retinitis pigmentosa 26
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2010833

rs_753994107

7 SubmittersRCV000626729 RCV000986950 RCV000787562 RCV001093154

NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter)

SNV
Germline

Chr6:42704581

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364135722

rs_1554269081

5 SubmittersRCV000627208 RCV001074257 RCV001003144 RCV001389850

NM_015662.3(IFT172):c.4147G>A (p.Glu1383Lys)

SNV
Germline

Chr2:27449704

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579711

rs_147668131

3 SubmittersRCV000653126 RCV001592830 RCV004547822

NM_152419.3(HGSNAT):c.887C>A (p.Ser296Ter)

SNV
Germline

Chr8:43178109

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

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

4 SubmittersRCV000645726 RCV001003156 RCV001835041

NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)

SNV
Germline

Chr14:88872432

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Retinitis pigmentosa 51
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome 8
Macular dystrophy
Retinitis pigmentosa
TTC8-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7302713

rs_140698625

7 SubmittersRCV000638366 RCV000765185 RCV001117719 RCV000787890 RCV001117718 RCV003928075 RCV002533215

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_003611.3(OFD1):c.892G>A (p.Gly298Arg)

SNV
Germline

ChrX:13749490

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Joubert syndrome 10

Criteria Provided
Conflicting Classifications

CA10351708

rs_778349684

2 SubmittersRCV000638947 RCV000766074

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

rs_1555794205

4 SubmittersRCV000657792 RCV000991057 RCV001376220

NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)

SNV
Germline

Chr1:94029567

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

rs_201609001

3 SubmittersRCV000658537 RCV001477776 RCV001526747

NM_025114.4(CEP290):c.6646-11T>G

SNV
Germline

Chr12:88059031

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_1431021703

2 SubmittersRCV000658659 RCV001199653

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

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 13
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555550617

8 SubmittersRCV000658761 RCV000761333 RCV001074369 RCV001003134

NM_001201543.2(FAM161A):c.1205C>G (p.Ser402Ter)

SNV
Germline

Chr2:61839799

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553354522

3 SubmittersRCV001199813 RCV000658866

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

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

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

rs_1433546528

2 SubmittersRCV000659059 RCV001199480

NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter)

SNV
Germline

ChrX:38323420

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555968524

2 SubmittersRCV001199811 RCV000659152

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

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

rs_1553263572

1 SubmittersRCV000661902

NM_152419.3(HGSNAT):c.235-9T>G

SNV
Germline

Chr8:43158566

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Conflicting Classifications

rs_913764481

2 SubmittersRCV000661918 RCV000661919 RCV001470454

NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter)

SNV
Germline

Chr4:47952608

Pathogenic

Retinitis pigmentosa 49
Retinal dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_199636364

8 SubmittersRCV000662351 RCV001075248 RCV001002956 RCV001268020

NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)

SNV
Germline

Chr1:215648726

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_199851839

6 SubmittersRCV000668551 RCV000678645 RCV001075854 RCV001855501

NM_206933.4(USH2A):c.14344-1G>A

SNV
Unknown

Chr1:215648767

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

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
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_765476745

7 SubmittersRCV000670968 RCV001004142 RCV001388593 RCV003453316

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

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
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_763463859

3 SubmittersRCV000673159 RCV003465523 RCV003698808

NM_206933.4(USH2A):c.13811+1G>A

SNV
Germline

Chr1:215674099

Pathogenic/Likely 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

rs_1177257719

6 SubmittersRCV001073725 RCV001231260 RCV000672985 RCV003446335 RCV003446336

NM_206933.4(USH2A):c.11048-2A>G

SNV
Germline

Chr1:215759845

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_200871041

9 SubmittersRCV000821987 RCV001074654 RCV001810473 RCV002468597

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

rs_1553261478

4 SubmittersRCV000673642 RCV002531341 RCV003446338 RCV003446337

NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)

SNV
Germline

Chr1:215639190

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_757676723

9 SubmittersRCV000668847 RCV001074753 RCV000792611 RCV001731867 RCV001276145 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

rs_752377040

5 SubmittersRCV000667292 RCV001004140 RCV001059699 RCV001075374 RCV003465473

NM_206933.4(USH2A):c.15052+1G>A

SNV
Unknown

Chr1:215639154

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

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

Criteria Provided
Single Submitter

rs_970237364

1 SubmittersRCV000669892

NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)

SNV
Germline

Chr1:215799050

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_764182950

12 SubmittersRCV000668871 RCV000986527 RCV000678659 RCV001724125 RCV001209780 RCV003389477 RCV001073802

NM_206933.4(USH2A):c.11712-2A>C

SNV
Germline

Chr1:215728386

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

rs_753505333

3 SubmittersRCV000672715 RCV002532133 RCV003446331 RCV003446330

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
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_747063294

10 SubmittersRCV000669826 RCV001074508 RCV001380767 RCV003453292 RCV003453291

NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)

SNV
Germline

Chr1:215671283

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_367674026

6 SubmittersRCV000673923 RCV001075535 RCV001212324 RCV001376439 RCV003453369

NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter)

SNV
Unknown

Chr1:215817114

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

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

Criteria Provided
Single Submitter

rs_766515318

1 SubmittersRCV000672770

NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)

SNV
Germline

Chr1:215838092

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_779572631

7 SubmittersRCV000673284 RCV001074343 RCV001091126 RCV003453363 RCV003453364 RCV004584401

NM_206933.4(USH2A):c.14969-1G>A

SNV
Unknown

Chr1:215639239

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_1553249311

1 SubmittersRCV000664876

NM_206933.4(USH2A):c.9055+1G>A

SNV
Germline

Chr1:215845823

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

rs_1553268562

4 SubmittersRCV000674124 RCV001861835 RCV003446340 RCV003446339

NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter)

SNV
Unknown

Chr1:215674817

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

rs_1163061829

1 SubmittersRCV000672003

NM_206933.4(USH2A):c.8682-2A>C

SNV
Germline

Chr1:215867172

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

rs_1553271002

4 SubmittersRCV000670330 RCV001377278 RCV003446312 RCV003446313

NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)

SNV
Germline

Chr1:215728265

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1431048303

5 SubmittersRCV000670856 RCV002265845 RCV003453310 RCV003453311 RCV003558512

NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)

SNV
Germline

Chr1:215878765

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_749452910

5 SubmittersRCV001389150 RCV001074600 RCV000671631 RCV003453327 RCV003453326

NM_206933.4(USH2A):c.11712-2A>G

SNV
Unknown

Chr1:215728386

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_753505333

1 SubmittersRCV000670898

NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)

SNV
Germline

Chr1:215888570

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553273330

7 SubmittersRCV001073245 RCV000669141 RCV001389152 RCV003453280 RCV003453281

NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)

SNV
Germline

Chr1:215779923

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

rs_779716464

5 SubmittersRCV000666031 RCV001273694 RCV001035468 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
Usher syndrome
USH2A-related disorder
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1485173724

9 SubmittersRCV000674780 RCV000797378 RCV001829884 RCV003389481 RCV004527731 RCV003453389

NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)

SNV
Germline

Chr1:215970680

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_759494205

5 SubmittersRCV000787739 RCV000669684 RCV001073606 RCV002271557 RCV002532090

NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn)

SNV
Germline

Chr1:215782125

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_910086490

3 SubmittersRCV000674831 RCV001230929

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

rs_1553261372

5 SubmittersRCV000673865 RCV001075394 RCV001861824 RCV003453367 RCV003453368

NM_206933.4(USH2A):c.14791+2T>A

SNV
Germline

Chr1:215647520

Pathogenic/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

rs_1553250050

3 SubmittersRCV000669209 RCV001855516 RCV003446306 RCV003446305

NM_206933.4(USH2A):c.11231+1G>A

SNV
Germline

Chr1:215759659

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

rs_111033382

3 SubmittersRCV000672187 RCV002531309 RCV003446325 RCV003446326

NM_206933.4(USH2A):c.6805+1G>T

SNV
Germline

Chr1:215993019

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

rs_1553285919

4 SubmittersRCV000674125 RCV001380331 RCV003446341 RCV003446342

NM_206933.4(USH2A):c.6326-2A>G

SNV
Germline

Chr1:216000564

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

rs_1553287118

3 SubmittersRCV000672161 RCV002531307 RCV003446322 RCV003446321

NM_206933.4(USH2A):c.14582+1G>C

SNV
Germline

Chr1:215648527

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553250150

5 SubmittersRCV000664550 RCV001075758 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

rs_749889050

6 SubmittersRCV000674387 RCV001003250 RCV001047727 RCV001829883 RCV002271563 RCV003453383

NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)

SNV
Germline

Chr1:216078262

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553299079

8 SubmittersRCV001074797 RCV001091135 RCV000672460 RCV002469251 RCV002272322 RCV003453347

NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro)

SNV
Germline

Chr1:216084847

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

rs_1162305984

5 SubmittersRCV000674537 RCV001300491 RCV003453385 RCV003453384

NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)

SNV
Germline

Chr1:215648686

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2

Criteria Provided
Single Submitter

rs_1553250184

2 SubmittersRCV000667924 RCV001003251

NM_206933.4(USH2A):c.13812-1G>A

SNV
Germline

Chr1:215671294

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

rs_199782530

3 SubmittersRCV000664526 RCV001868194 RCV003446291 RCV003446292

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_370327669

4 SubmittersRCV000665854 RCV001861747 RCV003446297 RCV003446296

NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)

SNV
Germline

Chr1:215674572

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_139474806

10 SubmittersRCV001003255 RCV001244688 RCV001074211 RCV000669731 RCV001376262 RCV003313971

NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)

SNV
Germline

Chr1:215782798

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

rs_944675223

5 SubmittersRCV000670682 RCV001383884 RCV003453308 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

Criteria Provided
Conflicting Classifications

rs_1553261464

3 SubmittersRCV000669285 RCV001055911

NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg)

SNV
Germline

Chr1:215675331

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_769001387

3 SubmittersRCV000673184 RCV001376749 RCV003472152

NM_206933.4(USH2A):c.4397-1G>A

SNV
Germline

Chr1:216175483

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_199982344

7 SubmittersRCV000665749 RCV001205806 RCV001075029 RCV001835072 RCV003446295 RCV004533465

NM_206933.4(USH2A):c.9258+1G>T

SNV
Germline

Chr1:215844293

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_748810737

7 SubmittersRCV000671455 RCV001075805 RCV003230570 RCV001855560 RCV003446317 RCV003446318

NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys)

SNV
Germline

Chr1:215782902

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_749121941

3 SubmittersRCV000669541 RCV001242045 RCV003459612

NM_206933.4(USH2A):c.10388-2A>G

SNV
Germline

Chr1:215782937

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553261479

6 SubmittersRCV000670401 RCV001212598 RCV001073509 RCV001830446 RCV003446314

NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)

SNV
Germline

Chr1:215680175

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_780893919

7 SubmittersRCV001003257 RCV001245259 RCV001810465 RCV003459567

NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)

SNV
Germline

Chr1:215680211

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

rs_988693758

7 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760302201

5 SubmittersRCV000673985 RCV001861829 RCV003453372 RCV003453373

NM_206933.4(USH2A):c.8682-1G>A

SNV
Germline

Chr1:215867171

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553271001

3 SubmittersRCV000665425 RCV003688868 RCV003459571

NM_206933.4(USH2A):c.3317-1G>A

SNV
Unknown

Chr1:216200122

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_1553313909

1 SubmittersRCV000669263

NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)

SNV
Germline

Chr1:216246618

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_749621457

5 SubmittersRCV000666463 RCV003889947 RCV003330880 RCV003451646 RCV003451647

NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)

SNV
Germline

Chr1:215758656

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

rs_749726310

4 SubmittersRCV000664530 RCV001247302 RCV003451624 RCV003451623

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

Criteria Provided
Conflicting Classifications

rs_138543813

7 SubmittersRCV000665320 RCV000825851 RCV001058364 RCV001276955

NM_206933.4(USH2A):c.9258G>T (p.Gln3086His)

SNV
Germline

Chr1:215844294

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1380261595

3 SubmittersRCV000671650 RCV001366543 RCV003459629

NM_206933.4(USH2A):c.8558+1G>T

SNV
Germline

Chr1:215878763

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_770383273

5 SubmittersRCV000818929 RCV001003266 RCV001075752 RCV000671361 RCV003446315 RCV003446316

NM_206933.4(USH2A):c.2168-2A>G

SNV
Germline

Chr1:216247228

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_993185407

8 SubmittersRCV001073756 RCV001199965 RCV001382734 RCV000672583 RCV003446327 RCV002272323

NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)

SNV
Germline

Chr1:216292291

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_483353054

7 SubmittersRCV000667787 RCV001067227 RCV001073924 RCV001271239 RCV003451662

NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)

SNV
Germline

Chr1:216323634

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1423536179

5 SubmittersRCV000666327 RCV001073487 RCV001377824 RCV004568500

NM_206933.4(USH2A):c.7595-1G>A

SNV
Unknown

Chr1:215889055

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553273421

2 SubmittersRCV000671968 RCV004568546

NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)

SNV
Germline

Chr1:215844433

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

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

Criteria Provided
Single Submitter

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
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553287070

5 SubmittersRCV000672769 RCV001861813 RCV003446333 RCV003446332

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

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
Multiple Submitters
No Conflicts

rs_1553270954

2 SubmittersRCV000669904 RCV003472118

NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter)

SNV
Unknown

Chr1:215867017

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

rs_1553270960

1 SubmittersRCV000669486

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
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553258122

4 SubmittersRCV000670151 RCV001855538 RCV003453295 RCV003155271 RCV003453294

NM_206933.4(USH2A):c.5572+1G>A

SNV
Germline

Chr1:216078088

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_775293551

8 SubmittersRCV000664714 RCV000815036 RCV001835904 RCV001073564 RCV003446294

NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu)

SNV
Germline

Chr1:215888778

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_748455430

4 SubmittersRCV001074307 RCV000671207 RCV002531272 RCV003459622

NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)

SNV
Germline

Chr1:215900101

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

rs_1553274424

4 SubmittersRCV000672102 RCV001231865 RCV003453342 RCV003453343

NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)

SNV
Germline

Chr1:215817098

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

rs_772100045

7 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
Usher syndrome
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

rs_758095361

6 SubmittersRCV001073769 RCV001810466 RCV001731858 RCV002530650 RCV003459568

NM_206933.4(USH2A):c.9041C>A (p.Thr3014Asn)

SNV
Germline

Chr1:215845838

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_144892841

2 SubmittersRCV000667675 RCV001861760

NM_206933.4(USH2A):c.8846-1G>T

SNV
Germline

Chr1:215846034

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553273421

4 SubmittersRCV000669247 RCV002532085 RCV003446307 RCV003446308

NM_206933.4(USH2A):c.4988-2A>G

SNV
Germline

Chr1:216084879

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

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
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553300340

4 SubmittersRCV000672653 RCV001377692 RCV003446328 RCV003446329

NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)

SNV
Germline

Chr1:216089077

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_745350407

6 SubmittersRCV000671982 RCV001074119 RCV001868259 RCV003389478 RCV003453338 RCV003453339

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

rs_1230923403

3 SubmittersRCV000669208 RCV002265843 RCV002532084

NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)

SNV
Germline

Chr1:216198476

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_756623509

6 SubmittersRCV000669530 RCV001268204 RCV003453288 RCV003453289

NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)

SNV
Germline

Chr1:216198513

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

rs_764797292

6 SubmittersRCV000672888 RCV001047995 RCV001271229 RCV003389479 RCV003453359

NM_206933.4(USH2A):c.2994-2A>G

SNV
Unknown

Chr1:216217552

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_767078782

12 SubmittersRCV000673272 RCV000826153 RCV001075425 RCV001271234 RCV001384598 RCV003453362

NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg)

SNV
Germline

Chr1:216292286

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1553327470

3 SubmittersRCV000668480 RCV001377823 RCV003889952

NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)

SNV
Germline

Chr1:216084698

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1342455785

9 SubmittersRCV000667892 RCV001067077 RCV001276250 RCV001075428 RCV003451666 RCV004533468

NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)

SNV
Germline

Chr1:216196630

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1177198729

5 SubmittersRCV000666713 RCV001003274 RCV001376203 RCV001065685 RCV003451652

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
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

rs_147509797

7 SubmittersRCV000666371 RCV001101108 RCV001101109 RCV001302702 RCV003330879 RCV003889946 RCV003451645

NM_206933.4(USH2A):c.4082-2A>G

SNV
Unknown

Chr1:216196724

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_1553313340

1 SubmittersRCV000669313

NM_206933.4(USH2A):c.1972-1G>A

SNV
Germline

Chr1:216251099

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_372927796

6 SubmittersRCV001074724 RCV001377215 RCV003446323 RCV000672169 RCV003446324

NM_206933.4(USH2A):c.4081+2T>C

SNV
Unknown

Chr1:216198313

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_1553313505

1 SubmittersRCV000670108

NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)

SNV
Germline

Chr1:216323474

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1393503590

7 SubmittersRCV001075316 RCV001230842 RCV001376349 RCV001797777 RCV001810471

NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)

SNV
Germline

Chr1:216323627

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1553250627

4 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

rs_1394737087

4 SubmittersRCV000669105 RCV001727791 RCV002531217 RCV003453279

NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr)

SNV
Germline

Chr1:216323483

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_768813865

3 SubmittersRCV000666580 RCV001227344 RCV003459581

NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)

SNV
Germline

Chr1:216246741

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_746071929

10 SubmittersRCV000778220 RCV001075434 RCV001098933 RCV001376385 RCV001244238 RCV001731856

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

rs_748961218

8 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
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_771583281

11 SubmittersRCV000667707 RCV001003280 RCV001035076 RCV001376264 RCV001073540 RCV001829844 RCV002509496

NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)

SNV
Germline

Chr1:216251047

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_868562952

5 SubmittersRCV000669090 RCV001727790 RCV001861774 RCV003453278

NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly)

SNV
Germline

Chr1:216325408

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_762384558

3 SubmittersRCV000669952 RCV002531241 RCV003472120

NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)

SNV
Germline

Chr1:216289392

Pathogenic

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

Reviewed By Expert Panel

rs_758571672

9 SubmittersRCV000664581 RCV000761343 RCV001171545 RCV001208650 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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553250952

6 SubmittersRCV000666765 RCV000760349 RCV001841851 RCV002468596

NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)

SNV
Germline

Chr1:216418627

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

rs_1171672823

5 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
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_758303489

7 SubmittersRCV000667534 RCV001003286 RCV001382060 RCV001075062 RCV001835907 RCV003459585

NM_206933.4(USH2A):c.651+1G>A

SNV
Germline

Chr1:216418513

Pathogenic/Likely 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

rs_1553257761

4 SubmittersRCV000668857 RCV001054302 RCV001526995 RCV003446301 RCV003446302

NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)

SNV
Germline

Chr1:216421888

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

rs_1553258037

3 SubmittersRCV000672162 RCV002531308 RCV003453344 RCV003453345

NM_206933.4(USH2A):c.187C>T (p.Arg63Ter)

SNV
Germline

Chr1:216422150

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_781223647

7 SubmittersRCV001074678 RCV000672792 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
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

rs_775094277

5 SubmittersRCV000674232 RCV001300495 RCV001830462 RCV003459644

NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)

SNV
Germline

Chr1:68438958

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Conflicting Classifications

rs_1169420841

2 SubmittersRCV000672144

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

Reviewed By Expert Panel

rs_1553153135

4 SubmittersRCV000672055 RCV001549804 RCV004527392

NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)

SNV
Germline

Chr2:181544762

Conflicting classifications of pathogenicity

Retinitis pigmentosa 26
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_1187839124

9 SubmittersRCV000671115 RCV000794851 RCV001074698 RCV000779293

NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)

SNV
Germline

Chr3:150928094

Pathogenic/Likely pathogenic

Usher syndrome type 3
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

rs_376155416

3 SubmittersRCV000667382 RCV003465476

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

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

Criteria Provided
Conflicting Classifications

rs_145623359

6 SubmittersRCV000671055 RCV000779516 RCV001059673

NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val)

SNV
Germline

Chr6:64081865

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_184448644

5 SubmittersRCV000667276 RCV001272973 RCV001055122 RCV003889948

NM_001142800.2(EYS):c.2259+1G>A

SNV
Germline

Chr6:64997581

Pathogenic

Retinitis pigmentosa 25
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_752736741

7 SubmittersRCV000674793 RCV001051444 RCV001003024 RCV003889965

NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)

SNV
Germline

Chr6:65296034

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_142450703

8 SubmittersRCV001003026 RCV000667034 RCV001248547 RCV002282303

NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser)

SNV
Germline

Chr6:64813492

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_143327210

5 SubmittersRCV000670338 RCV000908975 RCV001159869

NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu)

SNV
Germline

Chr6:64886803

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25
not specified

Criteria Provided
Conflicting Classifications

rs_766153322

4 SubmittersRCV001244051 RCV003889958 RCV000669964 RCV003488796

NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu)

SNV
Germline

Chr6:63778036

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_559824825

5 SubmittersRCV000672988 RCV000779515 RCV000926124

NM_001142800.2(EYS):c.7229-1G>A

SNV
Germline

Chr6:63806373

Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_778030177

4 SubmittersRCV000666796 RCV000787833 RCV002530696

NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp)

SNV
Germline

Chr6:64886797

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

rs_762212630

4 SubmittersRCV001244052 RCV000669963 RCV003889957 RCV003488795

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

rs_775078211

8 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554537807

3 SubmittersRCV000672832 RCV001855586 RCV003489791

NM_152419.3(HGSNAT):c.852-1G>A

SNV
Germline

Chr8:43178073

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

rs_1447092074

3 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

rs_1554533211

3 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

rs_766835582

4 SubmittersRCV000666423 RCV001383040 RCV002254940

NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)

SNV
Germline

Chr8:43192323

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Sanfilippo syndrome

Criteria Provided
Conflicting Classifications

rs_747616932

3 SubmittersRCV000674664 RCV001868282 RCV002282322

NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter)

SNV
Germline

Chr8:43197900

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_749568919

3 SubmittersRCV000670012 RCV001069675

NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu)

SNV
Germline

Chr8:43196949

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Conflicting Classifications

rs_1554537586

2 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_747240928

6 SubmittersRCV000667348 RCV001040598 RCV001556095 RCV002222590

NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)

SNV
Germline

Chr11:66519689

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
Retinitis pigmentosa
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

rs_761760689

3 SubmittersRCV000670649 RCV001724126 RCV001861797

NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr)

SNV
Germline

Chr15:71817646

Conflicting classifications of pathogenicity

Retinitis pigmentosa 37
Enhanced S-cone syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199564404

3 SubmittersRCV000668213 RCV002532069

NM_014249.4(NR2E3):c.1101-10T>C

SNV
Germline

Chr15:71817542

Conflicting classifications of pathogenicity

Retinitis pigmentosa 37
Enhanced S-cone syndrome
Condition: not provided
Enhanced S-cone syndrome

Criteria Provided
Conflicting Classifications

rs_763647845

3 SubmittersRCV000674671 RCV000896041 RCV001835913

NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)

SNV
Germline

Chr16:56497063

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_201063733

5 SubmittersRCV000668757 RCV000806329 RCV002507165

NM_031885.5(BBS2):c.534+1G>T

SNV
Germline

Chr16:56510858

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_773862084

10 SubmittersRCV000762968 RCV000669469 RCV001784258 RCV001075332 RCV000694960

NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)

SNV
Germline

Chr16:56497760

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_762047808

6 SubmittersRCV000665245 RCV000802962 RCV002507153

NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)

SNV
Germline

Chr16:56502799

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_764164384

11 SubmittersRCV000667444 RCV000808886 RCV001528280 RCV003889949 RCV002499159

NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)

SNV
Germline

Chr16:56506137

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_779690256

10 SubmittersRCV000669549 RCV000815857 RCV001597198 RCV002507167 RCV003889955 RCV004544929

NM_014249.4(NR2E3):c.119-6C>T

SNV
Germline

Chr15:71811477

Conflicting classifications of pathogenicity

Enhanced S-cone syndrome
Retinitis pigmentosa 37
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_745910334

2 SubmittersRCV000672394 RCV001417193

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

rs_199830550

2 SubmittersRCV000677195 RCV001257803

NM_000329.3(RPE65):c.718G>T (p.Val240Phe)

SNV
Germline

Chr1:68439568

Likely pathogenic

Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

rs_192907397

4 SubmittersRCV000754973 RCV001244442 RCV003232070

NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)

SNV
Germline

Chr1:68446713

Pathogenic

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

Reviewed By Expert Panel

rs_1429137932

6 SubmittersRCV001098873 RCV001053470 RCV000754977 RCV001098872 RCV001756143 RCV004527393

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

rs_1558151555

4 SubmittersRCV000678655 RCV001814216 RCV003459648 RCV003558534

NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)

SNV
Germline

Chr1:215970656

Pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_748983904

3 SubmittersRCV000678654 RCV003558533

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

rs_1057518826

7 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

rs_1558366840

1 SubmittersRCV000678648

NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)

SNV
Germline

Chr1:68431116

Likely pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

rs_1395763356

2 SubmittersRCV000678615 RCV001868293

NM_000283.4(PDE6B):c.583A>T (p.Lys195Ter)

SNV
Unknown

Chr4:634791

Pathogenic

Retinitis pigmentosa 40

No Assertion Criteria Provided

rs_1212998897

1 SubmittersRCV000678597

NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)

SNV
Germline

Chr6:64388718

Pathogenic/Likely pathogenic

Macular dystrophy
Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_868349465

7 SubmittersRCV000678568 RCV001257882 RCV001034750 RCV002499195

NM_001142800.2(EYS):c.103C>T (p.Gln35Ter)

SNV
Germline

Chr6:65495308

Pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Single Submitter

rs_749410700

3 SubmittersRCV000678561 RCV001701433

NM_006269.2(RP1):c.1451C>A (p.Ser484Ter)

SNV
Unknown

Chr8:54625333

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 1

No Assertion Criteria Provided

rs_1563329888

2 SubmittersRCV000787688 RCV000678609

NM_182894.3(VSX2):c.609G>A (p.Trp203Ter)

SNV
Unknown

Chr14:74259631

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1566888340

1 SubmittersRCV000678661

NM_015072.5(TTLL5):c.1487+1G>A

SNV
Unknown

Chr14:75745582

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1566585766

1 SubmittersRCV000678634

NM_004727.3(SLC24A1):c.95T>A (p.Leu32Ter)

SNV
Unknown

Chr15:65624175

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1566945534

1 SubmittersRCV000678630

NM_000554.6(CRX):c.205C>T (p.Arg69Cys)

SNV
Germline

Chr19:47836347

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_771551785

3 SubmittersRCV000678552 RCV002531393 RCV001074637

NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys)

SNV
Germline

Chr19:54126582

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 11

Criteria Provided
Conflicting Classifications

rs_750340477

6 SubmittersRCV001074752 RCV001584548 RCV000678605

NM_015629.4(PRPF31):c.1291C>T (p.Gln431Ter)

SNV
Germline

Chr19:54129287

Pathogenic

Retinitis pigmentosa 11
Condition: not provided

Criteria Provided
Single Submitter

rs_1568600184

2 SubmittersRCV000678604 RCV002532180

NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)

SNV
Germline

Chr1:216199777

Pathogenic

Deafness
Condition: not provided
Hearing loss, autosomal recessive
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_767797828

4 SubmittersRCV000679847 RCV001068678 RCV001291497 RCV003459653

NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter)

SNV
Germline

Chr1:215680292

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1262416703

4 SubmittersRCV000680443 RCV001383777 RCV003465549

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

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

rs_1557447255

7 SubmittersRCV000691673 RCV001539674 RCV002233230

NM_015662.3(IFT172):c.811C>T (p.Arg271Ter)

SNV
Germline

Chr2:27480124

Pathogenic

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

Criteria Provided
Single Submitter

rs_1250676888

1 SubmittersRCV000702336

NM_001278293.3(ARL6):c.185+1G>C

SNV
Germline

Chr3:97780221

Pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Single Submitter

rs_1559679965

1 SubmittersRCV000698473

NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter)

SNV
Germline

Chr8:43169216

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Sanfilippo syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1563366896

2 SubmittersRCV000689696 RCV000780340

NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)

SNV
Germline

Chr16:1583369

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa
Saldino-Mainzer syndrome
IFT140-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_140039128

4 SubmittersRCV001535954 RCV001724143 RCV000704469 RCV003411642

NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)

SNV
Germline

Chr8:43197848

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Retinal dystrophy
Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_756310864

5 SubmittersRCV000689608 RCV001074231 RCV001358677 RCV003323688

NM_003611.3(OFD1):c.324G>A (p.Met108Ile)

SNV
Germline

ChrX:13738857

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Familial aplasia of the vermis
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_763219658

4 SubmittersRCV000692393 RCV000766073 RCV003133533 RCV003330905

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

rs_41279408

4 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

rs_1160669210

3 SubmittersRCV000735917 RCV001724144 RCV003106027

NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr)

SNV
Germline

Chr1:197429570

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

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
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_988133284

4 SubmittersRCV000754599 RCV001382566 RCV001731903 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

rs_1241995212

2 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

rs_1564730440

3 SubmittersRCV000714966 RCV001862010

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

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
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

rs_144938800

3 SubmittersRCV000728408 RCV000813538 RCV002477684

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

rs_281865296

5 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

rs_12109444

3 SubmittersRCV000729000 RCV001153812 RCV001512641

NM_000329.3(RPE65):c.94+10G>A

SNV
Germline

Chr1:68448614

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_777879312

3 SubmittersRCV000729049 RCV001468497 RCV001825450

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

Criteria Provided
Conflicting Classifications

rs_1558251712

4 SubmittersRCV000729471 RCV001199797 RCV003461003

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

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
Retinitis pigmentosa
Pigmentary retinal dystrophy
Retinitis pigmentosa 4

Criteria Provided
Conflicting Classifications

rs_756658659

6 SubmittersRCV000729715 RCV000778676 RCV001196773 RCV001265204

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

Criteria Provided
Conflicting Classifications

rs_141114765

5 SubmittersRCV000731746 RCV001197867 RCV002279505

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

rs_745313320

3 SubmittersRCV000732343 RCV002499364

NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter)

SNV
Germline

Chr2:29073071

Pathogenic

Retinitis pigmentosa 54
Condition: not provided

Criteria Provided
Single Submitter

rs_777103184

2 SubmittersRCV000735858 RCV003660832

NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile)

SNV
Germline

Chr1:197421120

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_751691851

4 SubmittersRCV000755992 RCV001049610 RCV001825490 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

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

rs_199736893

4 SubmittersRCV000756672 RCV001141440 RCV003889973

NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)

SNV
Germline

Chr6:65353609

Pathogenic

Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_1471994744

7 SubmittersRCV000758197 RCV001043442 RCV001075396 RCV001003028

NM_001621.5(AHR):c.1160+1G>A

SNV
Germline

Chr7:17335787

Pathogenic

Retinitis pigmentosa 85

No Assertion Criteria Provided

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

rs_1562263385

2 SubmittersRCV000760151 RCV002533833

NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter)

SNV
Germline

Chr1:197356926

Pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_778627080

5 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 type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_758660532

7 SubmittersRCV000760346 RCV001074647 RCV001825506 RCV003453567 RCV003324534

NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)

SNV
Germline

Chr1:215759826

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_41314534

5 SubmittersRCV000760347 RCV003453568 RCV003461016

NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)

SNV
Germline

Chr1:215888650

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1301139848

4 SubmittersRCV000760647 RCV003453570 RCV004569425

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

rs_777629750

4 SubmittersRCV000760648 RCV003453571 RCV003453572

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

rs_1466666397

3 SubmittersRCV000760350 RCV003461017

NM_006269.2(RP1):c.1625C>G (p.Ser542Ter)

SNV
Germline

Chr8:54625507

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_779334655

4 SubmittersRCV000988060 RCV000760408

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_144513458

2 SubmittersRCV000760741 RCV002500984

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

rs_1558146243

3 SubmittersRCV000760987 RCV002533857

NM_006017.3(PROM1):c.1301+2T>C

SNV
Germline

Chr4:16008947

Pathogenic/Likely pathogenic

Cone-rod dystrophy 12
Condition: not provided
Cone-rod dystrophy
Retinitis pigmentosa 41

Criteria Provided
Multiple Submitters
No Conflicts

rs_775957498

7 SubmittersRCV000761332 RCV001093373 RCV001199727 RCV001592948

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

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

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

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

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

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
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

rs_1171264735

4 SubmittersRCV000761703 RCV001199793 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

rs_1558341842

2 SubmittersRCV000761705 RCV001199792

NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)

SNV
Germline

Chr6:135394853

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Joubert syndrome 3
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

rs_777215595

8 SubmittersRCV000762434 RCV001073854 RCV001002862 RCV001785719 RCV001237047

NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)

SNV
Germline

Chr6:63721252

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_373203896

6 SubmittersRCV000762414 RCV000787601 RCV001073470 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

rs_752930400

6 SubmittersRCV000762418 RCV001274884 RCV002493393

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

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

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

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

rs_1411083098

4 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

rs_200946638

3 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

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

rs_759945007

2 SubmittersRCV000767360 RCV003558565

NM_000539.3(RHO):c.538C>A (p.Pro180Thr)

SNV
Germline

Chr3:129532258

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

rs_1560046837

2 SubmittersRCV000767362

NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys)

SNV
Germline

Chr1:197442284

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
not specified
CRB1-related disorder

Criteria Provided
Conflicting Classifications

rs_137853136

5 SubmittersRCV001073728 RCV001201620 RCV001825517 RCV003323720 RCV004527798

NM_206933.4(USH2A):c.1346G>A (p.Arg449His)

SNV
Germline

Chr1:216323678

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_766715882

5 SubmittersRCV000778221 RCV001049330 RCV001099202 RCV003453611 RCV003889976

NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)

SNV
Germline

Chr1:94019665

Conflicting classifications of pathogenicity

ABCA4-related disorder
Condition: not provided
Retinal dystrophy
Cone-rod dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 1

Criteria Provided
Conflicting Classifications

rs_771038310

7 SubmittersRCV000779001 RCV000994038 RCV001074860 RCV001199620 RCV002267624 RCV003322616

NM_000539.3(RHO):c.1025C>T (p.Thr342Met)

SNV
Germline

Chr3:129533696

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Congenital stationary night blindness autosomal dominant 1

Criteria Provided
Conflicting Classifications

rs_183318466

3 SubmittersRCV000779383 RCV001090667 RCV001150104

NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter)

SNV
Germline

Chr4:47936567

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_750954043

4 SubmittersRCV000778729 RCV001381268 RCV003489863

NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter)

SNV
Germline

Chr4:662218

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
PDE6B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_772057239

4 SubmittersRCV001075255 RCV001234473 RCV001724153 RCV004527806

NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)

SNV
Germline

Chr6:10770205

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_186643840

3 SubmittersRCV000779484 RCV003768450

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

rs_779983752

7 SubmittersRCV000779514 RCV000791712 RCV001074431 RCV003467306

NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser)

SNV
Germline

Chr6:63806207

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_145184183

5 SubmittersRCV000778922 RCV001248752 RCV001830668 RCV003889977

NM_001142800.2(EYS):c.732T>A (p.Cys244Ter)

SNV
Germline

Chr6:65494679

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1562220891

4 SubmittersRCV000778798 RCV003465708 RCV003688882

NM_000440.3(PDE6A):c.2275-1G>A

SNV
Germline

Chr5:149866254

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1428612396

3 SubmittersRCV000778760 RCV001064857

NM_001297.5(CNGB1):c.534+1G>A

SNV
Germline

Chr16:57960839

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200862689

2 SubmittersRCV000778474 RCV001379338

NM_006899.5(IDH3B):c.768+1G>T

SNV
Germline

Chr20:2660262

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1568548317

2 SubmittersRCV000779345 RCV003669171

NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)

SNV
Germline

Chr1:216321956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_772624410

4 SubmittersRCV000785178 RCV001578969 RCV002535724

NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter)

SNV
Germline

Chr4:15989758

Pathogenic

Retinitis pigmentosa 41
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_530749007

5 SubmittersRCV000784975 RCV001093370 RCV003889979

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

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
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_150412614

10 SubmittersRCV000786007 RCV001002994 RCV001250600 RCV001075564 RCV001869175 RCV003453619 RCV003453620

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

rs_1360258103

2 SubmittersRCV000786945 RCV003992391

NM_006343.3(MERTK):c.692G>C (p.Trp231Ser)

SNV
Germline

Chr2:111947502

Likely pathogenic

Retinitis pigmentosa 38

No Assertion Criteria Provided

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

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

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

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

rs_777889289

1 SubmittersRCV000786892

NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)

SNV
Germline

Chr1:197421720

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

rs_1271816211

6 SubmittersRCV001250596 RCV000787575 RCV000795927 RCV001766622 RCV001830677

NM_201253.3(CRB1):c.3121A>G (p.Met1041Val)

SNV
Germline

Chr1:197434984

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_781705903

3 SubmittersRCV000787580 RCV001869189 RCV003472323

NM_206933.4(USH2A):c.13948C>T (p.Gln4650Ter)

SNV
Unknown

Chr1:215671157

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1571945537

1 SubmittersRCV001731926

NM_206933.4(USH2A):c.13274C>A (p.Thr4425Lys)

SNV
Unknown

Chr1:215674637

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_201238640

1 SubmittersRCV000787722

NM_206933.4(USH2A):c.12161G>T (p.Ser4054Ile)

SNV
Unknown

Chr1:215680282

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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

rs_1453306308

1 SubmittersRCV000787743

NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)

SNV
Germline

Chr1:215879068

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_201863550

9 SubmittersRCV000787741 RCV001073611 RCV001091130 RCV001004145 RCV003226391 RCV003453626

NM_206933.4(USH2A):c.5473G>T (p.Glu1825Ter)

SNV
Unknown

Chr1:216078188

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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

rs_753908845

2 SubmittersRCV000787730 RCV001370945

NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser)

SNV
Unknown

Chr1:216217539

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1572060087

1 SubmittersRCV000787728

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_771000800

6 SubmittersRCV000787723 RCV001046264 RCV001074359 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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_772421550

4 SubmittersRCV000787624 RCV001074011 RCV001230244 RCV002501026

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

rs_959069360

10 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

rs_1578278354

1 SubmittersRCV000787678

NM_000539.3(RHO):c.810C>A (p.Ser270Arg)

SNV
Germline

Chr3:129532646

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 4
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_768210562

4 SubmittersRCV000787684 RCV001265161 RCV001387000 RCV003889982

NM_000539.3(RHO):c.934C>T (p.Gln312Ter)

SNV
Germline

Chr3:129532770

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_766357803

3 SubmittersRCV000787650 RCV001388262 RCV003225955

NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys)

SNV
Germline

Chr4:626011

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 40
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749657417

5 SubmittersRCV000787647 RCV001198798 RCV001073444 RCV001873210

NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter)

SNV
Unknown

Chr5:149898483

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1581180469

2 SubmittersRCV000787636

NM_000440.3(PDE6A):c.1054C>T (p.Gln352Ter)

SNV
Unknown

Chr5:149907323

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1581190641

1 SubmittersRCV000787635

NM_000440.3(PDE6A):c.1A>G (p.Met1Val)

SNV
Unknown

Chr5:149944673

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_976670244

1 SubmittersRCV000787639

NM_001242957.3(MAK):c.814C>T (p.Arg272Ter)

SNV
Germline

Chr6:10801909

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_753314164

3 SubmittersRCV000787620 RCV001388822

NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter)

SNV
Germline

Chr6:42704517

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

No Assertion Criteria Provided

rs_61755811

2 SubmittersRCV000787667 RCV001530251

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

rs_748838955

5 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

rs_919157306

3 SubmittersRCV000787598 RCV002535753 RCV003467320

NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)

SNV
Germline

Chr6:64912597

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_74419361

9 SubmittersRCV000787592 RCV001041783 RCV001376444 RCV003889981

NM_001142800.2(EYS):c.873T>A (p.Cys291Ter)

SNV
Unknown

Chr6:65405357

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_777482895

1 SubmittersRCV000787600

NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter)

SNV
Unknown

Chr8:54625937

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 1

Criteria Provided
Single Submitter

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

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

rs_879399888

1 SubmittersRCV000787695

NM_006269.2(RP1):c.4576G>T (p.Glu1526Ter)

SNV
Unknown

Chr8:54628458

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1585567204

1 SubmittersRCV000787696

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_368489658

4 SubmittersRCV000787671 RCV001377219 RCV001830679

NM_152443.3(RDH12):c.610A>C (p.Lys204Gln)

SNV
Unknown

Chr14:67727142

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1594866237

1 SubmittersRCV000787673

NM_015629.4(PRPF31):c.961A>T (p.Lys321Ter)

SNV
Unknown

Chr19:54128088

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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

rs_1601943268

4 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

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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_754970095

7 SubmittersRCV000787742 RCV001091128 RCV001830680 RCV003461062

NM_006343.3(MERTK):c.757+1G>A

SNV
Unknown

Chr2:111947568

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1573592124

1 SubmittersRCV000787625

NM_006343.3(MERTK):c.960+1G>A

SNV
Unknown

Chr2:111968253

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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

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

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

rs_781616522

1 SubmittersRCV000787637

NM_000440.3(PDE6A):c.627+2T>G

SNV
Unknown

Chr5:149934564

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1581211727

1 SubmittersRCV000787642

NM_032119.4(ADGRV1):c.4379-1G>A

SNV
Germline

Chr5:90657904

Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

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

rs_1167742176

1 SubmittersRCV000787597

NM_001142800.2(EYS):c.2023+5G>T

SNV
Germline

Chr6:65295858

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

rs_1287889008

4 SubmittersRCV001047358 RCV000787590 RCV001592964

NM_000883.4(IMPDH1):c.402+1G>T

SNV
Unknown

Chr7:128403705

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1562998089

1 SubmittersRCV000787617

NM_006269.2(RP1):c.788-2A>T

SNV
Germline

Chr8:54624668

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1422250479

3 SubmittersRCV000787697 RCV001092030

NM_024649.5(BBS1):c.1110+3G>C

SNV
Germline

Chr11:66523885

Pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_762276925

2 SubmittersRCV000787532 RCV000787786

NM_001297.5(CNGB1):c.2166+1G>A

SNV
Unknown

Chr16:57917267

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1596976316

1 SubmittersRCV000787567

NM_015629.4(PRPF31):c.421-2A>G

SNV
Germline

Chr19:54123452

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

rs_1600340117

2 SubmittersRCV000787654 RCV001856212

NM_015629.4(PRPF31):c.855+1G>T

SNV
Unknown

Chr19:54124657

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1057520752

1 SubmittersRCV000787657

NM_001034853.2(RPGR):c.28+1G>C

SNV
Unknown

ChrX:38327339

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_62638627

1 SubmittersRCV000787715

NM_001256789.3(CACNA1F):c.818-1G>A

SNV
Unknown

ChrX:49228448

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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

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

rs_1571525390

1 SubmittersRCV000787827

NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe)

SNV
Germline

Chr1:215790231

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_770756678

3 SubmittersRCV000787900 RCV002535760 RCV003330950

NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr)

SNV
Germline

Chr1:215838016

Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1571623023

2 SubmittersRCV000787894 RCV001869195

NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)

SNV
Germline

Chr1:68444800

Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

rs_1571170561

2 SubmittersRCV000787882 RCV002535759

NM_152618.3(BBS12):c.1223A>G (p.Lys408Arg)

SNV
Unknown

Chr4:122743115

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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

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

rs_1581744084

1 SubmittersRCV000787892

NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro)

SNV
Germline

Chr6:42704541

Pathogenic

Retinitis pigmentosa
Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

rs_1582764878

3 SubmittersRCV000787870 RCV001530370 RCV001869193

NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)

SNV
Germline

Chr6:63762583

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

rs_374714909

5 SubmittersRCV000787834 RCV001225106 RCV001830681

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

Criteria Provided
Conflicting Classifications

rs_144498273

5 SubmittersRCV000787840 RCV000878134 RCV001159891

NM_198428.3(BBS9):c.115A>G (p.Lys39Glu)

SNV
Unknown

Chr7:33152703

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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

Criteria Provided
Conflicting Classifications

rs_148296108

4 SubmittersRCV000787878 RCV001204614

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

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
Condition: not provided
Pigmentary retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_1058635

3 SubmittersRCV000787875 RCV001323576 RCV001198888

NM_000326.5(RLBP1):c.346G>C (p.Gly116Arg)

SNV
Unknown

Chr15:89217120

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_762326108

1 SubmittersRCV000787877

NM_001793.6(CDH3):c.3G>A (p.Met1Ile)

SNV
Unknown

Chr16:68645382

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1238109100

1 SubmittersRCV000787809

NM_174878.3(CLRN1):c.434-2A>T

SNV
Unknown

Chr3:150928203

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Stargardt disease 4

Criteria Provided
Conflicting Classifications

rs_370302107

3 SubmittersRCV000787863 RCV000895051 RCV001149316 RCV001146547 RCV001146548

NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter)

SNV
Germline

Chr8:43182180

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_752939204

3 SubmittersRCV000791142 RCV003768479 RCV003889987

NM_174878.3(CLRN1):c.433+1G>A

SNV
Germline

Chr3:150941581

Pathogenic

Usher syndrome type 3
Condition: not provided
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

rs_201205811

5 SubmittersRCV000791320 RCV001387204 RCV003467324

NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter)

SNV
Germline

Chr1:197427750

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_1571540037

1 SubmittersRCV000801518

NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)

SNV
Germline

Chr1:197434900

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_143511261

3 SubmittersRCV000817389 RCV001250612

NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter)

SNV
Germline

Chr1:197477826

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_763324776

3 SubmittersRCV000816727 RCV003473495 RCV003446450

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

rs_760858249

3 SubmittersRCV000820938 RCV001830806 RCV003473510

NM_206933.4(USH2A):c.8584C>T (p.Gln2862Ter)

SNV
Germline

Chr1:215877855

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_748863844

2 SubmittersRCV000799208 RCV003461113

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

rs_770329105

6 SubmittersRCV000819794 RCV001276249 RCV002507436 RCV003453722 RCV003889991

NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)

SNV
Germline

Chr1:68431509

Pathogenic

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

Reviewed By Expert Panel

rs_774130993

8 SubmittersRCV000817537 RCV001075233 RCV001089892 RCV001593012 RCV001830793 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

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

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
Single Submitter

rs_1187991259

2 SubmittersRCV000823214 RCV001277038

NM_015662.3(IFT172):c.4209G>C (p.Gln1403His)

SNV
Germline

Chr2:27449514

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_149065251

2 SubmittersRCV000794291 RCV004549870

NM_015662.3(IFT172):c.449G>C (p.Gly150Ala)

SNV
Germline

Chr2:27483613

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

rs_368343162

3 SubmittersRCV000804395 RCV002537178 RCV004549880

NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)

SNV
Germline

Chr6:64945794

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_371032798

8 SubmittersRCV000805595 RCV001073821 RCV001276904 RCV001376318

NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter)

SNV
Germline

Chr8:43146993

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

rs_1586698317

1 SubmittersRCV000807281

NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)

SNV
Germline

Chr12:88071859

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 1
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_778030031

5 SubmittersRCV000815985 RCV000988881 RCV002495153 RCV003467476 RCV003324535

NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)

SNV
Germline

Chr14:67733780

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_200387832

8 SubmittersRCV000811812 RCV000993757 RCV001074674 RCV001171676

NM_206933.4(USH2A):c.6325+1G>A

SNV
Germline

Chr1:216046430

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1293202153

3 SubmittersRCV000803457 RCV001830736 RCV003461145

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

rs_1574426870

3 SubmittersRCV000803173 RCV001835968

NM_001142800.2(EYS):c.1766+1G>T

SNV
Germline

Chr6:65334979

Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_776204925

5 SubmittersRCV000792622 RCV001260372 RCV001830688

NM_001142800.2(EYS):c.7228+1G>A

SNV
Germline

Chr6:63864185

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_758899480

9 SubmittersRCV000815788 RCV001271841 RCV001376457

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

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

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

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

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
Stargardt disease 4
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_375358457

3 SubmittersRCV000844932 RCV000908779 RCV001146424 RCV001146425 RCV001146426 RCV001146427

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

rs_751413984

3 SubmittersRCV000845027 RCV001074241 RCV001387025

NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)

SNV
Germline

Chr1:94001919

Conflicting classifications of pathogenicity

Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinal dystrophy
Cone-rod dystrophy 3
Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_367839100

5 SubmittersRCV000850519 RCV001074418 RCV001262439 RCV001234782 RCV002051899

NM_001164665.2(KIAA1549):c.4686C>A (p.His1562Gln)

SNV
Germline

Chr7:138869627

Pathogenic

Retinitis pigmentosa 86

No Assertion Criteria Provided

rs_776206391

1 SubmittersRCV000852364

NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg)

SNV
Germline

Chr7:128396955

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_61751223

4 SubmittersRCV001162852 RCV001162853 RCV000877808

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

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
Cone-rod dystrophy 10
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_146011929

2 SubmittersRCV000946504 RCV001099381 RCV001099382

NM_201253.3(CRB1):c.2976A>G (p.Ala992=)

SNV
Germline

Chr1:197434839

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_200379694

3 SubmittersRCV000951452 RCV001271902 RCV001099307 RCV001099306 RCV001099308

NM_000329.3(RPE65):c.942C>T (p.His314=)

SNV
Germline

Chr1:68438998

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

rs_752875512

3 SubmittersRCV000952170 RCV001102428 RCV001102429 RCV001836036

NM_000329.3(RPE65):c.102C>A (p.Ile34=)

SNV
Germline

Chr1:68446853

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_146357166

3 SubmittersRCV000949153 RCV001084737 RCV001100685 RCV001100686

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

rs_150046934

3 SubmittersRCV000948639 RCV001140323 RCV001139558 RCV004533633

NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys)

SNV
Germline

Chr2:27445949

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
Retinal dystrophy
IFT172-related disorder

Criteria Provided
Conflicting Classifications

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

rs_139560074

3 SubmittersRCV000945848 RCV002251536 RCV004553381

NM_001029883.3(PCARE):c.3395A>C (p.Glu1132Ala)

SNV
Germline

Chr2:29070867

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_78874550

2 SubmittersRCV000952490 RCV001136595

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

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
Retinitis pigmentosa
Leber congenital amaurosis 11
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_150531977

5 SubmittersRCV000951821 RCV001160000 RCV001159999 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

Criteria Provided
Conflicting Classifications

rs_143796089

3 SubmittersRCV000945885 RCV001165040 RCV001165039

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

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 12
Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder

Criteria Provided
Conflicting Classifications

rs_140428156

3 SubmittersRCV000964696 RCV001100639 RCV001100909 RCV001100910 RCV004543616

NM_201253.3(CRB1):c.2874C>T (p.Ser958=)

SNV
Germline

Chr1:197434737

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

rs_372778560

3 SubmittersRCV000964760 RCV001097541 RCV001097542 RCV001099305 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

Criteria Provided
Conflicting Classifications

rs_34943572

3 SubmittersRCV000964245 RCV001131836 RCV003890123

NM_201548.5(CERKL):c.102G>T (p.Thr34=)

SNV
Germline

Chr2:181656905

Conflicting classifications of pathogenicity

Retinitis pigmentosa 26
Condition: not provided
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

rs_149346187

5 SubmittersRCV001271351 RCV000963268 RCV001138254 RCV001700953

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

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

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

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
Retinitis pigmentosa and erythrocytic microcytosis
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
TRNT1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

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

rs_140027620

3 SubmittersRCV000969187 RCV001150810 RCV001150811 RCV001150812 RCV001150809 RCV004535951

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

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

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

rs_61753611

7 SubmittersRCV000971526 RCV001162939 RCV001000461

NM_002900.3(RBP3):c.2856T>C (p.Tyr952=)

SNV
Germline

Chr10:47351340

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370173809

2 SubmittersRCV001105544 RCV000963252

NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)

SNV
Germline

Chr1:68431560

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa
Retinal dystrophy
RPE65-related disorder

Criteria Provided
Conflicting Classifications

rs_201379753

4 SubmittersRCV000884725 RCV001098673 RCV001098674 RCV003890011 RCV004530925

NM_000541.5(SAG):c.231C>T (p.Asp77=)

SNV
Germline

Chr2:233320679

Conflicting classifications of pathogenicity

Oguchi disease
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_79922016

2 SubmittersRCV001137317 RCV001137318 RCV000892539

NM_000541.5(SAG):c.374C>T (p.Thr125Met)

SNV
Germline

Chr2:233320822

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_137886124

2 SubmittersRCV000893362 RCV001139557

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

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

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

Criteria Provided
Conflicting Classifications

rs_184644658

4 SubmittersRCV000887335 RCV001136693 RCV003890015

NM_001201543.2(FAM161A):c.817G>A (p.Glu273Lys)

SNV
Germline

Chr2:61840187

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 28

Criteria Provided
Conflicting Classifications

rs_6733774

3 SubmittersRCV001138426 RCV000888451 RCV001274724

NM_006017.3(PROM1):c.714A>G (p.Gly238=)

SNV
Germline

Chr4:16023396

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201662148

3 SubmittersRCV000890690 RCV001000892 RCV001147062 RCV001147060 RCV001147061 RCV001147063

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

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
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_183814213

6 SubmittersRCV000882507 RCV001274985 RCV001162838

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

rs_373183802

3 SubmittersRCV000888244 RCV001161513 RCV001279311

NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=)

SNV
Germline

Chr7:128394482

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 11
not specified

Criteria Provided
Conflicting Classifications

rs_201803921

4 SubmittersRCV001164811 RCV000883210 RCV001164810 RCV001701347

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

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

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

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

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

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
DHDDS-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_141852437

8 SubmittersRCV000904699 RCV001099449 RCV001355627 RCV001532941 RCV002540223 RCV003932889 RCV003890042

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

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
Retinitis pigmentosa
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_61740138

5 SubmittersRCV000903707 RCV001137877 RCV001701246 RCV003890040

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

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

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
Retinitis pigmentosa 28

Criteria Provided
Conflicting Classifications

rs_549784796

3 SubmittersRCV000903012 RCV001138010 RCV001274722

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

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

rs_193120038

3 SubmittersRCV000895938 RCV001145440 RCV003890027

NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys)

SNV
Germline

Chr4:658964

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
PDE6B-related disorder

Criteria Provided
Conflicting Classifications

rs_143908642

3 SubmittersRCV000895003 RCV001151136 RCV001151137 RCV004530995

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

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

Criteria Provided
Conflicting Classifications

rs_200696413

3 SubmittersRCV000903187 RCV001152640 RCV003890038

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

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

Criteria Provided
Conflicting Classifications

rs_148019592

5 SubmittersRCV000906578 RCV001164565 RCV001272975 RCV003958237

NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp)

SNV
Germline

Chr6:64590238

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_139822086

5 SubmittersRCV000898699 RCV001272983 RCV001161047

NM_001142800.2(EYS):c.4264A>T (p.Thr1422Ser)

SNV
Germline

Chr6:64591603

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200318120

5 SubmittersRCV000898700 RCV001274979 RCV001161169 RCV002540173

NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)

SNV
Germline

Chr6:64617516

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_374409854

6 SubmittersRCV000896805 RCV001164783 RCV001563745 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

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

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
Leber congenital amaurosis 11
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_139785999

2 SubmittersRCV000904634 RCV001164812 RCV001164813

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

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

Criteria Provided
Conflicting Classifications

rs_373417235

2 SubmittersRCV000896345 RCV001107520

NM_199355.4(ADAMTS18):c.3157C>T (p.Arg1053Trp)

SNV
Germline

Chr16:77293108

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Microcornea-myopic chorioretinal atrophy
ADAMTS18-related disorder

Criteria Provided
Conflicting Classifications

rs_148703569

6 SubmittersRCV000899321 RCV001593127 RCV003141892 RCV003910717

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

rs_764759588

2 SubmittersRCV000902968 RCV001127368

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

rs_141707567

3 SubmittersRCV000923293 RCV001097714 RCV001097715 RCV003970508

NM_000329.3(RPE65):c.783G>T (p.Leu261=)

SNV
Germline

Chr1:68439266

Conflicting classifications of pathogenicity

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa
Leber congenital amaurosis 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_188493184

4 SubmittersRCV000922726 RCV001275284 RCV001098759 RCV001098760 RCV003890070

NM_201548.5(CERKL):c.540A>G (p.Lys180=)

SNV
Germline

Chr2:181573826

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

rs_149505471

3 SubmittersRCV000927269 RCV001142999 RCV001271346

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

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

rs_145809648

3 SubmittersRCV000912740 RCV001153714

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

rs_745961740

2 SubmittersRCV000918023 RCV001162535

NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp)

SNV
Germline

Chr8:43196978

Conflicting classifications of pathogenicity

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

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

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

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

rs_376719585

2 SubmittersRCV000924997 RCV001165482

NM_014249.4(NR2E3):c.843C>T (p.Pro281=)

SNV
Germline

Chr15:71813484

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_555211505

4 SubmittersRCV000916154 RCV001119924 RCV001119923 RCV001275381 RCV003890063

NM_000329.3(RPE65):c.1338+8A>G

SNV
Germline

Chr1:68431274

Conflicting classifications of pathogenicity

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

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
Leber congenital amaurosis 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_547374432

4 SubmittersRCV000926497 RCV001100687 RCV001100688 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

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
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1571158279

7 SubmittersRCV000927801 RCV001074701 RCV001034696 RCV001068036 RCV001376263 RCV002279647 RCV003117646

NM_206933.4(USH2A):c.9906C>T (p.Asn3302=)

SNV
Germline

Chr1:215798959

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_757439664

4 SubmittersRCV000928362 RCV001330643 RCV001276954

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

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

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

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

rs_182812191

3 SubmittersRCV000929335 RCV001136591 RCV003890082

NM_006017.3(PROM1):c.1279T>C (p.Leu427=)

SNV
Germline

Chr4:16008971

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200710798

2 SubmittersRCV000935482 RCV001144916 RCV001144915 RCV001144917 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

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

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

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

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
Retinal dystrophy
Autosomal recessive retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_145274061

3 SubmittersRCV000940680 RCV001073827 RCV001274973

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

Criteria Provided
Conflicting Classifications

rs_76754818

6 SubmittersRCV000942122 RCV001162943 RCV001277017 RCV003890096 RCV003903137

NM_001142800.2(EYS):c.716C>T (p.Ala239Val)

SNV
Germline

Chr6:65494695

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_150140204

3 SubmittersRCV000933075 RCV001161508

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

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
Enhanced S-cone syndrome
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_375133059

3 SubmittersRCV000927870 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

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

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

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

rs_199560035

2 SubmittersRCV000945395 RCV001117274

NM_177965.4(CFAP418):c.155+8G>A

SNV
Germline

Chr8:95269027

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 16
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_377262548

2 SubmittersRCV000971378 RCV001169699 RCV001169698

NM_014249.4(NR2E3):c.349+7C>T

SNV
Germline

Chr15:71811876

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 37
Enhanced S-cone syndrome
NR2E3-related disorder

Criteria Provided
Conflicting Classifications

rs_900547

4 SubmittersRCV000969301 RCV001116841 RCV001116840 RCV001827055 RCV004543626

NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly)

SNV
Germline

Chr3:97788082

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Condition: not provided
ARL6-related disorder

Criteria Provided
Conflicting Classifications

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

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

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

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

No Assertion Criteria Provided

rs_561075447

2 SubmittersRCV000985170 RCV001257794

NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter)

SNV
Germline

Chr15:76705971

Likely pathogenic

Intellectual developmental disorder and retinitis pigmentosa
IDDRP

No Assertion Criteria Provided

rs_978336151

1 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

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

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

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_1571878277

3 SubmittersRCV000986486 RCV001858643 RCV003454997 RCV003454996

NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)

SNV
Germline

Chr1:197421461

Likely pathogenic

Leber congenital amaurosis 1
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

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
Condition: not provided
not specified
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

rs_1450635782

5 SubmittersRCV000986496 RCV001824163 RCV001726405 RCV003331014 RCV001858644

NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)

SNV
Germline

Chr1:197442248

Likely pathogenic

Leber congenital amaurosis 1
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_62635649

6 SubmittersRCV000986497 RCV001809876 RCV002489456 RCV003455006 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

Criteria Provided
Conflicting Classifications

rs_201513512

6 SubmittersRCV000986514 RCV001041834 RCV001074615 RCV001328877

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

Criteria Provided
Conflicting Classifications

rs_1416602859

4 SubmittersRCV000986523 RCV001247865 RCV003473529

NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)

SNV
Germline

Chr1:215888717

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1571783742

9 SubmittersRCV000986528 RCV001075207 RCV001381632 RCV002503145 RCV003455007 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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1415484067

4 SubmittersRCV000986548 RCV001869337 RCV003467540

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

rs_1571158755

2 SubmittersRCV000986327 RCV001858636

NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)

SNV
Germline

Chr1:68440936

Pathogenic

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

Reviewed By Expert Panel

rs_752058510

7 SubmittersRCV000986330 RCV001219364 RCV001585895 RCV002255100 RCV003324538 RCV003769292 RCV003324537

NM_006343.3(MERTK):c.1296+1G>C

SNV
Unknown

Chr2:111982994

Pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

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

rs_778383770

1 SubmittersRCV000986797

NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys)

SNV
Germline

Chr2:112028394

Pathogenic

Retinitis pigmentosa 38
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_746291728

4 SubmittersRCV000986798 RCV001389819

NM_201548.5(CERKL):c.356G>A (p.Gly119Asp)

SNV
Germline

Chr2:181603962

Pathogenic/Likely pathogenic

Retinitis pigmentosa 26
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1003615909

5 SubmittersRCV000986951 RCV001203143

NM_014014.5(SNRNP200):c.2183G>T (p.Arg728Leu)

SNV
Unknown

Chr2:96291878

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1477839027

1 SubmittersRCV000986790

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

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

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

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

rs_371288618

1 SubmittersRCV000987331

NM_000539.3(RHO):c.937-2A>T

SNV
Unknown

Chr3:129533606

Pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

rs_1578281565

1 SubmittersRCV000987332

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

rs_1578281706

2 SubmittersRCV000987333 RCV001378537

NM_006017.3(PROM1):c.1984-1G>T

SNV
Germline

Chr4:15989825

Pathogenic

Retinitis pigmentosa 41
Condition: not provided
Cone-rod dystrophy
Leber congenital amaurosis
Stargardt disease
PROM1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_373680665

6 SubmittersRCV000987420 RCV001049161 RCV003324540 RCV003324541 RCV002467454 RCV004536013

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

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

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

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

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

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

rs_375659222

1 SubmittersRCV000987615

NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)

SNV
Germline

Chr6:35506071

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Condition: not provided
Retinitis pigmentosa 14
not specified

Criteria Provided
Conflicting Classifications

rs_373519519

4 SubmittersRCV000987688 RCV001301120 RCV001809877 RCV002271603

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

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

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

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

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

rs_928803207

6 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

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

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
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
not specified
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_779010679

5 SubmittersRCV000988892 RCV001075119 RCV001210117 RCV003317407 RCV003324546

NM_001297.5(CNGB1):c.1958-1G>A

SNV
Germline

Chr16:57917477

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 45
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_888090139

4 SubmittersRCV000989611 RCV001073842 RCV002250710 RCV001858711

NM_001297.5(CNGB1):c.1122-2A>T

SNV
Unknown

Chr16:57940323

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

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

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

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

rs_1439576531

2 SubmittersRCV000991050 RCV001858731

NM_015629.4(PRPF31):c.322+1G>A

SNV
Unknown

Chr19:54121944

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

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

rs_764232082

2 SubmittersRCV000991055 RCV001075718

NM_015629.4(PRPF31):c.856-1G>A

SNV
Unknown

Chr19:54126527

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1600350656

1 SubmittersRCV000991056

NM_001034853.2(RPGR):c.2185G>T (p.Glu729Ter)

SNV
Unknown

ChrX:38286814

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1601923813

1 SubmittersRCV000990773

NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter)

SNV
Germline

ChrX:38286976

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

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

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

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

rs_1601978925

1 SubmittersRCV000990781

NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp)

SNV
Germline

ChrX:38322906

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1601982532

2 SubmittersRCV000990782 RCV001387577

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

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

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
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

rs_775075094

4 SubmittersRCV000993537 RCV002481758 RCV001827140

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

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

rs_149652495

4 SubmittersRCV000994139 RCV001097513 RCV001074915 RCV001097512

NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr)

SNV
Germline

Chr1:197429459

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_1571544334

4 SubmittersRCV000994218 RCV001199673 RCV003769329 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

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
Usher syndrome type 2A
Retinitis pigmentosa 39
USH2A-related disorder

Criteria Provided
Conflicting Classifications

rs_550096037

6 SubmittersRCV000994244 RCV001074070 RCV001827144 RCV003455025 RCV004544995

NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val)

SNV
Germline

Chr1:216073279

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_760543320

2 SubmittersRCV000994249 RCV001199800

NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys)

SNV
Germline

Chr1:216323493

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

rs_767209934

3 SubmittersRCV000994252 RCV003467553

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

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

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

rs_1574001405

2 SubmittersRCV000997186 RCV001199555

NM_006017.3(PROM1):c.1142-1G>A

SNV
Germline

Chr4:16009109

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_752619497

6 SubmittersRCV000998228 RCV001075075 RCV001352977 RCV002497313 RCV003987756

NM_006017.3(PROM1):c.677C>T (p.Ala226Val)

SNV
Germline

Chr4:16024312

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_376198840

3 SubmittersRCV001149511 RCV000998230 RCV001147961 RCV001147962 RCV001147963

NM_000440.3(PDE6A):c.1610T>C (p.Ile537Thr)

SNV
Germline

Chr5:149896366

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1581177868

2 SubmittersRCV001199493 RCV000998466

NM_000440.3(PDE6A):c.743T>A (p.Val248Asp)

SNV
Germline

Chr5:149931143

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1581209421

2 SubmittersRCV001199498 RCV000998467

NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)

SNV
Germline

Chr6:63778093

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

rs_368798160

9 SubmittersRCV000998641 RCV001075538 RCV001832315

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

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

rs_201970559

3 SubmittersRCV000995161 RCV001112200

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

rs_1600360827

2 SubmittersRCV000997011 RCV001199733

NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter)

SNV
Germline

ChrX:38285626

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_1601917052

3 SubmittersRCV000999390 RCV001199554 RCV003890153

NM_001034853.2(RPGR):c.2410A>T (p.Arg804Ter)

SNV
Germline

ChrX:38286589

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1601922877

2 SubmittersRCV001199538 RCV000999393

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

rs_1589590737

2 SubmittersRCV001003069 RCV001030780

NM_000329.3(RPE65):c.1129-14A>G

SNV
Germline

Chr1:68431599

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 2
Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Conflicting Classifications

rs_113329701

3 SubmittersRCV001000947 RCV001100472 RCV001100473 RCV001520770

NM_006343.3(MERTK):c.1450+2T>G

SNV
Germline

Chr2:111994406

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1424131846

4 SubmittersRCV001001281 RCV001041691 RCV001265198

NM_000539.3(RHO):c.1021G>A (p.Glu341Lys)

SNV
Germline

Chr3:129533692

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 4

Criteria Provided
Conflicting Classifications

rs_142322202

5 SubmittersRCV001002602 RCV001073614 RCV001213688 RCV001265168

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

Criteria Provided
Conflicting Classifications

rs_143494598

4 SubmittersRCV001000795 RCV001163128 RCV001301603

NM_001297.5(CNGB1):c.2958C>T (p.Asn986=)

SNV
Germline

Chr16:57901370

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 45
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_543509332

3 SubmittersRCV001121638 RCV001000399 RCV001425605

NM_004698.4(PRPF3):c.1285G>T (p.Asp429Tyr)

SNV
Germline

Chr1:150343311

Pathogenic

Retinitis pigmentosa 18

Criteria Provided
Single Submitter

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

rs_1582139965

1 SubmittersRCV001002721

NM_201253.3(CRB1):c.424G>T (p.Gly142Ter)

SNV
Germline

Chr1:197328775

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1571848659

1 SubmittersRCV001002987

NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)

SNV
Germline

Chr1:197328806

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1571848744

4 SubmittersRCV001002988 RCV001074569 RCV001377780 RCV003455043 RCV003455044

NM_201253.3(CRB1):c.1667T>C (p.Leu556Pro)

SNV
Germline

Chr1:197421495

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1571524269

1 SubmittersRCV001002991

NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)

SNV
Germline

Chr1:197421561

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

rs_1266363944

3 SubmittersRCV001002992 RCV001376464 RCV002549196

NM_201253.3(CRB1):c.1844G>T (p.Gly615Val)

SNV
Germline

Chr1:197421672

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_768905244

5 SubmittersRCV001002993 RCV003455045 RCV003455046 RCV001593178 RCV001860526

NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp)

SNV
Germline

Chr1:197427823

Pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1571540258

4 SubmittersRCV001002995 RCV001250627 RCV001862718

NM_201253.3(CRB1):c.3991C>G (p.Arg1331Gly)

SNV
Germline

Chr1:197442278

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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

Criteria Provided
Conflicting Classifications

rs_746837034

5 SubmittersRCV001003252 RCV001240871 RCV001836060 RCV003461305

NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn)

SNV
Germline

Chr1:215782049

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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

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

rs_768158580

1 SubmittersRCV001003276

NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)

SNV
Germline

Chr1:216247098

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_368687374

10 SubmittersRCV001003278 RCV001073915 RCV001040831 RCV001832324 RCV003455049 RCV003226415 RCV002489511

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

Criteria Provided
Conflicting Classifications

rs_754564043

4 SubmittersRCV001003005 RCV001862719 RCV002481804 RCV003890158

NM_000329.3(RPE65):c.722A>T (p.His241Leu)

SNV
Germline

Chr1:68439564

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1557600322

1 SubmittersRCV001003187

NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter)

SNV
Germline

Chr2:29070973

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_369937337

3 SubmittersRCV001002900 RCV001205031

NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter)

SNV
Germline

Chr2:29071312

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

rs_774215025

2 SubmittersRCV001002901 RCV001860523

NM_001201543.2(FAM161A):c.1751G>A (p.Arg584Lys)

SNV
Germline

Chr2:61838538

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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

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

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

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

rs_377600857

4 SubmittersRCV001003107 RCV001809893 RCV002549200

NM_144499.3(GNAT1):c.460G>T (p.Asp154Tyr)

SNV
Germline

Chr3:50193763

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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

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

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

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

rs_1581738478

1 SubmittersRCV001003240

NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys)

SNV
Germline

Chr6:35505806

Pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_763272975

4 SubmittersRCV001003241 RCV001073990 RCV001093078

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

rs_375978676

2 SubmittersRCV001003145 RCV001530230

NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)

SNV
Germline

Chr6:42721817

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_61755794

4 SubmittersRCV001003146 RCV001379736 RCV001530227 RCV002250712

NM_001142800.2(EYS):c.9329G>C (p.Gly3110Ala)

SNV
Germline

Chr6:63720702

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1582139184

1 SubmittersRCV001003009

NM_001142800.2(EYS):c.8167C>T (p.Gln2723Ter)

SNV
Germline

Chr6:63726585

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1168129071

1 SubmittersRCV001003014

NM_001142800.2(EYS):c.3715G>T (p.Glu1239Ter)

SNV
Germline

Chr6:64593279

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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

rs_1584728115

1 SubmittersRCV001003054

NM_006269.2(RP1):c.688G>T (p.Gly230Ter)

SNV
Germline

Chr8:54622189

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

rs_149862950

5 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

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

Criteria Provided
Conflicting Classifications

rs_1286857064

3 SubmittersRCV001002974 RCV001326652 RCV003331019

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

rs_1028371920

5 SubmittersRCV001002975 RCV001039446 RCV002497323

NM_014003.4(DHX38):c.2329C>T (p.Pro777Ser)

SNV
Germline

Chr16:72105298

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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

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

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

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

rs_1601923388

1 SubmittersRCV001003196

NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter)

SNV
Germline

ChrX:38286826

Pathogenic

Retinitis pigmentosa
Primary ciliary dyskinesia
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_907856232

3 SubmittersRCV001003198 RCV002549203 RCV003329357

NM_001034853.2(RPGR):c.1334C>G (p.Ser445Ter)

SNV
Germline

ChrX:38297364

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1601940608

1 SubmittersRCV001003200

NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg)

SNV
Germline

ChrX:38317343

Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

rs_1601972255

3 SubmittersRCV001003204 RCV001251549 RCV002549204

NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp)

SNV
Germline

ChrX:38317441

Likely pathogenic

Retinitis pigmentosa
X-linked cone-rod dystrophy 1

Criteria Provided
Single Submitter

rs_1601972449

2 SubmittersRCV001003205 RCV001809894

NM_001034853.2(RPGR):c.259G>T (p.Glu87Ter)

SNV
Germline

ChrX:38321078

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1601978991

1 SubmittersRCV001003206

NM_201253.3(CRB1):c.4005+1G>A

SNV
Germline

Chr1:197442293

Pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_890453675

5 SubmittersRCV001003000 RCV001250622 RCV002549197

NM_201548.5(CERKL):c.238+1G>A

SNV
Germline

Chr2:181656768

Pathogenic

Retinitis pigmentosa
Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

rs_1276597208

6 SubmittersRCV001002943 RCV001034731 RCV001257879 RCV001832323

NM_000283.4(PDE6B):c.1921-9C>G

SNV
Germline

Chr4:663761

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

rs_1577301137

2 SubmittersRCV001003116 RCV001208611

NM_000440.3(PDE6A):c.2506+1G>A

SNV
Germline

Chr5:149863118

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1561671507

1 SubmittersRCV001003109

NM_015072.5(TTLL5):c.2136+1G>A

SNV
Germline

Chr14:75771855

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1595009158

1 SubmittersRCV001003237

NM_012106.4(ARL2BP):c.38+2T>G

SNV
Germline

Chr16:57245407

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_1597951232

1 SubmittersRCV001002869

NM_015629.4(PRPF31):c.697+1G>A

SNV
Germline

Chr19:54123919

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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

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

rs_1601931052

2 SubmittersRCV001003199 RCV002551700

NM_006915.3(RP2):c.102+1G>T

SNV
Germline

ChrX:46837203

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

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
Condition: not provided
Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

Criteria Provided
Conflicting Classifications

rs_559623184

7 SubmittersRCV001003627 RCV001138967 RCV001772184 RCV002479198

NM_004698.4(PRPF3):c.1496A>C (p.His499Pro)

SNV
Germline

Chr1:150344231

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1658062720

1 SubmittersRCV001199729

NM_201253.3(CRB1):c.1171+2T>G

SNV
Germline

Chr1:197357015

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1660519681

1 SubmittersRCV001199679

NM_201253.3(CRB1):c.3934T>A (p.Cys1312Ser)

SNV
Germline

Chr1:197442221

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_754834155

4 SubmittersRCV001199585 RCV001376437 RCV003455052

NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter)

SNV
Germline

Chr1:215647663

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_948087886

3 SubmittersRCV001199787 RCV001381927 RCV003455058

NM_206933.4(USH2A):c.13804T>C (p.Phe4602Leu)

SNV
Germline

Chr1:215674107

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

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

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

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

rs_1657992030

1 SubmittersRCV001199574

NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe)

SNV
Germline

Chr1:215741387

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1386612395

1 SubmittersRCV001199572

NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu)

SNV
Germline

Chr1:215741426

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1660298900

1 SubmittersRCV001199571

NM_206933.4(USH2A):c.11129G>A (p.Gly3710Asp)

SNV
Germline

Chr1:215759762

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

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

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

rs_1664490756

1 SubmittersRCV001199808

NM_206933.4(USH2A):c.7040T>A (p.Val2347Glu)

SNV
Germline

Chr1:215965397

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1667316070

1 SubmittersRCV001199806

NM_206933.4(USH2A):c.6835G>T (p.Asp2279Tyr)

SNV
Germline

Chr1:215970747

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1421761057

1 SubmittersRCV001199805

NM_206933.4(USH2A):c.4628-2A>G

SNV
Germline

Chr1:216097215

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_2032462132

3 SubmittersRCV001064231 RCV001199580 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

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

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

rs_2036149054

2 SubmittersRCV001199790 RCV003558634

NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)

SNV
Germline

Chr1:68429927

Pathogenic

Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

rs_62653015

3 SubmittersRCV001199757 RCV003769401 RCV004527406

NM_000350.3(ABCA4):c.4848+2T>A

SNV
Germline

Chr1:94021638

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_1659900155

2 SubmittersRCV001091943 RCV001199630

NM_006343.3(MERTK):c.2507G>A (p.Cys836Tyr)

SNV
Germline

Chr2:112028371

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1677512620

1 SubmittersRCV001199706

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

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

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

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

rs_771467567

2 SubmittersRCV001199782 RCV002549232

NM_016247.4(IMPG2):c.501+5G>A

SNV
Germline

Chr3:101304141

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_1404077542

2 SubmittersRCV001199486 RCV001074072

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

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

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

rs_749990018

2 SubmittersRCV001199459 RCV002551708

NM_001379270.1(CNGA1):c.1121T>C (p.Val374Ala)

SNV
Germline

Chr4:47937361

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 49
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765792753

3 SubmittersRCV001199458 RCV001376522 RCV002551707

NM_001379270.1(CNGA1):c.1093C>A (p.Pro365Thr)

SNV
Germline

Chr4:47937389

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_867483436

1 SubmittersRCV001199457

NM_001379270.1(CNGA1):c.1028G>C (p.Arg343Thr)

SNV
Germline

Chr4:47937454

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_752003888

1 SubmittersRCV001199456

NM_000283.4(PDE6B):c.1390C>T (p.Gln464Ter)

SNV
Germline

Chr4:657483

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 40

Criteria Provided
Single Submitter

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

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

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

rs_371911345

3 SubmittersRCV001199504 RCV001322860 RCV002549228

NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly)

SNV
Germline

Chr4:663852

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 40

Criteria Provided
Single Submitter

rs_1737442897

1 SubmittersRCV001199505 RCV001293404

NM_000440.3(PDE6A):c.38T>A (p.Leu13Gln)

SNV
Germline

Chr5:149944636

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

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

rs_1768754157

2 SubmittersRCV001199562 RCV001860544

NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter)

SNV
Germline

Chr6:42704540

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_986748364

7 SubmittersRCV001073873 RCV001199523 RCV001202274 RCV001093085 RCV001250377

NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)

SNV
Germline

Chr6:63864186

Conflicting classifications of pathogenicity

Central areolar choroidal dystrophy
Condition: not provided
Retinitis pigmentosa 25
not specified

Criteria Provided
Conflicting Classifications

rs_915505702

4 SubmittersRCV001199689 RCV001229450 RCV001832325 RCV003317412

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

rs_1769471082

3 SubmittersRCV001199686 RCV001268164

NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter)

SNV
Germline

Chr6:64590454

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1766367970

2 SubmittersRCV001199684 RCV002275181

NM_001142800.2(EYS):c.3243+1G>A

SNV
Germline

Chr6:64821644

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1300490966

8 SubmittersRCV001199810 RCV001832326 RCV001862733 RCV003890163

NM_001142800.2(EYS):c.749-1G>C

SNV
Germline

Chr6:65490708

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_368159852

6 SubmittersRCV001035502 RCV001074982 RCV001199690 RCV002505535

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

rs_1238921380

2 SubmittersRCV001199478 RCV001306605

NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro)

SNV
Germline

Chr7:128409831

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_946898300

3 SubmittersRCV001158325 RCV001305635 RCV001158326

NM_006269.2(RP1):c.615+1G>A

SNV
Germline

Chr8:54621582

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_886210482

1 SubmittersRCV001199751

NM_006269.2(RP1):c.2113A>T (p.Lys705Ter)

SNV
Germline

Chr8:54625995

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1806033844

1 SubmittersRCV001199747

NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter)

SNV
Germline

Chr8:99121218

Pathogenic

Retinitis pigmentosa
Cohen syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1205613982

2 SubmittersRCV001199600 RCV001860546

NM_152564.5(VPS13B):c.8037C>G (p.Tyr2679Ter)

SNV
Germline

Chr8:99809470

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_777019428

1 SubmittersRCV001199599

NM_002900.3(RBP3):c.467G>C (p.Trp156Ser)

SNV
Germline

Chr10:47348951

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1555210929

1 SubmittersRCV001199531

NM_002900.3(RBP3):c.3050T>A (p.Met1017Lys)

SNV
Germline

Chr10:47351534

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

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

rs_1856758582

2 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

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

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

rs_745934202

4 SubmittersRCV001074576 RCV001092316 RCV001199559

NM_014249.4(NR2E3):c.406G>T (p.Glu136Ter)

SNV
Germline

Chr15:71812011

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1257334132

4 SubmittersRCV001073492 RCV001199716 RCV001091351

NM_014249.4(NR2E3):c.563C>G (p.Pro188Arg)

SNV
Germline

Chr15:71812168

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_2054189787

1 SubmittersRCV001199487

NM_014249.4(NR2E3):c.994G>C (p.Glu332Gln)

SNV
Germline

Chr15:71813635

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_2054205040

2 SubmittersRCV001091352 RCV001199488

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

rs_1360391558

2 SubmittersRCV001071854 RCV001199516

NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys)

SNV
Germline

Chr17:1655534

Conflicting classifications of pathogenicity

Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_1911322255

2 SubmittersRCV001199515

NM_001077620.3(PRCD):c.73C>A (p.Pro25Thr)

SNV
Germline

Chr17:76540214

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_2074970792

1 SubmittersRCV001199722

NM_015629.4(PRPF31):c.539C>A (p.Ser180Ter)

SNV
Germline

Chr19:54123760

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1411470197

1 SubmittersRCV001199738

NM_015629.4(PRPF31):c.1074-2A>G

SNV
Germline

Chr19:54128303

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1314226094

2 SubmittersRCV001199514 RCV002279705

NM_015629.4(PRPF31):c.1141G>T (p.Gly381Ter)

SNV
Germline

Chr19:54128372

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_2073971805

1 SubmittersRCV001199732

NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter)

SNV
Germline

ChrX:38285950

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_2067127275

3 SubmittersRCV001090910 RCV001199551

NM_001034853.2(RPGR):c.2461G>T (p.Glu821Ter)

SNV
Germline

ChrX:38286538

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_2067180233

1 SubmittersRCV001199541

NM_001034853.2(RPGR):c.2123A>G (p.Glu708Gly)

SNV
Germline

ChrX:38286876

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_2067192032

1 SubmittersRCV001199534

NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter)

SNV
Germline

ChrX:38286916

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_2067193671

2 SubmittersRCV001091407 RCV001199533

NM_001034853.2(RPGR):c.935-1G>T

SNV
Germline

ChrX:38301372

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_2067562201

1 SubmittersRCV001199763

NM_001034853.2(RPGR):c.602A>T (p.His201Leu)

SNV
Germline

ChrX:38317333

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_2067845149

1 SubmittersRCV001199762

NM_001034853.2(RPGR):c.389T>C (p.Phe130Ser)

SNV
Germline

ChrX:38318909

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_62638644

1 SubmittersRCV001199761

NM_001034853.2(RPGR):c.154+1G>A

SNV
Germline

ChrX:38323398

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2067985165

2 SubmittersRCV001199766 RCV002275202

NM_001034853.2(RPGR):c.29-1G>T

SNV
Germline

ChrX:38323525

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_2067987832

4 SubmittersRCV001092674 RCV001074324 RCV001199767

NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)

SNV
Germline

Chr1:215728342

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1358947010

5 SubmittersRCV001004144 RCV001383730 RCV002489513 RCV003455060

NM_014014.5(SNRNP200):c.2438C>T (p.Ala813Val)

SNV
Germline

Chr2:96290799

Likely pathogenic

Retinitis pigmentosa 33

Criteria Provided
Single Submitter

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 2
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

rs_778543585

3 SubmittersRCV001005003 RCV001832327 RCV001061887

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_202024173

4 SubmittersRCV001008014 RCV001213870 RCV003458171

NM_000539.3(RHO):c.571T>A (p.Tyr191Asn)

SNV
Unknown

Chr3:129532291

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

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

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

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

rs_1572879569

3 SubmittersRCV001027886 RCV003727839

NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)

SNV
Germline

Chr6:35506101

Pathogenic

Retinitis pigmentosa 14
Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 15
Abnormality of the eye
Autosomal recessive retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_201070350

8 SubmittersRCV001028029 RCV001054314 RCV001251337 RCV001255925 RCV001814258 RCV001257786

NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)

SNV
Germline

Chr1:68440879

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

rs_768445391

4 SubmittersRCV001073324 RCV001208105 RCV001836068 RCV001029769

NM_201548.5(CERKL):c.677+547G>A

SNV
Germline

Chr2:181565511

Likely pathogenic

Retinitis pigmentosa 26
Condition: not provided

Criteria Provided
Single Submitter

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

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

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

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

rs_777893794

2 SubmittersRCV001029902

NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter)

SNV
Germline

Chr15:89210741

Pathogenic/Likely pathogenic

Pigmentary retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_151141842

4 SubmittersRCV001029758 RCV001318325 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

Criteria Provided
Conflicting Classifications

rs_373190681

4 SubmittersRCV001034143 RCV001100845 RCV001100844 RCV001375204

NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)

SNV
Germline

Chr1:216323585

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200981928

8 SubmittersRCV001034413 RCV001097359 RCV001097358 RCV001593193 RCV002552058

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

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
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_201203400

4 SubmittersRCV001033963 RCV001118431 RCV002552046 RCV001074214

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

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

Criteria Provided
Single Submitter

rs_1658688864

1 SubmittersRCV001047854

NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter)

SNV
Germline

Chr1:197356978

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_748175297

1 SubmittersRCV001044718

NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)

SNV
Germline

Chr1:197427625

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1451348539

5 SubmittersRCV001042149 RCV001074779 RCV001827256 RCV003455170 RCV003455172 RCV003455171

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

Criteria Provided
Conflicting Classifications

rs_1664678030

2 SubmittersRCV001038213 RCV001376351

NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)

SNV
Germline

Chr1:197434877

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Leber congenital amaurosis 8
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_369184026

6 SubmittersRCV001049924 RCV001073588 RCV001250611 RCV001832464 RCV003455213 RCV003455212

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

rs_1665086143

1 SubmittersRCV001058927

NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe)

SNV
Germline

Chr1:197435351

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_768713412

2 SubmittersRCV001049160 RCV003473638

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

rs_1665487563

3 SubmittersRCV001044149 RCV001531025 RCV003455181 RCV003455182

NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln)

SNV
Germline

Chr1:197477865

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1667269806

2 SubmittersRCV001065861 RCV003473688

NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)

SNV
Germline

Chr1:215671067

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1657798642

3 SubmittersRCV001055885 RCV001075003 RCV003455253

NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys)

SNV
Germline

Chr1:215674428

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_746221227

3 SubmittersRCV001047311 RCV002497387 RCV001827299

NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)

SNV
Germline

Chr1:215674778

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_570277510

6 SubmittersRCV001043922 RCV001073415 RCV001805991 RCV001272944 RCV003160314

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

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

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
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_201951918

5 SubmittersRCV001057430 RCV001271139 RCV002482019 RCV003455257 RCV003890203

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_750321557

4 SubmittersRCV001060442 RCV003455273 RCV003467808

NM_206933.4(USH2A):c.9441G>A (p.Trp3147Ter)

SNV
Germline

Chr1:215817126

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1662880750

2 SubmittersRCV001061745 RCV003473680

NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)

SNV
Germline

Chr1:215879090

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1424639717

5 SubmittersRCV001052468 RCV001075376 RCV003455228 RCV004528359 RCV003455229

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_769609970

3 SubmittersRCV001051415 RCV001073838 RCV003455223

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_201529124

8 SubmittersRCV001067861 RCV001376322 RCV002282450 RCV003455294

NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter)

SNV
Germline

Chr1:216250924

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1364987785

3 SubmittersRCV001058203 RCV003473664 RCV002307669

NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)

SNV
Germline

Chr1:68431070

Conflicting classifications of pathogenicity

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749242996

2 SubmittersRCV001054425 RCV001559438

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

Reviewed By Expert Panel

rs_34627040

4 SubmittersRCV001054822 RCV001250697 RCV001827346 RCV004527410

NM_000329.3(RPE65):c.507C>A (p.Cys169Ter)

SNV
Germline

Chr1:68440989

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

rs_1645898563

1 SubmittersRCV001039691

NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)

SNV
Germline

Chr1:94014620

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1188515677

3 SubmittersRCV001040976 RCV001270350 RCV002479263

NM_006343.3(MERTK):c.98C>T (p.Pro33Leu)

SNV
Germline

Chr2:111929156

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_144751432

2 SubmittersRCV001059261 RCV001136136

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

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

Criteria Provided
Conflicting Classifications

rs_55924349

2 SubmittersRCV001055389 RCV001131965

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

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

rs_139300604

5 SubmittersRCV001060318 RCV001075763 RCV001836101

NM_201548.5(CERKL):c.98T>G (p.Leu33Ter)

SNV
Germline

Chr2:181656909

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_769632183

3 SubmittersRCV001041839 RCV001074956 RCV002239323

NM_144631.6(ZNF513):c.395G>C (p.Cys132Ser)

SNV
Germline

Chr2:27378871

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
not specified
ZNF513-related disorder

Criteria Provided
Conflicting Classifications

rs_184500376

5 SubmittersRCV001054262 RCV001140879 RCV004031707 RCV003906159

NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)

SNV
Germline

Chr2:27445404

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

rs_529850410

3 SubmittersRCV001046318 RCV002479285 RCV004553583

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
Retinal dystrophy
IFT172-related disorder

Criteria Provided
Conflicting Classifications

rs_184506506

4 SubmittersRCV001044874 RCV001550209 RCV003890180 RCV004553578

NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)

SNV
Germline

Chr2:27454019

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
not specified
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Asphyxiating thoracic dystrophy 1
Retinitis pigmentosa 71
Inborn genetic diseases
IFT172-related disorder

Criteria Provided
Conflicting Classifications

rs_141440865

7 SubmittersRCV001038571 RCV001819745 RCV002489555 RCV001585938 RCV003483758 RCV004031075 RCV004553570

NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)

SNV
Germline

Chr2:27456614

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_76076247

5 SubmittersRCV001057892 RCV003890205 RCV002505617 RCV004031826 RCV004547963

NM_015662.3(IFT172):c.1523G>A (p.Arg508His)

SNV
Germline

Chr2:27472251

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

rs_144868723

5 SubmittersRCV001053472 RCV002553321 RCV003890196 RCV004553592

NM_015662.3(IFT172):c.1444G>A (p.Val482Ile)

SNV
Germline

Chr2:27472330

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_771104054

3 SubmittersRCV001055460 RCV002482000 RCV002554386

NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)

SNV
Germline

Chr2:27477229

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
Condition: not provided
IFT172-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_367930028

7 SubmittersRCV001054271 RCV002468131 RCV002553339 RCV002291713 RCV004553596 RCV003151274

NM_015662.3(IFT172):c.235A>G (p.Thr79Ala)

SNV
Germline

Chr2:27485079

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

Criteria Provided
Conflicting Classifications

rs_752069515

4 SubmittersRCV001037389 RCV002479241 RCV004031029 RCV004553568

NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter)

SNV
Germline

Chr2:29070658

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 54

Criteria Provided
Multiple Submitters
No Conflicts

rs_748396645

4 SubmittersRCV001041302 RCV001074821 RCV001542737

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

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

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

rs_769445913

2 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

rs_1673040470

2 SubmittersRCV001069567 RCV003462612

NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr)

SNV
Germline

Chr2:96291454

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 33

Criteria Provided
Multiple Submitters
No Conflicts

rs_2063883437

4 SubmittersRCV001069774 RCV003890226 RCV003127619

NM_014014.5(SNRNP200):c.1634G>A (p.Arg545His)

SNV
Germline

Chr2:96296573

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 33

Criteria Provided
Conflicting Classifications

rs_2063918355

2 SubmittersRCV001041316 RCV001352976

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

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
Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa 4
Pigmentary retinal dystrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_144317206

3 SubmittersRCV001067390 RCV002482112 RCV003890221

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

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

rs_2084776365

2 SubmittersRCV001061969 RCV001265190

NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)

SNV
Germline

Chr4:15567713

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93
Neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_760676442

5 SubmittersRCV001041856 RCV001280749 RCV002489573 RCV002276597

NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)

SNV
Germline

Chr4:16009098

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201748228

3 SubmittersRCV001044541 RCV001145008 RCV001151119 RCV001151120 RCV001151121

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

Criteria Provided
Conflicting Classifications

rs_144590560

2 SubmittersRCV001040277 RCV001156702 RCV001156703

NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter)

SNV
Germline

Chr4:653950

Pathogenic

Condition: not provided
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa
See cases

Criteria Provided
Multiple Submitters
No Conflicts

rs_145605739

5 SubmittersRCV001061541 RCV001075156 RCV001257887 RCV001724224 RCV004584422

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

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

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

rs_779474710

2 SubmittersRCV001054297 RCV001151261 RCV001151262

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

rs_141252097

3 SubmittersRCV001040968 RCV001724216

NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro)

SNV
Germline

Chr6:42704534

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_61755810

3 SubmittersRCV001067304 RCV001250311 RCV001250312 RCV001530244

NM_000322.5(PRPH2):c.454A>G (p.Met152Val)

SNV
Germline

Chr6:42721881

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_146703538

4 SubmittersRCV001161385 RCV001162923 RCV001050346 RCV001530339 RCV001161384 RCV001161386 RCV001162922 RCV001162924 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

rs_948998853

4 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
not specified
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

rs_1161453292

5 SubmittersRCV001037096 RCV001073472 RCV002271614 RCV001827220

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

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

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
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1299355731

3 SubmittersRCV001037794 RCV003461437 RCV003890167

NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)

SNV
Germline

Chr6:63726645

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_184722374

7 SubmittersRCV001057875 RCV001073953 RCV001260371 RCV001784611

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

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

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

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

rs_1767601438

2 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

rs_1389794536

4 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

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

rs_781359405

4 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

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
Retinitis pigmentosa 25
not specified

Criteria Provided
Conflicting Classifications

rs_138255012

5 SubmittersRCV001059689 RCV001276909 RCV001809970 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

rs_1272549405

2 SubmittersRCV001064687 RCV003389484

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

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

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

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

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
Short-rib thoracic dysplasia 18 with polydactyly
Retinitis pigmentosa 81
Cranioectodermal dysplasia 3
not specified

Criteria Provided
Conflicting Classifications

rs_201692401

3 SubmittersRCV001053275 RCV002479324 RCV004031679

NM_014249.4(NR2E3):c.123G>A (p.Val41=)

SNV
Germline

Chr15:71811487

Conflicting classifications of pathogenicity

Condition: not provided
Goldmann-Favre syndrome
Enhanced S-cone syndrome
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_555860015

4 SubmittersRCV001049667 RCV001280213 RCV001118170 RCV001118171 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

Criteria Provided
Conflicting Classifications

rs_377257254

4 SubmittersRCV001046776 RCV001119921 RCV001118395

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

Criteria Provided
Conflicting Classifications

rs_145746065

3 SubmittersRCV001060475 RCV002489663 RCV003160485

NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr)

SNV
Germline

Chr16:1511128

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Inborn genetic diseases
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_202129528

4 SubmittersRCV001036582 RCV002552463 RCV002489544 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

Criteria Provided
Conflicting Classifications

rs_142668269

3 SubmittersRCV001064370 RCV002489684 RCV003243459

NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp)

SNV
Germline

Chr16:1520700

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

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
Inborn genetic diseases
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

rs_141471091

3 SubmittersRCV001053133 RCV002553308 RCV002481974

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

rs_568921640

3 SubmittersRCV001064320 RCV002489683 RCV002553955

NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln)

SNV
Germline

Chr16:1526004

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Inborn genetic diseases
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

rs_150498538

3 SubmittersRCV001053823 RCV002553329 RCV002481981

NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp)

SNV
Germline

Chr16:1566201

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_146480546

3 SubmittersRCV001057154 RCV002489647 RCV002553366

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

Criteria Provided
Conflicting Classifications

rs_149642543

3 SubmittersRCV001049333 RCV002479303 RCV002553199

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

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

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

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

rs_202174131

3 SubmittersRCV001054784 RCV001118430 RCV004031729

NM_001297.5(CNGB1):c.873C>A (p.Thr291=)

SNV
Germline

Chr16:57957342

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_181481207

2 SubmittersRCV001063597 RCV001118432

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

Criteria Provided
Conflicting Classifications

rs_138435590

4 SubmittersRCV001043787 RCV001593211 RCV002552537 RCV003141961

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

rs_144942685

2 SubmittersRCV001066628 RCV001376497

NM_201548.5(CERKL):c.1160-10T>G

SNV
Germline

Chr2:181547736

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 26
not specified

Criteria Provided
Conflicting Classifications

rs_771126203

3 SubmittersRCV001055759 RCV001277029 RCV002249663

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

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
Retinal dystrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

rs_766850702

7 SubmittersRCV001056224 RCV001074118 RCV001376226 RCV001197156 RCV003473660

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

rs_776014770

4 SubmittersRCV001060212 RCV001724222 RCV001265165

NM_001142800.2(EYS):c.6571+1G>A

SNV
Germline

Chr6:64081855

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_1193854376

4 SubmittersRCV001059361 RCV001724220 RCV001376419

NM_000440.3(PDE6A):c.998+1G>A

SNV
Germline

Chr5:149914942

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

rs_748946491

4 SubmittersRCV001060604 RCV001724223 RCV003225740

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

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

rs_576895229

2 SubmittersRCV001043784 RCV001155157 RCV001155158

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

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

rs_1769267226

3 SubmittersRCV001038182 RCV001075328 RCV003461438

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

rs_373232101

2 SubmittersRCV001044110 RCV002489581

NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)

SNV
Germline

Chr1:197328898

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1658691162

3 SubmittersRCV001074004 RCV001353026 RCV001862532

NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu)

SNV
Germline

Chr1:197356888

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

rs_148551147

2 SubmittersRCV001074490 RCV002069579

NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter)

SNV
Germline

Chr1:197356967

Pathogenic

Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1660515780

3 SubmittersRCV001075076 RCV002554741 RCV003455393 RCV003455395 RCV003455394

NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)

SNV
Germline

Chr1:197421176

Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_1664290387

3 SubmittersRCV001073402 RCV002554660 RCV003455314 RCV003455315 RCV003455313

NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)

SNV
Germline

Chr1:197421257

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_866822473

7 SubmittersRCV001075147 RCV001205896 RCV001257860 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
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_963201816

3 SubmittersRCV001075152 RCV002557921 RCV003455402 RCV003455404 RCV003455403

NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)

SNV
Germline

Chr1:197427822

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1664671663

3 SubmittersRCV001074122 RCV002554698 RCV003455343 RCV003455344 RCV003455345

NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)

SNV
Germline

Chr1:197435314

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558138741

3 SubmittersRCV001074865 RCV001862578 RCV003455381 RCV003455382 RCV003455380

NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)

SNV
Germline

Chr1:197435516

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_1450635782

3 SubmittersRCV001075199 RCV001862600 RCV003455406 RCV003455407 RCV003455405

NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)

SNV
Germline

Chr1:197442278

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760544654

6 SubmittersRCV001073526 RCV001092289 RCV001378742 RCV001696228 RCV003455324 RCV003455325 RCV003455326

NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)

SNV
Germline

Chr1:215648741

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_149807281

6 SubmittersRCV001073804 RCV001245666 RCV001376409 RCV001828535 RCV002557899

NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)

SNV
Germline

Chr1:215674344

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_746442849

3 SubmittersRCV001073309 RCV001862801 RCV003455311 RCV003455312

NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter)

SNV
Germline

Chr1:215675208

Pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1657976232

4 SubmittersRCV001073536 RCV001245216 RCV003455327

NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)

SNV
Germline

Chr1:215675351

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_147304271

5 SubmittersRCV001073233 RCV001245929 RCV001828533 RCV002480448

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

rs_1657997730

4 SubmittersRCV001074890 RCV001211797 RCV003455387

NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)

SNV
Germline

Chr1:215759735

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

rs_527236139

4 SubmittersRCV001074265 RCV001376388 RCV003455351

NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter)

SNV
Germline

Chr1:215766730

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1661140054

3 SubmittersRCV001075028 RCV002554736 RCV003455390

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

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

Criteria Provided
Conflicting Classifications

rs_141452179

4 SubmittersRCV001073240 RCV001226170 RCV001833681 RCV003455307

NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter)

SNV
Germline

Chr1:215813784

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1662771528

3 SubmittersRCV001074877 RCV002557918 RCV003455386

NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)

SNV
Germline

Chr1:216070191

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_747652397

4 SubmittersRCV001074681 RCV002489722 RCV001862836 RCV003455372 RCV003455373

NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr)

SNV
Germline

Chr1:216078155

Pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_755032078

3 SubmittersRCV001074741 RCV001204740 RCV003455374

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

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

rs_769198746

5 SubmittersRCV001075822 RCV001381658 RCV002250723 RCV003455425

NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)

SNV
Germline

Chr1:216196671

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2034852728

6 SubmittersRCV001074304 RCV001243846 RCV002471033 RCV003323795 RCV004570315

NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)

SNV
Germline

Chr1:216247207

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_757154662

6 SubmittersRCV001074494 RCV001809978 RCV001385356 RCV003455368

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
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

rs_1352007983

3 SubmittersRCV001073592 RCV001862507 RCV003455328 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

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

rs_2039690812

4 SubmittersRCV001073478 RCV002554665 RCV003455321

NM_000329.3(RPE65):c.1040G>A (p.Arg347His)

SNV
Germline

Chr1:68438275

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

rs_562037932

3 SubmittersRCV001073373 RCV002554658 RCV003469271

NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)

SNV
Germline

Chr1:68444827

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

rs_1444234037

3 SubmittersRCV001073555 RCV001089888 RCV002554669

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

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

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

rs_866543181

3 SubmittersRCV001074763 RCV001257876 RCV001387747

NM_016247.4(IMPG2):c.3113G>T (p.Cys1038Phe)

SNV
Germline

Chr3:101232901

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 56

Criteria Provided
Conflicting Classifications

rs_1706305751

2 SubmittersRCV001074203 RCV001376407

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

rs_764109533

3 SubmittersRCV001074321 RCV001376406 RCV001862553

NM_000539.3(RHO):c.325G>A (p.Gly109Arg)

SNV
Germline

Chr3:129529058

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1415160298

3 SubmittersRCV001073984 RCV001265179 RCV001862531

NM_000539.3(RHO):c.328T>C (p.Cys110Arg)

SNV
Germline

Chr3:129529061

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 4
Condition: not provided
Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_1578278438

5 SubmittersRCV001075603 RCV001265180 RCV001389459 RCV001542565 RCV003324555

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

rs_2084776162

5 SubmittersRCV001074404 RCV001090663 RCV001265188 RCV001724238

NM_000539.3(RHO):c.532T>C (p.Tyr178His)

SNV
Germline

Chr3:129532252

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2084785435

3 SubmittersRCV001075883 RCV001265191 RCV001321723

NM_000539.3(RHO):c.551A>G (p.Gln184Arg)

SNV
Germline

Chr3:129532271

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1402468701

5 SubmittersRCV001075493 RCV001337215 RCV001535689 RCV002249673 RCV003447316

NM_000539.3(RHO):c.560G>T (p.Cys187Phe)

SNV
Germline

Chr3:129532280

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1578280588

3 SubmittersRCV001074608 RCV001265197 RCV001862569

NM_000539.3(RHO):c.647T>A (p.Met216Lys)

SNV
Germline

Chr3:129532367

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_984572250

6 SubmittersRCV001073436 RCV001090666 RCV001265200 RCV001542566

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

rs_2084801470

4 SubmittersRCV001090668 RCV001075811 RCV001265169

NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)

SNV
Germline

Chr4:15984309

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1033920857

4 SubmittersRCV001073905 RCV001376252 RCV001862810 RCV002489720

NM_001379270.1(CNGA1):c.1061T>C (p.Leu354Pro)

SNV
Germline

Chr4:47937421

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 49
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_748126956

3 SubmittersRCV001073893 RCV001374882 RCV001862522

NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)

SNV
Germline

Chr4:663803

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_373037737

6 SubmittersRCV001074165 RCV001376495 RCV001724236 RCV001382538 RCV002497489

NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter)

SNV
Germline

Chr5:149866226

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

rs_759563967

3 SubmittersRCV001073639 RCV001381541 RCV001784630

NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu)

SNV
Germline

Chr6:63720900

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

rs_772549804

3 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

rs_1250317776

6 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

rs_909730457

3 SubmittersRCV001075654 RCV001382260 RCV003462634

NM_001142800.2(EYS):c.4046G>A (p.Arg1349Gln)

SNV
Germline

Chr6:64591821

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_368698537

4 SubmittersRCV001073826 RCV001229658 RCV001833684 RCV004031178

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

rs_1245121527

3 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

rs_369347845

3 SubmittersRCV001074692 RCV001862573 RCV002480451

NM_001142800.2(EYS):c.967G>T (p.Gly323Ter)

SNV
Germline

Chr6:65405263

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_746499646

3 SubmittersRCV001073570 RCV001862505 RCV003462628

NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter)

SNV
Germline

Chr8:10612909

Pathogenic/Likely pathogenic

Retinal dystrophy
Occult macular dystrophy
Retinitis pigmentosa 88

Criteria Provided
Multiple Submitters
No Conflicts

rs_371886218

2 SubmittersRCV001073663 RCV002489719

NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter)

SNV
Germline

Chr8:10612991

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 88
RP1L1-related disorder

Criteria Provided
Conflicting Classifications

rs_567106336

5 SubmittersRCV001073256 RCV001090299 RCV001593252 RCV003405291

NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)

SNV
Germline

Chr8:43192383

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_763301637

6 SubmittersRCV001074429 RCV001251049 RCV001552003 RCV002554715 RCV003155356

NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter)

SNV
Germline

Chr15:71811829

Pathogenic/Likely pathogenic

Retinal dystrophy
Enhanced S-cone syndrome
Condition: not provided
Retinitis pigmentosa 37

Criteria Provided
Multiple Submitters
No Conflicts

rs_955766374

7 SubmittersRCV001075821 RCV001833696 RCV001390830 RCV001593257

NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr)

SNV
Germline

Chr16:1524864

Conflicting classifications of pathogenicity

Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

rs_369493147

3 SubmittersRCV001075464 RCV001371865 RCV002505666

NM_014714.4(IFT140):c.1984G>A (p.Val662Ile)

SNV
Germline

Chr16:1564080

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

rs_199758112

3 SubmittersRCV001074636 RCV002480450 RCV001862835

NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter)

SNV
Germline

Chr16:57967276

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 45
not specified

Criteria Provided
Conflicting Classifications

rs_201976061

5 SubmittersRCV001075066 RCV001384577 RCV001784637 RCV003987779

NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg)

SNV
Germline

Chr19:54126567

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 11
PRPF31-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2073926924

5 SubmittersRCV001073622 RCV001381238 RCV001724229 RCV002497486 RCV003906174

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

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

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
Retinitis pigmentosa 3
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2067161139

3 SubmittersRCV001074199 RCV001251621 RCV002464375 RCV002554703

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

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

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

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

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

rs_2067184023

2 SubmittersRCV001074219 RCV001251596 RCV003537469

NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter)

SNV
Germline

ChrX:38286739

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Condition: not provided
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Macular degeneration, X-linked atrophic
X-linked cone-rod dystrophy 1
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_2067187550

3 SubmittersRCV001075181 RCV001251588 RCV002464379 RCV002482156

NM_001034853.2(RPGR):c.2251A>T (p.Lys751Ter)

SNV
Germline

ChrX:38286748

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 3

Criteria Provided
Single Submitter

rs_2067188111

1 SubmittersRCV001073293 RCV001251585

NM_001034853.2(RPGR):c.2158C>T (p.Gln720Ter)

SNV
Germline

ChrX:38286841

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 3

Criteria Provided
Single Submitter

rs_2067191154

1 SubmittersRCV001075090 RCV001251581

NM_001034853.2(RPGR):c.2146G>T (p.Glu716Ter)

SNV
Germline

ChrX:38286853

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2067191335

3 SubmittersRCV001075438 RCV001251580 RCV002464380 RCV003537471

NM_001034853.2(RPGR):c.2125G>T (p.Glu709Ter)

SNV
Germline

ChrX:38286874

Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 3

Criteria Provided
Single Submitter

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

rs_2067193056

2 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

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

rs_1227276668

4 SubmittersRCV001376362 RCV002557901 RCV003890230

NM_001242957.3(MAK):c.485C>T (p.Thr162Ile)

SNV
Germline

Chr6:10808816

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_774229391

3 SubmittersRCV001075870 RCV001862856 RCV002298870

NM_201253.3(CRB1):c.653-1G>T

SNV
Germline

Chr1:197344280

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_760287363

5 SubmittersRCV001074781 RCV001593255 RCV001862575 RCV003446610 RCV003446611

NM_206933.4(USH2A):c.14791+5G>T

SNV
Germline

Chr1:215647517

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1235430504

4 SubmittersRCV001074063 RCV002557903 RCV003446607 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

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

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

rs_2034951427

5 SubmittersRCV001075303 RCV001386858 RCV001828541 RCV003446614

NM_206933.4(USH2A):c.1644+1G>A

SNV
Germline

Chr1:216321882

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_912980910

4 SubmittersRCV001075057 RCV001862840 RCV003446613

NM_201548.5(CERKL):c.677+1G>A

SNV
Germline

Chr2:181566057

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 26
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1005130980

3 SubmittersRCV001073678 RCV003473701 RCV003669180

NM_000283.4(PDE6B):c.992+1G>A

SNV
Germline

Chr4:654889

Pathogenic/Likely pathogenic

Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_898144119

3 SubmittersRCV001075786 RCV001257811 RCV001862633

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

rs_1382186195

3 SubmittersRCV001075219 RCV001376276 RCV002554749

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

rs_781616522

4 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

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

rs_1769469813

2 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

rs_1175129177

4 SubmittersRCV001073473 RCV001376422 RCV002554664

NM_152419.3(HGSNAT):c.118+5G>A

SNV
Germline

Chr8:43140619

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

rs_1174944521

2 SubmittersRCV001073674 RCV002557896

NM_014714.4(IFT140):c.634+5G>A

SNV
Germline

Chr16:1592171

Conflicting classifications of pathogenicity

Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

rs_1323647622

4 SubmittersRCV001073818 RCV001237370 RCV001376446

NM_015629.4(PRPF31):c.239-1G>A

SNV
Germline

Chr19:54121859

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2073798309

3 SubmittersRCV001074296 RCV001376221 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

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

rs_2073961843

3 SubmittersRCV001075047 RCV002471034 RCV002554738

NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)

SNV
Germline

Chr1:68431135

Pathogenic

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

Reviewed By Expert Panel

rs_1645823028

4 SubmittersRCV001089890 RCV002511032 RCV001201914 RCV003769013

NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)

SNV
Germline

Chr1:68431292

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

rs_1645824187

4 SubmittersRCV001089891 RCV001102321 RCV001862663 RCV003769014

NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)

SNV
Germline

Chr1:68444542

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

rs_774309607

2 SubmittersRCV001089896 RCV001206190

NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)

SNV
Germline

Chr1:197427496

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_765676754

4 SubmittersRCV001092287 RCV001380407 RCV003455432 RCV003455433

NM_001142800.2(EYS):c.35T>C (p.Met12Thr)

SNV
Germline

Chr6:65495376

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinal dystrophy
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

rs_755947942

5 SubmittersRCV001092365 RCV002249681 RCV003890233 RCV003469288

NM_006269.2(RP1):c.1012C>T (p.Arg338Ter)

SNV
Germline

Chr8:54624894

Pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1805984836

5 SubmittersRCV001092031 RCV001257792 RCV001784642

NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)

SNV
Germline

Chr17:6428419

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 4
Leber congenital amaurosis
Leber congenital amaurosis 4
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_201883601

7 SubmittersRCV001090635 RCV001172396 RCV002222668 RCV002489728

NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)

SNV
Germline

Chr1:216199752

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2034938852

4 SubmittersRCV001095691 RCV001231261 RCV003455443 RCV003455444

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

rs_782088671

2 SubmittersRCV001100609 RCV002554966

NM_004698.4(PRPF3):c.1042C>T (p.Leu348=)

SNV
Germline

Chr1:150338166

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_1489740997

2 SubmittersRCV003660843 RCV001100884

NM_004698.4(PRPF3):c.1847A>T (p.Asp616Val)

SNV
Germline

Chr1:150349160

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_587704985

2 SubmittersRCV002069637 RCV001097138

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

Criteria Provided
Conflicting Classifications

rs_201715448

2 SubmittersRCV001099275 RCV001099274 RCV003890240

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

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

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

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

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

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
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_147244321

4 SubmittersRCV001100736 RCV001100738 RCV001100737 RCV001317879 RCV001833700 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
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

rs_1413323140

2 SubmittersRCV001100836 RCV001101090 RCV001101091 RCV001443187

NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)

SNV
Germline

Chr1:197421884

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1204363918

7 SubmittersRCV001097351 RCV001097349 RCV001097350 RCV001828549 RCV001234545 RCV001700696 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

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

rs_74874838

2 SubmittersRCV001100415 RCV001100416 RCV001550447

NM_206933.4(USH2A):c.4627+10T>C

SNV
Germline

Chr1:216175242

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_148657311

2 SubmittersRCV001102382 RCV001102383 RCV001395518

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

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

Criteria Provided
Conflicting Classifications

rs_766038321

3 SubmittersRCV001101106 RCV001578843 RCV001101107 RCV002069695

NM_205861.3(DHDDS):c.855G>T (p.Gly285=)

SNV
Germline

Chr1:26468984

Conflicting classifications of pathogenicity

Retinitis pigmentosa 59
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_928446379

2 SubmittersRCV001426757 RCV001099447

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

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

Criteria Provided
Conflicting Classifications

rs_747122876

2 SubmittersRCV001100590 RCV001100591 RCV003769066

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

rs_1479443954

2 SubmittersRCV001097117 RCV001097118 RCV001444955

NM_014053.4(FLVCR1):c.1525+13G>A

SNV
Germline

Chr1:212889270

Conflicting classifications of pathogenicity

Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377087497

2 SubmittersRCV001101915 RCV002069706

NM_206933.4(USH2A):c.1972-4C>T

SNV
Germline

Chr1:216251102

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

rs_772294505

2 SubmittersRCV001506006 RCV001099031 RCV001099032

NM_000329.3(RPE65):c.859-11C>T

SNV
Germline

Chr1:68439092

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

rs_369772824

2 SubmittersRCV001097021 RCV001097022 RCV002069636

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

rs_140931492

2 SubmittersRCV001106852 RCV001483780

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

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

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

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

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

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

rs_748553756

2 SubmittersRCV001102768 RCV001448160

NM_004183.4(BEST1):c.822C>T (p.Pro274=)

SNV
Germline

Chr11:61958253

Conflicting classifications of pathogenicity

Vitelliform macular dystrophy 2
Autosomal dominant vitreoretinochoroidopathy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_759678509

2 SubmittersRCV001103399 RCV001103401 RCV001103400 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

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

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

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

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

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

rs_201010315

2 SubmittersRCV001105227 RCV001105228 RCV001105229 RCV001513069

NM_001354768.3(NRL):c.645C>T (p.Tyr215=)

SNV
Germline

Chr14:24081305

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_936140196

2 SubmittersRCV001112196 RCV001493310

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

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

Criteria Provided
Conflicting Classifications

rs_143812944

3 SubmittersRCV001119004 RCV001120975 RCV002558177

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

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

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

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

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
Enhanced S-cone syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_774102273

3 SubmittersRCV001115329 RCV001121911 RCV001247193

NM_000326.5(RLBP1):c.*217A>C

SNV
Germline

Chr15:89210068

Conflicting classifications of pathogenicity

Pigmentary retinal dystrophy
Retinitis pigmentosa
Newfoundland cone-rod dystrophy

Criteria Provided
Conflicting Classifications

rs_150636501

1 SubmittersRCV001120115 RCV001120116 RCV001120117

NM_000326.5(RLBP1):c.924C>A (p.Pro308=)

SNV
Germline

Chr15:89210315

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_144615495

2 SubmittersRCV001115517 RCV001115518 RCV001116936 RCV001497408

NM_000326.5(RLBP1):c.105C>T (p.Gly35=)

SNV
Germline

Chr15:89218601

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_373881009

2 SubmittersRCV001117121 RCV001117123 RCV001117122 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

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

rs_201884886

5 SubmittersRCV001118773 RCV002482220 RCV003246700 RCV003890263

NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)

SNV
Germline

Chr16:1526010

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_200394007

4 SubmittersRCV001118859 RCV002480491 RCV003890264

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

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

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

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

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

rs_7190978

2 SubmittersRCV001121640 RCV001399554

NM_001297.5(CNGB1):c.2475C>T (p.Tyr825=)

SNV
Germline

Chr16:57911770

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200934249

5 SubmittersRCV001119761 RCV001699509 RCV001511497

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

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

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

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

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

rs_530319460

2 SubmittersRCV001119956 RCV002069949

NM_001297.5(CNGB1):c.376G>C (p.Ala126Pro)

SNV
Germline

Chr16:57962979

Conflicting classifications of pathogenicity

Retinitis pigmentosa
CNGB1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200332871

3 SubmittersRCV001121945 RCV003953499 RCV001519030

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

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

rs_41482547

2 SubmittersRCV001118517 RCV001511921

NM_018418.5(SPATA7):c.1028+5A>G

SNV
Germline

Chr14:88429468

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa
SPATA7-related disorder

Criteria Provided
Conflicting Classifications

rs_368848333

3 SubmittersRCV001120976 RCV001120977 RCV004538348

NM_014249.4(NR2E3):c.349+15G>A

SNV
Germline

Chr15:71811884

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Enhanced S-cone syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1157654626

2 SubmittersRCV001118293 RCV001118294 RCV003769162

NM_000326.5(RLBP1):c.525+14C>T

SNV
Germline

Chr15:89215046

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1173705310

2 SubmittersRCV001117037 RCV001117039 RCV001117038 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

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

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

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

rs_190910346

2 SubmittersRCV001116876 RCV001509719

NM_001297.5(CNGB1):c.1373-3C>A

SNV
Germline

Chr16:57931881

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_564200357

2 SubmittersRCV001477946 RCV001121844

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

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

rs_140315637

2 SubmittersRCV001123761 RCV002070020

NM_006445.4(PRPF8):c.6120G>A (p.Thr2040=)

SNV
Germline

Chr17:1653884

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_761118301

3 SubmittersRCV001126416 RCV002556749 RCV003890273

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

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

rs_372925838

2 SubmittersRCV001126419 RCV001517292

NM_006445.4(PRPF8):c.3699C>T (p.Asp1233=)

SNV
Germline

Chr17:1673156

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_753683243

2 SubmittersRCV001122772 RCV001432156

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

rs_549397527

2 SubmittersRCV001123861 RCV002556682

NM_006445.4(PRPF8):c.3252C>G (p.Pro1084=)

SNV
Germline

Chr17:1674489

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
PRPF8-related disorder

Criteria Provided
Conflicting Classifications

rs_746764862

3 SubmittersRCV001123864 RCV001432648 RCV003953501

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

rs_75163090

6 SubmittersRCV001126504 RCV001796370 RCV001432777 RCV003890274

NM_006445.4(PRPF8):c.3081A>T (p.Ser1027=)

SNV
Germline

Chr17:1674660

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201573889

2 SubmittersRCV001126505 RCV001422691

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

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

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

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

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

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

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

rs_546019967

2 SubmittersRCV001123211 RCV002070015

NM_002602.4(PDE6G):c.51C>T (p.Ala17=)

SNV
Germline

Chr17:81653255

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_775425650

4 SubmittersRCV001123212 RCV001423208 RCV001699510

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

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

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

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

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

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

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
Retinal dystrophy
MERTK-related disorder

Criteria Provided
Conflicting Classifications

rs_3761702

4 SubmittersRCV001129154 RCV001427984 RCV003890278 RCV003973094

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

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

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
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_763651232

3 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
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

rs_764877352

2 SubmittersRCV001129005 RCV001129007 RCV001129006 RCV002558263

NM_000554.6(CRX):c.765C>T (p.Gly255=)

SNV
Germline

Chr19:47839832

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Leber congenital amaurosis 7
CRX-related disorder

Criteria Provided
Conflicting Classifications

rs_145913500

3 SubmittersRCV001131695 RCV001131696 RCV001213963 RCV001131694 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

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

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

rs_560185740

1 SubmittersRCV001132803 RCV001132804 RCV001136199

NM_000554.6(CRX):c.*1684G>A

SNV
Germline

Chr19:47841651

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

rs_141564522

1 SubmittersRCV001132282 RCV001132283 RCV001133217

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

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

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

rs_145699524

3 SubmittersRCV001129021 RCV001425060 RCV003890277

NM_015629.4(PRPF31):c.582G>A (p.Ala194=)

SNV
Germline

Chr19:54123803

Conflicting classifications of pathogenicity

Retinitis pigmentosa
PRPF31-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_757374570

3 SubmittersRCV001131698 RCV003928730 RCV002070537

NM_015629.4(PRPF31):c.594C>T (p.Asn198=)

SNV
Germline

Chr19:54123815

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_138269127

2 SubmittersRCV001131699 RCV002070538

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

rs_368242197

2 SubmittersRCV001131701 RCV002070539

NM_015629.4(PRPF31):c.1239C>T (p.Asn413=)

SNV
Germline

Chr19:54129149

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_371720691

3 SubmittersRCV001136117 RCV002556895 RCV003890280

NM_015629.4(PRPF31):c.177+4A>T

SNV
Germline

Chr19:54118459

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368136864

2 SubmittersRCV001135992 RCV002556892

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

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

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

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

rs_752334385

3 SubmittersRCV001138148 RCV001466444 RCV001833717

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

rs_77741297

5 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

rs_1688188231

2 SubmittersRCV001138251 RCV002070624

NM_000541.5(SAG):c.-69G>A

SNV
Germline

Chr2:233307982

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Oguchi disease

Criteria Provided
Conflicting Classifications

rs_189763324

1 SubmittersRCV001139459 RCV001139460

NM_000541.5(SAG):c.777C>T (p.Tyr259=)

SNV
Germline

Chr2:233331683

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Oguchi disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_766104513

2 SubmittersRCV001142173 RCV001142174 RCV002559378

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

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

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

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

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

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

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

rs_148351779

3 SubmittersRCV001140882 RCV002070690 RCV003890290

NM_144631.6(ZNF513):c.-8C>G

SNV
Germline

Chr2:27380534

Conflicting classifications of pathogenicity

Retinitis pigmentosa
ZNF513-related disorder

Criteria Provided
Conflicting Classifications

rs_142187881

2 SubmittersRCV001140883 RCV003938494

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

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

rs_189904739

3 SubmittersRCV001136590 RCV002070589 RCV003890283

NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu)

SNV
Germline

Chr2:29070858

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_756152942

4 SubmittersRCV001136594 RCV001344515 RCV003890284 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

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

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

rs_748746281

2 SubmittersRCV001143261 RCV002070723

NM_001029883.3(PCARE):c.2539G>C (p.Glu847Gln)

SNV
Germline

Chr2:29071723

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_541757069

2 SubmittersRCV001136692 RCV001511143

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

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

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

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

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

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

rs_143175658

2 SubmittersRCV001136708 RCV001478181

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

rs_746654808

2 SubmittersRCV001143387 RCV002557053

NM_014014.5(SNRNP200):c.423T>C (p.Ala141=)

SNV
Germline

Chr2:96301675

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140702204

2 SubmittersRCV001136812 RCV001517897

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

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

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

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

rs_758722968

2 SubmittersRCV001137385 RCV002070606

NM_012469.4(PRPF6):c.2349C>T (p.Ser783=)

SNV
Germline

Chr20:64028487

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_138601260

2 SubmittersRCV001137499 RCV002070610

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

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

rs_1167495795

2 SubmittersRCV001139714 RCV003890288

NM_201548.5(CERKL):c.1539-5T>A

SNV
Germline

Chr2:181538249

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371788033

2 SubmittersRCV001138151 RCV001430838

NM_201548.5(CERKL):c.895+13C>T

SNV
Germline

Chr2:181549621

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_187829374

2 SubmittersRCV001141154 RCV001460917

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

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

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

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

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

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

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

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

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

rs_117928032

2 SubmittersRCV001142860 RCV001512786

NM_012469.4(PRPF6):c.438+15C>T

SNV
Germline

Chr20:63993500

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371384048

2 SubmittersRCV001137387 RCV002070607

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

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

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

Criteria Provided
Conflicting Classifications

rs_190123178

2 SubmittersRCV001140381 RCV002070677

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

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

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

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

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

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

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

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

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

rs_556074974

2 SubmittersRCV001145349 RCV001466236

NM_016247.4(IMPG2):c.1219G>T (p.Ala407Ser)

SNV
Germline

Chr3:101253716

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199986912

3 SubmittersRCV001148202 RCV003890306 RCV001858972

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

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
Vitelliform macular dystrophy 5
Retinitis pigmentosa 56

Criteria Provided
Conflicting Classifications

rs_376443291

3 SubmittersRCV001149760 RCV001218602 RCV002491436

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

rs_145388804

2 SubmittersRCV001145438 RCV001434369

NM_000539.3(RHO):c.62G>A (p.Arg21His)

SNV
Germline

Chr3:129528795

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_552455660

2 SubmittersRCV001145548 RCV001145549 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
Condition: not provided
Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1

Criteria Provided
Conflicting Classifications

rs_372812523

3 SubmittersRCV001148424 RCV001148423 RCV001324702 RCV001535704

NM_000539.3(RHO):c.630C>T (p.Val210=)

SNV
Germline

Chr3:129532350

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 1
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_371192803

2 SubmittersRCV001143872 RCV001423121 RCV001150000

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

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
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141185480

3 SubmittersRCV001145774 RCV001145775 RCV001311612

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

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

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

rs_375365480

3 SubmittersRCV001148966 RCV001148967 RCV002070807 RCV003938513

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

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

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

Criteria Provided
Conflicting Classifications

rs_199727800

2 SubmittersRCV001146428 RCV001146430 RCV001146429 RCV001149203 RCV001229010

NM_006017.3(PROM1):c.1738A>C (p.Asn580His)

SNV
Germline

Chr4:15994016

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_199674847

3 SubmittersRCV001144700 RCV001150815 RCV001150813 RCV001150814 RCV001300999 RCV003890296

NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)

SNV
Germline

Chr4:15994044

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

rs_201644238

3 SubmittersRCV001146664 RCV001144701 RCV001144702 RCV001144703 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

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

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
Condition: not provided
Cone-rod dystrophy 12
Retinal macular dystrophy type 2

Criteria Provided
Conflicting Classifications

rs_770268627

2 SubmittersRCV001151115 RCV001151117 RCV001858986 RCV001151116 RCV001151118

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

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

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

Criteria Provided
Conflicting Classifications

rs_199556426

3 SubmittersRCV001147173 RCV001147175 RCV001147176 RCV001147174 RCV001241210

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_372128112

2 SubmittersRCV001145667 RCV001145666 RCV002070759

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

rs_367631575

2 SubmittersRCV001143874 RCV001143873 RCV002070735

NM_006017.3(PROM1):c.2582+9A>C

SNV
Germline

Chr4:15979386

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200033458

2 SubmittersRCV001145616 RCV001145728 RCV001145614 RCV001145615 RCV002557115

NM_006017.3(PROM1):c.1579-12A>C

SNV
Germline

Chr4:15998500

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

rs_370183490

2 SubmittersRCV001147573 RCV001147571 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

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

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

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

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

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

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

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

rs_537263212

2 SubmittersRCV001151256 RCV001151257 RCV002070830

NM_000283.4(PDE6B):c.316C>T (p.Leu106=)

SNV
Germline

Chr4:625942

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_752429712

2 SubmittersRCV001151260 RCV001151259 RCV002557261

NM_000283.4(PDE6B):c.344C>T (p.Pro115Leu)

SNV
Germline

Chr4:625970

Conflicting classifications of pathogenicity

Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_189172362

3 SubmittersRCV001154323 RCV001154324 RCV002032423 RCV004032810

NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser)

SNV
Germline

Chr4:654863

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_140224236

4 SubmittersRCV001154093 RCV001394923 RCV001154092 RCV003890311

NM_000283.4(PDE6B):c.1506C>T (p.Tyr502=)

SNV
Germline

Chr4:660505

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_750323428

2 SubmittersRCV001154207 RCV001154206 RCV002070884

NM_000283.4(PDE6B):c.1805G>A (p.Arg602His)

SNV
Germline

Chr4:662591

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_752846577

3 SubmittersRCV001156706 RCV001301231 RCV001156707 RCV003890313

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

rs_1737323722

2 SubmittersRCV001156710 RCV001156711 RCV001615127

NM_000283.4(PDE6B):c.2470A>G (p.Lys824Glu)

SNV
Germline

Chr4:667973

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_138682290

2 SubmittersRCV001154418 RCV001154417 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

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

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

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

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

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

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

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

rs_765008436

3 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

rs_768536269

2 SubmittersRCV001153580 RCV001153581 RCV002070872

NM_003322.6(TULP1):c.1563G>A (p.Pro521=)

SNV
Germline

Chr6:35498393

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1031077618

2 SubmittersRCV001156195 RCV001156196 RCV001458705

NM_003322.6(TULP1):c.1169G>A (p.Arg390His)

SNV
Germline

Chr6:35503792

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 15
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_139402633

3 SubmittersRCV001157867 RCV001157866 RCV001349738 RCV002557350

NM_003322.6(TULP1):c.1152C>T (p.Asn384=)

SNV
Germline

Chr6:35503809

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371436525

2 SubmittersRCV001157869 RCV001157868 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

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

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

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

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

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

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

rs_200703968

2 SubmittersRCV001157109 RCV003698846

NM_003322.6(TULP1):c.1112+8T>C

SNV
Germline

Chr6:35505733

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 15
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1286919081

2 SubmittersRCV001157870 RCV001157871 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

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

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

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

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

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
Choroidal dystrophy, central areolar 2
Adult-onset foveomacular vitelliform dystrophy
Retinitis pigmentosa
Patterned macular dystrophy 1

Criteria Provided
Conflicting Classifications

rs_572613522

1 SubmittersRCV001159042 RCV001159043 RCV001160386 RCV001160384 RCV001160387 RCV001160385

NM_000322.5(PRPH2):c.*509G>A

SNV
Germline

Chr6:42697786

Conflicting classifications of pathogenicity

Adult-onset foveomacular vitelliform dystrophy
Cone-rod dystrophy
Retinitis pigmentosa
Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Choroidal dystrophy, central areolar 2

Criteria Provided
Conflicting Classifications

rs_56194662

1 SubmittersRCV001162320 RCV001162322 RCV001162324 RCV001162319 RCV001162321 RCV001162323

NM_000322.5(PRPH2):c.*152G>A

SNV
Germline

Chr6:42698143

Conflicting classifications of pathogenicity

Pigmentary retinal dystrophy
Cone-rod dystrophy
Patterned macular dystrophy 1
Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2

Criteria Provided
Conflicting Classifications

rs_113384495

1 SubmittersRCV001160909 RCV001160911 RCV001160912 RCV001160913 RCV001160914 RCV001160910

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
Cone-rod dystrophy
Adult-onset foveomacular vitelliform dystrophy
PRPH2-related disorder
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_139329966

4 SubmittersRCV001159755 RCV001159752 RCV001159753 RCV001159754 RCV001164673 RCV001164674 RCV001359073 RCV001530390 RCV003890320

NM_000322.5(PRPH2):c.852C>A (p.Arg284=)

SNV
Germline

Chr6:42698484

Conflicting classifications of pathogenicity

Cone-rod dystrophy
Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Retinitis pigmentosa
Pigmentary retinal dystrophy
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

rs_745807357

2 SubmittersRCV001161272 RCV001162822 RCV001162824 RCV001162826 RCV001162823 RCV001162825 RCV002558532

NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser)

SNV
Germline

Chr6:42721989

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_140227298

3 SubmittersRCV001158294 RCV001158296 RCV001158297 RCV001530223 RCV001158293 RCV001158295 RCV001165013 RCV003890315

NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg)

SNV
Germline

Chr6:42722291

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_555112175

4 SubmittersRCV001163149 RCV001163151 RCV001163150 RCV001165225 RCV001165226 RCV001165227 RCV001530272 RCV002559561 RCV003890331

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

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

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

Criteria Provided
Conflicting Classifications

rs_1767253468

2 SubmittersRCV001162533 RCV003565471

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

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

Criteria Provided
Conflicting Classifications

rs_561830314

4 SubmittersRCV001164681 RCV001245603 RCV001828578

NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val)

SNV
Germline

Chr6:64591504

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_183144150

4 SubmittersRCV001161168 RCV001349026 RCV001828575 RCV003890326

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

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

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

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

rs_1300237940

2 SubmittersRCV001162940 RCV001429474

NM_001142800.2(EYS):c.1005G>T (p.Glu335Asp)

SNV
Germline

Chr6:65405225

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_80095433

4 SubmittersRCV001158308 RCV001246017 RCV001828573 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

rs_373343831

2 SubmittersRCV001161511 RCV001430124

NM_001142800.2(EYS):c.77G>A (p.Arg26Gln)

SNV
Germline

Chr6:65495334

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_528733427

5 SubmittersRCV001163040 RCV001202977 RCV001836123 RCV003890330

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

rs_72624974

1 SubmittersRCV001161183 RCV001161184

NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu)

SNV
Germline

Chr7:128395256

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_763999626

2 SubmittersRCV001162849 RCV001162848 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

rs_375914533

3 SubmittersRCV001162851 RCV001162850 RCV001510613 RCV001593301

NM_000883.4(IMPDH1):c.675T>C (p.Ser225=)

SNV
Germline

Chr7:128400444

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373353058

2 SubmittersRCV001161420 RCV001161421 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

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

Criteria Provided
Conflicting Classifications

rs_150640353

2 SubmittersRCV001163291 RCV003890332

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

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

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

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

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

rs_373590982

2 SubmittersRCV001158672 RCV003438688

NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)

SNV
Germline

Chr8:43169200

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Conflicting Classifications

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
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Conflicting Classifications

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

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

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_201860457

2 SubmittersRCV001165449 RCV001501910

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

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

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

rs_201004766

2 SubmittersRCV001158307 RCV001486239

NM_000883.4(IMPDH1):c.255-10C>T

SNV
Germline

Chr7:128405875

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1478038443

2 SubmittersRCV001165037 RCV001165038 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

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

rs_79305170

1 SubmittersRCV001165510 RCV001165511

NM_177965.4(CFAP418):c.*2166T>G

SNV
Germline

Chr8:95245451

Conflicting classifications of pathogenicity

Cone-rod dystrophy 16
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_149998549

1 SubmittersRCV001165514 RCV001165515

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

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

rs_150311212

1 SubmittersRCV001169635 RCV001169634

NM_005802.5(TOPORS):c.2234C>G (p.Ser745Cys)

SNV
Germline

Chr9:32542291

Conflicting classifications of pathogenicity

Inborn genetic diseases
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758096681

3 SubmittersRCV003293915 RCV001169505 RCV001482157

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

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

rs_757674137

2 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

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

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

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

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

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

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

Criteria Provided
Single Submitter

rs_1664140651

1 SubmittersRCV001261546

NM_001297.5(CNGB1):c.973C>T (p.Gln325Ter)

SNV
Germline

Chr16:57950442

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

rs_1961919100

1 SubmittersRCV001269023

NM_001029883.3(PCARE):c.3668+2T>C

SNV
Germline

Chr2:29070592

Likely pathogenic

Retinitis pigmentosa 54

Criteria Provided
Single Submitter

rs_1667454188

1 SubmittersRCV001269025

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

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1665282478

3 SubmittersRCV001198223 RCV001859201 RCV003449635 RCV003449636

NM_016247.4(IMPG2):c.1087C>T (p.Gln363Ter)

SNV
Germline

Chr3:101257595

Pathogenic

Retinitis pigmentosa 56
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_753747821

2 SubmittersRCV001197524 RCV001384529

NM_006269.2(RP1):c.4908C>A (p.Tyr1636Ter)

SNV
Unknown

Chr8:54628790

Likely pathogenic

Retinitis pigmentosa 1

Criteria Provided
Single Submitter

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

rs_2073873973

2 SubmittersRCV001197522 RCV001876281

NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys)

SNV
Unknown

ChrX:38285542

Likely pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

rs_2067111489

1 SubmittersRCV001199003

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

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

rs_1706475153

1 SubmittersRCV001198463

NM_000440.3(PDE6A):c.2027+2T>G

SNV
Unknown

Chr5:149884477

Pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

rs_1259637349

1 SubmittersRCV001196671

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
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Conflicting Classifications

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
Retinitis pigmentosa 26
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_1574454654

3 SubmittersRCV001223808 RCV003473781 RCV003887920

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

rs_531265943

3 SubmittersRCV001222640 RCV001780150

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

rs_201628941

2 SubmittersRCV001223571 RCV003132292

NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter)

SNV
Germline

Chr6:64590912

Pathogenic

Condition: not provided
Retinitis pigmentosa 25
EYS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_909730457

4 SubmittersRCV001224199 RCV001828789 RCV003983852

NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter)

SNV
Germline

Chr6:65344158

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_774464019

3 SubmittersRCV001221842 RCV003145415

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1471379682

2 SubmittersRCV001221113 RCV002497752

NM_201253.3(CRB1):c.379C>T (p.Gln127Ter)

SNV
Germline

Chr1:197328730

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_1658673791

1 SubmittersRCV001204868

NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)

SNV
Germline

Chr1:197421669

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_763111500

6 SubmittersRCV001201454 RCV001833768 RCV002250730 RCV003230647 RCV003449640 RCV003449639

NM_201253.3(CRB1):c.1949G>A (p.Trp650Ter)

SNV
Germline

Chr1:197421777

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558036860

2 SubmittersRCV001209939 RCV003462702

NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)

SNV
Germline

Chr1:68439023

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1171545533

2 SubmittersRCV001212438 RCV003469354

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

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

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

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
IFT172-related disorder

Criteria Provided
Conflicting Classifications

rs_147744868

4 SubmittersRCV001211918 RCV001751388 RCV003336334 RCV004548066

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

rs_1668686361

1 SubmittersRCV001207600

NM_000539.3(RHO):c.512C>G (p.Pro171Arg)

SNV
Germline

Chr3:129531026

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_2084776162

2 SubmittersRCV001208283 RCV003388936

NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg)

SNV
Germline

Chr3:97791790

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
ARL6-related disorder

Criteria Provided
Conflicting Classifications

rs_764523283

2 SubmittersRCV001205616 RCV003938562

NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro)

SNV
Germline

Chr4:15557452

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Retinitis pigmentosa 93

Criteria Provided
Single Submitter

rs_200707391

2 SubmittersRCV001207137 RCV002251560

NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro)

SNV
Germline

Chr6:42721946

Pathogenic/Likely pathogenic

PRPH2-related disorder
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1761911206

4 SubmittersRCV001212513 RCV001250303 RCV001530282

NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn)

SNV
Germline

Chr6:63721047

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_1211856182

4 SubmittersRCV001208831 RCV003462698 RCV003226443

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

rs_1768381543

2 SubmittersRCV001213720 RCV003462720

NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr)

SNV
Germline

Chr6:64081864

Pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1562190751

3 SubmittersRCV001213850 RCV003469359 RCV003887912

NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter)

SNV
Germline

Chr8:43182183

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Multiple Submitters
No Conflicts

rs_756420301

2 SubmittersRCV001204409 RCV004570431

NM_001244926.2(PRPF4):c.1504G>A (p.Asp502Asn)

SNV
Germline

Chr9:113291598

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 70
not specified

Criteria Provided
Conflicting Classifications

rs_141207203

4 SubmittersRCV001210372 RCV002471044 RCV004033795

NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)

SNV
Germline

Chr14:88824711

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Retinitis pigmentosa 51
Inborn genetic diseases
TTC8-related disorder

Criteria Provided
Conflicting Classifications

rs_759112760

4 SubmittersRCV001206292 RCV002497706 RCV002561222 RCV003405389

NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu)

SNV
Germline

Chr16:1525267

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

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
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

rs_371077545

2 SubmittersRCV001210181 RCV002480693

NM_001297.5(CNGB1):c.595C>T (p.Arg199Cys)

SNV
Germline

Chr16:57960054

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 45
Inborn genetic diseases
CNGB1-related disorder

Criteria Provided
Conflicting Classifications

rs_199583058

4 SubmittersRCV001207760 RCV002491630 RCV002561664 RCV003953580

NM_201253.3(CRB1):c.2129-1G>C

SNV
Germline

Chr1:197427453

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_1664642051

1 SubmittersRCV001203808

NM_206933.4(USH2A):c.8224-1G>C

SNV
Germline

Chr1:215879099

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1664846558

2 SubmittersRCV001213552 RCV003469357

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

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

rs_1349089552

2 SubmittersRCV001205737 RCV001833806

NM_152419.3(HGSNAT):c.1013-1G>C

SNV
Germline

Chr8:43182144

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1804147747

2 SubmittersRCV001201450 RCV003890342

NM_014714.4(IFT140):c.1901+1G>T

SNV
Germline

Chr16:1566160

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

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

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

rs_1662067653

4 SubmittersRCV001224891 RCV003469394

NM_000329.3(RPE65):c.726-2A>T

SNV
Germline

Chr1:68439325

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_878853372

3 SubmittersRCV001224577 RCV001250705

NM_201548.5(CERKL):c.1074-1G>C

SNV
Germline

Chr2:181548605

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

rs_927261937

5 SubmittersRCV001219755 RCV001724268

NM_001142800.2(EYS):c.749-1G>A

SNV
Germline

Chr6:65490708

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_368159852

3 SubmittersRCV001217429 RCV001828727

NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter)

SNV
Germline

Chr1:197421209

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1664292210

3 SubmittersRCV001228468 RCV001780159 RCV003449717 RCV003449718

NM_201253.3(CRB1):c.1472A>T (p.Asp491Val)

SNV
Germline

Chr1:197421300

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
CRB1-related maculopathy

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_896160584

2 SubmittersRCV001232801 RCV001779138

NM_201253.3(CRB1):c.3952A>T (p.Lys1318Ter)

SNV
Germline

Chr1:197442239

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

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
Usher syndrome type 2
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1657939866

3 SubmittersRCV001231420 RCV002307704 RCV003462787

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

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

rs_1363689100

2 SubmittersRCV001230360 RCV003462783

NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr)

SNV
Germline

Chr1:216247064

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

rs_192119790

3 SubmittersRCV001232520 RCV001249898 RCV001836188

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

rs_2037682180

5 SubmittersRCV001237068 RCV003388606 RCV003389490 RCV003462803

NM_000329.3(RPE65):c.536C>T (p.Ala179Val)

SNV
Germline

Chr1:68440960

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

rs_1645898265

2 SubmittersRCV001238369 RCV003770275

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

Criteria Provided
Single Submitter

rs_762958757

1 SubmittersRCV001227918

NM_015662.3(IFT172):c.3005T>A (p.Leu1002His)

SNV
Germline

Chr2:27457947

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
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

rs_150739354

4 SubmittersRCV001229036 RCV001760224 RCV002484250 RCV004548081

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

rs_186972495

2 SubmittersRCV001238187 RCV003462807

NM_000539.3(RHO):c.888G>C (p.Lys296Asn)

SNV
Germline

Chr3:129532724

Pathogenic

Condition: not provided
Retinitis pigmentosa 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_2084793009

2 SubmittersRCV001228505 RCV001265163

NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)

SNV
Germline

Chr3:3148095

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_199931785

3 SubmittersRCV001237758 RCV001249658

NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln)

SNV
Germline

Chr5:149895226

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

rs_373537826

2 SubmittersRCV001235330 RCV003323829

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

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

rs_1278246029

3 SubmittersRCV001231026 RCV001834002 RCV003323825

NM_001142800.2(EYS):c.2992G>A (p.Gly998Ser)

SNV
Germline

Chr6:64886697

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_1010982936

2 SubmittersRCV001227059 RCV001833962

NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter)

SNV
Germline

Chr6:79493708

Pathogenic

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_151017794

4 SubmittersRCV001234057 RCV001724273 RCV001828861

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

rs_1803593441

1 SubmittersRCV001231322

NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln)

SNV
Germline

Chr16:1511059

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

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
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

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

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

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
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

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
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

rs_752659125

2 SubmittersRCV001237193 RCV002484297

NM_001297.5(CNGB1):c.2921T>G (p.Met974Arg)

SNV
Germline

Chr16:57901407

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Conflicting Classifications

rs_752967885

2 SubmittersRCV001225821 RCV002250733

NM_201253.3(CRB1):c.601T>C (p.Cys201Arg)

SNV
Germline

Chr1:197328952

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

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
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
CRB1-related disorder

Criteria Provided
Conflicting Classifications

rs_1658699227

4 SubmittersRCV001240151 RCV002491791 RCV003449746 RCV003449748 RCV003449747 RCV004545145

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

rs_777528044

3 SubmittersRCV001241405 RCV001828975 RCV003353255

NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)

SNV
Germline

Chr1:215970653

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_151057466

7 SubmittersRCV001239617 RCV001834098 RCV001376450

NM_000329.3(RPE65):c.1449T>C (p.Asp483=)

SNV
Germline

Chr1:68431066

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Retinal dystrophy
RPE65-related disorder

Criteria Provided
Conflicting Classifications

rs_201116540

4 SubmittersRCV001240668 RCV001836206 RCV003887950 RCV004538501

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

Criteria Provided
Conflicting Classifications

rs_767528365

5 SubmittersRCV001244171 RCV001701309 RCV001836228

NM_000329.3(RPE65):c.421G>T (p.Glu141Ter)

SNV
Germline

Chr1:68444605

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

rs_1469460289

1 SubmittersRCV001245546

NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)

SNV
Germline

Chr1:68446831

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_750724065

4 SubmittersRCV001243775 RCV001829042 RCV004556080 RCV001773551

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

rs_768292284

4 SubmittersRCV001247332 RCV001835295 RCV002568678 RCV003887971

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
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder

Criteria Provided
Conflicting Classifications

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

rs_201467049

3 SubmittersRCV001245591 RCV001829960 RCV002568627

NM_001379270.1(CNGA1):c.1873C>T (p.Arg625Ter)

SNV
Germline

Chr4:47936609

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 49
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_376959147

2 SubmittersRCV001248447 RCV002499434

NM_003322.6(TULP1):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr6:35511759

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1309100490

2 SubmittersRCV001247233 RCV003106162

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

rs_374161234

4 SubmittersRCV001238996 RCV001828912 RCV003887947

NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)

SNV
Germline

Chr6:63789144

Pathogenic

Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1311193836

5 SubmittersRCV001248690 RCV001830049 RCV003323834 RCV003887974

NM_001142800.2(EYS):c.5567G>A (p.Arg1856Gln)

SNV
Germline

Chr6:64590300

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive retinitis pigmentosa
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_563441026

3 SubmittersRCV001240007 RCV001280445 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

rs_1766410692

2 SubmittersRCV001239419 RCV003469451

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

rs_1764939836

4 SubmittersRCV001241784 RCV001828985

NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)

SNV
Germline

Chr8:43170666

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_369292480

5 SubmittersRCV001247922 RCV001250769 RCV001835315 RCV002265017 RCV003235516

NM_006269.2(RP1):c.4804C>T (p.Gln1602Ter)

SNV
Germline

Chr8:54628686

Pathogenic

Condition: not provided
Retinitis pigmentosa 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1359338583

2 SubmittersRCV001243547 RCV001376336

NM_002900.3(RBP3):c.160C>T (p.Gln54Ter)

SNV
Germline

Chr10:47348644

Pathogenic

Condition: not provided
Retinitis pigmentosa 66

Criteria Provided
Multiple Submitters
No Conflicts

rs_782574616

2 SubmittersRCV001239290 RCV001810002

NM_014714.4(IFT140):c.3526G>A (p.Val1176Met)

SNV
Germline

Chr16:1520736

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

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

rs_754373519

2 SubmittersRCV001243980 RCV002504351

NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)

SNV
Germline

Chr16:56501421

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
BBS2-related disorder

Criteria Provided
Conflicting Classifications

rs_138314289

4 SubmittersRCV001240795 RCV001277877 RCV002484320 RCV004538502

NM_031885.5(BBS2):c.962C>T (p.Thr321Met)

SNV
Germline

Chr16:56502435

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Inborn genetic diseases
BBS2-related disorder

Criteria Provided
Conflicting Classifications

rs_758548498

5 SubmittersRCV001243382 RCV001829026 RCV002484343 RCV003365284 RCV004538507

NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)

SNV
Germline

Chr16:56511208

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
BBS2-related disorder

Criteria Provided
Conflicting Classifications

rs_144680278

5 SubmittersRCV001239677 RCV001559167 RCV001559168 RCV002491788 RCV004545144

NM_201253.3(CRB1):c.2843-1G>T

SNV
Germline

Chr1:197434705

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_878853368

3 SubmittersRCV001226168 RCV001828805 RCV003473786

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

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

rs_1438496892

3 SubmittersRCV001226427 RCV001833957 RCV003462775

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

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

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

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

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
Single Submitter

rs_565046666

2 SubmittersRCV001237350 RCV001828888

NM_014714.4(IFT140):c.3874-1G>A

SNV
Germline

Chr16:1520048

Likely pathogenic

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

rs_749563050

2 SubmittersRCV001234793 RCV002497804

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

rs_1664816177

2 SubmittersRCV001248098 RCV004570635

NM_206933.4(USH2A):c.6485+5G>A

SNV
Germline

Chr1:216000398

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1668240410

2 SubmittersRCV001242662 RCV003462819

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

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

rs_1665487115

1 SubmittersRCV001247743

NM_015662.3(IFT172):c.2443-3C>T

SNV
Germline

Chr2:27461096

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
IFT172-related disorder

Criteria Provided
Conflicting Classifications

rs_774328767

4 SubmittersRCV001239944 RCV001573009 RCV004548091

NM_006017.3(PROM1):c.2281-2A>G

SNV
Germline

Chr4:15984357

Likely pathogenic

Condition: not provided
Retinal macular dystrophy type 2
Retinitis pigmentosa 41

Criteria Provided
Single Submitter

rs_1718768311

2 SubmittersRCV001240495 RCV003483805

NM_006017.3(PROM1):c.1682+3A>G

SNV
Germline

Chr4:15998382

Pathogenic

Condition: not provided
Retinal macular dystrophy type 2
Retinitis pigmentosa 41

Criteria Provided
Single Submitter

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

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

rs_1195522061

3 SubmittersRCV001246553 RCV002307708 RCV003887967

NM_001377458.1(CLCC1):c.75C>A (p.Asp25Glu)

SNV
Germline

Chr1:108950363

Pathogenic

Retinitis pigmentosa 32
Condition: not provided

Criteria Provided
Single Submitter

rs_750180668

2 SubmittersRCV001248856 RCV001876296

NM_004798.4(KIF3B):c.748G>C (p.Glu250Gln)

SNV
Germline

Chr20:32310525

Pathogenic

Retinitis pigmentosa 89

No Assertion Criteria Provided

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

rs_2047828707

1 SubmittersRCV001249563

NM_201253.3(CRB1):c.687G>A (p.Trp229Ter)

SNV
Germline

Chr1:197344315

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

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

rs_1664306632

1 SubmittersRCV001249877

NM_001029883.3(PCARE):c.2822G>A (p.Trp941Ter)

SNV
Germline

Chr2:29071440

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1667480949

1 SubmittersRCV001249866

NM_001142800.2(EYS):c.113C>A (p.Ser38Ter)

SNV
Germline

Chr6:65495298

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1288767318

1 SubmittersRCV001249879

NM_006269.2(RP1):c.1183G>T (p.Glu395Ter)

SNV
Germline

Chr8:54625065

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

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

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

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

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

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

rs_2039619957

1 SubmittersRCV001249900

NM_001297.5(CNGB1):c.1957+2T>G

SNV
Germline

Chr16:57919097

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_755398007

1 SubmittersRCV001249870

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
PRPH2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1800110989

3 SubmittersRCV001250340 RCV001250341 RCV001386135 RCV001530379

NM_000322.5(PRPH2):c.675T>A (p.Tyr225Ter)

SNV
Germline

Chr6:42704518

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1800114066

1 SubmittersRCV001250314

NM_000322.5(PRPH2):c.631T>C (p.Phe211Leu)

SNV
Germline

Chr6:42704562

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1800116126

3 SubmittersRCV001250289 RCV001530317 RCV002570421

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

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

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

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

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

rs_1664669402

2 SubmittersRCV001250650 RCV002568707

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1667264651

5 SubmittersRCV001250641 RCV001879783 RCV002246235 RCV003449809

NM_000329.3(RPE65):c.993G>A (p.Trp331Ter)

SNV
Germline

Chr1:68438947

Pathogenic

Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

rs_1645879569

3 SubmittersRCV001257822 RCV001250692 RCV002570429

NM_000329.3(RPE65):c.706A>T (p.Lys236Ter)

SNV
Germline

Chr1:68439580

Pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

rs_1645885900

2 SubmittersRCV001250699 RCV001390652

NM_000329.3(RPE65):c.246-11A>G

SNV
Germline

Chr1:68444894

Likely pathogenic

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

Reviewed By Expert Panel

rs_905365719

6 SubmittersRCV001250681 RCV002307711 RCV002480862 RCV002570428 RCV003770300

NM_152419.3(HGSNAT):c.1252G>C (p.Gly418Arg)

SNV
Germline

Chr8:43192305

Likely pathogenic

Retinitis pigmentosa 73

No Assertion Criteria Provided

rs_1447139472

1 SubmittersRCV001250772

NM_152419.3(HGSNAT):c.1543-2A>C

SNV
Germline

Chr8:43197670

Pathogenic

Retinitis pigmentosa 73

No Assertion Criteria Provided

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

Criteria Provided
Conflicting Classifications

rs_61740250

3 SubmittersRCV001251461 RCV001314402 RCV004548104

NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter)

SNV
Germline

ChrX:38285839

Pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

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

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

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

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

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

rs_2067183876

2 SubmittersRCV001251597 RCV001724277

NM_001034853.2(RPGR):c.2006G>A (p.Trp669Ter)

SNV
Germline

ChrX:38286993

Pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

rs_2067196800

2 SubmittersRCV001251560 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

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

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

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

rs_2067976284

1 SubmittersRCV001251545

NM_001034853.2(RPGR):c.122C>A (p.Ser41Ter)

SNV
Germline

ChrX:38323431

Likely pathogenic

Retinitis pigmentosa 3

No Assertion Criteria Provided

rs_2067985937

1 SubmittersRCV001251544

NM_005530.3(IDH3A):c.716T>C (p.Met239Thr)

SNV
Germline

Chr15:78163717

Pathogenic

Retinitis pigmentosa 90

No Assertion Criteria Provided

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

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

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

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

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

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

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

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

rs_762578912

1 SubmittersRCV001256164

NM_001377.3(DYNC2H1):c.12695T>G (p.Leu4232Arg)

SNV
Germline

Chr11:103468635

Likely pathogenic

Autosomal recessive retinitis pigmentosa
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1945272232

2 SubmittersRCV001256166 RCV003586291

NM_000554.6(CRX):c.292C>T (p.Arg98Ter)

SNV
Germline

Chr19:47839359

Pathogenic

Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_751018117

2 SubmittersRCV001256189 RCV001879957

NM_201253.3(CRB1):c.80G>C (p.Cys27Ser)

SNV
Germline

Chr1:197328431

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

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

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

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

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

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

rs_1665099725

2 SubmittersRCV001257867 RCV003987818

NM_206933.4(USH2A):c.14294T>C (p.Val4765Ala)

SNV
Germline

Chr1:215650641

Likely pathogenic

Autosomal recessive retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

rs_763127023

2 SubmittersRCV001257872 RCV003738028

NM_206933.4(USH2A):c.4033G>C (p.Ala1345Pro)

SNV
Germline

Chr1:216198363

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2037760415

5 SubmittersRCV001257908 RCV002570628 RCV003323835 RCV003449817 RCV003469488

NM_000329.3(RPE65):c.1129-2A>G

SNV
Germline

Chr1:68431587

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

rs_1645826941

1 SubmittersRCV001257815

NM_000329.3(RPE65):c.515T>A (p.Val172Asp)

SNV
Germline

Chr1:68440981

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

rs_1645898413

1 SubmittersRCV001257820

NM_000329.3(RPE65):c.310G>C (p.Gly104Arg)

SNV
Germline

Chr1:68444819

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

rs_767478543

1 SubmittersRCV001257819

NM_000350.3(ABCA4):c.5642C>G (p.Ala1881Gly)

SNV
Germline

Chr1:94010872

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

rs_369973540

1 SubmittersRCV001257849

NM_006343.3(MERTK):c.2079+2T>G

SNV
Germline

Chr2:112010068

Pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1677065097

2 SubmittersRCV001389470 RCV001257902

NM_006343.3(MERTK):c.2219C>T (p.Ala740Val)

SNV
Germline

Chr2:112021451

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1805879513

4 SubmittersRCV001257896 RCV003485699 RCV002568760

NM_006269.2(RP1):c.4552A>T (p.Lys1518Ter)

SNV
Germline

Chr8:54628434

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

rs_1806144355

1 SubmittersRCV001257894

NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter)

SNV
Germline

Chr10:47349646

Conflicting classifications of pathogenicity

Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 66
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782245537

4 SubmittersRCV001257783 RCV001376320 RCV003558771

NM_024741.3(ZNF408):c.653-1G>T

SNV
Germline

Chr11:46704352

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

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

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

rs_761839551

1 SubmittersRCV001257780

NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys)

SNV
Germline

Chr16:57915260

Conflicting classifications of pathogenicity

Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 45
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771833874

3 SubmittersRCV001257779 RCV001376487 RCV001377367

NM_138393.4(REEP6):c.267G>A (p.Trp89Ter)

SNV
Germline

Chr19:1495526

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

rs_761786834

1 SubmittersRCV001257782

NM_004698.4(PRPF3):c.1504G>C (p.Ala502Pro)

SNV
Germline

Chr1:150344239

Likely pathogenic

Retinitis pigmentosa 18

Criteria Provided
Single Submitter

rs_1658063448

1 SubmittersRCV001261958

NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)

SNV
Germline

Chr4:15557481

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 6
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_563610095

3 SubmittersRCV001880034 RCV002499450 RCV002541585

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

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

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

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

rs_369525244

1 SubmittersRCV001262931

NM_006343.3(MERTK):c.1843A>T (p.Lys615Ter)

SNV
Germline

Chr2:112003960

Pathogenic

Retinitis pigmentosa 38

No Assertion Criteria Provided

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

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

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

rs_1803878901

3 SubmittersRCV001263606 RCV001880063 RCV002267635

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_2084758666

3 SubmittersRCV001265178 RCV001345144 RCV004584430

NM_000539.3(RHO):c.362G>T (p.Gly121Val)

SNV
Germline

Chr3:129530876

Likely pathogenic

Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa 4

Criteria Provided
Single Submitter

rs_2084774644

1 SubmittersRCV001265184 RCV001265183

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

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

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

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

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

rs_1273934052

1 SubmittersRCV001265202

NM_000539.3(RHO):c.886A>C (p.Lys296Gln)

SNV
Germline

Chr3:129532722

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

rs_29001653

1 SubmittersRCV001265162

NM_205861.3(DHDDS):c.104G>A (p.Gly35Glu)

SNV
Germline

Chr1:26438208

Likely pathogenic

Inborn genetic diseases
Retinitis pigmentosa 59
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2075181154

3 SubmittersRCV001266622 RCV001880122 RCV001577222

NM_206933.4(USH2A):c.13128G>A (p.Trp4376Ter)

SNV
Germline

Chr1:215674783

Pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1349682845

2 SubmittersRCV003462847 RCV001268158

NM_206933.4(USH2A):c.1144-2A>T

SNV
Germline

Chr1:216324354

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

rs_2037686445

4 SubmittersRCV001268230 RCV001779148 RCV002491871 RCV003446677 RCV003446678

NM_206933.4(USH2A):c.176G>A (p.Gly59Glu)

SNV
Germline

Chr1:216422161

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

rs_1378799607

3 SubmittersRCV001268038 RCV003462845

NM_000350.3(ABCA4):c.4849-2A>G

SNV
Germline

Chr1:94021411

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_1659893796

2 SubmittersRCV001268157 RCV003324561

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

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

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

rs_371915861

3 SubmittersRCV001268037 RCV003462844

NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)

SNV
Germline

Chr16:1526044

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_767213195

5 SubmittersRCV001380589 RCV001268630 RCV002290678 RCV001724283

NM_014714.4(IFT140):c.2068-2A>G

SNV
Germline

Chr16:1562118

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1489989834

2 SubmittersRCV002499458 RCV001267908

NM_014714.4(IFT140):c.212C>T (p.Pro71Leu)

SNV
Germline

Chr16:1602527

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_772757427

5 SubmittersRCV001379861 RCV001268555 RCV002250740 RCV001586101

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

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

rs_756203141

1 SubmittersRCV001270351

NM_001142800.2(EYS):c.6575A>G (p.Asn2192Ser)

SNV
Germline

Chr6:64066488

Conflicting classifications of pathogenicity

Autosomal recessive retinitis pigmentosa
Inborn genetic diseases
Retinitis pigmentosa 25

Criteria Provided
Conflicting Classifications

rs_750904267

3 SubmittersRCV001279255 RCV003382495 RCV002486057

NM_015629.4(PRPF31):c.140C>A (p.Ser47Ter)

SNV
Germline

Chr19:54118418

Likely pathogenic

Retinitis pigmentosa 11

No Assertion Criteria Provided

rs_2073703461

1 SubmittersRCV001280917

NM_001354768.3(NRL):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr14:24082611

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

rs_2138875137

1 SubmittersRCV001535429

NM_000283.4(PDE6B):c.1258-2A>G

SNV
Germline

Chr4:657349

Likely pathogenic

Retinitis pigmentosa 40
Condition: not provided

Criteria Provided
Single Submitter

rs_1736402440

2 SubmittersRCV001293399 RCV002543021

NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)

SNV
Germline

Chr14:88841494

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa 51
Bardet-Biedl syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_376035653

4 SubmittersRCV001293547 RCV003462854 RCV004004950

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

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

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

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
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

rs_1268140508

5 SubmittersRCV001305846 RCV001835485 RCV002486190 RCV003462874

NM_206933.4(USH2A):c.6225G>T (p.Trp2075Cys)

SNV
Germline

Chr1:216046531

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553294134

2 SubmittersRCV001295875 RCV003469514

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

Criteria Provided
Conflicting Classifications

rs_543062539

5 SubmittersRCV001298479 RCV002486144 RCV002541865 RCV003224553 RCV004548136

NM_015662.3(IFT172):c.3372-3C>T

SNV
Germline

Chr2:27454663

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_150011917

2 SubmittersRCV001307588 RCV004548150

NM_001201543.2(FAM161A):c.704C>A (p.Thr235Lys)

SNV
Germline

Chr2:61840300

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 28
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199759978

3 SubmittersRCV001298494 RCV001835418 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

rs_763706390

2 SubmittersRCV001298241 RCV002493571

NM_014714.4(IFT140):c.1945G>A (p.Val649Met)

SNV
Germline

Chr16:1564119

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

rs_534052238

2 SubmittersRCV001298461 RCV002476385

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

rs_552372867

2 SubmittersRCV001296361 RCV002493557

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

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

rs_1664649489

1 SubmittersRCV001327036

NM_201253.3(CRB1):c.2815T>C (p.Cys939Arg)

SNV
Germline

Chr1:197429587

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_1664775504

1 SubmittersRCV001316680

NM_201253.3(CRB1):c.3853T>C (p.Cys1285Arg)

SNV
Germline

Chr1:197438650

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_1665279918

1 SubmittersRCV001323343

NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)

SNV
Germline

Chr1:215674446

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1293619630

4 SubmittersRCV001315188 RCV003235546 RCV003473854 RCV003449895

NM_015662.3(IFT172):c.184-6T>A

SNV
Germline

Chr2:27485136

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

Criteria Provided
Conflicting Classifications

rs_371658303

2 SubmittersRCV001313779 RCV002476448

NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro)

SNV
Germline

Chr6:63720970

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
not specified

Criteria Provided
Conflicting Classifications

rs_569561277

5 SubmittersRCV001320706 RCV001376518 RCV003987831

NM_014714.4(IFT140):c.3271-5C>T

SNV
Germline

Chr16:1523705

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

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

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
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_538791217

4 SubmittersRCV001327727 RCV002486323 RCV003405554 RCV003169540

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
Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

rs_1001151383

4 SubmittersRCV001320521 RCV001532383 RCV001587340 RCV003447588

NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter)

SNV
Germline

Chr3:97780657

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
ARL6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

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

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
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_766316995

4 SubmittersRCV001333079 RCV002486331 RCV003888030

NM_001367823.1(ARHGEF18):c.2905-1G>T

SNV
Germline

Chr19:7466917

Likely pathogenic

Retinitis pigmentosa 78
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_201797784

2 SubmittersRCV001332877 RCV001871841

NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter)

SNV
Germline

Chr1:215648564

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1656936749

4 SubmittersRCV001972407 RCV003453872

NM_206933.4(USH2A):c.4056G>A (p.Trp1352Ter)

SNV
Germline

Chr1:216198340

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_2034899344

1 SubmittersRCV001335661

NM_016247.4(IMPG2):c.2566C>T (p.Gln856Ter)

SNV
Germline

Chr3:101243765

Pathogenic

Retinitis pigmentosa 56

Criteria Provided
Single Submitter

rs_1706436657

1 SubmittersRCV001591794

NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter)

SNV
Germline

Chr16:1586246

Pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1166261279

4 SubmittersRCV001785239 RCV002503275

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

rs_1664303657

1 SubmittersRCV001343048

NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser)

SNV
Germline

Chr1:197435549

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1031415706

2 SubmittersRCV001350386 RCV003473873

NM_015662.3(IFT172):c.5069-3C>T

SNV
Germline

Chr2:27445108

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

rs_370108416

3 SubmittersRCV001348672 RCV001547620 RCV004548192

NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg)

SNV
Germline

Chr6:35505766

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 14

Criteria Provided
Conflicting Classifications

rs_1761067394

3 SubmittersRCV001346724 RCV001376325

NM_001142800.2(EYS):c.1549C>T (p.Pro517Ser)

SNV
Germline

Chr6:65344088

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_763331925

3 SubmittersRCV001831042 RCV001337877 RCV002546828

NM_000883.4(IMPDH1):c.1436C>T (p.Thr479Met)

SNV
Germline

Chr7:128395003

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 10
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_201001000

4 SubmittersRCV001349260 RCV003479315 RCV003888054

NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)

SNV
Germline

Chr8:43193790

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

rs_753355844

2 SubmittersRCV001340284 RCV001831060

NM_177965.4(CFAP418):c.155+12G>A

SNV
Germline

Chr8:95269023

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-biedl syndrome 21
Retinitis pigmentosa
Cone-rod dystrophy 16

Criteria Provided
Conflicting Classifications

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

rs_778960409

2 SubmittersRCV001339303 RCV002493742

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

Criteria Provided
Conflicting Classifications

rs_139286030

2 SubmittersRCV001344891 RCV002486401

NM_014714.4(IFT140):c.179G>A (p.Arg60Lys)

SNV
Germline

Chr16:1602560

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_148093208

4 SubmittersRCV001340494 RCV001773680 RCV002504533 RCV004035941

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

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

Criteria Provided
Conflicting Classifications

rs_1211325812

4 SubmittersRCV001353015 RCV001379165 RCV001724300

NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys)

SNV
Unknown

Chr6:42721823

Likely pathogenic

Retinitis pigmentosa 7

Criteria Provided
Single Submitter

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

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

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

rs_1428719874

1 SubmittersRCV001353020

NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter)

SNV
Germline

Chr2:29073342

Pathogenic

Condition: not provided
Retinitis pigmentosa 54
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_1397537890

4 SubmittersRCV001355875 RCV001587369 RCV001724301

NM_201253.3(CRB1):c.2927T>C (p.Ile976Thr)

SNV
Germline

Chr1:197434790

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

rs_2125499116

3 SubmittersRCV001360674 RCV003324562 RCV003450008 RCV003450010 RCV003450009

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

Criteria Provided
Conflicting Classifications

rs_2102460239

3 SubmittersRCV001360099 RCV001587370 RCV001587371

NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)

SNV
Germline

Chr1:216196680

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Conflicting Classifications

rs_751479180

5 SubmittersRCV001365783 RCV001376389 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

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
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

rs_759799179

2 SubmittersRCV001367497 RCV002488138

NM_201548.5(CERKL):c.953T>C (p.Phe318Ser)

SNV
Germline

Chr2:181548800

Likely pathogenic

Retinitis pigmentosa 26
Condition: not provided

Criteria Provided
Single Submitter

rs_745341953

2 SubmittersRCV001831256 RCV001365186

NM_015662.3(IFT172):c.357A>G (p.Gln119=)

SNV
Germline

Chr2:27483917

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
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_749934202

3 SubmittersRCV001361414 RCV002499730 RCV003888061

NM_015662.3(IFT172):c.291A>C (p.Glu97Asp)

SNV
Germline

Chr2:27485023

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
IFT172-related disorder

Criteria Provided
Conflicting Classifications

rs_189236939

3 SubmittersRCV001374350 RCV002254962 RCV004550094

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

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

rs_991580368

3 SubmittersRCV001364777 RCV001831254

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

rs_1051579797

3 SubmittersRCV001373204 RCV002222204 RCV003324563

NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg)

SNV
Germline

Chr9:6565428

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_758575745

2 SubmittersRCV001360323 RCV004545214

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

rs_1259983553

4 SubmittersRCV001370244 RCV001826087 RCV003447593

NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn)

SNV
Germline

Chr16:1510955

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_777181948

3 SubmittersRCV001369014 RCV002504612 RCV004037069

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

rs_201871050

2 SubmittersRCV002488140 RCV001367739

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

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

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

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

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

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

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

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

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

rs_755646290

1 SubmittersRCV001376461

NM_206933.4(USH2A):c.5598T>C (p.Val1866=)

SNV
Germline

Chr1:216073275

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

rs_771810761

2 SubmittersRCV001445868 RCV001376533

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2034908815

3 SubmittersRCV001376244 RCV001865891

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

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

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

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

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

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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1279906432

3 SubmittersRCV001376468 RCV001865902 RCV004531183

NM_003322.6(TULP1):c.187G>T (p.Gly63Ter)

SNV
Germline

Chr6:35512183

Pathogenic

Retinitis pigmentosa 14
Condition: not provided
TULP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_757725696

3 SubmittersRCV001376483 RCV003771221 RCV004531184

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

rs_933169926

6 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
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_1015857165

6 SubmittersRCV001376421 RCV001871990 RCV003155404 RCV003888076

NM_001142800.2(EYS):c.3606C>A (p.Cys1202Ter)

SNV
Germline

Chr6:64617496

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

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

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

rs_747923761

2 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

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

rs_2129316679

1 SubmittersRCV001376337

NM_001354768.3(NRL):c.152C>A (p.Pro51His)

SNV
Germline

Chr14:24082697

Likely pathogenic

Retinitis pigmentosa 27

Criteria Provided
Single Submitter

rs_2036353653

1 SubmittersRCV001376379

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

rs_544807110

4 SubmittersRCV001376380 RCV001871986 RCV003462941 RCV003888075

NM_001297.5(CNGB1):c.2635-2A>T

SNV
Germline

Chr16:57903983

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 45

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149358592

2 SubmittersRCV001871982 RCV001376232

NM_001297.5(CNGB1):c.2634+2T>C

SNV
Germline

Chr16:57904732

Likely pathogenic

Retinitis pigmentosa 45

Criteria Provided
Single Submitter

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2146418999

2 SubmittersRCV001376265 RCV001871984

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

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

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

rs_2147200625

1 SubmittersRCV001376227

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

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

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

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

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

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

rs_2125468776

1 SubmittersRCV001379001

NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr)

SNV
Germline

Chr1:197421177

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
not specified

Criteria Provided
Conflicting Classifications

rs_746597173

2 SubmittersRCV001379460 RCV003230670

NM_201253.3(CRB1):c.1439G>C (p.Cys480Ser)

SNV
Germline

Chr1:197421267

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_62636265

1 SubmittersRCV001378739

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

rs_757279881

1 SubmittersRCV001377887

NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys)

SNV
Germline

Chr1:197421933

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1180527322

2 SubmittersRCV001377318 RCV003473900

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

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

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

Criteria Provided
Single Submitter

rs_767368951

1 SubmittersRCV001378741

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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2030617696

3 SubmittersRCV001377391 RCV001826127 RCV003469625

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2102658764

2 SubmittersRCV001378809 RCV003473912

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

rs_1248671884

3 SubmittersRCV001377031 RCV002499773

NM_000329.3(RPE65):c.1243+1G>A

SNV
Germline

Chr1:68431470

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

rs_1421696563

1 SubmittersRCV001378085

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

rs_2100821984

2 SubmittersRCV001379142 RCV003462960

NM_000329.3(RPE65):c.354-1G>A

SNV
Germline

Chr1:68444673

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Single Submitter

rs_2100827985

2 SubmittersRCV001377276 RCV001826126

NM_000329.3(RPE65):c.344T>C (p.Ile115Thr)

SNV
Germline

Chr1:68444785

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1645929674

2 SubmittersRCV001377673 RCV003469629

NM_000329.3(RPE65):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:68449903

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

rs_1357241537

1 SubmittersRCV001379122

NM_201548.5(CERKL):c.1073+1G>A

SNV
Germline

Chr2:181548679

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Single Submitter

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

rs_1328971667

2 SubmittersRCV001377413 RCV003473902

NM_201548.5(CERKL):c.677+547G>C

SNV
Germline

Chr2:181565511

Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_1044562973

2 SubmittersRCV001379810 RCV002469386

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

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

rs_2148546998

1 SubmittersRCV001377047

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

rs_1300819259

2 SubmittersRCV001376926 RCV002307736

NM_000322.5(PRPH2):c.625G>A (p.Val209Ile)

SNV
Germline

Chr6:42704568

Likely pathogenic

PRPH2-related disorder
Condition: not provided
Retinitis pigmentosa 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_753657349

4 SubmittersRCV001378480 RCV001530314 RCV002051942

NM_001142800.2(EYS):c.6415T>C (p.Cys2139Arg)

SNV
Germline

Chr6:64230601

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_1378663182

2 SubmittersRCV001377570 RCV003462951

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

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

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

rs_960578029

2 SubmittersRCV001376874 RCV001836382

NM_001142800.2(EYS):c.863-2A>C

SNV
Germline

Chr6:65405369

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Single Submitter

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

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

rs_771218088

2 SubmittersRCV001378356 RCV004570928

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

rs_1429797650

2 SubmittersRCV001377501 RCV003323871

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_768107603

2 SubmittersRCV001386224 RCV003473963

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

rs_2125470583

1 SubmittersRCV001387606

NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)

SNV
Germline

Chr1:197421659

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_769909288

5 SubmittersRCV001390796 RCV001831405 RCV002488213 RCV003451693 RCV003451694 RCV003451695

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

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

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

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

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

rs_890453675

1 SubmittersRCV001387814

NM_201253.3(CRB1):c.4006-1G>T

SNV
Germline

Chr1:197477663

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_752804194

4 SubmittersRCV001390944 RCV003446739 RCV002499822 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

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

rs_41308425

2 SubmittersRCV001383267 RCV003469690

NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter)

SNV
Germline

Chr1:216048566

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1209837469

4 SubmittersRCV001388190 RCV003450079 RCV002499807 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

rs_2102554289

2 SubmittersRCV001386383 RCV003463014

NM_206933.4(USH2A):c.1841-1G>A

SNV
Germline

Chr1:216289411

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_2102606531

2 SubmittersRCV001387464 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

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

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

rs_2100817136

1 SubmittersRCV001384746

NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter)

SNV
Germline

Chr1:68439028

Pathogenic/Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2100818575

2 SubmittersRCV001382384 RCV003469676

NM_000329.3(RPE65):c.637C>T (p.Gln213Ter)

SNV
Germline

Chr1:68440859

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_777966849

2 SubmittersRCV001389735 RCV003469763

NM_000329.3(RPE65):c.545A>G (p.His182Arg)

SNV
Germline

Chr1:68440951

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

rs_1459110114

3 SubmittersRCV001388256 RCV003469740 RCV004527424

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

Reviewed By Expert Panel

rs_1344724754

3 SubmittersRCV001380404 RCV003469648 RCV003771233

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

rs_768448761

3 SubmittersRCV001380405 RCV001826156 RCV003469649

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

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

rs_2105569550

2 SubmittersRCV001388834 RCV003469747

NM_015662.3(IFT172):c.4508G>A (p.Trp1503Ter)

SNV
Germline

Chr2:27447843

Pathogenic

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

Criteria Provided
Single Submitter

rs_1665288663

1 SubmittersRCV001381451

NM_015662.3(IFT172):c.3949A>T (p.Lys1317Ter)

SNV
Germline

Chr2:27453386

Pathogenic

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

Criteria Provided
Single Submitter

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

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

rs_999731005

2 SubmittersRCV001380017 RCV002476718

NM_015662.3(IFT172):c.2646C>A (p.Cys882Ter)

SNV
Germline

Chr2:27459519

Pathogenic

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

Criteria Provided
Single Submitter

rs_1309394469

1 SubmittersRCV001389719

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

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

rs_2105111295

3 SubmittersRCV001389558 RCV003226472 RCV003469759

NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter)

SNV
Germline

Chr3:97768111

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_771628868

2 SubmittersRCV001389155 RCV002246376

NM_001379270.1(CNGA1):c.1525G>A (p.Gly509Arg)

SNV
Germline

Chr4:47936957

Pathogenic

Condition: not provided
Retinitis pigmentosa 49

Criteria Provided
Single Submitter

rs_544588016

2 SubmittersRCV001380418 RCV003222314

NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)

SNV
Germline

Chr4:662584

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_764605140

4 SubmittersRCV001382537 RCV001702590 RCV002272466

NM_001242957.3(MAK):c.7C>T (p.Arg3Ter)

SNV
Germline

Chr6:10830642

Conflicting classifications of pathogenicity

Condition: not provided
MAK-related disorder
Retinitis pigmentosa 62

Criteria Provided
Conflicting Classifications

rs_558628181

3 SubmittersRCV001384965 RCV003973223 RCV004557581

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
Retinitis pigmentosa 7
Pigmentary retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554269046

4 SubmittersRCV001389849 RCV001530322 RCV002290706 RCV002468637 RCV003388844

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

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

rs_745574120

2 SubmittersRCV001384118 RCV003473950

NM_001142800.2(EYS):c.3573G>A (p.Trp1191Ter)

SNV
Germline

Chr6:64617529

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_1239806410

2 SubmittersRCV001382261 RCV003469673

NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter)

SNV
Germline

Chr6:64626127

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_2149856749

4 SubmittersRCV001382262 RCV001831383

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

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

rs_1766182274

3 SubmittersRCV001390157 RCV003469768 RCV003888090

NM_152419.3(HGSNAT):c.376G>T (p.Glu126Ter)

SNV
Germline

Chr8:43158927

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

rs_1803180587

1 SubmittersRCV001386044

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

rs_1924906177

2 SubmittersRCV001380314 RCV003336392

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

rs_140127543

3 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

rs_1462542158

2 SubmittersRCV001420530 RCV002070261

NM_001164665.2(KIAA1549):c.4214T>C (p.Val1405Ala)

SNV
Germline

Chr7:138881403

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Retinitis pigmentosa 86

Criteria Provided
Conflicting Classifications

rs_555092681

3 SubmittersRCV001445303 RCV002559321 RCV002501568

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

rs_139286519

2 SubmittersRCV001494802 RCV002284969

NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)

SNV
Germline

ChrX:13744496

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Familial aplasia of the vermis
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

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

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

rs_2147081422

1 SubmittersRCV001526697

NM_003611.3(OFD1):c.1411+1G>A

SNV
Unknown

ChrX:13756768

Pathogenic

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

Criteria Provided
Single Submitter

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

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

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

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

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

rs_1271339736

1 SubmittersRCV001542736

NM_000283.4(PDE6B):c.1160C>T (p.Pro387Leu)

SNV
Germline

Chr4:656926

Pathogenic

Retinitis pigmentosa 40
Condition: not provided

Criteria Provided
Single Submitter

rs_1392709495

2 SubmittersRCV001542534 RCV002032533

NM_003322.6(TULP1):c.1066C>A (p.Pro356Thr)

SNV
Germline

Chr6:35505787

Pathogenic

Retinitis pigmentosa 14

No Assertion Criteria Provided

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

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

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

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

rs_775921966

4 SubmittersRCV001553487 RCV003451808

NM_201253.3(CRB1):c.2340C>T (p.Pro780=)

SNV
Germline

Chr1:197427665

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

rs_2125484301

2 SubmittersRCV001563882 RCV001563883 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
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Conflicting Classifications

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

rs_754653320

2 SubmittersRCV001578929 RCV001578930 RCV001578931 RCV001578932 RCV002570817

NM_201253.3(CRB1):c.70+1G>T

SNV
Germline

Chr1:197268483

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_1237424465

1 SubmittersRCV001580686 RCV001580687

NM_001142800.2(EYS):c.2993-2A>G

SNV
Germline

Chr6:64822824

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_2150022860

1 SubmittersRCV001580700

NM_000180.4(GUCY2D):c.1567-1G>C

SNV
Germline

Chr17:8007930

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Autosomal recessive optic atrophy
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Multiple Submitters
No Conflicts

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

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
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

rs_568736482

5 SubmittersRCV001591793 RCV002571156 RCV004551934 RCV002506690 RCV003224574

NM_000260.4(MYO7A):c.785T>G (p.Met262Arg)

SNV
Germline

Chr11:77157328

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

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

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

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

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

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

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

rs_2146380786

1 SubmittersRCV001591825

NM_152443.3(RDH12):c.148G>A (p.Gly50Ser)

SNV
Germline

Chr14:67724552

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 13

Criteria Provided
Conflicting Classifications

rs_2140141345

2 SubmittersRCV001591830 RCV001866151

NM_138393.4(REEP6):c.349-1G>A

SNV
Germline

Chr19:1496284

Pathogenic

Retinitis pigmentosa 77

Criteria Provided
Single Submitter

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

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

rs_1578281565

3 SubmittersRCV001591837 RCV003888307 RCV003565484

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

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

rs_755599243

1 SubmittersRCV001591847

NM_006915.3(RP2):c.434T>C (p.Phe145Ser)

SNV
Germline

ChrX:46853807

Conflicting classifications of pathogenicity

Retinitis pigmentosa 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1000426939

2 SubmittersRCV001591849 RCV001866155

NM_000329.3(RPE65):c.1229C>A (p.Ser410Ter)

SNV
Germline

Chr1:68431485

Pathogenic

Retinitis pigmentosa 20

Criteria Provided
Single Submitter

rs_1235881190

1 SubmittersRCV001591858

NM_001034853.2(RPGR):c.779-2A>G

SNV
Germline

ChrX:38304792

Pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

rs_2147248124

1 SubmittersRCV001591862

NM_001034853.2(RPGR):c.1541C>G (p.Ser514Ter)

SNV
Germline

ChrX:38290990

Pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

rs_2147211363

1 SubmittersRCV001591864

NM_001034853.2(RPGR):c.934+2T>C

SNV
Germline

ChrX:38304633

Pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

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

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

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

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

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

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_756570931

5 SubmittersRCV001591881 RCV003324566 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

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

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

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

Criteria Provided
Conflicting Classifications

rs_1344137236

2 SubmittersRCV001591915 RCV001866159

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

Criteria Provided
Conflicting Classifications

rs_1401497994

3 SubmittersRCV001591920 RCV001866161 RCV002471126

NM_201253.3(CRB1):c.750T>A (p.Cys250Ter)

SNV
Germline

Chr1:197344378

Pathogenic

Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

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

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

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

rs_2150076826

3 SubmittersRCV001591937 RCV002569133 RCV003888308

NM_001142800.2(EYS):c.5283T>A (p.Tyr1761Ter)

SNV
Germline

Chr6:64590584

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_1158231145

3 SubmittersRCV001866167 RCV001591939

NM_001142800.2(EYS):c.3938T>A (p.Leu1313Ter)

SNV
Germline

Chr6:64591929

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

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

rs_1253790930

1 SubmittersRCV001591941

NM_205861.3(DHDDS):c.109C>T (p.Arg37Cys)

SNV
Germline

Chr1:26438213

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553121072

3 SubmittersRCV001593456 RCV001866177 RCV003333167

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

rs_770887047

4 SubmittersRCV001637980 RCV001637979 RCV002538519 RCV003324567

NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)

SNV
Germline

ChrX:38286781

Pathogenic

Condition: not provided
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

rs_983693027

4 SubmittersRCV001682656 RCV002246455 RCV002538608

NM_206933.4(USH2A):c.9959-2A>G

SNV
Germline

Chr1:215790284

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

rs_1661946523

3 SubmittersRCV001701217 RCV003463058

NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter)

SNV
Germline

Chr6:64945866

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_992863438

4 SubmittersRCV003388034 RCV003463059 RCV001699706

NM_152419.3(HGSNAT):c.493+5G>A

SNV
Germline

Chr8:43159049

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_781408761

4 SubmittersRCV001699670 RCV003323916 RCV002538631

NM_001031710.3(KLHL7):c.433A>T (p.Asn145Tyr)

SNV
Unknown

Chr7:23125163

Likely pathogenic

Retinitis pigmentosa 42

Criteria Provided
Single Submitter

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
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_759589388

4 SubmittersRCV001724800 RCV002503172 RCV002032669 RCV003888315

NM_000283.4(PDE6B):c.1108-2A>G

SNV
Germline

Chr4:656872

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1316718953

1 SubmittersRCV001724804

NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter)

SNV
Germline

Chr19:54129075

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2146449862

3 SubmittersRCV001724808 RCV001859436

NM_000539.3(RHO):c.568G>C (p.Asp190His)

SNV
Germline

Chr3:129532288

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_104893779

2 SubmittersRCV001724812 RCV002539737

NM_006269.2(RP1):c.615+1G>T

SNV
Germline

Chr8:54621582

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_886210482

1 SubmittersRCV001724813

NM_001034853.2(RPGR):c.2452G>T (p.Glu818Ter)

SNV
Germline

ChrX:38286547

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_2147197770

1 SubmittersRCV001724823

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

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

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

rs_2104355428

1 SubmittersRCV001724828

NM_003322.6(TULP1):c.487C>T (p.Gln163Ter)

SNV
Germline

Chr6:35510873

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_2150927932

1 SubmittersRCV001724833

NM_024649.5(BBS1):c.1473+2T>G

SNV
Germline

Chr11:66529954

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1856699646

1 SubmittersRCV001724834

NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser)

SNV
Germline

Chr1:216321921

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Usher syndrome

Criteria Provided
Conflicting Classifications

rs_111033273

3 SubmittersRCV001724840 RCV002543875 RCV004526858

NM_206933.4(USH2A):c.11684G>A (p.Gly3895Glu)

SNV
Germline

Chr1:215741402

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_1472714005

1 SubmittersRCV001724841

NM_206933.4(USH2A):c.2810-1G>A

SNV
Germline

Chr1:216232137

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

rs_778336512

1 SubmittersRCV001724842

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

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

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

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

rs_1842216995

2 SubmittersRCV001724851 RCV002227535 RCV003222341

NM_025114.4(CEP290):c.4705-2A>C

SNV
Germline

Chr12:88083956

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis 10
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_2137170380

2 SubmittersRCV001859437 RCV002227536 RCV001724852

NM_001379270.1(CNGA1):c.234C>A (p.Tyr78Ter)

SNV
Germline

Chr4:47949886

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1436425494

2 SubmittersRCV001724853 RCV003558851

NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp)

SNV
Germline

Chr1:197421672

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

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

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

rs_866804139

2 SubmittersRCV001724860 RCV002539743

NM_001142800.2(EYS):c.174G>A (p.Trp58Ter)

SNV
Germline

Chr6:65495237

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1177052380

3 SubmittersRCV001724863 RCV003470880 RCV001882787

NM_001142800.2(EYS):c.3164+1G>A

SNV
Germline

Chr6:64822650

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1029564423

3 SubmittersRCV001724864 RCV002506743 RCV002538667

NM_201253.3(CRB1):c.3881G>A (p.Cys1294Tyr)

SNV
Germline

Chr1:197442168

Conflicting classifications of pathogenicity

Cone-rod dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

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

rs_2147089334

1 SubmittersRCV001730122

NM_201253.3(CRB1):c.997G>C (p.Gly333Arg)

SNV
Germline

Chr1:197356839

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_778232235

3 SubmittersRCV001733784 RCV001861045 RCV003451871

NM_201548.5(CERKL):c.112C>T (p.Gln38Ter)

SNV
Germline

Chr2:181656895

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

rs_776566319

3 SubmittersRCV001753971 RCV003474018

NM_201253.3(CRB1):c.3091G>A (p.Asp1031Asn)

SNV
Germline

Chr1:197434954

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_373382907

3 SubmittersRCV001773937 RCV001882854 RCV004552000

NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)

SNV
Germline

Chr2:181604002

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 26

Criteria Provided
Conflicting Classifications

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

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

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

Criteria Provided
Conflicting Classifications

rs_370656150

2 SubmittersRCV001755610 RCV002074039

NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)

SNV
Germline

Chr4:15515919

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

rs_375247004

3 SubmittersRCV001753222 RCV001868722 RCV002478000

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

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

rs_1317871521

5 SubmittersRCV001775532 RCV003120686 RCV003470896 RCV004527431

NM_025130.4(HKDC1):c.173C>T (p.Thr58Met)

SNV
Germline

Chr10:69227316

Pathogenic

Retinitis pigmentosa 92

No Assertion Criteria Provided

rs_142379141

1 SubmittersRCV001779345

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

rs_2149358455

2 SubmittersRCV001780518 RCV003772134

NM_001142800.2(EYS):c.3244-1G>C

SNV
Germline

Chr6:64813578

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_2150016293

1 SubmittersRCV001781066

NM_006269.2(RP1):c.5248G>T (p.Glu1750Ter)

SNV
Germline

Chr8:54629130

Likely pathogenic

Retinitis pigmentosa 1

Criteria Provided
Single Submitter

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

Criteria Provided
Single Submitter

rs_2050148457

1 SubmittersRCV001783713

NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter)

SNV
Germline

Chr16:1523884

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1432688490

5 SubmittersRCV001795767 RCV002503283 RCV002541298 RCV003888321

NM_001354768.3(NRL):c.619C>T (p.Arg207Cys)

SNV
Unknown

Chr14:24081331

Likely pathogenic

Retinitis pigmentosa 27

Criteria Provided
Single Submitter

rs_2036279881

1 SubmittersRCV001799579

NM_006343.3(MERTK):c.2190-2A>G

SNV
Unknown

Chr2:112021420

Pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1380661508

3 SubmittersRCV001806792 RCV002541387 RCV003470922

NM_201253.3(CRB1):c.2128+1G>A

SNV
Germline

Chr1:197421957

Likely pathogenic

Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

rs_757834403

1 SubmittersRCV001813898

NM_031885.5(BBS2):c.-2T>G

SNV
Germline

Chr16:56519864

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_111296910

4 SubmittersRCV001822584 RCV002489883 RCV003325583 RCV004536344

NM_001142800.2(EYS):c.4532C>G (p.Ser1511Ter)

SNV
Germline

Chr6:64591335

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

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

rs_2067278631

1 SubmittersRCV002274221

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

rs_779066277

4 SubmittersRCV001844531 RCV002225940 RCV003888332

NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)

SNV
Germline

Chr1:215838103

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_200382994

5 SubmittersRCV001844784 RCV002543341 RCV003464157 RCV003888334

NM_201253.3(CRB1):c.2159A>T (p.Asp720Val)

SNV
Germline

Chr1:197427484

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Retinitis pigmentosa and erythrocytic microcytosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_370699359

2 SubmittersRCV001944847 RCV002478158

NM_201253.3(CRB1):c.3787A>T (p.Lys1263Ter)

SNV
Germline

Chr1:197438584

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_2125506218

1 SubmittersRCV001884818

NM_000329.3(RPE65):c.354-1G>T

SNV
Germline

Chr1:68444673

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

rs_2100827985

1 SubmittersRCV002004304

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

rs_1472885040

2 SubmittersRCV001989396 RCV003475274

NM_000329.3(RPE65):c.12-1G>C

SNV
Germline

Chr1:68448707

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

rs_1348031618

1 SubmittersRCV001963808

NM_002900.3(RBP3):c.3341G>A (p.Arg1114Gln)

SNV
Germline

Chr10:47355471

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 66

Criteria Provided
Conflicting Classifications

rs_201185969

3 SubmittersRCV001880369 RCV002468646

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

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

rs_771079655

1 SubmittersRCV001881511

NM_201253.3(CRB1):c.107C>A (p.Ser36Ter)

SNV
Germline

Chr1:197328458

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

rs_748465849

4 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

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

rs_1645879495

3 SubmittersRCV001993735 RCV003471214 RCV003773037

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

Criteria Provided
Conflicting Classifications

rs_566568065

2 SubmittersRCV002036692 RCV002486795

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

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

rs_2125499463

1 SubmittersRCV001904204

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

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

rs_56021047

2 SubmittersRCV001999882 RCV004571710

NM_201253.3(CRB1):c.4137C>G (p.Tyr1379Ter)

SNV
Germline

Chr1:197477795

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_1206810310

1 SubmittersRCV001941693

NM_206933.4(USH2A):c.7120+1G>A

SNV
Germline

Chr1:215965316

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_1667311758

2 SubmittersRCV002000554 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

rs_754338217

3 SubmittersRCV001871301 RCV002506957 RCV003289173

NM_201253.3(CRB1):c.358C>T (p.Gln120Ter)

SNV
Germline

Chr1:197328709

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1658671768

2 SubmittersRCV001936758 RCV003475192

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_757137398

2 SubmittersRCV001908346 RCV004571537

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

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

rs_755435330

2 SubmittersRCV001953352 RCV003475194

NM_014714.4(IFT140):c.2578-2A>G

SNV
Germline

Chr16:1526079

Likely pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1664671663

1 SubmittersRCV001995245

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

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

rs_757137398

1 SubmittersRCV001973133

NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu)

SNV
Germline

Chr1:68429788

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2100804954

2 SubmittersRCV001963988 RCV003471217

NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser)

SNV
Germline

Chr1:197421176

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

rs_1664290387

2 SubmittersRCV001995121 RCV002250793

NM_015662.3(IFT172):c.2866C>T (p.Gln956Ter)

SNV
Germline

Chr2:27458790

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

rs_2102796365

2 SubmittersRCV001970146 RCV003475228

NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter)

SNV
Germline

Chr1:216196587

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1308702971

4 SubmittersRCV001950926 RCV002469440 RCV003464309 RCV003453869

NM_001278293.3(ARL6):c.479+1G>A

SNV
Germline

Chr3:97788120

Likely pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Single Submitter

rs_1324418374

1 SubmittersRCV001998769

NM_014714.4(IFT140):c.2200-20A>G

SNV
Germline

Chr16:1558154

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

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

rs_779069205

1 SubmittersRCV002031648

NM_000329.3(RPE65):c.644-2A>C

SNV
Germline

Chr1:68439644

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

rs_61752891

1 SubmittersRCV001935730

NM_206933.4(USH2A):c.8002G>T (p.Glu2668Ter)

SNV
Germline

Chr1:215888647

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_2102460193

2 SubmittersRCV001907542 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

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

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

rs_2107977736

1 SubmittersRCV001987743

NM_152419.3(HGSNAT):c.974G>A (p.Gly325Glu)

SNV
Germline

Chr8:43178196

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

rs_753315223

1 SubmittersRCV001966989

NM_001142800.2(EYS):c.749-2A>G

SNV
Germline

Chr6:65490709

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_1766011028

3 SubmittersRCV002040255 RCV003464375 RCV003888991

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

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

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

rs_143954665

2 SubmittersRCV001952360 RCV002507606

NM_000329.3(RPE65):c.725+2T>A

SNV
Germline

Chr1:68439559

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_148663745

2 SubmittersRCV001964383 RCV002484861

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

rs_2102727387

2 SubmittersRCV001910773 RCV003471004

NM_201253.3(CRB1):c.2249G>T (p.Gly750Val)

SNV
Germline

Chr1:197427574

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_2125483925

3 SubmittersRCV001940368 RCV003238878 RCV003452164 RCV003452165

NM_000329.3(RPE65):c.1580A>G (p.His527Arg)

SNV
Germline

Chr1:68429798

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Leber congenital amaurosis 2

Reviewed By Expert Panel

rs_1194458561

3 SubmittersRCV001982688 RCV004527438 RCV004571683

NM_015662.3(IFT172):c.4311+5T>C

SNV
Germline

Chr2:27449289

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_756624999

2 SubmittersRCV001908608 RCV004552082

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

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

rs_2125354456

1 SubmittersRCV001943707

NM_201253.3(CRB1):c.1600A>G (p.Lys534Glu)

SNV
Germline

Chr1:197421428

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

rs_2149856835

2 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

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
Inborn genetic diseases
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

rs_140159548

3 SubmittersRCV001912199 RCV003339787 RCV002482609

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

rs_1239854361

3 SubmittersRCV001975189 RCV003324574 RCV003471194

NM_015662.3(IFT172):c.402+2T>G

SNV
Germline

Chr2:27483870

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

rs_774548930

2 SubmittersRCV002006167 RCV002497968

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

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

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

rs_1390479623

2 SubmittersRCV001910736 RCV002246599

NM_206933.4(USH2A):c.6957+1G>C

SNV
Germline

Chr1:215970624

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_150246251

2 SubmittersRCV001900954 RCV002490161

NM_006445.4(PRPF8):c.6978C>G (p.Tyr2326Ter)

SNV
Germline

Chr17:1650832

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 13

Criteria Provided
Conflicting Classifications

rs_773363890

2 SubmittersRCV001946129 RCV002471192

NM_201253.3(CRB1):c.2640T>G (p.Asn880Lys)

SNV
Germline

Chr1:197427965

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_2125485441

1 SubmittersRCV002009208

NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)

SNV
Germline

Chr1:216246615

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1438734382

5 SubmittersRCV002040066 RCV002307769 RCV003451986 RCV003451985

NM_014336.5(AIPL1):c.276+1G>A

SNV
Germline

Chr17:6433918

Pathogenic/Likely pathogenic

Leber congenital amaurosis 4
Retinitis pigmentosa
Leber congenital amaurosis 4

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1770111064

3 SubmittersRCV001899522 RCV003888364 RCV004571461

NM_152419.3(HGSNAT):c.1245C>A (p.Cys415Ter)

SNV
Germline

Chr8:43191590

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

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

rs_1312069480

2 SubmittersRCV002021914 RCV003471116

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

rs_1658692554

2 SubmittersRCV001912801 RCV003475151

NM_201253.3(CRB1):c.4005+2T>C

SNV
Germline

Chr1:197442294

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_2125514028

1 SubmittersRCV001994673

NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter)

SNV
Germline

Chr1:197427577

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1409490389

2 SubmittersRCV002035427 RCV003475209

NM_201253.3(CRB1):c.848+1G>A

SNV
Germline

Chr1:197344477

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_2125328634

2 SubmittersRCV001900241 RCV003475135

NM_205861.3(DHDDS):c.714G>A (p.Trp238Ter)

SNV
Germline

Chr1:26460093

Pathogenic

Retinitis pigmentosa 59

Criteria Provided
Single Submitter

rs_2124501559

1 SubmittersRCV001896662

NM_000329.3(RPE65):c.247T>C (p.Phe83Leu)

SNV
Germline

Chr1:68444882

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

rs_2100828545

1 SubmittersRCV001942144

NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)

SNV
Germline

Chr2:27445320

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

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

rs_745585873

2 SubmittersRCV001962952 RCV003471164

NM_201253.3(CRB1):c.3653G>C (p.Cys1218Ser)

SNV
Germline

Chr1:197435516

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_1450635782

1 SubmittersRCV002013759

NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser)

SNV
Germline

Chr16:1523950

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

rs_763140298

2 SubmittersRCV002013907 RCV002486672

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

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
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_998302546

3 SubmittersRCV001989163 RCV003324581 RCV003324580 RCV003446981 RCV003446982

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

rs_2105803582

2 SubmittersRCV002046207 RCV003475298

NM_000329.3(RPE65):c.405T>A (p.Asn135Lys)

SNV
Germline

Chr1:68444621

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

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

rs_2150319815

2 SubmittersRCV002031133 RCV003471281

NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg)

SNV
Germline

Chr16:1525930

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

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
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_1394948601

3 SubmittersRCV001893744 RCV003471017 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

rs_1054515897

2 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

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

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

rs_2130750698

1 SubmittersRCV001960510

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

rs_2148559396

2 SubmittersRCV002035036 RCV004552055

NM_201253.3(CRB1):c.2842+2T>C

SNV
Germline

Chr1:197429616

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_2125489334

1 SubmittersRCV002041452

NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter)

SNV
Germline

Chr8:43192376

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Multiple Submitters
No Conflicts

rs_1804568176

2 SubmittersRCV001877710 RCV003228806

NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg)

SNV
Germline

Chr1:197435305

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_2125500491

2 SubmittersRCV001951032 RCV003475229

NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter)

SNV
Germline

Chr2:27459815

Pathogenic/Likely pathogenic

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
Multiple Submitters
No Conflicts

rs_761095604

2 SubmittersRCV001972379 RCV002507702

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_2125304900

3 SubmittersRCV002037978 RCV002246640 RCV003446978 RCV003446979

NM_201253.3(CRB1):c.3878+1G>A

SNV
Germline

Chr1:197438676

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_748927280

1 SubmittersRCV002020594

NM_015662.3(IFT172):c.1005+10A>T

SNV
Germline

Chr2:27479499

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

Criteria Provided
Conflicting Classifications

rs_771534291

3 SubmittersRCV002044196 RCV002478095 RCV004552054

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

rs_970768801

2 SubmittersRCV001894137 RCV002503398

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

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

Criteria Provided
Conflicting Classifications

rs_2124374558

3 SubmittersRCV001966556 RCV002255191 RCV003152785

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

rs_2125501295

1 SubmittersRCV001991452

NM_201253.3(CRB1):c.2536G>A (p.Gly846Arg)

SNV
Germline

Chr1:197427861

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_539189291

1 SubmittersRCV001963012

NM_201253.3(CRB1):c.3988G>T (p.Glu1330Ter)

SNV
Germline

Chr1:197442275

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1372774777

2 SubmittersRCV001942337 RCV003475225

NM_000329.3(RPE65):c.725+2T>C

SNV
Germline

Chr1:68439559

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

rs_1355979496

1 SubmittersRCV001958678

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

rs_587783015

1 SubmittersRCV001956079

NM_201253.3(CRB1):c.1997T>A (p.Val666Asp)

SNV
Germline

Chr1:197421825

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_189395222

2 SubmittersRCV001956081 RCV004571740

NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)

SNV
Germline

Chr1:215648621

Pathogenic/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

rs_184351619

5 SubmittersRCV001956100 RCV002497885 RCV003453876 RCV003453877

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

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

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

rs_2130648749

1 SubmittersRCV002000919

NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr)

SNV
Germline

Chr16:1568270

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

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

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

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

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

rs_1471328495

3 SubmittersRCV002019364 RCV003475279 RCV003888988

NM_201253.3(CRB1):c.3419T>A (p.Leu1140Ter)

SNV
Germline

Chr1:197435282

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_1342970033

1 SubmittersRCV001944050

NM_014714.4(IFT140):c.482C>A (p.Pro161His)

SNV
Germline

Chr16:1592476

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Conflicting Classifications

rs_191927317

2 SubmittersRCV001909274 RCV002490239

NM_201253.3(CRB1):c.2393T>A (p.Leu798Ter)

SNV
Germline

Chr1:197427718

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_2125484499

1 SubmittersRCV001918230

NM_144596.4(TTC8):c.145-10T>C

SNV
Germline

Chr14:88839442

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Retinitis pigmentosa 51
Bardet-Biedl syndrome 8

Criteria Provided
Conflicting Classifications

rs_754997963

2 SubmittersRCV001935799 RCV002479412

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

rs_2148477195

1 SubmittersRCV002026903

NM_206933.4(USH2A):c.11806A>C (p.Thr3936Pro)

SNV
Germline

Chr1:215728290

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_2102713705

2 SubmittersRCV002026997 RCV004571989

NM_015662.3(IFT172):c.877G>A (p.Ala293Thr)

SNV
Germline

Chr2:27480058

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_370903625

2 SubmittersRCV001863567 RCV003164055

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

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

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

rs_1421392730

2 SubmittersRCV001863426 RCV004571431

NM_201253.3(CRB1):c.852T>A (p.Tyr284Ter)

SNV
Germline

Chr1:197347343

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_1046799192

1 SubmittersRCV001907778

NM_206933.4(USH2A):c.2167+15A>G

SNV
Germline

Chr1:216250888

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

rs_2130810560

1 SubmittersRCV001973705

NM_152419.3(HGSNAT):c.847C>T (p.Pro283Ser)

SNV
Germline

Chr8:43173739

Likely pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

rs_2130754863

1 SubmittersRCV002009085

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

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

rs_2150351826

2 SubmittersRCV002021183 RCV004571984

NM_205861.3(DHDDS):c.565G>A (p.Asp189Asn)

SNV
Germline

Chr1:26457813

Conflicting classifications of pathogenicity

Retinitis pigmentosa 59
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_748833924

3 SubmittersRCV002039943 RCV002547894 RCV003883711

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

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

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

rs_1207818522

2 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
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2125506459

4 SubmittersRCV001986193 RCV002492273 RCV003453932 RCV003453931 RCV003453933

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

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

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
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

rs_752059469

2 SubmittersRCV002022445 RCV002486640

NM_152419.3(HGSNAT):c.1543-2A>G

SNV
Germline

Chr8:43197670

Likely pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

rs_1804769861

1 SubmittersRCV002045234

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

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
Single Submitter

rs_1324229618

1 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

Criteria Provided
Conflicting Classifications

rs_148462329

2 SubmittersRCV002038579 RCV002507824

NM_205861.3(DHDDS):c.441-2A>T

SNV
Germline

Chr1:26447557

Likely pathogenic

Retinitis pigmentosa 59

Criteria Provided
Single Submitter

rs_922956992

1 SubmittersRCV002043905

NM_001142800.2(EYS):c.8309T>C (p.Leu2770Pro)

SNV
Germline

Chr6:63721722

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_1186771860

2 SubmittersRCV002038632 RCV003471279

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

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

rs_183261797

2 SubmittersRCV001981015 RCV002507764

NM_201253.3(CRB1):c.4029C>T (p.Asp1343=)

SNV
Germline

Chr1:197477687

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_780087216

2 SubmittersRCV002161543 RCV003889090

NM_015662.3(IFT172):c.4611C>T (p.Ile1537=)

SNV
Germline

Chr2:27447563

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_901644807

2 SubmittersRCV002196502 RCV003889099

NM_015662.3(IFT172):c.4950T>G (p.Leu1650=)

SNV
Germline

Chr2:27445414

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1238278691

2 SubmittersRCV002103182 RCV003889044

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

rs_2125499764

2 SubmittersRCV002087318 RCV003889016

NM_201253.3(CRB1):c.2018A>G (p.Lys673Arg)

SNV
Germline

Chr1:197421846

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_145956521

2 SubmittersRCV002135605 RCV003061773

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

rs_559611648

2 SubmittersRCV002213404 RCV004526908

NM_015662.3(IFT172):c.337-5C>T

SNV
Germline

Chr2:27483942

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

rs_141086523

3 SubmittersRCV002207760 RCV004045675 RCV004553690

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

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

rs_267601690

1 SubmittersRCV002225214

NM_000329.3(RPE65):c.938A>G (p.His313Arg)

SNV
Germline

Chr1:68439002

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy

Reviewed By Expert Panel

rs_1375943362

5 SubmittersRCV002226568 RCV003101291 RCV003987987 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

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
Retinitis pigmentosa
Cone-rod dystrophy 16

Criteria Provided
Conflicting Classifications

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

rs_2146437002

1 SubmittersRCV002246221

NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly)

SNV
Germline

Chr6:42721800

Likely pathogenic

Pigmentary retinal dystrophy
Retinitis pigmentosa 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_61755796

2 SubmittersRCV002249143 RCV003152791

NM_001034853.2(RPGR):c.2140G>T (p.Glu714Ter)

SNV
Germline

ChrX:38286859

Likely pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

rs_2147199519

1 SubmittersRCV002249154

NM_001034853.2(RPGR):c.29-2A>G

SNV
Germline

ChrX:38323526

Likely pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

rs_2147291936

1 SubmittersRCV002249155

NM_001142800.2(EYS):c.8236G>T (p.Asp2746Tyr)

SNV
Germline

Chr6:63721795

Pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

rs_1349879153

1 SubmittersRCV002249943

NM_000440.3(PDE6A):c.1838+1G>A

SNV
Germline

Chr5:149886264

Pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

rs_2113558095

1 SubmittersRCV002250182

NM_001375654.1(RP1):c.2212-1G>A

SNV
Germline

Chr8:54720128

Pathogenic

Retinitis pigmentosa 1

Criteria Provided
Single Submitter

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

rs_2147190626

3 SubmittersRCV002250297

NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter)

SNV
Germline

ChrX:38286529

Pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

rs_2147197584

1 SubmittersRCV002250299

NM_001201543.2(FAM161A):c.1852-2A>T

SNV
Germline

Chr2:61827260

Pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

rs_1672402787

1 SubmittersRCV002250984

NM_001034853.2(RPGR):c.2257G>T (p.Gly753Ter)

SNV
Germline

ChrX:38286742

Pathogenic/Likely pathogenic

Retinitis pigmentosa 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_267606453

2 SubmittersRCV002251050 RCV002464522

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

rs_773382223

2 SubmittersRCV002251087 RCV003101370

NM_000539.3(RHO):c.851G>A (p.Gly284Asp)

SNV
Germline

Chr3:129532687

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

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

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

rs_1676862579

1 SubmittersRCV002255114

NM_005869.4(CWC27):c.397-1G>A

SNV
Unknown

Chr5:64785480

Likely pathogenic

Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

Criteria Provided
Single Submitter

rs_2112169750

1 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_139234943

2 SubmittersRCV002262185 RCV003095955

NM_000283.4(PDE6B):c.1775C>T (p.Thr592Ile)

SNV
Germline

Chr4:662561

Likely pathogenic

Retinitis pigmentosa 40

Criteria Provided
Single Submitter

rs_747684283

1 SubmittersRCV002271996

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

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

1 SubmittersRCV002281669

NM_000350.3(ABCA4):c.1698C>G (p.His566Gln)

SNV
Germline

Chr1:94063174

Pathogenic

Retinitis pigmentosa 19

Criteria Provided
Single Submitter

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

2 SubmittersRCV002282842 RCV003471307

NM_174878.3(CLRN1):c.253+6T>C

SNV
Germline

Chr3:150972450

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 61

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002284799 RCV003471314

NM_206933.4(USH2A):c.10817T>C (p.Leu3606Pro)

SNV
Germline

Chr1:215779965

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002287043 RCV003471315

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

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

1 SubmittersRCV002288406

NM_001164665.2(KIAA1549):c.4519C>T (p.Arg1507Ter)

SNV
Germline

Chr7:138871189

Likely pathogenic

Retinitis pigmentosa 86

Criteria Provided
Single Submitter

1 SubmittersRCV002289427

NM_201253.3(CRB1):c.2420T>G (p.Leu807Arg)

SNV
Germline

Chr1:197427745

Likely pathogenic

Retinitis pigmentosa 12

No Assertion Criteria Provided

1 SubmittersRCV002291111

NM_001319074.4(RAX2):c.145T>C (p.Ser49Pro)

SNV
Germline

Chr19:3771598

Pathogenic

Retinitis pigmentosa 95

No Assertion Criteria Provided

1 SubmittersRCV002294542

NM_006343.3(MERTK):c.2194C>T (p.Arg732Ter)

SNV
Germline

Chr2:112021426

Likely pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

1 SubmittersRCV003108009

NM_014714.4(IFT140):c.1155+1G>A

SNV
Germline

Chr16:1586129

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV002308671

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

2 SubmittersRCV002308735 RCV003464446

NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)

SNV
Unknown

Chr1:216247125

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002310316 RCV003464447

NM_001142800.2(EYS):c.7331T>A (p.Phe2444Tyr)

SNV
Germline

Chr6:63806270

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV002444353

NM_001142800.2(EYS):c.2041G>T (p.Asp681Tyr)

SNV
Germline

Chr6:65057710

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV002444357

NM_001142800.2(EYS):c.2992+1G>A

SNV
Germline

Chr6:64886696

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

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

2 SubmittersRCV002444360 RCV003103036

NM_001142800.2(EYS):c.7327G>T (p.Glu2443Ter)

SNV
Germline

Chr6:63806274

Pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV002444361

NM_001142800.2(EYS):c.7328A>C (p.Glu2443Ala)

SNV
Germline

Chr6:63806273

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV002444362

NM_001034853.2(RPGR):c.1753+2T>G

SNV
Unknown

ChrX:38287859

Likely pathogenic

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
Single Submitter

1 SubmittersRCV002465050

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

2 SubmittersRCV002466929 RCV003669320

NM_015662.3(IFT172):c.786-2A>T

SNV
Germline

Chr2:27480151

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002471620 RCV002571459

NM_001278293.3(ARL6):c.534A>G (p.Gln178=)

SNV
Germline

Chr3:97791825

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002471841 RCV003775513

NM_001142800.2(EYS):c.7187G>C (p.Cys2396Ser)

SNV
Germline

Chr6:63864227

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002473986 RCV004526932

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

2 SubmittersRCV003465940 RCV003058798

NM_201253.3(CRB1):c.3166G>C (p.Asp1056His)

SNV
Germline

Chr1:197435029

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV003053333

NM_015662.3(IFT172):c.3130C>T (p.Arg1044Ter)

SNV
Germline

Chr2:27457737

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003058907

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

1 SubmittersRCV003068133

NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)

SNV
Germline

Chr1:68438276

Pathogenic/Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003065733 RCV004572741

NM_000329.3(RPE65):c.61G>T (p.Glu21Ter)

SNV
Germline

Chr1:68448657

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

1 SubmittersRCV003061518

NM_206933.4(USH2A):c.13531G>A (p.Ala4511Thr)

SNV
Germline

Chr1:215674380

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003061528 RCV003459736

NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)

SNV
Germline

Chr1:215786726

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003079016 RCV003388149 RCV003465946 RCV003455689

NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)

SNV
Germline

Chr1:216048614

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003079018 RCV003226567 RCV003455690

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

2 SubmittersRCV003079244 RCV003989145

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

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

2 SubmittersRCV002610139 RCV003410098

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

2 SubmittersRCV002615637 RCV003459757

NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)

SNV
Germline

Chr8:43192380

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002632455 RCV003111629 RCV003235773

NM_001201543.2(FAM161A):c.493C>T (p.Gln165Ter)

SNV
Germline

Chr2:61840511

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 28

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002592284 RCV003459755

NM_201253.3(CRB1):c.4005+2T>G

SNV
Germline

Chr1:197442294

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002651390

NM_201253.3(CRB1):c.4006-1G>A

SNV
Germline

Chr1:197477663

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002651391

NM_206933.4(USH2A):c.13546G>T (p.Gly4516Trp)

SNV
Germline

Chr1:215674365

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002651404 RCV003459770

NM_206933.4(USH2A):c.9449G>A (p.Trp3150Ter)

SNV
Germline

Chr1:215817118

Pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003459771 RCV002651408

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

2 SubmittersRCV002664209 RCV003475521

NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)

SNV
Germline

Chr1:68444818

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV002634293

NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)

SNV
Germline

Chr1:68444819

Pathogenic/Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002634294 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
not specified
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002651385 RCV003324081 RCV003455743 RCV003455745 RCV003455744

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

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

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

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

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

1 SubmittersRCV002651389

NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)

SNV
Germline

Chr1:197442201

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002664202 RCV003475520

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

1 SubmittersRCV002633018

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

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

2 SubmittersRCV002651782 RCV003324588

NM_144596.4(TTC8):c.677G>A (p.Trp226Ter)

SNV
Germline

Chr14:88853023

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa 51

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003104968 RCV003459776

NM_152419.3(HGSNAT):c.494-1G>A

SNV
Germline

Chr8:43161437

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

1 SubmittersRCV003112196

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

2 SubmittersRCV003116994 RCV003459780

NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro)

SNV
Germline

Chr1:197435008

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002594786

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

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

2 SubmittersRCV002613395 RCV003475402

NM_206933.4(USH2A):c.1571C>A (p.Ala524Asp)

SNV
Germline

Chr1:216321956

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002594411 RCV003465791

NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)

SNV
Germline

Chr1:197421233

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002614384 RCV003475405

NM_015662.3(IFT172):c.952C>T (p.Arg318Ter)

SNV
Germline

Chr2:27479562

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002649503

NM_201253.3(CRB1):c.549C>A (p.Cys183Ter)

SNV
Germline

Chr1:197328900

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003475411 RCV002671469

NM_152419.3(HGSNAT):c.744-2A>C

SNV
Germline

Chr8:43172308

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

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

1 SubmittersRCV002676048

NM_201253.3(CRB1):c.2885T>A (p.Leu962Ter)

SNV
Germline

Chr1:197434748

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

2 SubmittersRCV002720392 RCV003138334

NM_201253.3(CRB1):c.3913C>G (p.Pro1305Ala)

SNV
Germline

Chr1:197442200

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002686099

NM_201253.3(CRB1):c.2695G>A (p.Gly899Arg)

SNV
Germline

Chr1:197429467

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

2 SubmittersRCV002716617 RCV004571222

NM_206933.4(USH2A):c.497A>G (p.Glu166Gly)

SNV
Germline

Chr1:216418668

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002766908 RCV003464595

NM_201253.3(CRB1):c.1171+1G>A

SNV
Germline

Chr1:197357014

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002790651

NM_201253.3(CRB1):c.2264T>C (p.Leu755Ser)

SNV
Germline

Chr1:197427589

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002776168

NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)

SNV
Germline

Chr8:43140502

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002751093 RCV002751092

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

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

2 SubmittersRCV002805640 RCV003889161

NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter)

SNV
Germline

Chr1:68431117

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

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

2 SubmittersRCV002824280

NM_201253.3(CRB1):c.585C>G (p.Cys195Trp)

SNV
Germline

Chr1:197328936

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002828472

NM_152419.3(HGSNAT):c.634-2A>G

SNV
Germline

Chr8:43170583

Likely pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

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

2 SubmittersRCV002816257 RCV003464606

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

1 SubmittersRCV002832951

NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)

SNV
Germline

Chr1:68431327

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

1 SubmittersRCV002829784

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

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

1 SubmittersRCV002856929

NM_015662.3(IFT172):c.336+2T>G

SNV
Germline

Chr2:27484225

Likely pathogenic

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

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV002833622 RCV003475431

NM_152419.3(HGSNAT):c.563+1G>C

SNV
Germline

Chr8:43161508

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

1 SubmittersRCV002838585

NM_152419.3(HGSNAT):c.969C>A (p.Cys323Ter)

SNV
Germline

Chr8:43178191

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

1 SubmittersRCV002857521

NM_201253.3(CRB1):c.1312T>A (p.Cys438Ser)

SNV
Germline

Chr1:197421140

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002858692

NM_201253.3(CRB1):c.975T>A (p.Cys325Ter)

SNV
Germline

Chr1:197347466

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

1 SubmittersRCV002885100

NM_201253.3(CRB1):c.117C>A (p.Cys39Ter)

SNV
Germline

Chr1:197328468

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002853215

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

2 SubmittersRCV002872027 RCV003465854

NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)

SNV
Germline

Chr1:197438650

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided

Criteria Provided
Conflicting Classifications

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

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

1 SubmittersRCV002866943

NM_152419.3(HGSNAT):c.494-2A>G

SNV
Germline

Chr8:43161436

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

1 SubmittersRCV002848255

NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)

SNV
Germline

Chr1:68444615

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

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

2 SubmittersRCV002872787 RCV004571799

NM_201253.3(CRB1):c.3532A>G (p.Ile1178Val)

SNV
Germline

Chr1:197435395

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

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

2 SubmittersRCV002908609 RCV003464636

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

2 SubmittersRCV002885295 RCV003464627

NM_206933.4(USH2A):c.5566G>T (p.Glu1856Ter)

SNV
Germline

Chr1:216078095

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002917610 RCV003464635 RCV003889175

NM_015662.3(IFT172):c.2233C>T (p.Gln745Ter)

SNV
Germline

Chr2:27461478

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002889930

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

1 SubmittersRCV002909353

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

2 SubmittersRCV002971109 RCV003464643

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

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

2 SubmittersRCV002971606 RCV004572482

NM_201253.3(CRB1):c.2087G>A (p.Cys696Tyr)

SNV
Germline

Chr1:197421915

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002949588

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

2 SubmittersRCV002979370 RCV003465880

NM_206933.4(USH2A):c.6326-1G>T

SNV
Germline

Chr1:216000563

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003030790 RCV004572548

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

2 SubmittersRCV003019128 RCV004572549

NM_001278293.3(ARL6):c.350-2A>C

SNV
Germline

Chr3:97787988

Likely pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

1 SubmittersRCV003022773

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

2 SubmittersRCV003014437 RCV003146731

NM_015662.3(IFT172):c.2521+1G>A

SNV
Germline

Chr2:27461014

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003018642

NM_201253.3(CRB1):c.2833G>C (p.Gly945Arg)

SNV
Germline

Chr1:197429605

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV003018726

NM_201253.3(CRB1):c.1840G>C (p.Gly614Arg)

SNV
Germline

Chr1:197421668

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV003023276

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

3 SubmittersRCV003032078 RCV003465900 RCV003777039

NM_201253.3(CRB1):c.1181G>T (p.Cys394Phe)

SNV
Germline

Chr1:197421009

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

1 SubmittersRCV003029396

NM_001278293.3(ARL6):c.127C>T (p.Gln43Ter)

SNV
Germline

Chr3:97780162

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003026759

NM_206933.4(USH2A):c.2692C>T (p.Gln898Ter)

SNV
Germline

Chr1:216246702

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003465899 RCV003029090

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

Criteria Provided
Single Submitter

1 SubmittersRCV003049449

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

Criteria Provided
Single Submitter

1 SubmittersRCV003049497

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

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

2 SubmittersRCV003033260 RCV003459710

NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter)

SNV
Germline

Chr1:68431351

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003059569

NM_206933.4(USH2A):c.14583-1G>T

SNV
Germline

Chr1:215647731

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003056436 RCV003445198

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

1 SubmittersRCV003044731

NM_201253.3(CRB1):c.716G>A (p.Cys239Tyr)

SNV
Germline

Chr1:197344344

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV003050338

NM_201253.3(CRB1):c.2129-2A>C

SNV
Germline

Chr1:197427452

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

1 SubmittersRCV003052437

NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)

SNV
Germline

Chr1:215965390

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002789978 RCV003466008

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

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

1 SubmittersRCV003148478

NM_001379270.1(CNGA1):c.610G>A (p.Asp204Asn)

SNV
Germline

Chr4:47940805

Pathogenic

Retinitis pigmentosa 49

No Assertion Criteria Provided

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

1 SubmittersRCV003152655

NM_014714.4(IFT140):c.1246C>T (p.Gln416Ter)

SNV
Unknown

Chr16:1584330

Pathogenic

Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV003152928

NM_033100.4(CDHR1):c.1168-1G>A

SNV
Germline

Chr10:84208728

Pathogenic

Retinitis pigmentosa 65

No Assertion Criteria Provided

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

1 SubmittersRCV003159286

NM_015629.4(PRPF31):c.1074-1G>C

SNV
Unknown

Chr19:54128304

Likely pathogenic

Retinitis pigmentosa 11

Criteria Provided
Single Submitter

1 SubmittersRCV003224916

NM_206933.4(USH2A):c.12698G>A (p.Trp4233Ter)

SNV
Unknown

Chr1:215675213

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003224961

NM_003322.6(TULP1):c.1113-1G>T

SNV
Germline

Chr6:35503849

Likely pathogenic

Retinitis pigmentosa 14

Criteria Provided
Single Submitter

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

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

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

2 SubmittersRCV003226694 RCV003475546

NM_000539.3(RHO):c.888G>T (p.Lys296Asn)

SNV
Germline

Chr3:129532724

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV003228228

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

2 SubmittersRCV003228863 RCV003475547

NM_206933.4(USH2A):c.784+14389G>T

SNV
Germline

Chr1:216350564

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003231057

NM_001142800.2(EYS):c.5098A>T (p.Lys1700Ter)

SNV
Germline

Chr6:64590769

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV003234982

NM_201253.3(CRB1):c.1459T>C (p.Ser487Pro)

SNV
Unknown

Chr1:197421287

Likely pathogenic

Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV003314447

NM_005869.4(CWC27):c.669+1G>A

SNV
Germline

Chr5:64789021

Pathogenic

Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003492865

NM_001142800.2(EYS):c.4100C>A (p.Ser1367Ter)

SNV
Germline

Chr6:64591767

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV003324695

NM_001142800.2(EYS):c.7228G>A (p.Ala2410Thr)

SNV
Germline

Chr6:63864186

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV003324697

NM_006343.3(MERTK):c.2209G>T (p.Val737Phe)

SNV
Germline

Chr2:112021441

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV003324701

NM_001386393.1(PANK2):c.1129G>A (p.Glu377Lys)

SNV
Germline

Chr20:3916973

Pathogenic

Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Pigmentary pallidal degeneration

Criteria Provided
Single Submitter

1 SubmittersRCV003326731

NM_000539.3(RHO):c.400G>A (p.Glu134Lys)

SNV
Unknown

Chr3:129530914

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

1 SubmittersRCV003389582

NM_000539.3(RHO):c.489G>A (p.Met163Ile)

SNV
Unknown

Chr3:129531003

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

1 SubmittersRCV003389585

NM_206933.4(USH2A):c.1106T>A (p.Val369Glu)

SNV
Unknown

Chr1:216325342

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003389586

NM_001379270.1(CNGA1):c.1448T>G (p.Leu483Arg)

SNV
Germline

Chr4:47937034

Likely pathogenic

Retinitis pigmentosa 49

Criteria Provided
Single Submitter

1 SubmittersRCV003389598

NM_000883.4(IMPDH1):c.1417T>C (p.Ser473Pro)

SNV
Unknown

Chr7:128395022

Likely pathogenic

Retinitis pigmentosa 10

Criteria Provided
Single Submitter

1 SubmittersRCV003389600

NM_206933.4(USH2A):c.13654T>C (p.Trp4552Arg)

SNV
Germline

Chr1:215674257

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003389613

NM_000539.3(RHO):c.329G>T (p.Cys110Phe)

SNV
Germline

Chr3:129529062

Pathogenic/Likely pathogenic

Retinitis pigmentosa 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003389621 RCV003553893

NM_000283.4(PDE6B):c.293G>C (p.Arg98Pro)

SNV
Germline

Chr4:625919

Likely pathogenic

Retinitis pigmentosa 40

Criteria Provided
Single Submitter

1 SubmittersRCV003397223

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

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

3 SubmittersRCV003442367 RCV003459863

NM_000350.3(ABCA4):c.6386+4A>G

SNV
Germline

Chr1:94000998

Likely pathogenic

Retinitis pigmentosa 19

No Assertion Criteria Provided

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

2 SubmittersRCV003445395 RCV003553939

NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)

SNV
Germline

ChrX:38285761

Likely pathogenic

Retinitis pigmentosa 3
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Macular degeneration, X-linked atrophic
X-linked cone-rod dystrophy 1

Criteria Provided
Single Submitter

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

2 SubmittersRCV003448533 RCV003525415

NM_205861.3(DHDDS):c.705T>A (p.Tyr235Ter)

SNV
Unknown

Chr1:26460084

Likely pathogenic

Retinitis pigmentosa 59

Criteria Provided
Single Submitter

1 SubmittersRCV003466162

NM_205861.3(DHDDS):c.568A>T (p.Lys190Ter)

SNV
Unknown

Chr1:26457816

Likely pathogenic

Retinitis pigmentosa 59

Criteria Provided
Single Submitter

1 SubmittersRCV003459959

NM_206933.4(USH2A):c.12446G>A (p.Trp4149Ter)

SNV
Unknown

Chr1:215675465

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466499

NM_206933.4(USH2A):c.8559-1G>C

SNV
Unknown

Chr1:215877881

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464782

NM_206933.4(USH2A):c.89T>A (p.Leu30Ter)

SNV
Unknown

Chr1:216422248

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

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

2 SubmittersRCV003466501 RCV003575107

NM_206933.4(USH2A):c.7037A>G (p.His2346Arg)

SNV
Unknown

Chr1:215965400

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466502

NM_206933.4(USH2A):c.811C>T (p.Gln271Ter)

SNV
Unknown

Chr1:216327628

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464786

NM_206933.4(USH2A):c.6325+2T>G

SNV
Unknown

Chr1:216046429

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464787

NM_206933.4(USH2A):c.14802C>G (p.Tyr4934Ter)

SNV
Unknown

Chr1:215640724

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464788

NM_206933.4(USH2A):c.11884G>T (p.Glu3962Ter)

SNV
Unknown

Chr1:215728212

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464790

NM_206933.4(USH2A):c.5168G>A (p.Gly1723Glu)

SNV
Unknown

Chr1:216083586

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464792

NM_206933.4(USH2A):c.12987T>A (p.Tyr4329Ter)

SNV
Unknown

Chr1:215674924

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464798

NM_206933.4(USH2A):c.4945G>T (p.Gly1649Ter)

SNV
Unknown

Chr1:216086761

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464800

NM_206933.4(USH2A):c.6084T>A (p.Tyr2028Ter)

SNV
Unknown

Chr1:216048613

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464801

NM_206933.4(USH2A):c.850G>T (p.Glu284Ter)

SNV
Unknown

Chr1:216325598

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466504

NM_206933.4(USH2A):c.2440C>T (p.Gln814Ter)

SNV
Unknown

Chr1:216246954

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464805

NM_206933.4(USH2A):c.8223+1G>T

SNV
Unknown

Chr1:215888425

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464807

NM_206933.4(USH2A):c.10643C>A (p.Ser3548Ter)

SNV
Unknown

Chr1:215782139

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464808

NM_206933.4(USH2A):c.14802C>A (p.Tyr4934Ter)

SNV
Unknown

Chr1:215640724

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464809

NM_206933.4(USH2A):c.6520G>T (p.Glu2174Ter)

SNV
Germline

Chr1:215999024

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003464811 RCV003689101

NM_206933.4(USH2A):c.6269T>G (p.Leu2090Ter)

SNV
Unknown

Chr1:216046487

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464813

NM_206933.4(USH2A):c.1190T>A (p.Ile397Lys)

SNV
Unknown

Chr1:216324306

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466505

NM_206933.4(USH2A):c.6193A>T (p.Lys2065Ter)

SNV
Unknown

Chr1:216046563

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466506

NM_206933.4(USH2A):c.9911T>G (p.Leu3304Ter)

SNV
Unknown

Chr1:215798954

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464814

NM_206933.4(USH2A):c.1823G>A (p.Cys608Tyr)

SNV
Unknown

Chr1:216292192

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464817

NM_206933.4(USH2A):c.14792-1G>T

SNV
Unknown

Chr1:215640735

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464818

NM_206933.4(USH2A):c.13543C>T (p.Gln4515Ter)

SNV
Unknown

Chr1:215674368

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464819

NM_206933.4(USH2A):c.13301C>G (p.Ser4434Ter)

SNV
Unknown

Chr1:215674610

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464820

NM_206933.4(USH2A):c.3932C>A (p.Ser1311Ter)

SNV
Unknown

Chr1:216198464

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466509

NM_206933.4(USH2A):c.10953C>G (p.Tyr3651Ter)

SNV
Unknown

Chr1:215766775

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003474206

NM_206933.4(USH2A):c.14586T>G (p.Tyr4862Ter)

SNV
Unknown

Chr1:215647727

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003474207

NM_206933.4(USH2A):c.2647G>T (p.Glu883Ter)

SNV
Unknown

Chr1:216246747

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV003474217

NM_206933.4(USH2A):c.14133+1G>A

SNV
Unknown

Chr1:215670971

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003474219

NM_206933.4(USH2A):c.15053-2A>G

SNV
Unknown

Chr1:215634705

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003474225

NM_206933.4(USH2A):c.13856C>G (p.Ser4619Ter)

SNV
Unknown

Chr1:215671249

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003474226

NM_206933.4(USH2A):c.4396+1G>A

SNV
Unknown

Chr1:216190222

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003474227

NM_206933.4(USH2A):c.8500G>T (p.Glu2834Ter)

SNV
Unknown

Chr1:215878822

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003474228

NM_206933.4(USH2A):c.4585A>T (p.Lys1529Ter)

SNV
Unknown

Chr1:216175294

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003474229

NM_206933.4(USH2A):c.652-1G>A

SNV
Unknown

Chr1:216365086

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003474232

NM_206933.4(USH2A):c.3811+2T>A

SNV
Unknown

Chr1:216199625

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466512

NM_206933.4(USH2A):c.6569G>A (p.Trp2190Ter)

SNV
Unknown

Chr1:215998975

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466514

NM_206933.4(USH2A):c.2989G>T (p.Gly997Ter)

SNV
Unknown

Chr1:216231957

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

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

2 SubmittersRCV003464827 RCV003699114

NM_206933.4(USH2A):c.6657+2T>C

SNV
Unknown

Chr1:215998885

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464828

NM_206933.4(USH2A):c.9120G>A (p.Trp3040Ter)

SNV
Unknown

Chr1:215844432

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466518

NM_206933.4(USH2A):c.3811+1G>A

SNV
Unknown

Chr1:216199626

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466520

NM_206933.4(USH2A):c.9846T>A (p.Cys3282Ter)

SNV
Unknown

Chr1:215799019

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466521

NM_206933.4(USH2A):c.3222G>A (p.Trp1074Ter)

SNV
Unknown

Chr1:216207367

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466522

NM_206933.4(USH2A):c.4225C>T (p.Gln1409Ter)

SNV
Unknown

Chr1:216196579

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464833

NM_206933.4(USH2A):c.13189G>T (p.Glu4397Ter)

SNV
Unknown

Chr1:215674722

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464837

NM_206933.4(USH2A):c.8906C>G (p.Ser2969Ter)

SNV
Unknown

Chr1:215845973

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464839

NM_206933.4(USH2A):c.633G>A (p.Trp211Ter)

SNV
Unknown

Chr1:216418532

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466526

NM_206933.4(USH2A):c.1062G>A (p.Trp354Ter)

SNV
Unknown

Chr1:216325386

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464843

NM_206933.4(USH2A):c.3266T>A (p.Leu1089Ter)

SNV
Unknown

Chr1:216207323

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466529

NM_206933.4(USH2A):c.6657+1G>T

SNV
Unknown

Chr1:215998886

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464845

NM_206933.4(USH2A):c.15298-2A>C

SNV
Unknown

Chr1:215629037

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464846

NM_206933.4(USH2A):c.9258+2T>C

SNV
Unknown

Chr1:215844292

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464849

NM_206933.4(USH2A):c.7018C>T (p.Gln2340Ter)

SNV
Unknown

Chr1:215965419

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466531

NM_206933.4(USH2A):c.3523C>T (p.Gln1175Ter)

SNV
Unknown

Chr1:216199915

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003466532

NM_206933.4(USH2A):c.13515T>A (p.Tyr4505Ter)

SNV
Unknown

Chr1:215674396

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

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

2 SubmittersRCV003466533 RCV003732598

NM_206933.4(USH2A):c.7594+1G>A

SNV
Unknown

Chr1:215900074

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV003464855

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

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

1 SubmittersRCV003466535

NM_144596.4(TTC8):c.214G>T (p.Glu72Ter)

SNV
Unknown

Chr14:88839521

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV003464733

NM_144596.4(TTC8):c.1348-1G>A

SNV
Unknown

Chr14:88875025

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV003464735

NM_144596.4(TTC8):c.1224+1G>C

SNV
Unknown

Chr14:88871724

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV003464736

NM_144596.4(TTC8):c.949G>T (p.Glu317Ter)

SNV
Unknown

Chr14:88870098

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV003464739

NM_144596.4(TTC8):c.94G>T (p.Glu32Ter)

SNV
Unknown

Chr14:88824801

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

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

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

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

2 SubmittersRCV003468486 RCV003689104

NM_174878.3(CLRN1):c.433+1G>T

SNV
Unknown

Chr3:150941581

Likely pathogenic

Retinitis pigmentosa 61

Criteria Provided
Single Submitter

1 SubmittersRCV003468488

NM_174878.3(CLRN1):c.496G>T (p.Glu166Ter)

SNV
Unknown

Chr3:150928139

Likely pathogenic

Retinitis pigmentosa 61

Criteria Provided
Single Submitter

1 SubmittersRCV003468490

NM_201253.3(CRB1):c.2172T>A (p.Tyr724Ter)

SNV
Germline

Chr1:197427497

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003475747 RCV003779164

NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)

SNV
Germline

Chr1:197328975

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003475761 RCV003779166

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

2 SubmittersRCV003460055 RCV003738467

NM_001142800.2(EYS):c.95G>A (p.Trp32Ter)

SNV
Unknown

Chr6:65495316

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468007

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

2 SubmittersRCV003468008 RCV003679215

NM_001142800.2(EYS):c.5928-1G>A

SNV
Unknown

Chr6:64388841

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003468013 RCV003779015

NM_001142800.2(EYS):c.1338G>A (p.Trp446Ter)

SNV
Unknown

Chr6:65353579

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468015

NM_001142800.2(EYS):c.6725+1G>T

SNV
Unknown

Chr6:64066337

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468016

NM_001142800.2(EYS):c.9013G>T (p.Glu3005Ter)

SNV
Unknown

Chr6:63721018

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468017

NM_001142800.2(EYS):c.927C>A (p.Cys309Ter)

SNV
Unknown

Chr6:65405303

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468018

NM_001142800.2(EYS):c.2847-2A>G

SNV
Unknown

Chr6:64886844

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468019

NM_001142800.2(EYS):c.7126G>T (p.Glu2376Ter)

SNV
Unknown

Chr6:63864288

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

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

2 SubmittersRCV003468022 RCV003553952

NM_001142800.2(EYS):c.1600-1G>T

SNV
Unknown

Chr6:65335147

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003460063

NM_001142800.2(EYS):c.2716G>T (p.Glu906Ter)

SNV
Unknown

Chr6:64902426

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468023

NM_001142800.2(EYS):c.1184+1G>T

SNV
Unknown

Chr6:65402477

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468024

NM_001142800.2(EYS):c.5645-1G>A

SNV
Germline

Chr6:64439353

Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003460065 RCV003549099

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

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

1 SubmittersRCV003460066

NM_001142800.2(EYS):c.6192-1G>A

SNV
Germline

Chr6:64230825

Likely pathogenic

Retinitis pigmentosa 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003460068 RCV003779019

NM_001142800.2(EYS):c.2138-2A>G

SNV
Unknown

Chr6:64997705

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468028

NM_001142800.2(EYS):c.7921A>T (p.Lys2641Ter)

SNV
Unknown

Chr6:63762611

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003460073

NM_001142800.2(EYS):c.1711C>T (p.Gln571Ter)

SNV
Unknown

Chr6:65335035

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003460074

NM_001142800.2(EYS):c.253G>T (p.Gly85Ter)

SNV
Unknown

Chr6:65495158

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003460075

NM_001142800.2(EYS):c.2382-1G>A

SNV
Unknown

Chr6:64912744

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468031

NM_001142800.2(EYS):c.251T>G (p.Leu84Ter)

SNV
Unknown

Chr6:65495160

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468033

NM_001142800.2(EYS):c.6078+1G>A

SNV
Unknown

Chr6:64388689

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003460079

NM_001142800.2(EYS):c.6138G>A (p.Trp2046Ter)

SNV
Unknown

Chr6:64307023

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468034

NM_001142800.2(EYS):c.117T>A (p.Tyr39Ter)

SNV
Unknown

Chr6:65495294

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468037

NM_001142800.2(EYS):c.7017T>A (p.Cys2339Ter)

SNV
Unknown

Chr6:63984421

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468038

NM_001142800.2(EYS):c.988G>T (p.Glu330Ter)

SNV
Unknown

Chr6:65405242

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

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

2 SubmittersRCV003468042 RCV003669429

NM_001142800.2(EYS):c.1123G>T (p.Glu375Ter)

SNV
Unknown

Chr6:65402539

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468044

NM_001142800.2(EYS):c.5071G>T (p.Glu1691Ter)

SNV
Unknown

Chr6:64590796

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468048

NM_001142800.2(EYS):c.110C>A (p.Ser37Ter)

SNV
Unknown

Chr6:65495301

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468051

NM_001142800.2(EYS):c.1460-2A>C

SNV
Unknown

Chr6:65344179

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468053

NM_001142800.2(EYS):c.1122T>A (p.Cys374Ter)

SNV
Unknown

Chr6:65402540

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003468057

NM_001142800.2(EYS):c.3510T>A (p.Cys1170Ter)

SNV
Unknown

Chr6:64626179

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468059

NM_001142800.2(EYS):c.5988C>A (p.Cys1996Ter)

SNV
Unknown

Chr6:64388780

Pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468064

NM_001142800.2(EYS):c.4939G>T (p.Glu1647Ter)

SNV
Unknown

Chr6:64590928

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003468065

NM_001142800.2(EYS):c.6595C>T (p.Gln2199Ter)

SNV
Unknown

Chr6:64066468

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

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

2 SubmittersRCV003460088 RCV003779023

NM_001142800.2(EYS):c.2381+1G>C

SNV
Unknown

Chr6:64945792

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003460089

NM_001142800.2(EYS):c.8697C>A (p.Cys2899Ter)

SNV
Unknown

Chr6:63721334

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

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

2 SubmittersRCV003460092 RCV003565673

NM_001142800.2(EYS):c.6835-2A>T

SNV
Unknown

Chr6:63984605

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003460094

NM_001142800.2(EYS):c.4791T>A (p.Tyr1597Ter)

SNV
Unknown

Chr6:64591076

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003460096

NM_001142800.2(EYS):c.7372C>T (p.Gln2458Ter)

SNV
Unknown

Chr6:63806229

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV003460099

NM_001201543.2(FAM161A):c.1651A>T (p.Arg551Ter)

SNV
Unknown

Chr2:61838638

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

1 SubmittersRCV003460117

NM_001201543.2(FAM161A):c.1044T>A (p.Tyr348Ter)

SNV
Unknown

Chr2:61839960

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

1 SubmittersRCV003460122

NM_001201543.2(FAM161A):c.997C>T (p.Gln333Ter)

SNV
Unknown

Chr2:61840007

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

1 SubmittersRCV003460123

NM_001201543.2(FAM161A):c.2006+1G>A

SNV
Unknown

Chr2:61827103

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

1 SubmittersRCV003468086

NM_001201543.2(FAM161A):c.1015G>T (p.Glu339Ter)

SNV
Unknown

Chr2:61839989

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003460134

NM_201548.5(CERKL):c.385G>T (p.Glu129Ter)

SNV
Unknown

Chr2:181603933

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV003468368

NM_201548.5(CERKL):c.541G>T (p.Glu181Ter)

SNV
Unknown

Chr2:181573825

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV003468369

NM_201548.5(CERKL):c.678-1G>T

SNV
Unknown

Chr2:181558709

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV003475653

NM_201548.5(CERKL):c.613+1G>C

SNV
Unknown

Chr2:181573752

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV003475656

NM_201548.5(CERKL):c.482-1G>A

SNV
Unknown

Chr2:181573885

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV003475657

NM_201548.5(CERKL):c.1366-1G>T

SNV
Unknown

Chr2:181539265

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV003475658

NM_201548.5(CERKL):c.239-2A>C

SNV
Unknown

Chr2:181604081

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV003475659

NM_201548.5(CERKL):c.238+1G>T

SNV
Unknown

Chr2:181656768

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV003475660

NM_201548.5(CERKL):c.304A>T (p.Lys102Ter)

SNV
Unknown

Chr2:181604014

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV003475662

NM_201548.5(CERKL):c.1159+1G>A

SNV
Unknown

Chr2:181547821

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV003475663

NM_201548.5(CERKL):c.1160-2A>G

SNV
Unknown

Chr2:181547728

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV003475664

NM_201548.5(CERKL):c.1365+2T>C

SNV
Unknown

Chr2:181544698

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV003475665

NM_015629.4(PRPF31):c.239-1G>C

SNV
Germline

Chr19:54121859

Likely pathogenic

Retinitis pigmentosa 11

Criteria Provided
Single Submitter

1 SubmittersRCV003448825

NM_001034853.2(RPGR):c.197A>G (p.Gln66Arg)

SNV
Unknown

ChrX:38322903

Likely pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

1 SubmittersRCV003484582

NM_000283.4(PDE6B):c.1070T>A (p.Ile357Asn)

SNV
Unknown

Chr4:656255

Likely pathogenic

Retinitis pigmentosa 40

Criteria Provided
Single Submitter

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

2 SubmittersRCV003495347

NM_206933.4(USH2A):c.7364G>A (p.Trp2455Ter)

SNV
Germline

Chr1:215900842

Pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003554894 RCV004574092

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

2 SubmittersRCV003554896 RCV004574093

NM_001142800.2(EYS):c.1052C>A (p.Ser351Ter)

SNV
Germline

Chr6:65405178

Pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003714243 RCV003985631

NM_205861.3(DHDDS):c.657+1G>A

SNV
Germline

Chr1:26457906

Likely pathogenic

Retinitis pigmentosa 59

Criteria Provided
Single Submitter

1 SubmittersRCV003641756

NM_206933.4(USH2A):c.8681+1G>C

SNV
Germline

Chr1:215877757

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003687446 RCV004573151

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

2 SubmittersRCV003728387 RCV004573263

NM_001142800.2(EYS):c.2410C>T (p.Gln804Ter)

SNV
Germline

Chr6:64912715

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 25

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003720287 RCV004573258

NM_201548.5(CERKL):c.1074-2A>C

SNV
Germline

Chr2:181548606

Likely pathogenic

Retinitis pigmentosa 26
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004573282 RCV003738977

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

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

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

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

1 SubmittersRCV003782148

NM_201253.3(CRB1):c.2129-1G>A

SNV
Germline

Chr1:197427453

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV003797797

NM_201253.3(CRB1):c.535C>T (p.Gln179Ter)

SNV
Germline

Chr1:197328886

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

1 SubmittersRCV003782791

NM_201253.3(CRB1):c.3538G>T (p.Glu1180Ter)

SNV
Germline

Chr1:197435401

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV003782856

NM_000329.3(RPE65):c.725+1G>T

SNV
Germline

Chr1:68439560

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003782954

NM_000329.3(RPE65):c.726-1G>A

SNV
Germline

Chr1:68439324

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

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

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

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

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
Multiple Submitters
No Conflicts

2 SubmittersRCV003780962 RCV004539124

NM_152419.3(HGSNAT):c.1726+1G>A

SNV
Germline

Chr8:43197953

Likely pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

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

1 SubmittersRCV003781154

NM_152419.3(HGSNAT):c.852G>A (p.Trp284Ter)

SNV
Germline

Chr8:43178074

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

1 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

1 SubmittersRCV003779391

NM_000329.3(RPE65):c.12-2A>T

SNV
Germline

Chr1:68448708

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003782613

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

1 SubmittersRCV003787130

NM_201253.3(CRB1):c.1623C>A (p.Tyr541Ter)

SNV
Germline

Chr1:197421451

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004573312 RCV003789290

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

Criteria Provided
Single Submitter

1 SubmittersRCV003792783

NM_201253.3(CRB1):c.2129-2A>G

SNV
Germline

Chr1:197427452

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV003792849

NM_000329.3(RPE65):c.644-1G>A

SNV
Germline

Chr1:68439643

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

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

1 SubmittersRCV003790162

NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)

SNV
Germline

Chr1:68431370

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003790390

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

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

Criteria Provided
Single Submitter

1 SubmittersRCV003786745

NM_201253.3(CRB1):c.1147T>G (p.Cys383Gly)

SNV
Germline

Chr1:197356989

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV003784984

NM_015662.3(IFT172):c.2116-2A>G

SNV
Germline

Chr2:27461838

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003796128

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

SNV
Germline

Chr1:68439190

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

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

1 SubmittersRCV003794253

NM_015662.3(IFT172):c.3562C>T (p.Gln1188Ter)

SNV
Germline

Chr2:27454131

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003794562

NM_001278293.3(ARL6):c.228C>A (p.Tyr76Ter)

SNV
Germline

Chr3:97780657

Pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003806234

NM_201253.3(CRB1):c.2687G>T (p.Cys896Phe)

SNV
Germline

Chr1:197429459

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV003808255

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

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

1 SubmittersRCV003790902

NM_152419.3(HGSNAT):c.610G>T (p.Glu204Ter)

SNV
Germline

Chr8:43169219

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

1 SubmittersRCV003791631

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

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

1 SubmittersRCV003803957

NM_015662.3(IFT172):c.3712-2A>T

SNV
Germline

Chr2:27453741

Likely pathogenic

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

Criteria Provided
Single Submitter

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

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

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

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

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

1 SubmittersRCV003801208

NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)

SNV
Germline

Chr8:43140526

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Retinal dystrophy

Criteria Provided
Conflicting Classifications

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

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

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

1 SubmittersRCV003800197

NM_001278293.3(ARL6):c.188T>A (p.Leu63Ter)

SNV
Germline

Chr3:97780617

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

1 SubmittersRCV003800281

NM_000329.3(RPE65):c.803G>A (p.Trp268Ter)

SNV
Germline

Chr1:68439246

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003804670

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

SNV
Germline

Chr8:43159045

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

1 SubmittersRCV003804690

NM_001278293.3(ARL6):c.252T>G (p.Tyr84Ter)

SNV
Germline

Chr3:97780681

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003817820

NM_152419.3(HGSNAT):c.127A>T (p.Lys43Ter)

SNV
Germline

Chr8:43146956

Pathogenic

Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73

Criteria Provided
Single Submitter

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

1 SubmittersRCV003809826

NM_001278293.3(ARL6):c.66C>A (p.Cys22Ter)

SNV
Germline

Chr3:97768173

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

1 SubmittersRCV003810040

NM_000329.3(RPE65):c.513T>A (p.Tyr171Ter)

SNV
Germline

Chr1:68440983

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

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

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

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

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

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

1 SubmittersRCV003812639

NM_201253.3(CRB1):c.2129-1G>T

SNV
Germline

Chr1:197427453

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV003813016

NM_000329.3(RPE65):c.1299T>A (p.Tyr433Ter)

SNV
Germline

Chr1:68431321

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003807241

NM_000329.3(RPE65):c.859-2A>C

SNV
Germline

Chr1:68439083

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003805052

NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter)

SNV
Germline

Chr1:197421072

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV003810306

NM_152419.3(HGSNAT):c.852-2A>G

SNV
Germline

Chr8:43178072

Pathogenic

Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C

Criteria Provided
Single Submitter

1 SubmittersRCV003810372

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

2 SubmittersRCV003859169 RCV004573368

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

1 SubmittersRCV003881695

NM_000539.3(RHO):c.67C>A (p.Pro23Thr)

SNV
Germline

Chr3:129528800

Likely pathogenic

Retinitis pigmentosa 4

Criteria Provided
Single Submitter

1 SubmittersRCV003883226

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

2 SubmittersRCV003890504 RCV004573414

NM_201253.3(CRB1):c.1421G>A (p.Gly474Asp)

SNV
Germline

Chr1:197421249

Likely pathogenic

Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV003989203

NM_025130.4(HKDC1):c.1250A>G (p.Tyr417Cys)

SNV
Germline

Chr10:69247578

Likely pathogenic

Retinitis pigmentosa 92

Criteria Provided
Single Submitter

1 SubmittersRCV003990493

NM_006343.3(MERTK):c.2227G>A (p.Gly743Ser)

SNV
Germline

Chr2:112021459

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

1 SubmittersRCV003990571

NM_025130.4(HKDC1):c.250G>A (p.Asp84Asn)

SNV
Germline

Chr10:69232787

Likely pathogenic

Retinitis pigmentosa 92

Criteria Provided
Single Submitter

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

1 SubmittersRCV003989435

NM_014714.4(IFT140):c.1963C>T (p.Gln655Ter)

SNV
Germline

Chr16:1564101

Likely pathogenic

Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV003991116

NM_001034853.2(RPGR):c.350G>T (p.Gly117Val)

SNV
Germline

ChrX:38318948

Likely pathogenic

Retinitis pigmentosa 3

Criteria Provided
Single Submitter

1 SubmittersRCV003991187

NM_203288.2(RP9):c.5C>A (p.Ser2Ter)

SNV
Germline

Chr7:33109368

Likely pathogenic

Retinitis pigmentosa 9

Criteria Provided
Single Submitter

1 SubmittersRCV003991368

NM_006017.3(PROM1):c.509+1G>A

SNV
Germline

Chr4:16033303

Likely pathogenic

Retinitis pigmentosa 41

Criteria Provided
Single Submitter

1 SubmittersRCV003991387

NM_006445.4(PRPF8):c.4338+2T>C

SNV
Germline

Chr17:1661269

Likely pathogenic

Retinitis pigmentosa 13

Criteria Provided
Single Submitter

1 SubmittersRCV003993609

NM_001278293.3(ARL6):c.255-2A>T

SNV
Germline

Chr3:97784953

Pathogenic

Retinitis pigmentosa 55

Criteria Provided
Single Submitter

1 SubmittersRCV004006258

NM_201548.5(CERKL):c.1177C>T (p.Gln393Ter)

SNV
Germline

Chr2:181547709

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV004018311

NM_015629.4(PRPF31):c.1A>G (p.Met1Val)

SNV
Germline

Chr19:54118279

Pathogenic

Retinitis pigmentosa 11

Criteria Provided
Single Submitter

1 SubmittersRCV004566468

NM_006445.4(PRPF8):c.4367C>T (p.Thr1456Ile)

SNV
Germline

Chr17:1661134

Likely pathogenic

Retinitis pigmentosa 13

Criteria Provided
Single Submitter

1 SubmittersRCV004554995

NM_014714.4(IFT140):c.2200-1G>C

SNV
Germline

Chr16:1558135

Likely pathogenic

Retinitis pigmentosa 80

Criteria Provided
Single Submitter

1 SubmittersRCV004555307

NM_000440.3(PDE6A):c.1927-1G>C

SNV
Germline

Chr5:149884580

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV004560363

NM_144596.4(TTC8):c.681G>A (p.Trp227Ter)

SNV
Unknown

Chr14:88853027

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV004573795

NM_144596.4(TTC8):c.711-2A>G

SNV
Unknown

Chr14:88857188

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV004573796

NM_144596.4(TTC8):c.555T>G (p.Tyr185Ter)

SNV
Unknown

Chr14:88841490

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV004573797

NM_144596.4(TTC8):c.625-1G>T

SNV
Unknown

Chr14:88852970

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV004573798

NM_144596.4(TTC8):c.739C>T (p.Gln247Ter)

SNV
Unknown

Chr14:88857218

Likely pathogenic

Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV004573799

NM_206933.4(USH2A):c.7187G>A (p.Trp2396Ter)

SNV
Unknown

Chr1:215934729

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573817

NM_206933.4(USH2A):c.5572+1G>C

SNV
Unknown

Chr1:216078088

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573822

NM_206933.4(USH2A):c.5298+2T>C

SNV
Unknown

Chr1:216083454

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573825

NM_206933.4(USH2A):c.11055G>A (p.Trp3685Ter)

SNV
Unknown

Chr1:215759836

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573828

NM_206933.4(USH2A):c.11047+2T>C

SNV
Unknown

Chr1:215766679

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573830

NM_206933.4(USH2A):c.4552A>T (p.Lys1518Ter)

SNV
Unknown

Chr1:216175327

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573833

NM_206933.4(USH2A):c.11865G>A (p.Trp3955Ter)

SNV
Unknown

Chr1:215728231

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573835

NM_206933.4(USH2A):c.14525C>A (p.Ser4842Ter)

SNV
Unknown

Chr1:215648585

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573838

NM_206933.4(USH2A):c.3594C>G (p.Tyr1198Ter)

SNV
Unknown

Chr1:216199844

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573841

NM_206933.4(USH2A):c.2241C>A (p.Cys747Ter)

SNV
Unknown

Chr1:216247153

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573843

NM_206933.4(USH2A):c.10585+2T>A

SNV
Unknown

Chr1:215782736

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573845

NM_206933.4(USH2A):c.5572+1G>T

SNV
Unknown

Chr1:216078088

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573846

NM_206933.4(USH2A):c.11389+1G>C

SNV
Unknown

Chr1:215758594

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573847

NM_206933.4(USH2A):c.9055+1G>T

SNV
Unknown

Chr1:215845823

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573848

NM_206933.4(USH2A):c.2615T>A (p.Leu872Ter)

SNV
Unknown

Chr1:216246779

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573851

NM_206933.4(USH2A):c.7407C>G (p.Tyr2469Ter)

SNV
Unknown

Chr1:215900799

Likely pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573853

NM_206933.4(USH2A):c.14791+2T>C

SNV
Unknown

Chr1:215647520

Pathogenic

Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004573854

NM_201548.5(CERKL):c.613+2T>C

SNV
Unknown

Chr2:181573751

Likely pathogenic

Retinitis pigmentosa 26

Criteria Provided
Single Submitter

1 SubmittersRCV004575616

NM_205861.3(DHDDS):c.324-1G>T

SNV
Unknown

Chr1:26446315

Likely pathogenic

Retinitis pigmentosa 59

Criteria Provided
Single Submitter

1 SubmittersRCV004575802

NM_001142800.2(EYS):c.3737T>G (p.Leu1246Ter)

SNV
Unknown

Chr6:64593257

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV004576463

NM_001142800.2(EYS):c.5835+1G>A

SNV
Unknown

Chr6:64439161

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV004576467

NM_001142800.2(EYS):c.3309C>A (p.Cys1103Ter)

SNV
Unknown

Chr6:64813512

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV004576468

NM_001142800.2(EYS):c.3569-1G>A

SNV
Unknown

Chr6:64617534

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV004576469

NM_001142800.2(EYS):c.5806C>T (p.Gln1936Ter)

SNV
Unknown

Chr6:64439191

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV004576477

NM_001142800.2(EYS):c.1127C>A (p.Ser376Ter)

SNV
Unknown

Chr6:65402535

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV004576479

NM_001142800.2(EYS):c.2326A>T (p.Lys776Ter)

SNV
Unknown

Chr6:64945848

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV004576487

NM_001142800.2(EYS):c.4712C>A (p.Ser1571Ter)

SNV
Unknown

Chr6:64591155

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV004576488

NM_001142800.2(EYS):c.1185-1G>A

SNV
Unknown

Chr6:65384501

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV004576490

NM_001142800.2(EYS):c.8652C>A (p.Cys2884Ter)

SNV
Unknown

Chr6:63721379

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV004576492

NM_001142800.2(EYS):c.3685-1G>T

SNV
Unknown

Chr6:64593310

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV004576493

NM_001142800.2(EYS):c.3244-1G>T

SNV
Unknown

Chr6:64813578

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV004576494

NM_001142800.2(EYS):c.4510C>T (p.Gln1504Ter)

SNV
Unknown

Chr6:64591357

Likely pathogenic

Retinitis pigmentosa 25

Criteria Provided
Single Submitter

1 SubmittersRCV004576495

NM_001201543.2(FAM161A):c.90C>G (p.Tyr30Ter)

SNV
Unknown

Chr2:61853952

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

1 SubmittersRCV004576508

NM_001201543.2(FAM161A):c.1583+2T>A

SNV
Unknown

Chr2:61839419

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

1 SubmittersRCV004576509

NM_001201543.2(FAM161A):c.423-1G>T

SNV
Unknown

Chr2:61840582

Likely pathogenic

Retinitis pigmentosa 28

Criteria Provided
Single Submitter

1 SubmittersRCV004576513