Total 6103 pathogenic variants reported for Retinitis pigmentosa 
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
Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA251355 rs_267606794

10 SubmittersRCV000000052RCV001090971RCV001257835RCV001074032

NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) SNV
Germline
Chr2:61839695 Pathogenic Retinitis pigmentosa 28
Condition: not provided
Cone-rod dystrophy
Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA233978 rs_200691042

22 SubmittersRCV000000053RCV000153226RCV000678572RCV000787604RCV000778621

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

16 SubmittersRCV000000055RCV000787606RCV000790648RCV001003031

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 SubmittersRCV000000056RCV001054497

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 SubmittersRCV000000124RCV001002905

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 SubmittersRCV000000567RCV001387157

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

15 SubmittersRCV000000568RCV000593252RCV001075385RCV001723527RCV003914789

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
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9
Meckel syndrome, type 6
See cases
COACH syndrome 2
Joubert syndrome 9
Meckel syndrome, type 6
Criteria Provided
Multiple Submitters
No Conflicts
CA129544 rs_386833750

7 SubmittersRCV000000783RCV000023922RCV000199602RCV000578695RCV002476904RCV002251848RCV004795365

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 SubmittersRCV000001063RCV001383036

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

10 SubmittersRCV000001064RCV000079374RCV001003071RCV001073803

NM_001031710.3(KLHL7):c.457G>A (p.Ala153Thr) SNV
Germline
Chr7:23140783 Pathogenic Retinitis pigmentosa 42
Retinal dystrophy
Criteria Provided
Single Submitter
CA251666 rs_137853114

2 SubmittersRCV000001065RCV004814788

NM_152419.3(HGSNAT):c.493+1G>A SNV
Germline
Chr8:43159045 Pathogenic Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA114861 rs_193066451

7 SubmittersRCV000001289RCV000763183RCV000780343RCV002512639

NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) SNV
Germline
Chr8:43173740 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA114863 rs_121908282

8 SubmittersRCV000001291RCV000512873RCV000504894RCV000763184RCV003330379

NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) SNV
Germline
Chr8:43193824 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA114867 rs_121908284

4 SubmittersRCV000001293RCV001378638RCV003323346RCV004984634

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 SubmittersRCV000001295RCV000586364RCV001067306

NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) SNV
Germline
Chr8:43182162 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis
Condition: not provided
Retinal dystrophy
Sanfilippo syndrome
Criteria Provided
Conflicting Classifications
CA114871 rs_121908285

13 SubmittersRCV000001296RCV000799182RCV001030801RCV001699017RCV003887846RCV003114169

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 SubmittersRCV000001297RCV001723529RCV001851534

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
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Retinal dystrophy
Retinitis pigmentosa
Meckel syndrome, type 6
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Leber congenital amaurosis
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
CEP290-related disorder
Leber congenital amaurosis 10
Criteria Provided
Multiple Submitters
No Conflicts
CA150917 rs_137852832

31 SubmittersRCV000001396RCV000114202RCV000086298RCV000531295RCV000515339RCV001073790RCV000787813RCV001261607RCV001000092RCV001002714RCV001276487RCV001542773RCV001836689RCV001815157RCV001836688RCV003147273RCV004798711

NM_025114.4(CEP290):c.2991+1655A>G SNV
Germline
Chr12:88101183 Pathogenic/Likely pathogenic Leber congenital amaurosis 10
Condition: not provided
Retinitis pigmentosa
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Retinal dystrophy
Joubert syndrome 5
Joubert syndrome 1
Intellectual disability
Leber congenital amaurosis
CEP290-related disorder
Bardet-Biedl syndrome 14
Criteria Provided
Multiple Submitters
No Conflicts
CA227965 rs_281865192

25 SubmittersRCV000001400RCV000086286RCV000678535RCV000558460RCV000763315RCV001075828RCV001196010RCV000988884RCV001255341RCV001831503RCV001731267RCV003460403

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
Retinal dystrophy
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
CA339895 rs_75895925

9 SubmittersRCV000001462RCV001291573RCV002260581RCV003887848RCV003485517

NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) SNV
Germline
Chr17:6468237 Conflicting classifications of pathogenicity Cone-rod dystrophy 5
not specified
Condition: not provided
Retinitis pigmentosa
PITPNM3-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA234554 rs_76024428

11 SubmittersRCV000002071RCV000153697RCV000512878RCV000787861RCV003934792RCV004814793

NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) SNV
Germline
Chr3:97788004 Pathogenic Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Retinal dystrophy
Bardet-Biedl syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA252067 rs_104893678

4 SubmittersRCV000002120RCV002512667RCV004814794RCV001002871

NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala) SNV
Germline
Chr3:97791797 Pathogenic Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1, modifier of
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Criteria Provided
Single Submitter
CA115313 rs_104893679

2 SubmittersRCV000002121RCV000002122RCV002512668

NM_001278293.3(ARL6):c.92C>T (p.Thr31Met) SNV
Germline
Chr3:97768199 Pathogenic Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA252069 rs_104893680

4 SubmittersRCV000002123RCV001851573RCV001723532RCV003133114

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
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA252073 rs_104893680

3 SubmittersRCV000002125RCV001063683RCV004814795

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 SubmittersRCV000002126RCV001257838

NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) SNV
Germline
Chr14:67726086 Pathogenic Leber congenital amaurosis 13
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA252083 rs_104894474

7 SubmittersRCV000002132RCV000787672RCV001091054RCV004814797

NM_152443.3(RDH12):c.451C>G (p.His151Asp) SNV
Germline
Chr14:67726983 Pathogenic Leber congenital amaurosis 13
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA252087 rs_104894475

7 SubmittersRCV000002135RCV000787674RCV001171675RCV004814798

NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) SNV
Germline
Chr14:67725206 Pathogenic/Likely pathogenic Leber congenital amaurosis 13
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
CA252088 rs_28940315

19 SubmittersRCV000002136RCV000993758RCV001075855RCV000594844RCV001277202

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 SubmittersRCV000002139RCV001003155

NM_152443.3(RDH12):c.377C>T (p.Ala126Val) SNV
Germline
Chr14:67726084 Pathogenic/Likely pathogenic Retinitis pigmentosa 53
Retinal dystrophy
Leber congenital amaurosis 13
Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis
RDH12-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA115315 rs_202126574

10 SubmittersRCV000002142RCV001073666RCV001223788RCV001558134RCV000132691RCV003155010RCV004734494

NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) SNV
Germline
Chr8:10623069 Pathogenic/Likely pathogenic Occult macular dystrophy
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 88
Optic atrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA115397 rs_267607017

15 SubmittersRCV000002277RCV000726920RCV001074376RCV001197672RCV004814802

NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) SNV
Germline
Chr1:216325492 Pathogenic Usher syndrome type 2A
Condition: not provided
Rare genetic deafness
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39
Reviewed By Expert Panel
CA252231 rs_121912599

10 SubmittersRCV000002449RCV000303941RCV000824798RCV001004780RCV001074393RCV003460406

NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) SNV
Germline
Chr1:216247118 Pathogenic Retinitis pigmentosa 39
Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided
USH2A-related disorder
Retinal dystrophy
Usher syndrome
Inborn genetic diseases
Autosomal recessive retinitis pigmentosa
Ear malformation
Retinitis pigmentosa 39
Usher syndrome type 2A
See cases
Reviewed By Expert Panel
CA252233 rs_80338902

46 SubmittersRCV000002450RCV000032523RCV000174625RCV000239000RCV000404009RCV000504814RCV000505146RCV000623925RCV001257905RCV001813938RCV001535506RCV002251859

NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) SNV
Germline
Chr1:215728232 Pathogenic Usher syndrome type 2A
Congenital sensorineural hearing impairment
Condition: not provided
Retinitis pigmentosa
Rare genetic deafness
Usher syndrome
Usher syndrome type 2
USH2A-related disorder
Hearing impairment
Usher syndrome
See cases
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 3A
Criteria Provided
Multiple Submitters
No Conflicts
CA252235 rs_111033364

33 SubmittersRCV000002451RCV000415089RCV000414231RCV000504922RCV000824781RCV001003260RCV001813732RCV000414867RCV003114173RCV004584307RCV000412373RCV001074873RCV002476913RCV003314546

NM_206933.4(USH2A):c.949C>A (p.Arg317=) SNV
Germline
Chr1:216325499 Pathogenic Usher syndrome type 2A
Condition: not provided
Rod-cone dystrophy
Pigmentary retinopathy
Blindness
Abnormal macular morphology
Retinal pigment epithelial atrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Rare genetic deafness
Retinal dystrophy
Usher syndrome type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA252237 rs_111033272

20 SubmittersRCV000002452RCV000412796RCV000627017RCV000763297RCV000984234RCV000824799RCV001075725RCV001199595

NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) SNV
Germline
Chr1:216324240 Pathogenic Usher syndrome type 2A
Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
USH2A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA252239 rs_121912600

23 SubmittersRCV000002453RCV000824795RCV002482817RCV000504809RCV000224697RCV000984315RCV001074823RCV000778222

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 SubmittersRCV000002457RCV000002456RCV000725261RCV000824794RCV001003279

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 SubmittersRCV000002458RCV000032522RCV001379272

NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) SNV
Germline
Chr2:181558617 Pathogenic/Likely pathogenic Retinitis pigmentosa 26
Retinal dystrophy
Retinitis pigmentosa
Retinal pigment epithelial atrophy
Cone dystrophy
Cone-rod dystrophy
Condition: not provided
See cases
CERKL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA252246 rs_121909398

28 SubmittersRCV000002460RCV000504807RCV000504646RCV000626731RCV000678538RCV000725950RCV002251860RCV003407259

NM_144596.4(TTC8):c.489G>A (p.Thr163=) SNV
Germline
Chr14:88841196 Conflicting classifications of pathogenicity Bardet-Biedl syndrome 8
Truncal obesity
Postaxial foot polydactyly
Intellectual disability, moderate
Bardet-Biedl syndrome
Retinitis pigmentosa 51
Retinal dystrophy
TTC8-related disorder
Criteria Provided
Conflicting Classifications
CA339995 rs_119103286

11 SubmittersRCV000002639RCV000415339RCV000203928RCV001197566RCV001074706RCV003415630

NM_144596.4(TTC8):c.115-2A>G SNV
Germline
Chr14:88833691 Likely pathogenic Retinitis pigmentosa 51
Retinal dystrophy
Criteria Provided
Single Submitter
CA339998 rs_587777809

2 SubmittersRCV000002641RCV004794322

NM_004183.4(BEST1):c.140G>A (p.Arg47His) SNV
Germline
Chr11:61951946 Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2
Condition: not provided
Autosomal recessive bestrophinopathy
Vitelliform macular dystrophy 2
Retinitis pigmentosa 50
Autosomal dominant vitreoretinochoroidopathy
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227724 rs_28940278

7 SubmittersRCV000002860RCV000086086RCV004795367RCV004814810

NM_004183.4(BEST1):c.598C>T (p.Arg200Ter) SNV
Germline
Chr11:61956960 Pathogenic Autosomal recessive bestrophinopathy
Condition: not provided
Autosomal recessive bestrophinopathy
Vitelliform macular dystrophy 2
Retinitis pigmentosa 50
Autosomal dominant vitreoretinochoroidopathy
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA115725 rs_121918286

4 SubmittersRCV000002864RCV001202565RCV002490299RCV004814811

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 SubmittersRCV000002870RCV001382239

NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) SNV
Germline
Chr11:61957432 Conflicting classifications of pathogenicity Retinitis pigmentosa 50
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA115732 rs_267606676

7 SubmittersRCV000002871RCV000417725RCV000787545RCV001073474

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 SubmittersRCV000002873RCV000002874RCV000086158

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 SubmittersRCV000002875RCV000726591RCV000787540

NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) SNV
Germline
Chr1:150344216 Pathogenic Retinitis pigmentosa 18
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA252736 rs_121434241

8 SubmittersRCV000003516RCV000726757RCV001003129RCV001074785

NM_004698.4(PRPF3):c.1477C>T (p.Pro493Ser) SNV
Germline
Chr1:150344212 Pathogenic Retinitis pigmentosa 18
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA252737 rs_121434242

4 SubmittersRCV000003517RCV001565464RCV004814816

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 SubmittersRCV000003519RCV001073694RCV001385146

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 SubmittersRCV000003520RCV001073295

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 SubmittersRCV000003521RCV001074988RCV001851617

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 SubmittersRCV000003522RCV001242192

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 SubmittersRCV000003523RCV001268615

NM_022367.4(SEMA4A):c.1049T>G (p.Phe350Cys) SNV
Germline
Chr1:156163009 Pathogenic Retinitis pigmentosa 35
Cone-rod dystrophy 10
No Assertion Criteria Provided
CA116162 rs_267607034

1 SubmittersRCV000003526RCV000003527

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 SubmittersRCV000003724RCV001003056

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 SubmittersRCV000003726RCV001207781RCV003887851

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 SubmittersRCV000003727RCV001053603RCV000787843RCV003887852

NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) SNV
Germline
Chr3:101304277 Conflicting classifications of pathogenicity Vitelliform macular dystrophy 5
Retinitis pigmentosa
Retinitis pigmentosa 56
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA116343 rs_201893545

5 SubmittersRCV000003728RCV001003057RCV004786236RCV001053107RCV004814820

NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) SNV
Germline
Chr1:46192397 Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy
Condition: not provided
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA116547 rs_28940869

11 SubmittersRCV000984302RCV002222337RCV000150001RCV000984210RCV000984301RCV001219572RCV000984303RCV001847573RCV002512738RCV004814821

NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter) SNV
Germline
Chr1:46197018 Pathogenic Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Criteria Provided
Multiple Submitters
No Conflicts
CA116550 rs_193919337

6 SubmittersRCV000240891RCV001390610RCV001529546RCV001847575RCV004566681

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
Condition: not provided
Muscle eye brain disease
Congenital Muscular Dystrophy, alpha-dystroglycan related
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 (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Criteria Provided
Conflicting Classifications
CA116557 rs_74374973

14 SubmittersRCV000004204RCV000081801RCV000710195RCV000671438RCV001097781RCV001082774RCV001449938RCV001579237RCV001579238

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
Condition: not provided
POMGNT1-related disorder
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
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
Criteria Provided
Multiple Submitters
No Conflicts
CA116564 rs_267606960

11 SubmittersRCV000004207RCV000411094RCV001091843RCV004532285RCV002476922RCV003460424RCV000798530RCV002512742

NM_015629.4(PRPF31):c.646G>C (p.Ala216Pro) SNV
Germline
Chr19:54123867 Pathogenic Retinitis pigmentosa 11 No Assertion Criteria Provided
CA253133 rs_119475042

1 SubmittersRCV000004607

NM_015629.4(PRPF31):c.527+3A>G SNV
Germline
Chr19:54123563 Pathogenic/Likely pathogenic Retinitis pigmentosa 11
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA253135 rs_587776590

4 SubmittersRCV000004608RCV001073395RCV001851647

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 SubmittersRCV000004614RCV001092520

NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) SNV
Germline
Chr3:150928107 Pathogenic/Likely pathogenic Usher syndrome type 3
Hearing impairment
Retinitis pigmentosa
Retinitis pigmentosa 61
Retinitis pigmentosa
Usher syndrome type 3A
Retinitis pigmentosa 61
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA000001 rs_121908140

14 SubmittersRCV000004642RCV001375084RCV002247246RCV002496258RCV003466811RCV000724158

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 SubmittersRCV000004646RCV003466813

NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) SNV
Germline
Chr3:150972520 Pathogenic Usher syndrome type 3
Retinitis pigmentosa
Rare genetic deafness
Usher syndrome type 3A
Condition: not provided
CLRN1-related disorder
Retinitis pigmentosa 61
Criteria Provided
Multiple Submitters
No Conflicts
CA116834 rs_111033267

11 SubmittersRCV000004647RCV000505037RCV000844690RCV001376502RCV001384937RCV003407275RCV003466814

NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) SNV
Germline
Chr3:150972591 Pathogenic/Likely pathogenic Usher syndrome type 3
Condition: not provided
Retinal dystrophy
Usher syndrome type 3A
Usher syndrome
Retinitis pigmentosa 61
CLRN1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA116839 rs_121908143

13 SubmittersRCV000004649RCV000414238RCV001075346RCV001273484RCV002468960RCV003466815RCV004754242

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
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA116915 rs_137852959

19 SubmittersRCV000004807RCV000132732RCV000190815RCV000224470RCV001588799RCV002496261RCV004766980

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 74
Bardet-Biedl syndrome 2
Retinitis pigmentosa
Retinal dystrophy
BBS2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA116926 rs_121908175

11 SubmittersRCV000004832RCV000412476RCV000589350RCV000762970RCV000787792RCV001074960RCV004732529

NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) SNV
Germline
Chr16:56514623 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA253235 rs_121908176

9 SubmittersRCV000004833RCV000587533RCV002490314RCV003441704

NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) SNV
Germline
Chr16:56502790 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2
Retinal dystrophy
Retinitis pigmentosa 74
Bardet-Biedl syndrome
BBS2-related disorder
Condition: not provided
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Criteria Provided
Multiple Submitters
No Conflicts
CA253237 rs_121908177

16 SubmittersRCV000004834RCV001074104RCV002466394RCV000269226RCV004528072RCV000493074RCV000762967

NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) SNV
Germline
Chr16:56502454 Pathogenic Bardet-biedl syndrome 2/4, digenic
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Autosomal recessive retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA116928 rs_121908178

7 SubmittersRCV000004835RCV000675099RCV001226053RCV001257834RCV003887853

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
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa
Condition: not provided
BBS2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA116932 rs_121908179

11 SubmittersRCV000004839RCV000190985RCV000587645RCV000762969RCV000665304RCV001002876RCV001582466RCV004532290

NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) SNV
Germline
Chr16:56496982 Pathogenic Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
BBS2-related disorder
Bardet-Biedl syndrome
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA060272 rs_138043021

17 SubmittersRCV000004840RCV000190986RCV000380902RCV000589221RCV001002874RCV001073916RCV001268711RCV002490315RCV002512776

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 SubmittersRCV000005732RCV001071534RCV001073657

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
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA253474 rs_119489105

5 SubmittersRCV000005733RCV001054980RCV001257901RCV001723542RCV004814840

NM_006343.3(MERTK):c.2189+1G>T SNV
Germline
Chr2:112019523 Pathogenic Retinitis pigmentosa 38
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA253476 rs_371956016

10 SubmittersRCV000005734RCV001073654RCV001257903RCV001208965RCV000624145RCV003324483

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
NR2E3-related disorder
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA117571 rs_104894492

8 SubmittersRCV000005866RCV001048873RCV003323352RCV004732530RCV003887854

NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) SNV
Germline
Chr15:71811591 Pathogenic/Likely pathogenic Enhanced S-cone syndrome
NR2E3-related disorder
Retinitis pigmentosa 37
Enhanced S-cone syndrome
Condition: not provided
Goldmann-Favre syndrome
Retinitis pigmentosa 37
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA117573 rs_104894493

19 SubmittersRCV000005867RCV000261496RCV000668029RCV001045323RCV001449793RCV004786237RCV001075864

NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) SNV
Germline
Chr15:71813573 Pathogenic/Likely pathogenic Enhanced S-cone syndrome
Goldmann-Favre syndrome
NR2E3-related disorder
Retinitis pigmentosa 37
Enhanced S-cone syndrome
NR2E3-related disorder
Enhanced S-cone syndrome
Retinitis pigmentosa 37
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA117575 rs_28937873

24 SubmittersRCV000005869RCV000005870RCV000393548RCV000668086RCV001095701RCV001374877RCV000171240RCV001074891RCV000787633RCV001257807

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

12 SubmittersRCV000005871RCV000286602RCV000787628RCV001075751

NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) SNV
Germline
Chr17:6425781 Pathogenic Leber congenital amaurosis 4
Condition: not provided
AIPL1-related disorder
Leber congenital amaurosis
Retinal dystrophy
Leber congenital amaurosis 4
Retinitis pigmentosa
AIPL1-related retinopathy
Criteria Provided
Multiple Submitters
No Conflicts
CA227899 rs_62637014

28 SubmittersRCV000005906RCV000086235RCV000365317RCV000505017RCV001074840RCV002496274RCV004786238

NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) SNV
Germline
Chr4:15994028 Pathogenic Retinitis pigmentosa 41
Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Single Submitter
CA253536 rs_137853005

4 SubmittersRCV000005959RCV000210292RCV000504792

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
Macular dystrophy
Stargardt disease
Retinitis pigmentosa
Retinitis pigmentosa 41
Cone-rod dystrophy 12
Stargardt disease 4
Retinal macular dystrophy type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA117645 rs_137853006

18 SubmittersRCV000005960RCV000005961RCV000005962RCV000479499RCV000504765RCV000787649RCV000787648RCV001723543RCV002496275

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
CRB1-related disorder
Pigmented paravenous retinochoroidal atrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA228031 rs_62635656

10 SubmittersRCV000006084RCV000086336RCV001045972RCV001250615RCV001075294RCV004528086RCV003450614

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 SubmittersRCV000006085RCV000086334

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
CRB1-related maculopathy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa-deafness syndrome
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA228006 rs_62635654

24 SubmittersRCV000006086RCV000086317RCV000656137RCV000787577RCV001074882RCV001052374RCV001250604RCV001352991RCV002496279RCV003447471RCV003450615RCV004540990

NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) SNV
Germline
Chr1:197427559 Pathogenic/Likely pathogenic Retinitis pigmentosa 12
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa
Leber congenital amaurosis 8
Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA228003 rs_28939720

24 SubmittersRCV000006087RCV000086315RCV000809110RCV000787576RCV001250601RCV001257864RCV001826422RCV002496280RCV001074789RCV001196030

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 SubmittersRCV000006088RCV000086340RCV002490326

NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) SNV
Germline
Chr1:197427726 Pathogenic Retinitis pigmentosa 12
Retinal dystrophy
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder
Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
CA203531 rs_137853137

16 SubmittersRCV000006090RCV000787826RCV001275651RCV002504753RCV003450616RCV004739293RCV000578757RCV000787578RCV000691427RCV001250606

NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg) SNV
Germline
Chr1:197435404 Likely pathogenic Retinitis pigmentosa 12
Condition: not provided
Retinal dystrophy
Criteria Provided
Single Submitter
CA228041 rs_62636291

3 SubmittersRCV000006091RCV000086346RCV004814842

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 SubmittersRCV000006092RCV000082821RCV000353078RCV000262530RCV000723716RCV001080229

NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) SNV
Germline
Chr1:197435170 Pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Early-onset retinal dystrophy
Leber congenital amaurosis
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA117711 rs_62636275

14 SubmittersRCV000006093RCV000006094RCV000086341RCV000648818RCV000786009RCV001002998RCV001073404RCV003450617

NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) SNV
Germline
Chr8:54625911 Pathogenic Retinitis pigmentosa 1
Condition: not provided
Retinal dystrophy
RP1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA253665 rs_104894082

14 SubmittersRCV000006329RCV000255140RCV001074787RCV004754249

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 SubmittersRCV000006332RCV001851696

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 SubmittersRCV000007782RCV000086066

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 SubmittersRCV000007784RCV002512878

NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) SNV
Germline
Chr6:35503816 Pathogenic Retinitis pigmentosa 14
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA254156 rs_121909076

4 SubmittersRCV000007787RCV000132649RCV002512879RCV003887856

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 SubmittersRCV000007788RCV001386009

NM_003322.6(TULP1):c.718+2T>C SNV
Germline
Chr6:35509632 Pathogenic Retinitis pigmentosa 14
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1581742970

3 SubmittersRCV000007790RCV003555962RCV004814855

NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) SNV
Germline
Chr6:42185686 Conflicting classifications of pathogenicity Retinitis pigmentosa 48
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA232839 rs_121909124

6 SubmittersRCV000007794RCV000132648RCV000343566RCV003887857

NM_000554.6(CRX):c.121C>T (p.Arg41Trp) SNV
Germline
Chr19:47836263 Pathogenic/Likely pathogenic Cone-rod dystrophy 2
Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Cone-rod dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA118790 rs_104894672

12 SubmittersRCV000007843RCV000085989RCV001073396RCV001386169RCV003324484RCV003324485

NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) SNV
Germline
Chr10:13283695 Pathogenic/Likely pathogenic REFSUM DISEASE, ADULT, 1
Condition: not provided
Retinitis pigmentosa
Phytanic acid storage disease
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA118904 rs_104894178

14 SubmittersRCV000008018RCV000255609RCV000505105RCV000665657RCV002426496

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
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA212871 rs_201578674

12 SubmittersRCV000008019RCV000599568RCV000660487RCV001723551RCV003407301RCV004814858

NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) SNV
Germline
Chr1:94051698 Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Condition: not provided
Peripheral neuropathy
Abnormal macular morphology
Retinal dystrophy
Inborn genetic diseases
Cone-rod dystrophy
Retinitis pigmentosa
Stargardt disease
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age-related macular degeneration
Retinitis pigmentosa 19
ABCA4-related disorder
Stargardt disease 3
Criteria Provided
Conflicting Classifications
CA119128 rs_76157638

33 SubmittersRCV000008328RCV000008329RCV000085494RCV000415097RCV000505063RCV000623365RCV000787768RCV000787487RCV000787486RCV001198385RCV001535670RCV003224856RCV004532312RCV004558239

NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) SNV
Germline
Chr1:94047046 Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease
Retinal dystrophy
Retinitis pigmentosa 19
not specified
ABCA4-related disorder
Criteria Provided
Conflicting Classifications
CA227031 rs_58331765

12 SubmittersRCV000008330RCV000085506RCV001002838RCV001073603RCV001807722RCV002247267RCV004732538

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
Stargardt disease
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Age related macular degeneration 2
Criteria Provided
Multiple Submitters
No Conflicts
CA119129 rs_61751408

17 SubmittersRCV000008332RCV000008333RCV000085785RCV000826132RCV000763438RCV001074885RCV002247268

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
not specified
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
Stargardt Disease, Recessive
Cone dystrophy
ABCA4-related disorder
Retinitis pigmentosa
Retinal dystrophy
Stargardt disease
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Criteria Provided
Conflicting Classifications
CA220688 rs_41292677

20 SubmittersRCV000008335RCV000078671RCV000259072RCV000285333RCV000393715RCV000393726RCV000340261RCV000504806RCV000778139RCV000787769RCV001075661RCV002470704RCV004783720

NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys) SNV
Germline
Chr1:94043420 Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227082 rs_61750061

5 SubmittersRCV000008337RCV000085548RCV003398468RCV004795382

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
Retinal dystrophy
Age related macular degeneration 2
Inborn genetic diseases
Stargardt disease
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinitis pigmentosa 19
not specified
Retinitis pigmentosa
ABCA4-related retinopathy
See cases
Criteria Provided
Multiple Submitters
No Conflicts
CA119132 rs_1800553

50 SubmittersRCV000008339RCV000008340RCV000008341RCV000078670RCV000273328RCV000504952RCV000505149RCV000678513RCV000624210RCV000787514RCV001254602RCV001542557RCV001731281RCV002247269RCV003324710RCV004584319

NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) SNV
Germline
Chr1:94043413 Pathogenic/Likely pathogenic Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Macular dystrophy
Stargardt disease
Retinitis pigmentosa
not specified
Age related macular degeneration 2
Optic atrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA119135 rs_61751374

30 SubmittersRCV000008350RCV000008348RCV000085549RCV000505109RCV000778259RCV000763046RCV000787495RCV000787493RCV000787494RCV001000014RCV001196125RCV004814860

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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinal dystrophy
Stargardt disease 3
Criteria Provided
Multiple Submitters
No Conflicts
CA203216 rs_61750200

20 SubmittersRCV000008355RCV000085812RCV000179293RCV000763050RCV000787521RCV001074780RCV004558240

NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) SNV
Germline
Chr1:94063250 Pathogenic/Likely pathogenic Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Macular dystrophy
Stargardt disease
not specified
Age related macular degeneration 2
ABCA4-related disorder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA226911 rs_61751392

25 SubmittersRCV000504750RCV000408513RCV000505133RCV000787482RCV000787481RCV001002385RCV001196126RCV004528784RCV000085410

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
ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Stargardt disease
Retinal dystrophy
Cone-rod dystrophy 3
Criteria Provided
Multiple Submitters
No Conflicts
CA129033 rs_61750130

23 SubmittersRCV000008362RCV000023139RCV000078666RCV000454310RCV000778258RCV000763044RCV000787498RCV001075868RCV004786246

NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) SNV
Germline
Chr1:94005500 Pathogenic/Likely pathogenic Retinal dystrophy, early-onset severe
Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinitis pigmentosa 19
ABCA4-related retinopathy
Leber congenital amaurosis 14
ABCA4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA119140 rs_61751383

20 SubmittersRCV000008365RCV000085786RCV000504794RCV000505162RCV000763437RCV000787773RCV001542555RCV002512903RCV003447472RCV004528093

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
Stargardt Disease, Recessive
Macular degeneration
Stargardt disease
ABCA4-related disorder
Retinal dystrophy
Stargardt disease 3
Criteria Provided
Conflicting Classifications
CA119146 rs_1801581

17 SubmittersRCV000008374RCV000008375RCV000085512RCV000152706RCV000349295RCV000392936RCV000399411RCV000294335RCV001002837RCV001101950RCV003887858RCV004558243

NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) SNV
Germline
Chr2:96287968 Conflicting classifications of pathogenicity Retinitis pigmentosa 33
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA254265 rs_267607077

9 SubmittersRCV000008390RCV000505052RCV001091895RCV001075824

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 SubmittersRCV000009451RCV000188709RCV001723555RCV002426497RCV003407309

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 SubmittersRCV000009708RCV000055795

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
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA241383 rs_104894187

7 SubmittersRCV000009759RCV000175649RCV000626831RCV004814868

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
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Retinitis pigmentosa
Visual impairment
Macular dystrophy
Cone-rod dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA226086 rs_61750173

20 SubmittersRCV000009951RCV000084863RCV000504851RCV000787614RCV001003043RCV001228516RCV001723556RCV001271114RCV003324497

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 SubmittersRCV000010170RCV000010171RCV003162227

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 SubmittersRCV000010575RCV000085105

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 SubmittersRCV000010576RCV000085116

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 SubmittersRCV000010577RCV000085125RCV001003203RCV002512961

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
RPGR-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA226376 rs_62638634

7 SubmittersRCV000010580RCV000085072RCV000822760RCV001074755RCV004755727

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 SubmittersRCV000010584RCV000085096

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 SubmittersRCV000010586RCV003534308RCV002464059

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 SubmittersRCV000010590RCV001698940

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 SubmittersRCV003128227RCV003151715

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 SubmittersRCV000011291RCV000657655

NM_006915.3(RP2):c.353G>A (p.Arg118His) SNV
Germline
ChrX:46853726 Pathogenic/Likely pathogenic Retinitis pigmentosa 2
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA255301 rs_28933687

6 SubmittersRCV000011292RCV001075110RCV001215347

NM_006915.3(RP2):c.453C>G (p.Tyr151Ter) SNV
Germline
ChrX:46853826 Pathogenic Retinitis pigmentosa 2 No Assertion Criteria Provided
CA255302 rs_104894926

1 SubmittersRCV000011293

NM_006915.3(RP2):c.353G>T (p.Arg118Leu) SNV
Germline
ChrX:46853726 Pathogenic Retinitis pigmentosa 2 No Assertion Criteria Provided
CA255304 rs_28933687

1 SubmittersRCV000011295

NM_006915.3(RP2):c.358C>T (p.Arg120Ter) SNV
Germline
ChrX:46853731 Pathogenic Retinitis pigmentosa 2
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA255305 rs_104894927

11 SubmittersRCV000011297RCV000504994RCV001047806RCV000787701

NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) SNV
Germline
Chr11:77142783 Pathogenic Usher syndrome type 1B
Rare genetic deafness
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Retinitis pigmentosa
Condition: not provided
Hearing loss, autosomal recessive
Criteria Provided
Multiple Submitters
No Conflicts
CA277965 rs_35689081

8 SubmittersRCV000012634RCV000154341RCV000665804RCV000787856RCV001226256RCV001291462

NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) SNV
Germline
Chr11:66526181 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1
Condition: not provided
Bardet-Biedl syndrome
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome
See cases
Inborn genetic diseases
BBS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA223760 rs_113624356

51 SubmittersRCV000012926RCV000082202RCV000174408RCV000210319RCV000504693RCV000787785RCV002251900RCV002513000RCV003390672

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 SubmittersRCV000012927RCV000169202RCV001008645RCV001723562RCV002513001RCV003934827

NM_000539.3(RHO):c.68C>A (p.Pro23His) SNV
Germline
Chr3:129528801 Pathogenic Retinitis pigmentosa 4
Condition: not provided
Pigmentary retinal dystrophy
Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1
Retinal dystrophy
RHO-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA256661 rs_104893768

8 SubmittersRCV000013887RCV000490234RCV000763095RCV001075876RCV004755731

NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) SNV
Germline
Chr3:129533711 Pathogenic/Likely pathogenic Retinitis pigmentosa 4
Condition: not provided
Retinitis pigmentosa
Peripheral visual field loss
Blurred vision
Night blindness
Retinal dystrophy
Microcephaly 17, primary, autosomal recessive
RHO-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA256662 rs_29001566

17 SubmittersRCV000013888RCV000490027RCV000504743RCV000626702RCV001075874RCV003989284RCV004755732

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 SubmittersRCV000013889RCV003887861

NM_000539.3(RHO):c.173C>G (p.Thr58Arg) SNV
Germline
Chr3:129528906 Pathogenic/Likely pathogenic Retinitis pigmentosa 4
Retinal dystrophy
Condition: not provided
RHO-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA256664 rs_28933394

10 SubmittersRCV000013890RCV001074373RCV001384460RCV004755733

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

10 SubmittersRCV000013892RCV000787682RCV001075619RCV001002098RCV001090660

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 SubmittersRCV000013894RCV001198366

NM_000539.3(RHO):c.266G>A (p.Gly89Asp) SNV
Germline
Chr3:129528999 Pathogenic Retinitis pigmentosa 4
Condition: not provided
Pigmentary retinal dystrophy
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA256668 rs_104893772

7 SubmittersRCV000013895RCV001213959RCV001813740RCV001003167RCV004814892

NM_000539.3(RHO):c.316G>T (p.Gly106Trp) SNV
Germline
Chr3:129529049 Pathogenic/Likely pathogenic Retinitis pigmentosa 4
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA256669 rs_104893773

3 SubmittersRCV000013896RCV001073422RCV001857345

NM_000539.3(RHO):c.568G>A (p.Asp190Asn) SNV
Germline
Chr3:129532288 Pathogenic/Likely pathogenic Retinitis pigmentosa 4
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA256670 rs_104893779

8 SubmittersRCV000013897RCV001056948RCV003887862

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 SubmittersRCV000013898RCV000256085

NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) SNV
Germline
Chr3:129532253 Pathogenic/Likely pathogenic Retinitis pigmentosa 4
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA256672 rs_104893776

7 SubmittersRCV000013899RCV001229671RCV000787683RCV004814893

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 SubmittersRCV000013900RCV001386998RCV003887863

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 SubmittersRCV000013901RCV001074697

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
RHO-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA122819 rs_104893775

13 SubmittersRCV000013902RCV000013903RCV000132597RCV000413771RCV001074272RCV004755734

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

6 SubmittersRCV000013904RCV000760321RCV003887864

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 SubmittersRCV000013905RCV002513028

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 SubmittersRCV000013907RCV001003173RCV001382064

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 SubmittersRCV000013908RCV001074816RCV001857346

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 SubmittersRCV000013909RCV001003172RCV001582479

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 SubmittersRCV000013910RCV001234924RCV001073635

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 SubmittersRCV000013911RCV001007976RCV001074645

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 SubmittersRCV000013912RCV000504903RCV002513029

NM_000539.3(RHO):c.316G>A (p.Gly106Arg) SNV
Germline
Chr3:129529049 Pathogenic/Likely pathogenic Retinitis pigmentosa 4
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA256683 rs_104893773

10 SubmittersRCV000013913RCV000787679RCV001074389RCV001207877

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 SubmittersRCV000013915RCV000504953RCV001386997

NM_000539.3(RHO):c.44A>G (p.Asn15Ser) SNV
Germline
Chr3:129528777 Pathogenic/Likely pathogenic Retinitis pigmentosa 4
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA256685 rs_104893786

8 SubmittersRCV000013917RCV000132598RCV001203907RCV004814894

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 SubmittersRCV000013918RCV001075474RCV004546412

NM_000539.3(RHO):c.448G>A (p.Glu150Lys) SNV
Germline
Chr3:129530962 Pathogenic/Likely pathogenic Retinitis pigmentosa 4, autosomal recessive
Condition: not provided
Retinitis pigmentosa 4
Autosomal recessive retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA122824 rs_104893791

7 SubmittersRCV000013921RCV001045970RCV001265186RCV003105773RCV004794339

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 SubmittersRCV000013922RCV001237838RCV003390680

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 SubmittersRCV000013923RCV001851839

NM_000539.3(RHO):c.491C>A (p.Ala164Glu) SNV
Germline
Chr3:129531005 Pathogenic Retinitis pigmentosa 4
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA256689 rs_104893793

3 SubmittersRCV000013924RCV001381859RCV004814896

NM_000539.3(RHO):c.511C>T (p.Pro171Ser) SNV
Germline
Chr3:129531025 Pathogenic Retinitis pigmentosa 4
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA256690 rs_104893794

5 SubmittersRCV000013925RCV001075386RCV001381861RCV001003169

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 SubmittersRCV000013927RCV001213632

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 SubmittersRCV000013928RCV001851840

NM_000539.3(RHO):c.67C>G (p.Pro23Ala) SNV
Germline
Chr3:129528800 Pathogenic Retinitis pigmentosa 4 No Assertion Criteria Provided
CA256695 rs_104893797

1 SubmittersRCV000013930

NM_000539.3(RHO):c.1033G>A (p.Val345Met) SNV
Germline
Chr3:129533704 Pathogenic/Likely pathogenic Retinitis pigmentosa 4
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA256697 rs_104893795

4 SubmittersRCV000013931RCV001045798RCV004814897

NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln) SNV
Germline
Chr15:89215133 Pathogenic/Likely pathogenic Pigmentary retinal dystrophy
Retinitis punctata albescens
Retinitis pigmentosa
Condition: not provided
Autosomal recessive retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA122838 rs_137853290

5 SubmittersRCV000013973RCV000013974RCV001731283RCV001857347RCV001257814

NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) SNV
Germline
Chr15:89210794 Pathogenic/Likely pathogenic Bothnia retinal dystrophy
Retinitis punctata albescens
RLBP1-related disorder
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA122839 rs_28933990

7 SubmittersRCV000013978RCV000013979RCV000345884RCV001003174RCV001387783RCV003887865

NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) SNV
Germline
Chr15:89211750 Pathogenic Retinitis punctata albescens
Retinitis pigmentosa
RLBP1-related disorder
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA122840 rs_137853291

7 SubmittersRCV000013980RCV000504975RCV000394737RCV001073560RCV001387784

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 SubmittersRCV000013981RCV001003119

NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) SNV
Germline
Chr4:654119 Pathogenic Retinitis pigmentosa 40
Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA256715 rs_121918579

12 SubmittersRCV000013982RCV001074585RCV000504946RCV000627220

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 SubmittersRCV000013983RCV001546523

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 SubmittersRCV000013985RCV000132576RCV001851841RCV003887867

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 SubmittersRCV000013988RCV001257886

NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter) SNV
Germline
Chr5:149886354 Pathogenic Retinitis pigmentosa 43
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA256725 rs_121918576

5 SubmittersRCV000013989RCV001851842RCV000987614

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
Retinitis pigmentosa 20
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy
Retinal dystrophy
Reviewed By Expert Panel
CA226577 rs_61752895

9 SubmittersRCV000013993RCV000085219RCV001376448RCV001236263RCV001831567RCV003460467RCV004794340

NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) SNV
Germline
Chr1:68444858 Pathogenic Retinitis pigmentosa 20
Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis
RPE65-related disorder
Leber congenital amaurosis 2
Autosomal recessive retinitis pigmentosa
Abnormality of the eye
Retinal dystrophy
Leber congenital amaurosis
RPE65-related recessive retinopathy
Reviewed By Expert Panel
CA226531 rs_61752871

20 SubmittersRCV000013994RCV000085184RCV000527143RCV000787698RCV001095690RCV001250682RCV001257818RCV001813981RCV001073556RCV001275337RCV004595852

NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) SNV
Germline
Chr1:68431160 Likely pathogenic Retinitis pigmentosa 20
Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
not specified
RPE65-related recessive retinopathy
Reviewed By Expert Panel
CA226509 rs_62637004

6 SubmittersRCV000013995RCV000085169RCV001304649RCV003114190RCV004801914

NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) SNV
Germline
Chr1:68438228 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy
Reviewed By Expert Panel
CA256730 rs_121917744

8 SubmittersRCV000013996RCV001250693RCV000815732RCV001826460RCV003460468

NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) SNV
Germline
Chr1:68438293 Pathogenic Retinitis pigmentosa 20
Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinal dystrophy
RPE65-related recessive retinopathy
Reviewed By Expert Panel
CA226472 rs_61752909

15 SubmittersRCV000013997RCV000085141RCV000986328RCV001047062RCV001831568RCV002496352RCV004814898RCV003764564

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
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy
RPE65-related recessive retinopathy
Reviewed By Expert Panel
CA226519 rs_121917745

11 SubmittersRCV000013999RCV000014000RCV000085176RCV000132583RCV000816506RCV001826461RCV003887868RCV003764565

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
Patterned dystrophy of the retinal pigment epithelium
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA226285 rs_61755806

10 SubmittersRCV000014050RCV000085007RCV001063368RCV001003142RCV001250376RCV001075781

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 SubmittersRCV000014051RCV000084987RCV000149464RCV000149466RCV001075516RCV001250378RCV001378481RCV001530305

NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) SNV
Germline
Chr6:42721820 Pathogenic/Likely pathogenic Choroidal dystrophy, central areolar 2
Retinitis pigmentosa
PRPH2-related disorder
Vitelliform macular dystrophy 3
Condition: not provided
Macular dystrophy
Patterned dystrophy of the retinal pigment epithelium
Stargardt disease
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA122930 rs_61755793

13 SubmittersRCV000014053RCV000787663RCV001054658RCV001799605RCV000084982RCV000787664RCV001250353RCV001250367RCV001074392

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
Retinitis pigmentosa
Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 2
Retinitis pigmentosa 7
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA122936 rs_61755792

15 SubmittersRCV000014056RCV000084981RCV001003147RCV001049315RCV001250350RCV001250352RCV001352972RCV001250348RCV001250349RCV001250351RCV002466402RCV003887869

NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys) SNV
Germline
Chr6:42704461 Pathogenic Retinitis pigmentosa 7
Retinal dystrophy
Condition: not provided
Criteria Provided
Single Submitter
CA226304 rs_61755816

4 SubmittersRCV000014058RCV003887870RCV000085017

NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) SNV
Germline
Chr6:42722199 Pathogenic/Likely pathogenic Retinitis pigmentosa 7
Condition: not provided
Patterned dystrophy of the retinal pigment epithelium
PRPH2-related disorder
Retinal dystrophy
Stargardt disease
Patterned macular dystrophy 1
Choroidal dystrophy, central areolar 2
Criteria Provided
Multiple Submitters
No Conflicts
CA226209 rs_61755771

14 SubmittersRCV000014067RCV000084955RCV001250291RCV001039794RCV001075450RCV001250276RCV000987699RCV003987319

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 SubmittersRCV000014069RCV000084983

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
Retinal dystrophy
PRPH2-related disorder
Stargardt disease
Retinitis pigmentosa
Patterned dystrophy of the retinal pigment epithelium
Patterned macular dystrophy 1
Criteria Provided
Multiple Submitters
No Conflicts
CA122946 rs_61755783

18 SubmittersRCV000014071RCV000084971RCV000678606RCV000787661RCV001003149RCV001075677RCV001061048RCV001250318RCV001250320RCV001250319RCV001353001

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 SubmittersRCV000015959RCV000255540RCV003887871

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 SubmittersRCV000015961RCV003887872

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
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
CNGA1-related disorder
See cases
Retinitis pigmentosa 49
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA126990 rs_62625014

20 SubmittersRCV000018440RCV000787817RCV000787818RCV001059719RCV000778730RCV001073687RCV004757110RCV001197999RCV002504802

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 SubmittersRCV000018444RCV003315504

NM_000717.5(CA4):c.40C>T (p.Arg14Trp) SNV
Germline
Chr17:60150074 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 17
CA4-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA258044 rs_104894559

4 SubmittersRCV000336591RCV000019173RCV003914854RCV001247433

NM_000717.5(CA4):c.206G>A (p.Arg69His) SNV
Germline
Chr17:60156653 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 17
Criteria Provided
Conflicting Classifications
CA258046 rs_121434552

3 SubmittersRCV002513116RCV003887874RCV000019175

NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp) SNV
Germline
Chr1:212858813 Pathogenic Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA115240 rs_267606820

3 SubmittersRCV000001933RCV001046647

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 SubmittersRCV000001934RCV001851962

NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) SNV
Germline
Chr1:212859026 Pathogenic/Likely pathogenic Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA115242 rs_267606821

7 SubmittersRCV000001935RCV002513132RCV002513131

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 Likely pathogenic Retinitis pigmentosa 62
Retinal dystrophy
Criteria Provided
Single Submitter
CA259647 rs_387906646

2 SubmittersRCV000022649RCV004814914

NM_001242957.3(MAK):c.37G>A (p.Gly13Ser) SNV
Germline
Chr6:10830612 Conflicting classifications of pathogenicity Retinitis pigmentosa 62
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA259649 rs_387906647

3 SubmittersRCV000022650RCV001851998RCV004814915

NM_001242957.3(MAK):c.497G>A (p.Arg166His) SNV
Germline
Chr6:10803886 Pathogenic Retinitis pigmentosa 62
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA259651 rs_387906648

4 SubmittersRCV000022651RCV001388421RCV001003075

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
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy
Retinal dystrophy
Reviewed By Expert Panel
CA226484 rs_62653011

15 SubmittersRCV000022749RCV000022750RCV000085150RCV000348257RCV000787920RCV001054423RCV001275328RCV003764626RCV004814916

NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) SNV
Germline
Chr1:68439033 Pathogenic Leber congenital amaurosis 2
Condition: not provided
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
CA226589 rs_61752904

7 SubmittersRCV000022753RCV000085231RCV002490403RCV002513174RCV003764627

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
RPE65-related recessive retinopathy
Leber congenital amaurosis
RPE65-related disorder
Reviewed By Expert Panel
CA226500 rs_62636300

8 SubmittersRCV000022754RCV000085161RCV001054426RCV003764628RCV003317042RCV004732553

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 SubmittersRCV000022755RCV000797198RCV001074616

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 SubmittersRCV000022756RCV001381858

NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) SNV
Germline
Chr1:94041367 Pathogenic Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA227113 rs_61751399

7 SubmittersRCV000085574RCV001073572RCV000023141RCV000504768

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 SubmittersRCV000023538RCV001073290RCV001384938

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 SubmittersRCV000023644RCV002513199

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

18 SubmittersRCV000023687RCV000762902RCV000778978RCV001354833

NM_206933.4(USH2A):c.7595-2144A>G SNV
Germline
Chr1:215891198 Pathogenic/Likely pathogenic Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2
Retinitis pigmentosa 39
Retinal dystrophy
USH2A-related disorder
Rare genetic deafness
Criteria Provided
Multiple Submitters
No Conflicts
CA259896 rs_786200928

24 SubmittersRCV000023700RCV000505092RCV000787740RCV000814767RCV000664608RCV001003267RCV001376510RCV001074209RCV001824575RCV004017262

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
Retinal dystrophy
Retinitis pigmentosa 94, variable age at onset
SPATA7-related disorder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA259907 rs_140287375

10 SubmittersRCV000023791RCV001075501RCV002260600RCV000778417RCV002251427

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 SubmittersRCV000023817RCV000153361RCV000652843RCV001074236RCV001192638

NM_177965.4(CFAP418):c.497T>A (p.Leu166Ter) SNV
Germline
Chr8:95247744 Pathogenic Retinitis pigmentosa 64 No Assertion Criteria Provided
CA371838342 rs_1064792852

1 SubmittersRCV000024191

NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp) SNV
Germline
Chr8:95247712 Pathogenic/Likely pathogenic Cone-rod dystrophy 16
Bardet-biedl syndrome 21
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA260013 rs_387907136

5 SubmittersRCV000024193RCV000477682RCV001002908RCV001257837RCV002228055RCV004794345

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 SubmittersRCV000024194RCV001002907

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 SubmittersRCV000024359RCV000515561RCV001781315

NM_014714.4(IFT140):c.2399+1G>T SNV
Germline
Chr16:1557934 Pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Condition: not provided
Autosomal dominant polycystic kidney disease
IFT140-related disorder
Polycystic kidney disease
Renal cyst
Criteria Provided
Multiple Submitters
No Conflicts
CA129886 rs_376586707

12 SubmittersRCV000024360RCV000515584RCV001075306RCV001536095RCV001818178RCV003993751RCV003924859RCV004760343RCV004786282

NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) SNV
Germline
Chr16:1592176 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
Condition: not provided
Jeune thoracic dystrophy
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
Nephronophthisis
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA129889 rs_201188361

14 SubmittersRCV000024363RCV000255441RCV000515934RCV000626465RCV001328311RCV001249674RCV004752723

NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) SNV
Germline
Chr16:56502382 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA260182 rs_193922710

7 SubmittersRCV000029406RCV004798748RCV000672755RCV004719664

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

8 SubmittersRCV000030701RCV001003124RCV001075439RCV001268748

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
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA260612 rs_387907314

4 SubmittersRCV000030845RCV001257797RCV001852614RCV004814930

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 SubmittersRCV000032549RCV002267722

NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) SNV
Germline
Chr1:197434706 Pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis
Cone dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA228022 rs_62645748

29 SubmittersRCV000032814RCV000032815RCV000086331RCV000554663RCV000787579RCV000505155RCV000762874RCV003313928RCV001097540RCV001275657RCV003324500

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
Joubert syndrome 10
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA343958 rs_312262810

2 SubmittersRCV001383219RCV002496509

NM_000541.5(SAG):c.577C>T (p.Arg193Ter) SNV
Germline
Chr2:233328542 Pathogenic Oguchi disease
Condition: not provided
Retinal dystrophy
Oguchi disease-2
Retinitis pigmentosa 47
Oguchi disease-1
Retinitis pigmentosa 47
Oguchi disease-1
Criteria Provided
Multiple Submitters
No Conflicts
CA130895 rs_201153410

12 SubmittersRCV000034821RCV001040357RCV001073952RCV001270292RCV003224859RCV002272037RCV002477062

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 SubmittersRCV000034824RCV001807749

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 SubmittersRCV000038895RCV000725335RCV000988244RCV001168207RCV001168208

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
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
CDH23-related disorder
Pituitary adenoma 5, multiple types
Rare genetic deafness
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA261801 rs_202052174

19 SubmittersRCV000039276RCV000725220RCV000988383RCV001264702RCV001374881RCV001559300RCV003483451RCV004528197RCV003473285RCV004017329RCV004814963

NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala) SNV
Germline
Chr5:90647666 Conflicting classifications of pathogenicity not specified
Febrile seizures, familial, 4
Condition: not provided
Usher syndrome type 2C
Retinitis pigmentosa
ADGRV1-related disorder
Criteria Provided
Conflicting Classifications
CA138098 rs_190922596

10 SubmittersRCV000039568RCV000146077RCV000954914RCV001151213RCV003389449RCV004549464

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 SubmittersRCV000041436RCV000844624RCV001071445RCV001582535RCV002243688RCV003466890

NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) SNV
Germline
Chr1:216325448 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
CA143213 rs_397517963

6 SubmittersRCV000041663RCV000670778RCV001074760RCV001362594RCV003466891

NM_206933.4(USH2A):c.1036A>C (p.Asn346His) SNV
Germline
Chr1:216325412 Pathogenic Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome
Rare genetic deafness
Condition: not provided
Retinitis pigmentosa
Reviewed By Expert Panel
CA262054 rs_369522997

13 SubmittersRCV000041668RCV001074772RCV000411779RCV000710349RCV000824797RCV000727128RCV001723627

NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) SNV
Germline
Chr1:215782873 Pathogenic/Likely pathogenic Rare genetic deafness
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA262056 rs_111033379

8 SubmittersRCV000041669RCV001353056RCV000670189RCV003450731RCV004814973RCV000802347

NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met) SNV
Germline
Chr1:215782806 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA143221 rs_397517966

4 SubmittersRCV000041670RCV000669162RCV001350663RCV004686573

NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) SNV
Germline
Chr1:215782762 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinal dystrophy
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
See cases
Rare genetic deafness
USH2A-related disorder
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA262058 rs_111033264

19 SubmittersRCV000041673RCV001074824RCV000504880RCV000665210RCV002287354RCV000824783RCV004732588RCV001056065RCV001376413

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 SubmittersRCV000041674RCV000667791RCV001852852RCV003466892

NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) SNV
Germline
Chr1:215782070 Pathogenic/Likely pathogenic Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Rare genetic deafness
Retinitis pigmentosa 39
Nonsyndromic genetic hearing loss
Retinitis pigmentosa
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA262060 rs_202175091

15 SubmittersRCV000041676RCV000666226RCV000804464RCV001073629RCV000824782RCV001293034RCV001544538RCV003324502RCV003323372

NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) SNV
Germline
Chr1:215782058 Pathogenic/Likely pathogenic Rare genetic deafness
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA262062 rs_111033265

5 SubmittersRCV000041677RCV001073926RCV002496659RCV003450738RCV001852854RCV003450737

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 SubmittersRCV000041678RCV000522247RCV000664676RCV003450739RCV003450740

NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys) SNV
Germline
Chr1:215779860 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA143239 rs_397517969

3 SubmittersRCV000041683RCV000666661RCV002514158

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 SubmittersRCV000041697RCV001199582RCV003445116RCV003445115

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 SubmittersRCV000041704RCV000308355RCV000360778RCV000890954

NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) SNV
Germline
Chr1:215728169 Conflicting classifications of pathogenicity not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA143275 rs_142381713

12 SubmittersRCV000041707RCV000725418RCV000986519RCV001579153RCV004814974

NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) SNV
Germline
Chr1:215728142 Pathogenic/Likely pathogenic Rare genetic deafness
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA262070 rs_397517976

8 SubmittersRCV000041710RCV001075329RCV000669396RCV003450757RCV001852856RCV003226175RCV003450756

NM_206933.4(USH2A):c.12067-1G>C SNV
Germline
Chr1:215680377 Pathogenic/Likely pathogenic Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA262072 rs_397517977

5 SubmittersRCV000041711RCV000670110RCV001852857RCV003445118RCV003445117

NM_206933.4(USH2A):c.12067-2A>G SNV
Germline
Chr1:215680378 Pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Rare genetic deafness
Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2
Retinal dystrophy
USH2A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA262073 rs_397517978

18 SubmittersRCV000666727RCV000983997RCV000390593RCV000412841RCV001271128RCV001003259RCV001073917RCV004732590

NM_206933.4(USH2A):c.12295-2A>G SNV
Germline
Chr1:215675618 Pathogenic/Likely pathogenic Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA262074 rs_151148854

8 SubmittersRCV000041714RCV000670554RCV001057968RCV001074339RCV001826587RCV003445119

NM_206933.4(USH2A):c.12295-3T>A SNV
Germline
Chr1:215675619 Pathogenic not specified
Usher syndrome
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa
Reviewed By Expert Panel
CA143283 rs_111033518

10 SubmittersRCV000041717RCV001004773RCV001074786RCV000414389RCV000675157RCV001723628

NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) SNV
Germline
Chr1:215675579 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
USH2A-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA143284 rs_142095945

10 SubmittersRCV000041718RCV001274935RCV001241616RCV001270357RCV001376289RCV002496660RCV004732591RCV004814975

NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) SNV
Germline
Chr1:215675043 Pathogenic Rare genetic deafness
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
CA262082 rs_397517983

5 SubmittersRCV000041731RCV000670430RCV000819445RCV001074436RCV003450770RCV003450771

NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) SNV
Germline
Chr1:215675037 Likely pathogenic not specified
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Reviewed By Expert Panel
CA143304 rs_397517984

8 SubmittersRCV000041732RCV000504620RCV001075301RCV001231366RCV001810411RCV003460549

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 SubmittersRCV000041735RCV000410671RCV000725789RCV000824778

NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) SNV
Germline
Chr1:215674598 Pathogenic/Likely pathogenic Rare genetic deafness
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA262086 rs_111033417

5 SubmittersRCV000041739RCV001073672RCV002514159RCV003450773

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 SubmittersRCV000041745RCV000585560RCV001272941RCV001376370RCV003887893

NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys) SNV
Germline
Chr1:215671004 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
CA143336 rs_372966682

5 SubmittersRCV000041751RCV001272937RCV001245454RCV001376435

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 SubmittersRCV000041752RCV000674521RCV001380766RCV003450782RCV003450783

NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) SNV
Germline
Chr1:215650648 Pathogenic/Likely pathogenic Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA262091 rs_397517990

7 SubmittersRCV000041756RCV000665736RCV001198544RCV003450788RCV003887895RCV001057445

NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) SNV
Germline
Chr1:216323590 Conflicting classifications of pathogenicity not specified
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA143350 rs_35730265

14 SubmittersRCV000041760RCV000828962RCV001099109RCV001099108RCV003887896

NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) SNV
Germline
Chr1:215648594 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA143356 rs_139065588

7 SubmittersRCV000041763RCV000665634RCV001034422RCV001272933RCV001579147RCV003887899

NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) SNV
Germline
Chr1:215640615 Pathogenic/Likely pathogenic Rare genetic deafness
Cone-rod dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA262093 rs_397517994

8 SubmittersRCV000041772RCV000787726RCV000671978RCV004814977RCV003450802RCV001852859RCV003450801RCV003114221

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
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA143395 rs_111033402

7 SubmittersRCV001247642RCV001810412RCV002483032RCV004814978

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
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
CA143403 rs_111033419

7 SubmittersRCV000041788RCV002504925RCV002513599RCV001276136RCV003460550

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
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA262095 rs_111033273

16 SubmittersRCV000041794RCV000413438RCV000678646RCV000787727RCV004799759RCV000984314RCV001074602RCV002483034

NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) SNV
Germline
Chr1:216292352 Conflicting classifications of pathogenicity not specified
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
CA143415 rs_35818432

16 SubmittersRCV000041795RCV000415970RCV001003284RCV001101110RCV001376290

NM_206933.4(USH2A):c.1841-2A>G SNV
Germline
Chr1:216289412 Pathogenic Rare genetic deafness
USH2A-related disorder
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Nonsyndromic genetic hearing loss
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA262097 rs_397518003

13 SubmittersRCV000041799RCV000270130RCV000665036RCV001069761RCV000984014RCV001544537RCV001271238

NM_206933.4(USH2A):c.2052A>G (p.Gln684=) SNV
Germline
Chr1:216251018 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA143433 rs_111033248

13 SubmittersRCV000041805RCV000986546RCV000888471RCV001097279RCV004018917RCV004814979

NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) SNV
Germline
Chr1:216246848 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA143442 rs_111033481

11 SubmittersRCV000041814RCV000986544RCV000946559RCV001098935RCV004814980

NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) SNV
Germline
Chr1:216422073 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Conflicting Classifications
CA143444 rs_368798834

7 SubmittersRCV000041815RCV000666896RCV001075031RCV001376238RCV001560407

NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) SNV
Germline
Chr1:216217421 Conflicting classifications of pathogenicity not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA143454 rs_149304901

13 SubmittersRCV000041821RCV000487811RCV001097185RCV001097184RCV001578841RCV004814981

NM_206933.4(USH2A):c.313C>T (p.Leu105Phe) SNV
Germline
Chr1:216422024 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA143456 rs_375083165

4 SubmittersRCV000041822RCV000668396RCV001470222

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

4 SubmittersRCV000041823RCV000505082RCV003460551

NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) SNV
Germline
Chr1:216207280 Pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Rare genetic deafness
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA262098 rs_397518011

9 SubmittersRCV000041825RCV000669871RCV000824791RCV001074200RCV001386859RCV003450838

NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) SNV
Germline
Chr1:216199817 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA143465 rs_146462407

6 SubmittersRCV000041831RCV000394479RCV000341412RCV000974887

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 SubmittersRCV000041832RCV000291877RCV000346771RCV000669144RCV002513602RCV003162354

NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) SNV
Germline
Chr1:216196698 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Retinitis pigmentosa
Usher syndrome
Usher syndrome type 2A
USH2A-related disorder
Criteria Provided
Conflicting Classifications
CA143476 rs_201709513

15 SubmittersRCV000041837RCV000665274RCV000726718RCV001074345RCV001376516RCV001723629RCV002307377RCV003326116RCV004732594

NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val) SNV
Germline
Chr1:216175347 Conflicting classifications of pathogenicity not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA143485 rs_201710470

5 SubmittersRCV000041843RCV001033957RCV003450845RCV003450846RCV004965271

NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) SNV
Germline
Chr1:216175319 Conflicting classifications of pathogenicity not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA143488 rs_148000219

13 SubmittersRCV000041844RCV000724966RCV001102385RCV001102384

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 SubmittersRCV000041846RCV000270447RCV000324312RCV000513149RCV001073300

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 SubmittersRCV000041848RCV000881175RCV001099313RCV001099314RCV004537152

NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val) SNV
Germline
Chr1:216089061 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA143501 rs_397518017

3 SubmittersRCV000041849RCV000673507RCV002514162

NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) SNV
Germline
Chr1:216073292 Pathogenic Rare genetic deafness
Usher syndrome
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinal dystrophy
USH2A-related disorder
Reviewed By Expert Panel
CA262105 rs_375668376

10 SubmittersRCV000041861RCV000710326RCV001214945RCV000667951RCV003460552RCV001074044RCV004537153

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 SubmittersRCV000041863RCV000585075RCV001276245RCV001588861RCV001543605

NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) SNV
Germline
Chr1:216072958 Pathogenic/Likely pathogenic Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA262107 rs_397518021

8 SubmittersRCV000041869RCV000668739RCV003450858RCV001289411RCV004794353RCV003450859

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 SubmittersRCV000041870RCV000295857RCV000675153RCV001004785RCV001036145RCV001074605RCV002291270

NM_206933.4(USH2A):c.5858-1G>A SNV
Germline
Chr1:216070293 Pathogenic/Likely pathogenic Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA262110 rs_397518023

7 SubmittersRCV000041871RCV000821430RCV000665613RCV003445127RCV001826596

NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) SNV
Germline
Chr1:216070292 Conflicting classifications of pathogenicity not specified
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
USH2A-related disorder
Criteria Provided
Conflicting Classifications
CA143534 rs_41302239

20 SubmittersRCV000041872RCV000504937RCV000726918RCV000765069RCV001196428RCV001579152RCV004724770

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 SubmittersRCV000041873RCV000585540RCV000669397RCV000787924RCV001273044RCV004537154

NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe) SNV
Germline
Chr1:216070107 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Criteria Provided
Conflicting Classifications
CA143540 rs_370597096

4 SubmittersRCV000041876RCV000665501RCV002513603RCV001509571

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 SubmittersRCV000041879RCV000664994RCV000726921RCV001273040

NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) SNV
Germline
Chr1:216046532 Pathogenic Rare genetic deafness
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA262111 rs_111033386

6 SubmittersRCV000041880RCV001073793RCV001042426RCV001826597RCV003450867

NM_206933.4(USH2A):c.6486G>A (p.Gln2162=) SNV
Germline
Chr1:215999058 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA143558 rs_397518025

3 SubmittersRCV000041887RCV000664951RCV002513604

NM_206933.4(USH2A):c.653T>A (p.Val218Glu) SNV
Germline
Chr1:216365084 Pathogenic/Likely pathogenic Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa
Retinal dystrophy
Usher syndrome type 2A
USH2A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA262114 rs_397518026

17 SubmittersRCV000041890RCV000408647RCV000675152RCV000504825RCV001075204RCV001826599RCV004537156

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 SubmittersRCV000041898RCV000126255RCV001097446RCV001273813RCV003888405

NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) SNV
Germline
Chr1:215965369 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA143585 rs_200038092

10 SubmittersRCV000041902RCV000490376RCV000671627RCV000924303

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 SubmittersRCV000041905RCV001205092RCV003450885RCV003466893

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 SubmittersRCV000041908RCV000986529RCV000667778RCV002513605

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 SubmittersRCV000041913RCV000668816

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 SubmittersRCV000041917RCV000888634RCV001101304RCV001101303

NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) SNV
Germline
Chr1:216327637 Pathogenic/Likely pathogenic Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA143613 rs_111033280

13 SubmittersRCV000041918RCV000675158RCV001003288RCV001060026RCV001074162RCV001826601RCV003450896

NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) SNV
Germline
Chr1:216327619 Pathogenic Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA262118 rs_397518036

8 SubmittersRCV000041921RCV000669898RCV001852861RCV003389452RCV001831706RCV003888408RCV003450899

NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) SNV
Germline
Chr1:215878980 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA143623 rs_143240767

10 SubmittersRCV000041924RCV000490269RCV000665134RCV000937215RCV001579280RCV003888409

NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) SNV
Germline
Chr1:215878891 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA262120 rs_111033529

6 SubmittersRCV000041927RCV000505137RCV000664665RCV000937132RCV001074998

NM_206933.4(USH2A):c.8559-2A>G SNV
Germline
Chr1:215877882 Pathogenic Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Rare genetic deafness
Reviewed By Expert Panel
CA262122 rs_397518039

19 SubmittersRCV000041930RCV000132715RCV000592589RCV000710341RCV001075171RCV003460553RCV000665497RCV000824785

NM_206933.4(USH2A):c.879T>G (p.Leu293=) SNV
Germline
Chr1:216325569 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA143640 rs_3767698

6 SubmittersRCV000041935RCV001101202RCV000879540RCV001101203RCV003888412

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
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA262123 rs_397518041

12 SubmittersRCV000041937RCV000504790RCV000666550RCV000760327RCV001075814RCV001193386RCV001273709RCV001376393

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

6 SubmittersRCV000041938RCV000669262RCV001248550RCV001276962RCV003389453

NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter) SNV
Germline
Chr1:215838058 Pathogenic Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA262128 rs_397518046

4 SubmittersRCV000041947RCV001216340RCV001588862

NM_206933.4(USH2A):c.9371+1G>C SNV
Germline
Chr1:215837990 Pathogenic Rare genetic deafness
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA262130 rs_41308425

11 SubmittersRCV000041950RCV001002711RCV000726813RCV001376451RCV004767034

NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) SNV
Germline
Chr1:215817143 Pathogenic/Likely pathogenic Rare genetic deafness
Usher syndrome
Usher syndrome type 2
Inborn genetic diseases
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
USH2A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA262131 rs_397518048

17 SubmittersRCV000041952RCV001003263RCV000624783RCV001831709RCV003387741RCV001055909RCV001074810RCV001723630RCV002504928RCV003492342RCV004732599

NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) SNV
Germline
Chr1:215817108 Pathogenic Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2A
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA262133 rs_73090721

10 SubmittersRCV000041954RCV000674717RCV001075710RCV001273702RCV001388971RCV001778686RCV003450911

NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) SNV
Germline
Chr1:215799066 Pathogenic/Likely pathogenic Rare genetic deafness
Retinitis pigmentosa
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
CA262135 rs_111033263

9 SubmittersRCV000041960RCV000787745RCV000668014RCV001075163RCV001044836RCV003450915RCV003450916

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 SubmittersRCV000043517RCV001852909

NM_017739.4(POMGNT1):c.1285-2A>G SNV
Germline
Chr1:46192438 Pathogenic/Likely pathogenic Muscle eye brain disease
POMGNT1-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2O
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
CA263941 rs_386834012

6 SubmittersRCV000049991RCV000292476RCV000375211RCV000983991RCV001853063RCV003460639RCV002514260

NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg) SNV
Germline
Chr1:46192379 Conflicting classifications of pathogenicity Muscle eye brain disease
Retinitis pigmentosa 76
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Criteria Provided
Conflicting Classifications
CA263945 rs_386834014

6 SubmittersRCV000049993RCV001542551RCV003228903RCV003460640RCV002514261RCV002514262

NM_017739.4(POMGNT1):c.1539+1G>A SNV
Germline
Chr1:46192097 Pathogenic Muscle eye brain disease
Condition: not provided
POMGNT1-related disorder
Autosomal recessive limb-girdle muscular dystrophy
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Muscular dystrophy-dystroglycanopathy
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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Myopathy caused by variation in POMGNT1
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA234711 rs_138642840

24 SubmittersRCV000049995RCV000153760RCV000323217RCV001269143RCV000501155RCV002514263RCV000648199RCV000763345RCV000983990RCV001030748RCV002295277RCV001196668RCV002470740RCV004814990

NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) SNV
Germline
Chr1:46189870 Pathogenic/Likely pathogenic Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Criteria Provided
Multiple Submitters
No Conflicts
CA263954 rs_386834019

8 SubmittersRCV000050000RCV000820354RCV001542522RCV002496725RCV002514265RCV004566907

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
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Criteria Provided
Multiple Submitters
No Conflicts
CA263963 rs_386834024

8 SubmittersRCV000050005RCV000240866RCV001043665RCV002513697RCV004700352RCV001810415

NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) SNV
Germline
Chr1:46194853 Pathogenic Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
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
Criteria Provided
Multiple Submitters
No Conflicts
CA263981 rs_386834034

9 SubmittersRCV000050017RCV000408610RCV000578838RCV001062800RCV000984294RCV000984295RCV002272048RCV003460643

NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) SNV
Germline
Chr1:46193874 Pathogenic Muscle eye brain disease
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Criteria Provided
Multiple Submitters
No Conflicts
CA223256 rs_386834039

8 SubmittersRCV000050023RCV000081807RCV001039421RCV000984204RCV000984205RCV000984300RCV003466920

NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) SNV
Germline
Chr12:88114488 Pathogenic Meckel syndrome, type 4
Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Retinitis pigmentosa
Leber congenital amaurosis
Leber congenital amaurosis 10
Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14
CEP290-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA144389 rs_386834152

11 SubmittersRCV000050146RCV000201755RCV000685655RCV000787812RCV000787559RCV001376367RCV002285263RCV002504949RCV003460645RCV004732641

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 SubmittersRCV000055664RCV001002870RCV001257802

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

3 SubmittersRCV000058868RCV003764740

NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu) SNV
Germline
Chr1:197421741 Pathogenic/Likely pathogenic Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
CA1311998 rs_267598278

4 SubmittersRCV000505040RCV001854256RCV004566911

NM_006269.2(RP1):c.4735T>G (p.Leu1579Val) SNV
Germline
Chr8:54628617 Conflicting classifications of pathogenicity Retinitis pigmentosa 1
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_200860068

3 SubmittersRCV001000883RCV001230487RCV001158609

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 SubmittersRCV000076911RCV001236550RCV001723654

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 SubmittersRCV000078554RCV000778735RCV001074335RCV001151258

NM_000283.4(PDE6B):c.615C>T (p.Asp205=) SNV
Germline
Chr4:634823 Conflicting classifications of pathogenicity not specified
Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Criteria Provided
Conflicting Classifications
CA145991 rs_149293844

7 SubmittersRCV000078555RCV000962986RCV000282490RCV000335369

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 SubmittersRCV000078556RCV000488132RCV000987384RCV001151689

NM_000326.5(RLBP1):c.303C>T (p.Arg101=) SNV
Germline
Chr15:89217163 Conflicting classifications of pathogenicity Condition: not provided
Pigmentary retinal dystrophy
Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA220669 rs_144254383

5 SubmittersRCV000078643RCV000292834RCV000350084RCV000398047RCV004815001

NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) SNV
Germline
Chr1:94042767 Pathogenic/Likely pathogenic Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
ABCA4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA220683 rs_61750120

18 SubmittersRCV000078665RCV000150052RCV001002834RCV001074904RCV001195927RCV002490678RCV004537308

NM_000350.3(ABCA4):c.5461-10T>C SNV
Germline
Chr1:94011395 Pathogenic/Likely pathogenic Cone-rod dystrophy 3
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Benign concentric annular macular dystrophy
Retinal dystrophy
Macular dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa
Stargardt disease
not specified
Retinitis pigmentosa 19
ABCA4-related disorder
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA220687 rs_1800728

32 SubmittersRCV000008366RCV000078669RCV000177965RCV000210325RCV000210327RCV000504857RCV000678511RCV000763440RCV000787510RCV000787771RCV001000430RCV001542559RCV004732655RCV004975272

NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) SNV
Germline
Chr5:149896500 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA146172 rs_17711594

6 SubmittersRCV000078824RCV000407553RCV000958573RCV004815003

NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr) SNV
Germline
Chr5:149884543 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 43
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA146174 rs_78775072

5 SubmittersRCV000078825RCV001001657RCV001156330RCV001521115

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 SubmittersRCV000078826RCV000386318

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 SubmittersRCV000079373RCV001138826RCV001516841

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 SubmittersRCV000079529RCV001164893RCV001449926RCV003935031

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 SubmittersRCV000079542RCV000513065RCV000664906RCV001162621

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

14 SubmittersRCV000177866RCV000210330RCV000504744RCV001376198

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 SubmittersRCV000079628RCV001000458RCV001121843RCV001512152

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 SubmittersRCV000174506RCV000505022RCV001075139RCV002498400

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 SubmittersRCV000080008RCV000763957RCV000787888RCV003935039

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 SubmittersRCV000080036RCV000206963RCV000966384RCV001106782RCV003974966

NM_004698.4(PRPF3):c.1032A>G (p.Thr344=) SNV
Germline
Chr1:150335238 Conflicting classifications of pathogenicity Retinitis pigmentosa
PRPF3-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA222786 rs_143350315

4 SubmittersRCV001100611RCV003952514RCV000081164

NM_006017.3(PROM1):c.1977C>T (p.Asn659=) SNV
Germline
Chr4:15991228 Conflicting classifications of pathogenicity not specified
Condition: not provided
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA148434 rs_149028760

6 SubmittersRCV000081346RCV000892544RCV000351307RCV000296436RCV000326660RCV000381327

NM_006343.3(MERTK):c.60A>T (p.Arg20Ser) SNV
Germline
Chr2:111898795 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 38
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA148491 rs_35898499

6 SubmittersRCV000358600RCV003389454RCV000081391RCV000086964

NM_006899.5(IDH3B):c.117+6C>A SNV
Germline
Chr20:2663919 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
IDH3B-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA148540 rs_191680997

5 SubmittersRCV000395761RCV000970913RCV003935056RCV000081467

NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=) SNV
Germline
Chr2:96289811 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA223097 rs_375734152

4 SubmittersRCV000266740RCV000081582

NM_014336.5(AIPL1):c.244C>T (p.His82Tyr) SNV
Germline
Chr17:6433951 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 4
AIPL1-related disorder
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA223111 rs_144822294

5 SubmittersRCV001125500RCV001125501RCV004732656RCV004815007RCV000081612

NM_014336.5(AIPL1):c.267C>T (p.Cys89=) SNV
Germline
Chr17:6433928 Conflicting classifications of pathogenicity not specified
Retinitis Pigmentosa, Dominant
Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA223113 rs_62653020

9 SubmittersRCV000259077RCV000345097RCV000306547RCV001080955RCV004815008RCV000081613

NM_014336.5(AIPL1):c.516T>C (p.His172=) SNV
Germline
Chr17:6427007 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Retinitis pigmentosa
not specified
Leber congenital amaurosis 4
AIPL1-related disorder
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA223115 rs_62637017

10 SubmittersRCV000311702RCV000371077RCV001001388RCV001086330RCV004542792RCV004815009RCV000081614

NM_016247.4(IMPG2):c.1582A>G (p.Ile528Val) SNV
Germline
Chr3:101244749 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA223245 rs_142710242

4 SubmittersRCV000362724RCV003888446RCV000081789

NM_016247.4(IMPG2):c.3038C>T (p.Pro1013Leu) SNV
Germline
Chr3:101232976 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA148793 rs_116450347

4 SubmittersRCV000401059RCV000898540RCV000081792

NM_018418.5(SPATA7):c.729C>T (p.Arg243=) SNV
Germline
Chr14:88426588 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 3
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA223536 rs_151338404

6 SubmittersRCV000327877RCV000952079RCV001699118RCV000081956

NM_022367.4(SEMA4A):c.1301T>C (p.Met434Thr) SNV
Germline
Chr1:156172992 Conflicting classifications of pathogenicity Colorectal cancer
Cone-rod dystrophy 10
Retinitis pigmentosa
Retinal dystrophy
Optic atrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA223636 rs_146822426

5 SubmittersRCV000417364RCV001095830RCV001095829RCV004815015RCV004815016RCV000082098

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 SubmittersRCV000082244RCV001854439

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 SubmittersRCV000416124RCV001138007RCV001274720RCV003952528

NM_152419.3(HGSNAT):c.1250+1G>A SNV
Germline
Chr8:43191596 Pathogenic/Likely pathogenic Condition: not provided
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Sanfilippo syndrome
Retinitis pigmentosa 73
Criteria Provided
Multiple Submitters
No Conflicts
CA224186 rs_398124544

10 SubmittersRCV000082652RCV000668206RCV001074721RCV001065437RCV001192639RCV002288581

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 SubmittersRCV000082654RCV000671662RCV001221115

NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter) SNV
Germline
Chr1:215970720 Pathogenic Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA224398 rs_398124619

9 SubmittersRCV001075205RCV000675016RCV001002688RCV000760348RCV001376458

NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) SNV
Germline
Chr1:215888734 Conflicting classifications of pathogenicity Retinitis pigmentosa
Usher syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA224400 rs_398124620

4 SubmittersRCV001723661RCV003230399RCV000082831

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
Retinitis pigmentosa
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Criteria Provided
Multiple Submitters
No Conflicts
CA149722 rs_149614625

6 SubmittersRCV001228000RCV001723662RCV002483157RCV004737195RCV000083268

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
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA149724 rs_587777079

4 SubmittersRCV000083270RCV000201713RCV002483158RCV003225027

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
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
IFT172-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA149729 rs_145541911

6 SubmittersRCV000083274RCV001303423RCV002490732RCV003153361RCV004549522RCV003278664

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 SubmittersRCV000083279RCV001854452

NM_014714.4(IFT140):c.874G>A (p.Val292Met) SNV
Germline
Chr16:1587961 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
Jeune thoracic dystrophy
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA149747 rs_431905521

6 SubmittersRCV000083297RCV000515922RCV000626469RCV004579537RCV004815018

NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) SNV
Germline
Chr16:1571494 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 80
IFT140-related disorder
Retinitis pigmentosa
Short-rib thoracic dysplasia without polydactyly
Criteria Provided
Conflicting Classifications
CA149748 rs_199826737

14 SubmittersRCV000626462RCV001075445RCV001268554RCV001542691RCV003398688RCV002509205RCV000083298

NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) SNV
Germline
Chr6:42722086 Conflicting classifications of pathogenicity Condition: not provided
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Retinitis pigmentosa
Pigmentary retinal dystrophy
Cone-rod dystrophy
PRPH2-related disorder
Adult-onset foveomacular vitelliform dystrophy
not specified
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA226218 rs_61755775

8 SubmittersRCV000084960RCV001158408RCV001158409RCV001165124RCV001158410RCV001165123RCV001086017RCV001165122RCV001699036RCV003888453

NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) SNV
Germline
Chr6:42722298 Conflicting classifications of pathogenicity Retinitis pigmentosa
Cone-rod dystrophy
Pigmentary retinal dystrophy
Patterned macular dystrophy 1
PRPH2-related disorder
Choroidal dystrophy, central areolar 2
Adult-onset foveomacular vitelliform dystrophy
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA226230 rs_61754402

9 SubmittersRCV001165229RCV001165231RCV001158514RCV001165232RCV001078785RCV001165228RCV001165230RCV003888454RCV000084967

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

11 SubmittersRCV000084969RCV000161145RCV001051727RCV001074856RCV001250306RCV001250316RCV001250317RCV001353037RCV001723663RCV002508140

NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg) SNV
Germline
Chr6:42721877 Pathogenic/Likely pathogenic Condition: not provided
PRPH2-related disorder
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA226236 rs_61755785

7 SubmittersRCV000084973RCV001315051RCV003238719RCV004815032

NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) SNV
Germline
Chr6:42721866 Pathogenic/Likely pathogenic PRPH2-related disorder
Condition: not provided
Retinal dystrophy
Blurred vision
Abnormality of retinal pigmentation
Pigmentary retinopathy
Macular degeneration
Retinitis pigmentosa
Pigmentary retinal dystrophy
Stargardt disease
Criteria Provided
Multiple Submitters
No Conflicts
CA226238 rs_61755787

7 SubmittersRCV001378482RCV000084975RCV001074377RCV000626661RCV001250327RCV001270171RCV001250326

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 SubmittersRCV000084985RCV001250370RCV002514515

NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) SNV
Germline
Chr6:42704559 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa
PRPH2-related disorder
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA226273 rs_61755800

8 SubmittersRCV000085000RCV000504657RCV001854491RCV003888459

NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) SNV
Germline
Chr6:42704547 Pathogenic/Likely pathogenic Condition: not provided
PRPH2-related disorder
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA226283 rs_61755805

9 SubmittersRCV000085006RCV001058357RCV000787871RCV004815033

NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) SNV
Germline
Chr6:42704534 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa
PRPH2-related disorder
Retinal dystrophy
Macular dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA226293 rs_61755810

8 SubmittersRCV000085011RCV001003141RCV001346727RCV001075618RCV004798773

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
not specified
PRPH2-related disorder
Criteria Provided
Conflicting Classifications
CA226298 rs_61755813

7 SubmittersRCV000085014RCV001159969RCV001164883RCV001164884RCV001164885RCV001164887RCV001164886RCV001530323RCV001439459

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 SubmittersRCV000085018RCV001003139

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 SubmittersRCV000085019RCV000132580RCV003114252

NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) SNV
Germline
Chr6:42704396 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 7
PRPH2-related disorder
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA226312 rs_62645935

7 SubmittersRCV000085022RCV001705814RCV002514517RCV004815036

NM_000322.5(PRPH2):c.828+3A>T SNV
Germline
Chr6:42704362 Pathogenic Condition: not provided
PRPH2-related disorder
Retinal dystrophy
Retinitis pigmentosa
Doyne honeycomb retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 2
Choroideremia
Cone-rod dystrophy
Stargardt disease
Patterned macular dystrophy 1
Criteria Provided
Multiple Submitters
No Conflicts
CA226319 rs_281865373

10 SubmittersRCV000085026RCV001047656RCV001073686RCV001250357RCV001250358RCV001250346RCV001250347RCV001250345RCV001250359RCV001250344RCV001542666

NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) SNV
Germline
Chr6:42698470 Conflicting classifications of pathogenicity Condition: not provided
PRPH2-related disorder
Retinitis pigmentosa
Stargardt disease
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA226322 rs_62645939

10 SubmittersRCV000085028RCV001438086RCV001161271RCV001250360RCV004815038

NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) SNV
Germline
Chr6:42698398 Conflicting classifications of pathogenicity Adult-onset foveomacular vitelliform dystrophy
Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Choroidal dystrophy, central areolar 2
Cone-rod dystrophy
PRPH2-related disorder
Retinitis pigmentosa
Stargardt disease
Patterned dystrophy of the retinal pigment epithelium
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA226331 rs_61748434

9 SubmittersRCV000261808RCV000298015RCV000356624RCV000301680RCV000406549RCV001066591RCV000787872RCV001250365RCV001250366RCV004815041RCV000085034

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 SubmittersRCV000010579RCV000085047RCV001073791RCV002514520

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 SubmittersRCV000085084RCV000787714

NM_001034853.2(RPGR):c.865A>G (p.Ile289Val) SNV
Germline
ChrX:38304704 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Primary ciliary dyskinesia
not specified
RPGR-related disorder
Criteria Provided
Conflicting Classifications
CA226452 rs_62640587

5 SubmittersRCV000085129RCV000990776RCV001078829RCV001844036RCV003891584

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 SubmittersRCV000085132RCV001251553

NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro) SNV
Germline
Chr1:68438237 Likely pathogenic Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Reviewed By Expert Panel
CA226480 rs_62646883

3 SubmittersRCV000085147RCV001854496RCV004801916

NM_000329.3(RPE65):c.11+5G>A SNV
Germline
Chr1:68449890 Pathogenic Leber congenital amaurosis 2
Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
RPE65-related disorder
Inborn genetic diseases
Reviewed By Expert Panel
CA226483 rs_61751276

24 SubmittersRCV000022752RCV000085149RCV000524808RCV000505050RCV000678614RCV001275342RCV002498448RCV003460766RCV004732661RCV004955275

NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) SNV
Germline
Chr1:68446837 Pathogenic Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Condition: not provided
Retinitis pigmentosa
Reviewed By Expert Panel
CA226491 rs_61751281

10 SubmittersRCV001074416RCV001047503RCV001250675RCV001275340RCV002498450RCV004527312RCV000085155RCV000132582

NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) SNV
Germline
Chr1:68431491 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
CA226497 rs_62636298

5 SubmittersRCV000085159RCV001041992RCV001089894RCV002509207

NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) SNV
Germline
Chr1:68431371 Likely pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis
Inborn genetic diseases
Reviewed By Expert Panel
CA226499 rs_62636299

7 SubmittersRCV000085160RCV001074061RCV001323215RCV003466997RCV003764786RCV004767068RCV004955276

NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) SNV
Germline
Chr1:68446824 Pathogenic Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
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 SubmittersRCV000085166RCV000701390RCV001257816RCV001250676RCV001275338RCV001808321RCV004528783

NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) SNV
Germline
Chr1:68431131 Pathogenic/Likely pathogenic Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA226513 rs_62637006

6 SubmittersRCV000085172RCV001250694RCV001376503RCV002513922

NM_000329.3(RPE65):c.1418T>A (p.Val473Asp) SNV
Germline
Chr1:68431097 Likely pathogenic Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Reviewed By Expert Panel
CA226515 rs_62637007

6 SubmittersRCV000085173RCV001250706RCV003764787RCV004786365

NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) SNV
Germline
Chr1:68429927 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
CA226517 rs_62653015

10 SubmittersRCV000085175RCV001250703RCV001854497RCV001826773RCV003764788

NM_000329.3(RPE65):c.235T>C (p.Tyr79His) SNV
Germline
Chr1:68446720 Likely pathogenic Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Reviewed By Expert Panel
CA226528 rs_61752869

3 SubmittersRCV000085182RCV003764790RCV004801917

NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) SNV
Germline
Chr1:68444857 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa
Leber congenital amaurosis 2
Inborn genetic diseases
RPE65-related recessive retinopathy
Retinal dystrophy
Condition: not provided
Reviewed By Expert Panel
CA226533 rs_61752873

10 SubmittersRCV001061074RCV001275336RCV001731373RCV002247485RCV003242980RCV003764791RCV004815048RCV000085186

NM_000329.3(RPE65):c.2T>C (p.Met1Thr) SNV
Germline
Chr1:68449904 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 20
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA226537 rs_281865285

4 SubmittersRCV000085190RCV001376504RCV001377675RCV004815049

NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) SNV
Germline
Chr1:68444825 Pathogenic Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related disorder
Leber congenital amaurosis
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Retinal dystrophy
Reviewed By Expert Panel
CA226540 rs_62642584

11 SubmittersRCV000085192RCV000763389RCV001249229RCV001275333RCV003764793RCV003467000RCV004815050

NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) SNV
Germline
Chr1:68444656 Pathogenic Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Inborn genetic diseases
Retinal dystrophy
RPE65-related recessive retinopathy
Reviewed By Expert Panel
CA226545 rs_61752877

13 SubmittersRCV000085195RCV000538669RCV000986332RCV001275332RCV002490740RCV003242981RCV003888467RCV003764794

NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp) SNV
Germline
Chr1:68444596 Likely pathogenic Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Reviewed By Expert Panel
CA226550 rs_61752880

4 SubmittersRCV000085198RCV001854498RCV004595854RCV004566978

NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) SNV
Germline
Chr1:68440997 Pathogenic Condition: not provided
Retinitis pigmentosa 20
RPE65-related disorder
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy
Reviewed By Expert Panel
CA226557 rs_61752883

10 SubmittersRCV000085203RCV000678617RCV000778252RCV001250708RCV001245153RCV001831894RCV004527316

NM_000329.3(RPE65):c.544C>T (p.His182Tyr) SNV
Germline
Chr1:68440952 Pathogenic Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Reviewed By Expert Panel
CA226559 rs_61752884

5 SubmittersRCV000085205RCV001257821RCV001388257RCV004527317RCV004566979

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 SubmittersRCV000085218RCV001250672RCV001218527RCV002222384RCV003764796

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 SubmittersRCV000085220RCV000678618RCV001207227RCV001831895RCV003764797

NM_000329.3(RPE65):c.858+1G>A SNV
Germline
Chr1:68439190 Pathogenic Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Criteria Provided
Single Submitter
CA226582 rs_61752899

3 SubmittersRCV000085223RCV001250702RCV001388254

NM_000329.3(RPE65):c.858+1G>T SNV
Germline
Chr1:68439190 Pathogenic Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA226583 rs_61752899

3 SubmittersRCV000085224RCV001270786RCV002513924

NM_000329.3(RPE65):c.95-2A>T SNV
Germline
Chr1:68446862 Pathogenic Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinal dystrophy
Leber congenital amaurosis
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
CA226591 rs_61751279

13 SubmittersRCV000085232RCV000668398RCV001074560RCV001003189RCV001250674RCV002498451RCV003460771

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 SubmittersRCV000085233RCV001089895RCV001854499RCV003323394

NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) SNV
Germline
Chr1:68438951 Pathogenic Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Criteria Provided
Single Submitter
CA226599 rs_61752908

3 SubmittersRCV000085237RCV000808234RCV001250691

NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) SNV
Germline
Chr1:94079421 Conflicting classifications of pathogenicity Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
ABCA4-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA226872 rs_61748549

12 SubmittersRCV000764205RCV000986372RCV001073759RCV001257823RCV001096640RCV000085376

NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) SNV
Germline
Chr1:94079339 Pathogenic Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Retinitis pigmentosa
Stargardt disease 3
Criteria Provided
Multiple Submitters
No Conflicts
CA179692 rs_61748550

11 SubmittersRCV000085378RCV000152707RCV001074409RCV002513925RCV003398695RCV004558301

NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) SNV
Germline
Chr1:94063262 Conflicting classifications of pathogenicity Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Macular degeneration
Retinal dystrophy
ABCA4-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA226906 rs_61752395

6 SubmittersRCV000276834RCV000315522RCV000363019RCV000369062RCV001074421RCV001100054RCV000085407

NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) SNV
Germline
Chr1:94063224 Pathogenic/Likely pathogenic Condition: not provided
ABCA4-related disorder
Cone-rod dystrophy 3
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Retinal dystrophy
Stargardt disease 3
Criteria Provided
Multiple Submitters
No Conflicts
CA226915 rs_61748558

12 SubmittersRCV000085413RCV000778263RCV000782281RCV000763048RCV000761253RCV001074836RCV004558302

NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro) SNV
Germline
Chr1:94063157 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA226919 rs_61748559

5 SubmittersRCV000085417RCV001074238RCV004800281

NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) SNV
Germline
Chr1:94111561 Pathogenic/Likely pathogenic Condition: not provided
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Stargardt disease 3
Criteria Provided
Multiple Submitters
No Conflicts
CA226931 rs_55732384

8 SubmittersRCV000085427RCV000408452RCV000763051RCV001073359RCV004558304

NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) SNV
Germline
Chr1:94062710 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Cone-rod dystrophy 3
ABCA4-related disorder
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Stargardt disease 3
Stargardt disease
Criteria Provided
Multiple Submitters
No Conflicts
CA226932 rs_61749409

22 SubmittersRCV000085428RCV000504951RCV000408597RCV000850520RCV001723664RCV001353025RCV001849310RCV002498452RCV002250560RCV004558305RCV003324506

NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) SNV
Germline
Chr1:94062587 Conflicting classifications of pathogenicity Macular degeneration
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA201008 rs_61749417

9 SubmittersRCV000260757RCV000353201RCV000356519RCV000318324RCV000986369RCV001075850RCV001098279RCV000085445RCV000174470

NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn) SNV
Germline
Chr1:94062581 Pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA226960 rs_61749418

5 SubmittersRCV000085447RCV001074983RCV004689454

NM_000350.3(ABCA4):c.1937+1G>A SNV
Germline
Chr1:94062576 Pathogenic Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Stargardt disease 3
See cases
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA226961 rs_61752401

11 SubmittersRCV000408499RCV001542645RCV004558306RCV004584346RCV004815084RCV000085448

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 SubmittersRCV000008351RCV000008352RCV000085450RCV000504968

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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA226964 rs_62654395

7 SubmittersRCV000085451RCV000132588RCV001074366RCV002490741

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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA226965 rs_61749420

12 SubmittersRCV000085452RCV000408546RCV000763047RCV001074668RCV004732662

NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) SNV
Germline
Chr1:94111537 Pathogenic/Likely pathogenic Condition: not provided
Peripheral neuropathy
Abnormal macular morphology
Abnormal retinal morphology
Retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA226972 rs_62654397

8 SubmittersRCV000085457RCV000414796RCV000626666RCV001074514RCV001198384RCV004796008RCV004529883RCV004586547

NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly) SNV
Germline
Chr1:94111517 Pathogenic Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA226985 rs_61748526

4 SubmittersRCV000085466RCV000504688RCV004782054

NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg) SNV
Germline
Chr1:94055237 Pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
ABCA4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA227001 rs_61749433

6 SubmittersRCV000085480RCV001075705RCV004586548RCV004732665

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 SubmittersRCV000085496RCV003235038

NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) SNV
Germline
Chr1:94048921 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Macular degeneration
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
ABCA4-related disorder
Age related macular degeneration 2
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227022 rs_61749440

11 SubmittersRCV000260644RCV000315748RCV000280747RCV000375069RCV001096530RCV001197697RCV004815090RCV000085500

NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) SNV
Germline
Chr1:94046960 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Macular degeneration
Stargardt Disease, Recessive
ABCA4-related disorder
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227045 rs_61754033

5 SubmittersRCV000271906RCV000287276RCV000377007RCV000322409RCV001099949RCV004815093RCV000085518

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
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA227051 rs_61749451

7 SubmittersRCV000085523RCV000504717RCV000505078RCV002498454RCV004732666

NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) SNV
Germline
Chr1:94044692 Pathogenic/Likely pathogenic Condition: not provided
Macular dystrophy
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder
Optic atrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227061 rs_61749455

12 SubmittersRCV000085531RCV000505091RCV001073380RCV002247488RCV003989317RCV004699118RCV004529886RCV004815096

NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala) SNV
Germline
Chr1:94043471 Pathogenic Condition: not provided
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227075 rs_61749457

3 SubmittersRCV000085543RCV004796009

NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) SNV
Germline
Chr1:94043462 Pathogenic/Likely pathogenic Condition: not provided
ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Stargardt disease
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA227078 rs_61749459

8 SubmittersRCV000085545RCV004529887RCV000408496RCV004815097RCV003324507RCV004800282

NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) SNV
Germline
Chr1:94042877 Pathogenic Condition: not provided
ABCA4-related disorder
Cone-rod dystrophy
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227093 rs_61750065

7 SubmittersRCV000085559RCV002255094RCV003324508RCV004689455RCV004815102

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
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
ABCA4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA227097 rs_61751398

13 SubmittersRCV000085562RCV001075833RCV001199228RCV001814057RCV001808323RCV002498455RCV002466427RCV004732669

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
Stargardt disease
Cone-rod dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227106 rs_62645946

9 SubmittersRCV000085568RCV000779010RCV001074134RCV001723665RCV002247489RCV002051808RCV003324510RCV003324509

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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinal dystrophy
ABCA4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA227116 rs_1801269

11 SubmittersRCV000085576RCV000408578RCV000763045RCV001199211RCV001075726RCV004732670

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
Retinitis pigmentosa
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227169 rs_61750137

12 SubmittersRCV000085616RCV000408549RCV001074847RCV003155072RCV002490742

NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) SNV
Germline
Chr1:94030497 Conflicting classifications of pathogenicity Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
ABCA4-related disorder
Retinal dystrophy
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA202170 rs_1800549

9 SubmittersRCV000307168RCV000294305RCV000346856RCV000408392RCV001098065RCV003888474RCV000085624RCV000176915

NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp) SNV
Germline
Chr1:94030464 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA227182 rs_61750140

4 SubmittersRCV000085628RCV004815112RCV001257845

NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) SNV
Germline
Chr1:94029527 Pathogenic/Likely pathogenic Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Age related macular degeneration 2
Retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA227192 rs_61750145

14 SubmittersRCV000085636RCV000408536RCV001002829RCV001198562RCV001074852RCV002498456RCV004732671

NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) SNV
Germline
Chr1:94029522 Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA227193 rs_61750146

13 SubmittersRCV000408472RCV000763043RCV001073630RCV001808325RCV004732672RCV000085637

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
ABCA4-related disorder
Macular dystrophy
Retinitis pigmentosa 19
See cases
Criteria Provided
Multiple Submitters
No Conflicts
CA227198 rs_61751402

20 SubmittersRCV000085641RCV000177442RCV000210300RCV000779003RCV000787763RCV001542643RCV004584347

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 SubmittersRCV000008343RCV000008344RCV000085647RCV001723666

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

14 SubmittersRCV000085656RCV000177509RCV000210286RCV000623715RCV001002827RCV001075849RCV001542561

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
Age-related macular degeneration
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinitis pigmentosa
ABCA4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA227219 rs_62642574

12 SubmittersRCV000085657RCV000177510RCV001002826RCV001074286RCV001535669RCV003235039RCV004529890

NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) SNV
Germline
Chr1:94103119 Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy
Abnormal retinal morphology
Inborn genetic diseases
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
ABCA4-related disorder
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227225 rs_62646863

17 SubmittersRCV000504910RCV000626667RCV000622993RCV000764207RCV001100155RCV004815116RCV000085663

NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) SNV
Germline
Chr1:94021934 Conflicting classifications of pathogenicity ABCA4-related disorder
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Retinal dystrophy
Stargardt disease
Cone-rod dystrophy
Cone-rod dystrophy 3
Stargardt disease
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227226 rs_1762111

18 SubmittersRCV000314956RCV000407014RCV000335992RCV000505175RCV000787502RCV000787778RCV001005005RCV002509209RCV000085664

NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) SNV
Germline
Chr1:94021695 Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Stargardt disease
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 19
Retinitis pigmentosa
ABCA4-related disorder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA227239 rs_61750155

18 SubmittersRCV000408465RCV001074177RCV001002825RCV001257846RCV001808326RCV003387758RCV004732673RCV000085674

NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) SNV
Germline
Chr1:94021340 Pathogenic/Likely pathogenic; other Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Leber congenital amaurosis
Stargardt disease
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Cone-rod dystrophy 3
Criteria Provided
Multiple Submitters
No Conflicts
CA227253 rs_61751404

20 SubmittersRCV000085683RCV000210311RCV000408519RCV000505114RCV000787504RCV002505017RCV004732674RCV004760372

NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) SNV
Germline
Chr1:94021332 Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227255 rs_61753017

9 SubmittersRCV000986355RCV001075879RCV000787506RCV000085685

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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227272 rs_61750564

5 SubmittersRCV000085697RCV000408469RCV002490743RCV004815120

NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro) SNV
Germline
Chr1:94019592 Pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA227279 rs_61750567

4 SubmittersRCV000085703RCV001074107RCV004689457

NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) SNV
Germline
Chr1:94014687 Pathogenic/Likely pathogenic Condition: not provided
Stargardt disease
Retinal dystrophy
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA227298 rs_61750571

8 SubmittersRCV000085721RCV000787509RCV001074187RCV001723668RCV001352958RCV004529892

NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) SNV
Germline
Chr1:94014622 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA227304 rs_61751406

11 SubmittersRCV000504739RCV000085725RCV000677343RCV004767070

NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) SNV
Germline
Chr1:94014590 Pathogenic/Likely pathogenic Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Age related macular degeneration 2
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA227306 rs_61753029

10 SubmittersRCV001074166RCV001352967RCV000085727RCV001199290RCV004767071

NM_000350.3(ABCA4):c.5460+1G>A SNV
Germline
Chr1:94014542 Pathogenic Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa
Stargardt disease
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227308 rs_61753030

6 SubmittersRCV000085729RCV001257848RCV000791319RCV001002813RCV004815123

NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) SNV
Germline
Chr1:94010911 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
Severe early-childhood-onset retinal dystrophy
Stargardt disease
ABCA4-related disorder
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA202869 rs_1801466

15 SubmittersRCV000348932RCV000293913RCV000309306RCV000391356RCV000721173RCV001002812RCV001097975RCV001197336RCV001262623RCV001723669RCV004815126RCV000085744RCV000178424

NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) SNV
Germline
Chr1:94010821 Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy
Inborn genetic diseases
ABCA4-related disorder
Retinitis pigmentosa
Stargardt disease
Retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227333 rs_1800552

19 SubmittersRCV000408593RCV000623966RCV000778998RCV000787764RCV000787513RCV001075015RCV001196150RCV002470766RCV000085752

NM_000350.3(ABCA4):c.5714+5G>A SNV
Germline
Chr1:94010795 Pathogenic/Likely pathogenic Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Stargardt disease
Stargardt disease
Cone-rod dystrophy
Retinal dystrophy
ABCA4-related disorder
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Optic atrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA227338 rs_61751407

32 SubmittersRCV000210303RCV000210321RCV000332324RCV000515694RCV000845081RCV001074898RCV000778997RCV001196124RCV002498458RCV004815127RCV000085757

NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) SNV
Germline
Chr1:94008290 Conflicting classifications of pathogenicity Condition: not provided
not specified
Macular degeneration
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
ABCA4-related disorder
Age related macular degeneration 2
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Conflicting Classifications
CA285822 rs_56142141

9 SubmittersRCV000085768RCV000211880RCV000284620RCV000339604RCV000375640RCV000379050RCV001096228RCV001195781RCV003888479RCV004562249

NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) SNV
Germline
Chr1:94007710 Pathogenic/Likely pathogenic Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA227357 rs_61750639

8 SubmittersRCV001002809RCV001075771RCV000085778

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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Vitreoretinopathy
Macular dystrophy
Progressive cone dystrophy (without rod involvement)
Age related macular degeneration 2
Retinal dystrophy
ABCA4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA227366 rs_61750641

18 SubmittersRCV000085787RCV000178545RCV000763436RCV000787516RCV000787517RCV000787766RCV001197157RCV001074874RCV004529893

NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) SNV
Germline
Chr1:94005470 Pathogenic Condition: not provided
Stargardt disease
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA227369 rs_61753038

10 SubmittersRCV000085790RCV000787772RCV000763435RCV001073783RCV002283455RCV004732675

NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg) SNV
Germline
Chr1:94001961 Pathogenic Condition: not provided
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227373 rs_61753039

3 SubmittersRCV000085792RCV002490744

NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) SNV
Germline
Chr1:94001885 Conflicting classifications of pathogenicity Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Macular degeneration
Condition: not provided
ABCA4-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA227382 rs_61748519

6 SubmittersRCV000277538RCV000332637RCV000292818RCV000387042RCV000085800RCV001101661RCV003888481

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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA227396 rs_61748520

8 SubmittersRCV000085811RCV000318700RCV001073884RCV002490746RCV004529894

NM_000350.3(ABCA4):c.635G>A (p.Arg212His) SNV
Germline
Chr1:94098927 Conflicting classifications of pathogenicity Condition: not provided
not specified
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
ABCA4-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA203214 rs_6657239

11 SubmittersRCV000085814RCV000179292RCV000269487RCV000315191RCV000369853RCV000369400RCV001098368RCV003888483

NM_000350.3(ABCA4):c.6386+2C>G SNV
Germline
Chr1:94001000 Pathogenic Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227400 rs_61753043

8 SubmittersRCV000085816RCV000408502RCV003225930RCV004815132

NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) SNV
Germline
Chr1:94000870 Pathogenic Condition: not provided
Severe early-childhood-onset retinal dystrophy
Visual loss
Blindness
Macular degeneration
Retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA227404 rs_61750654

12 SubmittersRCV000085820RCV000132593RCV000414922RCV000505094RCV004720238RCV004724804

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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227420 rs_61748538

7 SubmittersRCV000085832RCV000504919RCV002470767RCV002498460

NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) SNV
Germline
Chr1:93997932 Pathogenic/Likely pathogenic Condition: not provided
Cone dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227425 rs_61753046

13 SubmittersRCV000085837RCV000504742RCV000408450RCV001352970RCV004529895RCV004794359

NM_000350.3(ABCA4):c.71G>A (p.Arg24His) SNV
Germline
Chr1:94113062 Pathogenic/Likely pathogenic Condition: not provided
ABCA4-related disorder
Retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227449 rs_62645958

8 SubmittersRCV000085859RCV000779009RCV001074842RCV004796010

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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Macular dystrophy
Retinitis pigmentosa
Retinal dystrophy
Cone-rod dystrophy 3
ABCA4-related disorder
Stargardt disease
Criteria Provided
Multiple Submitters
No Conflicts
CA227458 rs_62645944

18 SubmittersRCV000085866RCV000408540RCV000678516RCV000763049RCV000787525RCV000787526RCV001074394RCV003224863RCV004529896RCV003993802

NM_000350.3(ABCA4):c.983A>T (p.Glu328Val) SNV
Germline
Chr1:94080594 Pathogenic/Likely pathogenic Condition: not provided
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227477 rs_61751419

3 SubmittersRCV000085879RCV004796011

NM_000554.6(CRX):c.253-15G>A SNV
Germline
Chr19:47839305 Conflicting classifications of pathogenicity Cone-rod dystrophy 2
Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227619 rs_145805694

7 SubmittersRCV000374438RCV000282603RCV000335244RCV001512740RCV000085996

NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) SNV
Germline
Chr19:47839492 Conflicting classifications of pathogenicity Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Leber congenital amaurosis 7
Leber congenital amaurosis 1
Cone-rod dystrophy 2
Autosomal dominant retinitis pigmentosa
CRX-related disorder
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227624 rs_61748442

11 SubmittersRCV000787829RCV001089193RCV001131569RCV000990235RCV001131568RCV001257854RCV004755770RCV004815140RCV000086001

NM_000554.6(CRX):c.549G>A (p.Gly183=) SNV
Germline
Chr19:47839616 Conflicting classifications of pathogenicity Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227634 rs_61748451

4 SubmittersRCV001132601RCV001132602RCV001132603RCV001474134RCV000086010

NM_000554.6(CRX):c.597C>T (p.Ser199=) SNV
Germline
Chr19:47839664 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 2
Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Leber congenital amaurosis 7
CRX-related disorder
Criteria Provided
Conflicting Classifications
CA227639 rs_61748455

4 SubmittersRCV000086014RCV000277021RCV000368298RCV000311321RCV001080501RCV003905083

NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) SNV
Germline
Chr6:35500010 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227705 rs_62636511

6 SubmittersRCV000086069RCV001542663RCV004689604RCV004794360

NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr) SNV
Germline
Chr6:35499990 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa
Leber congenital amaurosis 15
TULP1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227706 rs_141980901

9 SubmittersRCV000591717RCV001156199RCV001156200RCV004734646RCV000086070

NM_003322.6(TULP1):c.1495+1G>A SNV
Germline
Chr6:35499980 Pathogenic Condition: not provided
Leber congenital amaurosis 15
Retinitis pigmentosa 14
Autosomal recessive retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227708 rs_281865168

8 SubmittersRCV000086071RCV000454167RCV000454250RCV001257785RCV001075035

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
Leber congenital amaurosis 15
Retinitis pigmentosa 14
Criteria Provided
Multiple Submitters
No Conflicts
CA227709 rs_281865171

11 SubmittersRCV000086072RCV000787923RCV001073440RCV001376339RCV002228330RCV002483168

NM_003322.6(TULP1):c.99+1G>A SNV
Germline
Chr6:35512638 Pathogenic/Likely pathogenic Condition: not provided
Leber congenital amaurosis 15
Retinitis pigmentosa 14
Criteria Provided
Multiple Submitters
No Conflicts
CA227719 rs_281865166

5 SubmittersRCV000086081RCV001255922RCV001376338

NM_004183.4(BEST1):c.637-6C>T SNV
Germline
Chr11:61957381 Conflicting classifications of pathogenicity Vitelliform macular dystrophy 2
Autosomal dominant vitreoretinochoroidopathy
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227791 rs_62639356

8 SubmittersRCV000265298RCV000320452RCV000378739RCV004815150RCV000086147

NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) SNV
Germline
Chr11:61957402 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive bestrophinopathy
Vitelliform macular dystrophy 2
Autosomal dominant vitreoretinochoroidopathy
Retinitis pigmentosa 50
Vitelliform macular dystrophy 2
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA227795 rs_281865238

8 SubmittersRCV000086150RCV000763263RCV000787543RCV001073491

NM_014336.5(AIPL1):c.234C>T (p.Ser78=) SNV
Germline
Chr17:6433961 Conflicting classifications of pathogenicity not specified
Leber congenital amaurosis 4
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227868 rs_62635774

4 SubmittersRCV000363858RCV001078533RCV001125502RCV000086214

NM_014336.5(AIPL1):c.765T>C (p.Asp255=) SNV
Germline
Chr17:6426634 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227893 rs_62637018

3 SubmittersRCV000263430RCV000353479RCV001085755RCV000086232

NM_014336.5(AIPL1):c.97-9G>A SNV
Germline
Chr17:6434107 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Dominant
Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227901 rs_140124986

5 SubmittersRCV000360989RCV000303893RCV001080115RCV001699204RCV000086237

NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) SNV
Germline
Chr12:88083077 Pathogenic/Likely pathogenic Condition: not provided
CEP290-related disorder
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Senior-Loken syndrome 6
Leber congenital amaurosis
Leber congenital amaurosis 10
Retinitis pigmentosa
CEP290-related ciliopathy
Bardet-Biedl syndrome 14
Criteria Provided
Multiple Submitters
No Conflicts
CA227975 rs_62638179

9 SubmittersRCV000086294RCV000263885RCV000637002RCV001335142RCV001276492RCV002227445RCV001723671RCV004593991RCV003467014

NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) SNV
Germline
Chr1:197356990 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 12
Retinal dystrophy
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
CA227987 rs_62645754

8 SubmittersRCV000086304RCV003453010RCV004815175RCV001002989RCV001857423RCV001250593RCV003453011RCV002498468

NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter) SNV
Germline
Chr1:197421036 Pathogenic Condition: not provided
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
CA227988 rs_62645746

3 SubmittersRCV000086305RCV003474690RCV003764799

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA227991 rs_62636282

5 SubmittersRCV000086307RCV000310950RCV000274599RCV000370258RCV001080606RCV003888496

NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) SNV
Germline
Chr1:197421266 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
CA227993 rs_62636264

8 SubmittersRCV000086308RCV001376374RCV000797320RCV001826777RCV003453013RCV003235040RCV003453012

NM_201253.3(CRB1):c.1647T>C (p.Asn549=) SNV
Germline
Chr1:197421475 Conflicting classifications of pathogenicity Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Criteria Provided
Conflicting Classifications
CA227996 rs_62636283

5 SubmittersRCV000324209RCV000283110RCV000378808RCV001084432RCV000086310

NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) SNV
Germline
Chr1:197421870 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
CA228000 rs_62636266

8 SubmittersRCV000086312RCV004815176RCV001046839RCV001831900RCV003453015RCV003453016

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 SubmittersRCV000086313RCV001250598RCV003764800

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 SubmittersRCV000086314RCV001250657RCV001380408RCV003453017

NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) SNV
Germline
Chr1:197427880 Pathogenic/Likely pathogenic Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA228013 rs_62636271

6 SubmittersRCV000086323RCV000529725RCV001250658RCV001002996RCV004815177

NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) SNV
Germline
Chr1:197429453 Conflicting classifications of pathogenicity Leber congenital amaurosis 8
Condition: not provided
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
CRB1-related disorder
Optic atrophy
Criteria Provided
Conflicting Classifications
CA228017 rs_62636290

8 SubmittersRCV001526761RCV000086327RCV000763788RCV001826778RCV001239396RCV001563888RCV004529904RCV004815178

NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) SNV
Germline
Chr1:197429460 Pathogenic Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Macular dystrophy
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 SubmittersRCV000086328RCV000542027RCV000505142RCV001074017RCV001250608RCV001275654RCV001376474RCV001723672RCV003453019

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 SubmittersRCV000086339RCV001857424RCV002247492RCV003453026RCV003453027

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 SubmittersRCV000086342RCV001075774RCV001250617RCV001378740RCV003453029RCV003453028

NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg) SNV
Germline
Chr1:197435183 Pathogenic Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Criteria Provided
Single Submitter
CA228037 rs_62636276

3 SubmittersRCV000086343RCV002514529RCV001250629

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 SubmittersRCV000086344RCV002514530

NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter) SNV
Germline
Chr1:197442166 Pathogenic Condition: not provided
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA228044 rs_281865174

5 SubmittersRCV000086348RCV001250619RCV001857425RCV004794361

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
Leber congenital amaurosis
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
CA228050 rs_62636262

4 SubmittersRCV000086355RCV001242505RCV001826780RCV001588920

NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) SNV
Germline
Chr1:197328965 Conflicting classifications of pathogenicity Condition: not provided
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 1
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Intellectual disability
Leber congenital amaurosis
Criteria Provided
Conflicting Classifications
CA228054 rs_62645749

10 SubmittersRCV000086360RCV000382919RCV000288080RCV000986485RCV000787825RCV001080600RCV001251962RCV001271893

NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) SNV
Germline
Chr5:149896430 Conflicting classifications of pathogenicity Retinitis pigmentosa 43
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA228873 rs_61733362

5 SubmittersRCV001002090RCV001157994RCV000086933

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 SubmittersRCV000086934RCV000264899

NM_006343.3(MERTK):c.878G>A (p.Arg293His) SNV
Germline
Chr2:111968170 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA228917 rs_34072093

5 SubmittersRCV001131835RCV003888502RCV000086965

NM_144596.4(TTC8):c.625-5C>T SNV
Germline
Chr14:88852966 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa
Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Condition: not provided
Criteria Provided
Conflicting Classifications
CA331786 rs_137853922

10 SubmittersRCV000253567RCV000787922RCV001079560RCV001121196RCV000087004

NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) SNV
Germline
Chr1:197328450 Conflicting classifications of pathogenicity Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Conflicting Classifications
CA228954 rs_59691602

4 SubmittersRCV000087005RCV000346080RCV000309890RCV000391581RCV001082725

NM_206933.4(USH2A):c.14792-2A>G SNV
Germline
Chr1:215640736 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Retinal dystrophy
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA228956 rs_137853923

8 SubmittersRCV000087007RCV001376202RCV002469009RCV001074825RCV003445508

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
Retinal dystrophy
Retinitis pigmentosa
KIZ-related disorder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA151548 rs_202210819

11 SubmittersRCV000116208RCV001073648RCV001003070RCV003390800RCV000760516

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 SubmittersRCV000116209RCV001854564

NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) SNV
Germline
Chr1:216200031 Pathogenic Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Cone-rod dystrophy
Usher syndrome
Condition: not provided
Reviewed By Expert Panel
CA269917 rs_483353055

7 SubmittersRCV000119824RCV000675179RCV000787729RCV001089677RCV001231408

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 SubmittersRCV000119825RCV000444053RCV003453052

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 SubmittersRCV000123437RCV000277374RCV000291533RCV000332468RCV000382403RCV001075760RCV001098162RCV001494980

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
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Condition: not provided
ABCA4-related disorder
Criteria Provided
Conflicting Classifications
CA289219 rs_147884766

6 SubmittersRCV000123439RCV000266131RCV000310721RCV000406941RCV000365294RCV000726042RCV001101850

NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) SNV
Germline
Chr6:64307042 Conflicting classifications of pathogenicity not specified
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA202471 rs_201580493

10 SubmittersRCV000177451RCV000882506RCV001003019RCV001292621RCV004815193

NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) SNV
Germline
Chr5:149903675 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 43
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA292705 rs_142259966

6 SubmittersRCV000345398RCV001001850RCV001152527RCV000127384

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 SubmittersRCV000127389RCV000313689RCV000395859RCV000971875

NM_001244926.2(PRPF4):c.941C>T (p.Pro314Leu) SNV
Germline
Chr9:113288183 Likely pathogenic Retinitis pigmentosa 70
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA170079 rs_587777599

3 SubmittersRCV000132564RCV004815198RCV001268585

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 SubmittersRCV000132574RCV001857472RCV003888537

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 SubmittersRCV000132575RCV001857473RCV002250571RCV003888538

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 SubmittersRCV000132577RCV003888539

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 SubmittersRCV000132578RCV001074625RCV001388979RCV001530286

NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) SNV
Germline
Chr6:42721836 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Stargardt disease
PRPH2-related disorder
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA270015 rs_527236098

11 SubmittersRCV000132579RCV000438661RCV001250331RCV001055454RCV001073378

NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) SNV
Germline
Chr1:94005469 Pathogenic/Likely pathogenic Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA232815 rs_148460146

12 SubmittersRCV000132592RCV000986347RCV001073482RCV001542554RCV004732701RCV004796034

NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) SNV
Germline
Chr3:129528913 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 4
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA270021 rs_527236101

4 SubmittersRCV000132596RCV001007975RCV001265175RCV004815199

NM_000539.3(RHO):c.520G>A (p.Gly174Ser) SNV
Germline
Chr3:129531034 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA270023 rs_527236103

4 SubmittersRCV000132599RCV003556175RCV003888543

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 SubmittersRCV000132600RCV001384606RCV003888544

NM_000541.5(SAG):c.250C>T (p.Arg84Cys) SNV
Germline
Chr2:233320698 Conflicting classifications of pathogenicity Condition: not provided
not specified
Oguchi disease
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA232819 rs_115857633

5 SubmittersRCV000132603RCV000365394RCV001137319RCV001137320RCV003888546

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 SubmittersRCV000132604RCV003888547

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 SubmittersRCV000132616RCV000678599RCV001060810RCV003888552

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 SubmittersRCV000132622RCV001849952RCV003462050

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
EYS-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA232827 rs_150951106

6 SubmittersRCV000132623RCV000666256RCV001159868RCV003905240RCV003888553

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
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25
Criteria Provided
Multiple Submitters
No Conflicts
CA270059 rs_527236068

6 SubmittersRCV000132629RCV001075666RCV001062126RCV001826794

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 SubmittersRCV000132633RCV000678571RCV001059640RCV001074415

NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) SNV
Germline
Chr6:63762520 Pathogenic Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
EYS-related disorder
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA270067 rs_527236076

6 SubmittersRCV000132634RCV001212734RCV001826795RCV003905241RCV003888557

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
EYS-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA270070 rs_527236067

11 SubmittersRCV000132636RCV000803751RCV001074003RCV001808400RCV004751283

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 SubmittersRCV000132637RCV000938878RCV003330509RCV003888558

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 SubmittersRCV000132645RCV001315049RCV003888560

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 SubmittersRCV000132646RCV001207756RCV002250572

NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) SNV
Germline
Chr6:35511648 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 14
Criteria Provided
Conflicting Classifications
CA270083 rs_527236117

4 SubmittersRCV000132650RCV001378479RCV001376329

NM_004183.4(BEST1):c.763C>T (p.Arg255Trp) SNV
Germline
Chr11:61958194 Pathogenic Retinitis pigmentosa
Condition: not provided
Autosomal recessive bestrophinopathy
Retinitis pigmentosa 50
Vitelliform macular dystrophy 2
Autosomal dominant vitreoretinochoroidopathy
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA270085 rs_372989281

4 SubmittersRCV000132651RCV001781480RCV002478405RCV003888561

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 SubmittersRCV000132653RCV003556177

NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) SNV
Germline
Chr8:54625068 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 1
RP1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA270091 rs_201493928

11 SubmittersRCV000132658RCV001064832RCV001075254RCV001376316RCV004754308

NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) SNV
Germline
Chr8:54629679 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 1
not specified
Retinal dystrophy
RP1-related disorder
Criteria Provided
Conflicting Classifications
CA270095 rs_118031911

8 SubmittersRCV000132661RCV001035254RCV002250573RCV000825444RCV003888563RCV004754309

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 SubmittersRCV000132663RCV000662015RCV002515922

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 SubmittersRCV000132668RCV000225495

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

6 SubmittersRCV000132669RCV001073690RCV001206818RCV001376490

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 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Enhanced S-cone syndrome
Retinitis pigmentosa 37
Retinal dystrophy
Enhanced S-cone syndrome
NR2E3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA270110 rs_527236086

8 SubmittersRCV000132672RCV001205439RCV000670387RCV001075734RCV001831925RCV004532584

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 SubmittersRCV000132674RCV002514758

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
Vitelliform macular dystrophy 5
Condition: not provided
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA270121 rs_199867882

13 SubmittersRCV000132676RCV001270127RCV000585301RCV001074065RCV001257827

NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) SNV
Germline
Chr8:86632864 Conflicting classifications of pathogenicity Condition: not provided
Achromatopsia
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Achromatopsia 3
not specified
Abnormality of the eye
Criteria Provided
Conflicting Classifications
CA232853 rs_147876778

15 SubmittersRCV000132679RCV000597492RCV000678546RCV001164460RCV004815202RCV000174144RCV000435881RCV000501136

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 SubmittersRCV000132695RCV001074141

NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) SNV
Germline
Chr1:197421404 Pathogenic/Likely pathogenic Leber congenital amaurosis 8
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA170083 rs_114342808

12 SubmittersRCV000132698RCV001002990RCV000792250RCV003453098RCV003453099RCV000179572RCV001073589

NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) SNV
Germline
Chr1:215759735 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
USH2A-related disorder
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA270135 rs_527236139

21 SubmittersRCV000132701RCV000678643RCV000413588RCV001074730RCV004732702RCV000504711RCV000665160RCV003226212

NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) SNV
Germline
Chr1:215674901 Pathogenic/Likely pathogenic Usher syndrome type 2A
Condition: not provided
Rare genetic deafness
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA270139 rs_527236137

13 SubmittersRCV000132703RCV001043740RCV000824779RCV001073283RCV003324517RCV000983996

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 SubmittersRCV000132704RCV001073355

NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val) SNV
Germline
Chr1:215671258 Pathogenic/Likely pathogenic Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA270143 rs_527236124

7 SubmittersRCV000132705RCV001075191RCV002514759RCV003453100RCV004525879

NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) SNV
Germline
Chr1:215650692 Pathogenic Retinitis pigmentosa
Leber congenital amaurosis
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA270145 rs_527236126

6 SubmittersRCV000132706RCV000144482RCV000675147RCV002514760RCV003462051RCV003888572

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
Retinitis pigmentosa 39
Usher syndrome
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA270149 rs_527236122

9 SubmittersRCV000132708RCV000490337RCV003462052RCV004767086RCV001221094RCV003888573

NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) SNV
Germline
Chr1:216246592 Pathogenic/Likely pathogenic Condition: not provided
Usher syndrome type 2
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA270152 rs_201527662

23 SubmittersRCV000595137RCV001003277RCV000576637RCV001074347RCV000986542RCV002469023RCV000132710RCV004796037

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 SubmittersRCV000132713RCV001075672RCV001227152RCV003453101

NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter) SNV
Germline
Chr1:216000489 Pathogenic Retinitis pigmentosa
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA270159 rs_55958016

4 SubmittersRCV000132714RCV003462053RCV003556178RCV003888574

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 SubmittersRCV000132717RCV003237744

NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) SNV
Germline
Chr6:135433119 Pathogenic/Likely pathogenic Joubert syndrome 3
Retinitis pigmentosa
Leber congenital amaurosis
Condition: not provided
Familial aplasia of the vermis
Criteria Provided
Multiple Submitters
No Conflicts
CA270780 rs_587783013

10 SubmittersRCV000144464RCV000678521RCV001262092RCV001698972RCV003495112

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 SubmittersRCV000144466RCV003764878

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 SubmittersRCV000144948RCV000497594RCV001249657RCV003155084

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 SubmittersRCV000148296RCV001320971

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 SubmittersRCV000148297RCV001302099

NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) SNV
Germline
Chr1:46194314 Conflicting classifications of pathogenicity not specified
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Inborn genetic diseases
Condition: not provided
POMGNT1-related disorder
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Criteria Provided
Conflicting Classifications
CA295419 rs_142485035

10 SubmittersRCV000150000RCV000763935RCV001083649RCV002514874RCV000725700RCV004732704RCV001333960

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
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA295425 rs_375420073

4 SubmittersRCV000648197RCV000763937RCV001272275RCV003129788

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 SubmittersRCV000152564RCV000668395

NM_206933.4(USH2A):c.5858-12A>G SNV
Germline
Chr1:216070304 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Conflicting Classifications
CA179556 rs_727503727

3 SubmittersRCV000152609RCV000669695RCV002056017

NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) SNV
Germline
Chr1:216084853 Pathogenic not specified
Retinitis pigmentosa
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Retinal dystrophy
USH2A-related disorder
Reviewed By Expert Panel
CA185105 rs_727505116

10 SubmittersRCV000156571RCV000505112RCV000725477RCV001004787RCV003462063RCV003991016RCV004528894

NM_206933.4(USH2A):c.15581G>A (p.Arg5194His) SNV
Germline
Chr1:215625809 Conflicting classifications of pathogenicity not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
CA185216 rs_727505155

3 SubmittersRCV000156623RCV003311698RCV000668542

NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) SNV
Germline
Chr1:215640723 Pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Rare genetic deafness
Retinal dystrophy
Condition: not provided
USH2A-related disorder
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA273457 rs_146733615

10 SubmittersRCV000410556RCV000411616RCV000824777RCV001073844RCV001054211RCV004544405RCV002505168

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 SubmittersRCV000156228RCV001826849RCV002515013RCV003453191

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
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA182588 rs_146264950

13 SubmittersRCV000155322RCV000664687RCV001274938RCV001244553RCV001579277RCV004815242

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
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA185250 rs_727505166

5 SubmittersRCV000156642RCV000763828RCV001271141RCV003888605RCV002516341

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
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
CA183787 rs_727504654

9 SubmittersRCV000155917RCV000666703RCV001074861RCV001273698RCV001227049RCV001376534

NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val) SNV
Germline
Chr1:215838055 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Conflicting Classifications
CA179526 rs_143352618

4 SubmittersRCV000152585RCV000673073RCV001244965

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 SubmittersRCV000152588RCV000671038RCV001307268

NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) SNV
Germline
Chr1:216000490 Pathogenic/Likely pathogenic Rare genetic deafness
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA273288 rs_727503725

4 SubmittersRCV000152604RCV001376394RCV003688831RCV003453130

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 SubmittersRCV000152620RCV000288419RCV000403072RCV000905750

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 SubmittersRCV000152627RCV000918519RCV001097182RCV001097183

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 SubmittersRCV000152631RCV000881023RCV001100749RCV001100750

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 SubmittersRCV000155979RCV000666822RCV000943628

NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) SNV
Germline
Chr1:216327618 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
CA183997 rs_727504721

6 SubmittersRCV000156012RCV000673498RCV001731487RCV001831971RCV003462061

NM_206933.4(USH2A):c.486-13G>A SNV
Germline
Chr1:216418692 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA179592 rs_116367260

4 SubmittersRCV000152636RCV001097551RCV001520496RCV001097552

NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) SNV
Germline
Chr1:215675336 Conflicting classifications of pathogenicity Usher syndrome type 2A
Usher syndrome
USH2A-related disorder
Retinitis pigmentosa 39
not specified
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA179511 rs_199605265

21 SubmittersRCV001004143RCV003226215RCV004532711RCV000675140RCV000152569RCV000480057RCV000505125RCV001074420

NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) SNV
Germline
Chr1:215680168 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA185267 rs_727505170

5 SubmittersRCV000156650RCV000666738RCV001238988

NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln) SNV
Germline
Chr1:215728274 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA183417 rs_727504582

3 SubmittersRCV000155755RCV000671917RCV004700483

NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) SNV
Germline
Chr1:215743285 Pathogenic Rare genetic deafness
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA273676 rs_727505337

4 SubmittersRCV000156887RCV000787718RCV002515040RCV003453204

NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) SNV
Germline
Chr1:215998954 Conflicting classifications of pathogenicity Usher syndrome
not specified
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Conflicting Classifications
CA179546 rs_140487302

11 SubmittersRCV000504981RCV000152602RCV001826815RCV000669599RCV001240603

NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) SNV
Germline
Chr1:216190241 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
USH2A-related disorder
Criteria Provided
Conflicting Classifications
CA182604 rs_139311927

8 SubmittersRCV000155330RCV000765070RCV001381659RCV001376456RCV001276257RCV003479024RCV004732718

NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) SNV
Germline
Chr1:216199637 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA179570 rs_537863698

5 SubmittersRCV000152619RCV000295631RCV000389900RCV001207755RCV001075377

NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) SNV
Germline
Chr1:216200043 Conflicting classifications of pathogenicity not specified
Usher syndrome
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
USH2A-related disorder
Criteria Provided
Conflicting Classifications
CA179576 rs_34596189

10 SubmittersRCV000152625RCV000504687RCV000894588RCV001100644RCV001100645RCV004544387

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 SubmittersRCV000152630RCV001857523RCV003453141RCV003474803

NM_206933.4(USH2A):c.2001C>T (p.His667=) SNV
Germline
Chr1:216251069 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA182606 rs_142870255

9 SubmittersRCV000396635RCV000310998RCV000925735RCV000155331

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 SubmittersRCV000152632RCV000941463RCV001097357RCV001101111RCV003888580

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 SubmittersRCV000155770RCV000336096RCV000388226RCV000827304

NM_206933.4(USH2A):c.1143+12C>T SNV
Germline
Chr1:216325293 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Conflicting Classifications
CA185252 rs_727505167

4 SubmittersRCV000156643RCV000666853RCV002516342

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 SubmittersRCV000156272RCV003479025RCV003462062

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 SubmittersRCV000152638RCV000349749RCV000383355RCV001073743RCV001520246

NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) SNV
Germline
Chr5:90629537 Conflicting classifications of pathogenicity not specified
ADGRV1-related disorder
Condition: not provided
Usher syndrome type 2C
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA176188 rs_199587998

11 SubmittersRCV000150755RCV004551304RCV000725188RCV001152888RCV001589003

NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) SNV
Germline
Chr11:77199817 Conflicting classifications of pathogenicity Retinitis pigmentosa-deafness syndrome
not specified
Nonsyndromic Hearing Loss, Dominant
Condition: not provided
Hearing loss, autosomal recessive
Usher syndrome type 1B
Criteria Provided
Conflicting Classifications
CA182424 rs_372535399

5 SubmittersRCV000323066RCV000155236RCV000357884RCV000733015RCV004577727RCV001272800

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 SubmittersRCV000153227RCV000765693RCV001138008RCV001844052RCV003907444

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 SubmittersRCV000153209RCV000260927RCV000895790RCV004019833

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 SubmittersRCV000153362RCV000670920RCV001243388RCV001815238

NM_201253.3(CRB1):c.2291G>A (p.Arg764His) SNV
Germline
Chr1:197427616 Pathogenic/Likely pathogenic Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
CA233861 rs_375040930

7 SubmittersRCV000153110RCV001235069RCV001250605RCV001831949RCV002247550RCV004796048

NM_000541.5(SAG):c.301G>A (p.Ala101Thr) SNV
Germline
Chr2:233320749 Conflicting classifications of pathogenicity not specified
Oguchi disease
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA180410 rs_141521563

7 SubmittersRCV000153881RCV000299646RCV000394806RCV000425708RCV004815234

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 SubmittersRCV000153223RCV000955288RCV001140149

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 SubmittersRCV000153211RCV000382484RCV001073752RCV001274970

NM_201548.5(CERKL):c.589G>T (p.Ala197Ser) SNV
Germline
Chr2:181573777 Conflicting classifications of pathogenicity Retinitis pigmentosa 26
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA233690 rs_151110889

4 SubmittersRCV001279813RCV000152989RCV001142998

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 SubmittersRCV000154164RCV000765663RCV001140115

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 SubmittersRCV000153228RCV000330220RCV000954594RCV001526760

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 SubmittersRCV000153815RCV000206960RCV001105648

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

19 SubmittersRCV000153040RCV000504912RCV001073599RCV001257781RCV001331891RCV003907442

NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr) SNV
Germline
Chr1:197435029 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
CA233863 rs_727503889

3 SubmittersRCV000153112RCV001526715RCV001850090

NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu) SNV
Germline
Chr2:181539107 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA233684 rs_146913105

8 SubmittersRCV000383077RCV000152985RCV001073870RCV002516072

NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) SNV
Germline
Chr2:29071662 Conflicting classifications of pathogenicity Retinitis pigmentosa 54
not specified
Condition: not provided
Retinitis pigmentosa
PCARE-related disorder
Criteria Provided
Conflicting Classifications
CA233555 rs_182248363

7 SubmittersRCV000625234RCV000152890RCV000879053RCV001136691RCV003975196

NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) SNV
Germline
Chr5:149895206 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 43
PDE6A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA234508 rs_139444207

9 SubmittersRCV000153658RCV000292173RCV001376415RCV003416002

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 SubmittersRCV000153212RCV000584981RCV000625442RCV001164682RCV003888588RCV003965140

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

6 SubmittersRCV000153988RCV001049973RCV001120978RCV003888597

NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) SNV
Germline
Chr1:94021848 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Severe early-childhood-onset retinal dystrophy
Stargardt Disease, Recessive
Condition: not provided
Macular degeneration
Cone-Rod Dystrophy, Recessive
Cone dystrophy
Optic atrophy
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA233403 rs_113106943

9 SubmittersRCV000285181RCV000408525RCV000323858RCV000416254RCV000376503RCV000381856RCV000504993RCV004815221RCV001073617

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 SubmittersRCV000152891RCV001136695RCV003917488

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 SubmittersRCV000415943RCV001138253

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 SubmittersRCV000153034RCV001149737

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 SubmittersRCV000153109RCV000272435RCV000327584RCV000377522RCV000755993RCV001085035RCV001275648RCV001532866

NM_000283.4(PDE6B):c.1401+4C>T SNV
Germline
Chr4:657498 Conflicting classifications of pathogenicity not specified
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA180277 rs_113246945

5 SubmittersRCV000153665RCV001151135RCV001515674RCV001156613RCV004815230

NM_000283.4(PDE6B):c.2193+1G>A SNV
Germline
Chr4:664945 Pathogenic Retinitis pigmentosa
Retinitis pigmentosa 40
Condition: not provided
Retinal dystrophy
PDE6B-related disorder
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa 40
Criteria Provided
Multiple Submitters
No Conflicts
CA273358 rs_727504075

14 SubmittersRCV000216602RCV000153667RCV000723948RCV001073971RCV003387510RCV002498731

NM_006017.3(PROM1):c.1497C>T (p.Ile499=) SNV
Germline
Chr4:16000577 Conflicting classifications of pathogenicity not specified
Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA180342 rs_113895168

8 SubmittersRCV000153771RCV001144801RCV001150902RCV001150903RCV001150904RCV000757689RCV004815231

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 SubmittersRCV000153836RCV000362368RCV000954958

NM_001012720.2(RGR):c.744+5A>G SNV
Germline
Chr10:84258011 Conflicting classifications of pathogenicity not specified
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
RGR-related disorder
Retinitis pigmentosa 44
Criteria Provided
Conflicting Classifications
CA180391 rs_143720091

9 SubmittersRCV000153837RCV000963256RCV000375563RCV004815232RCV003917508RCV001001658

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 SubmittersRCV000153846RCV001002259RCV001158394RCV001698978

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 SubmittersRCV000153884RCV000270034RCV000325042RCV004532736

NM_000310.4(PPT1):c.541G>A (p.Val181Met) SNV
Germline
Chr1:40080483 Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA274047 rs_148412181

11 SubmittersRCV000169209RCV001723740RCV002259317RCV002345567

NM_019098.5(CNGB3):c.644-1G>C SNV
Germline
Chr8:86667134 Pathogenic/Likely pathogenic Achromatopsia 3
Condition: not provided
Achromatopsia
Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
CNGB3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA273948 rs_201794629

9 SubmittersRCV000169108RCV000814009RCV001002980RCV001535671RCV004732735

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

16 SubmittersRCV000169660RCV000177524RCV001075403RCV001723741RCV001376308RCV003895170

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 SubmittersRCV000171156RCV001257843

NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg) SNV
Germline
Chr1:197421008 Pathogenic Condition: not provided
Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
CA235768 rs_786205450

3 SubmittersRCV000171163RCV001257859RCV003765070RCV004527365

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 SubmittersRCV000171164RCV001563787RCV001563788

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 SubmittersRCV000171224RCV001120376

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

8 SubmittersRCV000171226RCV001003226RCV001257831RCV001852064

NM_014249.4(NR2E3):c.119-2A>C SNV
Germline
Chr15:71811481 Pathogenic/Likely pathogenic Enhanced S-cone syndrome
Condition: not provided
Retinitis pigmentosa 37
NR2E3-related disorder
Retinal dystrophy
not specified
Retinal dystrophy
Visual impairment
Horizontal nystagmus
Color vision defect
Cone-rod dystrophy
Retinitis pigmentosa 37
Enhanced S-cone syndrome
Retinitis pigmentosa
Goldmann-Favre syndrome
Ocular albinism
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA235931 rs_2723341

34 SubmittersRCV000005864RCV000171236RCV000185571RCV000261643RCV000505031RCV000507553RCV000626919RCV000678584RCV000668212RCV000787627RCV001275369RCV002243841RCV002515235

NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter) SNV
Germline
Chr15:71811978 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 37
Retinal dystrophy
Enhanced S-cone syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA235932 rs_786205493

5 SubmittersRCV000171237RCV001376479RCV004815268RCV003468851

NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) SNV
Germline
Chr15:71812410 Likely pathogenic Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Enhanced S-cone syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA235935 rs_368098126

5 SubmittersRCV000171238RCV000787632RCV001074909RCV003468852

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
Single Submitter
CA235938 rs_761628767

2 SubmittersRCV000171239RCV001029779RCV003989478

NM_000554.6(CRX):c.274G>A (p.Ala92Thr) SNV
Germline
Chr19:47839341 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Autosomal dominant retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA236030 rs_786205521

3 SubmittersRCV000171286RCV001342675RCV001257853

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 SubmittersRCV000171298RCV001257804RCV003888607

NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) SNV
Germline
Chr2:111929383 Pathogenic Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 38
Criteria Provided
Single Submitter
CA236067 rs_786205533

2 SubmittersRCV000171303RCV001257798RCV003987405

NM_006343.3(MERTK):c.1604+2T>G SNV
Germline
Chr2:111997478 Pathogenic Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 38
Criteria Provided
Single Submitter
CA236069 rs_786205534

2 SubmittersRCV000171304RCV001257900RCV003987406

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
Single Submitter
CA236070 rs_786205535

2 SubmittersRCV000171305RCV001257796RCV003987407

NM_201548.5(CERKL):c.812T>C (p.Ile271Thr) SNV
Germline
Chr2:181558574 Likely pathogenic Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 26
Criteria Provided
Single Submitter
CA236112 rs_786205545

2 SubmittersRCV000171327RCV001257877RCV003987408

NM_001278293.3(ARL6):c.362G>A (p.Arg121His) SNV
Germline
Chr3:97788002 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa
Retinitis pigmentosa 55
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome
Criteria Provided
Conflicting Classifications
CA280069 rs_765715798

6 SubmittersRCV000171364RCV001257839RCV002485089RCV001852067RCV002469042

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 SubmittersRCV000171365RCV000987301RCV000958677

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

4 SubmittersRCV000171366RCV001003055RCV001257825RCV003987409

NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) SNV
Germline
Chr3:101291499 Pathogenic Condition: not provided
Vitelliform macular dystrophy 5
Autosomal recessive retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA236196 rs_763295314

4 SubmittersRCV000171367RCV000678577RCV001257828

NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) SNV
Germline
Chr4:16025218 Conflicting classifications of pathogenicity Condition: not provided
Retinal macular dystrophy type 2
Retinitis pigmentosa 41
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Cone-rod dystrophy 12
Stargardt disease 4
Retinal macular dystrophy type 2
Retinitis pigmentosa 41
Stargardt disease 4
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA236211 rs_140872693

10 SubmittersRCV000171375RCV000348573RCV000987426RCV000390528RCV001257791RCV000765766RCV000356757RCV004815269

NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) SNV
Germline
Chr6:35503626 Conflicting classifications of pathogenicity Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis 15
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA236254 rs_770045008

7 SubmittersRCV001257784RCV000171394RCV004796064RCV003888608

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 SubmittersRCV000171435RCV001003180RCV001257801

NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr) SNV
Germline
Chr1:197429555 Pathogenic/Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA279259 rs_863223341

2 SubmittersRCV003474924RCV000201433

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
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA279322 rs_863223339

3 SubmittersRCV000201503RCV001268564RCV004815272

NM_006269.2(RP1):c.679T>G (p.Phe227Val) SNV
Germline
Chr8:54622180 Pathogenic Retinitis pigmentosa Criteria Provided
Single Submitter
CA279284 rs_863223340

1 SubmittersRCV000201456

NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu) SNV
Germline
Chr16:1520177 Pathogenic/Likely pathogenic Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA277670 rs_779007169

2 SubmittersRCV000201484RCV004816249

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 Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Criteria Provided
Single Submitter
CA199770 rs_786205855

2 SubmittersRCV002508142RCV003765075

NM_015662.3(IFT172):c.1525-1G>A SNV
Germline
Chr2:27471096 Pathogenic/Likely pathogenic 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
Bardet-Biedl syndrome 20
IFT172-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA199772 rs_370540673

4 SubmittersRCV002492710RCV002515241RCV004562395RCV004737264

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
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 40
PDE6B-related disorder
Criteria Provided
Conflicting Classifications
CA238578 rs_555600300

8 SubmittersRCV000173097RCV004816251RCV000779449RCV001376247RCV004535181

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 SubmittersRCV000173098RCV000337389RCV000398223RCV001518969

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 SubmittersRCV000724496RCV001103768RCV003888610

NM_000327.4(ROM1):c.81G>T (p.Leu27=) SNV
Germline
Chr11:62613362 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA238593 rs_148196509

6 SubmittersRCV000368177RCV000173111RCV001729426

NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) SNV
Germline
Chr5:149944370 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 43
PDE6A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA238610 rs_141252097

19 SubmittersRCV000173136RCV001073620RCV000407624RCV001257852RCV001376501RCV004739555

NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) SNV
Germline
Chr2:29071204 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA238639 rs_201355503

5 SubmittersRCV000314136RCV000173180

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 SubmittersRCV000173181RCV001141416

NM_001029883.3(PCARE):c.537T>C (p.Pro179=) SNV
Germline
Chr2:29073725 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA238642 rs_201965800

3 SubmittersRCV000385575RCV000173182

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 SubmittersRCV000173185RCV000894308RCV001138830

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 SubmittersRCV000173186RCV000905069RCV001138832

NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) SNV
Germline
Chr2:29072199 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 54
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA200359 rs_149601594

6 SubmittersRCV000173192RCV001283146RCV000224337RCV001138933

NM_002900.3(RBP3):c.1514A>T (p.His505Leu) SNV
Germline
Chr10:47349998 Conflicting classifications of pathogenicity Retinitis pigmentosa 66
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA238754 rs_201808774

4 SubmittersRCV000206920RCV000173289RCV001107413

NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu) SNV
Germline
Chr10:47350652 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 66
Retinitis pigmentosa
Condition: not provided
RBP3-related disorder
Criteria Provided
Conflicting Classifications
CA200435 rs_148247227

5 SubmittersRCV000173291RCV000206940RCV001103698RCV000966383RCV003927582

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
Retinal dystrophy
CDHR1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA238994 rs_794726954

7 SubmittersRCV000173546RCV001589051RCV001723745RCV004816255RCV004748622

NM_201548.5(CERKL):c.27G>A (p.Arg9=) SNV
Germline
Chr2:181656980 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
not specified
CERKL-related disorder
Retinitis pigmentosa 26
Criteria Provided
Conflicting Classifications
CA239053 rs_368855330

8 SubmittersRCV000173594RCV001138677RCV001699051RCV003917605RCV001271353

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 SubmittersRCV000173595RCV000322879RCV000625305RCV000953183

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 SubmittersRCV000173596RCV000334479

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 SubmittersRCV000173736RCV000371837RCV000755238

NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg) SNV
Germline
ChrX:38297350 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia
Retinitis pigmentosa 3
X-linked cone-rod dystrophy 1
Criteria Provided
Conflicting Classifications
CA239469 rs_794727019

3 SubmittersRCV000173995RCV001360742RCV001353107

NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) SNV
Germline
Chr7:128396989 Conflicting classifications of pathogenicity not specified
Leber congenital amaurosis 11
Retinitis pigmentosa
Leber congenital amaurosis 11
Retinitis pigmentosa 10
Condition: not provided
IMPDH1-related disorder
Criteria Provided
Conflicting Classifications
CA239483 rs_72624961

5 SubmittersRCV000174020RCV000281510RCV000322287RCV000765929RCV000877998RCV004535194

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
PROM1-related disorder
Stargardt disease 4
Cone-rod dystrophy 12
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa 41
Criteria Provided
Conflicting Classifications
CA239871 rs_200620291

7 SubmittersRCV000724359RCV001147668RCV001147667RCV004539610RCV001151003RCV001147666RCV001535742

NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp) SNV
Germline
Chr4:662204 Pathogenic Condition: not provided
Retinitis pigmentosa 40
Criteria Provided
Single Submitter
CA240006 rs_774268095

3 SubmittersRCV000174465RCV001376288

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 SubmittersRCV000174505RCV001199681RCV003468854

NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) SNV
Germline
Chr16:57950537 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
CNGB1-related disorder
Optic atrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA240054 rs_146170855

7 SubmittersRCV000320799RCV000723993RCV004757970RCV004816261RCV004975306

NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met) SNV
Germline
Chr17:6470345 Conflicting classifications of pathogenicity Cone-rod dystrophy 5
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA240158 rs_139119218

4 SubmittersRCV000297049RCV000787862RCV000174604

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
not specified
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA240287 rs_201652272

13 SubmittersRCV000174710RCV000342934RCV000678566RCV001844068RCV001073420

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 SubmittersRCV000174711RCV001075263RCV001723749RCV001826878

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 SubmittersRCV000174716RCV000267725RCV000625227RCV000762391

NM_000440.3(PDE6A):c.1926+1G>A SNV
Germline
Chr5:149884779 Pathogenic Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 43
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA275023 rs_794727139

6 SubmittersRCV000174847RCV001199499RCV001376192RCV004816264

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
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA240556 rs_373111085

4 SubmittersRCV000174924RCV001234939RCV002478565RCV004752773

NM_206933.4(USH2A):c.3489C>T (p.Asp1163=) SNV
Germline
Chr1:216199949 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Criteria Provided
Conflicting Classifications
CA240980 rs_139156019

3 SubmittersRCV000175255RCV001100642RCV001100643

NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) SNV
Germline
Chr6:64902146 Conflicting classifications of pathogenicity Retinitis pigmentosa 25
Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa
EYS-related disorder
Criteria Provided
Conflicting Classifications
CA241009 rs_367857088

7 SubmittersRCV000665715RCV001278511RCV000175284RCV001161279RCV003917623

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 SubmittersRCV000175289RCV000384870RCV000755932RCV003103741

NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) SNV
Germline
Chr6:64886718 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Retinal dystrophy
not specified
Optic atrophy
Criteria Provided
Conflicting Classifications
CA241169 rs_201819948

9 SubmittersRCV000175412RCV001161276RCV000625444RCV004816269RCV001844069RCV004816270

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 SubmittersRCV000175453RCV001001374RCV001132911RCV003895187

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 SubmittersRCV000175739RCV000206994RCV003947489

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 SubmittersRCV000175819RCV001376429

NM_006269.2(RP1):c.515T>G (p.Leu172Arg) SNV
Germline
Chr8:54621481 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA241609 rs_180729424

5 SubmittersRCV000302193RCV000504802RCV000175822

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 SubmittersRCV000175872RCV001132611RCV003888627RCV003927613

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 SubmittersRCV000245672RCV000305936RCV000360557RCV000723749RCV001097418

NM_201253.3(CRB1):c.600A>G (p.Thr200=) SNV
Germline
Chr1:197328951 Conflicting classifications of pathogenicity not specified
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Leber congenital amaurosis
Criteria Provided
Conflicting Classifications
CA201752 rs_77713666

7 SubmittersRCV000176012RCV000386258RCV000277900RCV000331649RCV000878480RCV001727616RCV001832005

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 SubmittersRCV000176031RCV000259243RCV000314427

NM_014714.4(IFT140):c.2551G>A (p.Val851Met) SNV
Germline
Chr16:1526645 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA241953 rs_754753583

4 SubmittersRCV000176094RCV001039003RCV002492757RCV003955044

NM_001142800.2(EYS):c.3443+1G>T SNV
Germline
Chr6:64813377 Pathogenic/Likely pathogenic Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
EYS-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA275110 rs_373441420

11 SubmittersRCV000176281RCV000724528RCV001074850RCV001274886RCV003398889

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 SubmittersRCV000176282RCV000673072RCV001075858RCV001277985RCV003422070

NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) SNV
Germline
Chr16:57916137 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
CNGB1-related disorder
Criteria Provided
Conflicting Classifications
CA242185 rs_192843629

9 SubmittersRCV000291964RCV000724483RCV001074215RCV004757973

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 SubmittersRCV000176539RCV000625378RCV001121741RCV001699221RCV003927631

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 SubmittersRCV000176624RCV000504628RCV000665978RCV000963176

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 SubmittersRCV000176626RCV001272882RCV002250587

NM_000329.3(RPE65):c.168A>G (p.Pro56=) SNV
Germline
Chr1:68446787 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA243145 rs_150260489

3 SubmittersRCV000177043RCV001088492RCV004816282

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
RHO-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA275168 rs_775557680

14 SubmittersRCV000177081RCV000504731RCV000724301RCV001074893RCV004755791

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 SubmittersRCV000177243RCV001167023

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 SubmittersRCV000177244RCV001168731

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 SubmittersRCV000416163RCV001140881

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 SubmittersRCV000177404RCV001140878

NM_144596.4(TTC8):c.267C>A (p.Arg89=) SNV
Germline
Chr14:88840866 Conflicting classifications of pathogenicity Condition: not provided
not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Retinitis pigmentosa
TTC8-related disorder
Criteria Provided
Conflicting Classifications
CA243607 rs_200113889

6 SubmittersRCV000177429RCV001001279RCV001078936RCV001117607RCV001117606RCV003907599

NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) SNV
Germline
Chr14:88840883 Conflicting classifications of pathogenicity not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA202465 rs_150880478

10 SubmittersRCV000177430RCV000559336RCV001119197RCV001117608RCV001706134

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 SubmittersRCV000177528RCV000281889RCV002054094

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 SubmittersRCV000177529RCV000761936RCV000989610RCV002517713RCV003937605

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 SubmittersRCV000177748RCV000298004RCV001699055RCV003888632

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 SubmittersRCV000177821RCV001002426RCV001075614RCV001826903RCV003454452

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 SubmittersRCV000178068RCV000288799RCV000346036

NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) SNV
Germline
Chr15:89218677 Conflicting classifications of pathogenicity not specified
Pigmentary retinal dystrophy
Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA202707 rs_77384282

3 SubmittersRCV000178076RCV000280535RCV000386660RCV000329645RCV000896034

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 SubmittersRCV000178133RCV000348403RCV000395095

NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) SNV
Germline
Chr6:65494921 Pathogenic Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA275249 rs_794727631

10 SubmittersRCV000178152RCV000505178RCV000763560RCV004816290

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 SubmittersRCV000178261RCV001165450RCV003133163

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 SubmittersRCV000178264RCV000370926

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 SubmittersRCV000178266RCV001163234RCV001356977RCV003895200

NM_206933.4(USH2A):c.7595-3C>G SNV
Germline
Chr1:215889057 Pathogenic/Likely pathogenic Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
USH2A-related disorder
Usher syndrome
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA275270 rs_201657446

13 SubmittersRCV000178475RCV000669197RCV001075871RCV003445607RCV004537466RCV000504696RCV001542728

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 SubmittersRCV000178505RCV000383166RCV003947520

NM_206933.4(USH2A):c.8682-9A>G SNV
Germline
Chr1:215867179 Pathogenic Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
USH2A-related disorder
Usher syndrome
Retinitis pigmentosa
Reviewed By Expert Panel
CA275277 rs_372347027

15 SubmittersRCV000255827RCV000666303RCV001074617RCV001842795RCV004537468RCV000710348RCV001723753

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 SubmittersRCV000178746RCV000276359RCV000331462RCV001699056

NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) SNV
Germline
Chr5:149921690 Conflicting classifications of pathogenicity not specified
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA203011 rs_114973968

11 SubmittersRCV000178770RCV000954915RCV000787859RCV003888635

NM_004698.4(PRPF3):c.501A>G (p.Thr167=) SNV
Germline
Chr1:150332761 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
PRPF3-related disorder
Criteria Provided
Conflicting Classifications
CA246087 rs_146995242

4 SubmittersRCV000178895RCV001100608RCV004758664

NM_152443.3(RDH12):c.195A>C (p.Arg65=) SNV
Germline
Chr14:67725106 Conflicting classifications of pathogenicity Condition: not provided
Leber congenital amaurosis 13
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA246260 rs_771614823

3 SubmittersRCV000179017RCV001430505RCV001109344

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 SubmittersRCV000179018RCV001088243RCV001109346RCV001275428

NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) SNV
Germline
Chr1:215790168 Pathogenic/Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
USH2A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA275315 rs_148660051

27 SubmittersRCV000179099RCV000190637RCV001073681RCV000505000RCV000515419RCV000482080RCV001174974RCV004537478

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 SubmittersRCV000179358RCV000355534RCV000625302

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

9 SubmittersRCV000179461RCV000504947RCV000673770RCV001075452RCV003927682

NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) SNV
Germline
Chr17:6425644 Conflicting classifications of pathogenicity Condition: not provided
Leber congenital amaurosis 4
Retinitis pigmentosa
Leber congenital amaurosis 4
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA246741 rs_150427474

8 SubmittersRCV000723621RCV000765381RCV001080307RCV001124292RCV004816300

NM_015629.4(PRPF31):c.527+9G>T SNV
Germline
Chr19:54123569 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 11
Retinitis pigmentosa
not specified
Criteria Provided
Conflicting Classifications
CA246757 rs_376994481

5 SubmittersRCV000179492RCV000625320RCV001129022RCV001698995

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 SubmittersRCV000179503RCV000289051RCV000642677

NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) SNV
Germline
Chr1:215674595 Pathogenic/Likely pathogenic Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA275369 rs_753330544

15 SubmittersRCV000179630RCV000666708RCV000724329RCV000504835RCV001449693RCV001074360RCV003454469

NM_001379270.1(CNGA1):c.300A>G (p.Glu100=) SNV
Germline
Chr4:47943400 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 49
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA203392 rs_76061451

4 SubmittersRCV000179712RCV001000540RCV000315452RCV001510700

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 SubmittersRCV000179978RCV001462640

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 SubmittersRCV000488061RCV001087243RCV001376275RCV001563786RCV003888637

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 SubmittersRCV000180310RCV001139621

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 SubmittersRCV000180566RCV000335902

NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) SNV
Germline
Chr11:46705321 Pathogenic/Likely pathogenic Retinitis pigmentosa 72
Retinal dystrophy
Condition: not provided
Exudative vitreoretinopathy 6
Retinitis pigmentosa 72
Criteria Provided
Multiple Submitters
No Conflicts
CA204009 rs_781192528

5 SubmittersRCV000186512RCV001073959RCV001246705RCV002492860

NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) SNV
Germline
Chr16:28482173 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA313722 rs_386833744

7 SubmittersRCV000187016RCV000504655RCV000812919RCV001729444RCV004975317RCV004816316

NM_002900.3(RBP3):c.1569C>G (p.His523Gln) SNV
Germline
Chr10:47350053 Conflicting classifications of pathogenicity Retinitis pigmentosa 66
Condition: not provided
RBP3-related disorder
Criteria Provided
Conflicting Classifications
CA350996 rs_148093336

5 SubmittersRCV000206990RCV001439041RCV003937674

NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) SNV
Germline
Chr10:47350279 Conflicting classifications of pathogenicity Retinitis pigmentosa 66
Condition: not provided
Retinitis pigmentosa
RBP3-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA350922 rs_144289912

9 SubmittersRCV000206927RCV000371593RCV001105649RCV003917725RCV004816319

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
IFT172-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA204566 rs_139021548

5 SubmittersRCV000190597RCV001387370RCV003488445RCV004737295

NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) SNV
Germline
Chr6:64081899 Pathogenic/Likely pathogenic Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA275998 rs_797045089

9 SubmittersRCV000190583RCV000415866RCV001073318RCV001272876

NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) SNV
Germline
Chr6:65405349 Pathogenic/Likely pathogenic Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA276000 rs_752683070

6 SubmittersRCV000190584RCV001069674RCV001074844RCV003230445

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
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA204927 rs_754875934

8 SubmittersRCV000190843RCV000675051RCV001003048RCV001049013RCV001075594RCV002272169

NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) SNV
Germline
Chr8:43199504 Conflicting classifications of pathogenicity Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Condition: not provided
not specified
Retinal dystrophy
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa
HGSNAT-related disorder
Criteria Provided
Conflicting Classifications
CA204929 rs_112029032

24 SubmittersRCV000190844RCV000190845RCV000224674RCV000507277RCV000504631RCV001082167RCV001003049RCV003407694

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 SubmittersRCV000190987RCV000675055RCV001002878RCV001380380RCV004539761

NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) SNV
Germline
Chr16:56511229 Pathogenic Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Retinitis pigmentosa
Retinal dystrophy
Bardet-Biedl syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA204970 rs_376306240

8 SubmittersRCV000190988RCV000675071RCV001002875RCV001074319RCV001049931

NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) SNV
Germline
Chr1:215786715 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA276181 rs_368049814

16 SubmittersRCV001002723RCV001073310RCV000191142RCV000484923RCV000504830RCV001804928RCV000675180

NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) SNV
Germline
Chr1:215993155 Conflicting classifications of pathogenicity Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
not specified
USH2A-related disorder
Criteria Provided
Conflicting Classifications
CA276179 rs_149553844

16 SubmittersRCV000191140RCV000359124RCV000504652RCV000765068RCV001073314RCV001002722RCV003155115RCV004530089

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 SubmittersRCV000191921RCV000490531RCV001119868RCV001489289

NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) SNV
Germline
Chr2:73452960 Pathogenic Alstrom syndrome
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA277244 rs_770558150

8 SubmittersRCV000194023RCV001723763RCV001073778RCV003148669

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 SubmittersRCV000195247RCV000504798

NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) SNV
Germline
ChrX:13763840 Conflicting classifications of pathogenicity not specified
Orofaciodigital syndrome I
Familial aplasia of the vermis
Orofaciodigital syndrome I
Joubert syndrome 10
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
CA205192 rs_797045846

4 SubmittersRCV000192398RCV001223911RCV002485287RCV004020331

NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) SNV
Germline
Chr1:94060733 Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Criteria Provided
Multiple Submitters
No Conflicts
CA347415 rs_200692438

9 SubmittersRCV000194199RCV000408459RCV001071977RCV001075570RCV002485297

NM_144596.4(TTC8):c.1077C>T (p.Asn359=) SNV
Germline
Chr14:88871576 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
not specified
Retinitis pigmentosa
Bardet-Biedl syndrome 8
Condition: not provided
Criteria Provided
Conflicting Classifications
CA339465 rs_150896551

7 SubmittersRCV000200657RCV000249386RCV001116280RCV001117715RCV001579358

NM_144596.4(TTC8):c.1464G>C (p.Ala488=) SNV
Germline
Chr14:88877326 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
not specified
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Bardet-Biedl syndrome 8
Criteria Provided
Conflicting Classifications
CA336017 rs_142073418

8 SubmittersRCV000195887RCV000248272RCV001121289RCV001795322RCV004816339RCV001119277

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 SubmittersRCV000199723RCV001580469

NM_006343.3(MERTK):c.2192T>C (p.Leu731Ser) SNV
Unknown
Chr2:112021424 Likely pathogenic Retinitis pigmentosa 38 Criteria Provided
Single Submitter
CA278959 rs_863224894

1 SubmittersRCV000197519

NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter) SNV
Germline
Chr4:47940775 Pathogenic Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 49
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA351306 rs_759781200

6 SubmittersRCV000987444RCV001054103RCV001376331RCV004816449

NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) SNV
Germline
Chr4:15560607 Pathogenic Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Criteria Provided
Multiple Submitters
No Conflicts
CA210338 rs_773881370

4 SubmittersRCV000201775RCV001853233RCV004796099

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 SubmittersRCV000201604RCV000255574RCV001002863RCV001387494

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 SubmittersRCV000201856RCV000505045RCV001075447RCV001853246

NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) SNV
Germline
Chr3:121772683 Conflicting classifications of pathogenicity Nephronophthisis
Condition: not provided
Retinitis pigmentosa
Senior-Loken syndrome 5
IQCB1-related disorder
Criteria Provided
Conflicting Classifications
CA348358 rs_140630401

6 SubmittersRCV001082244RCV000519668RCV000787845RCV001147493RCV003917846

NM_015662.3(IFT172):c.3880C>T (p.Arg1294Cys) SNV
Germline
Chr2:27453455 Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA072574 rs_369191459

3 SubmittersRCV000207410RCV001853288RCV003888642

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 SubmittersRCV000210323RCV000225553RCV000505157RCV001171538

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 SubmittersRCV000210331RCV001542731RCV002515580

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 SubmittersRCV000210312RCV000760506RCV001542614

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
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA1312195 rs_114052315

5 SubmittersRCV000262643RCV000329706RCV000490294RCV001275655RCV000946241RCV003888643

NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) SNV
Germline
Chr1:215766729 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Conflicting Classifications
CA1393854 rs_150822759

7 SubmittersRCV000490445RCV000505039RCV002515601RCV003454559RCV003888648RCV002503836

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 SubmittersRCV000490448RCV000665617RCV002282046RCV002517445

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 SubmittersRCV000490331RCV000987443RCV001509705

NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn) SNV
Germline
Chr1:215640624 Conflicting classifications of pathogenicity not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1392895 rs_764124390

3 SubmittersRCV000218549RCV000668291RCV001034435

NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) SNV
Germline
Chr1:215650744 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1393098 rs_148674752

7 SubmittersRCV000221554RCV000763827RCV001272936RCV001422550RCV004965333

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 SubmittersRCV000221320RCV001376369

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
Retinitis pigmentosa 39
Usher syndrome type 2A
USH2A-related disorder
Criteria Provided
Conflicting Classifications
CA1393526 rs_143696882

9 SubmittersRCV000213372RCV000504751RCV001074362RCV001241460RCV003462402RCV001810438RCV004529374

NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) SNV
Germline
Chr1:215782759 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA1393991 rs_147374057

6 SubmittersRCV000217733RCV000763829RCV001274951RCV001453428RCV004816372

NM_206933.4(USH2A):c.9570+1G>A SNV
Germline
Chr1:215816996 Pathogenic Rare genetic deafness
Retinitis pigmentosa 39
Condition: not provided
USH2A-related disorder
Usher syndrome type 2A
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA1394291 rs_760225886

13 SubmittersRCV000217703RCV000666079RCV000808044RCV004532752RCV001808577RCV001073320

NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) SNV
Germline
Chr1:215867112 Pathogenic/Likely pathogenic Rare genetic deafness
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA1394520 rs_766590491

11 SubmittersRCV000213731RCV000666615RCV001091129RCV001075409RCV001273711

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 SubmittersRCV000222048RCV000673469RCV003226253RCV003445710RCV003688833

NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) SNV
Germline
Chr1:215900175 Conflicting classifications of pathogenicity Retinitis pigmentosa 39
Usher syndrome type 2A
Inborn genetic diseases
not specified
Condition: not provided
Usher syndrome type 2A
Criteria Provided
Conflicting Classifications
CA1394821 rs_760977747

6 SubmittersRCV000666814RCV002517521RCV000217075RCV001812236RCV001271980

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 SubmittersRCV000216840RCV000667038RCV001271995RCV001495426RCV004532749

NM_206933.4(USH2A):c.5776+1G>A SNV
Germline
Chr1:216073096 Pathogenic Rare genetic deafness
Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinal dystrophy
Usher syndrome type 2
Retinitis pigmentosa 39
Retinitis pigmentosa
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA10576384 rs_876657731

22 SubmittersRCV000213465RCV000255459RCV001257907RCV001074367RCV001003271RCV001542730RCV001723796RCV001002706RCV001375185RCV002500705

NM_206933.4(USH2A):c.3158-7A>G SNV
Germline
Chr1:216207438 Conflicting classifications of pathogenicity not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
CA1396064 rs_201558076

5 SubmittersRCV000219645RCV000923215RCV003445706RCV003445707

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 SubmittersRCV000221775RCV001101009RCV001101010RCV001468097

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
Retinal dystrophy
Usher syndrome type 2
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA1396625 rs_397517963

9 SubmittersRCV000213203RCV000668930RCV000822071RCV001074876RCV001003287RCV001273812RCV003454598

NM_206933.4(USH2A):c.486-1G>C SNV
Germline
Chr1:216418680 Pathogenic Retinitis pigmentosa 39
Condition: not provided
Rare genetic deafness
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA10576390 rs_876657730

7 SubmittersRCV000667749RCV000578546RCV000220465RCV001097550

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 SubmittersRCV000220232RCV000225461RCV001390110

NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) SNV
Germline
Chr11:77182598 Conflicting classifications of pathogenicity not specified
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
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 SubmittersRCV000220951RCV000337813RCV000299195RCV000390552RCV000585568RCV000787855RCV001276699RCV001375348

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 SubmittersRCV000223676RCV001854766

NM_144596.4(TTC8):c.1347G>C (p.Gln449His) SNV
Germline
Chr14:88872452 Pathogenic Retinitis pigmentosa 51 No Assertion Criteria Provided
CA10581229 rs_876661403

1 SubmittersRCV000223936

NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys) SNV
Germline
Chr1:216200070 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA1396001 rs_775177930

6 SubmittersRCV000986539RCV001073837RCV001857783RCV003445719RCV002298551

NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val) SNV
Germline
Chr1:93997943 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Conflicting Classifications
CA10602405 rs_886044763

3 SubmittersRCV001378637RCV004816435RCV000408559RCV004783767

NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) SNV
Germline
Chr1:94005511 Pathogenic/Likely pathogenic Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA10602410 rs_886044758

4 SubmittersRCV000763439RCV000408446RCV000480932RCV004816431

NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) SNV
Germline
Chr1:94014685 Pathogenic/Likely pathogenic ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA957302 rs_760549861

14 SubmittersRCV004732802RCV000408555RCV000441041RCV000826133RCV002485455RCV001074401

NM_000350.3(ABCA4):c.4253+5G>A SNV
Germline
Chr1:94030991 Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA10602432 rs_61750138

7 SubmittersRCV000408462RCV000515660RCV000504972RCV001854783RCV004526649

NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) SNV
Germline
Chr1:94041249 Pathogenic/Likely pathogenic Condition: not provided
Severe early-childhood-onset retinal dystrophy
Autosomal recessive retinitis pigmentosa
Cone-rod dystrophy
Retinal dystrophy
Stargardt disease
Criteria Provided
Multiple Submitters
No Conflicts
CA957928 rs_768278935

6 SubmittersRCV000761669RCV000408467RCV001257844RCV002267731RCV004816402RCV003330593

NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) SNV
Germline
Chr1:94042797 Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Age related macular degeneration 2
Criteria Provided
Multiple Submitters
No Conflicts
CA957993 rs_756840095

8 SubmittersRCV000408518RCV001074682RCV004796121RCV000478178RCV001196593

NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) SNV
Germline
Chr1:94046943 Pathogenic Stargardt disease
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease 3
Retinitis pigmentosa
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy
Macular dystrophy
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA958124 rs_201471607

12 SubmittersRCV000787490RCV000408500RCV000413621RCV004558582RCV000787770RCV004796120RCV000787491RCV000787492RCV001074886

NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) SNV
Germline
Chr1:94046962 Conflicting classifications of pathogenicity Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
Stargardt Disease, Recessive
Severe early-childhood-onset retinal dystrophy
Condition: not provided
ABCA4-related disorder
Retinal dystrophy
Optic atrophy
not specified
Criteria Provided
Conflicting Classifications
CA958130 rs_368846708

5 SubmittersRCV000278622RCV000323631RCV000338922RCV000373695RCV000408538RCV000425865RCV000778260RCV004816396RCV004816397RCV004689686

NM_000350.3(ABCA4):c.2160+1G>T SNV
Germline
Chr1:94060536 Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA10602443 rs_61749427

4 SubmittersRCV000408563RCV001352989RCV001075206RCV001854780

NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) SNV
Germline
Chr1:94062692 Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided
Cone-rod dystrophy 3
ABCA4-related disorder
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA958417 rs_61752398

10 SubmittersRCV000408543RCV001074552RCV001090315RCV001723810RCV004732800RCV004782319

NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) SNV
Germline
Chr1:94063180 Conflicting classifications of pathogenicity Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Severe early-childhood-onset retinal dystrophy
Condition: not provided
ABCA4-related disorder
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA958456 rs_143263315

6 SubmittersRCV000290027RCV000325173RCV000382014RCV000339859RCV000408477RCV001441278RCV001100049RCV003258709RCV004816390

NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) SNV
Germline
Chr1:94063258 Conflicting classifications of pathogenicity Cone-Rod Dystrophy, Recessive
Macular degeneration
Retinitis Pigmentosa, 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 SubmittersRCV000298675RCV000312006RCV000337235RCV000391529RCV000408457RCV001100053RCV001522285RCV003888651RCV004020725

NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) SNV
Germline
Chr1:94108702 Conflicting classifications of pathogenicity Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
ABCA4-related disorder
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA958865 rs_201150919

6 SubmittersRCV000283229RCV000347578RCV000377526RCV000400700RCV001100157RCV001520655RCV003888650

NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) SNV
Germline
Chr1:94112973 Likely pathogenic Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA10602457 rs_886044720

3 SubmittersRCV000408466RCV002485454RCV004816380

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
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA1312098 rs_767648174

10 SubmittersRCV000225453RCV001069480RCV001833240RCV001376283RCV003454681RCV003454682

NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) SNV
Germline
Chr1:197429605 Conflicting classifications of pathogenicity Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
CA10581629 rs_749746650

3 SubmittersRCV000225460RCV002516254

NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter) SNV
Germline
Chr1:197434732 Pathogenic Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Single Submitter
CA10581631 rs_878853371

2 SubmittersRCV000225597RCV001854803

NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) SNV
Germline
Chr1:197434880 Pathogenic/Likely pathogenic Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
CA10581632 rs_878853367

3 SubmittersRCV000225544RCV002519764

NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) SNV
Germline
Chr1:215728383 Pathogenic Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
USH2A-related disorder
Reviewed By Expert Panel
CA1393629 rs_368675850

15 SubmittersRCV000225477RCV000482491RCV000675144RCV003324522RCV001252669RCV003137832RCV003469118RCV004532830

NM_206933.4(USH2A):c.11549-1G>A SNV
Germline
Chr1:215741538 Pathogenic Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA10581637 rs_878853407

9 SubmittersRCV000225372RCV000675178RCV001383731RCV003445715RCV001197049

NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter) SNV
Germline
Chr1:215782170 Pathogenic Retinal dystrophy
Usher syndrome type 2A
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA10581638 rs_878853413

6 SubmittersRCV000225445RCV003454686RCV001383883RCV003389466RCV004567690

NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) SNV
Germline
Chr1:216048579 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
CA10581641 rs_878853412

8 SubmittersRCV000225627RCV000281204RCV000504766RCV000669603RCV001833242RCV003469119

NM_206933.4(USH2A):c.2139C>T (p.Gly713=) SNV
Germline
Chr1:216250931 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
CA1396299 rs_765293412

4 SubmittersRCV000225689RCV001300492RCV001833241RCV002487041

NM_000329.3(RPE65):c.726-2A>C SNV
Germline
Chr1:68439325 Pathogenic Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Criteria Provided
Single Submitter
CA10581648 rs_878853372

2 SubmittersRCV000225374RCV003765455

NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) SNV
Germline
Chr2:112019513 Pathogenic/Likely pathogenic Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA10581654 rs_878853354

4 SubmittersRCV000225669RCV000505072RCV001383851

NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr) SNV
Germline
Chr2:112021534 Likely pathogenic Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA10581655 rs_878853353

3 SubmittersRCV000225591RCV001723812RCV001854798

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 SubmittersRCV000225381RCV001231541RCV001828102

NM_006017.3(PROM1):c.1632G>T (p.Gly544=) SNV
Germline
Chr4:15998435 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 41
Cone-rod dystrophy 12
Stargardt disease 4
Retinal macular dystrophy type 2
Criteria Provided
Conflicting Classifications
CA2866701 rs_753308387

7 SubmittersRCV000225631RCV000488414RCV000765765

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

9 SubmittersRCV000225417RCV000505102RCV001246009RCV001376521RCV002478826

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 SubmittersRCV000225657RCV001003018RCV001854796

NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) SNV
Germline
Chr6:65402507 Pathogenic/Likely pathogenic Retinitis pigmentosa 25
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA3877854 rs_143994166

10 SubmittersRCV000664630RCV000225560RCV001205723RCV003987459

NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) SNV
Germline
Chr8:54625914 Pathogenic/Likely pathogenic Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA10581673 rs_878853328

4 SubmittersRCV000225475RCV000504648RCV001228279

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 SubmittersRCV000225688RCV000367163RCV001510510RCV001729470

NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) SNV
Germline
Chr16:57964158 Pathogenic/Likely pathogenic Retinal dystrophy
Retinitis pigmentosa
CNGB1-related disorder
No Assertion Criteria Provided
CA10581700 rs_878853394

3 SubmittersRCV000225584RCV000505159RCV004730910

NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) SNV
Germline
Chr19:54128187 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
PRPF31-related disorder
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA309329313 rs_868538598

7 SubmittersRCV000225648RCV001854793RCV004757175RCV001723811

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 SubmittersRCV000234931RCV001854844

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 SubmittersRCV000234932RCV002518415

NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) SNV
Germline
Chr6:63721609 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 25
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA3876710 rs_111991705

11 SubmittersRCV000239188RCV000667682RCV000757241RCV001164472RCV003888653

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
Condition: not provided
Sanfilippo syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10586138 rs_370717845

6 SubmittersRCV000239404RCV001030804RCV003765485RCV004760467RCV004701344

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 SubmittersRCV000239603RCV000258092

NM_018191.4(RCBTB1):c.973C>T (p.His325Tyr) SNV
Germline
Chr13:49549530 Likely pathogenic Retinitis pigmentosa
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
Condition: not provided
RCBTB1-related disorder
Criteria Provided
Single Submitter
CA6982724 rs_200826424

4 SubmittersRCV000239605RCV000258084RCV001857843RCV004757981

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 SubmittersRCV000239602RCV000258140RCV001090333

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 SubmittersRCV000239609RCV000258120

NM_000883.4(IMPDH1):c.984G>C (p.Gln328His) SNV
Germline
Chr7:128398504 Pathogenic Retinitis pigmentosa 10 No Assertion Criteria Provided
CA10586358 rs_886037911

1 SubmittersRCV000240659

NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser) SNV
Germline
Chr1:46194293 Conflicting classifications of pathogenicity Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA833593 rs_200863680

5 SubmittersRCV000240954RCV001333961RCV001854940RCV003479082RCV003133196

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
Retinitis pigmentosa
Pigmentary retinal dystrophy
Patterned macular dystrophy 1
Choroidal dystrophy, central areolar 2
Adult-onset foveomacular vitelliform dystrophy
Cone-rod dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3808535 rs_189358082

3 SubmittersRCV000248113RCV000281424RCV000315389RCV000336463RCV000369961RCV000391588RCV000406240RCV000945845

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 SubmittersRCV000270079RCV000362261RCV003891984

NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) SNV
Germline
Chr14:88839501 Conflicting classifications of pathogenicity not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA7302389 rs_114557412

6 SubmittersRCV000253058RCV000470558RCV001117604RCV001117605

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 SubmittersRCV000245276RCV000316005RCV000372849RCV001094457RCV001531819

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 SubmittersRCV000254174RCV000307936RCV000341748RCV001094321RCV003891985

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
Retinitis pigmentosa
Goldmann-Favre syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7640321 rs_1805022

5 SubmittersRCV000250240RCV000283298RCV000380095RCV001115237RCV001275377RCV000957312

NM_031885.5(BBS2):c.367A>G (p.Ile123Val) SNV
Germline
Chr16:56511263 Conflicting classifications of pathogenicity not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 1
Retinitis pigmentosa 74
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA8066062 rs_11373

12 SubmittersRCV000241605RCV000261972RCV000576482RCV000709672RCV001526785RCV001706364RCV003888665

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 SubmittersRCV000243766RCV000366543RCV001001916RCV001518765

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 SubmittersRCV000251131RCV000325640RCV000296424RCV000382676

NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) SNV
Germline
Chr1:197328935 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 12
Macular dystrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA1311659 rs_764256655

9 SubmittersRCV000255600RCV001075823RCV001542640RCV000656138RCV002500956RCV003454773RCV001040337RCV003454774

NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter) SNV
Germline
Chr1:216072910 Pathogenic Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA1395342 rs_751130485

6 SubmittersRCV000255960RCV001276244RCV003888668RCV003475859

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 SubmittersRCV000255405RCV001074717RCV001271235RCV003454778

NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) SNV
Germline
Chr1:46194860 Pathogenic Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy
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 SubmittersRCV000255207RCV000695969RCV000984299RCV000984296RCV000984297RCV000984298RCV002500958RCV002518761RCV003155140RCV003463717

NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) SNV
Germline
Chr1:94062608 Pathogenic Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Criteria Provided
Multiple Submitters
No Conflicts
CA10588302 rs_145961131

6 SubmittersRCV000256006RCV001075471RCV000504776RCV002518745

NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) SNV
Germline
Chr1:94083372 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Criteria Provided
Conflicting Classifications
CA958711 rs_138682163

4 SubmittersRCV000255612RCV000764206RCV004542963

NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) SNV
Germline
Chr8:43193790 Pathogenic Condition: not provided
Sanfilippo syndrome
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Criteria Provided
Multiple Submitters
No Conflicts
CA4736872 rs_753355844

6 SubmittersRCV000255417RCV000587936RCV000665568RCV000763185

NM_206933.4(USH2A):c.9258+1G>A SNV
Germline
Chr1:215844293 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA1394380 rs_748810737

12 SubmittersRCV000256404RCV000672669RCV002059062RCV001074509RCV001091127

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 SubmittersRCV000256390RCV000678635RCV001075572RCV001171534RCV001240204

NM_201548.5(CERKL):c.1012C>T (p.Arg338Ter) SNV
Germline
Chr2:181548741 Pathogenic Condition: not provided
Retinitis pigmentosa 26
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA2010592 rs_748394238

7 SubmittersRCV000306208RCV001277030RCV004816471

NM_014714.4(IFT140):c.1010-1G>A SNV
Germline
Chr16:1586276 Pathogenic/Likely pathogenic Condition: not provided
Saldino-Mainzer syndrome
Jeune thoracic dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA7814454 rs_770185023

7 SubmittersRCV000326779RCV001055096RCV000516131RCV001376438RCV002503978RCV003155145

NM_000390.4(CHM):c.757C>T (p.Arg253Ter) SNV
Germline
ChrX:85958923 Pathogenic Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
CHM-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA10603741 rs_886041178

6 SubmittersRCV000265578RCV000787565RCV003888669RCV004755834

NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) SNV
Germline
Chr12:88125343 Conflicting classifications of pathogenicity Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
not specified
Meckel syndrome, type 4
Joubert syndrome 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Inborn genetic diseases
Leber congenital amaurosis
Retinitis pigmentosa
Condition: not provided
Kidney disorder
Stuve-Wiedemann syndrome 2
Criteria Provided
Conflicting Classifications
CA6712623 rs_201988582

14 SubmittersRCV000280320RCV000320212RCV000342452RCV000354111RCV000374721RCV000396707RCV000637003RCV000714822RCV001265795RCV001275039RCV001589313RCV001580478RCV002294212RCV003319345

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 SubmittersRCV000285588RCV000340906RCV001521801

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 SubmittersRCV000330233RCV000369605

NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn) SNV
Germline
Chr8:54627014 Conflicting classifications of pathogenicity not specified
Condition: not provided
Retinitis pigmentosa 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4751646 rs_35234349

5 SubmittersRCV000313881RCV000962335RCV001002272RCV004955367

NM_000329.3(RPE65):c.331C>T (p.Pro111Ser) SNV
Germline
Chr1:68444798 Pathogenic Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Reviewed By Expert Panel
CA10603953 rs_886042220

4 SubmittersRCV000288725RCV002519096RCV003765588RCV004567825

NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys) SNV
Germline
Chr15:89211882 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Pigmentary retinal dystrophy
Newfoundland cone-rod dystrophy
RLBP1-related disorder
not specified
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7722243 rs_142244640

6 SubmittersRCV000300142RCV000343652RCV000399933RCV000357376RCV004732815RCV002222466RCV004816478

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 SubmittersRCV000356774RCV001833313RCV003947838

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
Usher syndrome type 2A
Reviewed By Expert Panel
CA1393449 rs_750396156

20 SubmittersRCV000498898RCV000504963RCV000675149RCV000678644RCV001075586RCV001089679RCV004786650

NM_014249.4(NR2E3):c.205G>A (p.Gly69Ser) SNV
Germline
Chr15:71811569 Conflicting classifications of pathogenicity Condition: not provided
Enhanced S-cone syndrome
NR2E3-related disorder
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7640242 rs_200102936

6 SubmittersRCV000263332RCV001118176RCV004732817RCV001119724RCV004816483

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
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinal dystrophy
ABCA4-related disorder
Criteria Provided
Conflicting Classifications
CA958501 rs_140482171

10 SubmittersRCV000264059RCV000270788RCV000328209RCV000385092RCV000512657RCV000505101RCV000844930RCV001073584RCV001102037

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 SubmittersRCV000265472RCV000376242RCV000400757RCV001174660

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 SubmittersRCV000316815RCV003463751

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 SubmittersRCV000297294RCV000322201RCV000886316

NM_206933.4(USH2A):c.908G>A (p.Arg303His) SNV
Germline
Chr1:216325540 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 39
Hearing impairment
Retinal dystrophy
Usher syndrome type 2A
Usher syndrome
USH2A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA1396646 rs_371777049

17 SubmittersRCV000276147RCV000666542RCV000754554RCV001074790RCV001828199RCV002229842RCV004732821

NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) SNV
Germline
Chr16:56497013 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Criteria Provided
Multiple Submitters
No Conflicts
CA8065604 rs_201196733

8 SubmittersRCV000335732RCV000531316RCV000424669RCV002502120

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 SubmittersRCV000334926RCV000960229RCV001143464

NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) SNV
Germline
Chr5:149931102 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 43
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA3504944 rs_148938083

7 SubmittersRCV000261042RCV000725573RCV000765822RCV003888675

NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) SNV
Germline
Chr1:46193580 Conflicting classifications of pathogenicity Condition: not provided
Muscle eye brain disease
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA833537 rs_138745073

7 SubmittersRCV000324220RCV000763934RCV002518961RCV001855150RCV003888676

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 SubmittersRCV000305383RCV000725618RCV001075302RCV002250616RCV002519177

NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) SNV
Germline
Chr1:197421010 Pathogenic Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
CA10605094 rs_115352681

6 SubmittersRCV000322587RCV000787574RCV001202291RCV003454792RCV003454793

NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) SNV
Germline
Chr1:216292202 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Usher syndrome
Criteria Provided
Conflicting Classifications
CA10605103 rs_886043096

4 SubmittersRCV000308238RCV001723872RCV003323493

NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) SNV
Germline
Chr6:42721968 Conflicting classifications of pathogenicity Condition: not provided
PRPH2-related disorder
Pigmentary retinal dystrophy
Patterned macular dystrophy 1
Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2
Cone-rod dystrophy
Retinitis pigmentosa 7
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA3808629 rs_563581127

7 SubmittersRCV000403427RCV000791184RCV001165011RCV001165007RCV001165008RCV001165009RCV001165010RCV001165012RCV004720250RCV004816502

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 SubmittersRCV000376545RCV001275656RCV001080703RCV003888680RCV004529472

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 SubmittersRCV000325162RCV001395903

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 SubmittersRCV000347622RCV001106784

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 SubmittersRCV000293954RCV000334558RCV004021202

NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser) SNV
Germline
Chr1:216246935 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA1396227 rs_34447581

6 SubmittersRCV000339482RCV000371237RCV000405347RCV004816503

NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) SNV
Germline
Chr1:215900194 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
not specified
Retinal dystrophy
Usher syndrome type 2A
Criteria Provided
Conflicting Classifications
CA1394829 rs_483353056

8 SubmittersRCV000373313RCV000504866RCV000670917RCV000826074RCV001073464RCV001274241

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 SubmittersRCV000267203RCV001106781RCV003888684

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 SubmittersRCV000340965RCV001001792

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 SubmittersRCV000277605RCV000297097RCV000332675RCV002286728

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
PROM1-related disorder
Criteria Provided
Conflicting Classifications
CA2866581 rs_62617075

6 SubmittersRCV000297319RCV000303280RCV000342856RCV000356389RCV000390893RCV004734935

NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys) SNV
Germline
Chr6:10784484 Conflicting classifications of pathogenicity Condition: not provided
Retinitis Pigmentosa, Recessive
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3633444 rs_149006687

4 SubmittersRCV000306405RCV000332343RCV002521967

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 SubmittersRCV000297195RCV001833372

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 SubmittersRCV000333936RCV000665932RCV000965012RCV001164471

NM_003322.6(TULP1):c.846G>A (p.Pro282=) SNV
Germline
Chr6:35506156 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 15
TULP1-related disorder
Criteria Provided
Conflicting Classifications
CA3772766 rs_149980694

4 SubmittersRCV000271258RCV000274503RCV000302940RCV004734937

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 SubmittersRCV000337492RCV001147268RCV003957486

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 SubmittersRCV000398958RCV001083735RCV001271898

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 SubmittersRCV000301782RCV000342656RCV003930136

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 SubmittersRCV000281832RCV001000794RCV001828242RCV003463769

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 SubmittersRCV000290796RCV001154419RCV001154420

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 SubmittersRCV000303463RCV000313919RCV000361771RCV000365161RCV000400435RCV000950665RCV003888691RCV004535428

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 SubmittersRCV000314904RCV000349792RCV000396611RCV000398400RCV000919864RCV003888693

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 SubmittersRCV000263023RCV000369714

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 SubmittersRCV000288468RCV000352868RCV000386501RCV000390492RCV000401506

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Criteria Provided
Conflicting Classifications
CA1312032 rs_144436610

7 SubmittersRCV000313740RCV000363592RCV000407701RCV000585260RCV001082136RCV001833395

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 SubmittersRCV000371225RCV001067120RCV001828271

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
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Inborn genetic diseases
Muscle eye brain disease
Criteria Provided
Conflicting Classifications
CA833803 rs_139701867

7 SubmittersRCV000524954RCV000407599RCV000763938RCV002518127RCV001275757

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 SubmittersRCV000322042RCV000883271RCV001169700RCV001169701

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 SubmittersRCV000340734RCV003469250

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
Familial aplasia of the vermis
Meckel-Gruber syndrome
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Inborn genetic diseases
CC2D2A-related disorder
Criteria Provided
Conflicting Classifications
CA2863732 rs_201954181

6 SubmittersRCV000335348RCV001149502RCV001149503RCV001248140RCV002487294RCV002518166RCV004537623

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 SubmittersRCV000280976RCV000909237RCV003920179

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 SubmittersRCV000302172RCV000391999RCV001425469RCV001097419

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 SubmittersRCV000262251RCV000356964RCV001097420RCV002519397RCV004021360

NM_022367.4(SEMA4A):c.405T>C (p.Asn135=) SNV
Germline
Chr1:156158429 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Cone-rod dystrophy 10
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA1155026 rs_56271605

3 SubmittersRCV000370666RCV000317466RCV000904489RCV001097514

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 SubmittersRCV000276083RCV000331109RCV000894976RCV001097515

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 SubmittersRCV000299558RCV000335772RCV000910537RCV001095826

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 SubmittersRCV000311723RCV000366210RCV001002564RCV001099383RCV001519737

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 SubmittersRCV000268481RCV000381397RCV001432135RCV001101370

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 SubmittersRCV000316223RCV000373249RCV001101484

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 SubmittersRCV000295259RCV000352124RCV001101489

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 SubmittersRCV000351132RCV003765696

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 SubmittersRCV000292447RCV001438853

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 SubmittersRCV000371930RCV002059324

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 SubmittersRCV000312105RCV000348321RCV001097713RCV001515094

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 SubmittersRCV000327816RCV000382298RCV000908374RCV001099276

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 SubmittersRCV000287979RCV000342453RCV000595492RCV001101272

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
CA1311873 rs_375141011

2 SubmittersRCV000304813RCV000336321RCV000401040RCV001491386

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
CA1312121 rs_371089348

2 SubmittersRCV000306210RCV000359746RCV000391747RCV000951208

NM_201253.3(CRB1):c.3878+15A>T SNV
Germline
Chr1:197438690 Conflicting classifications of pathogenicity Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Criteria Provided
Conflicting Classifications
CA1312424 rs_200217112

2 SubmittersRCV000279430RCV000336749RCV001444410RCV000400725

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 SubmittersRCV000288696RCV000351854RCV000393295

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 SubmittersRCV000299297RCV000517649RCV001698584RCV003967836

NM_014053.4(FLVCR1):c.1521A>G (p.Leu507=) SNV
Germline
Chr1:212889253 Conflicting classifications of pathogenicity Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA1386164 rs_74607124

3 SubmittersRCV000384014RCV001452302RCV004999255

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 SubmittersRCV000328804RCV000383428RCV001495406

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
not specified
Criteria Provided
Conflicting Classifications
CA1396084 rs_199853422

3 SubmittersRCV000288109RCV000326688RCV001509796RCV004800378

NM_206933.4(USH2A):c.1539C>T (p.Thr513=) SNV
Germline
Chr1:216323485 Conflicting classifications of pathogenicity Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA1396495 rs_199939890

4 SubmittersRCV000278735RCV001172230RCV000375855

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 SubmittersRCV000292417RCV000389034RCV000606338RCV001520242RCV004537640

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 SubmittersRCV000361834RCV001408048

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

12 SubmittersRCV000356379RCV000394505RCV000611914RCV000943840RCV001578966

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 SubmittersRCV000277125RCV000332273RCV000908710RCV004537639

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 SubmittersRCV000322788RCV000376961RCV001431571

NM_201253.3(CRB1):c.1172-12A>G SNV
Germline
Chr1:197420988 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
CA1311875 rs_146175509

2 SubmittersRCV000301371RCV000355365RCV000402144RCV002519468

NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser) SNV
Germline
Chr1:197427550 Conflicting classifications of pathogenicity Leber congenital amaurosis 8
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Criteria Provided
Conflicting Classifications
CA1312077 rs_140494140

3 SubmittersRCV000266368RCV000360994RCV001242513RCV001828286

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
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1312078 rs_150412614

6 SubmittersRCV000281831RCV000317013RCV000371666RCV000418233RCV001073755RCV000945740RCV002292503

NM_201253.3(CRB1):c.2843-13C>T SNV
Germline
Chr1:197434693 Conflicting classifications of pathogenicity Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
CA1312233 rs_199808176

2 SubmittersRCV000291108RCV000346171RCV000380917RCV001517111

NM_201253.3(CRB1):c.3228T>C (p.Asp1076=) SNV
Germline
Chr1:197435091 Conflicting classifications of pathogenicity Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA1312297 rs_780576185

3 SubmittersRCV000274993RCV000313687RCV000370799RCV000952421RCV003888698

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
CA1312328 rs_116246250

2 SubmittersRCV000269228RCV000326351RCV000383308RCV000945327

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
Retinitis pigmentosa 12
Retinal dystrophy
CRB1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1311688 rs_114846212

8 SubmittersRCV000285066RCV000347681RCV000384124RCV000945440RCV001271894RCV003454863RCV003888696RCV004537638RCV004567846

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
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA1311978 rs_750442312

4 SubmittersRCV000279892RCV000334922RCV000400239RCV001833418RCV000893286RCV003888697

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
CA1312017 rs_201949837

2 SubmittersRCV000293851RCV000348791RCV000401010RCV001435530

NM_201253.3(CRB1):c.2307C>T (p.Arg769=) SNV
Germline
Chr1:197427632 Conflicting classifications of pathogenicity Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Leber congenital amaurosis 8
not specified
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Leber congenital amaurosis
Criteria Provided
Conflicting Classifications
CA1312096 rs_151104285

8 SubmittersRCV000289291RCV000352667RCV000398025RCV000423844RCV000878020RCV001699429RCV001828287

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA1312377 rs_142090517

3 SubmittersRCV000272687RCV000320691RCV000964610RCV000377313RCV003888699

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
CA1312396 rs_187937543

3 SubmittersRCV000285227RCV000342421RCV000371471RCV000994219RCV001239382

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 SubmittersRCV000396022RCV001501145

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 SubmittersRCV000266137RCV000516759RCV001642907

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 SubmittersRCV000269781RCV001660569RCV002059426

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
not specified
Criteria Provided
Conflicting Classifications
CA1386229 rs_149887215

10 SubmittersRCV000387027RCV000422945RCV001074738RCV002519488RCV003930223RCV004999256

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 SubmittersRCV000265612RCV000378867RCV000840094RCV004021420

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 SubmittersRCV000280684RCV000335820RCV001470224

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 SubmittersRCV000298283RCV000353037RCV002059427

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 SubmittersRCV000261571RCV000358742RCV001443214

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 SubmittersRCV000285688RCV000402756RCV001430541

NM_205861.3(DHDDS):c.*128C>G SNV
Germline
Chr1:26469259 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10610029 rs_146706631

3 SubmittersRCV000406054RCV003221893

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 SubmittersRCV000287911RCV000352172RCV000923552RCV001196851

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 SubmittersRCV000310088RCV000348599RCV000393813RCV000403289RCV001096131RCV001672414

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

5 SubmittersRCV000294673RCV000315923RCV000349548RCV000389153RCV001099679RCV001424033RCV003888704

NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile) SNV
Germline
Chr1:94021333 Conflicting classifications of pathogenicity Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
Stargardt Disease, Recessive
Condition: not provided
Retinal dystrophy
ABCA4-related disorder
Criteria Provided
Conflicting Classifications
CA957429 rs_114518437

4 SubmittersRCV000301076RCV000340669RCV000353628RCV000393458RCV000486564RCV001075649RCV001101750

NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=) SNV
Germline
Chr1:94025010 Conflicting classifications of pathogenicity Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Condition: not provided
ABCA4-related disorder
Criteria Provided
Conflicting Classifications
CA957556 rs_138831474

3 SubmittersRCV000310399RCV000350024RCV000362798RCV000406989RCV000488110RCV001096332

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 SubmittersRCV000289560RCV000293111RCV000352695RCV000388512RCV001101856RCV002059507

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 SubmittersRCV000283211RCV000342791RCV000346419RCV000377692RCV001098163RCV003718155

NM_000350.3(ABCA4):c.2517C>T (p.Ser839=) SNV
Germline
Chr1:94055181 Conflicting classifications of pathogenicity Macular degeneration
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
ABCA4-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA958253 rs_138246242

2 SubmittersRCV000289234RCV000346485RCV000401706RCV000401493RCV001096534RCV001472118

NM_000350.3(ABCA4):c.791G>A (p.Arg264His) SNV
Germline
Chr1:94083419 Conflicting classifications of pathogenicity Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Condition: not provided
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA958722 rs_567985213

4 SubmittersRCV000286376RCV000334279RCV000393402RCV000402094RCV001241582RCV002522135RCV003888708

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 SubmittersRCV000271691RCV000384862RCV001419413

NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=) SNV
Germline
Chr1:94014597 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
ABCA4-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA957287 rs_202199507

3 SubmittersRCV000262810RCV000302869RCV000355388RCV000403051RCV001099764RCV002059506

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 SubmittersRCV000273593RCV000314153RCV000371133RCV000404481RCV001101751RCV001413399

NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) SNV
Germline
Chr1:94030524 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Macular degeneration
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
not specified
Retinal dystrophy
Condition: not provided
ABCA4-related disorder
Criteria Provided
Conflicting Classifications
CA957663 rs_142673376

5 SubmittersRCV000306201RCV000345844RCV000358611RCV000408394RCV000603618RCV001074568RCV001515591RCV001098066

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 SubmittersRCV000263611RCV002059478

NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=) SNV
Germline
Chr1:94031055 Conflicting classifications of pathogenicity Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
ABCA4-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA957691 rs_763857670

2 SubmittersRCV000284073RCV000285098RCV000342444RCV000400653RCV001098070RCV002520512

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 SubmittersRCV000314607RCV000349406RCV000369258RCV000406947RCV000882442RCV001099865

NM_000350.3(ABCA4):c.2744-5C>T SNV
Germline
Chr1:94047098 Conflicting classifications of pathogenicity Macular degeneration
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Condition: not provided
ABCA4-related disorder
Criteria Provided
Conflicting Classifications
CA958166 rs_76305791

2 SubmittersRCV000263987RCV000323753RCV000358873RCV000360065RCV000897416RCV001101953

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 SubmittersRCV000294598RCV000883330

NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp) SNV
Germline
Chr2:111982958 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA1831307 rs_142985827

6 SubmittersRCV000289934RCV000729320RCV004816572

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 SubmittersRCV000265981RCV000321010RCV003888702

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 SubmittersRCV000261694RCV000283953RCV000319142RCV000376091RCV001096126

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 SubmittersRCV000264727RCV000280073RCV000319805RCV000374572RCV001099678RCV001380600

NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) SNV
Germline
Chr1:94010802 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Macular degeneration
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Condition: not provided
ABCA4-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA957176 rs_191506332

5 SubmittersRCV000266769RCV000306349RCV000269853RCV000361052RCV000922637RCV001096232RCV003888705

NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=) SNV
Germline
Chr1:94025015 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
ABCA4-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA957557 rs_774957381

2 SubmittersRCV000264287RCV000270263RCV000304270RCV000361271RCV001096333RCV001466055

NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys) SNV
Germline
Chr1:94040103 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
Condition: not provided
Retinal dystrophy
ABCA4-related disorder
Criteria Provided
Conflicting Classifications
CA957897 rs_75267647

5 SubmittersRCV000261992RCV000297212RCV000331144RCV000356767RCV000894101RCV001073731RCV001096426

NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=) SNV
Germline
Chr1:94043463 Conflicting classifications of pathogenicity Macular degeneration
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
ABCA4-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10611639 rs_886046565

2 SubmittersRCV000298413RCV000334643RCV000392686RCV000399846RCV001098167RCV002520514

NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys) SNV
Germline
Chr1:94078627 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
CA958572 rs_770439859

4 SubmittersRCV000295678RCV000330893RCV000343633RCV000387710RCV000523526RCV001102042RCV004816525

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 SubmittersRCV000262287RCV000319666RCV000354740RCV000367371RCV000971845RCV001096638

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
ABCA4-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA958825 rs_148091207

3 SubmittersRCV000262244RCV000275189RCV000330288RCV000375450RCV001100154RCV000902561

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 SubmittersRCV000275813RCV000315617RCV000330641RCV000354180RCV001099768RCV001850573

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 SubmittersRCV000263027RCV000315841RCV000321629RCV000374011RCV001096335RCV002520511

NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=) SNV
Germline
Chr1:94031856 Conflicting classifications of pathogenicity Macular degeneration
Stargardt Disease, Recessive
ABCA4-related disorder
Retinitis Pigmentosa, Recessive
not specified
Condition: not provided
Cone-Rod Dystrophy, Recessive
Criteria Provided
Conflicting Classifications
CA957737 rs_141004967

7 SubmittersRCV000297155RCV000354394RCV001099859RCV000337011RCV001699431RCV000909683RCV000392768

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
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA958507 rs_138157885

6 SubmittersRCV000286324RCV000321513RCV000378419RCV001073691RCV001303441RCV001590914RCV003323503

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 SubmittersRCV000292103RCV000326953RCV000339971RCV000383912RCV000907632RCV001075141RCV004537688

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 SubmittersRCV000299375RCV000312349RCV000337928RCV000401167RCV001098365RCV002059509

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 SubmittersRCV000285254RCV001509950

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 SubmittersRCV000310645RCV001478979

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 SubmittersRCV000305032RCV001410430RCV003957700

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 SubmittersRCV000274981RCV000894697RCV001699459

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 SubmittersRCV000332356RCV000757464

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 SubmittersRCV000383593RCV001429313

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 SubmittersRCV000330591RCV000594801

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 SubmittersRCV000352605RCV000596593RCV003950138

NM_006343.3(MERTK):c.996C>G (p.Val332=) SNV
Germline
Chr2:111975324 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10611902 rs_886054757

2 SubmittersRCV000382076RCV002057558

NM_006343.3(MERTK):c.1262G>A (p.Arg421Gln) SNV
Germline
Chr2:111982959 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
MERTK-related disorder
Criteria Provided
Conflicting Classifications
CA1831308 rs_138908058

3 SubmittersRCV000347356RCV001417923RCV004730935

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 SubmittersRCV000302738RCV001074749RCV001299809

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 SubmittersRCV000342680RCV000597622RCV001700065

NM_201548.5(CERKL):c.313C>T (p.Arg105Trp) SNV
Germline
Chr2:181604005 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 26
not specified
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA2010869 rs_149078111

7 SubmittersRCV000276396RCV004703813RCV000614379RCV000886395RCV003888786

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 SubmittersRCV000278526RCV000902151RCV001833462

NM_144631.6(ZNF513):c.1260C>T (p.Leu420=) SNV
Germline
Chr2:27377911 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Dominant
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1577833 rs_112828880

2 SubmittersRCV000381347RCV001137870RCV000884170

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 SubmittersRCV000352443RCV003422310

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 SubmittersRCV000360585RCV002263609

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 SubmittersRCV000282618RCV002057690

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 SubmittersRCV000308438RCV001509946RCV003888794

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 SubmittersRCV000287497RCV003422311

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 SubmittersRCV000333857RCV000926636

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 SubmittersRCV000294870RCV001439042

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 SubmittersRCV000281807RCV001467295

NM_201548.5(CERKL):c.1500T>C (p.Asp500=) SNV
Germline
Chr2:181539130 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
CERKL-related disorder
Criteria Provided
Conflicting Classifications
CA2010409 rs_141656965

3 SubmittersRCV000339011RCV001466695RCV004755883

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 SubmittersRCV000400556RCV000593769RCV000625303

NM_001029883.3(PCARE):c.3705G>A (p.Pro1235=) SNV
Germline
Chr2:29065031 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA1591846 rs_191767954

3 SubmittersRCV001438586RCV000379618

NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) SNV
Germline
Chr2:61826542 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 28
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA1678948 rs_138464813

7 SubmittersRCV000336675RCV000625246RCV000734472RCV001700069

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 SubmittersRCV000394033RCV000923299RCV001274208

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 SubmittersRCV000388264RCV000733680

NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=) SNV
Germline
Chr2:96283570 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
SNRNP200-related disorder
Criteria Provided
Conflicting Classifications
CA1778153 rs_377641548

4 SubmittersRCV000339024RCV000597447RCV004757209

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 SubmittersRCV000369636RCV001369757

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 SubmittersRCV000311476RCV002519994

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 SubmittersRCV000268539RCV001498030

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 SubmittersRCV000372051RCV001451750

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 SubmittersRCV000354457RCV003437073

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 SubmittersRCV000385023RCV000907342RCV003888817

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 SubmittersRCV000288559RCV002057814

NM_016247.4(IMPG2):c.2431T>G (p.Ser811Ala) SNV
Germline
Chr3:101243900 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
IMPG2-related disorder
Criteria Provided
Conflicting Classifications
CA2518978 rs_76048775

5 SubmittersRCV000302368RCV001058248RCV003888819RCV004757213

NM_016247.4(IMPG2):c.1382C>G (p.Thr461Arg) SNV
Germline
Chr3:101245963 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
IMPG2-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA2519176 rs_201905772

5 SubmittersRCV000389498RCV000980050RCV003972442RCV003888820

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 SubmittersRCV000339456RCV001519735

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 SubmittersRCV000343558RCV000591814

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 SubmittersRCV000403123RCV001060574RCV003278777

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 SubmittersRCV000298993RCV001438333

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 SubmittersRCV000335959RCV001406715

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 SubmittersRCV000308609RCV001521271

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 SubmittersRCV000287720RCV000326400

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 SubmittersRCV000261332RCV000369955

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 SubmittersRCV000404365RCV001504716

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 SubmittersRCV000339383RCV000757047RCV001282964RCV003888797

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 SubmittersRCV000355654RCV000489456RCV000766629RCV000765664RCV003922450

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 SubmittersRCV000407783RCV000948594RCV003888802

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 SubmittersRCV000302153RCV001365263RCV003888795

NM_000539.3(RHO):c.48G>A (p.Ala16=) SNV
Germline
Chr3:129528781 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2607044 rs_766112074

2 SubmittersRCV000371594RCV000323919RCV003765982

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 SubmittersRCV000309470RCV000967952RCV001699327

NM_001201543.2(FAM161A):c.717G>A (p.Pro239=) SNV
Germline
Chr2:61840287 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
FAM161A-related disorder
Criteria Provided
Conflicting Classifications
CA1679299 rs_377016856

4 SubmittersRCV000269398RCV000928354RCV003888805RCV004758002

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 SubmittersRCV000277332RCV001453112

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 SubmittersRCV000284209RCV001861159

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 SubmittersRCV000278178RCV001436501

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 SubmittersRCV000404781RCV001321090RCV002519995RCV003888812

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 SubmittersRCV000308717RCV001438836

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 SubmittersRCV000359788RCV000901897

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 SubmittersRCV000280276RCV000921234

NM_014014.5(SNRNP200):c.5409C>T (p.Ser1803=) SNV
Germline
Chr2:96278626 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA1777981 rs_139137932

3 SubmittersRCV000997183RCV000384407

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 SubmittersRCV000262731RCV001438577

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 SubmittersRCV000348283RCV001199484RCV001245407

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 SubmittersRCV000278383RCV000912285RCV003888821RCV003950195

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 SubmittersRCV000280467RCV002057815

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 SubmittersRCV000337895RCV001471832

NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) SNV
Germline
Chr3:101253712 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
not specified
IMPG2-related disorder
Criteria Provided
Conflicting Classifications
CA2519247 rs_148056371

6 SubmittersRCV000375226RCV000949263RCV001000670RCV004757214

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 SubmittersRCV000304079RCV000354200RCV000860576RCV001528228RCV003972467

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 SubmittersRCV000291926RCV000381551

NM_000539.3(RHO):c.480C>A (p.Thr160=) SNV
Germline
Chr3:129530994 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 1
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA2607168 rs_151063543

6 SubmittersRCV000309251RCV000389975RCV000732353RCV001700071

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 SubmittersRCV000329636RCV000386443RCV001456280

NM_000539.3(RHO):c.959C>A (p.Thr320Asn) SNV
Germline
Chr3:129533630 Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 1
Condition: not provided
Retinitis pigmentosa
RHO-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA2607346 rs_138831590

5 SubmittersRCV000295474RCV001322065RCV000380819RCV003401364RCV004816589

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 SubmittersRCV000297399RCV000335951RCV000407189

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 SubmittersRCV000308984RCV000314748RCV000363627RCV000393001RCV001518533RCV004544649

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 SubmittersRCV000291776RCV000344405RCV000383774RCV000400713RCV001510571

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
Retinitis pigmentosa
Cone-rod dystrophy 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10617341 rs_886059203

2 SubmittersRCV000295982RCV000348661RCV000394593RCV000388013RCV001504867

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 SubmittersRCV000308028RCV000347822RCV000369682RCV000398824RCV001300200RCV003888826

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 SubmittersRCV000375944RCV002057930

NM_001379270.1(CNGA1):c.349G>A (p.Glu117Lys) SNV
Germline
Chr4:47943269 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2911307 rs_539600817

3 SubmittersRCV000348268RCV003114506

NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln) SNV
Germline
Chr4:654153 Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2794178 rs_145756948

3 SubmittersRCV000327738RCV000382287RCV001244128RCV004955455

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 SubmittersRCV000314507RCV000404989RCV000906390

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 SubmittersRCV000267066RCV000361712RCV001861237RCV003243107

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 SubmittersRCV000352811RCV000388750RCV002057943RCV003888832

NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn) SNV
Germline
Chr4:666588 Pathogenic/Likely pathogenic Retinitis pigmentosa 40
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA2795009 rs_141563823

4 SubmittersRCV000678595RCV001091293RCV004816598

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 SubmittersRCV000271338RCV000306689RCV000328709RCV000363732

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 SubmittersRCV000278098RCV000281713RCV000316805RCV000373870

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 SubmittersRCV000274437RCV000296764RCV000331908RCV000388672RCV001301011RCV003888822

NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) SNV
Germline
Chr4:15984352 Conflicting classifications of pathogenicity Retinal macular dystrophy type 2
Retinitis pigmentosa
Condition: not provided
Cone-rod dystrophy 12
Stargardt disease 4
Criteria Provided
Conflicting Classifications
CA2866434 rs_202029748

4 SubmittersRCV000319916RCV000274073RCV000839749RCV000355970RCV000368747

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 SubmittersRCV000295344RCV000312842RCV000352517RCV000401437RCV001861230

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 SubmittersRCV000293309RCV000896898

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
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2793852 rs_138423108

3 SubmittersRCV000298325RCV000341531RCV003888829RCV001320505

NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp) SNV
Germline
Chr4:625830 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2793868 rs_200079698

3 SubmittersRCV000269946RCV000334160RCV001211414

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 SubmittersRCV000318799RCV000375998RCV000899653RCV001699384

NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys) SNV
Germline
Chr4:634704 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA2793981 rs_115775983

7 SubmittersRCV000350373RCV000406027RCV000958533RCV003888830

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 SubmittersRCV000342401RCV000393014RCV001451842

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 SubmittersRCV000284445RCV000378655RCV000912271

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 SubmittersRCV000339413RCV000407941RCV002057942

NM_000283.4(PDE6B):c.1218C>T (p.Asp406=) SNV
Germline
Chr4:656984 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2794390 rs_148190219

3 SubmittersRCV000311133RCV000365845RCV000891594

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 SubmittersRCV000270690RCV000325718RCV000961040

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 SubmittersRCV000322074RCV000376740RCV000909197

NM_000283.4(PDE6B):c.1635C>T (p.Phe545=) SNV
Germline
Chr4:662154 Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2794626 rs_141813304

2 SubmittersRCV000391217RCV000309626RCV000966175

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 SubmittersRCV000262459RCV000356608RCV001067889RCV003888834

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 SubmittersRCV000283346RCV000338358RCV000591409RCV004545766RCV004021968

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 SubmittersRCV000310856RCV000404576

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 SubmittersRCV000371829RCV000906829RCV003888837

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 SubmittersRCV000351728RCV000919470

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 SubmittersRCV000343727RCV002061264RCV003970024

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 SubmittersRCV000331903RCV001346375

NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn) SNV
Germline
Chr5:149944400 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Usher syndrome
Retinitis pigmentosa 43
Criteria Provided
Conflicting Classifications
CA3505097 rs_199924410

4 SubmittersRCV000401940RCV001417212RCV003389471RCV002470846

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 SubmittersRCV000287941RCV000347529

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 SubmittersRCV000277933RCV000333107RCV000354005RCV001090045

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
Condition: not provided
Cone-rod dystrophy 12
Criteria Provided
Conflicting Classifications
CA2866473 rs_372262346

2 SubmittersRCV000300221RCV000312096RCV000366791RCV001455863RCV000391793

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 SubmittersRCV000302494RCV000308385RCV000348076RCV000398666RCV000886518

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 SubmittersRCV000277946RCV000314370RCV000363164RCV000369060RCV000956181

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 SubmittersRCV000261455RCV000262727RCV000320164RCV000353950RCV002057918

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 SubmittersRCV000273099RCV000276686RCV000307126RCV000364245RCV002057920

NM_006017.3(PROM1):c.277-15C>T SNV
Germline
Chr4:16035776 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
CA2867123 rs_372599685

2 SubmittersRCV000289511RCV000332880RCV000389815RCV000381583RCV002057921

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 SubmittersRCV000273204RCV000308324RCV000363045RCV000400360RCV001439949

NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) SNV
Germline
Chr4:15979399 Conflicting classifications of pathogenicity Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2866319 rs_747844753

3 SubmittersRCV000261335RCV000318837RCV000353914RCV000375741RCV001861228RCV004955454

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
Cone-rod dystrophy 12
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2866416 rs_551849678

2 SubmittersRCV000283949RCV000339031RCV000399730RCV000399383RCV001442000

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 SubmittersRCV000272696RCV000309053RCV000357535RCV000363702RCV001513432

NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) SNV
Germline
Chr4:16000498 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal macular dystrophy type 2
Stargardt disease 4
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA2866732 rs_201870277

5 SubmittersRCV000283728RCV000322364RCV000323535RCV000594499RCV003888823

NM_006017.3(PROM1):c.1344C>T (p.Ile448=) SNV
Germline
Chr4:16006648 Conflicting classifications of pathogenicity Retinitis pigmentosa
Stargardt disease 4
Retinal macular dystrophy type 2
Condition: not provided
Cone-rod dystrophy 12
Retinal dystrophy
PROM1-related disorder
Criteria Provided
Conflicting Classifications
CA2866795 rs_147174580

5 SubmittersRCV000297263RCV000355570RCV000407818RCV000998227RCV000354443RCV003888824RCV004530407

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 SubmittersRCV000282344RCV000304480RCV000335053RCV000399717RCV002057919RCV003888825RCV004530408

NM_006017.3(PROM1):c.792G>A (p.Lys264=) SNV
Germline
Chr4:16018533 Conflicting classifications of pathogenicity Stargardt disease 4
Retinitis pigmentosa
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2866947 rs_776605111

2 SubmittersRCV000274554RCV000334145RCV000317930RCV000386341RCV003766007

NM_006017.3(PROM1):c.717C>T (p.Gly239=) SNV
Germline
Chr4:16023393 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
CA2866976 rs_763697898

2 SubmittersRCV000266664RCV000324190RCV000315947RCV000372846RCV001454692

NM_006017.3(PROM1):c.678G>A (p.Ala226=) SNV
Germline
Chr4:16024311 Conflicting classifications of pathogenicity Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA2867001 rs_187116049

3 SubmittersRCV000283971RCV000345958RCV000384160RCV000376482RCV000912093RCV003888827

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 SubmittersRCV000278099RCV000295776RCV000350668RCV000394477

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 SubmittersRCV000259686RCV000313534RCV000319521RCV000354399

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 SubmittersRCV000270453RCV000965193

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 SubmittersRCV000359518RCV001512241

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 SubmittersRCV000332836RCV002061265

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 SubmittersRCV000353155RCV002470845RCV001487723RCV003389470

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 SubmittersRCV000335431RCV001485133

NM_001379270.1(CNGA1):c.1407A>G (p.Thr469=) SNV
Germline
Chr4:47937075 Conflicting classifications of pathogenicity Retinitis pigmentosa
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2911084 rs_201553765

5 SubmittersRCV000379434RCV001700338RCV000916340

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 SubmittersRCV000398051RCV001511560

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 SubmittersRCV000406204RCV001317683RCV003888839RCV004022011

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 SubmittersRCV000309731RCV000362223RCV001861233

NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn) SNV
Germline
Chr4:634690 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
High myopia
Criteria Provided
Conflicting Classifications
CA2793978 rs_574098823

3 SubmittersRCV000332008RCV000288636RCV001436063RCV000785739

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 SubmittersRCV000282880RCV000379626RCV001340998

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 SubmittersRCV000310055RCV000343932RCV000895940RCV003888831

NM_000283.4(PDE6B):c.1108-9C>T SNV
Germline
Chr4:656865 Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA2794363 rs_200970775

2 SubmittersRCV000369296RCV000884408RCV000404686

NM_000283.4(PDE6B):c.1592G>A (p.Arg531Gln) SNV
Germline
Chr4:660591 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2794585 rs_144664551

3 SubmittersRCV000349329RCV000294425RCV001240311RCV003168538

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 SubmittersRCV000344856RCV000402966RCV003888833RCV002523475

NM_000283.4(PDE6B):c.2269-11C>T SNV
Germline
Chr4:666520 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2794987 rs_370169775

2 SubmittersRCV000383643RCV000347789RCV002057944

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 SubmittersRCV000303010RCV000392694RCV000931351RCV003888835

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 SubmittersRCV000274619RCV000369235RCV001044545

NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) SNV
Germline
Chr4:653879 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinitis pigmentosa 40
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA2794105 rs_780521818

6 SubmittersRCV000504695RCV000377308RCV001543444RCV001376332RCV004816597

NM_000283.4(PDE6B):c.852+12G>A SNV
Germline
Chr4:654004 Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA2794146 rs_201676629

2 SubmittersRCV000311171RCV001513143RCV000405497

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 SubmittersRCV000280451RCV000335547RCV001518693

NM_000283.4(PDE6B):c.2352+13C>T SNV
Germline
Chr4:666627 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2795018 rs_374527841

2 SubmittersRCV000384343RCV000329764RCV002057945

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 SubmittersRCV000323274RCV000378001RCV001520398

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 SubmittersRCV000259755RCV000317306

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 SubmittersRCV000343283RCV003556362

NM_001142800.2(EYS):c.7034G>A (p.Arg2345His) SNV
Germline
Chr6:63984404 Conflicting classifications of pathogenicity Retinitis pigmentosa 25
Retinitis pigmentosa
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3876855 rs_201304559

6 SubmittersRCV001833474RCV000401845RCV002524500RCV000998642

NM_001142800.2(EYS):c.4440A>G (p.Arg1480=) SNV
Germline
Chr6:64591427 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10622586 rs_886061675

3 SubmittersRCV000264005RCV001563749RCV000981921

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 SubmittersRCV000340905RCV000897845RCV001001967

NM_001142800.2(EYS):c.2613C>T (p.Asp871=) SNV
Germline
Chr6:64912512 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Criteria Provided
Conflicting Classifications
CA3877269 rs_192059823

7 SubmittersRCV000487561RCV000374194RCV001274984

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 SubmittersRCV000263219RCV000916299

NM_001142800.2(EYS):c.281C>A (p.Pro94Gln) SNV
Germline
Chr6:65495130 Conflicting classifications of pathogenicity not specified
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Criteria Provided
Conflicting Classifications
CA3878102 rs_111947397

7 SubmittersRCV001700091RCV000955361RCV000398864RCV001449944

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 SubmittersRCV000316639RCV000376000RCV000949146

NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala) SNV
Germline
Chr7:128400350 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided
IMPDH1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4471065 rs_144659635

7 SubmittersRCV000347099RCV000287544RCV000521919RCV004544684RCV003168555

NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val) SNV
Germline
Chr5:149860929 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
PDE6A-related disorder
Criteria Provided
Conflicting Classifications
CA3504232 rs_138315990

6 SubmittersRCV000306846RCV000414303RCV004816599RCV003932441

NM_000440.3(PDE6A):c.1954C>T (p.Arg652Cys) SNV
Germline
Chr5:149884552 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3504455 rs_199748187

3 SubmittersRCV000266622RCV003888836RCV000927531

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 SubmittersRCV000317078RCV000909706

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 SubmittersRCV000386640RCV002058515

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 SubmittersRCV000348073RCV001434091

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 SubmittersRCV000282797RCV001497572

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 SubmittersRCV000273676RCV001672657

NM_000440.3(PDE6A):c.1408-11G>A SNV
Germline
Chr5:149896787 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA3504691 rs_201527437

3 SubmittersRCV000307692RCV001513739RCV004816600

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 SubmittersRCV000360865RCV001234568

NM_000440.3(PDE6A):c.498G>A (p.Val166=) SNV
Germline
Chr5:149934695 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 43
Condition: not provided
Retinal dystrophy
not specified
Criteria Provided
Conflicting Classifications
CA3505029 rs_138274547

6 SubmittersRCV000296760RCV001287033RCV000964262RCV004816602RCV001700341

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 SubmittersRCV000350627RCV000398421RCV000945421

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 SubmittersRCV000289767RCV000344699RCV001516160

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 SubmittersRCV000305203RCV000359869RCV000945530

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 SubmittersRCV000265951RCV000288235RCV000324365RCV000328104RCV000358091RCV000384861

NM_000322.5(PRPH2):c.*797G>A SNV
Germline
Chr6:42697498 Conflicting classifications of pathogenicity Cone-rod dystrophy
Patterned macular dystrophy 1
Choroidal dystrophy, central areolar 2
Adult-onset foveomacular vitelliform dystrophy
Pigmentary retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA10623927 rs_188694434

1 SubmittersRCV000289095RCV000344096RCV000323813RCV000282855RCV000378833RCV000384684

NM_000322.5(PRPH2):c.1008C>T (p.Gly336=) SNV
Germline
Chr6:42698328 Conflicting classifications of pathogenicity Patterned macular dystrophy 1
Adult-onset foveomacular vitelliform dystrophy
Retinitis pigmentosa
Choroidal dystrophy, central areolar 2
PRPH2-related disorder
Cone-rod dystrophy
Pigmentary retinal dystrophy
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA3808464 rs_752365478

3 SubmittersRCV000290210RCV000341580RCV000345147RCV000305394RCV001424704RCV000407997RCV000376706RCV004816605

NM_000322.5(PRPH2):c.252C>T (p.Asp84=) SNV
Germline
Chr6:42722083 Conflicting classifications of pathogenicity Cone-rod dystrophy
Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa
PRPH2-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3808644 rs_139936445

3 SubmittersRCV000305456RCV000265544RCV000356577RCV000301917RCV000360203RCV000403799RCV001484194RCV003422345

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 SubmittersRCV000270730RCV000908799RCV003888844

NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) SNV
Germline
Chr6:63778167 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25
not specified
Criteria Provided
Conflicting Classifications
CA3876779 rs_191846522

7 SubmittersRCV000318554RCV001075262RCV000729238RCV001833473RCV001700089

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 SubmittersRCV000347421RCV001513650

NM_001142800.2(EYS):c.5140A>C (p.Thr1714Pro) SNV
Germline
Chr6:64590727 Conflicting classifications of pathogenicity Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA10624519 rs_201916371

4 SubmittersRCV001274974RCV000399578RCV000902508RCV004816608

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 SubmittersRCV000370347RCV002058625

NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr) SNV
Germline
Chr6:65057712 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
EYS-related disorder
Criteria Provided
Conflicting Classifications
CA3877329 rs_376807770

6 SubmittersRCV000284388RCV001277010RCV000914157RCV001074467RCV004751497

NM_001142800.2(EYS):c.1899A>G (p.Gln633=) SNV
Germline
Chr6:65295987 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA3877361 rs_373197894

5 SubmittersRCV000300630RCV001277012RCV000905514RCV001700090

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 SubmittersRCV000352873RCV001247398

NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) SNV
Germline
Chr6:65495320 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3878130 rs_572189652

4 SubmittersRCV000297438RCV001828353RCV000941634

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 SubmittersRCV000270099RCV001520329

NM_152419.3(HGSNAT):c.234+14C>G SNV
Germline
Chr8:43147077 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Condition: not provided
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Conflicting Classifications
CA4736451 rs_146429523

3 SubmittersRCV000263117RCV000514120RCV001514319

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 SubmittersRCV000391235RCV001402363RCV003957831

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 SubmittersRCV000278577RCV002061300

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 SubmittersRCV000305423RCV002524459

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 SubmittersRCV000299335RCV002058547

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 SubmittersRCV000404247RCV001513634RCV001803682

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 SubmittersRCV000389275RCV002058548

NM_006269.2(RP1):c.3198G>A (p.Glu1066=) SNV
Germline
Chr8:54627080 Conflicting classifications of pathogenicity Retinitis pigmentosa
RP1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4751657 rs_759707480

3 SubmittersRCV000342171RCV003922636RCV002524568

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 SubmittersRCV000268732RCV000914449

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 SubmittersRCV000326124RCV001513588

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 SubmittersRCV000349993RCV000971523RCV001700085

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 SubmittersRCV000287804RCV001861302RCV003888848

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 SubmittersRCV000267212RCV000361884RCV001454626

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 SubmittersRCV000334230RCV000388773RCV000878438RCV004530441

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 SubmittersRCV000376023RCV000584938RCV001591030RCV003230487

NM_000322.5(PRPH2):c.*1565G>A SNV
Germline
Chr6:42696730 Conflicting classifications of pathogenicity Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy
Cone-rod dystrophy
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy
Patterned macular dystrophy 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10626750 rs_41273818

2 SubmittersRCV000334298RCV000304416RCV000303237RCV000361524RCV000406284RCV000395085RCV003311779

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 SubmittersRCV000314388RCV002520416

NM_000322.5(PRPH2):c.*20C>T SNV
Germline
Chr6:42698275 Conflicting classifications of pathogenicity Retinitis pigmentosa
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Adult-onset foveomacular vitelliform dystrophy
Pigmentary retinal dystrophy
Cone-rod dystrophy
Criteria Provided
Conflicting Classifications
CA3808450 rs_180775924

1 SubmittersRCV000336826RCV000340291RCV000305101RCV000301789RCV000393145RCV000403264

NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) SNV
Germline
Chr6:42704544 Conflicting classifications of pathogenicity Pigmentary retinal dystrophy
Choroidal Dystrophy
Cone-Rod Dystrophy, Dominant
Retinitis Pigmentosa, Dominant
Patterned macular dystrophy 1
Condition: not provided
Vitelliform macular dystrophy
Patterned dystrophy of the retinal pigment epithelium
PRPH2-related disorder
Criteria Provided
Conflicting Classifications
CA3808563 rs_767471467

4 SubmittersRCV000267701RCV000271221RCV000326330RCV000362139RCV000311099RCV001530369RCV000365732RCV001250375RCV001318786

NM_000322.5(PRPH2):c.312C>T (p.Ile104=) SNV
Germline
Chr6:42722023 Conflicting classifications of pathogenicity Pigmentary retinal dystrophy
Adult-onset foveomacular vitelliform dystrophy
Patterned macular dystrophy 1
Cone-rod dystrophy
PRPH2-related disorder
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA3808636 rs_200009675

3 SubmittersRCV000309085RCV000295006RCV000349955RCV000363735RCV002058610RCV000406712RCV000406713RCV003888843

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 SubmittersRCV000313245RCV002058623

NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) SNV
Germline
Chr6:64591313 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 25
not specified
Condition: not provided
Autosomal recessive retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA3877071 rs_772339340

7 SubmittersRCV000390985RCV000625443RCV001699391RCV000935259RCV001274976

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 SubmittersRCV000342032RCV002058624

NM_001142800.2(EYS):c.1184+14T>C SNV
Germline
Chr6:65402464 Conflicting classifications of pathogenicity Retinitis pigmentosa
not specified
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA3877846 rs_182780299

4 SubmittersRCV000292057RCV000611732RCV001509797RCV004816609

NM_001142800.2(EYS):c.8233+8T>G SNV
Germline
Chr6:63726511 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA10627396 rs_886061666

3 SubmittersRCV002058622RCV000385930RCV004816606

NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile) SNV
Germline
Chr6:65402517 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3877857 rs_144935927

4 SubmittersRCV000382952RCV001277018RCV000969945

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 SubmittersRCV000361275RCV001426618

NM_001142800.2(EYS):c.-207A>G SNV
Germline
Chr6:65495868 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10627414 rs_370140172

3 SubmittersRCV000305805RCV001833477RCV001519650

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 SubmittersRCV000406722RCV000953058

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 SubmittersRCV000309985RCV000929860

NM_001142800.2(EYS):c.-337T>A SNV
Germline
Chr6:65639782 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
EYS-related disorder
Criteria Provided
Conflicting Classifications
CA10627418 rs_145321084

5 SubmittersRCV000328133RCV000838530RCV004751498

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 SubmittersRCV000332069RCV001519796

NM_001142800.2(EYS):c.-459C>T SNV
Germline
Chr6:65707146 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Criteria Provided
Conflicting Classifications
CA10627420 rs_144371265

6 SubmittersRCV000388981RCV001512978RCV000665930

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 SubmittersRCV000330833RCV000927926RCV004526670

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 SubmittersRCV000285673RCV001450307RCV003957843

NM_001142800.2(EYS):c.1950G>A (p.Ala650=) SNV
Germline
Chr6:65295936 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10627426 rs_565864295

3 SubmittersRCV000368743RCV001833476RCV000976441

NM_001142800.2(EYS):c.334G>C (p.Val112Leu) SNV
Germline
Chr6:65495077 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA3878094 rs_112609906

5 SubmittersRCV000337683RCV000917647RCV001277025RCV001074806

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 SubmittersRCV000392487RCV001513649

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 SubmittersRCV000362375RCV001279322RCV002058626

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 SubmittersRCV000373865RCV002058627

NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr) SNV
Germline
Chr6:79513531 Conflicting classifications of pathogenicity Leber congenital amaurosis 5
not specified
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3901128 rs_200395970

5 SubmittersRCV000400678RCV001553635RCV001199700RCV001861293

NM_152419.3(HGSNAT):c.111G>A (p.Pro37=) SNV
Germline
Chr8:43140607 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Conflicting Classifications
CA10627894 rs_886062953

2 SubmittersRCV000312412RCV002523684

NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) SNV
Germline
Chr8:43191582 Conflicting classifications of pathogenicity Sanfilippo syndrome
Inborn genetic diseases
Condition: not provided
Mucopolysaccharidosis, MPS-III-C
not specified
Retinitis pigmentosa 73
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA4736810 rs_201346206

12 SubmittersRCV000346177RCV002523685RCV001700100RCV001256203RCV001584092RCV001196774RCV001240733RCV004816619

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 SubmittersRCV000305785RCV001207739

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 SubmittersRCV000293744RCV001398376

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 SubmittersRCV000363032RCV000396001RCV001518880

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 SubmittersRCV000342291RCV000381950RCV002058652

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 SubmittersRCV000313500RCV000354378RCV002523582

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 SubmittersRCV000296114RCV000332038

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 SubmittersRCV000261438RCV000369708RCV003556363

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 SubmittersRCV000401701RCV000961167RCV003888712

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 SubmittersRCV000310963RCV000914525

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 SubmittersRCV000397627RCV000913373

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 SubmittersRCV000331213RCV000916692

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 SubmittersRCV000319334RCV000968658

NM_002900.3(RBP3):c.2619C>T (p.Ala873=) SNV
Germline
Chr10:47351103 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
not specified
Criteria Provided
Conflicting Classifications
CA5487234 rs_146045906

5 SubmittersRCV000971293RCV000369770RCV001700043

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 SubmittersRCV000334748RCV000608038RCV002056129RCV004577765

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 SubmittersRCV000315863RCV001355893RCV001528387RCV001796009

NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) SNV
Germline
Chr8:43140604 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
HGSNAT-related disorder
not specified
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10631133 rs_886062952

7 SubmittersRCV000273849RCV003932503RCV001699401RCV001083544RCV000675862

NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser) SNV
Germline
Chr8:43158617 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Inborn genetic diseases
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Conflicting Classifications
CA4736466 rs_368452647

3 SubmittersRCV000316013RCV004984855RCV002058735

NM_152419.3(HGSNAT):c.371+15T>A SNV
Germline
Chr8:43158726 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Conflicting Classifications
CA4736492 rs_372920077

2 SubmittersRCV000266373RCV003766091

NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys) SNV
Germline
Chr8:43140513 Conflicting classifications of pathogenicity Retinal dystrophy
Mucopolysaccharidosis, MPS-III-C
Inborn genetic diseases
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Conflicting Classifications
CA10631204 rs_867446205

5 SubmittersRCV003889869RCV000370676RCV004022074RCV000907228

NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) SNV
Germline
Chr8:43147034 Conflicting classifications of pathogenicity Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Retinitis pigmentosa 73
Criteria Provided
Conflicting Classifications
CA4736446 rs_202001245

5 SubmittersRCV000887168RCV000355499RCV003889870RCV004799207

NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) SNV
Germline
Chr8:43158682 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA4736487 rs_184883937

5 SubmittersRCV000372738RCV001083633RCV000675863RCV002222495

NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=) SNV
Germline
Chr8:43182212 Conflicting classifications of pathogenicity Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Conflicting Classifications
CA4736742 rs_757385876

2 SubmittersRCV002058736RCV000376064

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 SubmittersRCV000345598RCV002523686

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 SubmittersRCV000284891RCV000929928

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 SubmittersRCV000318287RCV000964485RCV003889873

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 SubmittersRCV000304815RCV001486186RCV003957561

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 SubmittersRCV000327534RCV000384966RCV001509849RCV003889874

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 SubmittersRCV000320988RCV002520590

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 SubmittersRCV000317370RCV001493698

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 SubmittersRCV000370821RCV000956821

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 SubmittersRCV000340217RCV002059551RCV003950008

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 SubmittersRCV000281267RCV001424779

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 SubmittersRCV000358605RCV001454452

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 SubmittersRCV000306182RCV000974253

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 SubmittersRCV000286245RCV000404169

NM_177965.4(CFAP418):c.528A>G (p.Thr176=) SNV
Germline
Chr8:95247713 Conflicting classifications of pathogenicity Retinitis pigmentosa
Cone-rod dystrophy 16
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA4815118 rs_143748636

5 SubmittersRCV000323905RCV000625262RCV000954269RCV001701000

NM_005802.5(TOPORS):c.2347G>C (p.Gly783Arg) SNV
Germline
Chr9:32542178 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5020385 rs_148620735

3 SubmittersRCV000340814RCV002058797RCV002523788

NM_152443.3(RDH12):c.570C>T (p.Ser190=) SNV
Germline
Chr14:67727102 Conflicting classifications of pathogenicity Leber congenital amaurosis
Leber congenital amaurosis 13
Retinitis pigmentosa
Retinitis Pigmentosa, Recessive
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7238750 rs_79869437

4 SubmittersRCV001275433RCV000951682RCV001109349RCV000346851RCV003888728

NM_152443.3(RDH12):c.701G>A (p.Arg234His) SNV
Germline
Chr14:67729233 Conflicting classifications of pathogenicity Retinitis pigmentosa
Macular dystrophy
Leber congenital amaurosis 13
Leber congenital amaurosis
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7238798 rs_750636662

9 SubmittersRCV000342637RCV000993746RCV001243727RCV001833459RCV003324525RCV001753776

NM_004183.4(BEST1):c.813C>T (p.Leu271=) SNV
Germline
Chr11:61958244 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Vitelliform macular dystrophy 2
Autosomal dominant vitreoretinochoroidopathy
Criteria Provided
Conflicting Classifications
CA6040859 rs_370397270

3 SubmittersRCV000337607RCV001483602RCV003888715RCV000282464RCV000399998

NM_004183.4(BEST1):c.954C>G (p.Ser318=) SNV
Germline
Chr11:61959897 Conflicting classifications of pathogenicity Autosomal dominant vitreoretinochoroidopathy
Retinitis pigmentosa
Condition: not provided
Vitelliform macular dystrophy 2
Criteria Provided
Conflicting Classifications
CA6040956 rs_144231113

2 SubmittersRCV000392100RCV000361992RCV001500896RCV000297886

NM_017791.3(FLVCR2):c.953-15C>T SNV
Germline
Chr14:75633614 Conflicting classifications of pathogenicity Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7278390 rs_188707531

2 SubmittersRCV000406478RCV003765829

NM_002900.3(RBP3):c.1806C>T (p.His602=) SNV
Germline
Chr10:47350290 Conflicting classifications of pathogenicity Retinitis pigmentosa
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5487423 rs_782049247

4 SubmittersRCV000273913RCV001729517RCV001429406

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 SubmittersRCV000362609RCV000900247

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 SubmittersRCV000387230RCV001517656RCV003930265

NM_002900.3(RBP3):c.3635C>T (p.Thr1212Ile) SNV
Germline
Chr10:47357348 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA5486997 rs_147796755

4 SubmittersRCV000336564RCV001514049RCV003888710

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 SubmittersRCV000347324RCV000397832RCV003888729

NM_144596.4(TTC8):c.799-11C>T SNV
Germline
Chr14:88861211 Conflicting classifications of pathogenicity Retinitis pigmentosa
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome
Criteria Provided
Conflicting Classifications
CA7302601 rs_768485587

2 SubmittersRCV000352180RCV000294859RCV002061168

NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) SNV
Germline
Chr14:88877325 Conflicting classifications of pathogenicity Retinitis pigmentosa
Bardet-Biedl syndrome
not specified
Bardet-Biedl syndrome 8
TTC8-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7302781 rs_199649536

6 SubmittersRCV000300734RCV000353073RCV001820932RCV001094375RCV003969880RCV003888732

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 SubmittersRCV000261360RCV002059552

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 SubmittersRCV000290120RCV001405063

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 SubmittersRCV000277626RCV001450861

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 SubmittersRCV000326768RCV001511061RCV002522157

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 SubmittersRCV000269261RCV001422700

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 SubmittersRCV000297928RCV001479563RCV003888709

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 SubmittersRCV000270779RCV001490330RCV004577763

NM_014249.4(NR2E3):c.264G>T (p.Gly88=) SNV
Germline
Chr15:71811784 Conflicting classifications of pathogenicity Enhanced S-cone syndrome
Retinitis Pigmentosa, Recessive
Enhanced S-cone syndrome
Retinitis pigmentosa 37
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7640273 rs_558123422

5 SubmittersRCV000274461RCV000331700RCV000673033RCV001121702RCV000944344RCV004816556

NM_014249.4(NR2E3):c.410C>T (p.Ser137Phe) SNV
Germline
Chr15:71812015 Conflicting classifications of pathogenicity Enhanced S-cone syndrome
Retinitis Pigmentosa, Recessive
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA7640308 rs_767828150

3 SubmittersRCV000297664RCV000369444RCV001069768RCV003888733RCV001119821

NM_014249.4(NR2E3):c.572-13C>T SNV
Germline
Chr15:71812323 Conflicting classifications of pathogenicity Enhanced S-cone syndrome
Retinitis Pigmentosa, Recessive
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7640352 rs_376114936

2 SubmittersRCV000281903RCV000334655RCV001118389RCV001850676

NM_014249.4(NR2E3):c.900G>A (p.Thr300=) SNV
Germline
Chr15:71813541 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Enhanced S-cone syndrome
not specified
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Goldmann-Favre syndrome
Criteria Provided
Conflicting Classifications
CA7640426 rs_184906734

5 SubmittersRCV000312701RCV000365213RCV000594181RCV000891564RCV001121908RCV003888734RCV001275382

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 SubmittersRCV000316892RCV000371512RCV001120006

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 SubmittersRCV000271341RCV000301674RCV000365778

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 SubmittersRCV000307440RCV000365727RCV000401519RCV000898905

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 SubmittersRCV000284563RCV000346536RCV000394745RCV001000612RCV001509871

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 SubmittersRCV000265453RCV000305613RCV000358016RCV000905009RCV003888737

NM_033100.4(CDHR1):c.783G>A (p.Pro261=) SNV
Germline
Chr10:84203123 Conflicting classifications of pathogenicity Cone-Rod Dystrophy, Recessive
Condition: not provided
Cone-rod dystrophy 15
Retinal dystrophy
not specified
Retinitis pigmentosa
Retinitis pigmentosa 65
Macular dystrophy, retinal, 5
CDHR1-related disorder
Optic atrophy
Criteria Provided
Conflicting Classifications
CA5579673 rs_147346345

19 SubmittersRCV000369498RCV000487554RCV000625429RCV000787811RCV000825304RCV001723886RCV003221895RCV003221896RCV004748711RCV004816533

NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) SNV
Germline
Chr16:1607245 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814853 rs_145267929

4 SubmittersRCV000407664RCV001073365RCV002502238

NM_001042432.2(CLN3):c.837+5G>A SNV
Germline
Chr16:28482621 Conflicting classifications of pathogenicity Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7980808 rs_756848924

7 SubmittersRCV000286126RCV000504683RCV000672125RCV001052203RCV003278764

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
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA8082497 rs_201186180

6 SubmittersRCV000307175RCV001000412RCV001519711RCV001699364RCV004816561

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 SubmittersRCV000376862RCV001092933RCV003888751

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 SubmittersRCV000278783RCV002056503RCV003920354

NM_001297.5(CNGB1):c.2862C>T (p.Tyr954=) SNV
Germline
Chr16:57901558 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA8082796 rs_763416913

2 SubmittersRCV001499720RCV000364464

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 SubmittersRCV000263840RCV002056505

NM_001297.5(CNGB1):c.1803C>A (p.Ser601=) SNV
Germline
Chr16:57919253 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA8083272 rs_201290058

2 SubmittersRCV001478643RCV000368970

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 SubmittersRCV000276667RCV002061205

NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu) SNV
Germline
Chr16:57923285 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA8083377 rs_145234666

5 SubmittersRCV000328036RCV000597493RCV001075314

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 SubmittersRCV000335048RCV001464675

NM_001297.5(CNGB1):c.412+8C>A SNV
Germline
Chr16:57962834 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa
Retinitis pigmentosa 45
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8083851 rs_185727761

6 SubmittersRCV000591254RCV000407586RCV000625380RCV001512416

NM_004183.4(BEST1):c.152+6G>T SNV
Germline
Chr11:61951964 Conflicting classifications of pathogenicity Vitelliform macular dystrophy 2
Retinitis pigmentosa
Condition: not provided
Autosomal dominant vitreoretinochoroidopathy
Criteria Provided
Conflicting Classifications
CA6040680 rs_764420497

2 SubmittersRCV000300302RCV000407510RCV001859813RCV000338835

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 SubmittersRCV000285910RCV000520732

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 SubmittersRCV000321567RCV002056555

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 SubmittersRCV000309571RCV002056557

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 SubmittersRCV000345387RCV000936553

NM_006445.4(PRPF8):c.1869G>C (p.Lys623Asn) SNV
Germline
Chr17:1677680 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA8272227 rs_200389505

5 SubmittersRCV000276040RCV001046592RCV004021691RCV004816564

NM_004183.4(BEST1):c.699A>G (p.Pro233=) SNV
Germline
Chr11:61957449 Conflicting classifications of pathogenicity Autosomal dominant vitreoretinochoroidopathy
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Vitelliform macular dystrophy 2
Criteria Provided
Conflicting Classifications
CA6040820 rs_760816505

3 SubmittersRCV000295807RCV000350763RCV003888714RCV001497445RCV000380916

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 SubmittersRCV000399347RCV001203436

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 SubmittersRCV000262451RCV001210788

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 SubmittersRCV000289957RCV000347294RCV000380964

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 SubmittersRCV000283711RCV000343358RCV000379251RCV001074745RCV003226280

NM_152443.3(RDH12):c.283C>T (p.Arg95Trp) SNV
Germline
Chr14:67725194 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 13
Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA7238660 rs_552516182

4 SubmittersRCV000381378RCV001850657RCV003888726RCV001109345

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 SubmittersRCV000408169RCV001510147RCV001109350

NM_152443.3(RDH12):c.662C>T (p.Thr221Ile) SNV
Germline
Chr14:67729194 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Leber congenital amaurosis
Inborn genetic diseases
Leber congenital amaurosis 13
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA7238787 rs_769317754

4 SubmittersRCV000302468RCV001275436RCV002520913RCV000955105RCV001111665

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 SubmittersRCV000389308RCV000952248

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 SubmittersRCV000260562RCV000332152RCV002520928

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 SubmittersRCV000302548RCV000359676RCV001118169RCV001483388

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 SubmittersRCV000333078RCV000389820RCV000900838RCV001119730RCV001275373

NM_014249.4(NR2E3):c.444T>C (p.Ala148=) SNV
Germline
Chr15:71812049 Conflicting classifications of pathogenicity Enhanced S-cone syndrome
Retinitis Pigmentosa, Recessive
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA7640311 rs_533192044

2 SubmittersRCV000271119RCV000368328RCV001449310RCV001121809

NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) SNV
Germline
Chr12:88089271 Conflicting classifications of pathogenicity Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa
Inborn genetic diseases
CEP290-related disorder
Criteria Provided
Conflicting Classifications
CA6712084 rs_139998038

11 SubmittersRCV000276434RCV000289191RCV000327895RCV000333827RCV000381363RCV000557002RCV001074452RCV001555535RCV001273076RCV001590930RCV002520840RCV004544543

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 SubmittersRCV000277113RCV000329872RCV000368076RCV000906619

NM_000326.5(RLBP1):c.228G>A (p.Ser76=) SNV
Germline
Chr15:89217238 Conflicting classifications of pathogenicity Pigmentary retinal dystrophy
Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7722351 rs_202116993

2 SubmittersRCV000301015RCV000398049RCV000335975RCV001458043

NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) SNV
Germline
Chr16:1520225 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7813040 rs_571556177

4 SubmittersRCV000278956RCV002487400RCV003165856

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 SubmittersRCV000261856RCV000319418RCV000371926RCV002057520

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 SubmittersRCV000283255RCV000342965RCV000377666

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 SubmittersRCV000307672RCV000361147RCV000401185

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 SubmittersRCV000282067RCV000337066RCV000395396

NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) SNV
Germline
Chr16:1589637 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814576 rs_369671309

4 SubmittersRCV000405837RCV002494998RCV003243074

NM_014714.4(IFT140):c.685G>A (p.Ala229Thr) SNV
Germline
Chr16:1589730 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814606 rs_555382397

4 SubmittersRCV000301773RCV002494999RCV002522825

NM_015629.3(PRPF31):c.-187C>A SNV
Germline
Chr19:54115619 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Dominant
Condition: not provided
Criteria Provided
Conflicting Classifications
CA309318693 rs_45619231

2 SubmittersRCV000302480RCV002292527

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 SubmittersRCV000389451RCV002057527

NM_025114.4(CEP290):c.503G>A (p.Arg168His) SNV
Germline
Chr12:88130558 Conflicting classifications of pathogenicity Joubert syndrome 5
Retinitis pigmentosa
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Senior-Loken syndrome 6
Meckel syndrome, type 4
not specified
Retinal dystrophy
Leber congenital amaurosis 10
CEP290-related disorder
Bardet-Biedl syndrome 14
Criteria Provided
Conflicting Classifications
CA6712768 rs_200063017

7 SubmittersRCV000263394RCV000787814RCV000637006RCV001275046RCV000373256RCV000355828RCV003330639RCV003888725RCV000316286RCV004537752RCV000285505

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 SubmittersRCV000347016RCV001423796

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 SubmittersRCV000260091RCV001423091

NM_006899.5(IDH3B):c.252C>T (p.His84=) SNV
Germline
Chr20:2663531 Conflicting classifications of pathogenicity Retinitis pigmentosa
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9735335 rs_139159095

4 SubmittersRCV000383200RCV001700070RCV001523369

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 SubmittersRCV000364070RCV001358311RCV002522880RCV003922352

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 SubmittersRCV000380180RCV001519492RCV003888753

NM_001297.5(CNGB1):c.2850C>T (p.Ile950=) SNV
Germline
Chr16:57901570 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
CNGB1-related disorder
Criteria Provided
Conflicting Classifications
CA8082801 rs_563734833

3 SubmittersRCV000301994RCV001511923RCV004757995

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 SubmittersRCV000359095RCV002056504RCV003972366

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 SubmittersRCV000288196RCV001458432

NM_001297.5(CNGB1):c.2098C>T (p.Leu700Phe) SNV
Germline
Chr16:57917336 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 45
Criteria Provided
Conflicting Classifications
CA8083178 rs_181974243

3 SubmittersRCV000405494RCV001451609RCV001000732

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 SubmittersRCV000300738RCV001522874RCV003888757RCV003969905

NM_001297.5(CNGB1):c.1275C>G (p.Ala425=) SNV
Germline
Chr16:57939527 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
not specified
CNGB1-related disorder
Criteria Provided
Conflicting Classifications
CA8083486 rs_376016716

5 SubmittersRCV000313594RCV001517349RCV001700058RCV004757996

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 SubmittersRCV000266798RCV001523531

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 SubmittersRCV000309330RCV001000923RCV001430950RCV002522881RCV003910216

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 SubmittersRCV000264840RCV001518526RCV003888760RCV003969906

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 SubmittersRCV000291159RCV002057752

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 SubmittersRCV000300514RCV001517956

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 SubmittersRCV000394787RCV001503011

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 SubmittersRCV000336474RCV001492737

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 SubmittersRCV000399384RCV002056556

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 SubmittersRCV000273579RCV003727676

NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser) SNV
Germline
Chr17:1679645 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Dominant
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA8272407 rs_142411659

4 SubmittersRCV000282758RCV001055390RCV004816565

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 SubmittersRCV000349213RCV001447736

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 SubmittersRCV000260674RCV000355596

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 SubmittersRCV000313262RCV000402357RCV001699358

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 SubmittersRCV000273618RCV000389074

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 SubmittersRCV000353116RCV001111670

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 SubmittersRCV000271838RCV001373667

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 SubmittersRCV000320971RCV002522332

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 SubmittersRCV000398754RCV000507639RCV001795944RCV003888772

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 SubmittersRCV000277486RCV001423361

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 SubmittersRCV000279037RCV000886701

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 SubmittersRCV000283045RCV000395762

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 SubmittersRCV000263799RCV000316870RCV000387721

NM_144596.4(TTC8):c.5G>A (p.Ser2Asn) SNV
Germline
Chr14:88824712 Conflicting classifications of pathogenicity Retinitis pigmentosa
Bardet-Biedl syndrome 8
Retinal dystrophy
Bardet-Biedl syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7302304 rs_199571677

4 SubmittersRCV000304181RCV000360976RCV003888731RCV001859883RCV004678676

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 SubmittersRCV000270465RCV000306814RCV000369874

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 SubmittersRCV000300735RCV000355535RCV000400033

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 SubmittersRCV000263140RCV000373889RCV001519327

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 SubmittersRCV000303540RCV000399136RCV000887757RCV001118292

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
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7640315 rs_371853056

4 SubmittersRCV000328481RCV000362162RCV001121810RCV001055090RCV004955417

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 SubmittersRCV000286075RCV000324799RCV000377048RCV000965306

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
not specified
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7722327 rs_143817941

5 SubmittersRCV000290055RCV000328618RCV000381007RCV001726111RCV003888736RCV000906178

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 SubmittersRCV000269106RCV000308882RCV000365930RCV000728603RCV001699363

NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) SNV
Germline
Chr16:1587968 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7814525 rs_145858131

5 SubmittersRCV000281495RCV003165857RCV002487403RCV004752852

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 SubmittersRCV000346557RCV002495000

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 SubmittersRCV000369084RCV001203836RCV003888735

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 SubmittersRCV000261796RCV000316533RCV000373444RCV000904552RCV004537790

NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) SNV
Germline
Chr16:56496983 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA8065597 rs_200021475

6 SubmittersRCV000326249RCV001094468RCV002487413RCV004816560

NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) SNV
Germline
Chr16:1510952 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7812764 rs_201065562

4 SubmittersRCV000334851RCV002494994RCV002520984

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 SubmittersRCV000389559RCV003335305

NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) SNV
Germline
Chr16:1520660 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Microcephaly
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7813098 rs_147292597

5 SubmittersRCV000362113RCV001252753RCV002494995RCV003888738

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 SubmittersRCV000323178RCV001511237

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 SubmittersRCV000304973RCV002521059

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 SubmittersRCV000334121RCV002061206

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 SubmittersRCV000393811RCV001519638

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 SubmittersRCV000268503RCV000755935

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 SubmittersRCV000304581RCV001477123

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 SubmittersRCV000313088RCV001520986

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 SubmittersRCV000374100RCV000960074RCV003920355

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 SubmittersRCV000272670RCV000755934

NM_001297.5(CNGB1):c.2700G>A (p.Thr900=) SNV
Germline
Chr16:57903916 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 45
Criteria Provided
Conflicting Classifications
CA8082855 rs_72782250

4 SubmittersRCV000324085RCV000955137RCV001001677

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 SubmittersRCV000330684RCV001427439

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 SubmittersRCV000287088RCV001403518

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
Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA9544368 rs_139340178

7 SubmittersRCV000280624RCV000401704RCV000878021RCV000787830RCV001087610RCV004816570

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 SubmittersRCV000271568RCV000328839RCV000363813

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 SubmittersRCV000278381RCV000351076RCV000389164

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 SubmittersRCV000295144RCV000335037RCV000389522

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 SubmittersRCV000293184RCV002521251

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 SubmittersRCV000304059RCV003765908

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 SubmittersRCV000272373RCV002057531

NM_006899.5(IDH3B):c.916-10C>T SNV
Germline
Chr20:2659803 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
IDH3B-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA9735135 rs_202127751

4 SubmittersRCV000318929RCV002057730RCV003932348RCV004816585

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 SubmittersRCV000386679RCV000591163

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 SubmittersRCV000285493RCV001408455

NM_006445.4(PRPF8):c.283A>G (p.Met95Val) SNV
Germline
Chr17:1682280 Conflicting classifications of pathogenicity Inborn genetic diseases
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8272663 rs_373157040

3 SubmittersRCV002522915RCV000397001RCV002061216

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 SubmittersRCV000283429RCV000323291RCV000380213

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 SubmittersRCV000267113RCV000361638RCV000878128RCV001087156

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 SubmittersRCV000276531RCV000326868RCV000381302

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 SubmittersRCV000259688RCV000317213RCV000355617

NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) SNV
Germline
Chr17:38327594 Conflicting classifications of pathogenicity Congenital stationary night blindness 1E
Condition: not provided
Retinitis pigmentosa
not specified
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA10650013 rs_200936863

9 SubmittersRCV000625275RCV000730168RCV000787911RCV001706517RCV004816567

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 SubmittersRCV000359036RCV002057754

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 SubmittersRCV000366585RCV000757049RCV003888774RCV003940282

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 SubmittersRCV000277065RCV000298029RCV000369144

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 SubmittersRCV000280028RCV000351354RCV000372318

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 SubmittersRCV000290656RCV000340884RCV000395852

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 SubmittersRCV000302382RCV000310663RCV000398512

NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) SNV
Germline
Chr17:6426662 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8328414 rs_138585919

4 SubmittersRCV000332251RCV000385713RCV000981801RCV001075005RCV003456394

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 SubmittersRCV000284443RCV000339003RCV000403542

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 SubmittersRCV000283331RCV000340719RCV000383663

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 SubmittersRCV000303339RCV001462884

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 SubmittersRCV000293631RCV000348576RCV000401350

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 SubmittersRCV000311981RCV000352814RCV000390415

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 SubmittersRCV000279799RCV000318530RCV000372070

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 SubmittersRCV000335195RCV002057528

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 SubmittersRCV000342676RCV002057529

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 SubmittersRCV000347329RCV002523154

NM_012469.4(PRPF6):c.57G>A (p.Pro19=) SNV
Germline
Chr20:63981302 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9971774 rs_779283679

2 SubmittersRCV000323532RCV004597784

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 SubmittersRCV000383164RCV002057751

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 SubmittersRCV000313487RCV001513252RCV003932358

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 SubmittersRCV000381203RCV000914708RCV003888815

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 SubmittersRCV000408517RCV001782861RCV002524611

NM_001297.5(CNGB1):c.2893-7G>A SNV
Germline
Chr16:57901442 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 45
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA8082767 rs_749199721

6 SubmittersRCV000513315RCV000408898RCV001199469RCV004816631

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
Retinitis pigmentosa 61
Usher syndrome type 3A
Retinitis pigmentosa 61
Criteria Provided
Multiple Submitters
No Conflicts
CA2666003 rs_373208120

5 SubmittersRCV000408993RCV001065581RCV001273480RCV002502431RCV003470355

NM_001173990.3(TMEM216):c.35-2A>G SNV
Germline
Chr11:61393229 Likely pathogenic Meckel syndrome, type 2
Joubert syndrome 2
Familial aplasia of the vermis
RETINITIS PIGMENTOSA 98
Criteria Provided
Multiple Submitters
No Conflicts
CA16041470 rs_1057517528

4 SubmittersRCV000409368RCV000410496RCV002524628RCV004776284

NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) SNV
Germline
Chr11:66515586 Pathogenic/Likely pathogenic Retinal dystrophy
Bardet-Biedl syndrome 1
Condition: not provided
Retinitis pigmentosa
Bardet-Biedl syndrome
BBS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA6123351 rs_376894444

17 SubmittersRCV001074216RCV000411434RCV001092069RCV000504813RCV001387773RCV003922662

NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) SNV
Germline
Chr16:56501014 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Bardet-Biedl syndrome
Condition: not provided
Retinal dystrophy
BBS2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA8065780 rs_147030232

13 SubmittersRCV000411465RCV000762966RCV001069542RCV001571149RCV003889878RCV004530497

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 SubmittersRCV000412996RCV001074515RCV003449036

NM_206933.4(USH2A):c.486-14G>A SNV
Germline
Chr1:216418693 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
CA1396771 rs_374536346

11 SubmittersRCV000673542RCV001075754RCV000414183RCV001828379RCV000678652

NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) SNV
Germline
Chr1:197427831 Pathogenic/Likely pathogenic not specified
Leber congenital amaurosis 1
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Condition: not provided
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
CA1312130 rs_116471343

11 SubmittersRCV000414087RCV000986491RCV001073689RCV001064315RCV001376383RCV001810876RCV003137989RCV004739713RCV003475999

NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter) SNV
Germline
Chr1:94060709 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 19
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA16042332 rs_865990202

6 SubmittersRCV000414150RCV001353030RCV004816637

NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp) SNV
Germline
Chr1:197477719 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Criteria Provided
Conflicting Classifications
CA1312549 rs_760100325

3 SubmittersRCV000414607RCV001207041RCV001828387

NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter) SNV
Germline
Chr1:94062680 Pathogenic Condition: not provided
Retinitis pigmentosa 19
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA16042375 rs_1057517700

5 SubmittersRCV000414682RCV002272222RCV004816636

NM_000188.3(HK1):c.1370C>T (p.Thr457Met) SNV
Germline
Chr10:69382591 Pathogenic/Likely pathogenic Condition: not provided
Charcot-Marie-Tooth disease type 4G
Hemolytic anemia due to hexokinase deficiency
Retinitis pigmentosa 79
Neurodevelopmental disorder with visual defects and brain anomalies
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA16042708 rs_1057517928

9 SubmittersRCV000413860RCV000763213RCV000850129RCV001266327

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 SubmittersRCV000414027RCV001389727

NM_000329.3(RPE65):c.1338+1G>A SNV
Germline
Chr1:68431281 Pathogenic Abnormality of vision
Abnormal electroretinogram
Congenital blindness
Retinal degeneration
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA16043370 rs_1057518922

4 SubmittersRCV000415360RCV001066256RCV001198362RCV003470368RCV004816644

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 SubmittersRCV000415244RCV001198950

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 SubmittersRCV000415370RCV001196626

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 SubmittersRCV000414787RCV001196627RCV003401407

NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter) SNV
Germline
Chr8:43192413 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Criteria Provided
Multiple Submitters
No Conflicts
CA16043726 rs_1057518644

3 SubmittersRCV000415469RCV002521465

NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) SNV
Germline
Chr1:68446825 Pathogenic Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
RPE65-related disorder
Leber congenital amaurosis
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Retinal dystrophy
Reviewed By Expert Panel
CA902588 rs_368088025

13 SubmittersRCV000416243RCV000528380RCV000787883RCV001249416RCV001275339RCV002466496RCV003470371RCV003889879

NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) SNV
Germline
Chr1:215970699 Conflicting classifications of pathogenicity not specified
Condition: not provided
USH2A-related disorder
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Conflicting Classifications
CA1395009 rs_768253909

8 SubmittersRCV000602087RCV000416248RCV003330661RCV003389472RCV001271992RCV004816648RCV002488860

NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter) SNV
Germline
Chr1:215759786 Pathogenic Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA16043841 rs_1057519193

7 SubmittersRCV000416074RCV000671186RCV001074930RCV003449039RCV003449038

NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe) SNV
Germline
Chr1:197429518 Conflicting classifications of pathogenicity Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Inborn genetic diseases
Leber congenital amaurosis
Leber congenital amaurosis 8
Criteria Provided
Conflicting Classifications
CA1312198 rs_140648074

6 SubmittersRCV000415891RCV001270085RCV001563885RCV001242512RCV002521478RCV001828390RCV001563884

NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) SNV
Germline
Chr1:94108649 Conflicting classifications of pathogenicity Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Criteria Provided
Conflicting Classifications
CA958855 rs_138359497

4 SubmittersRCV000416105RCV000764208

NM_014053.4(FLVCR1):c.1092+5G>A SNV
Germline
Chr1:212883443 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
FLVCR1-related disorder
Posterior column ataxia-retinitis pigmentosa syndrome
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA1386046 rs_556788423

14 SubmittersRCV000415829RCV001075766RCV003418102RCV000986509RCV003324526

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 SubmittersRCV000415663RCV001377424

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 SubmittersRCV000423345RCV000764149RCV004022273

NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) SNV
Germline
Chr1:215680159 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA1393508 rs_759898765

9 SubmittersRCV001073281RCV000435312RCV003449048RCV001271125

NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) SNV
Germline
Chr1:216324269 Pathogenic Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA16603533 rs_397517979

12 SubmittersRCV000438959RCV000667167RCV000589870RCV001833524RCV004816656

NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) SNV
Germline
Chr1:215970645 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa
Retinal dystrophy
USH2A-related disorder
Usher syndrome type 2A
Usher syndrome
Cone-rod dystrophy 3
Criteria Provided
Multiple Submitters
No Conflicts
CA1394996 rs_199840367

15 SubmittersRCV000432643RCV001095706RCV001003268RCV001074794RCV004533027RCV003992295RCV002271497RCV002272234

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 SubmittersRCV000438611RCV001075185RCV001723980

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 SubmittersRCV000430954RCV000787485RCV001074641

NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His) SNV
Germline
Chr1:94001071 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA16044110 rs_1057520213

5 SubmittersRCV000432926RCV001074499RCV004586705

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
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Age related macular degeneration 2
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA957222 rs_371489809

6 SubmittersRCV000421632RCV002289547RCV002480281RCV003224874RCV004816654

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
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Criteria Provided
Conflicting Classifications
CA958502 rs_752786160

9 SubmittersRCV000429156RCV000779006RCV001074731RCV002272229RCV002250625RCV004819223

NM_015662.3(IFT172):c.1525-6C>G SNV
Germline
Chr2:27471101 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Criteria Provided
Conflicting Classifications
CA1580594 rs_201231401

5 SubmittersRCV000433325RCV000877807RCV001727724RCV002506060

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 SubmittersRCV000428220RCV001865399

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 SubmittersRCV000420574RCV000951825RCV001572918

NM_201548.5(CERKL):c.157G>A (p.Glu53Lys) SNV
Germline
Chr2:181656850 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 26
CERKL-related disorder
Criteria Provided
Conflicting Classifications
CA2010938 rs_141389059

5 SubmittersRCV000419430RCV001138252RCV001271350RCV004755919

NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln) SNV
Germline
Chr2:29071398 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
PCARE-related disorder
Criteria Provided
Conflicting Classifications
CA1592097 rs_184249075

7 SubmittersRCV000424122RCV001143262RCV003889890RCV003902595

NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) SNV
Germline
Chr4:16009051 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 12
Retinitis pigmentosa
Retinal macular dystrophy type 2
Stargardt disease 4
Criteria Provided
Conflicting Classifications
CA2866836 rs_140682455

3 SubmittersRCV000431346RCV001147772RCV001147774RCV001147773RCV001151114

NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) SNV
Germline
Chr4:660579 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 40
Congenital stationary night blindness autosomal dominant 2
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA2794577 rs_760766981

9 SubmittersRCV000427120RCV000504854RCV000845026RCV001154208RCV004816655

NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr) SNV
Germline
Chr11:61959997 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant vitreoretinochoroidopathy
Vitelliform macular dystrophy 2
Retinitis pigmentosa
Autosomal recessive bestrophinopathy
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA6040973 rs_147409760

8 SubmittersRCV001060186RCV001106450RCV001105324RCV001105325RCV002466499RCV003889889

NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) SNV
Germline
Chr6:63984462 Pathogenic/Likely pathogenic Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA16609553 rs_1060499783

9 SubmittersRCV000454133RCV001003017RCV001242418RCV003889894

NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) SNV
Germline
Chr2:112022343 Conflicting classifications of pathogenicity not specified
Condition: not provided
Retinitis pigmentosa 38
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA1831830 rs_141361084

8 SubmittersRCV000454548RCV000727047RCV001331567RCV004816671

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 SubmittersRCV000473079RCV001591081

NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala) SNV
Germline
ChrX:38287906 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Macular degeneration, X-linked atrophic
X-linked cone-rod dystrophy 1
Retinitis pigmentosa 3
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10385420 rs_768169831

4 SubmittersRCV000468234RCV002496810RCV003128244

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 SubmittersRCV000477721RCV001851127

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 SubmittersRCV000477673RCV001865419

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 SubmittersRCV000477725RCV002525736

NM_001367823.1(ARHGEF18):c.2181+5G>A SNV
Germline
Chr19:7456408 Pathogenic/Likely pathogenic Retinitis pigmentosa 78 No Assertion Criteria Provided
CA16616865 rs_1064793002

2 SubmittersRCV000477671

NM_177965.4(CFAP418):c.244-2A>C SNV
Germline
Chr8:95260534 Pathogenic/Likely pathogenic Retinitis pigmentosa 64
CFAP418-related disorder
No Assertion Criteria Provided
CA16616877 rs_1060505042

2 SubmittersRCV000477709RCV004730951

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 SubmittersRCV000477743RCV001379170

NM_000539.3(RHO):c.491C>T (p.Ala164Val) SNV
Germline
Chr3:129531005 Pathogenic/Likely pathogenic Congenital stationary night blindness autosomal dominant 1
Cone-rod dystrophy
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 4
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA16616904 rs_104893793

5 SubmittersRCV000477900RCV000787681RCV000787680RCV001229601RCV001265187RCV003889904

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 SubmittersRCV000479860RCV004568190

NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter) SNV
Germline
Chr1:215888482 Pathogenic Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA1394674 rs_200712760

7 SubmittersRCV000984317RCV000485043RCV000984316RCV004816688

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 SubmittersRCV000486199RCV003446078RCV003464018

NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter) SNV
Germline
Chr1:216199931 Pathogenic/Likely pathogenic Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA16617060 rs_1064793745

4 SubmittersRCV000485380RCV000674309RCV003449188RCV003449187

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 SubmittersRCV000480360RCV000504759RCV001074179RCV003463976

NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln) SNV
Germline
Chr1:46192174 Conflicting classifications of pathogenicity Condition: not provided
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Criteria Provided
Conflicting Classifications
CA833361 rs_766382416

4 SubmittersRCV000479982RCV000984206RCV000984208RCV000984207RCV000984209RCV001368114RCV002525910

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 SubmittersRCV000483369RCV000515665

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 SubmittersRCV000483805RCV001828508RCV003889907

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
Retinal dystrophy
Retinitis pigmentosa
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

9 SubmittersRCV000480079RCV000505013RCV000505174RCV000504782RCV000805545RCV001542748RCV001805096RCV002313243

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
Inborn genetic diseases
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9
CC2D2A-related disorder
Criteria Provided
Conflicting Classifications
CA2864468 rs_199695154

6 SubmittersRCV000479727RCV001053315RCV002525868RCV002496867RCV004541523

NM_000440.3(PDE6A):c.2038A>G (p.Met680Val) SNV
Germline
Chr5:149883526 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3504419 rs_148598583

4 SubmittersRCV000485029RCV001156327RCV004955534

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 SubmittersRCV000479816RCV001075073RCV001250369

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 SubmittersRCV000482305RCV001250297

NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly) SNV
Germline
Chr6:64081880 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 25
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3876904 rs_368458853

4 SubmittersRCV000484804RCV001272974RCV004619303

NM_001142800.2(EYS):c.2137+1G>A SNV
Germline
Chr6:65057613 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
EYS-related disorder
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA3877324 rs_199740930

20 SubmittersRCV000484533RCV000763559RCV000779518RCV003392308RCV004816694

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 SubmittersRCV000486623RCV001376364

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 SubmittersRCV000482552RCV003889908RCV002496876

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 SubmittersRCV000478090RCV000626050RCV001074815RCV001865466RCV003330719

NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) SNV
Germline
Chr8:43199541 Conflicting classifications of pathogenicity Condition: not provided
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Intellectual disability
not specified
Inborn genetic diseases
Retinal dystrophy
HGSNAT-related disorder
Criteria Provided
Conflicting Classifications
CA4737042 rs_192857413

8 SubmittersRCV000478941RCV000625332RCV000802522RCV001252520RCV002271509RCV002526563RCV004816691RCV004751559

NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) SNV
Germline
Chr10:69382555 Pathogenic/Likely pathogenic Condition: not provided
Neurodevelopmental disorder with visual defects and brain anomalies
Retinitis pigmentosa 79
Retinitis pigmentosa
Inborn genetic diseases
Hemolytic anemia due to hexokinase deficiency
Autism spectrum disorder
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA16618972 rs_1064794848

16 SubmittersRCV000483739RCV000850128RCV001254702RCV001270352RCV001266687RCV001770372RCV003126749RCV004816693

NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) SNV
Germline
Chr16:28477620 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis
Retinal dystrophy
Neuronal ceroid lipofuscinosis 3
Criteria Provided
Multiple Submitters
No Conflicts
CA7980640 rs_139842473

15 SubmittersRCV000487188RCV000504756RCV000559381RCV001075708RCV001253588

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 SubmittersRCV000483160RCV001294190

NM_006915.3(RP2):c.8G>C (p.Cys3Ser) SNV
Germline
ChrX:46837108 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 2
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA10394159 rs_782344765

5 SubmittersRCV000479201RCV002470866RCV004816687

NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) SNV
Germline
Chr10:69398758 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 79
HK1-related disorder
See cases
Criteria Provided
Multiple Submitters
No Conflicts
CA5532875 rs_777849213

11 SubmittersRCV001064496RCV001075827RCV000487470RCV004740261RCV004584389

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 SubmittersRCV000722053RCV000578475RCV001003221

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 SubmittersRCV000488409RCV001199614

NM_201253.3(CRB1):c.481G>A (p.Ala161Thr) SNV
Germline
Chr1:197328832 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Conflicting Classifications
CA16621582 rs_1064797126

3 SubmittersRCV000488223RCV001591128RCV001072005

NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) SNV
Germline
Chr1:215878800 Pathogenic/Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA16621590 rs_1064797134

7 SubmittersRCV000667007RCV001834579RCV000488256RCV003449252RCV004816701

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 SubmittersRCV000488016RCV001199794

NM_001297.5(CNGB1):c.2794+1G>A SNV
Germline
Chr16:57903821 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 45
Retinitis pigmentosa
CNGB1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA8082831 rs_770011113

7 SubmittersRCV000487966RCV001074635RCV001725185RCV001199466RCV004758021

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 SubmittersRCV000487590RCV001199814RCV003470592

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 SubmittersRCV000487749RCV001724026

NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter) SNV
Germline
Chr4:654113 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 40
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
CA16621814 rs_1064797304

2 SubmittersRCV000488380RCV001293398RCV001199718

NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) SNV
Germline
Chr4:15991259 Conflicting classifications of pathogenicity Condition: not provided
Retinal macular dystrophy type 2
Retinitis pigmentosa 41
Stargardt disease 4
Cone-rod dystrophy 12
Cone-rod dystrophy
Cone-rod dystrophy 12
Retinitis pigmentosa 41
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA2866577 rs_761911901

9 SubmittersRCV000487979RCV000765764RCV001199723RCV003236583RCV003338612RCV004816708

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 SubmittersRCV000487578RCV001199703RCV003155209

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 SubmittersRCV000487546RCV001199691

NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) SNV
Germline
Chr6:64439254 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 25
EYS-related disorder
Criteria Provided
Conflicting Classifications
CA3876985 rs_188093810

10 SubmittersRCV000488090RCV001073586RCV001161045RCV003144285RCV003932793

NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) SNV
Germline
Chr8:10608139 Conflicting classifications of pathogenicity Condition: not provided
Occult macular dystrophy
Autosomal recessive retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA4623490 rs_200846354

6 SubmittersRCV000487849RCV000988031RCV001257841RCV004816711

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 SubmittersRCV000487612RCV001075427RCV001199550

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 SubmittersRCV000488877RCV002527018

NM_005869.4(CWC27):c.943G>T (p.Glu315Ter) SNV
Germline
Chr5:64885447 Pathogenic Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome No Assertion Criteria Provided
CA359961278 rs_1085307447

1 SubmittersRCV000488874

NM_005869.4(CWC27):c.617C>A (p.Ser206Ter) SNV
Germline
Chr5:64788968 Pathogenic Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome No Assertion Criteria Provided
CA3282024 rs_781702398

1 SubmittersRCV000488878

NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp) SNV
Germline
Chr1:197427826 Pathogenic/Likely pathogenic Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
CA344037829 rs_1085307972

4 SubmittersRCV000488946RCV001834593RCV001851320RCV003449262RCV003449263

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 SubmittersRCV000489654RCV001353028

NM_003322.6(TULP1):c.1063G>A (p.Asp355Asn) SNV
Germline
Chr6:35505790 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
TULP1-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA363779723 rs_1085307806

5 SubmittersRCV000489746RCV001249894RCV004735570RCV004767299

NM_152419.3(HGSNAT):c.1634C>A (p.Thr545Lys) SNV
Germline
Chr8:43197860 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
not specified
Criteria Provided
Conflicting Classifications
CA4736988 rs_377050184

3 SubmittersRCV000489607RCV001359580RCV004701547

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 SubmittersRCV000523592RCV000722056

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
Retinitis pigmentosa 12
Retinal dystrophy
CRB1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA344041407 rs_62645747

8 SubmittersRCV000515691RCV000986493RCV001250609RCV001389640RCV001836643RCV003449270RCV003987563RCV004740266

NM_206933.4(USH2A):c.11389+3A>T SNV
Germline
Chr1:215758592 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA1393757 rs_753886165

7 SubmittersRCV000515699RCV001376314RCV001074399RCV001386131

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 SubmittersRCV000515733RCV001245608RCV003766756

NM_000329.3(RPE65):c.1101A>G (p.Arg367=) SNV
Germline
Chr1:68438214 Pathogenic Leber congenital amaurosis
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Reviewed By Expert Panel
CA418279061 rs_1553152989

6 SubmittersRCV000515747RCV002248718RCV001865522RCV004527377

NM_001034853.2(RPGR):c.1572+3A>T SNV
Germline
ChrX:38290956 Pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA658658968 rs_1555962831

1 SubmittersRCV000515735

NM_006915.3(RP2):c.102G>A (p.Lys34=) SNV
Germline
ChrX:46837202 Likely pathogenic Leber congenital amaurosis
Condition: not provided
Retinitis pigmentosa 3
Criteria Provided
Multiple Submitters
No Conflicts
CA516252066 rs_1556313552

3 SubmittersRCV000515686RCV001051097RCV000990803

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

12 SubmittersRCV000492059RCV000504995RCV000504803RCV001075775RCV001091473RCV001376208RCV003409679

NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) SNV
Germline
Chr1:215650716 Pathogenic Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Usher syndrome
Retinal degeneration
Retinal dystrophy
Retinitis pigmentosa 39
Reviewed By Expert Panel
CA1393090 rs_539192853

11 SubmittersRCV000492984RCV000787725RCV001073605RCV001252667RCV002226464RCV003126756

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 SubmittersRCV000494028RCV003449387RCV003464064

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
Bardet-Biedl syndrome 8
Retinitis pigmentosa
TTC8-related disorder
Criteria Provided
Conflicting Classifications
CA7302697 rs_142938748

7 SubmittersRCV000502817RCV000514165RCV001085151RCV001117717RCV001117716RCV003915396

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
CRB1-related disorder
Criteria Provided
Conflicting Classifications
CA35893184 rs_369775002

5 SubmittersRCV000505025RCV001074835RCV001390794RCV003476197RCV004527614

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

8 SubmittersRCV000504865RCV001053730RCV001275649RCV001783005RCV003449433RCV003449434RCV003449435

NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) SNV
Germline
Chr1:197427964 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Leber congenital amaurosis 8
Criteria Provided
Conflicting Classifications
CA35901203 rs_910489135

5 SubmittersRCV000504944RCV001067848RCV001376401RCV001834627RCV003476198

NM_201253.3(CRB1):c.2842+5G>A SNV
Germline
Chr1:197429619 Pathogenic/Likely pathogenic Retinal dystrophy
Leber congenital amaurosis 8
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
CA1312221 rs_773914330

7 SubmittersRCV000504958RCV001250645RCV001310547RCV001857211RCV003446102

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 SubmittersRCV000504976RCV001064730RCV001275659RCV003449440RCV003228798RCV003449439

NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) SNV
Germline
Chr1:215648684 Pathogenic/Likely pathogenic Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA1393021 rs_770553471

7 SubmittersRCV000504707RCV000674502RCV000657876RCV003464079

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

12 SubmittersRCV000504721RCV000598833RCV000670712RCV001074297RCV001829437

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 SubmittersRCV000505059RCV001379273RCV003470635

NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) SNV
Germline
Chr1:215674637 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA1393320 rs_201238640

9 SubmittersRCV000504678RCV000733677RCV001358731RCV003470634RCV004817730

NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter) SNV
Germline
Chr1:215674957 Pathogenic Usher syndrome
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA344848080 rs_762159022

7 SubmittersRCV000504779RCV001542725RCV001380977RCV004817729

NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter) SNV
Germline
Chr1:215675092 Pathogenic Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA344848937 rs_1362058696

5 SubmittersRCV000505020RCV000670212RCV001865635RCV003449422RCV003449423

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 SubmittersRCV000504698RCV001857206

NM_206933.4(USH2A):c.11507C>T (p.Pro3836Leu) SNV
Unknown
Chr1:215743218 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA344834732 rs_1553257685

1 SubmittersRCV000504870

NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter) SNV
Germline
Chr1:215790265 Pathogenic/Likely pathogenic Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA344844828 rs_1288381992

4 SubmittersRCV000505042RCV000670590RCV001062508RCV003449431RCV003449432

NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys) SNV
Germline
Chr1:215798907 Pathogenic/Likely pathogenic Retinitis pigmentosa
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA344848146 rs_1285853856

8 SubmittersRCV000504889RCV001376218RCV001376751RCV001834625RCV004701572

NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) SNV
Germline
Chr1:215798983 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
CA1394189 rs_749228276

9 SubmittersRCV000504661RCV000593818RCV001075611RCV001810454RCV001376250

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 SubmittersRCV000505005RCV000670550RCV001057476RCV001075684RCV001829438RCV002231177RCV003446101

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
not specified
Usher syndrome type 2A
Criteria Provided
Conflicting Classifications
CA344832484 rs_1188281491

5 SubmittersRCV000504749RCV001376219RCV002527328RCV004701571RCV004796212

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
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA37460459 rs_1035024403

5 SubmittersRCV000505173RCV000674025RCV001062758RCV003446099RCV003446100

NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys) SNV
Germline
Chr1:216073270 Pathogenic/Likely pathogenic Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA344854897 rs_1553298240

4 SubmittersRCV000504716RCV000669452RCV001389284

NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) SNV
Germline
Chr1:216196582 Pathogenic Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
not specified
Retinal dystrophy
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA1395785 rs_746551311

15 SubmittersRCV000504899RCV000627213RCV000666545RCV001002566RCV001073573RCV001276258RCV003389475RCV003449425

NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) SNV
Germline
Chr1:216325393 Pathogenic/Likely pathogenic Usher syndrome
Rare genetic deafness
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
USH2A-related disorder
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA1396612 rs_780308389

11 SubmittersRCV000504656RCV000824796RCV000665487RCV000804683RCV001075415RCV001836644RCV001834622

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 SubmittersRCV000504774RCV001300494RCV001834624RCV003464081

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
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA1396855 rs_772808534

10 SubmittersRCV000504668RCV000673031RCV001039961RCV001273815RCV001376313RCV003479142

NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) SNV
Germline
Chr1:68448644 Pathogenic Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy
Reviewed By Expert Panel
CA902628 rs_199683808

10 SubmittersRCV000504723RCV001250673RCV001377674RCV001724032RCV001834621RCV002496962RCV004527379

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

12 SubmittersRCV000504847RCV000504651RCV000787507RCV000787508RCV001542560RCV001388591RCV003324531

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 SubmittersRCV000504637RCV001075246RCV003558423

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 SubmittersRCV000504738RCV000504926

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

7 SubmittersRCV000504691RCV001074082RCV001049512RCV002289688

NM_006343.3(MERTK):c.2179C>G (p.Arg727Gly) SNV
Unknown
Chr2:112019512 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA1831729 rs_746238212

1 SubmittersRCV000504845

NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) SNV
Germline
Chr2:181604002 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 26
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA2010866 rs_569826109

8 SubmittersRCV000504821RCV001071725RCV001277034RCV003226314

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

12 SubmittersRCV000504713RCV000627266RCV001074819RCV001352960RCV001197047RCV003935321

NM_016247.4(IMPG2):c.2426G>A (p.Trp809Ter) SNV
Unknown
Chr3:101243905 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA353857294 rs_1553681348

1 SubmittersRCV000505127

NM_016247.4(IMPG2):c.118G>T (p.Glu40Ter) SNV
Unknown
Chr3:101319800 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA353858715 rs_1553687058

1 SubmittersRCV000505068

NM_000539.3(RHO):c.83A>G (p.Gln28Arg) SNV
Germline
Chr3:129528816 Pathogenic Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA354495583 rs_1553780837

3 SubmittersRCV000505117RCV001296378RCV004817727

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 SubmittersRCV000505129RCV000987330RCV001381860

NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr) SNV
Germline
Chr3:97784981 Pathogenic Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Retinitis pigmentosa
ARL6-related disorder
Criteria Provided
Single Submitter
CA2505920 rs_771054395

3 SubmittersRCV001376735RCV000504758RCV004745430

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 SubmittersRCV000504677RCV001857222

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 SubmittersRCV000504986RCV000987427RCV001865639

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 SubmittersRCV000504812RCV001865638

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 SubmittersRCV000504735RCV001857216

NM_000283.4(PDE6B):c.1A>G (p.Met1Val) SNV
Unknown
Chr4:625627 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA2793817 rs_781003757

1 SubmittersRCV000504868

NM_000283.4(PDE6B):c.1107+3A>G SNV
Germline
Chr4:656295 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 40
PDE6B-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA2794340 rs_370898371

11 SubmittersRCV000504844RCV000658986RCV001073294RCV001197048RCV004740287

NM_000283.4(PDE6B):c.1547T>C (p.Leu516Pro) SNV
Unknown
Chr4:660546 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA355916145 rs_1553812554

1 SubmittersRCV000504664

NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) SNV
Germline
Chr5:149884549 Pathogenic Retinitis pigmentosa
Inborn genetic diseases
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA3504453 rs_753942596

10 SubmittersRCV000504732RCV000622936RCV000627204RCV004817725

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 SubmittersRCV000505062RCV001075345RCV001229513

NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) SNV
Germline
Chr5:149931117 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 43
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA3504948 rs_146591309

9 SubmittersRCV000504959RCV000595544RCV001376482RCV001073963

NM_001134831.2(AHI1):c.2429C>T (p.Pro810Leu) SNV
Unknown
Chr6:135429945 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA365742781 rs_1554338016

1 SubmittersRCV000504989

NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg) SNV
Germline
Chr6:42704529 Pathogenic Retinal dystrophy
Retinitis pigmentosa
PRPH2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA364135451 rs_1554269053

4 SubmittersRCV000504883RCV001003140RCV002524400

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 SubmittersRCV000505047RCV000670181RCV001362404RCV002282186

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 SubmittersRCV000505095RCV001219169RCV001834630

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 SubmittersRCV000504836RCV001580505RCV002524411

NM_001142800.2(EYS):c.5928-2A>G SNV
Germline
Chr6:64388842 Pathogenic Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA140315879 rs_181169439

14 SubmittersRCV000504892RCV000987723RCV001055069RCV001075860

NM_001142800.2(EYS):c.5408C>G (p.Ser1803Ter) SNV
Unknown
Chr6:64590459 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA364781174 rs_1554183432

1 SubmittersRCV000504992

NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) SNV
Germline
Chr6:64591822 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA140340976 rs_930421180

10 SubmittersRCV000504982RCV001040519RCV001731733RCV004817735

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 SubmittersRCV000504787RCV000809887RCV001783006

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 SubmittersRCV000505158RCV002506233

NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) SNV
Germline
Chr6:64912505 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25
Criteria Provided
Multiple Submitters
No Conflicts
CA140380268 rs_760798455

7 SubmittersRCV000504898RCV001035568RCV001073598RCV001376424

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

14 SubmittersRCV000504943RCV000513566RCV000625446RCV001074080RCV001277019RCV001700135RCV003915401

NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) SNV
Germline
Chr7:23125152 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 42
Criteria Provided
Conflicting Classifications
CA366975744 rs_1554286384

4 SubmittersRCV000505171RCV001054300RCV004596231

NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp) SNV
Germline
Chr7:23125163 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 42
Criteria Provided
Conflicting Classifications
CA16609620 rs_1182983579

6 SubmittersRCV000504764RCV001043815RCV001074657RCV001376512

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 SubmittersRCV000504878RCV003558419

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 SubmittersRCV000505089RCV000760556RCV003889913

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 SubmittersRCV000504901RCV001075558

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 SubmittersRCV000504623RCV001857214

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 SubmittersRCV000504949RCV001324945RCV002490846

NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) SNV
Germline
Chr15:71811825 Conflicting classifications of pathogenicity Abnormality of the eye
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 37
Enhanced S-cone syndrome
Criteria Provided
Conflicting Classifications
CA7640280 rs_772881093

5 SubmittersRCV000504667RCV001074908RCV001857226RCV004787814RCV003464082

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 SubmittersRCV000504861RCV001003093RCV001039719RCV002226466RCV003464083

NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) SNV
Germline
Chr15:71813408 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Goldmann-Favre syndrome
Retinitis pigmentosa
Retinitis pigmentosa 37
Enhanced S-cone syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA7640401 rs_377257254

8 SubmittersRCV000504973RCV000809974RCV001449815RCV001724033RCV001376214RCV003464084

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 SubmittersRCV000504730RCV001002703

NM_012106.4(ARL2BP):c.207+1G>A SNV
Germline
Chr16:57248644 Pathogenic Retinal dystrophy
Condition: not provided
ARL2BP-related disorder
Retinitis pigmentosa with or without situs inversus
Criteria Provided
Multiple Submitters
No Conflicts
CA8074878 rs_199830550

4 SubmittersRCV000504888RCV001857201RCV003392337RCV004698499

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 SubmittersRCV000504924RCV002524402RCV003989545

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 SubmittersRCV000504700RCV001073841RCV001384477

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
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 45
Criteria Provided
Multiple Submitters
No Conflicts
CA8083831 rs_189234741

9 SubmittersRCV000504965RCV001056559RCV001074746RCV000678544

NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) SNV
Germline
Chr17:1650882 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Autosomal dominant retinitis pigmentosa
Retinitis pigmentosa 13
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA397562024 rs_752997229

9 SubmittersRCV000504770RCV001231748RCV001257799RCV001542603RCV003889914

NM_015629.4(PRPF31):c.1A>T (p.Met1Leu) SNV
Unknown
Chr19:54118279 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA407788919 rs_1555791188

1 SubmittersRCV000505066

NM_001034853.2(RPGR):c.1429G>T (p.Glu477Ter) SNV
Unknown
ChrX:38291470 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA412737909 rs_1555962965

1 SubmittersRCV000504699

NM_001034853.2(RPGR):c.1237A>T (p.Arg413Ter) SNV
Unknown
ChrX:38298964 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA412739722 rs_771039023

1 SubmittersRCV000505049

NM_001034853.2(RPGR):c.779-3C>A SNV
Unknown
ChrX:38304793 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA645509407 rs_1555965712

1 SubmittersRCV000504988

NM_001034853.2(RPGR):c.126T>G (p.Cys42Trp) SNV
Unknown
ChrX:38323427 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA412745785 rs_1555968526

1 SubmittersRCV000504753

NM_006915.3(RP2):c.338C>A (p.Ala113Asp) SNV
Unknown
ChrX:46853711 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA413039319 rs_1556318627

1 SubmittersRCV000505166

NM_006915.3(RP2):c.352C>T (p.Arg118Cys) SNV
Germline
ChrX:46853725 Pathogenic/Likely pathogenic Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
X-linked retinitis pigmentosa
Retinitis pigmentosa 2
Criteria Provided
Multiple Submitters
No Conflicts
CA413039367 rs_1556318633

9 SubmittersRCV000504762RCV001003184RCV001091011RCV001257800RCV002283485

NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) SNV
Germline
Chr1:215674550 Conflicting classifications of pathogenicity not specified
Retinal dystrophy
Childhood onset hearing loss
Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1393303 rs_148033154

8 SubmittersRCV000507584RCV001074764RCV001328024RCV001374885RCV001425706

NM_201253.3(CRB1):c.1914G>T (p.Ser638=) SNV
Germline
Chr1:197421742 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Conflicting Classifications
CA422808630 rs_780682072

2 SubmittersRCV000512803RCV001482580

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 SubmittersRCV000513509RCV001199675

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 SubmittersRCV000513076RCV001199567

NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) SNV
Germline
Chr1:216084747 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Hearing impairment
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA344858879 rs_1461319754

8 SubmittersRCV000513450RCV000672338RCV001375184RCV001073947RCV003449460RCV003449461

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 SubmittersRCV000513191RCV000674877RCV001199648

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 SubmittersRCV000513241RCV001199670RCV001857319

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 SubmittersRCV000512775RCV001199777

NM_000541.5(SAG):c.806+4A>G SNV
Germline
Chr2:233331716 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2174534 rs_749633616

3 SubmittersRCV001199778RCV000513254

NM_000440.3(PDE6A):c.2083C>T (p.Gln695Ter) SNV
Germline
Chr5:149883481 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA361692457 rs_1161389116

2 SubmittersRCV001199495RCV000512677

NM_000440.3(PDE6A):c.1065+2T>A SNV
Germline
Chr5:149907310 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA361698740 rs_1554090012

3 SubmittersRCV001199500RCV000513022

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 SubmittersRCV000512978RCV001199561

NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) SNV
Germline
Chr6:63720639 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 25
not specified
Criteria Provided
Conflicting Classifications
CA3876667 rs_772888249

10 SubmittersRCV000513040RCV001162434RCV001271835RCV001376277RCV002248747

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 SubmittersRCV000513506RCV001159547RCV001285867

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 SubmittersRCV000512810RCV001199546

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 SubmittersRCV000514784RCV001002128RCV003935357

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

5 SubmittersRCV000515461RCV002527440

NM_014285.7(EXOSC2):c.593G>A (p.Gly198Asp) SNV
Germline
Chr9:130702231 Likely pathogenic Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA375247996 rs_756204866

2 SubmittersRCV000515462RCV004808743

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
Retinitis pigmentosa
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7814278 rs_758052634

6 SubmittersRCV000515606RCV001073305RCV002282196RCV001857877RCV002490876RCV003326447

NM_205861.3(DHDDS):c.110G>A (p.Arg37His) SNV
Germline
Chr1:26438214 Pathogenic/Likely pathogenic Condition: not provided
Developmental delay and seizures with or without movement abnormalities
Retinitis pigmentosa 59
Criteria Provided
Multiple Submitters
No Conflicts
CA339138678 rs_1553121073

8 SubmittersRCV000519248RCV000578122RCV001858011

NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) SNV
Germline
Chr2:27446349 Conflicting classifications of pathogenicity Condition: not provided
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
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Criteria Provided
Conflicting Classifications
CA1579519 rs_141098495

6 SubmittersRCV000520966RCV001239376RCV002476063RCV003483653RCV004553147

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
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Criteria Provided
Conflicting Classifications
CA1580090 rs_61747068

6 SubmittersRCV000523121RCV002467857RCV004553148RCV001089402

NM_001031710.3(KLHL7):c.793+5G>C SNV
Germline
Chr7:23144030 Conflicting classifications of pathogenicity not specified
Condition: not provided
Retinitis pigmentosa 42
PERCHING syndrome
Criteria Provided
Conflicting Classifications
CA4186478 rs_375718274

5 SubmittersRCV000523837RCV001057631RCV002248756RCV002274055

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 SubmittersRCV000522887RCV001829521RCV002525229RCV003889920

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 SubmittersRCV000542372RCV000754974RCV003470756RCV003767007

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 SubmittersRCV000553292RCV002287424

NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala) SNV
Germline
Chr2:27459395 Conflicting classifications of pathogenicity Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Inborn genetic diseases
Condition: not provided
IFT172-related disorder
Criteria Provided
Conflicting Classifications
CA1580198 rs_142409945

6 SubmittersRCV000542399RCV001336304RCV000624406RCV001573188RCV004553245

NM_025114.4(CEP290):c.180+1G>A SNV
Germline
Chr12:88140955 Pathogenic/Likely pathogenic Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Leber congenital amaurosis
Condition: not provided
Retinitis pigmentosa
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Criteria Provided
Multiple Submitters
No Conflicts
CA6712897 rs_758593134

7 SubmittersRCV000542843RCV000787558RCV001091342RCV001199655RCV002289749RCV002497107

NM_001031710.3(KLHL7):c.618+1G>A SNV
Germline
Chr7:23140945 Likely pathogenic Ulnar deviation of the wrist
Distal arthrogryposis
PERCHING syndrome
Retinitis pigmentosa 42
Criteria Provided
Single Submitter
CA366976530 rs_1554289078

3 SubmittersRCV000576878RCV000824875RCV000991229RCV004767412

NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln) SNV
Germline
Chr1:26457880 Pathogenic Developmental delay and seizures with or without movement abnormalities
Condition: not provided
Retinitis pigmentosa 59
Criteria Provided
Multiple Submitters
No Conflicts
CA339144815 rs_1553122926

10 SubmittersRCV000578123RCV001172209RCV001853833

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 SubmittersRCV000578121RCV001860002

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 SubmittersRCV000578557RCV000986511

NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) SNV
Germline
Chr1:216086749 Pathogenic Condition: not provided
Usher syndrome type 2A
Leber congenital amaurosis
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
CA1395583 rs_754768875

11 SubmittersRCV000578898RCV000670513RCV000787898RCV000787731RCV003889925RCV003465286

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 SubmittersRCV000578631RCV000678631RCV002466542

NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) SNV
Germline
Chr16:1519982 Pathogenic/Likely pathogenic Condition: not provided
Saldino-Mainzer syndrome
Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA276675316 rs_1002670900

4 SubmittersRCV000578612RCV001230423RCV001075043RCV002506390

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 SubmittersRCV000578720RCV001199468

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 SubmittersRCV000579001RCV001215266

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 SubmittersRCV000585084RCV001003256RCV001269243RCV001835857

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 SubmittersRCV000585181RCV001199647

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 SubmittersRCV000585175RCV001119757

NM_001297.5(CNGB1):c.838-4G>T SNV
Germline
Chr16:57957381 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 45
Retinitis pigmentosa
not specified
CNGB1-related disorder
Criteria Provided
Conflicting Classifications
CA8083661 rs_375539469

7 SubmittersRCV000584837RCV000625379RCV001118433RCV001706680RCV003945371

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 SubmittersRCV000585399RCV001199737

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 SubmittersRCV000585474RCV001199809

NM_000539.3(RHO):c.392T>C (p.Leu131Pro) SNV
Germline
Chr3:129530906 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 4
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA354497998 rs_1553781140

4 SubmittersRCV000585361RCV001265185RCV004817780

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 SubmittersRCV000585422RCV001199637

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 SubmittersRCV000584983RCV001199544RCV002530868

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 SubmittersRCV000585628RCV001199539

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 SubmittersRCV000586218RCV001073311RCV001853963

NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) SNV
Germline
Chr16:56484820 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Inborn genetic diseases
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Retinal dystrophy
BBS2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA8065521 rs_567573386

10 SubmittersRCV000590291RCV000622316RCV000667111RCV001376258RCV004817790RCV004530646

NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) SNV
Germline
Chr1:94037350 Conflicting classifications of pathogenicity Condition: not provided
ABCA4-related disorder
Age related macular degeneration 2
Cone-rod dystrophy
Retinitis pigmentosa 19
not specified
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Retinal dystrophy
Stargardt disease
Criteria Provided
Conflicting Classifications
CA957869 rs_146786552

14 SubmittersRCV000597651RCV001101855RCV001195780RCV002267738RCV002289889RCV003235303RCV002497243RCV004817792RCV004594081

NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) SNV
Germline
Chr1:216289375 Pathogenic Usher syndrome
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Ear malformation
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA1396371 rs_534534437

17 SubmittersRCV000592080RCV000599059RCV001074303RCV001376324RCV001271237RCV001814193RCV002506407

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 SubmittersRCV000594582RCV001106854

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 SubmittersRCV000595474RCV000786012RCV001257889RCV001783096

NM_002900.3(RBP3):c.843C>T (p.Pro281=) SNV
Germline
Chr10:47349327 Conflicting classifications of pathogenicity not specified
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA5487678 rs_35186791

7 SubmittersRCV000594133RCV000888334RCV001106850RCV003889929

NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp) SNV
Germline
Chr2:29074177 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA1592724 rs_201706430

4 SubmittersRCV000593474RCV001143465RCV003889930

NM_000322.5(PRPH2):c.888C>T (p.Pro296=) SNV
Germline
Chr6:42698448 Conflicting classifications of pathogenicity Condition: not provided
Patterned macular dystrophy 1
Cone-rod dystrophy
Pigmentary retinal dystrophy
Adult-onset foveomacular vitelliform dystrophy
Retinitis pigmentosa
Choroidal dystrophy, central areolar 2
PRPH2-related disorder
Criteria Provided
Conflicting Classifications
CA3808492 rs_183714869

3 SubmittersRCV000594269RCV001161267RCV001161269RCV001161265RCV001161266RCV001161268RCV001161270RCV001468812

NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys) SNV
Germline
Chr15:89218681 Pathogenic/Likely pathogenic Condition: not provided
Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA7722406 rs_775252439

4 SubmittersRCV000596579RCV002250668RCV002282255

NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln) SNV
Germline
Chr16:1511125 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7812829 rs_113216558

5 SubmittersRCV000591433RCV001224336RCV002497267

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 SubmittersRCV000596259RCV001701054RCV001143285

NM_206933.4(USH2A):c.11047+1G>A SNV
Germline
Chr1:215766680 Pathogenic Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16609670 rs_201730567

7 SubmittersRCV000597898RCV000670491RCV001075129RCV004586822

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 SubmittersRCV000597091RCV002248812RCV003889932

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 SubmittersRCV000599289RCV000669939RCV001041537

NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) SNV
Germline
Chr1:216097196 Pathogenic Rare genetic deafness
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
USH2A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA1395659 rs_199679165

10 SubmittersRCV000605510RCV001002689RCV000669125RCV001208453RCV003451354RCV004732969

NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) SNV
Germline
Chr1:215648657 Pathogenic/Likely pathogenic Rare genetic deafness
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
USH2A-related disorder
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA1393019 rs_143344549

14 SubmittersRCV000613330RCV001040115RCV000986515RCV001376397RCV002506444RCV003155245RCV004732968RCV004817810

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 SubmittersRCV000605356RCV000710334RCV001057761RCV001271137RCV003471974

NM_201253.3(CRB1):c.1192G>A (p.Val398Ile) SNV
Germline
Chr1:197421020 Conflicting classifications of pathogenicity not specified
Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Conflicting Classifications
CA1311884 rs_144011428

3 SubmittersRCV000608690RCV001101002RCV001101000RCV001101001RCV002063186

NM_206933.4(USH2A):c.14134-9T>C SNV
Germline
Chr1:215650810 Conflicting classifications of pathogenicity Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
CA37392676 rs_899521308

3 SubmittersRCV001486918RCV003446254RCV003446255

NM_006343.3(MERTK):c.1296+5G>A SNV
Unknown
Chr2:111982998 Likely pathogenic Retinitis pigmentosa 38 Criteria Provided
Single Submitter
CA658795841 rs_1553454799

1 SubmittersRCV000622651

NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) SNV
Germline
Chr1:197435035 Pathogenic Inborn genetic diseases
Stargardt disease
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
CA344046346 rs_564754426

5 SubmittersRCV000623037RCV000678549RCV001040018RCV003451477RCV003451476

NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) SNV
Germline
Chr1:212858454 Pathogenic/Likely pathogenic Inborn genetic diseases
Posterior column ataxia-retinitis pigmentosa syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA344794918 rs_1468358104

4 SubmittersRCV000623287RCV001376323RCV003117431

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 SubmittersRCV000624450RCV001049229RCV003451479

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 SubmittersRCV000622689RCV000797619RCV001561475RCV002491337RCV004547760

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

11 SubmittersRCV000625445RCV001058505RCV001073246RCV001276908

NM_177965.4(CFAP418):c.269A>G (p.Asn90Ser) SNV
Germline
Chr8:95260507 Conflicting classifications of pathogenicity Cone-rod dystrophy 16
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
CFAP418-related disorder
Criteria Provided
Conflicting Classifications
CA4815197 rs_199731969

8 SubmittersRCV000625263RCV001167827RCV001700418RCV003889939RCV003905669

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 SubmittersRCV000625628RCV003688867

NM_206933.4(USH2A):c.10388-1G>C SNV
Germline
Chr1:215782936 Pathogenic Retinitis pigmentosa 39 No Assertion Criteria Provided
CA344838260 rs_1553261478

1 SubmittersRCV000625627

NM_006343.3(MERTK):c.2486+1G>A SNV
Germline
Chr2:112022395 Pathogenic Retinitis pigmentosa 38
Retinal dystrophy
No Assertion Criteria Provided
CA348240272 rs_1309140887

2 SubmittersRCV000625642RCV004817826

NM_201548.5(CERKL):c.239-2A>G SNV
Germline
Chr2:181604081 Pathogenic Retinitis pigmentosa 26
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2010884 rs_776886395

5 SubmittersRCV000625655RCV001211583

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
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA355917651 rs_370758397

3 SubmittersRCV000625541RCV001091291RCV001199717

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

3 SubmittersRCV000626460RCV001779029

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 SubmittersRCV000626730RCV001199233

NM_201548.5(CERKL):c.481+2T>G SNV
Germline
Chr2:181603835 Pathogenic/Likely pathogenic Retinal pigment epithelial atrophy
Cone dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 26
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2010833 rs_753994107

7 SubmittersRCV000626729RCV000787562RCV000986950RCV001093154

NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter) SNV
Germline
Chr6:42704581 Pathogenic Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
PRPH2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA364135722 rs_1554269081

6 SubmittersRCV000627208RCV001003144RCV001074257RCV001389850

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

5 SubmittersRCV000645726RCV001003156RCV001835041

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 SubmittersRCV000638366RCV000765185RCV001117719RCV000787890RCV001117718RCV003928075RCV002533215

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 SubmittersRCV000642678RCV001117498

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
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Joubert syndrome 10
Orofaciodigital syndrome I
OFD1-related disorder
Criteria Provided
Conflicting Classifications
CA10351708 rs_778349684

3 SubmittersRCV000638947RCV000766074RCV004737917

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 SubmittersRCV000657792RCV000991057RCV001376220

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
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Criteria Provided
Conflicting Classifications
rs_142732109

5 SubmittersRCV000658513RCV002249386RCV002507145

NM_201253.3(CRB1):c.29T>C (p.Leu10Pro) SNV
Germline
Chr1:197268441 Conflicting classifications of pathogenicity Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_201609001

4 SubmittersRCV000658537RCV001526747RCV001477776RCV004817855

NM_025114.4(CEP290):c.6646-11T>G SNV
Germline
Chr12:88059031 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_1431021703

3 SubmittersRCV000658659RCV001199653RCV004817858

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 SubmittersRCV000658664RCV001199652

NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) SNV
Germline
Chr17:1655533 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 13
PRPF8-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_1555550617

10 SubmittersRCV000658761RCV001003134RCV001074369RCV000761333RCV004758716

NM_001201543.2(FAM161A):c.1205C>G (p.Ser402Ter) SNV
Germline
Chr2:61839799 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_1553354522

3 SubmittersRCV000658866RCV001199813

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 SubmittersRCV000658867RCV000761236RCV001199815

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 SubmittersRCV000659056RCV001199683

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 SubmittersRCV000659059RCV001199480

NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter) SNV
Germline
ChrX:38323420 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_1555968524

2 SubmittersRCV000659152RCV001199811

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 SubmittersRCV000659156RCV001199753

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 Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Criteria Provided
Conflicting Classifications
rs_913764481

2 SubmittersRCV000661919RCV000661918RCV001470454

NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter) SNV
Germline
Chr4:47952608 Pathogenic Retinitis pigmentosa 49
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_199636364

10 SubmittersRCV000662351RCV001002956RCV001075248RCV001268020

NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg) SNV
Germline
Chr1:215648726 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_199851839

7 SubmittersRCV000668551RCV000678645RCV001075854RCV001855501

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 Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_765476745

7 SubmittersRCV000670968RCV001004142RCV001388593RCV003453316

NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys) SNV
Germline
Chr1:215675121 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
USH2A-related disorder
Criteria Provided
Conflicting Classifications
rs_200792578

7 SubmittersRCV000665011RCV000924302RCV001073347RCV001835069RCV004533463

NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter) SNV
Germline
Chr1:215628921 Pathogenic/Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_763463859

3 SubmittersRCV000673159RCV003698808RCV003465523

NM_206933.4(USH2A):c.13811+1G>A SNV
Germline
Chr1:215674099 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_1177257719

6 SubmittersRCV000672985RCV001073725RCV001231260RCV003446335RCV003446336

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 SubmittersRCV000821987RCV001074654RCV001810473RCV002468597

NM_206933.4(USH2A):c.10388-1G>A SNV
Germline
Chr1:215782936 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_1553261478

4 SubmittersRCV000673642RCV003446338RCV002531341RCV003446337

NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met) SNV
Germline
Chr1:215639190 Pathogenic/Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_757676723

10 SubmittersRCV000668847RCV000792611RCV001074753RCV001276145RCV001731867RCV003453276

NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) SNV
Germline
Chr1:215634578 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
rs_752377040

6 SubmittersRCV000667292RCV001004140RCV001059699RCV001075374RCV003465473

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
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_764182950

12 SubmittersRCV000668871RCV000678659RCV000986527RCV001073802RCV001724125RCV001209780RCV003389477

NM_206933.4(USH2A):c.11712-2A>C SNV
Germline
Chr1:215728386 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_753505333

3 SubmittersRCV000672715RCV002532133RCV003446331RCV003446330

NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter) SNV
Germline
Chr1:215670974 Pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_747063294

12 SubmittersRCV000669826RCV001074508RCV001380767RCV003453291RCV003453292

NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) SNV
Germline
Chr1:215671283 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_367674026

7 SubmittersRCV000673923RCV001075535RCV001376439RCV001212324RCV003453369

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 Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
See cases
Criteria Provided
Multiple Submitters
No Conflicts
rs_779572631

8 SubmittersRCV000673284RCV001074343RCV001091126RCV003453363RCV003453364RCV004584401

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 Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_1553268562

4 SubmittersRCV000674124RCV001861835RCV003446340RCV003446339

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 Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_1553271002

4 SubmittersRCV000670330RCV001377278RCV003446312RCV003446313

NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp) SNV
Germline
Chr1:215728265 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1431048303

6 SubmittersRCV000670856RCV002265845RCV003453311RCV003453310RCV003558512RCV004817898

NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter) SNV
Germline
Chr1:215878765 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_749452910

6 SubmittersRCV000671631RCV001074600RCV001389150RCV003453326RCV003453327

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 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_1553273330

7 SubmittersRCV000669141RCV001073245RCV001389152RCV003453280RCV003453281

NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr) SNV
Germline
Chr1:215779923 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_779716464

6 SubmittersRCV000666031RCV001035468RCV001273694RCV003459575RCV003889945

NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) SNV
Germline
Chr1:215965470 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Retinal dystrophy
USH2A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_1485173724

10 SubmittersRCV000674780RCV000797378RCV001829884RCV003453389RCV003389481RCV004817912RCV004527731

NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) SNV
Germline
Chr1:215970680 Conflicting classifications of pathogenicity Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_759494205

5 SubmittersRCV000669684RCV001073606RCV000787739RCV002271557RCV002532090

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 SubmittersRCV000674831RCV001230929

NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg) SNV
Germline
Chr1:215782146 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_1553261372

6 SubmittersRCV000673865RCV001075394RCV003453368RCV001861824RCV003453367

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
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_1553250050

3 SubmittersRCV000669209RCV001855516RCV003446305RCV003446306

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 SubmittersRCV000672187RCV002531309RCV003446325RCV003446326

NM_206933.4(USH2A):c.6805+1G>T SNV
Germline
Chr1:215993019 Pathogenic/Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_1553285919

4 SubmittersRCV000674125RCV001380331RCV003446341RCV003446342

NM_206933.4(USH2A):c.6326-2A>G SNV
Germline
Chr1:216000564 Likely 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_1553287118

3 SubmittersRCV000672161RCV003446322RCV002531307RCV003446321

NM_206933.4(USH2A):c.14582+1G>C SNV
Germline
Chr1:215648527 Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_1553250150

5 SubmittersRCV000664550RCV001075758RCV001376398RCV003669164RCV003446293

NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) SNV
Germline
Chr1:215648540 Conflicting classifications of pathogenicity Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
not specified
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
rs_749889050

6 SubmittersRCV000674387RCV001003250RCV001047727RCV001829883RCV002271563RCV003453383

NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter) SNV
Germline
Chr1:216078262 Pathogenic Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_1553299079

8 SubmittersRCV001074797RCV000672460RCV001091135RCV003453347RCV002272322RCV002469251

NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro) SNV
Germline
Chr1:216084847 Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_1162305984

5 SubmittersRCV000674537RCV001300491RCV003453385RCV003453384

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 SubmittersRCV000667924RCV001003251

NM_206933.4(USH2A):c.13812-1G>A SNV
Germline
Chr1:215671294 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_199782530

4 SubmittersRCV000664526RCV001868194RCV004817862RCV003446291RCV003446292

NM_206933.4(USH2A):c.10586-2A>G SNV
Germline
Chr1:215782198 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_370327669

5 SubmittersRCV000665854RCV001861747RCV003446296RCV003446297RCV004817871

NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) SNV
Germline
Chr1:215674572 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Criteria Provided
Conflicting Classifications
rs_139474806

10 SubmittersRCV000669731RCV001003255RCV001074211RCV001376262RCV001244688RCV003313971

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 SubmittersRCV000670682RCV001383884RCV003453308RCV003453309

NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr) SNV
Germline
Chr1:215782858 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
USH2A-related disorder
Criteria Provided
Conflicting Classifications
rs_1553261464

6 SubmittersRCV000669285RCV001055911RCV004817888RCV004723053

NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg) SNV
Germline
Chr1:215675331 Conflicting classifications of pathogenicity Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
rs_769001387

4 SubmittersRCV000673184RCV001376749RCV003472152

NM_206933.4(USH2A):c.4397-1G>A SNV
Germline
Chr1:216175483 Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
USH2A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_199982344

7 SubmittersRCV000665749RCV001075029RCV001205806RCV001835072RCV003446295RCV004533465

NM_206933.4(USH2A):c.9258+1G>T SNV
Germline
Chr1:215844293 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_748810737

7 SubmittersRCV000671455RCV001075805RCV001855560RCV003230570RCV003446317RCV003446318

NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys) SNV
Germline
Chr1:215782902 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_749121941

4 SubmittersRCV000669541RCV001242045RCV003459612RCV004817892

NM_206933.4(USH2A):c.10388-2A>G SNV
Germline
Chr1:215782937 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_1553261479

6 SubmittersRCV000670401RCV001073509RCV001212598RCV001830446RCV003446314

NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) SNV
Germline
Chr1:215680175 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_780893919

8 SubmittersRCV001245259RCV001003257RCV001810465RCV003459567RCV004817866

NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) SNV
Germline
Chr1:215680211 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_988693758

8 SubmittersRCV000668946RCV001074255RCV001062119RCV001829851RCV003453277

NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter) SNV
Germline
Chr1:215867018 Pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_760302201

6 SubmittersRCV000673985RCV001861829RCV003453372RCV003453373RCV004817908

NM_206933.4(USH2A):c.8682-1G>A SNV
Germline
Chr1:215867171 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1553271001

4 SubmittersRCV000665425RCV003459571RCV003688868RCV004817869

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
not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_749621457

5 SubmittersRCV000666463RCV003330880RCV003451646RCV003451647RCV003889947

NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg) SNV
Germline
Chr1:216246777 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
not specified
Criteria Provided
Conflicting Classifications
rs_1037325220

5 SubmittersRCV000664639RCV001868195RCV003451626RCV003451625RCV004782495

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
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_749726310

4 SubmittersRCV000664530RCV001247302RCV003451623RCV003451624

NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser) SNV
Germline
Chr1:215798994 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
not specified
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_138543813

9 SubmittersRCV000665320RCV000825851RCV001058364RCV001276955RCV004817868

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
Usher syndrome
Criteria Provided
Conflicting Classifications
rs_1380261595

4 SubmittersRCV000671650RCV001366543RCV003459629RCV004768540

NM_206933.4(USH2A):c.8558+1G>T SNV
Germline
Chr1:215878763 Pathogenic/Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome type 2
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_770383273

5 SubmittersRCV000671361RCV001075752RCV000818929RCV001003266RCV003446315RCV003446316

NM_206933.4(USH2A):c.2168-2A>G SNV
Germline
Chr1:216247228 Pathogenic/Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_993185407

8 SubmittersRCV000672583RCV001073756RCV001199965RCV001382734RCV002272323RCV003446327

NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) SNV
Germline
Chr1:216292291 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_483353054

8 SubmittersRCV000667787RCV001073924RCV001271239RCV001067227RCV003451662

NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys) SNV
Germline
Chr1:216323634 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
rs_1423536179

5 SubmittersRCV000666327RCV001073487RCV001377824RCV004568500

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 SubmittersRCV000671968RCV004568546

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 SubmittersRCV000670876RCV001381383RCV001830449RCV003453315

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 Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_1553287070

5 SubmittersRCV000672769RCV001861813RCV003446333RCV003446332

NM_206933.4(USH2A):c.6050-2A>G SNV
Germline
Chr1:216048649 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_772124060

5 SubmittersRCV000670084RCV001377849RCV001829862RCV003446311

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 SubmittersRCV000669904RCV003472118

NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter) SNV
Germline
Chr1:215867017 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1553270960

2 SubmittersRCV000669486RCV004817890

NM_206933.4(USH2A):c.43C>T (p.Gln15Ter) SNV
Germline
Chr1:216422294 Pathogenic/Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_1553258122

4 SubmittersRCV000670151RCV001855538RCV003155271RCV003453295RCV003453294

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

9 SubmittersRCV000664714RCV000815036RCV001835904RCV001073564RCV003446294

NM_206933.4(USH2A):c.1A>G (p.Met1Val) SNV
Germline
Chr1:216422336 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_924627806

4 SubmittersRCV000669526RCV001101305RCV001101306RCV001855521

NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu) SNV
Germline
Chr1:215888778 Conflicting classifications of pathogenicity Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
rs_748455430

4 SubmittersRCV000671207RCV001074307RCV002531272RCV003459622

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 SubmittersRCV000672102RCV001231865RCV003453342RCV003453343

NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter) SNV
Germline
Chr1:215817098 Pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_772100045

8 SubmittersRCV000671836RCV000795361RCV001273701RCV001844217RCV003453335

NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile) SNV
Germline
Chr1:216175263 Conflicting classifications of pathogenicity Usher syndrome
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
rs_758095361

6 SubmittersRCV001731858RCV001073769RCV002530650RCV001810466RCV003459568

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 SubmittersRCV000667675RCV001861760

NM_206933.4(USH2A):c.8846-1G>T SNV
Germline
Chr1:215846034 Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_771051185

4 SubmittersRCV000674857RCV001724130RCV002531363RCV003446345RCV003446346

NM_206933.4(USH2A):c.7595-1G>T SNV
Germline
Chr1:215889055 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_1553273421

4 SubmittersRCV000669247RCV002532085RCV003446308RCV003446307

NM_206933.4(USH2A):c.4988-2A>G SNV
Germline
Chr1:216084879 Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_143521854

4 SubmittersRCV000666589RCV003446298RCV003446299RCV002530692

NM_206933.4(USH2A):c.4886-1G>A SNV
Germline
Chr1:216086821 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_1553300340

4 SubmittersRCV000672653RCV001377692RCV003446329RCV003446328

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 SubmittersRCV000671982RCV001074119RCV001868259RCV003389478RCV003453338RCV003453339

NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu) SNV
Germline
Chr1:216190312 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1230923403

4 SubmittersRCV000669208RCV002265843RCV002532084

NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter) SNV
Germline
Chr1:216198476 Pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_756623509

7 SubmittersRCV000669530RCV001268204RCV003453288RCV003453289RCV004817891

NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter) SNV
Germline
Chr1:216198513 Pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_764797292

6 SubmittersRCV000672888RCV001271229RCV001047995RCV003453359RCV003389479

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 Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Rare genetic deafness
Usher syndrome
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_767078782

14 SubmittersRCV000673272RCV001271234RCV000826153RCV001384598RCV001075425RCV003453362

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 SubmittersRCV000668480RCV001377823RCV003889952

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
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
USH2A-related disorder
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_1342455785

10 SubmittersRCV000667892RCV001067077RCV001075428RCV001276250RCV003451666RCV004533468RCV004768527

NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) SNV
Germline
Chr1:216196630 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1177198729

6 SubmittersRCV000666713RCV001003274RCV001065685RCV001376203RCV003451652RCV004817872

NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala) SNV
Germline
Chr1:216292337 Conflicting classifications of pathogenicity Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
not specified
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_147509797

7 SubmittersRCV000666371RCV001101108RCV001101109RCV001302702RCV003330879RCV003451645RCV003889946

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 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_372927796

6 SubmittersRCV000672169RCV001074724RCV001377215RCV003446323RCV003446324

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 SubmittersRCV001075316RCV001230842RCV001376349RCV001797777RCV001810471

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 SubmittersRCV000670287RCV001300493RCV001829863RCV003459614

NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter) SNV
Germline
Chr1:216246597 Pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1394737087

4 SubmittersRCV000669105RCV001727791RCV003453279RCV002531217

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 SubmittersRCV000666580RCV001227344RCV003459581

NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) SNV
Germline
Chr1:216246741 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
not specified
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
rs_746071929

10 SubmittersRCV000778220RCV001244238RCV001731856RCV001075434RCV001098933RCV001376385

NM_206933.4(USH2A):c.2168-1G>C SNV
Germline
Chr1:216247227 Pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Hearing impairment
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_748961218

9 SubmittersRCV000672901RCV001075017RCV001092379RCV001526604RCV001829879RCV003446334

NM_206933.4(USH2A):c.2167+5G>A SNV
Germline
Chr1:216250898 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
USH2A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_771583281

13 SubmittersRCV000667707RCV001073540RCV001003280RCV001829844RCV001035076RCV002509496RCV001376264RCV004732991

NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter) SNV
Germline
Chr1:216251047 Pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_868562952

6 SubmittersRCV000669090RCV001727790RCV001861774RCV003453278RCV004817887

NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly) SNV
Germline
Chr1:216325408 Conflicting classifications of pathogenicity Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
rs_762384558

3 SubmittersRCV000669952RCV002531241RCV003472120

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 SubmittersRCV000664581RCV000761343RCV001171545RCV001208650RCV003472065RCV004533461

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 SubmittersRCV000665398RCV001074493RCV002233096RCV002530654RCV003465441RCV004533464

NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) SNV
Germline
Chr1:216327611 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1553250952

7 SubmittersRCV000666765RCV000760349RCV002468596RCV001841851RCV004817874

NM_206933.4(USH2A):c.538T>C (p.Ser180Pro) SNV
Germline
Chr1:216418627 Pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_1171672823

6 SubmittersRCV000669584RCV001797778RCV001829859RCV001058017RCV004568526

NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) SNV
Germline
Chr1:216325447 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2
Retinal dystrophy
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_758303489

8 SubmittersRCV000667534RCV001003286RCV001075062RCV001835907RCV001382060RCV003459585

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 SubmittersRCV000668857RCV001054302RCV001526995RCV003446301RCV003446302

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 SubmittersRCV000672162RCV002531308RCV003453344RCV003453345

NM_206933.4(USH2A):c.187C>T (p.Arg63Ter) SNV
Germline
Chr1:216422150 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_781223647

7 SubmittersRCV000672792RCV001074678RCV001037535RCV001835910RCV003453356

NM_206933.4(USH2A):c.232T>G (p.Phe78Val) SNV
Germline
Chr1:216422105 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_775094277

6 SubmittersRCV000674232RCV001300495RCV001830462RCV003459644RCV004817909

NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) SNV
Germline
Chr1:68438958 Likely pathogenic Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Condition: not provided
Reviewed By Expert Panel
rs_1169420841

4 SubmittersRCV000672144RCV004801923RCV004788098

NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) SNV
Germline
Chr1:68439294 Likely pathogenic Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
RPE65-related recessive retinopathy
not specified
Reviewed By Expert Panel
rs_1553153135

5 SubmittersRCV000672055RCV001549804RCV004527392RCV004768542

NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) SNV
Germline
Chr2:181544762 Pathogenic/Likely pathogenic Retinitis pigmentosa 26
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1187839124

10 SubmittersRCV000671115RCV000794851RCV000779293RCV001074698

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 SubmittersRCV000667382RCV003465476

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 SubmittersRCV000667564RCV000938879RCV001164470RCV002271554RCV003889950

NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) SNV
Germline
Chr6:64066431 Conflicting classifications of pathogenicity Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_145623359

7 SubmittersRCV000671055RCV000779516RCV001059673RCV004817899

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
not specified
Criteria Provided
Conflicting Classifications
rs_184448644

6 SubmittersRCV000667276RCV001272973RCV001055122RCV003889948RCV004702283

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

8 SubmittersRCV000674793RCV001051444RCV001003024RCV003889965

NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) SNV
Germline
Chr6:65296034 Conflicting classifications of pathogenicity Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
rs_142450703

9 SubmittersRCV000667034RCV001003026RCV001248547RCV002282303

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
Optic atrophy
Criteria Provided
Conflicting Classifications
rs_143327210

6 SubmittersRCV000670338RCV000908975RCV001159869RCV004817896

NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu) SNV
Germline
Chr6:64886803 Conflicting classifications of pathogenicity Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
not specified
Criteria Provided
Conflicting Classifications
rs_766153322

4 SubmittersRCV000669964RCV001244051RCV003889958RCV003488796

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
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_559824825

6 SubmittersRCV000672988RCV000779515RCV000926124RCV004817903

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 SubmittersRCV000668387RCV002530745

NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) SNV
Germline
Chr6:65334981 Pathogenic/Likely pathogenic Retinitis pigmentosa 25
Macular dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_778030177

4 SubmittersRCV000666796RCV000787833RCV002530696

NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp) SNV
Germline
Chr6:64886797 Conflicting classifications of pathogenicity Retinitis pigmentosa 25
Condition: not provided
not specified
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_762212630

4 SubmittersRCV000669963RCV001244052RCV003488795RCV003889957

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

9 SubmittersRCV000664501RCV000793723RCV000780339RCV001698770

NM_152419.3(HGSNAT):c.1614-2A>T SNV
Germline
Chr8:43197838 Likely pathogenic Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1554537807

4 SubmittersRCV000672832RCV001855586RCV003489791RCV004817902

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 SubmittersRCV000672518RCV001383039

NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) SNV
Germline
Chr8:43178169 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Multiple Submitters
No Conflicts
rs_1554533211

3 SubmittersRCV000668961RCV001264578RCV001855511

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 SubmittersRCV000666423RCV001383040RCV002254940

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 SubmittersRCV000674664RCV001868282RCV002282322

NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter) SNV
Germline
Chr8:43197900 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Multiple Submitters
No Conflicts
rs_1554537841

2 SubmittersRCV000669029RCV003767971

NM_152419.3(HGSNAT):c.1129-2A>T SNV
Germline
Chr8:43191472 Likely pathogenic Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Multiple Submitters
No Conflicts
rs_749568919

3 SubmittersRCV000670012RCV001069675

NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) SNV
Germline
Chr8:43196949 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Conflicting Classifications
rs_1554537586

2 SubmittersRCV000669280RCV001390807

NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) SNV
Germline
Chr8:43196999 Pathogenic Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Condition: not provided
Sanfilippo syndrome
Retinitis pigmentosa 73
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_747240928

8 SubmittersRCV000667348RCV001040598RCV001556095RCV002222590RCV004760686RCV004817877

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 SubmittersRCV000670649RCV001724126RCV001861797

NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr) SNV
Germline
Chr15:71817646 Conflicting classifications of pathogenicity Enhanced S-cone syndrome
Retinitis pigmentosa 37
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_199564404

4 SubmittersRCV000668213RCV002532069RCV004817883

NM_014249.4(NR2E3):c.1101-10T>C SNV
Germline
Chr15:71817542 Conflicting classifications of pathogenicity Enhanced S-cone syndrome
Retinitis pigmentosa 37
Condition: not provided
Enhanced S-cone syndrome
Criteria Provided
Conflicting Classifications
rs_763647845

3 SubmittersRCV000674671RCV000896041RCV001835913

NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter) SNV
Germline
Chr16:56497063 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_201063733

5 SubmittersRCV000668757RCV000806329RCV002507165

NM_031885.5(BBS2):c.534+1G>T SNV
Germline
Chr16:56510858 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_773862084

11 SubmittersRCV000669469RCV000694960RCV000762968RCV001075332RCV001784258

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
BBS2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_762047808

8 SubmittersRCV000665245RCV000802962RCV002507153RCV004732987

NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) SNV
Germline
Chr16:56502799 Pathogenic Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Retinal dystrophy
BBS2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_764164384

12 SubmittersRCV000667444RCV000808886RCV001528280RCV002499159RCV003889949RCV004732990

NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) SNV
Germline
Chr16:56506137 Pathogenic Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Condition: not provided
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Retinal dystrophy
BBS2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_779690256

10 SubmittersRCV000669549RCV000815857RCV001597198RCV002507167RCV003889955RCV004544929

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 SubmittersRCV000672394RCV001417193

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 SubmittersRCV000677195RCV001257803

NM_000329.3(RPE65):c.718G>T (p.Val240Phe) SNV
Germline
Chr1:68439568 Likely pathogenic Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Retinitis pigmentosa 20
Criteria Provided
Multiple Submitters
No Conflicts
rs_192907397

4 SubmittersRCV001244442RCV000754973RCV003232070

NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) SNV
Germline
Chr1:68446713 Pathogenic Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Leber congenital amaurosis 2
Condition: not provided
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_1429137932

6 SubmittersRCV000754977RCV001053470RCV001098873RCV001098872RCV001756143RCV004527393

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 SubmittersRCV000678655RCV001814216RCV003459648RCV003558534

NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe) SNV
Germline
Chr1:215970656 Pathogenic/Likely pathogenic Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_748983904

4 SubmittersRCV000678654RCV003558533RCV004817921

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 SubmittersRCV000678653RCV001042036RCV001724131RCV002283505RCV002469254

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 Pathogenic Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_1395763356

4 SubmittersRCV000678615RCV001868293RCV004702311RCV004801924

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
Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 25
EYS-related disorder
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_868349465

9 SubmittersRCV000678568RCV001034750RCV001257882RCV002499195RCV004751660RCV004817916

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 SubmittersRCV000678561RCV001701433

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 SubmittersRCV000787688RCV000678609

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
Retinal dystrophy
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Criteria Provided
Conflicting Classifications
rs_771551785

4 SubmittersRCV000678552RCV001074637RCV002531393

NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) SNV
Germline
Chr19:54126582 Conflicting classifications of pathogenicity Retinitis pigmentosa 11
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_750340477

6 SubmittersRCV000678605RCV001074752RCV001584548

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 SubmittersRCV000678604RCV002532180

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 SubmittersRCV000679847RCV001068678RCV001291497RCV003459653

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 SubmittersRCV000680443RCV001383777RCV003465549

NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser) SNV
Germline
Chr1:197427873 Pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_776591659

3 SubmittersRCV000684930RCV001542641RCV003472183

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

8 SubmittersRCV000691673RCV001539674RCV002233230

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 Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Criteria Provided
Single Submitter
rs_1559679965

1 SubmittersRCV000698473

NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter) SNV
Germline
Chr8:43169216 Pathogenic Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1563366896

3 SubmittersRCV000689696RCV000780340RCV004817927

NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) SNV
Germline
Chr16:1583369 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Renal cyst
Criteria Provided
Multiple Submitters
No Conflicts
rs_140039128

5 SubmittersRCV000704469RCV001724143RCV001535954RCV003411642RCV004788137

NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) SNV
Germline
Chr8:43197848 Pathogenic/Likely pathogenic Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Mucopolysaccharidosis, MPS-III-C
Sanfilippo syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_756310864

6 SubmittersRCV000689608RCV001074231RCV001358677RCV003323688

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
Joubert syndrome 10
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_763219658

4 SubmittersRCV000692393RCV000766073RCV003330905RCV003133533

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 SubmittersRCV000690887RCV000764234RCV001815429

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 SubmittersRCV000735917RCV001724144RCV003106027

NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr) SNV
Germline
Chr1:197429570 Conflicting classifications of pathogenicity Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Conflicting Classifications
rs_1558133731

2 SubmittersRCV000754590RCV002532969

NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) SNV
Germline
Chr1:68439224 Pathogenic Congenital isolated adrenocorticotropic hormone deficiency
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa
Leber congenital amaurosis 2
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_988133284

5 SubmittersRCV000754599RCV001382566RCV001731903RCV004569407RCV004817950

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

3 SubmittersRCV000714591RCV000714592

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 SubmittersRCV000714966RCV001862010

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 SubmittersRCV000723361RCV001034602

NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly) SNV
Germline
Chr16:1557974 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_144938800

5 SubmittersRCV000728408RCV000813538RCV002477684RCV004753015RCV004817955

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

7 SubmittersRCV000728997RCV001073452RCV002536421RCV004546559

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 SubmittersRCV000729000RCV001153812RCV001512641

NM_000329.3(RPE65):c.94+10G>A SNV
Germline
Chr1:68448614 Conflicting classifications of pathogenicity Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Criteria Provided
Conflicting Classifications
rs_777879312

3 SubmittersRCV000729049RCV001468497RCV001825450

NM_206933.4(USH2A):c.4943T>C (p.Leu1648Pro) SNV
Germline
Chr1:216086763 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
not specified
Criteria Provided
Conflicting Classifications
rs_1558251712

5 SubmittersRCV000729471RCV001199797RCV003461003RCV004702375

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 SubmittersRCV000729677RCV001825455

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
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_756658659

7 SubmittersRCV000729715RCV000778676RCV001196773RCV001265204RCV004817958

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 SubmittersRCV000731746RCV001197867RCV002279505

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 SubmittersRCV000732343RCV002499364

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 SubmittersRCV000735858RCV003660832

NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile) SNV
Germline
Chr1:197421120 Conflicting classifications of pathogenicity Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_751691851

4 SubmittersRCV000755992RCV001049610RCV001825490RCV004027122

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 SubmittersRCV000757462RCV001136225

NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr) SNV
Germline
Chr2:96283577 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_199736893

4 SubmittersRCV001141440RCV000756672RCV003889973

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 SubmittersRCV000758197RCV001043442RCV001075396RCV001003028

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 SubmittersRCV000760151RCV002533833

NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter) SNV
Germline
Chr1:197356926 Pathogenic Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
rs_778627080

5 SubmittersRCV000760354RCV001236260RCV001250592RCV003453569

NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter) SNV
Germline
Chr1:215634667 Pathogenic Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_758660532

7 SubmittersRCV000760346RCV001074647RCV001825506RCV003324534RCV003453567

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 SubmittersRCV000760347RCV003453568RCV003461016

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 SubmittersRCV000760647RCV003453570RCV004569425

NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter) SNV
Germline
Chr1:216247101 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_777629750

4 SubmittersRCV000760648RCV003453572RCV003453571

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 SubmittersRCV000760350RCV003461017

NM_006269.2(RP1):c.1625C>G (p.Ser542Ter) SNV
Germline
Chr8:54625507 Pathogenic Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_779334655

4 SubmittersRCV000760408RCV000988060

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 SubmittersRCV000760699RCV001535430

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 SubmittersRCV000760910RCV000984530

NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) SNV
Germline
Chr16:1526057 Likely pathogenic Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_144513458

3 SubmittersRCV000760741RCV002500984RCV004753029

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 SubmittersRCV000760987RCV002533857

NM_006017.3(PROM1):c.1301+2T>C SNV
Germline
Chr4:16008947 Pathogenic/Likely pathogenic Cone-rod dystrophy 12
Cone-rod dystrophy
Condition: not provided
Retinitis pigmentosa 41
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_775957498

8 SubmittersRCV000761332RCV001199727RCV001093373RCV001592948RCV004817970

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 SubmittersRCV000761516RCV002508787

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 SubmittersRCV000761615RCV003988855

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 SubmittersRCV000761696RCV001199817

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 SubmittersRCV000761700RCV001199799

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 SubmittersRCV000761701RCV001199798

NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg) SNV
Germline
Chr1:216231993 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_1171264735

5 SubmittersRCV004768631RCV003461021RCV000761703RCV001199793

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 SubmittersRCV000761705RCV001199792

NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu) SNV
Germline
Chr1:94031836 Pathogenic Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_552517556

4 SubmittersRCV000761667RCV004564474RCV004800573

NM_001278293.3(ARL6):c.361C>T (p.Arg121Cys) SNV
Germline
Chr3:97788001 Conflicting classifications of pathogenicity Condition: not provided
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
not specified
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_202044896

4 SubmittersRCV000762374RCV001372569RCV004702398RCV004817978

NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) SNV
Germline
Chr6:135394853 Pathogenic/Likely pathogenic Condition: not provided
Joubert syndrome 3
Retinitis pigmentosa
Familial aplasia of the vermis
Retinal dystrophy
Joubert syndrome and related disorders
Criteria Provided
Multiple Submitters
No Conflicts
rs_777215595

9 SubmittersRCV000762434RCV001785719RCV001002862RCV001237047RCV001073854RCV004702399

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

8 SubmittersRCV000762414RCV000787601RCV001073470RCV002249466

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 SubmittersRCV000762418RCV001274884RCV002493393

NM_178857.6(RP1L1):c.3022C>T (p.Gln1008Ter) SNV
Germline
Chr8:10611076 Conflicting classifications of pathogenicity Retinitis pigmentosa 88
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_756996764

3 SubmittersRCV001027882RCV000762488RCV004817982

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 SubmittersRCV000761935RCV001199435

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 SubmittersRCV000761976RCV001199517

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 SubmittersRCV000762192RCV001199519

NM_015629.4(PRPF31):c.1140C>T (p.Phe380=) SNV
Germline
Chr19:54128371 Conflicting classifications of pathogenicity Retinitis pigmentosa 11
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1411083098

5 SubmittersRCV001002240RCV001074858RCV000762038

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

4 SubmittersRCV000767356RCV001003166RCV001366656

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 SubmittersRCV000767359RCV001199742

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 SubmittersRCV000767360RCV003558565

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 Leber congenital amaurosis
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified
CRB1-related disorder
Criteria Provided
Conflicting Classifications
rs_137853136

5 SubmittersRCV001825517RCV001073728RCV001201620RCV003323720RCV004527798

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 SubmittersRCV000778221RCV001049330RCV001099202RCV003453611RCV003889976

NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) SNV
Germline
Chr1:94019665 Conflicting classifications of pathogenicity Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 1
Retinal dystrophy
Cone-rod dystrophy
ABCA4-related disorder
Retinitis pigmentosa 19
Criteria Provided
Conflicting Classifications
rs_771038310

9 SubmittersRCV000994038RCV002267624RCV003322616RCV001074860RCV001199620RCV000779001RCV004760780

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 SubmittersRCV000779383RCV001090667RCV001150104

NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter) SNV
Germline
Chr4:47936567 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
not specified
Criteria Provided
Conflicting Classifications
rs_750954043

4 SubmittersRCV001381268RCV000778729RCV003489863

NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter) SNV
Germline
Chr4:662218 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
PDE6B-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_772057239

5 SubmittersRCV001724153RCV001234473RCV001075255RCV004527806

NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter) SNV
Germline
Chr6:10770205 Conflicting classifications of pathogenicity Retinitis pigmentosa 62
Retinitis pigmentosa
Condition: not provided
MAK-related disorder
Criteria Provided
Conflicting Classifications
rs_186643840

5 SubmittersRCV004796306RCV000779484RCV003768450RCV004758729

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 SubmittersRCV000779514RCV000791712RCV001074431RCV003467306

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 SubmittersRCV000778922RCV001248752RCV001830668RCV003889977

NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) SNV
Germline
Chr6:65494679 Pathogenic Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1562220891

5 SubmittersRCV000778798RCV003465708RCV003688882RCV004817991

NM_000440.3(PDE6A):c.2275-1G>A SNV
Germline
Chr5:149866254 Pathogenic/Likely pathogenic Retinitis pigmentosa
Retinitis pigmentosa 43
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1428612396

3 SubmittersRCV000778760RCV004808875RCV001064857

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 SubmittersRCV000778474RCV001379338

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 SubmittersRCV000779345RCV003669171

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 SubmittersRCV000785178RCV001578969RCV002535724

NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) SNV
Germline
Chr4:15989758 Pathogenic Retinitis pigmentosa 41
Condition: not provided
Retinal dystrophy
Cone-rod dystrophy 12
Criteria Provided
Multiple Submitters
No Conflicts
rs_530749007

7 SubmittersRCV000784975RCV001093370RCV003889979RCV004796310

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 SubmittersRCV000785958RCV001052650

NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) SNV
Germline
Chr1:197427555 Pathogenic/Likely pathogenic Leber congenital amaurosis
Leber congenital amaurosis 8
Early-onset retinal dystrophy
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_150412614

11 SubmittersRCV001002994RCV001250600RCV000786007RCV001075564RCV001869175RCV003453619RCV003453620

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 SubmittersRCV000786945RCV003992391

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 Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1271816211

6 SubmittersRCV000787575RCV000795927RCV001250596RCV001830677RCV001766622

NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) SNV
Germline
Chr1:197434984 Pathogenic/Likely pathogenic Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_781705903

4 SubmittersRCV000787580RCV001869189RCV003472323RCV004818003

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
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_201863550

9 SubmittersRCV000787741RCV001004145RCV003226391RCV003453626RCV001091130RCV001073611

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 SubmittersRCV000787730RCV001370945

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
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_771000800

7 SubmittersRCV000787723RCV003453625RCV001046264RCV001074359

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 SubmittersRCV000787488RCV002466581

NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) SNV
Germline
Chr2:111929403 Pathogenic/Likely pathogenic Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 38
MERTK-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_772421550

5 SubmittersRCV000787624RCV001074011RCV001230244RCV002501026RCV004756037

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

11 SubmittersRCV000787717RCV001002103RCV001042854RCV003889983

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 Pathogenic/Likely pathogenic Retinitis pigmentosa
Retinitis pigmentosa 4
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_768210562

4 SubmittersRCV000787684RCV001265161RCV001387000RCV003889982

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 SubmittersRCV000787686RCV001873211

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 SubmittersRCV000787676RCV001042727

NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter) SNV
Germline
Chr4:15980450 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Cone-rod dystrophy 12
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_766357803

4 SubmittersRCV000787650RCV001388262RCV003225955RCV004818009

NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys) SNV
Germline
Chr4:626011 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 40
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_749657417

6 SubmittersRCV000787647RCV001073444RCV001198798RCV001873210

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 SubmittersRCV000787620RCV001388822

NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter) SNV
Germline
Chr6:42704517 Pathogenic Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Single Submitter
rs_61755811

3 SubmittersRCV000787667RCV001530251RCV004818011

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 SubmittersRCV000787603RCV001227263RCV001830678

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

4 SubmittersRCV000787598RCV002535753RCV003467320

NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) SNV
Germline
Chr6:64912597 Pathogenic Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_74419361

9 SubmittersRCV000787592RCV001041783RCV001376444RCV003889981

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_000883.4(IMPDH1):c.962C>T (p.Ala321Val) SNV
Germline
Chr7:128398526 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_1584728088

4 SubmittersRCV000787618RCV001560022RCV004818005

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 SubmittersRCV000787690RCV002294381

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 SubmittersRCV000787692RCV002535754

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
Germline
Chr8:54628458 Pathogenic Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Single Submitter
rs_1585567204

2 SubmittersRCV000787696RCV004794455

NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) SNV
Germline
Chr14:67725137 Pathogenic/Likely pathogenic Retinitis pigmentosa
Leber congenital amaurosis
Leber congenital amaurosis 13
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_368489658

5 SubmittersRCV000787671RCV001830679RCV001377219RCV004818012

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

5 SubmittersRCV000787706RCV001075872RCV001856213RCV002464319

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 Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_754970095

8 SubmittersRCV001091128RCV000787742RCV001830680RCV004818014RCV003461062

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 Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Single Submitter
rs_1578097528

2 SubmittersRCV001075335RCV000787651

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 SubmittersRCV000787638RCV001073345RCV001229110

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
Germline
Chr5:149934564 Pathogenic Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Single Submitter
rs_1581211727

2 SubmittersRCV000787642RCV004818008

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 SubmittersRCV000787529RCV001869188

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 Retinitis pigmentosa 25
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1287889008

5 SubmittersRCV001592964RCV000787590RCV001047358

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 SubmittersRCV000787697RCV001092030

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 SubmittersRCV000787532RCV000787786

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
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1600340117

3 SubmittersRCV000787654RCV001856212RCV004818010

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
not specified
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_770756678

4 SubmittersRCV000787900RCV003330950RCV002535760RCV004818026

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 SubmittersRCV000787926RCV001873212RCV003467322

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 SubmittersRCV000787894RCV001869195

NM_000329.3(RPE65):c.329A>G (p.Asp110Gly) SNV
Germline
Chr1:68444800 Pathogenic Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_1571170561

3 SubmittersRCV000787882RCV002535759RCV004595858

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
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1302809734

3 SubmittersRCV000787917RCV001058099RCV001075504

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 SubmittersRCV000787870RCV001530370RCV001869193

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

6 SubmittersRCV000787834RCV001225106RCV001830681

NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) SNV
Germline
Chr7:128394552 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_144498273

6 SubmittersRCV000878134RCV000787840RCV001159891RCV004818020

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 Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_148296108

5 SubmittersRCV001204614RCV004818024RCV000787878

NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser) SNV
Germline
Chr10:71704944 Conflicting classifications of pathogenicity Retinitis pigmentosa
Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_560251790

3 SubmittersRCV000787908RCV002487623RCV002535761

NM_002905.5(RDH5):c.208C>T (p.Arg70Trp) SNV
Germline
Chr12:55721392 Conflicting classifications of pathogenicity Retinitis pigmentosa
Pigmentary retinal dystrophy
Condition: not provided
Retinal dystrophy
Optic atrophy
Criteria Provided
Conflicting Classifications
rs_1058635

4 SubmittersRCV000787875RCV001198888RCV001323576RCV004818022RCV004818023

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_001034853.2(RPGR):c.492G>T (p.Trp164Cys) SNV
Germline
ChrX:38317443 Likely pathogenic Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Single Submitter
rs_62638648

2 SubmittersRCV000787884RCV004818025

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
Cone-rod dystrophy 12
Stargardt disease 4
Retinal macular dystrophy type 2
Criteria Provided
Conflicting Classifications
rs_370302107

3 SubmittersRCV000787863RCV000895051RCV001146547RCV001146548RCV001149316

NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter) SNV
Germline
Chr8:43182180 Pathogenic Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Criteria Provided
Multiple Submitters
No Conflicts
rs_752939204

3 SubmittersRCV000791142RCV003889987RCV003768479

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 SubmittersRCV000791320RCV001387204RCV003467324

NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter) SNV
Germline
Chr1:197427750 Pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Single Submitter
rs_1571540037

1 SubmittersRCV000801518

NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter) SNV
Germline
Chr1:197434900 Pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_143511261

3 SubmittersRCV000817389RCV001250612

NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter) SNV
Germline
Chr1:197477826 Pathogenic/Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_763324776

3 SubmittersRCV000816727RCV003446450RCV003473495

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 SubmittersRCV000820938RCV001830806RCV003473510

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

3 SubmittersRCV000799208RCV003461113

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 SubmittersRCV000819794RCV001276249RCV002507436RCV003453722RCV003889991

NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) SNV
Germline
Chr1:68431509 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_774130993

8 SubmittersRCV000817537RCV001089892RCV001075233RCV001593012RCV001830793RCV003461248

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 SubmittersRCV000812586RCV001825629

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 SubmittersRCV000797385RCV001002944RCV001825560

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 SubmittersRCV000823214RCV001277038

NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) SNV
Germline
Chr6:64945794 Pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 25
EYS-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_371032798

10 SubmittersRCV000805595RCV001073821RCV001276904RCV001376318RCV004751720

NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter) SNV
Germline
Chr8:43146993 Pathogenic Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Single Submitter
rs_1586698317

1 SubmittersRCV000807281

NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) SNV
Germline
Chr12:88071859 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Joubert syndrome 1
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
Retinitis pigmentosa
CEP290-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_778030031

6 SubmittersRCV000815985RCV000988881RCV002495153RCV003467476RCV003324535RCV004733054

NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) SNV
Germline
Chr14:67733780 Pathogenic/Likely pathogenic Condition: not provided
Leber congenital amaurosis 13
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_200387832

8 SubmittersRCV001171676RCV000811812RCV000993757RCV001074674

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 SubmittersRCV000803457RCV001830736RCV003461145

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 SubmittersRCV000803173RCV001835968

NM_001142800.2(EYS):c.1766+1G>T SNV
Germline
Chr6:65334979 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_776204925

6 SubmittersRCV000792622RCV001260372RCV001830688RCV004818032

NM_001142800.2(EYS):c.7228+1G>A SNV
Germline
Chr6:63864185 Pathogenic Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_758899480

9 SubmittersRCV000815788RCV001271841RCV001376457RCV004818051

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 SubmittersRCV000817411RCV001272869

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 SubmittersRCV000818216RCV001276910RCV003467486

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 SubmittersRCV000826081RCV001075373RCV001858416RCV003453758RCV003453757

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
Stargardt disease 4
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_375358457

3 SubmittersRCV000844932RCV001146424RCV001146425RCV001146426RCV000908779RCV001146427

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 SubmittersRCV000845027RCV001074241RCV001387025

NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) SNV
Germline
Chr1:94001919 Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Condition: not provided
Cone-rod dystrophy 3
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Criteria Provided
Conflicting Classifications
rs_367839100

7 SubmittersRCV000850519RCV001234782RCV001262439RCV001074418RCV002051899RCV004733063

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 Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_61751223

5 SubmittersRCV000877808RCV001162852RCV001162853RCV004818072

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 SubmittersRCV000946503RCV001097416RCV001097417

NM_022367.4(SEMA4A):c.1682G>A (p.Arg561His) SNV
Germline
Chr1:156175645 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy 10
Criteria Provided
Conflicting Classifications
rs_146011929

2 SubmittersRCV000946504RCV001099382RCV001099381

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 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Leber congenital amaurosis
Criteria Provided
Conflicting Classifications
rs_200379694

3 SubmittersRCV000951452RCV001099307RCV001099306RCV001099308RCV001271902

NM_000329.3(RPE65):c.942C>T (p.His314=) SNV
Germline
Chr1:68438998 Conflicting classifications of pathogenicity Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis
Criteria Provided
Conflicting Classifications
rs_752875512

3 SubmittersRCV000952170RCV001102428RCV001102429RCV001836036

NM_000329.3(RPE65):c.102C>A (p.Ile34=) SNV
Germline
Chr1:68446853 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Criteria Provided
Conflicting Classifications
rs_146357166

3 SubmittersRCV000949153RCV001100686RCV001084737RCV001100685

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 SubmittersRCV000948639RCV001140323RCV001139558RCV004533633

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
IFT172-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_186020523

4 SubmittersRCV000952543RCV003141904RCV004553411RCV003890109

NM_015662.3(IFT172):c.4274G>A (p.Gly1425Asp) SNV
Germline
Chr2:27449331 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Criteria Provided
Conflicting Classifications
rs_139560074

3 SubmittersRCV002251536RCV000945848RCV004553381

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 SubmittersRCV000952490RCV001136595

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 SubmittersRCV000952659RCV001156275RCV001156276RCV003890110

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 SubmittersRCV000951821RCV001160000RCV001159999RCV001700518RCV003890105

NM_000883.4(IMPDH1):c.189A>G (p.Ser63=) SNV
Germline
Chr7:128409442 Conflicting classifications of pathogenicity Condition: not provided
Leber congenital amaurosis 11
Retinitis pigmentosa
IMPDH1-related disorder
Criteria Provided
Conflicting Classifications
rs_143796089

4 SubmittersRCV000945885RCV001165040RCV001165039RCV004735905

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 SubmittersRCV000950571RCV001123502

NM_201253.3(CRB1):c.161G>T (p.Cys54Phe) SNV
Germline
Chr1:197328512 Conflicting classifications of pathogenicity Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
CRB1-related disorder
Criteria Provided
Conflicting Classifications
rs_140428156

3 SubmittersRCV000964696RCV001100910RCV001100639RCV001100909RCV004543616

NM_201253.3(CRB1):c.2874C>T (p.Ser958=) SNV
Germline
Chr1:197434737 Conflicting classifications of pathogenicity Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_372778560

3 SubmittersRCV001097541RCV001097542RCV001271900RCV000964760RCV001099305

NM_006343.3(MERTK):c.986A>G (p.Asn329Ser) SNV
Germline
Chr2:111975314 Conflicting classifications of pathogenicity Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_34943572

3 SubmittersRCV003890123RCV001131836RCV000964245

NM_201548.5(CERKL):c.102G>T (p.Thr34=) SNV
Germline
Chr2:181656905 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 26
Retinitis pigmentosa
not specified
Criteria Provided
Conflicting Classifications
rs_149346187

6 SubmittersRCV000963268RCV001271351RCV001138254RCV001700953

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 SubmittersRCV000974177RCV001140232RCV001140233RCV004543637

NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) SNV
Germline
Chr2:233342315 Conflicting classifications of pathogenicity Retinitis pigmentosa
Oguchi disease
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_112613526

5 SubmittersRCV001140416RCV001140417RCV001001987RCV000974953

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 SubmittersRCV000961395RCV001139035

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
TRNT1-related disorder
Condition: not provided
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Retinitis pigmentosa and erythrocytic microcytosis
Criteria Provided
Conflicting Classifications
rs_187921784

4 SubmittersRCV000966690RCV004553460RCV004569820RCV002066402

NM_006017.3(PROM1):c.1751A>G (p.His584Arg) SNV
Germline
Chr4:15994003 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12
PROM1-related disorder
Criteria Provided
Conflicting Classifications
rs_140027620

3 SubmittersRCV000969187RCV001150809RCV001150810RCV001150811RCV001150812RCV004535951

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 SubmittersRCV000964993RCV001156436

NM_003322.6(TULP1):c.603G>A (p.Gly201=) SNV
Germline
Chr6:35509749 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 15
Criteria Provided
Conflicting Classifications
rs_117920214

3 SubmittersRCV000960806RCV001157949RCV001157950

NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) SNV
Germline
Chr6:65344041 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_61753611

7 SubmittersRCV000971526RCV001000461RCV001162939

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 SubmittersRCV001105544RCV000963252

NM_000329.3(RPE65):c.1154C>T (p.Thr385Met) SNV
Germline
Chr1:68431560 Conflicting classifications of pathogenicity Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Leber congenital amaurosis 2
Retinal dystrophy
RPE65-related disorder
Criteria Provided
Conflicting Classifications
rs_201379753

5 SubmittersRCV000884725RCV001098674RCV001098673RCV003890011RCV004530925

NM_000541.5(SAG):c.231C>T (p.Asp77=) SNV
Germline
Chr2:233320679 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Oguchi disease
Criteria Provided
Conflicting Classifications
rs_79922016

2 SubmittersRCV000892539RCV001137318RCV001137317

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 SubmittersRCV000893362RCV001139557

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 SubmittersRCV000891726RCV001142169RCV001142170RCV004530973

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 SubmittersRCV000884420RCV001142171RCV001142172RCV001700487RCV004530924

NM_001029883.3(PCARE):c.2502T>C (p.Pro834=) SNV
Germline
Chr2:29071760 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Optic atrophy
Criteria Provided
Conflicting Classifications
rs_184644658

5 SubmittersRCV000887335RCV003890015RCV001136693RCV004818074

NM_001201543.2(FAM161A):c.817G>A (p.Glu273Lys) SNV
Germline
Chr2:61840187 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 28
Criteria Provided
Conflicting Classifications
rs_6733774

3 SubmittersRCV000888451RCV001138426RCV001274724

NM_006017.3(PROM1):c.714A>G (p.Gly238=) SNV
Germline
Chr4:16023396 Conflicting classifications of pathogenicity Condition: not provided
not specified
Retinitis pigmentosa
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Stargardt disease 4
PROM1-related disorder
Criteria Provided
Conflicting Classifications
rs_201662148

4 SubmittersRCV000890690RCV001000892RCV001147062RCV001147063RCV001147060RCV001147061RCV004735870

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 SubmittersRCV000894758RCV001162623RCV003958016

NM_001142800.2(EYS):c.2598C>T (p.Cys866=) SNV
Germline
Chr6:64912527 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_183814213

6 SubmittersRCV000882507RCV001162838RCV001274985

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 SubmittersRCV000888244RCV001161513RCV001279311

NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=) SNV
Germline
Chr7:128394482 Conflicting classifications of pathogenicity Condition: not provided
Leber congenital amaurosis 11
Retinitis pigmentosa
not specified
Criteria Provided
Conflicting Classifications
rs_201803921

4 SubmittersRCV000883210RCV001164810RCV001164811RCV001701347

NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) SNV
Germline
Chr8:43191595 Conflicting classifications of pathogenicity Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
not specified
Inborn genetic diseases
HGSNAT-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_200750044

7 SubmittersRCV000892647RCV001275632RCV003890021RCV003994149RCV004028422RCV003950410RCV004792572

NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys) SNV
Germline
Chr8:43199420 Conflicting classifications of pathogenicity Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Inborn genetic diseases
HGSNAT-related disorder
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
rs_202128129

6 SubmittersRCV000892648RCV001275637RCV002540108RCV003940720RCV004792573RCV003994150

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 SubmittersRCV000884795RCV001114991

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 SubmittersRCV000893008RCV001117275RCV003890023

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 SubmittersRCV000903037RCV001099277RCV001099278RCV003890036

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 SubmittersRCV000901729RCV001097623RCV001099380RCV003910760

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 SubmittersRCV000903592RCV001097079RCV001097080

NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu) SNV
Germline
Chr1:26469037 Conflicting classifications of pathogenicity Retinitis pigmentosa 59
Retinitis pigmentosa
Condition: not provided
not specified
Inborn genetic diseases
Retinal dystrophy
DHDDS-related disorder
Criteria Provided
Conflicting Classifications
rs_141852437

8 SubmittersRCV000904699RCV001099449RCV001355627RCV001532941RCV002540223RCV003890042RCV003932889

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 SubmittersRCV000910023RCV001142623

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 SubmittersRCV000903707RCV001137877RCV001701246RCV003890040

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 SubmittersRCV000900177RCV001143264

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 SubmittersRCV000906287RCV001142753RCV003890047

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 SubmittersRCV000903012RCV001138010RCV001274722

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 SubmittersRCV000910359RCV001145347

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 SubmittersRCV000895938RCV001145440RCV003890027

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
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_143908642

4 SubmittersRCV000895003RCV001151136RCV001151137RCV004530995RCV004958238

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 SubmittersRCV000909718RCV001152436

NM_000440.3(PDE6A):c.316G>A (p.Ala106Thr) SNV
Germline
Chr5:149944358 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
PDE6A-related disorder
Criteria Provided
Conflicting Classifications
rs_200696413

4 SubmittersRCV000903187RCV001152640RCV003890038RCV004740499

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 SubmittersRCV000910366RCV001154774

NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val) SNV
Germline
Chr6:64081892 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
EYS-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_148019592

6 SubmittersRCV000906578RCV001272975RCV001164565RCV003958237RCV004973157

NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp) SNV
Germline
Chr6:64590238 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Criteria Provided
Conflicting Classifications
rs_139822086

5 SubmittersRCV000898699RCV001161047RCV001272983

NM_001142800.2(EYS):c.4264A>T (p.Thr1422Ser) SNV
Germline
Chr6:64591603 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_200318120

5 SubmittersRCV000898700RCV001161169RCV001274979RCV002540173

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

7 SubmittersRCV000896805RCV001164783RCV001563745RCV003890028

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 SubmittersRCV000899198RCV001158306RCV001729740

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 SubmittersRCV000908170RCV001075365RCV001277022RCV002540772RCV003977946

NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=) SNV
Germline
Chr7:128394488 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11
Criteria Provided
Conflicting Classifications
rs_139785999

2 SubmittersRCV000904634RCV001164813RCV001164812

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 SubmittersRCV000901175RCV001159325

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 SubmittersRCV000896345RCV001107520

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

7 SubmittersRCV000899321RCV001593127RCV003141892RCV003910717

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 SubmittersRCV000902968RCV001127368

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 SubmittersRCV000923293RCV001097714RCV001097715RCV003970508

NM_000329.3(RPE65):c.783G>T (p.Leu261=) SNV
Germline
Chr1:68439266 Conflicting classifications of pathogenicity Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_188493184

4 SubmittersRCV000922726RCV001098759RCV001098760RCV001275284RCV003890070

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 SubmittersRCV000927269RCV001142999RCV001271346

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 SubmittersRCV000915749RCV001143153

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 SubmittersRCV000912740RCV001153714

NM_001142800.2(EYS):c.7609G>A (p.Ala2537Thr) SNV
Germline
Chr6:63788219 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
EYS-related disorder
Retinitis pigmentosa 25
Criteria Provided
Conflicting Classifications
rs_189406424

5 SubmittersRCV000920814RCV003890067RCV004751820RCV004796334

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 SubmittersRCV000918023RCV001162535

NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp) SNV
Germline
Chr8:43196978 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Conflicting Classifications
rs_200238482

2 SubmittersRCV000923388RCV001160693

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 SubmittersRCV000913898RCV001158393

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 SubmittersRCV000926464RCV001158611

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 SubmittersRCV000924997RCV001165482

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 SubmittersRCV000916154RCV001119924RCV001119923RCV001275381RCV003890063

NM_000329.3(RPE65):c.1338+8A>G SNV
Germline
Chr1:68431274 Conflicting classifications of pathogenicity Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_777211540

2 SubmittersRCV000912094RCV001102319RCV001102320

NM_000329.3(RPE65):c.95-10T>A SNV
Germline
Chr1:68446870 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_547374432

4 SubmittersRCV001100688RCV000926497RCV001100687RCV001729747

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 SubmittersRCV000912955RCV001075554RCV001832059

NM_152419.3(HGSNAT):c.851+10C>T SNV
Germline
Chr8:43173753 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Criteria Provided
Conflicting Classifications
rs_778394235

3 SubmittersRCV001159326RCV001400192

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 SubmittersRCV000912215RCV001124279RCV003902904

NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) SNV
Germline
Chr1:68431085 Pathogenic/Likely pathogenic Retinal dystrophy
Retinitis pigmentosa 87 with choroidal involvement
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 SubmittersRCV001074701RCV000927801RCV001034696RCV001068036RCV001376263RCV002279647RCV003117646

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 SubmittersRCV000928362RCV001330643RCV001276954

NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys) SNV
Germline
Chr1:215888503 Conflicting classifications of pathogenicity Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
rs_531822235

5 SubmittersRCV000940905RCV001276971RCV001073932RCV001578965

NM_000329.3(RPE65):c.375A>G (p.Gly125=) SNV
Germline
Chr1:68444651 Conflicting classifications of pathogenicity Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_992113946

4 SubmittersRCV000933065RCV001097115RCV001097116RCV001275287RCV003890087

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 SubmittersRCV000942689RCV001138255RCV001271352

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 SubmittersRCV000929335RCV001136591RCV003890082

NM_006017.3(PROM1):c.1279T>C (p.Leu427=) SNV
Germline
Chr4:16008971 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_200710798

2 SubmittersRCV000935482RCV001146867RCV001144915RCV001144917RCV001144916

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 SubmittersRCV000936533RCV001155048RCV001155049

NM_001142800.2(EYS):c.6822C>A (p.Ser2274=) SNV
Germline
Chr6:63999087 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1055095941

2 SubmittersRCV001164564RCV000940795

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 SubmittersRCV000930618RCV001159656RCV001826949

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 SubmittersRCV000938677RCV001162622RCV001280443

NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn) SNV
Germline
Chr6:64590634 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Autosomal recessive retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_145274061

3 SubmittersRCV001073827RCV000940680RCV001274973

NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr) SNV
Germline
Chr6:65353535 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
Retinal dystrophy
EYS-related disorder
Criteria Provided
Conflicting Classifications
rs_76754818

6 SubmittersRCV000942122RCV001277017RCV001162943RCV003890096RCV003903137

NM_001142800.2(EYS):c.716C>T (p.Ala239Val) SNV
Germline
Chr6:65494695 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
EYS-related disorder
Criteria Provided
Conflicting Classifications
rs_150140204

4 SubmittersRCV000933075RCV001161508RCV004751826

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 SubmittersRCV000938816RCV001103857

NM_014249.4(NR2E3):c.645C>T (p.Cys215=) SNV
Germline
Chr15:71812409 Conflicting classifications of pathogenicity Condition: not provided
Optic atrophy
Enhanced S-cone syndrome
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_375133059

4 SubmittersRCV000927870RCV004818081RCV001118390RCV001118391

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 SubmittersRCV000930222RCV001376386

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 SubmittersRCV001199229RCV001466667

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 SubmittersRCV000945772RCV001152398RCV001152399RCV001000630

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 SubmittersRCV000945395RCV001117274

NM_177965.4(CFAP418):c.155+8G>A SNV
Germline
Chr8:95269027 Conflicting classifications of pathogenicity Cone-rod dystrophy 16
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_377262548

2 SubmittersRCV001169699RCV000971378RCV001169698

NM_014249.4(NR2E3):c.349+7C>T SNV
Germline
Chr15:71811876 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 37
Retinitis pigmentosa
Enhanced S-cone syndrome
NR2E3-related disorder
Criteria Provided
Conflicting Classifications
rs_900547

4 SubmittersRCV000969301RCV001116840RCV001116841RCV001827055RCV004543626

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 SubmittersRCV000981691RCV003141905RCV003972988

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 SubmittersRCV000979291RCV001162970RCV004030018

NM_006269.2(RP1):c.5257T>C (p.Leu1753=) SNV
Germline
Chr8:54629139 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_199808222

2 SubmittersRCV001161830RCV000979395

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 SubmittersRCV000977342RCV001127370

NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter) SNV
Germline
Chr8:54627278 Pathogenic Retinitis pigmentosa 1
Autosomal recessive retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Single Submitter
rs_561075447

3 SubmittersRCV000985170RCV001257794RCV004794467

NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter) SNV
Germline
Chr15:76705971 Pathogenic Intellectual developmental disorder and retinitis pigmentosa
IDDRP
Criteria Provided
Single Submitter
rs_978336151

2 SubmittersRCV000984524

NM_020843.4(SCAPER):c.829C>T (p.Arg277Ter) SNV
Germline
Chr15:76775061 Likely pathogenic Intellectual developmental disorder and retinitis pigmentosa
IDDRP
No Assertion Criteria Provided
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 8
Leber congenital amaurosis 1
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
rs_1571878277

4 SubmittersRCV003454997RCV000986486RCV005001126RCV001858643RCV003454996

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 SubmittersRCV000986489RCV001339131

NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) SNV
Germline
Chr1:197435516 Pathogenic/Likely pathogenic Leber congenital amaurosis 1
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified
Criteria Provided
Multiple Submitters
No Conflicts
rs_1450635782

5 SubmittersRCV000986496RCV001726405RCV001824163RCV001858644RCV003331014

NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) SNV
Germline
Chr1:197442248 Likely pathogenic Leber congenital amaurosis 1
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
rs_62635649

7 SubmittersRCV000986497RCV001809876RCV002489456RCV003455006RCV003455005RCV003769294

NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu) SNV
Germline
Chr1:215628953 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_201513512

6 SubmittersRCV000986514RCV001328877RCV001041834RCV001074615

NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile) SNV
Germline
Chr1:215786672 Conflicting classifications of pathogenicity Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Criteria Provided
Conflicting Classifications
rs_1416602859

5 SubmittersRCV000986523RCV001247865RCV003473529RCV004586999

NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) SNV
Germline
Chr1:215888717 Pathogenic/Likely pathogenic Retinal dystrophy
Usher syndrome type 2A
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_1571783742

9 SubmittersRCV001075207RCV000986528RCV001381632RCV003324539RCV003455007RCV002503145

NM_206933.4(USH2A):c.2809+1G>A SNV
Germline
Chr1:216246584 Pathogenic Retinal dystrophy
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_759433119

5 SubmittersRCV001075468RCV000986541RCV003230611RCV003446564RCV001858646

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 SubmittersRCV000986548RCV001869337RCV003467540

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 SubmittersRCV000986327RCV001858636

NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) SNV
Germline
Chr1:68440936 Pathogenic Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
RPE65-related disorder
Leber congenital amaurosis
Retinitis pigmentosa
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_752058510

7 SubmittersRCV000986330RCV001219364RCV001585895RCV002255100RCV003324538RCV003324537RCV003769292

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
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_746291728

5 SubmittersRCV000986798RCV001389819RCV004818093

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 SubmittersRCV000986951RCV001203143

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 SubmittersRCV000986791RCV001858653

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 SubmittersRCV000987328RCV001858663

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
Germline
Chr3:129533606 Pathogenic/Likely pathogenic Retinitis pigmentosa 4
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1578281565

3 SubmittersRCV000987332RCV004818094RCV004726755

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 SubmittersRCV000987333RCV001378537

NM_006017.3(PROM1):c.1984-1G>T SNV
Germline
Chr4:15989825 Pathogenic Retinitis pigmentosa 41
Condition: not provided
Stargardt disease
Cone-rod dystrophy
Leber congenital amaurosis
PROM1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_373680665

6 SubmittersRCV000987420RCV001049161RCV002467454RCV003324540RCV003324541RCV004536013

NM_006017.3(PROM1):c.784+1G>A SNV
Germline
Chr4:16023325 Pathogenic/Likely pathogenic Retinitis pigmentosa 41
Retinal dystrophy
Condition: not provided
Stargardt disease
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
rs_745704627

5 SubmittersRCV000987424RCV001075553RCV001047807RCV002466264RCV003324543

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 SubmittersRCV000987425RCV001198630RCV001383311

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 SubmittersRCV000987445RCV001858667

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 SubmittersRCV000987386RCV002549679

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 SubmittersRCV000987388RCV001869344

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
Leber congenital amaurosis 15
Retinitis pigmentosa 14
Criteria Provided
Conflicting Classifications
rs_373519519

5 SubmittersRCV000987688RCV001301120RCV001809877RCV002271603RCV004796336

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 SubmittersRCV000987721RCV001858675

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 SubmittersRCV000987722RCV001869348

NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter) SNV
Germline
Chr6:64590417 Pathogenic Retinitis pigmentosa 25
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_983691310

3 SubmittersRCV000987724RCV001055116RCV001003021

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 SubmittersRCV000987727RCV001382289

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 SubmittersRCV000987728RCV001062996RCV001274881RCV003226411

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 SubmittersRCV000987731RCV002549684

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
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
not specified
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_779010679

5 SubmittersRCV000988892RCV001075119RCV001210117RCV003317407RCV003324546

NM_001297.5(CNGB1):c.1958-1G>A SNV
Germline
Chr16:57917477 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 45
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_888090139

5 SubmittersRCV000989611RCV001858711RCV002250710RCV001073842

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 SubmittersRCV000989678RCV003890147

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 SubmittersRCV000991050RCV001858731

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

3 SubmittersRCV000991055RCV001075718

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 SubmittersRCV000990777RCV002549752

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 SubmittersRCV000990782RCV001387577

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 SubmittersRCV000990805RCV001074033RCV001593168RCV002550621

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 SubmittersRCV000991310RCV001543581

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 SubmittersRCV000993537RCV002481758RCV001827140

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 SubmittersRCV000994094RCV001199730RCV003890149

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

5 SubmittersRCV000994139RCV001097513RCV001074915RCV001097512

NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr) SNV
Germline
Chr1:197429459 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
rs_1571544334

6 SubmittersRCV001199673RCV003769329RCV003455016RCV000994218RCV004800653

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 SubmittersRCV000994239RCV001170035

NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val) SNV
Germline
Chr1:216073279 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_760543320

3 SubmittersRCV000994249RCV001199800RCV004818111

NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys) SNV
Germline
Chr1:216323493 Conflicting classifications of pathogenicity Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Criteria Provided
Conflicting Classifications
rs_767209934

4 SubmittersRCV003467553RCV000994252RCV004587003

NM_006343.3(MERTK):c.1296+1G>A SNV
Germline
Chr2:111982994 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 38
Criteria Provided
Multiple Submitters
No Conflicts
rs_774577413

4 SubmittersRCV000997192RCV001724205RCV002249605

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 SubmittersRCV000997184RCV001199783

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 SubmittersRCV000997186RCV001199555

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
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa 41
Retinal macular dystrophy type 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_752619497

7 SubmittersRCV000998228RCV001075075RCV001352977RCV002497313RCV003987756

NM_006017.3(PROM1):c.677C>T (p.Ala226Val) SNV
Germline
Chr4:16024312 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
rs_376198840

3 SubmittersRCV001147961RCV001147962RCV001147963RCV001149511RCV000998230

NM_000440.3(PDE6A):c.1610T>C (p.Ile537Thr) SNV
Germline
Chr5:149896366 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_1581177868

2 SubmittersRCV000998466RCV001199493

NM_000440.3(PDE6A):c.743T>A (p.Val248Asp) SNV
Germline
Chr5:149931143 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_1581209421

2 SubmittersRCV000998467RCV001199498

NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) SNV
Germline
Chr6:63778093 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25
not specified
Criteria Provided
Conflicting Classifications
rs_368798160

11 SubmittersRCV001075538RCV000998641RCV001832315RCV004587008

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 SubmittersRCV000999035RCV001199745

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 SubmittersRCV000995161RCV001112200

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 SubmittersRCV000997011RCV001199733

NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter) SNV
Germline
ChrX:38285626 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_1601917052

3 SubmittersRCV001199554RCV000999390RCV003890153

NM_001034853.2(RPGR):c.2410A>T (p.Arg804Ter) SNV
Germline
ChrX:38286589 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_1601922877

2 SubmittersRCV000999393RCV001199538

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 SubmittersRCV001003069RCV001030780

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
RHO-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_1424131846

5 SubmittersRCV001001281RCV001041691RCV001265198RCV004756151

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

6 SubmittersRCV001002602RCV001073614RCV001213688RCV001265168

NM_006269.2(RP1):c.1380G>C (p.Lys460Asn) SNV
Germline
Chr8:54625262 Conflicting classifications of pathogenicity Retinitis pigmentosa 1
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_143494598

5 SubmittersRCV001000795RCV004818131RCV001301603RCV001163128

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 SubmittersRCV001121638RCV001000399RCV001425605

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 Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_1571848744

4 SubmittersRCV001074569RCV001377780RCV003455043RCV001002988RCV003455044

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Conflicting Classifications
rs_1266363944

3 SubmittersRCV001002992RCV001376464RCV002549196

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_768905244

5 SubmittersRCV001002993RCV001860526RCV001593178RCV003455045RCV003455046

NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp) SNV
Germline
Chr1:197427823 Pathogenic/Likely pathogenic Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1571540258

5 SubmittersRCV001002995RCV001250627RCV001862718RCV004818139

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 Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_746837034

5 SubmittersRCV001240871RCV001836060RCV003461305RCV001003252

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
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
USH2A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_368687374

12 SubmittersRCV001003278RCV001040831RCV001073915RCV002489511RCV001832324RCV003455049RCV003226415RCV004733108

NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp) SNV
Germline
Chr1:26442842 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 59
Retinitis pigmentosa 59
Developmental delay and seizures with or without movement abnormalities
Retinal dystrophy
not specified
Criteria Provided
Conflicting Classifications
rs_754564043

5 SubmittersRCV001003005RCV001862719RCV002481804RCV003890158RCV004768773

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

4 SubmittersRCV001002900RCV001205031

NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter) SNV
Germline
Chr2:29071312 Pathogenic Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_774215025

3 SubmittersRCV001002901RCV004818136RCV001860523

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 SubmittersRCV001003171RCV001229176RCV001265196

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 SubmittersRCV001003107RCV001809893RCV002549200

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 Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_759079269

3 SubmittersRCV001322243RCV001002953

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 SubmittersRCV001003111RCV002272384

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/Likely pathogenic Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_763272975

5 SubmittersRCV001003241RCV001073990RCV001093078

NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) SNV
Germline
Chr6:42698409 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
PRPH2-related disorder
Criteria Provided
Conflicting Classifications
rs_759011231

5 SubmittersRCV001003136RCV001530337RCV004818142RCV001860530

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 SubmittersRCV001003145RCV001530230

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 SubmittersRCV001003146RCV001379736RCV001530227RCV002250712

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 SubmittersRCV001003178RCV001073530RCV001380425

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 SubmittersRCV001003210RCV001862727

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 SubmittersRCV001003158RCV001597241

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 SubmittersRCV001003094RCV001379647RCV003461304

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 90
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_756712426

4 SubmittersRCV001255141RCV001862722RCV001003050

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 SubmittersRCV001003051RCV001255142RCV001498042

NM_001297.5(CNGB1):c.2629G>A (p.Gly877Arg) SNV
Germline
Chr16:57904739 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_200963831

3 SubmittersRCV001225374RCV001075433RCV001002973

NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys) SNV
Germline
Chr16:57912979 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
not specified
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_1286857064

4 SubmittersRCV001002974RCV001326652RCV003331019RCV004818138

NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys) SNV
Germline
Chr16:57915269 Pathogenic Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 45
Criteria Provided
Multiple Submitters
No Conflicts
rs_1028371920

6 SubmittersRCV001039446RCV001002975RCV002497323

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 SubmittersRCV001003132RCV003769394

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 SubmittersRCV001003198RCV002549203RCV003329357

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 SubmittersRCV001003204RCV001251549RCV002549204

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 SubmittersRCV001003205RCV001809894

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
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_890453675

6 SubmittersRCV001003000RCV004818140RCV002549197RCV001250622

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 SubmittersRCV001002943RCV001034731RCV001257879RCV001832323

NM_000283.4(PDE6B):c.1921-9C>G SNV
Germline
Chr4:663761 Pathogenic Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1577301137

3 SubmittersRCV001003116RCV001208611RCV004818141

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 SubmittersRCV001002897RCV002236069

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 SubmittersRCV001003199RCV002551700

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
Condition: not provided
Pigmentary pallidal degeneration
Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Criteria Provided
Conflicting Classifications
rs_559623184

7 SubmittersRCV001003627RCV001772184RCV001138967RCV002479198

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 SubmittersRCV001199585RCV001376437RCV003455052

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 SubmittersRCV001199787RCV001381927RCV003455058

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 SubmittersRCV001199576RCV003317411

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 SubmittersRCV001199583RCV003467566

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
Retinal dystrophy
Criteria Provided
Single Submitter
rs_1386612395

2 SubmittersRCV001199572RCV004818159

NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu) SNV
Germline
Chr1:215741426 Pathogenic Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Single Submitter
rs_1660298900

2 SubmittersRCV004818158RCV001199571

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
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_1259758261

3 SubmittersRCV001199568RCV001862731RCV003455050

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 SubmittersRCV001064231RCV001199580RCV003446587

NM_206933.4(USH2A):c.3812-2A>G SNV
Germline
Chr1:216198586 Pathogenic/Likely pathogenic Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_758733024

5 SubmittersRCV003446588RCV001092378RCV001199581

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 SubmittersRCV001199795RCV002549233

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 SubmittersRCV001199790RCV003558634

NM_000329.3(RPE65):c.1451G>T (p.Gly484Val) SNV
Germline
Chr1:68429927 Pathogenic Leber congenital amaurosis
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Reviewed By Expert Panel
rs_62653015

3 SubmittersRCV001199757RCV004527406RCV003769401

NM_000350.3(ABCA4):c.4848+2T>A SNV
Germline
Chr1:94021638 Pathogenic Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1659900155

3 SubmittersRCV001091943RCV001199630RCV004818164

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 not specified
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_150587104

4 SubmittersRCV001805969RCV002549229RCV001141153

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 SubmittersRCV001199779RCV001860549

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 SubmittersRCV001199784RCV001860550

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 SubmittersRCV001199782RCV002549232

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 SubmittersRCV001199486RCV001074072

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 SubmittersRCV001073659RCV001199741RCV001724208

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 SubmittersRCV001199440RCV002549226RCV004577952

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 SubmittersRCV001199459RCV002551708

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 SubmittersRCV001199458RCV001376522RCV002551707

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 SubmittersRCV001199501RCV001293400

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 SubmittersRCV001199508RCV001293401

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 SubmittersRCV001199502RCV001293403

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 SubmittersRCV001199504RCV001322860RCV002549228

NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly) SNV
Germline
Chr4:663852 Pathogenic/Likely pathogenic Retinitis pigmentosa 40
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1737442897

2 SubmittersRCV001293404RCV001199505RCV004818147

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 SubmittersRCV001199562RCV001860544

NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) SNV
Germline
Chr6:42704540 Pathogenic/Likely pathogenic Condition: not provided
Patterned dystrophy of the retinal pigment epithelium
Retinal dystrophy
Retinitis pigmentosa
PRPH2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_986748364

7 SubmittersRCV001093085RCV001250377RCV001073873RCV001199523RCV001202274

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 SubmittersRCV001199689RCV001229450RCV001832325RCV003317412

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 SubmittersRCV001199686RCV001268164

NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter) SNV
Germline
Chr6:64590454 Pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_1766367970

3 SubmittersRCV002275181RCV004818165RCV001199684

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

9 SubmittersRCV001199810RCV001832326RCV001862733RCV003890163

NM_001142800.2(EYS):c.749-1G>C SNV
Germline
Chr6:65490708 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Criteria Provided
Multiple Submitters
No Conflicts
rs_368159852

6 SubmittersRCV001074982RCV001035502RCV001199690RCV002505535

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 SubmittersRCV001199478RCV001306605

NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro) SNV
Germline
Chr7:128409831 Conflicting classifications of pathogenicity Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_946898300

3 SubmittersRCV001158325RCV001158326RCV001305635

NM_006269.2(RP1):c.615+1G>A SNV
Germline
Chr8:54621582 Pathogenic Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_886210482

2 SubmittersRCV001199751RCV004794472

NM_006269.2(RP1):c.2113A>T (p.Lys705Ter) SNV
Germline
Chr8:54625995 Pathogenic Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1806033844

2 SubmittersRCV001199747RCV004818168

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 SubmittersRCV001199600RCV001860546

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 SubmittersRCV001199431RCV002481807

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 SubmittersRCV001199654RCV002275200

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

5 SubmittersRCV001074576RCV001092316RCV001199559

NM_014249.4(NR2E3):c.406G>T (p.Glu136Ter) SNV
Germline
Chr15:71812011 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_1257334132

4 SubmittersRCV001073492RCV001091351RCV001199716

NM_014249.4(NR2E3):c.563C>G (p.Pro188Arg) SNV
Germline
Chr15:71812168 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_2054189787

2 SubmittersRCV001199487RCV004818146

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 SubmittersRCV001091352RCV001199488

NM_006445.4(PRPF8):c.6377G>A (p.Gly2126Glu) SNV
Germline
Chr17:1651781 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1360391558

2 SubmittersRCV001199516RCV001071854

NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys) SNV
Germline
Chr17:1655534 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_1911322255

3 SubmittersRCV001199515RCV004818151

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
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1314226094

3 SubmittersRCV001199514RCV004818150RCV002279705

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 Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_2067127275

4 SubmittersRCV004818154RCV001090910RCV001199551

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 Retinitis pigmentosa
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_2067193671

2 SubmittersRCV001199533RCV001091407

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 SubmittersRCV001092671RCV001199765

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 Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_2067985165

3 SubmittersRCV004818172RCV001199766RCV002275202

NM_001034853.2(RPGR):c.29-1G>T SNV
Germline
ChrX:38323525 Pathogenic/Likely pathogenic Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_2067987832

5 SubmittersRCV001074324RCV001199767RCV001092674

NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) SNV
Germline
Chr1:215728342 Pathogenic Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_1358947010

7 SubmittersRCV001004144RCV001383730RCV002489513RCV003455060RCV004800657

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
Bardet-Biedl syndrome 2
Condition: not provided
BBS2-related disorder
Criteria Provided
Conflicting Classifications
rs_778543585

5 SubmittersRCV001005003RCV001061887RCV001832327RCV004721700RCV004733109

NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter) SNV
Germline
Chr2:27461346 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Short-rib thoracic dysplasia 10 with or without polydactyly
Criteria Provided
Multiple Submitters
No Conflicts
rs_202024173

4 SubmittersRCV001008014RCV001213870RCV003458171

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 SubmittersRCV001027886RCV003727839

NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) SNV
Germline
Chr6:35506101 Pathogenic Retinitis pigmentosa 14
Leber congenital amaurosis
Condition: not provided
Abnormality of the eye
Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis 15
Criteria Provided
Multiple Submitters
No Conflicts
rs_201070350

8 SubmittersRCV001028029RCV001251337RCV001054314RCV001814258RCV001257786RCV001255925

NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) SNV
Germline
Chr1:68440879 Likely pathogenic Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
rs_768445391

4 SubmittersRCV001029769RCV001073324RCV001208105RCV001836068

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 SubmittersRCV001029856RCV002552433

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 SubmittersRCV001029758RCV001318325RCV001844262

NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu) SNV
Germline
Chr1:216289353 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa
Hearing impairment
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_373190681

5 SubmittersRCV001100845RCV004818185RCV001100844RCV001375204RCV001034143

NM_206933.4(USH2A):c.1439T>C (p.Val480Ala) SNV
Germline
Chr1:216323585 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_200981928

10 SubmittersRCV001097358RCV004818187RCV001097359RCV001593193RCV004783880RCV001034413RCV002552058

NM_001029883.3(PCARE):c.103G>A (p.Gly35Arg) SNV
Germline
Chr2:29074159 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_187178339

3 SubmittersRCV001143463RCV001034442RCV004030929

NM_001297.5(CNGB1):c.1024A>G (p.Lys342Glu) SNV
Germline
Chr16:57950391 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_201203400

4 SubmittersRCV001033963RCV001074214RCV001118431RCV002552046

NM_201253.3(CRB1):c.490C>T (p.Gln164Ter) SNV
Germline
Chr1:197328841 Pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
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 Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
rs_1660516364

2 SubmittersRCV003473646RCV001052034

NM_201253.3(CRB1):c.2054G>T (p.Gly685Val) SNV
Germline
Chr1:197421882 Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Single Submitter
rs_748175297

1 SubmittersRCV001044718

NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro) SNV
Germline
Chr1:197427625 Conflicting classifications of pathogenicity Retinal dystrophy
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Condition: not provided
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
rs_1451348539

6 SubmittersRCV001074779RCV001827256RCV001042149RCV003455171RCV003455172RCV004768801RCV003455170

NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg) SNV
Germline
Chr1:197427895 Conflicting classifications of pathogenicity Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
not specified
Criteria Provided
Conflicting Classifications
rs_1664678030

3 SubmittersRCV001038213RCV001376351RCV004587017

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 SubmittersRCV001049924RCV001073588RCV001250611RCV001832464RCV003455213RCV003455212

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/Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_768713412

3 SubmittersRCV001049160RCV003473638RCV004813609

NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter) SNV
Germline
Chr1:197442283 Pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1665487563

3 SubmittersRCV001044149RCV003455181RCV003455182RCV001531025

NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln) SNV
Germline
Chr1:197477865 Pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_1667269806

2 SubmittersRCV001065861RCV003473688

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 SubmittersRCV001055885RCV001075003RCV003455253

NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys) SNV
Germline
Chr1:215674428 Conflicting classifications of pathogenicity Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Conflicting Classifications
rs_746221227

3 SubmittersRCV001047311RCV001827299RCV002497387

NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) SNV
Germline
Chr1:215674778 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinal dystrophy
Inborn genetic diseases
Condition: not provided
USH2A-related disorder
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
rs_570277510

7 SubmittersRCV001272944RCV001073415RCV003160314RCV001043922RCV004733115RCV001805991

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 SubmittersRCV001049950RCV003462545RCV003396663

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 SubmittersRCV001066287RCV003473689

NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile) SNV
Germline
Chr1:215759757 Conflicting classifications of pathogenicity Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_201951918

5 SubmittersRCV001057430RCV001271139RCV002482019RCV003455257RCV003890203

NM_206933.4(USH2A):c.10820A>C (p.His3607Pro) SNV
Germline
Chr1:215779962 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_750321557

5 SubmittersRCV001060442RCV003467808RCV003455273RCV004782633

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 SubmittersRCV001061745RCV003473680

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
Retinitis pigmentosa 39
USH2A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_1424639717

5 SubmittersRCV001052468RCV001075376RCV003455228RCV003455229RCV004528359

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 SubmittersRCV001036117RCV004570095

NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter) SNV
Germline
Chr1:215998928 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_769609970

3 SubmittersRCV001051415RCV003455223RCV001073838

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 SubmittersRCV001069986RCV003469261

NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) SNV
Germline
Chr1:216097109 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_201529124

9 SubmittersRCV004813699RCV001067861RCV003455294RCV001376322RCV002282450

NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter) SNV
Germline
Chr1:216250924 Pathogenic Condition: not provided
Usher syndrome type 2
Retinitis pigmentosa 39
USH2A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_1364987785

4 SubmittersRCV001058203RCV002307669RCV003473664RCV004726845

NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly) SNV
Germline
Chr1:68431070 Conflicting classifications of pathogenicity Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_749242996

2 SubmittersRCV001054425RCV001559438

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 SubmittersRCV001054822RCV001250697RCV001827346RCV004527410

NM_000329.3(RPE65):c.507C>A (p.Cys169Ter) SNV
Germline
Chr1:68440989 Pathogenic Leber congenital amaurosis 2
Retinitis pigmentosa 20
Criteria Provided
Single Submitter
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
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Criteria Provided
Conflicting Classifications
rs_1188515677

3 SubmittersRCV001040976RCV001270350RCV002479263

NM_006343.3(MERTK):c.98C>T (p.Pro33Leu) SNV
Germline
Chr2:111929156 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Optic atrophy
Criteria Provided
Conflicting Classifications
rs_144751432

3 SubmittersRCV001059261RCV001136136RCV004813657

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 SubmittersRCV001053636RCV001249884

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 SubmittersRCV001055389RCV001131965

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 SubmittersRCV001066599RCV001073675RCV001376310RCV003226432

NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp) SNV
Germline
Chr2:181544750 Conflicting classifications of pathogenicity Retinal dystrophy
Retinitis pigmentosa 26
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_139300604

5 SubmittersRCV001075763RCV001836101RCV001060318

NM_201548.5(CERKL):c.98T>G (p.Leu33Ter) SNV
Germline
Chr2:181656909 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_769632183

3 SubmittersRCV001074956RCV001041839RCV002239323

NM_144631.6(ZNF513):c.395G>C (p.Cys132Ser) SNV
Germline
Chr2:27378871 Conflicting classifications of pathogenicity Condition: not provided
not specified
Retinal dystrophy
Optic atrophy
Retinitis pigmentosa
ZNF513-related disorder
Criteria Provided
Conflicting Classifications
rs_184500376

6 SubmittersRCV001054262RCV004031707RCV004813631RCV004813632RCV001140879RCV003906159

NM_015662.3(IFT172):c.4960A>G (p.Met1654Val) SNV
Germline
Chr2:27445404 Conflicting classifications of pathogenicity Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Criteria Provided
Conflicting Classifications
rs_529850410

3 SubmittersRCV002479285RCV004553583RCV001046318

NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln) SNV
Germline
Chr2:27454019 Conflicting classifications of pathogenicity Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
Retinitis pigmentosa 71
Asphyxiating thoracic dystrophy 1
Inborn genetic diseases
IFT172-related disorder
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
not specified
Criteria Provided
Conflicting Classifications
rs_141440865

7 SubmittersRCV001038571RCV001585938RCV003483758RCV004031075RCV004553570RCV002489555RCV001819745

NM_015662.3(IFT172):c.3268G>A (p.Val1090Met) SNV
Germline
Chr2:27456614 Conflicting classifications of pathogenicity Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinal dystrophy
IFT172-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_76076247

5 SubmittersRCV001057892RCV002505617RCV003890205RCV004547963RCV004031826

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 SubmittersRCV001055460RCV002482000RCV002554386

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
Condition: not provided
not specified
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Inborn genetic diseases
IFT172-related disorder
Criteria Provided
Conflicting Classifications
rs_367930028

7 SubmittersRCV001054271RCV002291713RCV003151274RCV002468131RCV002553339RCV004553596

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 SubmittersRCV001041302RCV001074821RCV001542737

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 SubmittersRCV001043324RCV002225125

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 SubmittersRCV001059253RCV001074612RCV002482039

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 SubmittersRCV001060017RCV003467805

NM_001201543.2(FAM161A):c.379C>T (p.Gln127Ter) SNV
Germline
Chr2:61842165 Pathogenic/Likely pathogenic Retinitis pigmentosa 28
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1673040470

2 SubmittersRCV003462612RCV001069567

NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr) SNV
Germline
Chr2:96291454 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 33
Criteria Provided
Multiple Submitters
No Conflicts
rs_2063883437

4 SubmittersRCV003890226RCV001069774RCV003127619

NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys) SNV
Germline
Chr2:96295538 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 33
Criteria Provided
Conflicting Classifications
rs_367922991

4 SubmittersRCV001074176RCV001041315RCV004789377

NM_014014.5(SNRNP200):c.1634G>A (p.Arg545His) SNV
Germline
Chr2:96296573 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 33
SNRNP200-related disorder
Criteria Provided
Conflicting Classifications
rs_2063918355

3 SubmittersRCV001041316RCV001352976RCV004757364

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 SubmittersRCV001058052RCV001136810

NM_000539.3(RHO):c.310G>A (p.Val104Ile) SNV
Germline
Chr3:129529043 Conflicting classifications of pathogenicity Condition: not provided
RHO-related disorder
Congenital stationary night blindness autosomal dominant 1
Pigmentary retinal dystrophy
Retinitis pigmentosa 4
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_144317206

4 SubmittersRCV001067390RCV004756165RCV002482112RCV003890221

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 SubmittersRCV001069818RCV001265189RCV001073649

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 SubmittersRCV001061969RCV001265190

NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu) SNV
Germline
Chr3:170481114 Conflicting classifications of pathogenicity Condition: not provided
not specified
Retinitis pigmentosa 68
Retinal dystrophy
Optic atrophy
Criteria Provided
Conflicting Classifications
rs_142416793

7 SubmittersRCV001050504RCV002307665RCV002481959RCV004813617RCV004813618

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
Neurodevelopmental disorder
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Criteria Provided
Multiple Submitters
No Conflicts
rs_760676442

5 SubmittersRCV001041856RCV001280749RCV002276597RCV002489573

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 SubmittersRCV001044541RCV001145008RCV001151119RCV001151120RCV001151121

NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys) SNV
Germline
Chr4:625846 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
PDE6B-related disorder
Criteria Provided
Conflicting Classifications
rs_144590560

3 SubmittersRCV001040277RCV001156702RCV001156703RCV004740547

NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter) SNV
Germline
Chr4:653950 Pathogenic Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa
Condition: not provided
See cases
Criteria Provided
Multiple Submitters
No Conflicts
rs_145605739

6 SubmittersRCV001075156RCV001257887RCV001724224RCV001061541RCV004584422

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 SubmittersRCV001053317RCV001074240RCV002479325

NM_000283.4(PDE6B):c.1703C>T (p.Thr568Met) SNV
Germline
Chr4:662222 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_369980987

3 SubmittersRCV001155046RCV001155047RCV001046319RCV004031433

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 SubmittersRCV001054297RCV001151261RCV001151262

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 SubmittersRCV001040968RCV001724216

NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro) SNV
Germline
Chr6:42704534 Pathogenic/Likely pathogenic Retinitis pigmentosa
Retinal dystrophy
PRPH2-related disorder
Patterned dystrophy of the retinal pigment epithelium
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_61755810

4 SubmittersRCV001250311RCV004813695RCV001067304RCV001250312RCV001530244

NM_000322.5(PRPH2):c.454A>G (p.Met152Val) SNV
Germline
Chr6:42721881 Conflicting classifications of pathogenicity Condition: not provided
PRPH2-related disorder
Adult-onset foveomacular vitelliform dystrophy
Cone-rod dystrophy
Retinitis pigmentosa
Pigmentary retinal dystrophy
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_146703538

5 SubmittersRCV001530339RCV001050346RCV001161385RCV001162923RCV001161384RCV001161386RCV001162922RCV001162924RCV003890189

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

5 SubmittersRCV001057746RCV002249665RCV003890204

NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu) SNV
Germline
Chr6:63721197 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 25
not specified
Criteria Provided
Conflicting Classifications
rs_1161453292

7 SubmittersRCV001073472RCV001037096RCV001827220RCV002271614

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 SubmittersRCV001062754RCV002249666

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 SubmittersRCV001061363RCV001832549RCV003160492

NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter) SNV
Germline
Chr6:63726609 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25
Criteria Provided
Multiple Submitters
No Conflicts
rs_1299355731

3 SubmittersRCV001037794RCV003890167RCV003461437

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 SubmittersRCV001057875RCV001073953RCV001260371RCV001784611

NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser) SNV
Germline
Chr6:64591474 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_747921119

4 SubmittersRCV001045506RCV001274978RCV001161167RCV003890182

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 SubmittersRCV001058074RCV001074465RCV004570230

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 SubmittersRCV001050905RCV001164781RCV003890190

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 SubmittersRCV001038505RCV003467718

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 SubmittersRCV001047737RCV001073224RCV001827300

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 SubmittersRCV001045154RCV001274888RCV003462531

NM_001142800.2(EYS):c.2259C>T (p.Leu753=) SNV
Germline
Chr6:64997582 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25
Criteria Provided
Conflicting Classifications
rs_781359405

5 SubmittersRCV001047061RCV003890183RCV001827294

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 SubmittersRCV001038072RCV001376342

NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr) SNV
Germline
Chr6:65353568 Conflicting classifications of pathogenicity Retinitis pigmentosa 25
Condition: not provided
Retinitis pigmentosa
not specified
Criteria Provided
Conflicting Classifications
rs_138255012

5 SubmittersRCV001809970RCV001059689RCV001276909RCV003987773

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 SubmittersRCV001064687RCV003389484

NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu) SNV
Germline
Chr8:43178109 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
HGSNAT-related disorder
Retinal dystrophy
not specified
Criteria Provided
Conflicting Classifications
rs_372933126

8 SubmittersRCV001042356RCV001250771RCV001275630RCV003963005RCV004813581RCV004768802

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 Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
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 SubmittersRCV001052955RCV002497411

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 SubmittersRCV001043934RCV001352959

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

4 SubmittersRCV001053275RCV002479324RCV004031679

NM_014249.4(NR2E3):c.123G>A (p.Val41=) SNV
Germline
Chr15:71811487 Conflicting classifications of pathogenicity Condition: not provided
Enhanced S-cone syndrome
Retinitis pigmentosa
Goldmann-Favre syndrome
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_555860015

4 SubmittersRCV001049667RCV001118170RCV001118171RCV001280213RCV003890186

NM_014249.4(NR2E3):c.767C>T (p.Ala256Val) SNV
Germline
Chr15:71813408 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 37
Enhanced S-cone syndrome
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_377257254

5 SubmittersRCV001046776RCV001119921RCV001118395RCV004813600

NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile) SNV
Germline
Chr16:1511030 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_145746065

4 SubmittersRCV001060475RCV002489663RCV003160485RCV004813662

NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr) SNV
Germline
Chr16:1511128 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_202129528

4 SubmittersRCV001036582RCV002489544RCV002552463RCV003883532

NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu) SNV
Germline
Chr16:1518239 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
IFT140-related disorder
Criteria Provided
Conflicting Classifications
rs_142668269

4 SubmittersRCV001064370RCV002489684RCV003243459RCV004753196

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 SubmittersRCV001046762RCV002479288

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 SubmittersRCV001053133RCV002553308RCV002481974

NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn) SNV
Germline
Chr16:1525909 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_568921640

3 SubmittersRCV001064320RCV002489683RCV002553955

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 SubmittersRCV001053823RCV002553329RCV002481981

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 SubmittersRCV001057154RCV002489647RCV002553366

NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr) SNV
Germline
Chr16:1583329 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Condition: not provided
IFT140-related disorder
Criteria Provided
Conflicting Classifications
rs_149642543

5 SubmittersRCV001049333RCV002479303RCV002553199RCV004693513RCV004753179

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 SubmittersRCV001045656RCV001118215RCV001353011

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 SubmittersRCV001056558RCV001376211RCV003324552

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 SubmittersRCV001058097RCV001119867

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 SubmittersRCV001054784RCV001118430RCV004031729

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 SubmittersRCV001063597RCV001118432

NM_199355.4(ADAMTS18):c.2752A>G (p.Lys918Glu) SNV
Germline
Chr16:77297338 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Inborn genetic diseases
Microcornea-myopic chorioretinal atrophy
Criteria Provided
Conflicting Classifications
rs_138435590

5 SubmittersRCV001043787RCV004813584RCV001593211RCV002552537RCV003141961

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

3 SubmittersRCV001066628RCV001376497

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

4 SubmittersRCV001055759RCV001277029RCV002249663

NM_201253.3(CRB1):c.70+2T>A SNV
Germline
Chr1:197268484 Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Single Submitter
rs_1654723466

1 SubmittersRCV001045412

NM_201253.3(CRB1):c.4006-10A>G SNV
Germline
Chr1:197477654 Conflicting classifications of pathogenicity Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
rs_766850702

8 SubmittersRCV001074118RCV003473660RCV001056224RCV001197156RCV001376226

NM_000539.3(RHO):c.936+1G>T SNV
Germline
Chr3:129532773 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 4
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_776014770

5 SubmittersRCV001060212RCV001265165RCV001724222

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

5 SubmittersRCV001059361RCV001724220RCV001376419

NM_000440.3(PDE6A):c.998+1G>A SNV
Germline
Chr5:149914942 Pathogenic Retinitis pigmentosa 43
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_748946491

5 SubmittersRCV003225740RCV004813663RCV001060604RCV001724223

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 SubmittersRCV001048038RCV001276140RCV001075770RCV003446597

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 SubmittersRCV001043784RCV001155157RCV001155158

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 SubmittersRCV001044250RCV001073831RCV001827270

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 SubmittersRCV001038182RCV001075328RCV003461438

NM_014285.7(EXOSC2):c.801+1G>A SNV
Germline
Chr9:130703182 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Criteria Provided
Conflicting Classifications
rs_780641666

2 SubmittersRCV001038554RCV004761891

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 SubmittersRCV001044110RCV002489581

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 SubmittersRCV001074004RCV001353026RCV001862532

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 SubmittersRCV001074490RCV002069579

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 SubmittersRCV001075076RCV002554741RCV003455393RCV003455395RCV003455394

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 SubmittersRCV001073402RCV002554660RCV003455314RCV003455315RCV003455313

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 SubmittersRCV001075147RCV001205896RCV001257860RCV001724243RCV003455399RCV003455400RCV003455401

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 SubmittersRCV001075152RCV002557921RCV003455402RCV003455404RCV003455403

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
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_1664671663

3 SubmittersRCV001074122RCV002554698RCV003455343RCV003455345RCV003455344

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 SubmittersRCV001074865RCV001862578RCV003455381RCV003455382RCV003455380

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 SubmittersRCV001075199RCV001862600RCV003455406RCV003455407RCV003455405

NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys) SNV
Germline
Chr1:197442278 Pathogenic Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_760544654

6 SubmittersRCV001073526RCV001378742RCV003455324RCV003455325RCV003455326RCV001092289RCV001696228

NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) SNV
Germline
Chr1:215648741 Conflicting classifications of pathogenicity Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
rs_149807281

7 SubmittersRCV001073804RCV001376409RCV001245666RCV001828535RCV002557899RCV004587040

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 SubmittersRCV001073309RCV001862801RCV003455311RCV003455312

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 SubmittersRCV001073536RCV001245216RCV003455327

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 SubmittersRCV001073233RCV001245929RCV001828533RCV002480448

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 SubmittersRCV001074890RCV001211797RCV003455387

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 SubmittersRCV001074265RCV001376388RCV003455351

NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter) SNV
Germline
Chr1:215766730 Pathogenic/Likely pathogenic Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1661140054

3 SubmittersRCV001075028RCV003455390RCV002554736

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 SubmittersRCV001073693RCV001862515RCV003455330

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 SubmittersRCV001073240RCV001226170RCV001833681RCV003455307

NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter) SNV
Germline
Chr1:215813784 Pathogenic/Likely pathogenic Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1662771528

3 SubmittersRCV001074877RCV003455386RCV002557918

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
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
rs_747652397

5 SubmittersRCV001074681RCV002489722RCV003455372RCV001862836RCV003455373

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 SubmittersRCV001074741RCV001204740RCV003455374

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 SubmittersRCV001075753RCV002555918RCV003455422

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 SubmittersRCV001075822RCV001381658RCV002250723RCV003455425

NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro) SNV
Germline
Chr1:216196671 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_2034852728

7 SubmittersRCV001074304RCV001243846RCV002471033RCV004570315RCV003323795

NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter) SNV
Germline
Chr1:216247207 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_757154662

6 SubmittersRCV001074494RCV001385356RCV001809978RCV003455368

NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe) SNV
Germline
Chr1:216250983 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
not specified
Usher syndrome type 2A
Criteria Provided
Conflicting Classifications
rs_1352007983

4 SubmittersRCV001073592RCV001862507RCV003455329RCV004689987RCV003455328

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 SubmittersRCV001075640RCV002554764RCV003455415

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 SubmittersRCV001073478RCV002554665RCV003455321

NM_000329.3(RPE65):c.1040G>A (p.Arg347His) SNV
Germline
Chr1:68438275 Likely pathogenic Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_562037932

4 SubmittersRCV001073373RCV002554658RCV003469271RCV004801928

NM_000329.3(RPE65):c.302C>T (p.Thr101Ile) SNV
Germline
Chr1:68444827 Likely pathogenic Retinal dystrophy
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_1444234037

4 SubmittersRCV001073555RCV001089888RCV002554669RCV004801929

NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val) SNV
Germline
Chr1:94001949 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_1362964563

4 SubmittersRCV001073480RCV003558652RCV004587039

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 SubmittersRCV001074862RCV001233966RCV001833689

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 SubmittersRCV001073779RCV001207420

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 SubmittersRCV001074763RCV001257876RCV001387747

NM_014014.5(SNRNP200):c.3688A>G (p.Ser1230Gly) SNV
Germline
Chr2:96286829 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 33
Criteria Provided
Conflicting Classifications
rs_372772120

3 SubmittersRCV001074855RCV001301809RCV004771491

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 SubmittersRCV001074203RCV001376407

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 SubmittersRCV001074321RCV001376406RCV001862553

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 SubmittersRCV001073984RCV001265179RCV001862531

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 SubmittersRCV001075603RCV001265180RCV001389459RCV001542565RCV003324555

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

6 SubmittersRCV001074404RCV001090663RCV001265188RCV001724238

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 SubmittersRCV001075883RCV001265191RCV001321723

NM_000539.3(RHO):c.551A>G (p.Gln184Arg) SNV
Germline
Chr3:129532271 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa 4
Pigmentary retinal dystrophy
Retinitis pigmentosa 4
Criteria Provided
Multiple Submitters
No Conflicts
rs_1402468701

6 SubmittersRCV001075493RCV001337215RCV001535689RCV002249673RCV003447316

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 SubmittersRCV001074608RCV001265197RCV001862569

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

7 SubmittersRCV001073436RCV001090666RCV001265200RCV001542566

NM_000539.3(RHO):c.1028G>A (p.Ser343Asn) SNV
Germline
Chr3:129533699 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 4
Criteria Provided
Conflicting Classifications
rs_2084801470

5 SubmittersRCV001075811RCV001090668RCV001265169

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
Stargardt disease 4
Retinitis pigmentosa 41
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Criteria Provided
Conflicting Classifications
rs_1033920857

4 SubmittersRCV001073905RCV001376252RCV001862810RCV002489720

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 SubmittersRCV001073893RCV001374882RCV001862522

NM_000283.4(PDE6B):c.1935C>A (p.Tyr645Ter) SNV
Germline
Chr4:663784 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 40
Criteria Provided
Multiple Submitters
No Conflicts
rs_1737429976

3 SubmittersRCV001074559RCV002554727RCV004819236

NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) SNV
Germline
Chr4:663803 Pathogenic Retinal dystrophy
Retinitis pigmentosa 40
Retinitis pigmentosa
Condition: not provided
Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa 40
Criteria Provided
Multiple Submitters
No Conflicts
rs_373037737

6 SubmittersRCV001074165RCV001376495RCV001724236RCV001382538RCV002497489

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 SubmittersRCV001073639RCV001381541RCV001784630

NM_000440.3(PDE6A):c.1689C>A (p.His563Gln) SNV
Germline
Chr5:149895222 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 43
Criteria Provided
Conflicting Classifications
rs_776918069

4 SubmittersRCV001074263RCV001226626RCV002489721

NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu) SNV
Germline
Chr6:63720900 Likely pathogenic Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 25
Criteria Provided
Multiple Submitters
No Conflicts
rs_772549804

3 SubmittersRCV001073340RCV003155355RCV003462627

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

8 SubmittersRCV001075653RCV001305529RCV001833695RCV003317429

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 SubmittersRCV001075654RCV001382260RCV003462634

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 SubmittersRCV001073826RCV001229658RCV001833684RCV004031178

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 SubmittersRCV001074342RCV001387925RCV003462630

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 SubmittersRCV001074692RCV001862573RCV002480451

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 SubmittersRCV001073570RCV001862505RCV003462628

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 SubmittersRCV001073663RCV002489719

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 SubmittersRCV001073256RCV001090299RCV001593252RCV003405291

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
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
not specified
Criteria Provided
Conflicting Classifications
rs_763301637

6 SubmittersRCV001074429RCV001251049RCV001552003RCV002554715RCV003155356

NM_014249.4(NR2E3):c.290G>A (p.Arg97His) SNV
Germline
Chr15:71811810 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Enhanced S-cone syndrome
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_1489149705

6 SubmittersRCV001075623RCV001202142RCV001836119RCV004768857

NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter) SNV
Germline
Chr15:71811829 Pathogenic/Likely pathogenic Retinal dystrophy
Enhanced S-cone syndrome
Retinitis pigmentosa 37
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_955766374

8 SubmittersRCV001075821RCV001833696RCV001593257RCV001390830

NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr) SNV
Germline
Chr16:1524864 Conflicting classifications of pathogenicity Retinal dystrophy
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
rs_369493147

3 SubmittersRCV001075464RCV001371865RCV002505666

NM_014714.4(IFT140):c.1984G>A (p.Val662Ile) SNV
Germline
Chr16:1564080 Conflicting classifications of pathogenicity Retinal dystrophy
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
rs_199758112

3 SubmittersRCV001074636RCV001862835RCV002480450

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 SubmittersRCV001075066RCV001384577RCV001784637RCV003987779

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

6 SubmittersRCV001073622RCV001381238RCV001724229RCV002497486RCV003906174

NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter) SNV
Germline
Chr19:54128175 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 11
Criteria Provided
Multiple Submitters
No Conflicts
rs_1342475527

4 SubmittersRCV001074012RCV001092517RCV004796363

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 SubmittersRCV001074990RCV001251570RCV003650599

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 SubmittersRCV000010591RCV001073899RCV001251534RCV002554689

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 SubmittersRCV001074199RCV001251621RCV002464375RCV002554703

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 SubmittersRCV001073958RCV001251620RCV002554691

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 SubmittersRCV001075387RCV001251606RCV003650600

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 SubmittersRCV001075737RCV001251602RCV002555916

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 SubmittersRCV001074219RCV001251596RCV003537469

NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter) SNV
Germline
ChrX:38286739 Pathogenic Retinal dystrophy
Retinitis pigmentosa 3
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
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_2067187550

4 SubmittersRCV001075181RCV001251588RCV002482156RCV002464379

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 SubmittersRCV001073293RCV001251585

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 SubmittersRCV001075090RCV001251581

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 SubmittersRCV001075438RCV001251580RCV002464380RCV003537471

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 SubmittersRCV001073337RCV001251578

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

3 SubmittersRCV001073828RCV001251565RCV002554681

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 SubmittersRCV001074138RCV001251563RCV002554699

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

5 SubmittersRCV001376362RCV002557901RCV003890230

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 SubmittersRCV001075870RCV001862856RCV002298870

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 SubmittersRCV001074781RCV001593255RCV001862575RCV003446610RCV003446611

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 SubmittersRCV001074063RCV002557903RCV003446607RCV003448367

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 SubmittersRCV001075750RCV003446615RCV002555917

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 SubmittersRCV001074953RCV001862587RCV003446612

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 SubmittersRCV001075303RCV001386858RCV001828541RCV003446614

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 SubmittersRCV001075057RCV001862840RCV003446613

NM_000350.3(ABCA4):c.302+4A>C SNV
Germline
Chr1:94111434 Pathogenic/Likely pathogenic Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_1662599697

2 SubmittersRCV001075244RCV004689988

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 SubmittersRCV001073678RCV003473701RCV003669180

NM_016247.4(IMPG2):c.667-1G>A SNV
Germline
Chr3:101273743 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 56
Criteria Provided
Multiple Submitters
No Conflicts
rs_1334444660

4 SubmittersRCV001074627RCV001389859RCV004800690

NM_000283.4(PDE6B):c.992+1G>A SNV
Germline
Chr4:654889 Pathogenic/Likely pathogenic Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 40
Criteria Provided
Multiple Submitters
No Conflicts
rs_898144119

4 SubmittersRCV001075786RCV001257811RCV001862633RCV004761927

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 SubmittersRCV001075219RCV001376276RCV002554749

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 SubmittersRCV001073714RCV001238495RCV002497487

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 SubmittersRCV001073306RCV001268816RCV002505661

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

3 SubmittersRCV001073634RCV001702082

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 SubmittersRCV001073473RCV001376422RCV002554664

NM_152419.3(HGSNAT):c.118+5G>A SNV
Germline
Chr8:43140619 Conflicting classifications of pathogenicity Retinal dystrophy
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Criteria Provided
Conflicting Classifications
rs_1174944521

2 SubmittersRCV001073674RCV002557896

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

5 SubmittersRCV001073818RCV001237370RCV001376446

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 SubmittersRCV001074296RCV001376221RCV001862823

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 SubmittersRCV001073949RCV002497488

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 SubmittersRCV001075047RCV002471034RCV002554738

NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) SNV
Germline
Chr1:68431135 Pathogenic Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_1645823028

4 SubmittersRCV001089890RCV001201914RCV002511032RCV003769013

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 SubmittersRCV001089891RCV001102321RCV001862663RCV003769014

NM_000329.3(RPE65):c.484A>C (p.Thr162Pro) SNV
Germline
Chr1:68444542 Likely pathogenic Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_774309607

3 SubmittersRCV001089896RCV001206190RCV004801930

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
Retinal dystrophy
CRB1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_765676754

6 SubmittersRCV001092287RCV001380407RCV003455432RCV003455433RCV004813747RCV004740562

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

6 SubmittersRCV001092365RCV002249681RCV003890233RCV003469288

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 SubmittersRCV001092031RCV001257792RCV001784642

NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) SNV
Germline
Chr17:6428419 Pathogenic/Likely pathogenic Condition: not provided
Leber congenital amaurosis 4
Retinitis pigmentosa
Leber congenital amaurosis 4
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
rs_201883601

8 SubmittersRCV001090635RCV001172396RCV002489728RCV002222668

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 SubmittersRCV001095691RCV001231261RCV003455443RCV003455444

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 SubmittersRCV001100609RCV002554966

NM_004698.4(PRPF3):c.1042C>T (p.Leu348=) SNV
Germline
Chr1:150338166 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1489740997

2 SubmittersRCV001100884RCV003660843

NM_004698.4(PRPF3):c.1847A>T (p.Asp616Val) SNV
Germline
Chr1:150349160 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_587704985

2 SubmittersRCV001097138RCV002069637

NM_022367.4(SEMA4A):c.712C>T (p.Pro238Ser) SNV
Germline
Chr1:156160931 Conflicting classifications of pathogenicity Retinitis pigmentosa
Cone-rod dystrophy 10
Retinal dystrophy
not specified
Criteria Provided
Conflicting Classifications
rs_201715448

3 SubmittersRCV001099274RCV001099275RCV003890240RCV004857760

NM_022367.4(SEMA4A):c.994G>A (p.Gly332Arg) SNV
Germline
Chr1:156162954 Conflicting classifications of pathogenicity Retinitis pigmentosa
Cone-rod dystrophy 10
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_144475266

2 SubmittersRCV001101271RCV001101270RCV001222142

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 SubmittersRCV001097621RCV001097622RCV001343032RCV003890238

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 SubmittersRCV001099494RCV001099495

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 SubmittersRCV001101488RCV001101487

NM_201253.3(CRB1):c.265C>T (p.Pro89Ser) SNV
Germline
Chr1:197328616 Conflicting classifications of pathogenicity Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Inborn genetic diseases
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
rs_145525029

3 SubmittersRCV001100912RCV001100911RCV001100913RCV003160630RCV002554969

NM_201253.3(CRB1):c.867G>A (p.Thr289=) SNV
Germline
Chr1:197347358 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_147244321

4 SubmittersRCV001100737RCV001100736RCV001100738RCV001317879RCV001833700RCV003890246

NM_201253.3(CRB1):c.1878T>C (p.Ala626=) SNV
Germline
Chr1:197421706 Conflicting classifications of pathogenicity Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
rs_1413323140

2 SubmittersRCV001101090RCV001101091RCV001100836RCV001443187

NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) SNV
Germline
Chr1:197421884 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
rs_1204363918

7 SubmittersRCV001097349RCV001097350RCV001097351RCV001234545RCV001700696RCV001828549RCV003455452

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 SubmittersRCV001100306RCV001100307RCV001840783

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 SubmittersRCV001100415RCV001100416RCV001550447

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 SubmittersRCV001102382RCV001102383RCV001395518

NM_206933.4(USH2A):c.3660A>G (p.Val1220=) SNV
Germline
Chr1:216199778 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_2034940102

2 SubmittersRCV001098831RCV001098832RCV001421393

NM_206933.4(USH2A):c.1704C>T (p.Tyr568=) SNV
Germline
Chr1:216292311 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa
Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_766038321

3 SubmittersRCV001101107RCV001101106RCV001578843RCV002069695

NM_205861.3(DHDDS):c.855G>T (p.Gly285=) SNV
Germline
Chr1:26468984 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 59
Criteria Provided
Conflicting Classifications
rs_928446379

2 SubmittersRCV001099447RCV001426757

NM_000329.3(RPE65):c.807T>C (p.Ser269=) SNV
Germline
Chr1:68439242 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Criteria Provided
Conflicting Classifications
rs_774896870

2 SubmittersRCV001098757RCV001098758RCV001405985

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 SubmittersRCV001100590RCV001100591RCV003769066

NM_000329.3(RPE65):c.366C>T (p.Tyr122=) SNV
Germline
Chr1:68444660 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Criteria Provided
Conflicting Classifications
rs_1479443954

2 SubmittersRCV001097118RCV001097117RCV001444955

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 SubmittersRCV001101915RCV002069706

NM_206933.4(USH2A):c.1972-4C>T SNV
Germline
Chr1:216251102 Conflicting classifications of pathogenicity Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_772294505

2 SubmittersRCV001099031RCV001099032RCV001506006

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 SubmittersRCV001106852RCV001483780

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 SubmittersRCV001105650RCV002067783

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 SubmittersRCV001108853RCV001457795

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 SubmittersRCV001105542RCV002556077

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 SubmittersRCV001107995RCV001462767

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 SubmittersRCV001107996RCV001490153RCV003890252

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 SubmittersRCV001102768RCV001448160

NM_004183.4(BEST1):c.822C>T (p.Pro274=) SNV
Germline
Chr11:61958253 Conflicting classifications of pathogenicity Autosomal dominant vitreoretinochoroidopathy
Retinitis pigmentosa
Vitelliform macular dystrophy 2
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_759678509

2 SubmittersRCV001103401RCV001103400RCV001103399RCV001465607

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 SubmittersRCV001105322RCV001105320RCV001105321RCV001320312

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 SubmittersRCV001105503RCV001105504RCV001105505

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 SubmittersRCV001106826RCV001856431RCV003890250

NM_000327.4(ROM1):c.703G>A (p.Ala235Thr) SNV
Germline
Chr11:62614370 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_149255362

2 SubmittersRCV001204557RCV001107486

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 SubmittersRCV001102767RCV002067775

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 SubmittersRCV001105227RCV001105228RCV001105229RCV001513069

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 SubmittersRCV001112196RCV001493310

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 SubmittersRCV001115839RCV001115840

NM_018418.5(SPATA7):c.937G>A (p.Ala313Thr) SNV
Germline
Chr14:88429372 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 3
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_143812944

4 SubmittersRCV001120975RCV001119004RCV002558177RCV004693732

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 SubmittersRCV001119099RCV001119100RCV003890266

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 SubmittersRCV001116376RCV001116377

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 SubmittersRCV001116727RCV001116728RCV001446646

NM_014249.4(NR2E3):c.348C>T (p.Asp116=) SNV
Germline
Chr15:71811868 Conflicting classifications of pathogenicity Retinitis pigmentosa
Enhanced S-cone syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_374499278

3 SubmittersRCV001116838RCV001116839RCV001298491

NM_014249.4(NR2E3):c.925C>T (p.Arg309Trp) SNV
Germline
Chr15:71813566 Conflicting classifications of pathogenicity Retinitis pigmentosa 37
Condition: not provided
Enhanced S-cone syndrome
Criteria Provided
Conflicting Classifications
rs_774102273

3 SubmittersRCV001115329RCV001247193RCV001121911

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 SubmittersRCV001120115RCV001120116RCV001120117

NM_000326.5(RLBP1):c.924C>A (p.Pro308=) SNV
Germline
Chr15:89210315 Conflicting classifications of pathogenicity Retinitis pigmentosa
Pigmentary retinal dystrophy
Newfoundland cone-rod dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_144615495

2 SubmittersRCV001115518RCV001116936RCV001115517RCV001497408

NM_000326.5(RLBP1):c.105C>T (p.Gly35=) SNV
Germline
Chr15:89218601 Conflicting classifications of pathogenicity Pigmentary retinal dystrophy
Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_373881009

2 SubmittersRCV001117122RCV001117121RCV001117123RCV001514876

NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) SNV
Germline
Chr16:1510979 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
rs_142106374

4 SubmittersRCV001120218RCV001784659RCV002505695

NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) SNV
Germline
Chr16:1523883 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_201884886

5 SubmittersRCV001118773RCV002482220RCV003246700RCV003890263

NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) SNV
Germline
Chr16:1526010 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_200394007

4 SubmittersRCV001118859RCV002480491RCV003890264

NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr) SNV
Germline
Chr16:1584267 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_373106880

5 SubmittersRCV001118410RCV002497529RCV004629457RCV003890262

NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) SNV
Germline
Chr16:1584270 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
rs_764912104

3 SubmittersRCV001118411RCV002491368

NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) SNV
Germline
Chr16:1587985 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
rs_778404277

3 SubmittersRCV001121927RCV002497531

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 SubmittersRCV001115344RCV002482213

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 SubmittersRCV001119644RCV002556555

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 SubmittersRCV001121640RCV001399554

NM_001297.5(CNGB1):c.2475C>T (p.Tyr825=) SNV
Germline
Chr16:57911770 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
not specified
Criteria Provided
Conflicting Classifications
rs_200934249

5 SubmittersRCV001511497RCV001119761RCV001699509

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 SubmittersRCV001121742RCV001425062

NM_001297.5(CNGB1):c.1863G>A (p.Val621=) SNV
Germline
Chr16:57919193 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_753172645

2 SubmittersRCV001505644RCV001118325

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 SubmittersRCV001115274RCV001700974RCV001726432

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 SubmittersRCV001119954RCV001241706RCV003890269

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 SubmittersRCV001119956RCV002069949

NM_001297.5(CNGB1):c.376G>C (p.Ala126Pro) SNV
Germline
Chr16:57962979 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
CNGB1-related disorder
Criteria Provided
Conflicting Classifications
rs_200332871

3 SubmittersRCV001121945RCV001519030RCV003953499

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 SubmittersRCV001115369RCV001231157

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 SubmittersRCV001118517RCV001511921

NM_014249.4(NR2E3):c.349+15G>A SNV
Germline
Chr15:71811884 Conflicting classifications of pathogenicity Enhanced S-cone syndrome
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1157654626

2 SubmittersRCV001118294RCV001118293RCV003769162

NM_000326.5(RLBP1):c.525+14C>T SNV
Germline
Chr15:89215046 Conflicting classifications of pathogenicity Pigmentary retinal dystrophy
Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1173705310

2 SubmittersRCV001117037RCV001117038RCV001117039RCV003769155

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 SubmittersRCV001118102RCV002069907

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 SubmittersRCV001119645RCV002069943

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 SubmittersRCV001116874RCV002069888

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 SubmittersRCV001116876RCV001509719

NM_001297.5(CNGB1):c.1373-3C>A SNV
Germline
Chr16:57931881 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_564200357

2 SubmittersRCV001121844RCV001477946

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 SubmittersRCV001122661RCV001480043

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 SubmittersRCV001123761RCV002070020

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 SubmittersRCV001126416RCV002556749RCV003890273

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 SubmittersRCV001126417RCV001392244

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 SubmittersRCV001126419RCV001517292

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 SubmittersRCV001122772RCV001432156

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 SubmittersRCV001123861RCV002556682

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 SubmittersRCV001123864RCV001432648RCV003953501

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 SubmittersRCV001126504RCV001796370RCV001432777RCV003890274

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 SubmittersRCV001126505RCV001422691

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 SubmittersRCV001123944RCV002558223

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 SubmittersRCV001124294RCV001124293

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 SubmittersRCV001126961RCV001126960

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 SubmittersRCV001126962RCV001126963

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 SubmittersRCV001126187RCV003660851

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 SubmittersRCV001123210RCV002070014

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 SubmittersRCV001123211RCV002070015

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 SubmittersRCV001123212RCV001423208RCV001699510

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 SubmittersRCV001126418RCV002070068

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 SubmittersRCV001126507RCV002070069

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 SubmittersRCV001122872RCV001413121

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 SubmittersRCV001122875RCV002070010

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 SubmittersRCV001126622RCV001459557

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 SubmittersRCV001126185RCV001513351

NM_006343.3(MERTK):c.756A>C (p.Pro252=) SNV
Germline
Chr2:111947566 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
MERTK-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_3761702

4 SubmittersRCV001129154RCV001427984RCV003973094RCV003890278

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 SubmittersRCV001131962RCV002070541

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 SubmittersRCV001131968RCV001482387

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 SubmittersRCV001131570RCV001131571RCV001132600RCV002558276RCV003890279

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 SubmittersRCV001129005RCV001129007RCV001129006RCV002558263

NM_000554.6(CRX):c.765C>T (p.Gly255=) SNV
Germline
Chr19:47839832 Conflicting classifications of pathogenicity Cone-rod dystrophy 2
Retinitis pigmentosa
Leber congenital amaurosis 7
Leber congenital amaurosis 7
Cone-rod dystrophy 2
CRX-related disorder
Criteria Provided
Conflicting Classifications
rs_145913500

3 SubmittersRCV001131695RCV001131696RCV001131694RCV001213963RCV003945847

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 SubmittersRCV001132708RCV001132707RCV001132709

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 SubmittersRCV001129135RCV001129136RCV001129137

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 SubmittersRCV001132803RCV001132804RCV001136199

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 SubmittersRCV001132282RCV001132283RCV001133217

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 SubmittersRCV001129660RCV001129661RCV001129662

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 SubmittersRCV001129018RCV003769237

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 SubmittersRCV001129021RCV001425060RCV003890277

NM_015629.4(PRPF31):c.582G>A (p.Ala194=) SNV
Germline
Chr19:54123803 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
PRPF31-related disorder
Criteria Provided
Conflicting Classifications
rs_757374570

3 SubmittersRCV001131698RCV002070537RCV003928730

NM_015629.4(PRPF31):c.594C>T (p.Asn198=) SNV
Germline
Chr19:54123815 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
PRPF31-related disorder
Criteria Provided
Conflicting Classifications
rs_138269127

3 SubmittersRCV001131699RCV002070538RCV004757377

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 SubmittersRCV001131701RCV002070539

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 SubmittersRCV001136117RCV002556895RCV003890280

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 SubmittersRCV001135992RCV002556892

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 SubmittersRCV001135993RCV001509813

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 SubmittersRCV001135994RCV003769642

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 SubmittersRCV001129017RCV002070502

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 SubmittersRCV001138148RCV001466444RCV001833717

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

6 SubmittersRCV001141155RCV001522803RCV001828568

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 SubmittersRCV001138251RCV002070624

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 SubmittersRCV001139459RCV001139460

NM_000541.5(SAG):c.777C>T (p.Tyr259=) SNV
Germline
Chr2:233331683 Conflicting classifications of pathogenicity Oguchi disease
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_766104513

3 SubmittersRCV001142174RCV001142173RCV002559378RCV004960488

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 SubmittersRCV001142624RCV002032353

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 SubmittersRCV001137872RCV001516578

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 SubmittersRCV001137874RCV001856760

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 SubmittersRCV001137876RCV001477097

NM_144631.6(ZNF513):c.780G>A (p.Ala260=) SNV
Germline
Chr2:27378486 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_554115332

3 SubmittersRCV001140116RCV003890289RCV002070673

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 SubmittersRCV001140877RCV002070689

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 SubmittersRCV001140882RCV002070690RCV003890290

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 SubmittersRCV001141302RCV001205429RCV003890291

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 SubmittersRCV001136590RCV002070589RCV003890283

NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu) SNV
Germline
Chr2:29070858 Conflicting classifications of pathogenicity Retinitis pigmentosa
Inborn genetic diseases
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_756152942

4 SubmittersRCV001136594RCV004032305RCV001344515RCV003890284

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 SubmittersRCV001138825RCV001469494

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 SubmittersRCV001141418RCV001468701RCV003890292

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 SubmittersRCV001143261RCV002070723

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 SubmittersRCV001136692RCV001511143

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 SubmittersRCV001136694RCV001515253

NM_001029883.3(PCARE):c.1775C>T (p.Thr592Met) SNV
Germline
Chr2:29072487 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_202166083

3 SubmittersRCV001141533RCV003890293RCV002557008

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 SubmittersRCV001143364RCV001522206

NM_001201543.2(FAM161A):c.159A>G (p.Lys53=) SNV
Germline
Chr2:61853883 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_1184952883

2 SubmittersRCV001462328RCV001142843

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 SubmittersRCV001138855RCV002559339

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 SubmittersRCV001136708RCV001478181

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 SubmittersRCV001143387RCV002557053

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 SubmittersRCV001136812RCV001517897

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 SubmittersRCV001139055RCV001472850RCV003953513

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 SubmittersRCV001141015RCV001449437

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 SubmittersRCV001142120RCV001522808

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 SubmittersRCV001137385RCV002070606

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 SubmittersRCV001137499RCV002070610

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 SubmittersRCV001137501RCV001520924

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 SubmittersRCV001139714RCV003890288

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 SubmittersRCV001138151RCV001430838

NM_201548.5(CERKL):c.895+13C>T SNV
Germline
Chr2:181549621 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
CERKL-related disorder
Criteria Provided
Conflicting Classifications
rs_187829374

3 SubmittersRCV001141154RCV001460917RCV004756176

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 SubmittersRCV001140234RCV001140235RCV002070674

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 SubmittersRCV001140900RCV001858921

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 SubmittersRCV001142751RCV002070711

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 SubmittersRCV001143179RCV001428951RCV003906260

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 SubmittersRCV001136709RCV001513663

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 SubmittersRCV001136811RCV002070594

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 SubmittersRCV001138441RCV002070627

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 SubmittersRCV001142859RCV003769682

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 SubmittersRCV001142860RCV001512786

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 SubmittersRCV001137387RCV002070607

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 SubmittersRCV001137388RCV002556923

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 SubmittersRCV001139620RCV001395542

NM_012469.4(PRPF6):c.1305+11C>T SNV
Germline
Chr20:64010329 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_190123178

3 SubmittersRCV001140381RCV002070677RCV004813794

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 SubmittersRCV001140382RCV001516457

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 SubmittersRCV001142237RCV001521575

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 SubmittersRCV001142238RCV002070705

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 SubmittersRCV001139713RCV001422330

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 SubmittersRCV001147993RCV003433038

NM_016247.4(IMPG2):c.3288G>A (p.Val1096=) SNV
Germline
Chr3:101231091 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_190315698

3 SubmittersRCV001148100RCV003890305RCV001412403

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 SubmittersRCV001149656RCV001478186

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 SubmittersRCV001149658RCV001484938

NM_016247.4(IMPG2):c.1728C>G (p.Val576=) SNV
Germline
Chr3:101244603 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_556074974

2 SubmittersRCV001466236RCV001145349

NM_016247.4(IMPG2):c.1219G>T (p.Ala407Ser) SNV
Germline
Chr3:101253716 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_199986912

3 SubmittersRCV001148202RCV001858972RCV003890306

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 SubmittersRCV001148206RCV001479290

NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe) SNV
Germline
Chr3:101273664 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Vitelliform macular dystrophy 5
Retinitis pigmentosa 56
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_376443291

4 SubmittersRCV001218602RCV001149760RCV002491436RCV004813805

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 SubmittersRCV001145438RCV001434369

NM_000539.3(RHO):c.62G>A (p.Arg21His) SNV
Germline
Chr3:129528795 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Congenital stationary night blindness autosomal dominant 1
Criteria Provided
Conflicting Classifications
rs_552455660

2 SubmittersRCV001145548RCV001858954RCV001145549

NM_000539.3(RHO):c.399C>A (p.Ile133=) SNV
Germline
Chr3:129530913 Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_372812523

3 SubmittersRCV001148424RCV001148423RCV001535704RCV001324702

NM_000539.3(RHO):c.630C>T (p.Val210=) SNV
Germline
Chr3:129532350 Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 1
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_371192803

2 SubmittersRCV001143872RCV001150000RCV001423121

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 SubmittersRCV001145772RCV001145773RCV002070760

NM_000539.3(RHO):c.744G>A (p.Lys248=) SNV
Germline
Chr3:129532580 Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 1
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_141185480

3 SubmittersRCV001145774RCV001311612RCV001145775

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 SubmittersRCV001148539RCV001148540

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 SubmittersRCV001253990RCV001253989

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 SubmittersRCV001148966RCV001148967RCV002070807RCV003938513

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 SubmittersRCV001150066RCV001150067RCV001150068RCV001150069RCV001326315RCV003890308

NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) SNV
Germline
Chr4:15987699 Conflicting classifications of pathogenicity Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Stargardt disease 4
Retinitis pigmentosa
PROM1-related disorder
Optic atrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_199727800

4 SubmittersRCV001146429RCV001149203RCV001146428RCV001146430RCV004734032RCV004813801RCV001229010

NM_006017.3(PROM1):c.1738A>C (p.Asn580His) SNV
Germline
Chr4:15994016 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_199674847

4 SubmittersRCV001144700RCV001150814RCV001150815RCV001150813RCV001300999RCV003890296

NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) SNV
Germline
Chr4:15994044 Conflicting classifications of pathogenicity Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_201644238

3 SubmittersRCV001144701RCV001144702RCV001144703RCV001146664RCV002557089RCV003890297

NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) SNV
Germline
Chr4:16000606 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_536622788

3 SubmittersRCV001146761RCV001144802RCV001144803RCV001144804RCV003890298RCV001326038

NM_006017.3(PROM1):c.1407G>A (p.Pro469=) SNV
Germline
Chr4:16006585 Conflicting classifications of pathogenicity Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_763710252

3 SubmittersRCV001146765RCV001146763RCV001146762RCV001146764RCV001442163RCV003890301

NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys) SNV
Germline
Chr4:16009055 Conflicting classifications of pathogenicity Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_770268627

2 SubmittersRCV001151116RCV001151118RCV001151115RCV001151117RCV001858986

NM_006017.3(PROM1):c.706G>A (p.Val236Met) SNV
Germline
Chr4:16023404 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_536161084

3 SubmittersRCV001147066RCV001147065RCV001147960RCV001147064RCV001234845RCV003890302

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
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_199556426

4 SubmittersRCV001147173RCV001147175RCV001147176RCV001147174RCV001241210RCV004813803

NM_006017.3(PROM1):c.158G>A (p.Gly53Asp) SNV
Germline
Chr4:16075749 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_755064227

3 SubmittersRCV001366102RCV001145316RCV001147260RCV001145315RCV001145317RCV003890299

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 SubmittersRCV001147267RCV001443703

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 SubmittersRCV001148174RCV001522513

NM_000539.3(RHO):c.361+10G>A SNV
Germline
Chr3:129529104 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 1
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_372128112

3 SubmittersRCV001145666RCV001145667RCV002070759RCV004813800

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 SubmittersRCV001143874RCV001143873RCV002070735

NM_006017.3(PROM1):c.2582+9A>C SNV
Germline
Chr4:15979386 Conflicting classifications of pathogenicity Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa
Condition: not provided
Retinal macular dystrophy type 2
Criteria Provided
Conflicting Classifications
rs_200033458

2 SubmittersRCV001145614RCV001145615RCV001145616RCV002557115RCV001145728

NM_006017.3(PROM1):c.1579-12A>C SNV
Germline
Chr4:15998500 Conflicting classifications of pathogenicity Cone-rod dystrophy 12
Retinitis pigmentosa
Stargardt disease 4
Retinal macular dystrophy type 2
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_370183490

2 SubmittersRCV001147571RCV001147572RCV001147574RCV001147573RCV002070791

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 SubmittersRCV001144910RCV001151004RCV001151005RCV001151006

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 SubmittersRCV001144911RCV001144912RCV001144913RCV001144914

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 SubmittersRCV001148176RCV001513433

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 SubmittersRCV001149738RCV002557220

NM_000283.4(PDE6B):c.59G>A (p.Arg20His) SNV
Germline
Chr4:625685 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_781251175

3 SubmittersRCV001151130RCV001151131RCV001301724RCV004032791

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 SubmittersRCV001151253RCV001156705RCV001454853

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 SubmittersRCV001151254RCV001151255RCV002070829

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 SubmittersRCV001151256RCV001151257RCV002070830

NM_000283.4(PDE6B):c.316C>T (p.Leu106=) SNV
Germline
Chr4:625942 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_752429712

2 SubmittersRCV001151259RCV001151260RCV002557261

NM_000283.4(PDE6B):c.344C>T (p.Pro115Leu) SNV
Germline
Chr4:625970 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_189172362

3 SubmittersRCV001154324RCV001154323RCV002032423RCV004032810

NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser) SNV
Germline
Chr4:654863 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_140224236

4 SubmittersRCV001154093RCV001154092RCV001394923RCV003890311

NM_000283.4(PDE6B):c.1506C>T (p.Tyr502=) SNV
Germline
Chr4:660505 Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_750323428

2 SubmittersRCV001154206RCV001154207RCV002070884

NM_000283.4(PDE6B):c.1805G>A (p.Arg602His) SNV
Germline
Chr4:662591 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Congenital stationary night blindness autosomal dominant 2
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_752846577

3 SubmittersRCV001156707RCV001301231RCV001156706RCV003890313

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 SubmittersRCV001156710RCV001156711RCV001615127

NM_000283.4(PDE6B):c.2470A>G (p.Lys824Glu) SNV
Germline
Chr4:667973 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Congenital stationary night blindness autosomal dominant 2
Criteria Provided
Conflicting Classifications
rs_138682290

2 SubmittersRCV001154417RCV001209911RCV001154418

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 SubmittersRCV001157028RCV001157029

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 SubmittersRCV001153712RCV001406173

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 SubmittersRCV001156328RCV001489443

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 SubmittersRCV001156329RCV002559502

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 SubmittersRCV001153811RCV002070875

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 SubmittersRCV001152639RCV002070855

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 SubmittersRCV001153919RCV001486691

NM_000440.3(PDE6A):c.285C>T (p.Ser95=) SNV
Germline
Chr5:149944389 Conflicting classifications of pathogenicity Condition: not provided
PDE6A-related disorder
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_765008436

3 SubmittersRCV002070877RCV003898149RCV001153920

NM_003322.6(TULP1):c.1569C>T (p.Cys523=) SNV
Germline
Chr6:35498387 Conflicting classifications of pathogenicity Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_768536269

2 SubmittersRCV001153581RCV001153580RCV002070872

NM_003322.6(TULP1):c.1563G>A (p.Pro521=) SNV
Germline
Chr6:35498393 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 15
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1031077618

2 SubmittersRCV001156196RCV001156195RCV001458705

NM_003322.6(TULP1):c.1169G>A (p.Arg390His) SNV
Germline
Chr6:35503792 Conflicting classifications of pathogenicity Leber congenital amaurosis 15
Inborn genetic diseases
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_139402633

3 SubmittersRCV001157866RCV002557350RCV001157867RCV001349738

NM_003322.6(TULP1):c.1152C>T (p.Asn384=) SNV
Germline
Chr6:35503809 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 15
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_371436525

2 SubmittersRCV001157868RCV001157869RCV002070946

NM_003322.6(TULP1):c.541G>C (p.Val181Leu) SNV
Germline
Chr6:35509887 Conflicting classifications of pathogenicity Leber congenital amaurosis 15
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_576738703

2 SubmittersRCV001152496RCV001858997RCV001157951

NM_000283.4(PDE6B):c.2352+14G>A SNV
Germline
Chr4:666628 Conflicting classifications of pathogenicity Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_752968664

2 SubmittersRCV001151391RCV001151392RCV002557265

NM_000283.4(PDE6B):c.2353-13C>T SNV
Germline
Chr4:667843 Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_369466418

2 SubmittersRCV001151393RCV001151394RCV002070834

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 SubmittersRCV001157993RCV002070947

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 SubmittersRCV001151576RCV003698842

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 SubmittersRCV001154589RCV001415537

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 SubmittersRCV001157109RCV003698846

NM_003322.6(TULP1):c.1112+8T>C SNV
Germline
Chr6:35505733 Conflicting classifications of pathogenicity Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1286919081

2 SubmittersRCV001157871RCV001157870RCV002559519

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 SubmittersRCV001163363RCV001432086

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 SubmittersRCV001163364RCV001426384

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 SubmittersRCV001163655RCV001405777

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 SubmittersRCV001163656RCV003890333

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 SubmittersRCV001163658RCV002032506RCV003890334

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
Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy
Patterned macular dystrophy 1
Criteria Provided
Conflicting Classifications
rs_572613522

1 SubmittersRCV001159042RCV001159043RCV001160386RCV001160387RCV001160384RCV001160385

NM_000322.5(PRPH2):c.*509G>A SNV
Germline
Chr6:42697786 Conflicting classifications of pathogenicity Patterned macular dystrophy 1
Adult-onset foveomacular vitelliform dystrophy
Pigmentary retinal dystrophy
Choroidal dystrophy, central areolar 2
Cone-rod dystrophy
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_56194662

1 SubmittersRCV001162319RCV001162320RCV001162321RCV001162323RCV001162322RCV001162324

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
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy
Criteria Provided
Conflicting Classifications
rs_113384495

1 SubmittersRCV001160909RCV001160911RCV001160912RCV001160910RCV001160913RCV001160914

NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu) SNV
Germline
Chr6:42698381 Conflicting classifications of pathogenicity Retinitis pigmentosa
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Cone-rod dystrophy
Adult-onset foveomacular vitelliform dystrophy
PRPH2-related disorder
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_139329966

4 SubmittersRCV001159752RCV001159753RCV001159754RCV001159755RCV001164673RCV001164674RCV001359073RCV001530390RCV003890320

NM_000322.5(PRPH2):c.852C>A (p.Arg284=) SNV
Germline
Chr6:42698484 Conflicting classifications of pathogenicity Adult-onset foveomacular vitelliform dystrophy
Retinitis pigmentosa
Pigmentary retinal dystrophy
Choroidal dystrophy, central areolar 2
Cone-rod dystrophy
Patterned macular dystrophy 1
PRPH2-related disorder
Criteria Provided
Conflicting Classifications
rs_745807357

2 SubmittersRCV001162822RCV001162823RCV001162825RCV001162824RCV001161272RCV001162826RCV002558532

NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser) SNV
Germline
Chr6:42721989 Conflicting classifications of pathogenicity Retinitis pigmentosa
Patterned macular dystrophy 1
Cone-rod dystrophy
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy
Condition: not provided
Adult-onset foveomacular vitelliform dystrophy
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_140227298

3 SubmittersRCV001158297RCV001158294RCV001158296RCV001158293RCV001158295RCV001530223RCV001165013RCV003890315

NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg) SNV
Germline
Chr6:42722291 Conflicting classifications of pathogenicity Cone-rod dystrophy
Patterned macular dystrophy 1
Retinitis pigmentosa
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy
Adult-onset foveomacular vitelliform dystrophy
Retinal dystrophy
PRPH2-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_555112175

4 SubmittersRCV001165225RCV001165226RCV001165227RCV001163150RCV001163149RCV001163151RCV003890331RCV002559561RCV001530272

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 SubmittersRCV001159544RCV001441002

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 SubmittersRCV001159548RCV001422171

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 SubmittersRCV001162533RCV003565471

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 SubmittersRCV001164566RCV001446688RCV001833722

NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile) SNV
Germline
Chr6:64590876 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_561830314

5 SubmittersRCV001164681RCV001245603RCV001828578RCV004813821

NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val) SNV
Germline
Chr6:64591504 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_183144150

5 SubmittersRCV001161168RCV001828575RCV001349026RCV003890326

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 SubmittersRCV001162726RCV003890329

NM_001142800.2(EYS):c.2546G>A (p.Arg849His) SNV
Germline
Chr6:64912579 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 25
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_775080539

3 SubmittersRCV001164891RCV001833723RCV001318901

NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys) SNV
Germline
Chr6:65295887 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
not specified
Autosomal recessive retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_765763663

4 SubmittersRCV001159986RCV002032475RCV002249743RCV001278519

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 SubmittersRCV001162940RCV001429474

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 SubmittersRCV001158308RCV001246017RCV001828573RCV003890316

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 SubmittersRCV001161511RCV001430124

NM_001142800.2(EYS):c.77G>A (p.Arg26Gln) SNV
Germline
Chr6:65495334 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinitis pigmentosa 25
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_528733427

5 SubmittersRCV001163040RCV001836123RCV003890330RCV001202977

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 SubmittersRCV001161183RCV001161184

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 SubmittersRCV001162849RCV001162848RCV001462652

NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp) SNV
Germline
Chr7:128396635 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided
Retinitis pigmentosa 10
Criteria Provided
Conflicting Classifications
rs_375914533

3 SubmittersRCV001162850RCV001162851RCV001510613RCV001593301

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 SubmittersRCV001161420RCV001161421RCV002558539

NM_000883.4(IMPDH1):c.561C>T (p.Asn187=) SNV
Germline
Chr7:128400835 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1042250

2 SubmittersRCV001162955RCV001162954RCV001393541

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 SubmittersRCV001163291RCV003890332

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 SubmittersRCV001163295RCV001515906

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 SubmittersRCV001165398RCV001421165

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 SubmittersRCV001165399RCV002559584RCV003890337

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 SubmittersRCV001165400RCV002068005

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 SubmittersRCV001158672RCV003438688

NM_152419.3(HGSNAT):c.591T>C (p.Ser197=) SNV
Germline
Chr8:43169200 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Conflicting Classifications
rs_1355715592

2 SubmittersRCV001164230RCV001492187

NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=) SNV
Germline
Chr8:43196971 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Conflicting Classifications
rs_371042202

2 SubmittersRCV001160692RCV001407361

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 SubmittersRCV001158391RCV001441781

NM_006269.2(RP1):c.2825C>T (p.Thr942Met) SNV
Germline
Chr8:54626707 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_112323560

3 SubmittersRCV001304039RCV001158499RCV002557356

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 SubmittersRCV001161708RCV002558541

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 SubmittersRCV001161712RCV001410846

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 SubmittersRCV001165331RCV001357149RCV003953553

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 SubmittersRCV001165333RCV001439939

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 SubmittersRCV001165449RCV001501910

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 SubmittersRCV001159546RCV002070969

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 SubmittersRCV001160924RCV002070992

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 SubmittersRCV001158307RCV001486239

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 SubmittersRCV001165037RCV001165038RCV001402946

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 SubmittersRCV001165397RCV001435249

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 SubmittersRCV001165510RCV001165511

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 SubmittersRCV001165514RCV001165515

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 SubmittersRCV001169630RCV001169631

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 SubmittersRCV001169635RCV001169634

NM_005802.5(TOPORS):c.2234C>G (p.Ser745Cys) SNV
Germline
Chr9:32542291 Conflicting classifications of pathogenicity Retinitis pigmentosa
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_758096681

3 SubmittersRCV001169505RCV003293915RCV001482157

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 SubmittersRCV001165481RCV002558607RCV003890338

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

3 SubmittersRCV001165485RCV001424280

NM_005802.5(TOPORS):c.1707A>G (p.Ser569=) SNV
Germline
Chr9:32542818 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_368712338

2 SubmittersRCV001435142RCV001167079

NM_005802.5(TOPORS):c.1170A>T (p.Ser390=) SNV
Germline
Chr9:32543355 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_763061457

2 SubmittersRCV001399086RCV001167082

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 SubmittersRCV001167660RCV002068027

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 SubmittersRCV001167663RCV001480677

NM_006915.3(RP2):c.11T>G (p.Phe4Cys) SNV
Germline
ChrX:46837111 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_782190396

2 SubmittersRCV001522598RCV001168266

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_002242.4(KCNJ13):c.431T>C (p.Leu144Pro) SNV
Germline
Chr2:232770932 Likely pathogenic Retinitis pigmentosa
Leber congenital amaurosis 16
Criteria Provided
Single Submitter
rs_1361858388

2 SubmittersRCV004813155RCV001269022

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
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1667454188

2 SubmittersRCV001269025RCV004794496

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 SubmittersRCV001199960RCV004570414

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 SubmittersRCV001198223RCV001859201RCV003449635RCV003449636

NM_016247.4(IMPG2):c.1087C>T (p.Gln363Ter) SNV
Germline
Chr3:101257595 Pathogenic Retinitis pigmentosa 56
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_753747821

3 SubmittersRCV001197524RCV004813841RCV001384529

NM_000283.4(PDE6B):c.1859A>G (p.His620Arg) SNV
Germline
Chr4:663126 Conflicting classifications of pathogenicity Retinitis pigmentosa 40
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_1737315492

2 SubmittersRCV001198799RCV004794503

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 SubmittersRCV001197522RCV001876281

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 SubmittersRCV001199345RCV002069290

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 Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Conflicting Classifications
rs_1665481687

3 SubmittersRCV001217937RCV003449689RCV002484183RCV003449687RCV003449688

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 SubmittersRCV001223808RCV003473781RCV003887920

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 SubmittersRCV001222640RCV001780150

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

3 SubmittersRCV001223571RCV003132292

NM_001142800.2(EYS):c.5462C>T (p.Thr1821Ile) SNV
Germline
Chr6:64590405 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 25
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_776654329

3 SubmittersRCV001224081RCV001836172RCV004978145

NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter) SNV
Germline
Chr6:64590912 Pathogenic Condition: not provided
EYS-related disorder
Retinitis pigmentosa 25
Criteria Provided
Multiple Submitters
No Conflicts
rs_909730457

4 SubmittersRCV001224199RCV003983852RCV001828789

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 SubmittersRCV001221842RCV003145415

NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) SNV
Germline
Chr16:1602499 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
IFT140-related disorder
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_1471379682

3 SubmittersRCV001221113RCV004753238RCV002497752

NM_201253.3(CRB1):c.379C>T (p.Gln127Ter) SNV
Germline
Chr1:197328730 Pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Single Submitter
rs_1658673791

1 SubmittersRCV001204868

NM_201253.3(CRB1):c.1841G>T (p.Gly614Val) SNV
Germline
Chr1:197421669 Pathogenic Leber congenital amaurosis 8
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
rs_763111500

6 SubmittersRCV002250730RCV003230647RCV001201454RCV003449640RCV003449639RCV001833768

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 SubmittersRCV001208723RCV004570448

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 SubmittersRCV001202936RCV003462680

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 SubmittersRCV001209939RCV003462702

NM_000329.3(RPE65):c.917C>T (p.Thr306Ile) SNV
Germline
Chr1:68439023 Likely pathogenic Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_1171545533

3 SubmittersRCV001212438RCV003469354RCV004801931

NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys) SNV
Germline
Chr1:68439303 Pathogenic Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
rs_373652862

3 SubmittersRCV001206748RCV003469337RCV001833815

NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp) SNV
Germline
Chr2:27461361 Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Inborn genetic diseases
IFT172-related disorder
Criteria Provided
Conflicting Classifications
rs_137906877

5 SubmittersRCV001213704RCV001586056RCV002504255RCV002561823RCV004548069

NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys) SNV
Germline
Chr2:27461794 Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder
Criteria Provided
Conflicting Classifications
rs_147744868

4 SubmittersRCV001211918RCV001751388RCV003336334RCV004548066

NM_015662.3(IFT172):c.148A>T (p.Arg50Ter) SNV
Germline
Chr2:27485395 Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
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 SubmittersRCV001208283RCV003388936

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
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_764523283

3 SubmittersRCV001205616RCV003938562RCV004726955

NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro) SNV
Germline
Chr4:15557452 Pathogenic Meckel-Gruber syndrome
Familial aplasia of the vermis
Retinitis pigmentosa 93
Criteria Provided
Single Submitter
rs_200707391

2 SubmittersRCV001207137RCV002251560

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 SubmittersRCV001212513RCV001250303RCV001530282

NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn) SNV
Germline
Chr6:63721047 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_1211856182

5 SubmittersRCV001208831RCV004813875RCV003462698RCV003226443

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 SubmittersRCV001213720RCV003462720

NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr) SNV
Germline
Chr6:64081864 Pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25
Criteria Provided
Multiple Submitters
No Conflicts
rs_1562190751

3 SubmittersRCV001213850RCV003887912RCV003469359

NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter) SNV
Germline
Chr8:43182183 Pathogenic Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Multiple Submitters
No Conflicts
rs_756420301

2 SubmittersRCV001204409RCV004570431

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 SubmittersRCV001210372RCV002471044RCV004033795

NM_144596.4(TTC8):c.4A>G (p.Ser2Gly) SNV
Germline
Chr14:88824711 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Inborn genetic diseases
Bardet-Biedl syndrome 8
Retinitis pigmentosa 51
TTC8-related disorder
Criteria Provided
Conflicting Classifications
rs_759112760

4 SubmittersRCV001206292RCV002561222RCV002497706RCV003405389

NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu) SNV
Germline
Chr16:1525267 Conflicting classifications of pathogenicity Inborn genetic diseases
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
rs_200561100

3 SubmittersRCV004033739RCV001208700RCV002504245

NM_014714.4(IFT140):c.329G>A (p.Arg110His) SNV
Germline
Chr16:1602410 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
rs_371077545

2 SubmittersRCV001210181RCV002480693

NM_001297.5(CNGB1):c.595C>T (p.Arg199Cys) SNV
Germline
Chr16:57960054 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Retinal dystrophy
Retinitis pigmentosa 45
CNGB1-related disorder
Criteria Provided
Conflicting Classifications
rs_199583058

5 SubmittersRCV001207760RCV002561664RCV004813868RCV002491630RCV003953580

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 SubmittersRCV001213552RCV003469357

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 SubmittersRCV001210075RCV003469347

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 SubmittersRCV001205737RCV001833806

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 SubmittersRCV001201450RCV003890342

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 SubmittersRCV002480683RCV001208661

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 SubmittersRCV001214301RCV004570473

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 SubmittersRCV001224891RCV003469394

NM_000329.3(RPE65):c.726-2A>T SNV
Germline
Chr1:68439325 Pathogenic Leber congenital amaurosis 2
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_878853372

4 SubmittersRCV001250705RCV004813910RCV001224577

NM_201548.5(CERKL):c.1074-1G>C SNV
Germline
Chr2:181548605 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 26
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_927261937

6 SubmittersRCV001219755RCV001724268RCV004813903

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 SubmittersRCV001217429RCV001828727

NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter) SNV
Germline
Chr1:197421209 Pathogenic/Likely pathogenic Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_1664292210

3 SubmittersRCV003449717RCV001228468RCV001780159RCV003449718

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 SubmittersRCV001237375RCV001352966

NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro) SNV
Germline
Chr1:197427583 Conflicting classifications of pathogenicity Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_896160584

3 SubmittersRCV001232801RCV004813938RCV001779138

NM_201253.3(CRB1):c.3952A>T (p.Lys1318Ter) SNV
Germline
Chr1:197442239 Pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter
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 SubmittersRCV001235584RCV001828874RCV003469432

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 SubmittersRCV001231420RCV002307704RCV003462787

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 SubmittersRCV001232014RCV004570579

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 SubmittersRCV001230360RCV003462783

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 SubmittersRCV001232520RCV001249898RCV001836188

NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter) SNV
Germline
Chr1:216324270 Pathogenic/Likely pathogenic Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_2037682180

5 SubmittersRCV001237068RCV003389490RCV003462803RCV003388606

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 SubmittersRCV001238369RCV003770275

NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val) SNV
Germline
Chr1:94046937 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
rs_1291080436

3 SubmittersRCV001230252RCV004587084

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
IFT172-related disorder
Criteria Provided
Single Submitter
rs_762958757

2 SubmittersRCV001227918RCV004738202

NM_015662.3(IFT172):c.3005T>A (p.Leu1002His) SNV
Germline
Chr2:27457947 Conflicting classifications of pathogenicity Inborn genetic diseases
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
IFT172-related disorder
Criteria Provided
Conflicting Classifications
rs_369466577

4 SubmittersRCV002562603RCV001225617RCV001570125RCV004548077

NM_015662.3(IFT172):c.1983T>A (p.His661Gln) SNV
Germline
Chr2:27463136 Conflicting classifications of pathogenicity Condition: not provided
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
Retinitis pigmentosa 71
IFT172-related disorder
Criteria Provided
Conflicting Classifications
rs_150739354

4 SubmittersRCV001760224RCV002484250RCV001229036RCV004548081

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 SubmittersRCV001238187RCV003462807

NM_000539.3(RHO):c.888G>C (p.Lys296Asn) SNV
Germline
Chr3:129532724 Pathogenic Condition: not provided
Retinitis pigmentosa 4
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_2084793009

3 SubmittersRCV001228505RCV001265163RCV004813923

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
Retinitis pigmentosa and erythrocytic microcytosis
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_199931785

3 SubmittersRCV001237758RCV001249658

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 SubmittersRCV001235330RCV003323829

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 SubmittersRCV001230006RCV003469406

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 SubmittersRCV001231026RCV001834002RCV003323825

NM_001142800.2(EYS):c.2992G>A (p.Gly998Ser) SNV
Germline
Chr6:64886697 Pathogenic Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy
Criteria Provided
Single Submitter
rs_1010982936

3 SubmittersRCV001227059RCV001833962RCV004813916

NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter) SNV
Germline
Chr6:79493708 Pathogenic Condition: not provided
Leber congenital amaurosis 5
Retinitis pigmentosa
Polycystic liver disease 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_151017794

5 SubmittersRCV001234057RCV001828861RCV001724273RCV004813160

NM_152419.3(HGSNAT):c.679C>T (p.Gln227Ter) SNV
Germline
Chr8:43170630 Pathogenic Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
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 SubmittersRCV001230459RCV002491739

NM_014714.4(IFT140):c.4159G>A (p.Val1387Met) SNV
Germline
Chr16:1518239 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
rs_142668269

3 SubmittersRCV001237799RCV001773540RCV002491769

NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val) SNV
Germline
Chr16:1519932 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_376151586

4 SubmittersRCV001238483RCV002480779RCV003263877RCV003456484

NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser) SNV
Germline
Chr16:1525897 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
rs_566450108

2 SubmittersRCV001231897RCV002491744

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 SubmittersRCV001228961RCV002504304

NM_014714.4(IFT140):c.683C>G (p.Ser228Cys) SNV
Germline
Chr16:1589732 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
rs_752659125

2 SubmittersRCV001237193RCV002484297

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 SubmittersRCV001225821RCV002250733

NM_201253.3(CRB1):c.601T>C (p.Cys201Arg) SNV
Germline
Chr1:197328952 Conflicting classifications of pathogenicity Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Conflicting Classifications
rs_762835866

2 SubmittersRCV001243685RCV004570621

NM_201253.3(CRB1):c.1094G>A (p.Arg365His) SNV
Germline
Chr1:197356936 Conflicting classifications of pathogenicity Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_777528044

3 SubmittersRCV001241405RCV001828975RCV003353255

NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met) SNV
Germline
Chr1:215970653 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Conflicting Classifications
rs_151057466

7 SubmittersRCV001239617RCV001376450RCV001834098

NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) SNV
Germline
Chr1:68444593 Conflicting classifications of pathogenicity Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 20
Criteria Provided
Conflicting Classifications
rs_767528365

7 SubmittersRCV001244171RCV001701309RCV001836228RCV004813999RCV004813998

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 Likely pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_750724065

5 SubmittersRCV001243775RCV001773551RCV001829042RCV004556080RCV004801934

NM_000350.3(ABCA4):c.4070C>T (p.Ala1357Val) SNV
Germline
Chr1:94031836 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_552517556

4 SubmittersRCV001244465RCV004814000RCV004782683

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 SubmittersRCV001247332RCV001835295RCV002568678RCV003887971

NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) SNV
Germline
Chr2:27480036 Conflicting classifications of pathogenicity Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
not specified
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Criteria Provided
Conflicting Classifications
rs_146332658

5 SubmittersRCV001240662RCV001595073RCV001819939RCV002491796RCV004548093

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 SubmittersRCV001245591RCV001829960RCV002568627

NM_001379270.1(CNGA1):c.1873C>T (p.Arg625Ter) SNV
Germline
Chr4:47936609 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 49
Criteria Provided
Multiple Submitters
No Conflicts
rs_376959147

2 SubmittersRCV001248447RCV002499434

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 SubmittersRCV001247233RCV003106162

NM_001142800.2(EYS):c.9414T>G (p.Asp3138Glu) SNV
Germline
Chr6:63720617 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25
Criteria Provided
Conflicting Classifications
rs_374161234

4 SubmittersRCV001238996RCV003887947RCV001828912

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 SubmittersRCV001248690RCV001830049RCV003323834RCV003887974

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 SubmittersRCV001240007RCV001280445RCV003353250

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

3 SubmittersRCV001239419RCV003469451

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 SubmittersRCV001241784RCV001828985

NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys) SNV
Germline
Chr8:43170666 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
rs_369292480

6 SubmittersRCV001247922RCV001250769RCV001835315RCV002265017RCV003235516

NM_006269.2(RP1):c.4804C>T (p.Gln1602Ter) SNV
Germline
Chr8:54628686 Pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 1
Criteria Provided
Multiple Submitters
No Conflicts
rs_1359338583

3 SubmittersRCV001243547RCV004813994RCV001376336

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 SubmittersRCV001239290RCV001810002

NM_014714.4(IFT140):c.3526G>A (p.Val1176Met) SNV
Germline
Chr16:1520736 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
rs_764946729

2 SubmittersRCV001240773RCV002491798

NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp) SNV
Germline
Chr16:1584357 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
rs_754373519

2 SubmittersRCV001243980RCV002504351

NM_031885.5(BBS2):c.962C>T (p.Thr321Met) SNV
Germline
Chr16:56502435 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Inborn genetic diseases
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
BBS2-related disorder
Criteria Provided
Conflicting Classifications
rs_758548498

5 SubmittersRCV001243382RCV003365284RCV001829026RCV002484343RCV004538507

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 SubmittersRCV001226168RCV001828805RCV003473786

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 SubmittersRCV001233874RCV003462795

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 SubmittersRCV001226427RCV001833957RCV003462775

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 SubmittersRCV001230466RCV001833994RCV003469408

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 SubmittersRCV001237443RCV004570604

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 SubmittersRCV001225797RCV001828800

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 SubmittersRCV001234946RCV001834035

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 SubmittersRCV001237350RCV001828888

NM_014714.4(IFT140):c.3874-1G>A SNV
Germline
Chr16:1520048 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_749563050

2 SubmittersRCV001234793RCV002497804

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 SubmittersRCV001248098RCV004570635

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 SubmittersRCV001242662RCV003462819

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 SubmittersRCV001242249RCV002466648RCV003469461

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_006017.3(PROM1):c.2281-2A>G SNV
Germline
Chr4:15984357 Likely pathogenic Condition: not provided
Retinitis pigmentosa 41
Retinal macular dystrophy type 2
Criteria Provided
Single Submitter
rs_1718768311

2 SubmittersRCV001240495RCV003483805

NM_006017.3(PROM1):c.1682+3A>G SNV
Germline
Chr4:15998382 Pathogenic Condition: not provided
Retinitis pigmentosa 41
Retinal macular dystrophy type 2
Criteria Provided
Single Submitter
rs_1326022839

2 SubmittersRCV001240494RCV003483804

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 SubmittersRCV001248584RCV001724275

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 SubmittersRCV001246553RCV002307708RCV003887967

NM_001377458.1(CLCC1):c.75C>A (p.Asp25Glu) SNV
Germline
Chr1:108950363 Pathogenic/Likely pathogenic Retinitis pigmentosa 32
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_750180668

3 SubmittersRCV001248856RCV001876296RCV004794519

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 Pathogenic/Likely pathogenic Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1667480949

2 SubmittersRCV001249866RCV004814020

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 SubmittersRCV001249872RCV001879767

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 SubmittersRCV001249886RCV001879768

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 SubmittersRCV001250340RCV001250341RCV001386135RCV001530379

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 SubmittersRCV001250289RCV001530317RCV002570421

NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe) SNV
Germline
Chr6:42721841 Conflicting classifications of pathogenicity Retinitis pigmentosa
PRPH2-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_61755788

3 SubmittersRCV001250330RCV001379008RCV001530224

NM_201253.3(CRB1):c.691C>T (p.Gln231Ter) SNV
Germline
Chr1:197344319 Pathogenic Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Single Submitter
rs_1659642763

2 SubmittersRCV001250634RCV001879782

NM_201253.3(CRB1):c.805C>T (p.Gln269Ter) SNV
Germline
Chr1:197344433 Pathogenic Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Single Submitter
rs_753224594

2 SubmittersRCV001250635RCV003770299

NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys) SNV
Germline
Chr1:197427559 Pathogenic/Likely pathogenic Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
rs_28939720

3 SubmittersRCV001250643RCV001879784

NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter) SNV
Germline
Chr1:197427791 Pathogenic Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Single Submitter
rs_1664669402

2 SubmittersRCV001250650RCV002568707

NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) SNV
Germline
Chr1:197477800 Pathogenic Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1667264651

6 SubmittersRCV001250641RCV001879783RCV002246235RCV003449809RCV004800755

NM_000329.3(RPE65):c.993G>A (p.Trp331Ter) SNV
Germline
Chr1:68438947 Pathogenic/Likely pathogenic Leber congenital amaurosis 2
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Criteria Provided
Multiple Submitters
No Conflicts
rs_1645879569

4 SubmittersRCV001250692RCV001257822RCV002570429RCV004798894

NM_000329.3(RPE65):c.706A>T (p.Lys236Ter) SNV
Germline
Chr1:68439580 Pathogenic Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Criteria Provided
Single Submitter
rs_1645885900

2 SubmittersRCV001250699RCV001390652

NM_000329.3(RPE65):c.246-11A>G SNV
Germline
Chr1:68444894 Likely pathogenic Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinal dystrophy
Reviewed By Expert Panel
rs_905365719

7 SubmittersRCV001250681RCV002307711RCV002480862RCV002570428RCV003770300RCV004814022

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
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Criteria Provided
Conflicting Classifications
rs_61740250

3 SubmittersRCV001251461RCV001314402RCV004548104

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 SubmittersRCV001251571RCV003647834

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 SubmittersRCV001251530RCV002570455

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 SubmittersRCV001251610RCV002568717

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 SubmittersRCV001251597RCV001724277

NM_001034853.2(RPGR):c.2006G>A (p.Trp669Ter) SNV
Germline
ChrX:38286993 Pathogenic Retinitis pigmentosa 3
Primary ciliary dyskinesia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_2067196800

3 SubmittersRCV001251560RCV002570459RCV004719117

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 SubmittersRCV001251557RCV002570458

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 SubmittersRCV001255146RCV002570583

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 SubmittersRCV001255147RCV001378483

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 SubmittersRCV001255149RCV001879931

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 SubmittersRCV001255931RCV001386008RCV001810007

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 SubmittersRCV001256166RCV003586291

NM_000554.6(CRX):c.292C>T (p.Arg98Ter) SNV
Germline
Chr19:47839359 Pathogenic Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_751018117

2 SubmittersRCV001256189RCV001879957

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 SubmittersRCV001257868RCV003473841RCV003989663

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 SubmittersRCV001257861RCV003770345RCV004527416

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 SubmittersRCV001257863RCV001332031

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 SubmittersRCV001257866RCV003989662

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 SubmittersRCV001257867RCV003987818

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 SubmittersRCV001257872RCV003738028

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
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_2037760415

6 SubmittersRCV001257908RCV003323835RCV003449817RCV003469488RCV004814035RCV002570628

NM_000329.3(RPE65):c.1129-2A>G SNV
Germline
Chr1:68431587 Pathogenic Autosomal recessive retinitis pigmentosa
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_1645826941

2 SubmittersRCV001257815RCV004801935

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 Autosomal recessive retinitis pigmentosa
Condition: not provided
Criteria Provided
Single Submitter
rs_1677065097

2 SubmittersRCV001257902RCV001389470

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 SubmittersRCV001257878RCV001879981RCV003989664

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 SubmittersRCV001257885RCV002570627

NM_006269.2(RP1):c.606C>A (p.Asp202Glu) SNV
Germline
Chr8:54621572 Pathogenic/Likely pathogenic Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 1
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1805879513

5 SubmittersRCV001257896RCV002568760RCV003485699RCV004814034

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 Pathogenic Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 66
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_782245537

5 SubmittersRCV001257783RCV001376320RCV003558771

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 SubmittersRCV001257779RCV001376487RCV001377367

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 Familial aplasia of the vermis
Meckel-Gruber syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
rs_563610095

3 SubmittersRCV001880034RCV002499450RCV002541585

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 SubmittersRCV001262309RCV002537633

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
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Multiple Submitters
No Conflicts
rs_1803166332

2 SubmittersRCV001263600RCV003770370

NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter) SNV
Germline
Chr8:43158942 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Multiple Submitters
No Conflicts
rs_1803181154

2 SubmittersRCV001263602RCV003770371

NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter) SNV
Germline
Chr8:43178147 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Synovial plica syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_1803878901

3 SubmittersRCV001263606RCV001880063RCV002267635

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 SubmittersRCV001265170RCV001305331

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 SubmittersRCV001265172RCV001384459

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 SubmittersRCV001265173RCV001880087

NM_000539.3(RHO):c.284T>C (p.Leu95Pro) SNV
Germline
Chr3:129529017 Conflicting classifications of pathogenicity Retinitis pigmentosa 4
Condition: not provided
See cases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_2084758666

4 SubmittersRCV001265178RCV001345144RCV004584430RCV004814042

NM_000539.3(RHO):c.362G>T (p.Gly121Val) SNV
Germline
Chr3:129530876 Likely pathogenic Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1
Criteria Provided
Single Submitter
rs_2084774644

1 SubmittersRCV001265183RCV001265184

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 SubmittersRCV001265192RCV001880088

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 SubmittersRCV001265194RCV001377164

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
Retinal dystrophy
Criteria Provided
Single Submitter
rs_29001653

2 SubmittersRCV001265162RCV004814041

NM_205861.3(DHDDS):c.104G>A (p.Gly35Glu) SNV
Germline
Chr1:26438208 Likely pathogenic Inborn genetic diseases
Condition: not provided
Retinitis pigmentosa 59
Criteria Provided
Multiple Submitters
No Conflicts
rs_2075181154

3 SubmittersRCV001266622RCV001577222RCV001880122

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 SubmittersRCV003462847RCV001268158

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 SubmittersRCV001268230RCV001779148RCV002491871RCV003446677RCV003446678

NM_206933.4(USH2A):c.176G>A (p.Gly59Glu) SNV
Germline
Chr1:216422161 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_1378799607

4 SubmittersRCV001268038RCV003462845RCV004814046

NM_000350.3(ABCA4):c.4849-2A>G SNV
Germline
Chr1:94021411 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1659893796

3 SubmittersRCV001268157RCV003324561RCV004814049

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 SubmittersRCV001268684RCV003989667

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 SubmittersRCV001268061RCV003469498

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 SubmittersRCV001268037RCV003462844

NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) SNV
Germline
Chr16:1526044 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
rs_767213195

5 SubmittersRCV001268630RCV001380589RCV001724283RCV002290678

NM_014714.4(IFT140):c.2068-2A>G SNV
Germline
Chr16:1562118 Likely pathogenic Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_1489989834

2 SubmittersRCV001267908RCV002499458

NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) SNV
Germline
Chr16:1602527 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
not specified
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
rs_772757427

5 SubmittersRCV001268555RCV001379861RCV001586101RCV002250740

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 SubmittersRCV001268814RCV001376352

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_001201543.2(FAM161A):c.1484G>A (p.Arg495His) SNV
Germline
Chr2:61839520 Conflicting classifications of pathogenicity Retinitis pigmentosa 28
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_201998260

4 SubmittersRCV001279504RCV002542926RCV004978234

NM_001142800.2(EYS):c.6575A>G (p.Asn2192Ser) SNV
Germline
Chr6:64066488 Conflicting classifications of pathogenicity Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 25
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_750904267

3 SubmittersRCV001279255RCV002486057RCV003382495

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 SubmittersRCV001293399RCV002543021

NM_144596.4(TTC8):c.559C>T (p.Gln187Ter) SNV
Germline
Chr14:88841494 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Retinitis pigmentosa 51
Criteria Provided
Multiple Submitters
No Conflicts
rs_376035653

4 SubmittersRCV001293547RCV004004950RCV003462854

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 SubmittersRCV001293654RCV001363129RCV003887991

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 SubmittersRCV001293655RCV001343201

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
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
not specified
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_1268140508

7 SubmittersRCV001305846RCV001835485RCV002486190RCV003462874RCV004690069RCV004815312

NM_206933.4(USH2A):c.6225G>T (p.Trp2075Cys) SNV
Germline
Chr1:216046531 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 39
not specified
Criteria Provided
Conflicting Classifications
rs_1553294134

3 SubmittersRCV001295875RCV003469514RCV004699283

NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val) SNV
Germline
Chr2:27453511 Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Inborn genetic diseases
Bardet-Biedl syndrome
IFT172-related disorder
Criteria Provided
Conflicting Classifications
rs_543062539

5 SubmittersRCV001298479RCV002486144RCV002541865RCV003224553RCV004548136

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
FAM161A-related disorder
Criteria Provided
Conflicting Classifications
rs_199759978

4 SubmittersRCV001298494RCV001835418RCV002541866RCV004731122

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 SubmittersRCV001298241RCV002493571

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 SubmittersRCV001298461RCV002476385

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 SubmittersRCV001296361RCV002493557

NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn) SNV
Germline
Chr1:197421861 Conflicting classifications of pathogenicity Retinitis pigmentosa 12
Leber congenital amaurosis 8
Inborn genetic diseases
Leber congenital amaurosis
Criteria Provided
Conflicting Classifications
rs_139463596

3 SubmittersRCV001325558RCV003166908RCV001831005

NM_201253.3(CRB1):c.2223G>A (p.Met741Ile) SNV
Germline
Chr1:197427548 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter
rs_1664649489

1 SubmittersRCV001327036

NM_201253.3(CRB1):c.2815T>C (p.Cys939Arg) SNV
Germline
Chr1:197429587 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter
rs_1664775504

1 SubmittersRCV001316680

NM_201253.3(CRB1):c.3853T>C (p.Cys1285Arg) SNV
Germline
Chr1:197438650 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
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
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_1293619630

5 SubmittersRCV001315188RCV003235546RCV003473854RCV003449895RCV004796602

NM_015662.3(IFT172):c.184-6T>A SNV
Germline
Chr2:27485136 Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Criteria Provided
Conflicting Classifications
rs_371658303

3 SubmittersRCV001313779RCV002476448RCV004738243

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
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_569561277

6 SubmittersRCV001320706RCV001376518RCV003987831RCV004815364

NM_014714.4(IFT140):c.3271-5C>T SNV
Germline
Chr16:1523705 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
rs_368227090

2 SubmittersRCV001317088RCV002499615

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 SubmittersRCV001312273RCV002504475

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 SubmittersRCV001322378RCV002493686

NM_014714.4(IFT140):c.2407G>A (p.Val803Ile) SNV
Germline
Chr16:1526789 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
IFT140-related disorder
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_538791217

5 SubmittersRCV001327727RCV002486323RCV003405554RCV003169540RCV004692517

NM_000554.6(CRX):c.263A>G (p.Lys88Arg) SNV
Germline
Chr19:47839330 Conflicting classifications of pathogenicity Cone-rod dystrophy 2
Leber congenital amaurosis 7
Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy 2
Criteria Provided
Conflicting Classifications
rs_1001151383

4 SubmittersRCV001320521RCV001532383RCV001587340RCV003447588

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 SubmittersRCV001330111RCV001859272RCV003416217

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 SubmittersRCV001331784RCV001587350RCV001871824

NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) SNV
Germline
Chr16:1524836 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_766316995

5 SubmittersRCV001333079RCV002486331RCV003888030RCV004987085

NM_001367823.1(ARHGEF18):c.2905-1G>T SNV
Germline
Chr19:7466917 Likely pathogenic Retinitis pigmentosa 78
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_201797784

3 SubmittersRCV001332877RCV001871841RCV004815391

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 SubmittersRCV001972407RCV003453872

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
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1706436657

2 SubmittersRCV001591794RCV004815575

NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) SNV
Germline
Chr16:1586246 Pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Renal cyst
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1166261279

6 SubmittersRCV001785239RCV002503275RCV004785311RCV004815633

NM_001297.5(CNGB1):c.1217G>A (p.Trp406Ter) SNV
Germline
Chr16:57939585 Pathogenic Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_201286463

2 SubmittersRCV001382839RCV004770069

NM_201253.3(CRB1):c.1522T>C (p.Cys508Arg) SNV
Germline
Chr1:197421350 Pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
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
CRB1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_1031415706

3 SubmittersRCV001350386RCV003473873RCV004740672

NM_205861.3(DHDDS):c.366C>T (p.Gly122=) SNV
Germline
Chr1:26446358 Conflicting classifications of pathogenicity Retinitis pigmentosa 59
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_774001400

3 SubmittersRCV001350415RCV004691429

NM_015662.3(IFT172):c.5069-3C>T SNV
Germline
Chr2:27445108 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_370108416

3 SubmittersRCV001348672RCV001547620RCV004548192

NM_001242957.3(MAK):c.79G>A (p.Gly27Arg) SNV
Germline
Chr6:10830570 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_754916169

2 SubmittersRCV001342546RCV004690084

NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg) SNV
Germline
Chr6:35505766 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis
Criteria Provided
Conflicting Classifications
rs_1761067394

4 SubmittersRCV001346724RCV001376325RCV004699323

NM_001142800.2(EYS):c.1675G>A (p.Ala559Thr) SNV
Germline
Chr6:65335071 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 25
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_1769934918

3 SubmittersRCV001337757RCV001836323RCV004978356

NM_001142800.2(EYS):c.1549C>T (p.Pro517Ser) SNV
Germline
Chr6:65344088 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 25
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_763331925

3 SubmittersRCV001337877RCV001831042RCV002546828

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

5 SubmittersRCV001349260RCV003479315RCV003888054

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 SubmittersRCV001340284RCV001831060

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 SubmittersRCV001349718RCV002476610

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 SubmittersRCV001339303RCV002493742

NM_014714.4(IFT140):c.561G>T (p.Lys187Asn) SNV
Germline
Chr16:1592249 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Conflicting Classifications
rs_139286030

3 SubmittersRCV001344891RCV002486401RCV004753291

NM_014714.4(IFT140):c.179G>A (p.Arg60Lys) SNV
Germline
Chr16:1602560 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_148093208

4 SubmittersRCV001340494RCV001773680RCV002504533RCV004035941

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 SubmittersRCV001347060RCV001376363

NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser) SNV
Germline
Chr1:94021280 Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa
ABCA4-related disorder
Criteria Provided
Conflicting Classifications
rs_1211325812

6 SubmittersRCV001353015RCV001379165RCV001724300RCV004733268

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 SubmittersRCV001353007RCV002547573

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_206933.4(USH2A):c.3026C>A (p.Ala1009Asp) SNV
Germline
Chr1:216217518 Conflicting classifications of pathogenicity Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_150729680

5 SubmittersRCV001358586RCV003450006RCV003450007RCV004815449

NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter) SNV
Germline
Chr2:29073342 Pathogenic Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 54
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1397537890

5 SubmittersRCV001355875RCV001724301RCV001587369RCV004815446

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Criteria Provided
Conflicting Classifications
rs_2125499116

3 SubmittersRCV001360674RCV003324562RCV003450009RCV003450008RCV003450010

NM_206933.4(USH2A):c.4251G>T (p.Gln1417His) SNV
Germline
Chr1:216196553 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
not specified
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_2102460239

5 SubmittersRCV001587370RCV001587371RCV004699335RCV001360099RCV004815453

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 SubmittersRCV001365783RCV001376389RCV003155401

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 SubmittersRCV001366509RCV004577354

NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln) SNV
Germline
Chr1:94108699 Conflicting classifications of pathogenicity Condition: not provided
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_759799179

2 SubmittersRCV001367497RCV002488138

NM_201548.5(CERKL):c.953T>C (p.Phe318Ser) SNV
Germline
Chr2:181548800 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 26
not specified
Criteria Provided
Conflicting Classifications
rs_745341953

3 SubmittersRCV001365186RCV001831256RCV004699340

NM_015662.3(IFT172):c.357A>G (p.Gln119=) SNV
Germline
Chr2:27483917 Conflicting classifications of pathogenicity Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinal dystrophy
IFT172-related disorder
Criteria Provided
Conflicting Classifications
rs_749934202

4 SubmittersRCV001361414RCV002499730RCV003888061RCV004738266

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 SubmittersRCV001374350RCV002254962RCV004550094

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 SubmittersRCV001366322RCV001826049

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 SubmittersRCV001364777RCV001831254

NM_001142800.2(EYS):c.2622G>T (p.Gln874His) SNV
Germline
Chr6:64912503 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 25
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_377592930

3 SubmittersRCV001369654RCV001826080RCV004619677

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 SubmittersRCV001373204RCV002222204RCV003324563

NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg) SNV
Germline
Chr9:6565428 Pathogenic/Likely pathogenic Glycine encephalopathy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_758575745

2 SubmittersRCV001360323RCV004545214

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 SubmittersRCV001370244RCV001826087RCV003447593

NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn) SNV
Germline
Chr16:1510955 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_777181948

3 SubmittersRCV001369014RCV002504612RCV004037069

NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn) SNV
Germline
Chr16:1586255 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
rs_201871050

2 SubmittersRCV001367739RCV002488140

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 SubmittersRCV001726538RCV001871962

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
rs_2125471502

2 SubmittersRCV001376384RCV001865898

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 SubmittersRCV001376408RCV001871988

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 SubmittersRCV001376509RCV001865905

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 Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_771810761

2 SubmittersRCV001376533RCV001445868

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 SubmittersRCV001376286RCV001380848

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 SubmittersRCV001376344RCV001389192

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 SubmittersRCV001376244RCV001865891

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 SubmittersRCV001376463RCV003542344

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 SubmittersRCV001376204RCV002550230

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 SubmittersRCV001376418RCV001871989

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 SubmittersRCV001376468RCV001865902RCV004531183

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 SubmittersRCV001376483RCV003771221RCV004531184

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 SubmittersRCV001376254RCV001724305RCV001865893RCV003416296

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 SubmittersRCV001376421RCV001871990RCV003155404RCV003888076

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 SubmittersRCV001376205RCV001871981

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
Retinal dystrophy
Criteria Provided
Single Submitter
rs_2036353653

2 SubmittersRCV001376379RCV004815501

NM_014249.4(NR2E3):c.151G>A (p.Gly51Arg) SNV
Germline
Chr15:71811515 Conflicting classifications of pathogenicity Retinitis pigmentosa 37
Condition: not provided
Retinal dystrophy
Enhanced S-cone syndrome
Criteria Provided
Conflicting Classifications
rs_544807110

4 SubmittersRCV001376380RCV001871986RCV003888075RCV003462941

NM_001297.5(CNGB1):c.2635-2A>T SNV
Germline
Chr16:57903983 Likely pathogenic Retinitis pigmentosa 45
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_2149358592

2 SubmittersRCV001376232RCV001871982

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 SubmittersRCV001376348RCV003542343

NM_015629.4(PRPF31):c.523C>T (p.Gln175Ter) SNV
Germline
Chr19:54123556 Pathogenic/Likely pathogenic Retinitis pigmentosa 11
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_2146418999

3 SubmittersRCV001376265RCV001871984RCV004815500

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 SubmittersRCV001376536RCV001865906

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 SubmittersRCV001376511RCV002550240

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 SubmittersRCV001376217RCV002464455

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 Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
rs_1383691293

3 SubmittersRCV001379038RCV003473913RCV001831365

NM_201253.3(CRB1):c.849-2A>G SNV
Germline
Chr1:197347338 Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_988534225

2 SubmittersRCV001378415RCV004570929

NM_201253.3(CRB1):c.1172-2A>G SNV
Germline
Chr1:197420998 Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_2125468772

2 SubmittersRCV001377494RCV004570924

NM_201253.3(CRB1):c.1172-1G>T SNV
Germline
Chr1:197420999 Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
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 Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified
Criteria Provided
Conflicting Classifications
rs_746597173

2 SubmittersRCV001379460RCV003230670

NM_201253.3(CRB1):c.1439G>C (p.Cys480Ser) SNV
Germline
Chr1:197421267 Pathogenic/Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
rs_62636265

2 SubmittersRCV001378739RCV004789562

NM_201253.3(CRB1):c.1690G>A (p.Asp564Asn) SNV
Germline
Chr1:197421518 Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Single Submitter
rs_757279881

1 SubmittersRCV001377887

NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys) SNV
Germline
Chr1:197421933 Pathogenic/Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1180527322

3 SubmittersRCV001377318RCV003473900RCV004699350

NM_201253.3(CRB1):c.2128+1G>C SNV
Germline
Chr1:197421957 Pathogenic/Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_2125472205

2 SubmittersRCV001379356RCV003473917

NM_201253.3(CRB1):c.2537G>A (p.Gly846Glu) SNV
Germline
Chr1:197427862 Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Single Submitter
rs_772476137

1 SubmittersRCV001378912

NM_201253.3(CRB1):c.3493T>C (p.Cys1165Arg) SNV
Germline
Chr1:197435356 Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Single Submitter
rs_767368951

1 SubmittersRCV001378741

NM_201253.3(CRB1):c.4006-1G>C SNV
Germline
Chr1:197477663 Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
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 SubmittersRCV001377319RCV003473901

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 SubmittersRCV001377091RCV002222707RCV003446733RCV003462944

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 SubmittersRCV001377391RCV001826127RCV003469625

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 SubmittersRCV001377634RCV003462952

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 SubmittersRCV001377902RCV001831348RCV003462953

NM_206933.4(USH2A):c.848+1G>T SNV
Germline
Chr1:216327590 Likely pathogenic Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_2102658764

3 SubmittersRCV001378809RCV004815506RCV003473912

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 SubmittersRCV001377031RCV002499773

NM_000329.3(RPE65):c.1243+1G>A SNV
Germline
Chr1:68431470 Likely pathogenic Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1421696563

2 SubmittersRCV001378085RCV005001218

NM_000329.3(RPE65):c.496-1G>A SNV
Germline
Chr1:68441001 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_2100821984

2 SubmittersRCV001379142RCV003462960

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 SubmittersRCV001377276RCV001826126

NM_000329.3(RPE65):c.344T>C (p.Ile115Thr) SNV
Germline
Chr1:68444785 Pathogenic/Likely pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1645929674

3 SubmittersRCV001377673RCV003469629RCV004596449

NM_000329.3(RPE65):c.3G>A (p.Met1Ile) SNV
Germline
Chr1:68449903 Pathogenic/Likely pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
rs_1357241537

2 SubmittersRCV001379122RCV004801002

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 SubmittersRCV001379291RCV001826151

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 SubmittersRCV001377413RCV003473902

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 SubmittersRCV001379810RCV002469386

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 SubmittersRCV001376926RCV002307736

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 SubmittersRCV001378480RCV001530314RCV002051942

NM_001142800.2(EYS):c.6415T>C (p.Cys2139Arg) SNV
Germline
Chr6:64230601 Likely pathogenic Condition: not provided
Retinitis pigmentosa 25
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_1378663182

3 SubmittersRCV001377570RCV003462951RCV004801001

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 SubmittersRCV001378543RCV003469634

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 SubmittersRCV001377238RCV001826125

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 SubmittersRCV001376874RCV001836382

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 SubmittersRCV001379124RCV001826150

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 SubmittersRCV001378356RCV004570928

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 SubmittersRCV001377501RCV003323871

NM_201253.3(CRB1):c.653-1G>A SNV
Germline
Chr1:197344280 Pathogenic/Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
rs_760287363

5 SubmittersRCV001380026RCV003319471RCV001587386

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 SubmittersRCV001386224RCV003473963

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
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
rs_769909288

5 SubmittersRCV001390796RCV003451695RCV003451694RCV001831405RCV002488213RCV003451693

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 SubmittersRCV001382300RCV003473939

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 Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_1246546027

2 SubmittersRCV003473953RCV001384585

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
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_752804194

4 SubmittersRCV001390944RCV003446738RCV003446740RCV002499822RCV003446739

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 SubmittersRCV001386343RCV004570962

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 SubmittersRCV001383267RCV003469690

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
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_1209837469

4 SubmittersRCV001388190RCV003450079RCV003450078RCV002499807

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 SubmittersRCV001386383RCV003463014

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 SubmittersRCV001387464RCV003469733

NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu) SNV
Germline
Chr1:68431106 Pathogenic/Likely pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
Leber congenital amaurosis 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_774211361

3 SubmittersRCV001383020RCV003128763RCV003469687

NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala) SNV
Germline
Chr1:68431116 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Reviewed By Expert Panel
rs_1395763356

3 SubmittersRCV001381888RCV003771239RCV003469666

NM_000329.3(RPE65):c.1028T>G (p.Leu343Ter) SNV
Germline
Chr1:68438287 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
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 SubmittersRCV001382384RCV003469676

NM_000329.3(RPE65):c.637C>T (p.Gln213Ter) SNV
Germline
Chr1:68440859 Pathogenic/Likely pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_777966849

2 SubmittersRCV001389735RCV003469763

NM_000329.3(RPE65):c.545A>G (p.His182Arg) SNV
Germline
Chr1:68440951 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_1459110114

3 SubmittersRCV001388256RCV003469740RCV004527424

NM_000329.3(RPE65):c.200T>G (p.Leu67Arg) SNV
Germline
Chr1:68446755 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_1344724754

3 SubmittersRCV001380404RCV003469648RCV003771233

NM_000329.3(RPE65):c.94G>T (p.Gly32Cys) SNV
Germline
Chr1:68448624 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Leber congenital amaurosis 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_768448761

3 SubmittersRCV001380405RCV001826156RCV003469649

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 SubmittersRCV001381702RCV003226469

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 SubmittersRCV001388834RCV003469747

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 Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Criteria Provided
Single Submitter
rs_778898472

1 SubmittersRCV001388444

NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter) SNV
Germline
Chr2:27453658 Pathogenic/Likely pathogenic 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
Multiple Submitters
No Conflicts
rs_999731005

2 SubmittersRCV001380017RCV002476718

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 SubmittersRCV001380347RCV003145650

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 SubmittersRCV001389558RCV003226472RCV003469759

NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter) SNV
Germline
Chr3:97768111 Pathogenic Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 1
ARL6-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_771628868

3 SubmittersRCV001389155RCV002246376RCV004746364

NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter) SNV
Germline
Chr4:15533264 Pathogenic Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel-Gruber syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93
Criteria Provided
Multiple Submitters
No Conflicts
rs_2109029867

4 SubmittersRCV001387946RCV001814315RCV004733283RCV004796624

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 SubmittersRCV001380418RCV003222314

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 SubmittersRCV001382537RCV001702590RCV002272466

NM_001242957.3(MAK):c.7C>T (p.Arg3Ter) SNV
Germline
Chr6:10830642 Pathogenic/Likely pathogenic Condition: not provided
MAK-related disorder
Retinitis pigmentosa 62
Criteria Provided
Multiple Submitters
No Conflicts
rs_558628181

3 SubmittersRCV001384965RCV003973223RCV004557581

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
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1554269046

5 SubmittersRCV001389849RCV001530322RCV002290706RCV002468637RCV003388844RCV004815528

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 SubmittersRCV001381530RCV003462977

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 SubmittersRCV001384118RCV003473950

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 SubmittersRCV001382261RCV003469673

NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter) SNV
Germline
Chr6:64626127 Pathogenic Condition: not provided
Retinitis pigmentosa 25
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_2149856749

5 SubmittersRCV001382262RCV001831383RCV004815516

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 SubmittersRCV001381737RCV003136056

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

4 SubmittersRCV001390157RCV003469768RCV003888090

NM_152419.3(HGSNAT):c.376G>T (p.Glu126Ter) SNV
Germline
Chr8:43158927 Pathogenic Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Criteria Provided
Single Submitter
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 SubmittersRCV001380314RCV003336392

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

4 SubmittersRCV001408271RCV002276728RCV002504682

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 SubmittersRCV001420530RCV002070261

NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu) SNV
Germline
Chr2:27447581 Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_540171862

4 SubmittersRCV001433172RCV002495599RCV004550157RCV004774446

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 SubmittersRCV001445303RCV002559321RCV002501568

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 SubmittersRCV001494802RCV002284969

NM_003611.3(OFD1):c.494C>T (p.Ser165Leu) SNV
Germline
ChrX:13744496 Conflicting classifications of pathogenicity Familial aplasia of the vermis
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Joubert syndrome 10
Orofaciodigital syndrome I
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
rs_756793358

3 SubmittersRCV001517035RCV002501798RCV004037941

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 SubmittersRCV001526730RCV002568133

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_000322.5(PRPH2):c.745G>A (p.Gly249Ser) SNV
Germline
Chr6:42704448 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 7
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_2152005248

3 SubmittersRCV001530329RCV001810072RCV004815556

NM_003611.3(OFD1):c.1411+1G>A SNV
Unknown
ChrX:13756768 Pathogenic Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Joubert syndrome 10
Orofaciodigital syndrome I
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 SubmittersRCV001814363RCV002570636RCV003470857

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 SubmittersRCV001542729RCV002032541

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 SubmittersRCV001542558RCV002032535

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 SubmittersRCV001542534RCV002032533

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 SubmittersRCV001542516RCV002568949

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 SubmittersRCV001553487RCV003451808

NM_201253.3(CRB1):c.2340C>T (p.Pro780=) SNV
Germline
Chr1:197427665 Conflicting classifications of pathogenicity Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications
rs_2125484301

2 SubmittersRCV001563883RCV001563882RCV002072150

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 SubmittersRCV001563770RCV001563771RCV002070393

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 SubmittersRCV001578929RCV001578930RCV001578931RCV001578932RCV002570817

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 SubmittersRCV001580686RCV001580687

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
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Criteria Provided
Multiple Submitters
No Conflicts
rs_2151801050

2 SubmittersRCV001591784RCV003389497RCV003771780

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
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
Bardet-Biedl syndrome
IFT172-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_568736482

6 SubmittersRCV001591793RCV002571156RCV002506690RCV003224574RCV004551934RCV004692703

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 SubmittersRCV001591813RCV002569127

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 SubmittersRCV001591816RCV002571158

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 SubmittersRCV001591824RCV002569129

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 SubmittersRCV001591830RCV001866151

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 SubmittersRCV001591836RCV002571159

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 SubmittersRCV001591837RCV003888307RCV003565484

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 SubmittersRCV001591840RCV002571160

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 SubmittersRCV001591849RCV001866155

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 SubmittersRCV001591875RCV001866157

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 SubmittersRCV001591876RCV002573306

NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro) SNV
Germline
Chr1:216190235 Conflicting classifications of pathogenicity Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_757315203

3 SubmittersRCV001591878RCV001591879RCV003314694

NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys) SNV
Germline
Chr1:216323546 Likely pathogenic Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_756570931

6 SubmittersRCV004815576RCV001591881RCV001882712RCV003324566

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 SubmittersRCV001591884RCV002571161

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 SubmittersRCV001591888RCV003226481

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
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_1344137236

3 SubmittersRCV001591915RCV001866159RCV004815577

NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe) SNV
Germline
Chr16:28486599 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal dystrophy
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis
Criteria Provided
Conflicting Classifications
rs_1401497994

4 SubmittersRCV001591920RCV004815578RCV002471126RCV001866161

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 SubmittersRCV001591937RCV002569133RCV003888308

NM_001142800.2(EYS):c.5283T>A (p.Tyr1761Ter) SNV
Germline
Chr6:64590584 Pathogenic Retinitis pigmentosa 25
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1158231145

3 SubmittersRCV001591939RCV001866167

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
Developmental delay and seizures with or without movement abnormalities
Retinitis pigmentosa 59
Criteria Provided
Multiple Submitters
No Conflicts
rs_1553121072

5 SubmittersRCV001593456RCV003333167RCV001866177

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 SubmittersRCV001637980RCV001637979RCV002538519RCV003324567

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

5 SubmittersRCV001682656RCV002246455RCV002538608

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 SubmittersRCV001701217RCV003463058

NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter) SNV
Germline
Chr6:64945866 Pathogenic Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 25
Criteria Provided
Multiple Submitters
No Conflicts
rs_992863438

4 SubmittersRCV001699706RCV003388034RCV003463059

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 SubmittersRCV001699670RCV003323916RCV002538631

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
Condition: not provided
Retinitis pigmentosa 43
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_759589388

4 SubmittersRCV001724800RCV002032669RCV002503172RCV003888315

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_000539.3(RHO):c.568G>C (p.Asp190His) SNV
Germline
Chr3:129532288 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_104893779

3 SubmittersRCV001724812RCV004815598RCV002539737

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
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_2147197770

2 SubmittersRCV001724823RCV004815599

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 SubmittersRCV001724825RCV003128272

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 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_111033273

3 SubmittersRCV001724840RCV002543875RCV004526858

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 SubmittersRCV001724844RCV002032670RCV003451858

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 SubmittersRCV001724846RCV001882786RCV003451860

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 SubmittersRCV001724848RCV002227533

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 SubmittersRCV001724851RCV002227535RCV003222341

NM_025114.4(CEP290):c.4705-2A>C SNV
Germline
Chr12:88083956 Conflicting classifications of pathogenicity Retinitis pigmentosa
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Leber congenital amaurosis 10
Criteria Provided
Conflicting Classifications
rs_2137170380

2 SubmittersRCV001724852RCV001859437RCV002227536

NM_001379270.1(CNGA1):c.234C>A (p.Tyr78Ter) SNV
Germline
Chr4:47949886 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
CNGA1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_1436425494

4 SubmittersRCV001724853RCV003558851RCV004757474

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 SubmittersRCV001724857RCV002539742

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 SubmittersRCV001724859RCV002227538

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 SubmittersRCV001724860RCV002539743

NM_001142800.2(EYS):c.174G>A (p.Trp58Ter) SNV
Germline
Chr6:65495237 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 25
Criteria Provided
Multiple Submitters
No Conflicts
rs_1177052380

3 SubmittersRCV001724863RCV001882787RCV003470880

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 SubmittersRCV001724864RCV002506743RCV002538667

NM_201253.3(CRB1):c.3881G>A (p.Cys1294Tyr) SNV
Germline
Chr1:197442168 Conflicting classifications of pathogenicity Cone-rod dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Conflicting Classifications
rs_754575460

2 SubmittersRCV001725800RCV002539755

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_001031710.3(KLHL7):c.1229G>A (p.Trp410Ter) SNV
Germline
Chr7:23167887 Pathogenic Retinitis pigmentosa 42 Criteria Provided
Single Submitter
rs_2128469727

1 SubmittersRCV004798917

NM_201253.3(CRB1):c.997G>C (p.Gly333Arg) SNV
Germline
Chr1:197356839 Pathogenic/Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_778232235

3 SubmittersRCV001861045RCV001733784RCV003451871

NM_201548.5(CERKL):c.112C>T (p.Gln38Ter) SNV
Germline
Chr2:181656895 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 26
Criteria Provided
Multiple Submitters
No Conflicts
rs_776566319

3 SubmittersRCV001753971RCV003474018

NM_206933.4(USH2A):c.4280T>C (p.Leu1427Pro) SNV
Germline
Chr1:216190339 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Conflicting Classifications
rs_373130157

3 SubmittersRCV001757935RCV003451876RCV003451875

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 SubmittersRCV001752298RCV002539930

NM_015662.3(IFT172):c.3769C>T (p.Leu1257=) SNV
Germline
Chr2:27453682 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Criteria Provided
Conflicting Classifications
rs_373382907

3 SubmittersRCV001773937RCV001882854RCV004552000

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 SubmittersRCV001774186RCV002282574RCV002488562

NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro) SNV
Germline
Chr1:94001009 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_2100993895

3 SubmittersRCV001755001RCV002489788

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 SubmittersRCV001755610RCV002074039

NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly) SNV
Germline
Chr4:15515919 Conflicting classifications of pathogenicity Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_375247004

4 SubmittersRCV001753222RCV001868722RCV002478000RCV004968278

NM_201253.3(CRB1):c.3221T>C (p.Leu1074Ser) SNV
Germline
Chr1:197435084 Pathogenic Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter
rs_751303205

2 SubmittersRCV001771820RCV001885124

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 SubmittersRCV001775532RCV003120686RCV003470896RCV004527431

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 SubmittersRCV001780518RCV003772134

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
SCAPER-related disorder
Criteria Provided
Single Submitter
rs_2050148457

2 SubmittersRCV001783713RCV004731179

NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) SNV
Germline
Chr16:1523884 Pathogenic/Likely pathogenic Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_1432688490

6 SubmittersRCV001795767RCV002541298RCV002503283RCV004753392RCV003888321

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 SubmittersRCV001806792RCV002541387RCV003470922

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 SubmittersRCV001808029RCV001869579

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 SubmittersRCV001808133RCV002468642

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 SubmittersRCV001808306RCV002542435

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_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 SubmittersRCV001844531RCV002225940RCV003888332

NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile) SNV
Germline
Chr1:215838103 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_200382994

7 SubmittersRCV001844784RCV003464157RCV002543341RCV003888334

NM_201253.3(CRB1):c.2159A>T (p.Asp720Val) SNV
Germline
Chr1:197427484 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter
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
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_370699359

3 SubmittersRCV001944847RCV002478158RCV004793549

NM_201253.3(CRB1):c.3787A>T (p.Lys1263Ter) SNV
Germline
Chr1:197438584 Pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter
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 SubmittersRCV001989396RCV003475274

NM_000329.3(RPE65):c.12-1G>C SNV
Germline
Chr1:68448707 Likely pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
rs_1348031618

2 SubmittersRCV001963808RCV004699598

NM_002900.3(RBP3):c.3341G>A (p.Arg1114Gln) SNV
Germline
Chr10:47355471 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 66
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_201185969

4 SubmittersRCV001880369RCV002468646RCV004815666

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 SubmittersRCV001990744RCV003464335

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 SubmittersRCV001939275RCV003324571RCV003453815RCV003471091

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 Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_1645879495

3 SubmittersRCV001993735RCV003471214RCV003773037

NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu) SNV
Germline
Chr16:1520664 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
rs_566568065

2 SubmittersRCV002036692RCV002486795

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 SubmittersRCV001865088RCV003228805RCV003888350

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 Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_56021047

2 SubmittersRCV001999882RCV004571710

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 SubmittersRCV002000554RCV003464353

NM_014714.4(IFT140):c.2717G>A (p.Arg906His) SNV
Germline
Chr16:1525938 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_754338217

3 SubmittersRCV001871301RCV002506957RCV003289173

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 SubmittersRCV001936758RCV003475192

NM_201253.3(CRB1):c.2549G>T (p.Gly850Val) SNV
Germline
Chr1:197427874 Pathogenic/Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_757137398

2 SubmittersRCV001908346RCV004571537

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 SubmittersRCV001947728RCV004571610

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 SubmittersRCV001953352RCV003475194

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 SubmittersRCV001973205RCV002492177

NM_201253.3(CRB1):c.2497G>T (p.Gly833Cys) SNV
Germline
Chr1:197427822 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
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 SubmittersRCV001960324RCV003471093

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 Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_2100804954

2 SubmittersRCV001963988RCV003471217

NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser) SNV
Germline
Chr1:197421176 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_1664290387

2 SubmittersRCV001995121RCV002250793

NM_015662.3(IFT172):c.2866C>T (p.Gln956Ter) SNV
Germline
Chr2:27458790 Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Criteria Provided
Single Submitter
rs_144450109

2 SubmittersRCV001900064RCV004552063

NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter) SNV
Germline
Chr16:1564026 Pathogenic/Likely pathogenic Retinitis pigmentosa 80
See cases
Saldino-Mainzer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_2141540660

3 SubmittersRCV002250785RCV002252731RCV001964909

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 SubmittersRCV001970146RCV003475228

NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter) SNV
Germline
Chr1:216196587 Pathogenic Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_1308702971

4 SubmittersRCV003464309RCV001950926RCV002469440RCV003453869

NM_001278293.3(ARL6):c.479+1G>A SNV
Germline
Chr3:97788120 Likely pathogenic Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Criteria Provided
Single Submitter
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 SubmittersRCV002023188RCV002492367

NM_201253.3(CRB1):c.2053G>A (p.Gly685Arg) SNV
Germline
Chr1:197421881 Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Single Submitter
rs_779069205

1 SubmittersRCV002031648

NM_000329.3(RPE65):c.644-2A>C SNV
Germline
Chr1:68439644 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Criteria Provided
Single Submitter
rs_61752891

1 SubmittersRCV001935730

NM_206933.4(USH2A):c.8002G>T (p.Glu2668Ter) SNV
Germline
Chr1:215888647 Pathogenic Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts
rs_2102460193

3 SubmittersRCV001907542RCV004571444RCV004796671

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 SubmittersRCV002042503RCV002246649RCV002509739

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 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
not specified
Criteria Provided
Conflicting Classifications
rs_753315223

2 SubmittersRCV001966989RCV004770327

NM_001142800.2(EYS):c.749-2A>G SNV
Germline
Chr6:65490709 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 25
Criteria Provided
Conflicting Classifications
rs_1766011028

3 SubmittersRCV002040255RCV003888991RCV003464375

NM_201253.3(CRB1):c.3361C>T (p.Gln1121Ter) SNV
Germline
Chr1:197435224 Pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
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 SubmittersRCV001952360RCV002507606

NM_000329.3(RPE65):c.725+2T>A SNV
Germline
Chr1:68439559 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_1355979496

2 SubmittersRCV001953857RCV003471183

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 SubmittersRCV001953858RCV003471184

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 SubmittersRCV002008565RCV003475270

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 SubmittersRCV001912151RCV003470984

NM_014714.4(IFT140):c.1331T>C (p.Met444Thr) SNV
Germline
Chr16:1584245 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_148663745

3 SubmittersRCV001964383RCV002484861RCV004631880

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 SubmittersRCV001910773RCV003471004

NM_201253.3(CRB1):c.2249G>T (p.Gly750Val) SNV
Germline
Chr1:197427574 Pathogenic/Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_2125483925

3 SubmittersRCV001940368RCV003452164RCV003452165RCV003238878

NM_000329.3(RPE65):c.1580A>G (p.His527Arg) SNV
Germline
Chr1:68429798 Pathogenic Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Reviewed By Expert Panel
rs_1194458561

3 SubmittersRCV001982688RCV004571683RCV004527438

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 SubmittersRCV001916664RCV003389503

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 SubmittersRCV001912516RCV003471006

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 SubmittersRCV001943648RCV003324569

NM_014714.4(IFT140):c.328C>A (p.Arg110Ser) SNV
Germline
Chr16:1602411 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_140159548

3 SubmittersRCV001912199RCV002482609RCV003339787

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 SubmittersRCV001975189RCV003324574RCV003471194

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
IFT172-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_774548930

3 SubmittersRCV002006167RCV002497968RCV004738483

NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser) SNV
Germline
Chr16:1583370 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
rs_778311141

2 SubmittersRCV002048657RCV002486725

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 SubmittersRCV001910736RCV002246599

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 SubmittersRCV002005489RCV002507733RCV003446976RCV003446977

NM_201253.3(CRB1):c.3863G>A (p.Gly1288Asp) SNV
Germline
Chr1:197438660 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter
rs_533997742

1 SubmittersRCV001971616

NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) SNV
Germline
Chr2:27447832 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
IFT172-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_150246251

3 SubmittersRCV001900954RCV002490161RCV004738423

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 SubmittersRCV001946129RCV002471192

NM_201253.3(CRB1):c.2640T>G (p.Asn880Lys) SNV
Germline
Chr1:197427965 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
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 SubmittersRCV002040066RCV002307769RCV003451986RCV003451985

NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) SNV
Germline
Chr4:15574243 Pathogenic Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided
Joubert syndrome 9
Joubert syndrome 1
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
Criteria Provided
Multiple Submitters
No Conflicts
rs_1022325907

5 SubmittersRCV001919810RCV002463064RCV002554223RCV003444065RCV004796678

NM_014336.5(AIPL1):c.276+1G>A SNV
Germline
Chr17:6433918 Pathogenic/Likely pathogenic Leber congenital amaurosis 4
Leber congenital amaurosis 4
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
rs_150097891

2 SubmittersRCV002007326RCV002497862

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 SubmittersRCV001899522RCV003888364RCV004571461

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 SubmittersRCV002021914RCV003471116

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 SubmittersRCV001912801RCV003475151

NM_201253.3(CRB1):c.4005+2T>C SNV
Germline
Chr1:197442294 Pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Single Submitter
rs_2125514028

1 SubmittersRCV001994673

NM_001242957.3(MAK):c.1143+6T>C SNV
Germline
Chr6:10795992 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 62
Criteria Provided
Conflicting Classifications
rs_1394158081

2 SubmittersRCV001972255RCV003388846

NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter) SNV
Germline
Chr1:197427577 Pathogenic/Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts
rs_1409490389

2 SubmittersRCV002035427RCV003475209

NM_201253.3(CRB1):c.848+1G>A SNV
Germline
Chr1:197344477 Pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_2125328634

3 SubmittersRCV001900241RCV003475135RCV004815701

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 Retinitis pigmentosa 20
Leber congenital amaurosis 2
Criteria Provided
Single Submitter
rs_2100828545

1 SubmittersRCV001942144

NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) SNV
Germline
Chr2:27445320 Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Criteria Provided
Multiple Submitters
No Conflicts
rs_1329856696

2 SubmittersRCV001962945RCV002497875

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 SubmittersRCV001962952RCV003471164

NM_201253.3(CRB1):c.3653G>C (p.Cys1218Ser) SNV
Germline
Chr1:197435516 Conflicting classifications of pathogenicity Retinitis pigmentosa 12
Leber congenital amaurosis 8
not specified
Criteria Provided
Conflicting Classifications
rs_1450635782

2 SubmittersRCV002013759RCV004699644

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
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_763140298

3 SubmittersRCV002013907RCV002486672RCV004982846

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 SubmittersRCV001942039RCV003471158

NM_206933.4(USH2A):c.14134-3169A>G SNV
Germline
Chr1:215653970 Pathogenic/Likely pathogenic Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Retinitis pigmentosa
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_998302546

3 SubmittersRCV001989163RCV003324581RCV003446982RCV003324580RCV003446981

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 SubmittersRCV002046207RCV003475298

NM_000329.3(RPE65):c.405T>A (p.Asn135Lys) SNV
Germline
Chr1:68444621 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Criteria Provided
Single Submitter
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 SubmittersRCV002031133RCV003471281

NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg) SNV
Germline
Chr16:1525930 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
rs_201100248

2 SubmittersRCV001965229RCV002484693

NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp) SNV
Germline
Chr1:215900144 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
rs_1394948601

3 SubmittersRCV001893744RCV003888392RCV003471017

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 SubmittersRCV001994842RCV003471143

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 SubmittersRCV002002507RCV003471144

NM_000329.3(RPE65):c.725+1G>A SNV
Germline
Chr1:68439560 Pathogenic/Likely pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_1260969698

2 SubmittersRCV001941576RCV003471147

NM_152419.3(HGSNAT):c.781G>T (p.Gly261Ter) SNV
Germline
Chr8:43172347 Pathogenic Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
Criteria Provided
Single Submitter
rs_2130750698

1 SubmittersRCV001960510

NM_015662.3(IFT172):c.184-2A>C SNV
Germline
Chr2:27485132 Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_2148559396

2 SubmittersRCV002035036RCV004552055

NM_201253.3(CRB1):c.2842+2T>C SNV
Germline
Chr1:197429616 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter
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 SubmittersRCV001877710RCV003228806

NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg) SNV
Germline
Chr1:197435305 Pathogenic/Likely pathogenic Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_2125500491

4 SubmittersRCV003475229RCV001951032RCV004690198

NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter) SNV
Germline
Chr2:27459815 Pathogenic/Likely pathogenic 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
Retinitis pigmentosa 71
Criteria Provided
Multiple Submitters
No Conflicts
rs_761095604

2 SubmittersRCV002507702RCV001972379

NM_201253.3(CRB1):c.652+1G>A SNV
Germline
Chr1:197329004 Pathogenic/Likely pathogenic Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
rs_2125304900

4 SubmittersRCV003446979RCV002037978RCV004816874RCV002246640RCV003446978

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_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 SubmittersRCV001894137RCV002503398

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 SubmittersRCV001966539RCV003471208

NM_205861.3(DHDDS):c.112C>T (p.Arg38Cys) SNV
Germline
Chr1:26438216 Conflicting classifications of pathogenicity Retinitis pigmentosa 59
Developmental delay and seizures with or without movement abnormalities
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_2124374558

3 SubmittersRCV001966556RCV003152785RCV002255191

NM_201253.3(CRB1):c.3749+1G>A SNV
Germline
Chr1:197435613 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter
rs_2125501295

1 SubmittersRCV001991452

NM_201253.3(CRB1):c.2536G>A (p.Gly846Arg) SNV
Germline
Chr1:197427861 Pathogenic/Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_539189291

2 SubmittersRCV001963012RCV004794566

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 SubmittersRCV001942337RCV003475225

NM_000329.3(RPE65):c.725+2T>C SNV
Germline
Chr1:68439559 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Criteria Provided
Single Submitter
rs_1355979496

1 SubmittersRCV001958678

NM_201253.3(CRB1):c.998G>C (p.Gly333Ala) SNV
Germline
Chr1:197356840 Pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
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 SubmittersRCV001956081RCV004571740

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 SubmittersRCV001956100RCV002497885RCV003453876RCV003453877

NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter) SNV
Germline
Chr1:215798991 Pathogenic Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_2102778615

4 SubmittersRCV001956108RCV004571741RCV003453878

NM_015662.3(IFT172):c.2146C>T (p.Gln716Ter) SNV
Germline
Chr2:27461806 Pathogenic Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
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
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
rs_528350505

2 SubmittersRCV001960245RCV002479538

NM_015662.3(IFT172):c.2521+1G>T SNV
Germline
Chr2:27461014 Likely pathogenic Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
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 SubmittersRCV001961671RCV004571852

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

4 SubmittersRCV002019364RCV003475279RCV003888988

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
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
rs_191927317

2 SubmittersRCV001909274RCV002490239

NM_201253.3(CRB1):c.2393T>A (p.Leu798Ter) SNV
Germline
Chr1:197427718 Pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter
rs_2125484499

1 SubmittersRCV001918230

NM_144596.4(TTC8):c.145-10T>C SNV
Germline
Chr14:88839442 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Retinitis pigmentosa 51
Criteria Provided
Conflicting Classifications
rs_754997963

2 SubmittersRCV001935799RCV002479412

NM_015629.4(PRPF31):c.251T>C (p.Val84Ala) SNV
Germline
Chr19:54121872 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 11
Criteria Provided
Conflicting Classifications
rs_369049017

4 SubmittersRCV002002588RCV003888959RCV004785424

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 SubmittersRCV002026997RCV004571989

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
IFT172-related disorder
Criteria Provided
Conflicting Classifications
rs_370903625

3 SubmittersRCV001863567RCV003164055RCV004738398

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 SubmittersRCV001974701RCV003471085

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 SubmittersRCV001863426RCV004571431

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
Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Conflicting Classifications
rs_779599960

2 SubmittersRCV001913997RCV002484545

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 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
not specified
Criteria Provided
Conflicting Classifications
rs_2130754863

2 SubmittersRCV002009085RCV004770348

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 SubmittersRCV002021183RCV004571984

NM_205861.3(DHDDS):c.565G>A (p.Asp189Asn) SNV
Germline
Chr1:26457813 Conflicting classifications of pathogenicity Retinal dystrophy
Retinitis pigmentosa 59
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_748833924

4 SubmittersRCV004815660RCV002039943RCV002547894RCV003883711

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 SubmittersRCV001968354RCV002272542RCV004044459

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 SubmittersRCV002021771RCV003138052

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 SubmittersRCV001892459RCV004571519

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
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Criteria Provided
Multiple Submitters
No Conflicts
rs_2125506459

4 SubmittersRCV001986193RCV003453932RCV003453933RCV002492273RCV003453931

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 SubmittersRCV001957632RCV003471086

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 SubmittersRCV001979261RCV003471204

NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr) SNV
Germline
Chr1:216190315 Conflicting classifications of pathogenicity Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Criteria Provided
Conflicting Classifications
rs_752059469

2 SubmittersRCV002022445RCV002486640

NM_152419.3(HGSNAT):c.1543-2A>G SNV
Germline
Chr8:43197670 Likely pathogenic Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
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
Retinal dystrophy
Condition: not provided
IFT140-related disorder
Criteria Provided
Conflicting Classifications
rs_148462329

5 SubmittersRCV002038579RCV002507824RCV004816938RCV004694153RCV004753478

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 SubmittersRCV002038632RCV003471279

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 SubmittersRCV002030771RCV004571995

NM_014714.4(IFT140):c.1504G>A (p.Val502Ile) SNV
Germline
Chr16:1580779 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
rs_183261797

2 SubmittersRCV001981015RCV002507764

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 SubmittersRCV002161543RCV003889090

NM_015662.3(IFT172):c.4611C>T (p.Ile1537=) SNV
Germline
Chr2:27447563 Conflicting classifications of pathogenicity Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinal dystrophy
Criteria Provided
Conflicting Classifications
rs_901644807

2 SubmittersRCV002196502RCV003889099

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 SubmittersRCV002103182RCV003889044

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 SubmittersRCV002087318RCV003889016

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 SubmittersRCV002135605RCV003061773

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 SubmittersRCV002213404RCV004526908

NM_015662.3(IFT172):c.337-5C>T SNV
Germline
Chr2:27483942 Conflicting classifications of pathogenicity Inborn genetic diseases
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Criteria Provided
Conflicting Classifications
rs_141086523

3 SubmittersRCV004045675RCV004553690RCV002207760

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
RPE65-related recessive retinopathy
Leber congenital amaurosis
Reviewed By Expert Panel
rs_1375943362

5 SubmittersRCV002226568RCV003101291RCV004527444RCV003987987

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 SubmittersRCV002226808RCV003093893RCV003889103

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 SubmittersRCV002238768RCV002481046

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
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_61755796

3 SubmittersRCV002249143RCV003152791RCV004816984

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
Retinal dystrophy
Criteria Provided
Single Submitter
rs_2147291936

2 SubmittersRCV002249155RCV004816985

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 SubmittersRCV002251050RCV002464522

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 SubmittersRCV002251087RCV003101370

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 SubmittersRCV002252864RCV003447619

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 Bardet-Biedl syndrome 8
Retinitis pigmentosa 51
Bardet-Biedl syndrome
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_139234943

3 SubmittersRCV002262185RCV003095955RCV004816991

NM_000283.4(PDE6B):c.1775C>T (p.Thr592Ile) SNV
Germline
Chr4:662561 Likely pathogenic Retinitis pigmentosa 40
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
rs_747684283

2 SubmittersRCV002271996RCV004794579

NM_000188.3(HK1):c.1240G>A (p.Gly414Arg) SNV
Germline
Chr10:69380070 Pathogenic/Likely pathogenic Neurodevelopmental delay
Condition: not provided
Retinitis pigmentosa 79
Criteria Provided
Multiple Submitters
No Conflicts
rs_2132871580

3 SubmittersRCV002274344RCV003096169RCV004770434

NM_000329.3(RPE65):c.992G>A (p.Trp331Ter) SNV
Germline
Chr1:68438948 Pathogenic Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_761471961

3 SubmittersRCV002278955RCV003096295RCV003471304

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 SubmittersRCV002282842RCV003471307

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 SubmittersRCV002284799RCV003471314

NM_206933.4(USH2A):c.10817T>C (p.Leu3606Pro) SNV
Germline
Chr1:215779965 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Criteria Provided
Conflicting Classifications

4 SubmittersRCV002287043RCV003471315RCV004700715

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 SubmittersRCV003097723RCV003454076RCV004584488

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 Pathogenic Autosomal recessive retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Single Submitter

2 SubmittersRCV003108009RCV004794583

NM_014714.4(IFT140):c.1155+1G>A SNV
Germline
Chr16:1586129 Likely pathogenic Retinitis pigmentosa
Renal cyst
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002308671RCV004785570

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 SubmittersRCV002308735RCV003464446

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 SubmittersRCV002310316RCV003464447

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 SubmittersRCV002444360RCV003103036

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 SubmittersRCV002466929RCV003669320

NM_015662.3(IFT172):c.786-2A>T SNV
Germline
Chr2:27480151 Conflicting classifications of pathogenicity Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Criteria Provided
Conflicting Classifications

3 SubmittersRCV002471620RCV002571459RCV004738582

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 SubmittersRCV002471841RCV003775513

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 SubmittersRCV002473986RCV004526932

NM_000883.4(IMPDH1):c.942G>C (p.Lys314Asn) SNV
Germline
Chr7:128398546 Pathogenic Retinitis pigmentosa 10 Criteria Provided
Single Submitter

1 SubmittersRCV004798947

NM_001142800.2(EYS):c.8098A>T (p.Arg2700Ter) SNV
Germline
Chr6:63726654 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 25
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003058798RCV003465940

NM_201253.3(CRB1):c.3166G>C (p.Asp1056His) SNV
Germline
Chr1:197435029 Conflicting classifications of pathogenicity Retinitis pigmentosa 12
Leber congenital amaurosis 8
not specified
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003053333RCV004690354

NM_015662.3(IFT172):c.3130C>T (p.Arg1044Ter) SNV
Germline
Chr2:27457737 Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003058907RCV004725497

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 Likely pathogenic Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Reviewed By Expert Panel

3 SubmittersRCV003065733RCV004572741RCV004801943

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_014053.4(FLVCR1):c.1058C>T (p.Thr353Met) SNV
Germline
Chr1:212883404 Pathogenic/Likely pathogenic Condition: not provided
Posterior column ataxia-retinitis pigmentosa syndrome
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003079015RCV004786815

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 SubmittersRCV003061528RCV003459736

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 SubmittersRCV003079016RCV003388149RCV003465946RCV003455689

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 SubmittersRCV003079018RCV003226567RCV003455690

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 SubmittersRCV003079244RCV003989145

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 SubmittersRCV002610139RCV003410098

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 SubmittersRCV002615637RCV003459757

NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn) SNV
Germline
Chr8:43192380 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
not specified
Criteria Provided
Conflicting Classifications

3 SubmittersRCV003111629RCV002632455RCV003235773

NM_001201543.2(FAM161A):c.493C>T (p.Gln165Ter) SNV
Germline
Chr2:61840511 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 28
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002592284RCV003459755RCV004818228

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 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002651404RCV003459770RCV004801297

NM_206933.4(USH2A):c.9449G>A (p.Trp3150Ter) SNV
Germline
Chr1:215817118 Pathogenic Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002651408RCV003459771

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 SubmittersRCV002664209RCV003475521

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 SubmittersRCV002634294RCV003465996

NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg) SNV
Germline
Chr1:197421188 Conflicting classifications of pathogenicity Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
not specified
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications

3 SubmittersRCV002651385RCV003455745RCV003455744RCV003324081RCV003455743

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 SubmittersRCV002664202RCV003475520

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 SubmittersRCV002651756RCV003466001

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 SubmittersRCV002651782RCV003324588

NM_144596.4(TTC8):c.677G>A (p.Trp226Ter) SNV
Germline
Chr14:88853023 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Retinal dystrophy
Retinitis pigmentosa 51
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003104968RCV004818285RCV003459776

NM_152419.3(HGSNAT):c.494-1G>A SNV
Germline
Chr8:43161437 Pathogenic Mucopolysaccharidosis, MPS-III-C
Retinitis pigmentosa 73
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 SubmittersRCV003116994RCV003459780

NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro) SNV
Germline
Chr1:197435008 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
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 SubmittersRCV002593703RCV003464569

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 SubmittersRCV002613395RCV003475402

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 SubmittersRCV002594411RCV003465791

NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly) SNV
Germline
Chr1:197421233 Conflicting classifications of pathogenicity Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
not specified
Criteria Provided
Conflicting Classifications

3 SubmittersRCV002614384RCV003475405RCV004690310

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002671469RCV003475411

NM_152419.3(HGSNAT):c.744-2A>C SNV
Germline
Chr8:43172308 Likely pathogenic Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Single Submitter

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 SubmittersRCV002720392RCV003138334

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 SubmittersRCV002716617RCV004571222

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 SubmittersRCV002766908RCV003464595

NM_201253.3(CRB1):c.1171+1G>A SNV
Germline
Chr1:197357014 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

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 Inborn genetic diseases
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002751092RCV002751093

NM_000329.3(RPE65):c.1291T>C (p.Tyr431His) SNV
Germline
Chr1:68431329 Conflicting classifications of pathogenicity Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinal dystrophy
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002770833RCV004794594

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 SubmittersRCV002805634RCV003465833

NM_152419.3(HGSNAT):c.1228C>T (p.Leu410=) SNV
Germline
Chr8:43191573 Conflicting classifications of pathogenicity Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002805640RCV003889161

NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter) SNV
Germline
Chr1:68431117 Pathogenic Leber congenital amaurosis 2
Retinitis pigmentosa 20
Criteria Provided
Single Submitter

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
Retinal dystrophy
Criteria Provided
Single Submitter

2 SubmittersRCV002828472RCV004817124

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 SubmittersRCV002816257RCV003464606

NM_152419.3(HGSNAT):c.244C>T (p.Gln82Ter) SNV
Germline
Chr8:43158584 Pathogenic Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Single Submitter

1 SubmittersRCV002832951

NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter) SNV
Germline
Chr1:68431327 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
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 Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Criteria Provided
Single Submitter

1 SubmittersRCV002856929

NM_015662.3(IFT172):c.336+2T>G SNV
Germline
Chr2:27484225 Likely pathogenic Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Criteria Provided
Single Submitter

1 SubmittersRCV002856113

NM_000329.3(RPE65):c.1243+1G>C SNV
Germline
Chr1:68431470 Likely pathogenic Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002862290RCV004571369

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 SubmittersRCV002833622RCV003475431

NM_152419.3(HGSNAT):c.563+1G>C SNV
Germline
Chr8:43161508 Likely pathogenic Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Single Submitter

1 SubmittersRCV002838585

NM_152419.3(HGSNAT):c.969C>A (p.Cys323Ter) SNV
Germline
Chr8:43178191 Pathogenic Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Criteria Provided
Single Submitter

2 SubmittersRCV002857521RCV004817128

NM_201253.3(CRB1):c.1312T>A (p.Cys438Ser) SNV
Germline
Chr1:197421140 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

1 SubmittersRCV002858692

NM_201253.3(CRB1):c.975T>A (p.Cys325Ter) SNV
Germline
Chr1:197347466 Pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

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 SubmittersRCV002872027RCV003465854

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 SubmittersRCV002862574RCV003146645

NM_015662.3(IFT172):c.1412-1G>C SNV
Germline
Chr2:27472363 Pathogenic Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Criteria Provided
Single Submitter

1 SubmittersRCV002866935

NM_015662.3(IFT172):c.482+1G>A SNV
Germline
Chr2:27483579 Likely pathogenic Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
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 SubmittersRCV002894779RCV003465861

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 SubmittersRCV002872787RCV004571799

NM_201253.3(CRB1):c.3532A>G (p.Ile1178Val) SNV
Germline
Chr1:197435395 Conflicting classifications of pathogenicity Retinitis pigmentosa 12
Leber congenital amaurosis 8
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002908431RCV004066095

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 SubmittersRCV002908609RCV003464636

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 SubmittersRCV002885295RCV003464627

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 SubmittersRCV002917610RCV003464635RCV003889175

NM_015662.3(IFT172):c.2233C>T (p.Gln745Ter) SNV
Germline
Chr2:27461478 Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Criteria Provided
Single Submitter

1 SubmittersRCV002889930

NM_152419.3(HGSNAT):c.1614-1G>C SNV
Germline
Chr8:43197839 Likely pathogenic Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
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 SubmittersRCV002971109RCV003464643

NM_201253.3(CRB1):c.2842T>G (p.Cys948Gly) SNV
Germline
Chr1:197429614 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

1 SubmittersRCV002943326

NM_201548.5(CERKL):c.678-1G>C SNV
Germline
Chr2:181558709 Pathogenic/Likely pathogenic Retinitis pigmentosa 26
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004572482RCV002971606

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 SubmittersRCV002979370RCV003465880

NM_000350.3(ABCA4):c.302+4A>G SNV
Germline
Chr1:94111434 Conflicting classifications of pathogenicity Condition: not provided
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002979411RCV004796749

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 SubmittersRCV003030790RCV004572548

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 SubmittersRCV003019128RCV004572549

NM_001278293.3(ARL6):c.350-2A>C SNV
Germline
Chr3:97787988 Likely pathogenic Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
ARL6-related disorder
Criteria Provided
Single Submitter

2 SubmittersRCV003022773RCV004747178

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 SubmittersRCV003014437RCV003146731

NM_015662.3(IFT172):c.2521+1G>A SNV
Germline
Chr2:27461014 Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Criteria Provided
Single Submitter

1 SubmittersRCV003018642

NM_201253.3(CRB1):c.2833G>C (p.Gly945Arg) SNV
Germline
Chr1:197429605 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

1 SubmittersRCV003018726

NM_201253.3(CRB1):c.1840G>C (p.Gly614Arg) SNV
Germline
Chr1:197421668 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

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 SubmittersRCV003032078RCV003465900RCV003777039

NM_201253.3(CRB1):c.1181G>T (p.Cys394Phe) SNV
Germline
Chr1:197421009 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

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 Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
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 Condition: not provided
Retinitis pigmentosa 39
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003029090RCV003465899

NM_015662.3(IFT172):c.3111+1G>T SNV
Germline
Chr2:27457840 Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003049449RCV004725479

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 SubmittersRCV003057724RCV003459717

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 SubmittersRCV003033260RCV003459710

NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter) SNV
Germline
Chr1:68431351 Pathogenic Leber congenital amaurosis 2
Retinitis pigmentosa 20
Criteria Provided
Single Submitter

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 SubmittersRCV003056436RCV003445198

NM_152419.3(HGSNAT):c.634G>T (p.Glu212Ter) SNV
Germline
Chr8:43170585 Pathogenic Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Criteria Provided
Single Submitter

1 SubmittersRCV003044731

NM_201253.3(CRB1):c.716G>A (p.Cys239Tyr) SNV
Germline
Chr1:197344344 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

1 SubmittersRCV003050338

NM_201253.3(CRB1):c.2129-2A>C SNV
Germline
Chr1:197427452 Pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

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_020843.4(SCAPER):c.3431A>G (p.His1144Arg) SNV
Germline
Chr15:76404560 Conflicting classifications of pathogenicity Inborn genetic diseases
SCAPER-related disorder
Intellectual developmental disorder and retinitis pigmentosa
IDDRP
Retinal dystrophy
Criteria Provided
Conflicting Classifications

4 SubmittersRCV002768687RCV004754959RCV004725628RCV004818281

NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter) SNV
Germline
Chr1:215965390 Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002789978RCV003466008RCV004818284

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 SubmittersRCV003133792RCV003778716

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
Germline
Chr16:1584330 Pathogenic Retinitis pigmentosa 80
IFT140-related disorder
Criteria Provided
Single Submitter

2 SubmittersRCV003152928RCV004731512

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 Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003561246RCV003226663

NM_000329.3(RPE65):c.644-2A>G SNV
Germline
Chr1:68439644 Likely pathogenic Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003226664RCV003779809RCV003466042

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 SubmittersRCV003226694RCV003475546

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 SubmittersRCV003228863RCV003475547

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_001379270.1(CNGA1):c.1079G>A (p.Gly360Asp) SNV
Germline
Chr4:47937403 Conflicting classifications of pathogenicity Retinitis pigmentosa 49
Retinal dystrophy
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003314304RCV004794634

NM_201253.3(CRB1):c.1459T>C (p.Ser487Pro) SNV
Germline
Chr1:197421287 Likely pathogenic Retinitis pigmentosa 12
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003314447RCV004794635

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 SubmittersRCV003389621RCV003553893

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 SubmittersRCV003412947RCV003525406

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 SubmittersRCV003442367RCV003459863

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 SubmittersRCV003445395RCV003553939

NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter) SNV
Germline
ChrX:38285761 Likely pathogenic Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
X-linked cone-rod dystrophy 1
Macular degeneration, X-linked atrophic
Retinitis pigmentosa 3
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 SubmittersRCV003448533RCV003525415

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 SubmittersRCV003466501RCV003575107

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 SubmittersRCV003464811RCV003689101

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 SubmittersRCV003474210RCV003779137

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 SubmittersRCV003474216RCV003565685

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 SubmittersRCV003464827RCV003699114

NM_206933.4(USH2A):c.6657+2T>C SNV
Germline
Chr1:215998885 Likely pathogenic Retinitis pigmentosa 39
Retinal dystrophy
Criteria Provided
Single Submitter

2 SubmittersRCV003464828RCV004818350

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 SubmittersRCV003466533RCV003732598

NM_206933.4(USH2A):c.7594+1G>A SNV
Germline
Chr1:215900074 Pathogenic/Likely pathogenic Retinitis pigmentosa 39
Usher syndrome
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003464855RCV004587499

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 SubmittersRCV003464857RCV003553976

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 SubmittersRCV003468480RCV003661066

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 SubmittersRCV003468486RCV003689104

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 SubmittersRCV003475747RCV003779164

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 SubmittersRCV003475761RCV003779166

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 SubmittersRCV003460055RCV003738467

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 SubmittersRCV003468008RCV003679215

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 SubmittersRCV003468012RCV003699106

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 SubmittersRCV003468013RCV003779015

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 SubmittersRCV003468022RCV003553952

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 SubmittersRCV003460065RCV003549099

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 SubmittersRCV003468026RCV003679216

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 SubmittersRCV003460068RCV003779019

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 SubmittersRCV003468042RCV003669429

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 SubmittersRCV003468056RCV003889304

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 SubmittersRCV003460088RCV003779023

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 SubmittersRCV003460092RCV003565673

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
Germline
Chr2:61839960 Pathogenic/Likely pathogenic Retinitis pigmentosa 28
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003460122RCV004587496

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 SubmittersRCV003468090RCV003661060

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
Germline
ChrX:38322903 Conflicting classifications of pathogenicity Retinitis pigmentosa 3
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003484582RCV004721197

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 SubmittersRCV003554894RCV004574092

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 SubmittersRCV003554896RCV004574093

NM_006343.3(MERTK):c.721C>T (p.Gln241Ter) SNV
Germline
Chr2:111947531 Pathogenic/Likely pathogenic Retinitis pigmentosa 38
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004798982RCV003554956

NM_000350.3(ABCA4):c.5486T>C (p.Leu1829Pro) SNV
Germline
Chr1:94011360 Conflicting classifications of pathogenicity Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003665440RCV004796834

NM_001297.5(CNGB1):c.412+1G>T SNV
Germline
Chr16:57962841 Likely pathogenic Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003661968RCV004801375

NM_001297.5(CNGB1):c.1977G>A (p.Trp659Ter) SNV
Germline
Chr16:57917457 Pathogenic Condition: not provided
Retinitis pigmentosa 45
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003683975RCV004813235

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 SubmittersRCV003714243RCV003985631

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 SubmittersRCV003687446RCV004573151

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 SubmittersRCV003728387RCV004573263

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 SubmittersRCV003720287RCV004573258

NM_201548.5(CERKL):c.1074-2A>C SNV
Germline
Chr2:181548606 Likely pathogenic Condition: not provided
Retinitis pigmentosa 26
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003738977RCV004573282

NM_000883.4(IMPDH1):c.256A>G (p.Met86Val) SNV
Germline
Chr7:128405864 Likely pathogenic Retinitis pigmentosa 10 No Assertion Criteria Provided

1 SubmittersRCV004691608

NM_001242957.3(MAK):c.104T>A (p.Met35Lys) SNV
Germline
Chr6:10818938 Likely pathogenic Retinitis pigmentosa 62
Retinal dystrophy
No Assertion Criteria Provided

2 SubmittersRCV004691614RCV004818410

NM_000440.3(PDE6A):c.1273C>T (p.Gln425Ter) SNV
Germline
Chr5:149898497 Likely pathogenic Retinitis pigmentosa 43 No Assertion Criteria Provided

1 SubmittersRCV004691618

NM_206933.4(USH2A):c.10073G>C (p.Cys3358Ser) SNV
Germline
Chr1:215790168 Likely pathogenic Retinitis pigmentosa 39 No Assertion Criteria Provided

1 SubmittersRCV004691634

NM_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 SubmittersRCV003784104RCV003889335

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 Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

1 SubmittersRCV003797797

NM_201253.3(CRB1):c.535C>T (p.Gln179Ter) SNV
Germline
Chr1:197328886 Pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

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 Retinitis pigmentosa 12
Leber congenital amaurosis 8
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 Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

1 SubmittersRCV003780956

NM_201253.3(CRB1):c.2815T>G (p.Cys939Gly) SNV
Germline
Chr1:197429587 Pathogenic/Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003780959RCV004573304

NM_201253.3(CRB1):c.2966T>C (p.Ile989Thr) SNV
Germline
Chr1:197434829 Pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

1 SubmittersRCV003780960

NM_201253.3(CRB1):c.3687C>A (p.Cys1229Ter) SNV
Germline
Chr1:197435550 Pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
CRB1-related disorder
Criteria Provided
Single Submitter

2 SubmittersRCV003780962RCV004539124

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 Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
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 Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

1 SubmittersRCV003787130

NM_201253.3(CRB1):c.1623C>A (p.Tyr541Ter) SNV
Germline
Chr1:197421451 Pathogenic/Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003789290RCV004573312

NM_015662.3(IFT172):c.786-2A>G SNV
Germline
Chr2:27480151 Likely pathogenic Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Criteria Provided
Single Submitter

2 SubmittersRCV003792783RCV004723475

NM_201253.3(CRB1):c.2129-2A>G SNV
Germline
Chr1:197427452 Pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
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 Retinitis pigmentosa 12
Leber congenital amaurosis 8
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 Retinitis pigmentosa 12
Leber congenital amaurosis 8
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 Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
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 Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

1 SubmittersRCV003806234

NM_201253.3(CRB1):c.2687G>T (p.Cys896Phe) SNV
Germline
Chr1:197429459 Conflicting classifications of pathogenicity not specified
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004801403RCV003808255

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_001378615.1(CC2D2A):c.2923-1G>A SNV
Germline
Chr4:15560530 Pathogenic/Likely pathogenic Familial aplasia of the vermis
Meckel-Gruber syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003800059RCV004796847

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 SubmittersRCV003805986RCV004527467

NM_201253.3(CRB1):c.70+1G>C SNV
Germline
Chr1:197268483 Pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

1 SubmittersRCV003803957

NM_015662.3(IFT172):c.3712-2A>T SNV
Germline
Chr2:27453741 Likely pathogenic Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Criteria Provided
Single Submitter

1 SubmittersRCV003800585

NM_201253.3(CRB1):c.4207G>A (p.Glu1403Lys) SNV
Germline
Chr1:197477865 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
Criteria Provided
Single Submitter

1 SubmittersRCV003800612

NM_201253.3(CRB1):c.2548G>T (p.Gly850Cys) SNV
Germline
Chr1:197427873 Likely pathogenic Retinitis pigmentosa 12
Leber congenital amaurosis 8
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 Retinitis pigmentosa 12
Leber congenital amaurosis 8
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 Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Retinal dystrophy
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003795101RCV003889341

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 Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Criteria Provided
Single Submitter

1 SubmittersRCV003800281

NM_000329.3(RPE65):c.803G>A (p.Trp268Ter) SNV
Germline
Chr1:68439246 Pathogenic Retinitis pigmentosa 20
Leber congenital amaurosis 2
Criteria Provided
Single Submitter

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 Retinitis pigmentosa 12
Leber congenital amaurosis 8
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 Retinitis pigmentosa 12
Leber congenital amaurosis 8
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 Retinitis pigmentosa 12
Leber congenital amaurosis 8
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 Retinitis pigmentosa 12
Leber congenital amaurosis 8
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 Retinitis pigmentosa 12
Leber congenital amaurosis 8
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/Likely pathogenic Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003810306RCV004794660

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 SubmittersRCV003859169RCV004573368

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 SubmittersRCV003890504RCV004573414

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 Conflicting classifications of pathogenicity Retinitis pigmentosa 13
Neurodevelopmental disorder
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003993609RCV004787088

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
Germline
Chr1:215758594 Pathogenic Retinitis pigmentosa 39
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004573847RCV004775579

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
Germline
Chr2:181573751 Likely pathogenic Retinitis pigmentosa 26
Retinal dystrophy
Criteria Provided
Single Submitter

2 SubmittersRCV004575616RCV004818467

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

NM_000350.3(ABCA4):c.2744-2A>G SNV
Germline
Chr1:94047095 Likely pathogenic Retinitis pigmentosa 19
Retinal dystrophy
Criteria Provided
Single Submitter

2 SubmittersRCV004776460RCV004814111

NM_000350.3(ABCA4):c.2654-2A>C SNV
Germline
Chr1:94048959 Likely pathogenic Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Single Submitter

1 SubmittersRCV004586407

NM_205861.3(DHDDS):c.102C>A (p.Asp34Glu) SNV
Germline
Chr1:26438206 Likely pathogenic Retinitis pigmentosa 59 No Assertion Criteria Provided

1 SubmittersRCV004767646

NM_178857.6(RP1L1):c.5170C>T (p.Gln1724Ter) SNV
Germline
Chr8:10608928 Likely pathogenic Retinitis pigmentosa 88 Criteria Provided
Single Submitter

1 SubmittersRCV004691651

NM_012106.4(ARL2BP):c.294-1G>C SNV
Germline
Chr16:57250410 Pathogenic Retinitis pigmentosa with or without situs inversus No Assertion Criteria Provided

1 SubmittersRCV004698648

NM_138393.4(REEP6):c.276C>A (p.Tyr92Ter) SNV
Germline
Chr19:1495535 Likely pathogenic Retinitis pigmentosa 77 Criteria Provided
Single Submitter

1 SubmittersRCV004698763

NM_201253.3(CRB1):c.401G>T (p.Cys134Phe) SNV
Germline
Chr1:197328752 Likely pathogenic Retinitis pigmentosa 12 Criteria Provided
Single Submitter

1 SubmittersRCV004698778

NM_000350.3(ABCA4):c.2279T>C (p.Leu760Pro) SNV
Germline
Chr1:94056704 Likely pathogenic Retinitis pigmentosa 19 Criteria Provided
Single Submitter

1 SubmittersRCV004699153

NM_206933.4(USH2A):c.14969-1G>C SNV
Germline
Chr1:215639239 Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
No Assertion Criteria Provided

1 SubmittersRCV004776480

NM_206933.4(USH2A):c.14343+2T>G SNV
Germline
Chr1:215650590 Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
No Assertion Criteria Provided

1 SubmittersRCV004776481

NM_206933.4(USH2A):c.1972-1G>T SNV
Germline
Chr1:216251099 Likely pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
No Assertion Criteria Provided

1 SubmittersRCV004776482

NM_201253.3(CRB1):c.1267T>G (p.Cys423Gly) SNV
Germline
Chr1:197421095 Likely pathogenic Retinitis pigmentosa 12 Criteria Provided
Single Submitter

1 SubmittersRCV004790023

NM_000350.3(ABCA4):c.5461-6T>G SNV
Germline
Chr1:94011391 Likely pathogenic Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Criteria Provided
Single Submitter

1 SubmittersRCV004796961

NM_017739.4(POMGNT1):c.701G>A (p.Trp234Ter) SNV
Germline
Chr1:46194603 Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Criteria Provided
Single Submitter

1 SubmittersRCV004797009

NM_003322.6(TULP1):c.1592C>T (p.Ala531Val) SNV
Germline
Chr6:35498364 Likely pathogenic Retinitis pigmentosa 14
Leber congenital amaurosis 15
Criteria Provided
Single Submitter

1 SubmittersRCV004797066

NM_206933.4(USH2A):c.1144-1G>A SNV
Germline
Chr1:216324353 Pathogenic Retinitis pigmentosa 39
Usher syndrome type 2A
Criteria Provided
Single Submitter

1 SubmittersRCV004797271

NM_000350.3(ABCA4):c.1835A>C (p.Gln612Pro) SNV
Germline
Chr1:94062679 Likely pathogenic Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Criteria Provided
Single Submitter

1 SubmittersRCV004797355

NM_006269.2(RP1):c.1951C>T (p.Gln651Ter) SNV
Germline
Chr8:54625833 Likely pathogenic Retinitis pigmentosa 1 Criteria Provided
Single Submitter

1 SubmittersRCV004797375

NM_015629.4(PRPF31):c.420+1G>A SNV
Germline
Chr19:54122595 Pathogenic Retinitis pigmentosa 11 Criteria Provided
Single Submitter

1 SubmittersRCV004797417

NM_001142800.2(EYS):c.5929C>T (p.Gln1977Ter) SNV
Germline
Chr6:64388839 Pathogenic Retinitis pigmentosa 25 Criteria Provided
Single Submitter

1 SubmittersRCV004797440

NM_001034853.2(RPGR):c.2797G>T (p.Glu933Ter) SNV
Germline
ChrX:38286202 Likely pathogenic Retinitis pigmentosa 3 Criteria Provided
Single Submitter

1 SubmittersRCV004795433

NM_014714.4(IFT140):c.2577+2T>C SNV
Germline
Chr16:1526617 Likely pathogenic Retinitis pigmentosa 80 Criteria Provided
Single Submitter

1 SubmittersRCV004797670

NM_001379270.1(CNGA1):c.298G>T (p.Glu100Ter) SNV
Germline
Chr4:47943402 Pathogenic Retinitis pigmentosa Criteria Provided
Single Submitter

1 SubmittersRCV004799839

NM_201253.3(CRB1):c.2120G>T (p.Cys707Phe) SNV
Germline
Chr1:197421948 Likely pathogenic Retinitis pigmentosa Criteria Provided
Single Submitter

1 SubmittersRCV004800944

NM_201253.3(CRB1):c.2676+2T>G SNV
Unknown
Chr1:197428003 Likely pathogenic Retinitis pigmentosa Criteria Provided
Single Submitter

1 SubmittersRCV004803859

NM_014714.4(IFT140):c.2776A>T (p.Lys926Ter) SNV
Germline
Chr16:1525319 Likely pathogenic Retinitis pigmentosa 80 Criteria Provided
Single Submitter

1 SubmittersRCV004820353

NM_001367823.1(ARHGEF18):c.275+1G>T SNV
Germline
Chr19:7373072 Likely pathogenic Retinitis pigmentosa 78 Criteria Provided
Single Submitter

1 SubmittersRCV004821442