CRB1 — 2074 ClinVar variants

All ClinVar germline CRB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 800 flagged for review →

228 Pathogenic · 110 Pathogenic/Likely pathogenic · 215 Likely pathogenic · 115 Conflicting · 29 Benign · 10 Benign/Likely benign · 676 Likely benign · 691 Uncertain significance

Full CRB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 800

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 51

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CRB1 p.Arg1331Cys Pathogenic/Likely pathogenic Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Arg764Cys Pathogenic/Likely pathogenic Multiple submitters
CRB1-related maculopathy
CRB1 p.Asp1005Val Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Asp564Asn Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Cys27Phe Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
CRB1 p.Glu1403Gln Pathogenic/Likely pathogenic Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Gly1288Ser Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Gly770Ser Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Gly846Arg Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
CRB1 p.Ile1100Thr Pathogenic/Likely pathogenic Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Leu479Pro Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Met1041Val Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
CRB1 p.Pro1305Leu Pathogenic/Likely pathogenic Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Pro836Thr Pathogenic/Likely pathogenic Multiple submitters
CRB1-related disorder
CRB1 p.Ser1006Phe Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Ser1006Tyr Pathogenic/Likely pathogenic Multiple submitters
Leber congenital amaurosis
CRB1 p.Ser638Leu Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
CRB1 p.Thr745Met Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
CRB1 p.Val743Leu Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Ala521Val Likely pathogenic Single submitter
retinitis pigmentosa
CRB1 p.Ala713Val Likely pathogenic Single submitter
inherited retinal dystrophy
CRB1 p.Arg1250Lys Likely pathogenic Single submitter
Leber congenital amaurosis
CRB1 p.Asn898Lys Likely pathogenic Single submitter
retinitis pigmentosa 12
CRB1 p.Asp720Val Likely pathogenic Single submitter
Leber congenital amaurosis 8
CRB1 p.Glu710Gln Pathogenic Single submitter
Leber congenital amaurosis 8
CRB1 p.Glu710Lys Likely pathogenic Single submitter
retinitis pigmentosa 12
CRB1 p.Gly1104Asp Likely pathogenic Single submitter
retinitis pigmentosa
CRB1 p.Gly333Ala Pathogenic Single submitter
Leber congenital amaurosis 8
CRB1 p.Gly615Ser Likely pathogenic Single submitter
Leber congenital amaurosis 1
CRB1 p.Gly750Ser Likely pathogenic Single submitter
retinitis pigmentosa 12
CRB1 p.Gly791Arg Pathogenic Single submitter
retinitis pigmentosa 12
CRB1 p.Gly846Glu Likely pathogenic Single submitter
retinitis pigmentosa 12
CRB1 p.Gly899Ala Pathogenic Single submitter
retinitis pigmentosa 12
CRB1 p.Gly899Arg Likely pathogenic Single submitter
Leber congenital amaurosis 8
CRB1 p.Lys534Glu Likely pathogenic Single submitter
Leber congenital amaurosis 8
CRB1 p.Pro1305Ala Likely pathogenic Single submitter
retinitis pigmentosa 12
CRB1 p.Pro1305Arg Likely pathogenic Single submitter
retinitis pigmentosa 12
CRB1 p.Ser539Arg Pathogenic Single submitter
Leber congenital amaurosis
CRB1 p.Val901Phe Likely pathogenic Single submitter
retinitis pigmentosa 12
CRB1 p.Arg1331Gly Likely pathogenic No assertion criteria
retinitis pigmentosa
CRB1 p.Asn880Asp Likely pathogenic No assertion criteria
Leber congenital amaurosis 8
CRB1 p.Asp1335Tyr Likely pathogenic No assertion criteria
Leber congenital amaurosis 8
CRB1 p.Cys27Ser Pathogenic No assertion criteria
Autosomal recessive retinitis pigmentosa
CRB1 p.Gly723Asp Likely pathogenic No assertion criteria
inherited retinal dystrophy
CRB1 p.Ile558Thr Likely pathogenic No assertion criteria
retinitis pigmentosa
CRB1 p.Leu369Pro Likely pathogenic No assertion criteria
pigmented paravenous retinochoroidal atrophy
CRB1 p.Leu862Arg Likely pathogenic No assertion criteria
Leber congenital amaurosis 8
CRB1 p.Lys673Glu Likely pathogenic No assertion criteria
retinitis pigmentosa
CRB1 p.Phe847Ser Likely pathogenic No assertion criteria
Leber congenital amaurosis 8
CRB1 p.Pro519Gln Likely pathogenic No assertion criteria
retinitis pigmentosa
CRB1 p.Val1055Glu Likely pathogenic No assertion criteria
Leber congenital amaurosis 8

Predictors agree, ClinVar conflicts 58

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CRB1 p.Ala1354Asp Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Ala161Thr Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Ala595Thr Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Ala937Thr Conflicting Single submitter
inherited retinal dystrophy
CRB1 p.Arg1383His Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Arg33Ser Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Arg365His Conflicting Single submitter
Inborn genetic diseases
CRB1 p.Arg905Gln Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Asn880Ser Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Asn894Ser Conflicting Single submitter
hereditary macular dystrophy
CRB1 p.Cys1154Tyr Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Cys1218Gly Conflicting Single submitter
Leber congenital amaurosis
CRB1 p.Cys1218Ser Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys1285Gly Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Cys1312Trp Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Cys136Tyr Conflicting Single submitter
Leber congenital amaurosis
CRB1 p.Cys172Phe Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Cys183Arg Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys212Tyr Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys383Arg Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys394Tyr Conflicting Single submitter
inherited retinal dystrophy
CRB1 p.Cys438Tyr Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Cys469Gly Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Cys587Tyr Conflicting Single submitter
inherited retinal dystrophy
CRB1 p.Cys896Phe Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys896Tyr Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Cys928Tyr Conflicting Single submitter
retinitis pigmentosa
CRB1 p.Cys933Tyr Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys939Tyr Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Gln349Leu Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Gly454Arg Conflicting Single submitter
pigmented paravenous retinochoroidal atrophy
CRB1 p.Gly641Ala Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Gly833Cys Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.His1232Arg Conflicting Single submitter
pigmented paravenous retinochoroidal atrophy
CRB1 p.Ile1100Arg Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Ile1178Val Conflicting Single submitter
Inborn genetic diseases
CRB1 p.Ile1344Val Conflicting Single submitter
Inborn genetic diseases
CRB1 p.Ile366Leu Conflicting Single submitter
Inborn genetic diseases
CRB1 p.Ile546Val Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Ile737Val Conflicting Single submitter
inherited retinal dystrophy
CRB1 p.Leu1021Pro Conflicting Single submitter
retinitis pigmentosa
CRB1 p.Leu753Pro Conflicting Single submitter
inherited retinal dystrophy
CRB1 p.Leu767Pro Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Leu916Phe Conflicting Single submitter
Inborn genetic diseases
CRB1 p.Lys673Arg Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Phe1125Leu Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Phe1319Tyr Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Phe488Ser Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Pro637Leu Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Pro89Ser Conflicting Single submitter
pigmented paravenous retinochoroidal atrophy
CRB1 p.Ser545Pro Conflicting Single submitter
Leber congenital amaurosis 1
CRB1 p.Ser797Pro Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Thr431Ile Conflicting Single submitter
Inborn genetic diseases
CRB1 p.Thr821Met Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Val1029Glu Conflicting Single submitter
Leber congenital amaurosis
CRB1 p.Val398Ile Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Val578Glu Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys336Arg Conflicting No assertion criteria
inherited retinal dystrophy

Predictors lean, ClinVar uncertain 367

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 367

CRB1 p.Ala1354Thr Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Arg1286Gln Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Asn1270Ser Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Asn610Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Asp1156Asn Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Asp1179Asn Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Asp1338Glu Uncertain significance Multiple submitters
inherited retinal dystrophy
CRB1 p.Asp150Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Asp193Gly Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Asp491Asn Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Asp585Glu Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Asp649Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Cys119Gly Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Cys1283Tyr Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Cys1332Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Cys210Phe Uncertain significance Multiple submitters
inherited retinal dystrophy
CRB1 p.Cys212Phe Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Cys266Ser Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Cys288Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Cys288Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Cys305Ser Uncertain significance Multiple submitters
inherited retinal dystrophy
CRB1 p.Cys348Arg Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Cys698Arg Uncertain significance Multiple submitters
inherited retinal dystrophy
CRB1 p.Gln1384Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Gln362His Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Gln679Glu Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Glu489Lys Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Glu995Lys Uncertain significance Multiple submitters
pigmented paravenous retinochoroidal atrophy
CRB1 p.Gly1136Ser Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Gly1388Asp Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Gly936Arg Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Gly959Ser Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Leu999Phe Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Lys1386Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Met1284Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Met1402Thr Uncertain significance Multiple submitters
pigmented paravenous retinochoroidal atrophy
CRB1 p.Pro637Ser Uncertain significance Multiple submitters
inherited retinal dystrophy
CRB1 p.Pro777Leu Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Pro941Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Ser113Phe Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Ser527Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Thr1068Ala Uncertain significance Multiple submitters
pigmented paravenous retinochoroidal atrophy
CRB1 p.Thr1369Asn Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Thr484Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Thr503Ala Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Thr88Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Trp567Arg Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Tyr762His Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Val1391Leu Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Val578Leu Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Ala1086Ser Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Ala1086Val Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Ala1197Gly Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Ala1328Asp Uncertain significance Single submitter
CRB1 p.Ala1337Thr Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Ala1374Val Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Ala138Asp Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Ala1401Glu Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Ala1401Val Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Ala2Thr Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Ala334Thr Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Ala483Pro Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Ala521Ser Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Ala577Thr Uncertain significance Single submitter
inherited retinal dystrophy
CRB1 p.Ala595Ser Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Ala60Thr Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Ala668Val Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Ala773Thr Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Ala872Thr Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Ala921Val Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Ala950Val Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Arg1050Lys Uncertain significance Single submitter
pigmented paravenous retinochoroidal atrophy
CRB1 p.Arg1373Ser Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Arg33Gly Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Arg33Lys Uncertain significance Single submitter
retinitis pigmentosa
CRB1 p.Arg365Ser Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Arg526Gln Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Arg684Lys Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Arg856Lys Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Arg92Ser Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Asn30Thr Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Asn31Thr Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Asn322Ser Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Asn344His Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asn399Ser Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asn549Lys Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Asn5Ser Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asn629Asp Uncertain significance Single submitter
CRB1 p.Asn689Ser Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asn778Lys Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asn858Ser Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asn861Thr Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asn871Ser Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asn955His Uncertain significance Single submitter
pigmented paravenous retinochoroidal atrophy
CRB1 p.Asp1005Gly Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Asp1084Asn Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asp1343Asn Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Asp193Glu Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asp249Asn Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asp426Glu Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asp440Val Uncertain significance Single submitter
inherited retinal dystrophy
CRB1 p.Asp585Ala Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Asp645Tyr Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asp64His Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Asp720Asn Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asp720Gly Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asp854His Uncertain significance Single submitter
CRB1 p.Asp854Tyr Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asp984Ala Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asp984Asn Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Cys107Phe Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys1143Arg Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys1163Tyr Uncertain significance Single submitter
CRB1 p.Cys1174Gly Uncertain significance Single submitter
CRB1 p.Cys1174Tyr Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys1181Tyr Uncertain significance Single submitter
CRB1 p.Cys1211Ser Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys1218Trp Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Cys1294Arg Uncertain significance Single submitter
inherited retinal dystrophy
CRB1 p.Cys1294Phe Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys1301Arg Uncertain significance Single submitter
CRB1 p.Cys1306Tyr Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys136Phe Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys145Ser Uncertain significance Single submitter
inherited retinal dystrophy
CRB1 p.Cys157Tyr Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys163Gly Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys174Ser Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys190Tyr Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys210Tyr Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys212Ser Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys228Arg Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Cys228Tyr Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys233Arg Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys233Tyr Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys259Arg Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys259Tyr Uncertain significance Single submitter
CRB1 p.Cys277Tyr Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys288Ser Uncertain significance Single submitter
CRB1 p.Cys298Arg Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys298Ser Uncertain significance Single submitter
CRB1 p.Cys316Trp Uncertain significance Single submitter
retinitis pigmentosa
CRB1 p.Cys327Phe Uncertain significance Single submitter
CRB1 p.Cys343Arg Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys354Tyr Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys412Phe Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys423Tyr Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys438Gly Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys445Tyr Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Cys606Tyr Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Cys681Trp Uncertain significance Single submitter
retinitis pigmentosa 12

Predictors split 324

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 324

CRB1 p.Arg1286Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Arg1331His Benign/Likely benign Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Arg1383Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Arg365Cys Uncertain significance Multiple submitters
inherited retinal dystrophy
CRB1 p.Arg744Gln Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Arg905Trp Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Asn117Lys Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Asn1243His Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Asn1317His Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Asn341Lys Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Asn418Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Asp257Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Asp339Asn Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Asp564Tyr Pathogenic/Likely pathogenic Multiple submitters
pigmented paravenous retinochoroidal atrophy
CRB1 p.Cys45Trp Uncertain significance Multiple submitters
inherited retinal dystrophy
CRB1 p.Gln938Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Glu1180Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Glu1403Asp Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Glu227Lys Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Glu571Ala Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Glu710Gly Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Glu710Val Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Glu806Gln Uncertain significance Multiple submitters
inherited retinal dystrophy
CRB1 p.Glu947Lys Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Gly1103Arg Pathogenic Multiple submitters
inherited retinal dystrophy
CRB1 p.Gly160Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Gly253Arg Uncertain significance Multiple submitters
inherited retinal dystrophy
CRB1 p.Gly333Arg Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Gly615Val Pathogenic/Likely pathogenic Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Gly685Ala Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Gly827Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.His1035Tyr Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.His1188Gln Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.His326Tyr Uncertain significance Multiple submitters
inherited retinal dystrophy
CRB1 p.Ile1003Phe Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Ile124Asn Uncertain significance Multiple submitters
retinitis pigmentosa
CRB1 p.Ile22Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Ile830Phe Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Leu1071Phe Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Leu1107Pro Pathogenic/Likely pathogenic Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Met1041Thr Pathogenic Multiple submitters
CRB1-related disorder
CRB1 p.Met741Thr Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Pro1381Leu Pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Pro895Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Ser1014Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Ser1025Asn Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Ser1046Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Ser402Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Ser43Pro Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Ser611Pro Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Ser732Thr Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Ser890Gly Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Ser904Cys Uncertain significance Multiple submitters
inherited retinal dystrophy
CRB1 p.Ser918Cys Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Thr1068Asn Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Thr1228Asn Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Thr1275Arg Uncertain significance Multiple submitters
CRB1-related disorder
CRB1 p.Thr238Asn Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Thr289Met Likely benign Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Thr476Ala Uncertain significance Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Trp1034Arg Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Tyr1106Cys Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Tyr541Cys Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Tyr702Cys Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 12
CRB1 p.Tyr724Cys Pathogenic/Likely pathogenic Multiple submitters
Leber congenital amaurosis 8
CRB1 p.Val1209Met Uncertain significance Multiple submitters
Inborn genetic diseases
CRB1 p.Val570Met Uncertain significance Multiple submitters
retinitis pigmentosa 12
CRB1 p.Val879Ala Uncertain significance Multiple submitters
pigmented paravenous retinochoroidal atrophy
CRB1 p.Ala1227Thr Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Ala593Gly Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Ala593Thr Uncertain significance Single submitter
CRB1 p.Ala595Pro Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Ala713Thr Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Ala937Pro Pathogenic Single submitter
Leber congenital amaurosis
CRB1 p.Arg1050Trp Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Arg1383Cys Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Arg1383Gly Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Arg1390Gln Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Arg1390Pro Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Arg365Pro Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Arg513Met Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Arg686Cys Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Arg686His Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Arg764His Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Arg769Cys Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Arg769Pro Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Arg771Gly Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Arg856Ser Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asn1243Lys Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Asn1308Ser Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asn312Lys Uncertain significance Single submitter
CRB1 p.Asn322Asp Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asn880Lys Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Asn986Ile Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Asn986Tyr Uncertain significance Single submitter
inherited retinal dystrophy
CRB1 p.Asp1031Asn Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Asp1056His Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Asp1056Tyr Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Asp1216Gly Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asp165Glu Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Asp165Val Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Asp168Tyr Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Asp184Asn Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asp184Gly Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asp226Ala Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Asp318His Uncertain significance Single submitter
CRB1 p.Asp47Gly Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Asp491Val Conflicting Single submitter
CRB1-related maculopathy
CRB1 p.Asp72Glu Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Cys54Phe Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Cys67Ser Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Gln1013Pro Uncertain significance Single submitter
CRB1 p.Gln127Arg Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Gln1313Glu Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Gln547Pro Uncertain significance Single submitter
inherited retinal dystrophy
CRB1 p.Gln679Pro Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Gln80Glu Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Glu1058Gly Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Glu1280Asp Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Glu1333Lys Conflicting Single submitter
inherited retinal dystrophy
CRB1 p.Glu1385Gln Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Glu1403Lys Likely pathogenic Single submitter
retinitis pigmentosa 12
CRB1 p.Glu198Lys Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Glu222Lys Conflicting Single submitter
pigmented paravenous retinochoroidal atrophy
CRB1 p.Glu337Gly Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Glu342Asp Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Glu395Lys Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Glu768Gly Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Gly1083Arg Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Gly1092Asp Uncertain significance Single submitter
CRB1 p.Gly1115Cys Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Gly1151Arg Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Gly1205Arg Uncertain significance Single submitter
Leber congenital amaurosis
CRB1 p.Gly1288Asp Conflicting Single submitter
retinitis pigmentosa 12
CRB1 p.Gly1291Arg Uncertain significance Single submitter
CRB1 p.Gly1310Ala Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Gly1310Cys Uncertain significance Single submitter
Leber congenital amaurosis
CRB1 p.Gly1310Ser Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Gly1377Glu Conflicting Single submitter
Leber congenital amaurosis 8
CRB1 p.Gly1388Val Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Gly139Val Uncertain significance Single submitter
Leber congenital amaurosis 8
CRB1 p.Gly160Glu Uncertain significance Single submitter
Leber congenital amaurosis
CRB1 p.Gly206Arg Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Gly206Glu Uncertain significance Single submitter
Inborn genetic diseases
CRB1 p.Gly236Asp Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Gly275Arg Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Gly280Glu Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Gly292Val Uncertain significance Single submitter
retinitis pigmentosa 12
CRB1 p.Gly333Asp Pathogenic Single submitter
retinitis pigmentosa 12
CRB1 p.Gly409Ser Uncertain significance Single submitter
inherited retinal dystrophy

All CRB1 variants

Pathogenic 228

c.2129-1G>C Multiple submitters Leber congenital amaurosis
c.2129-2A>G Multiple submitters pigmented paravenous retinochoroidal atrophy
c.2842+1delinsAA Multiple submitters retinitis pigmentosa 12
c.4005+1G>A Multiple submitters Leber congenital amaurosis 8
c.4005+2T>G Multiple submitters Leber congenital amaurosis 8
c.4006-1G>T Multiple submitters retinitis pigmentosa 12
c.848+1G>A Multiple submitters retinitis pigmentosa 12
p.Ala1374fs Multiple submitters retinitis pigmentosa 12
p.Asn87Ter Multiple submitters Leber congenital amaurosis 8
p.Asp47fs Multiple submitters Leber congenital amaurosis 8
p.Cys1154_Glu1155delinsTer Multiple submitters Leber congenital amaurosis 1
p.Cys1240fs Multiple submitters retinitis pigmentosa 12
p.Cys1332Ter Multiple submitters retinitis pigmentosa 12
p.Cys174Ter Multiple submitters Leber congenital amaurosis 8
p.Cys394Arg Multiple submitters retinitis pigmentosa 12
p.Cys394Ter Multiple submitters CRB1-related disorder
p.Cys591fs Multiple submitters inherited retinal dystrophy
p.Cys896Ter Multiple submitters Macular dystrophy
p.Cys948Arg Multiple submitters inherited retinal dystrophy
p.Cys948Tyr Multiple submitters CRB1-related disorder
p.Glu1330Ter Multiple submitters retinitis pigmentosa 12
p.Glu806Ter Multiple submitters inherited retinal dystrophy
p.Gly1103Arg Multiple submitters inherited retinal dystrophy ⚠
p.Gly1115fs Multiple submitters Leber congenital amaurosis 8
p.Gly1226Ter Multiple submitters pigmented paravenous retinochoroidal atrophy
p.Gly845fs Multiple submitters retinitis pigmentosa 12
p.Gly846Ter Multiple submitters inherited retinal dystrophy
p.Gly850Ser Multiple submitters Leber congenital amaurosis
p.Ile205fs Multiple submitters inherited retinal dystrophy
p.Leu1045fs Multiple submitters retinitis pigmentosa 12
p.Leu538fs Multiple submitters retinitis pigmentosa 12
p.Leu755fs Multiple submitters Leber congenital amaurosis 8
p.Lys801Ter Multiple submitters inherited retinal dystrophy
p.Met1041Thr Multiple submitters CRB1-related disorder ⚠
p.Phe493fs Multiple submitters Leber congenital amaurosis 8
p.Pro1381Leu Multiple submitters retinitis pigmentosa 12 ⚠
p.Ser1049fs Multiple submitters Leber congenital amaurosis 8
p.Ser403Ter Multiple submitters Leber congenital amaurosis 8
p.Ser478fs Multiple submitters Macular dystrophy
p.Thr44_Cys45insTer Multiple submitters Leber congenital amaurosis 8
p.Tyr375Ter Multiple submitters retinitis pigmentosa 12
p.Tyr724Ter Multiple submitters Leber congenital amaurosis 8
p.Val554fs Multiple submitters pigmented paravenous retinochoroidal atrophy
p.Val666Asp Multiple submitters Leber congenital amaurosis 8
c.1171+2T>G Single submitter retinitis pigmentosa
c.2129-1G>T Single submitter retinitis pigmentosa 12
c.2129-2A>C Single submitter retinitis pigmentosa 12
c.2842+2T>A Single submitter inherited retinal dystrophy
c.3395_3879-490del Single submitter Leber congenital amaurosis 8
c.3750-1G>A Single submitter retinitis pigmentosa 12
c.4005+1_4005+10del Single submitter Leber congenital amaurosis
c.4005+1G>C Single submitter retinitis pigmentosa 12
c.4005+2T>C Single submitter retinitis pigmentosa 12
c.4006-1G>A Single submitter retinitis pigmentosa 12
c.70+1G>A Single submitter Leber congenital amaurosis 8
c.70+1G>C Single submitter Leber congenital amaurosis 8
c.988+1G>A Single submitter inherited retinal dystrophy
c.988+1G>T Single submitter Leber congenital amaurosis 8
p.Ala161fs Single submitter Leber congenital amaurosis 8
p.Ala245fs Single submitter retinitis pigmentosa 12
p.Ala267fs Single submitter retinitis pigmentosa 12
p.Ala2fs Single submitter retinitis pigmentosa 12
p.Ala595fs Single submitter retinitis pigmentosa 12
p.Ala937Pro Single submitter Leber congenital amaurosis ⚠
p.Arg1390fs Single submitter retinitis pigmentosa 12
p.Arg744fs Single submitter retinitis pigmentosa 12
p.Arg92fs Single submitter Leber congenital amaurosis 8
p.Arg981fs Single submitter retinitis pigmentosa 12
p.Asn1317fs Single submitter retinitis pigmentosa 12
p.Asn24fs Single submitter retinitis pigmentosa 12
p.Asn550fs Single submitter Leber congenital amaurosis 8
p.Asn858fs Single submitter retinitis pigmentosa 12
p.Asn861fs Single submitter retinitis pigmentosa 12
p.Asn986fs Single submitter retinitis pigmentosa 12
p.Asp257fs Single submitter retinitis pigmentosa 12
p.Asp321fs Single submitter retinitis pigmentosa 12
p.Cys1096Ter Single submitter Leber congenital amaurosis 8
p.Cys1154Ser Single submitter retinitis pigmentosa 12
p.Cys1165Ter Single submitter retinitis pigmentosa 12
p.Cys1181fs Single submitter retinitis pigmentosa 12
p.Cys119fs Single submitter retinitis pigmentosa 12
p.Cys1223fs Single submitter Leber congenital amaurosis 8
p.Cys1229Ter Single submitter retinitis pigmentosa 12
p.Cys1274Ter Single submitter Leber congenital amaurosis 8
p.Cys1312Ser Single submitter retinitis pigmentosa
p.Cys190Ter Single submitter retinitis pigmentosa 12
p.Cys233Ter Single submitter pigmented paravenous retinochoroidal atrophy
p.Cys239Phe Single submitter Leber congenital amaurosis 8
p.Cys248fs Single submitter Leber congenital amaurosis 8
p.Cys250Ter Single submitter retinitis pigmentosa 12
p.Cys325Ter Single submitter retinitis pigmentosa 12
p.Cys348fs Single submitter Leber congenital amaurosis 8
p.Cys39Ter Single submitter retinitis pigmentosa 12
p.Cys412Ter Single submitter Leber congenital amaurosis 8
p.Cys445fs Single submitter retinitis pigmentosa 12
p.Cys508Arg Single submitter retinitis pigmentosa 12
p.Cys707fs Single submitter
p.Cys74Ter Single submitter retinitis pigmentosa 12
p.Cys891Ter Single submitter Leber congenital amaurosis 8
p.Gln1004_Asp1005delinsHisPhe Single submitter retinitis pigmentosa 12
p.Gln1121Ter Single submitter retinitis pigmentosa 12
p.Gln127Ter Single submitter Leber congenital amaurosis 8
p.Gln164Ter Single submitter retinitis pigmentosa 12
p.Gln179Ter Single submitter retinitis pigmentosa 12
p.Gln231Ter Single submitter retinitis pigmentosa 12
p.Gln240Ter Single submitter retinitis pigmentosa 12
p.Gln269Ter Single submitter retinitis pigmentosa 12
p.Gln448Ter Single submitter Leber congenital amaurosis 8
p.Gln449Ter Single submitter inherited retinal dystrophy
p.Gln695Ter Single submitter Leber congenital amaurosis 8
p.Gln860fs Single submitter retinitis pigmentosa 12
p.Gln883fs Single submitter retinitis pigmentosa 12
p.Gln938Ter Single submitter inherited retinal dystrophy
p.Gln940Ter Single submitter retinitis pigmentosa 12
p.Gln957Ter Single submitter retinitis pigmentosa 12
p.Glu1111Ter Single submitter Leber congenital amaurosis 8
p.Glu1180Ter Single submitter Leber congenital amaurosis 8
p.Glu1280fs Single submitter Leber congenital amaurosis 8
p.Glu1300Ter Single submitter retinitis pigmentosa 12
p.Glu1392fs Single submitter retinitis pigmentosa 12
p.Glu353Ter Single submitter retinitis pigmentosa 12
p.Glu360fs Single submitter retinitis pigmentosa 12
p.Glu489Ter Single submitter Leber congenital amaurosis 8
p.Glu566fs Single submitter Leber congenital amaurosis 8
p.Glu710Gln Single submitter Leber congenital amaurosis 8 ⚠
p.Glu863Ter Single submitter retinitis pigmentosa 12
p.Glu923Ter Single submitter retinitis pigmentosa 12
p.Gly123Cys Single submitter Leber congenital amaurosis 8
p.Gly142fs Single submitter retinitis pigmentosa 12
p.Gly333Ala Single submitter Leber congenital amaurosis 8 ⚠
p.Gly333Asp Single submitter retinitis pigmentosa 12 ⚠
p.Gly619fs Single submitter Leber congenital amaurosis 8
p.Gly717fs Single submitter retinitis pigmentosa 12
p.Gly791Arg Single submitter retinitis pigmentosa 12 ⚠
p.Gly899Ala Single submitter retinitis pigmentosa 12 ⚠
p.His1221fs Single submitter retinitis pigmentosa 12
p.His447fs Single submitter retinitis pigmentosa 12
p.Ile1128fs Single submitter
p.Ile211fs Single submitter Leber congenital amaurosis 8
p.Ile605fs Single submitter retinitis pigmentosa 12
p.Ile969fs Single submitter retinitis pigmentosa 12
p.Ile989Thr Single submitter retinitis pigmentosa 12 ⚠
p.Leu1008Ter Single submitter Leber congenital amaurosis 8
p.Leu1039fs Single submitter Leber congenital amaurosis 8
p.Leu1107Arg Single submitter Leber congenital amaurosis 8
p.Leu1254fs Single submitter Leber congenital amaurosis 8
p.Leu1316fs Single submitter Leber congenital amaurosis 8
p.Leu19fs Single submitter retinitis pigmentosa
p.Leu223fs Single submitter retinitis pigmentosa 12
p.Leu524fs Single submitter Leber congenital amaurosis 8
p.Leu524Pro Single submitter retinitis pigmentosa 12
p.Leu755delinsPheTer Single submitter retinitis pigmentosa 12
p.Leu798Ter Single submitter Leber congenital amaurosis 8
p.Leu843_Pro866del Single submitter retinitis pigmentosa 12
p.Leu878fs Single submitter Leber congenital amaurosis 8
p.Leu962Ter Single submitter Leber congenital amaurosis 8
p.Leu990fs Single submitter retinitis pigmentosa 12
p.Lys1263Ter Single submitter retinitis pigmentosa 12
p.Lys1296fs Single submitter retinitis pigmentosa 12
p.Lys1318Ter Single submitter retinitis pigmentosa 12
p.Lys196Ter Single submitter Leber congenital amaurosis 8
p.Lys65fs Single submitter Leber congenital amaurosis 8
p.Lys785fs Single submitter Leber congenital amaurosis 8
p.Lys994fs Single submitter Leber congenital amaurosis 8
p.Met1020fs Single submitter Leber congenital amaurosis 8
p.Met633fs Single submitter retinitis pigmentosa 12
p.Phe1110Cys Single submitter retinitis pigmentosa 12 ⚠
p.Phe848fs Single submitter retinitis pigmentosa 12
p.Phe94fs Single submitter Leber congenital amaurosis 1
p.Pro1287fs Single submitter retinitis pigmentosa 12
p.Pro137fs Single submitter Leber congenital amaurosis 8
p.Pro1381_Ser1382del Single submitter retinitis pigmentosa 12
p.Pro1381Thr Single submitter Macular dystrophy ⚠
p.Pro1400fs Single submitter Leber congenital amaurosis 8
p.Pro329fs Single submitter Leber congenital amaurosis 8
p.Pro89fs Single submitter inherited retinal dystrophy
p.Ser1022delinsLysSerLeuAsnPheLeuIleLeuAlaPheLysIleProAspTyrSerPheAsnCysLysValAlaThrAlaPheIleCysTer Single submitter retinitis pigmentosa 12
p.Ser1098fs Single submitter Leber congenital amaurosis 8
p.Ser1237fs Single submitter Leber congenital amaurosis 8
p.Ser268fs Single submitter retinitis pigmentosa
p.Ser307Ter Single submitter Leber congenital amaurosis 8
p.Ser36Ter Single submitter Leber congenital amaurosis 8
p.Ser487fs Single submitter retinitis pigmentosa
p.Ser49fs Single submitter inherited retinal dystrophy
p.Ser539Arg Single submitter Leber congenital amaurosis ⚠
p.Ser659fs Single submitter retinitis pigmentosa 12
p.Ser732fs Single submitter Leber congenital amaurosis 8
p.Thr1048fs Single submitter retinitis pigmentosa 12
p.Trp1034Ter Single submitter retinitis pigmentosa 12
p.Trp1051Ter Single submitter retinitis pigmentosa 12
p.Trp1169fs Single submitter Leber congenital amaurosis 8
p.Trp229Ter Single submitter retinitis pigmentosa
p.Trp495fs Single submitter retinitis pigmentosa
p.Trp567Ter Single submitter retinitis pigmentosa 12
p.Trp650Ter Single submitter Leber congenital amaurosis 8
p.Trp675Ter Single submitter Leber congenital amaurosis 8
p.Trp691Ter Single submitter Leber congenital amaurosis 8
p.Trp822Ter Single submitter retinitis pigmentosa 12
p.Tyr1109fs Single submitter retinitis pigmentosa 12
p.Tyr1379Ter Single submitter retinitis pigmentosa 12
p.Tyr178fs Single submitter Leber congenital amaurosis 8
p.Tyr21Ter Single submitter
p.Tyr284Ter Single submitter retinitis pigmentosa 12
p.Tyr694Ter Single submitter retinitis pigmentosa 12
p.Tyr711fs Single submitter retinitis pigmentosa 12
p.Tyr711Ter Single submitter Leber congenital amaurosis
p.Tyr724fs Single submitter retinitis pigmentosa 12
p.Val1209fs Single submitter Leber congenital amaurosis
p.Val320fs Single submitter Leber congenital amaurosis
p.Val765fs Single submitter retinitis pigmentosa 12
c.2185_2186insAluY2174_2185dup No assertion criteria retinitis pigmentosa 12
p.Ala952fs No assertion criteria Leber congenital amaurosis 8
p.Arg1007Ter No assertion criteria inherited retinal dystrophy
p.Asn657fs No assertion criteria Leber congenital amaurosis 8
p.Asn894fs No assertion criteria Leber congenital amaurosis
p.Cys1137fs No assertion criteria Leber congenital amaurosis 8
p.Cys1321Ter No assertion criteria inherited retinal dystrophy
p.Cys27Ser No assertion criteria Autosomal recessive retinitis pigmentosa ⚠
p.Cys606Ter No assertion criteria Leber congenital amaurosis 8
p.Gln1222_Cys1223insTer No assertion criteria Leber congenital amaurosis 8
p.Glu995Ter No assertion criteria retinitis pigmentosa 12
p.Gly142Ter No assertion criteria retinitis pigmentosa
p.Gly206Ter No assertion criteria inherited retinal dystrophy
p.Gly827Ter No assertion criteria Leber congenital amaurosis 8
p.Leu1405fs No assertion criteria Leber congenital amaurosis 8
p.Phe1116fs No assertion criteria Leber congenital amaurosis 8
p.Pro748fs No assertion criteria Leber congenital amaurosis 8
p.Ser635fs No assertion criteria inherited retinal dystrophy

Pathogenic/Likely pathogenic 110

c.2128+1G>C Multiple submitters retinitis pigmentosa 12
c.2129-1G>A Multiple submitters retinitis pigmentosa 12
c.2676+1G>T Multiple submitters inherited retinal dystrophy
c.2842+5G>A Multiple submitters Leber congenital amaurosis 8
c.652+1G>A Multiple submitters pigmented paravenous retinochoroidal atrophy
c.652+3_652+6del Multiple submitters retinitis pigmentosa 12
c.653-1G>A Multiple submitters retinitis pigmentosa 12
c.653-1G>T Multiple submitters Leber congenital amaurosis
p.Arg1331Cys Multiple submitters Leber congenital amaurosis 8 ⚠
p.Arg1390Ter Multiple submitters retinitis pigmentosa 12
p.Arg526Ter Multiple submitters inherited retinal dystrophy
p.Arg744Ter Multiple submitters pigmented paravenous retinochoroidal atrophy
p.Arg764Cys Multiple submitters CRB1-related maculopathy ⚠
p.Asn7fs Multiple submitters retinitis pigmentosa 12
p.Asp1005Val Multiple submitters retinitis pigmentosa 12 ⚠
p.Asp1299fs Multiple submitters retinitis pigmentosa 12
p.Asp148fs Multiple submitters retinitis pigmentosa 12
p.Asp564Tyr Multiple submitters pigmented paravenous retinochoroidal atrophy ⚠
p.Cys1143fs Multiple submitters retinitis pigmentosa 12
p.Cys1143Ter Multiple submitters retinitis pigmentosa 12
p.Cys1148Arg Multiple submitters inherited retinal dystrophy
p.Cys1148fs Multiple submitters retinitis pigmentosa 12
p.Cys1163Phe Multiple submitters Leber congenital amaurosis 8
p.Cys1211fs Multiple submitters retinitis pigmentosa 12
p.Cys1218Phe Multiple submitters retinitis pigmentosa 12
p.Cys1218Tyr Multiple submitters inherited retinal dystrophy
p.Cys1229Ser Multiple submitters Leber congenital amaurosis 8
p.Cys1294Tyr Multiple submitters retinitis pigmentosa 12
p.Cys152Tyr Multiple submitters retinitis pigmentosa 12
p.Cys183Ter Multiple submitters retinitis pigmentosa 12
p.Cys195Phe Multiple submitters Macular dystrophy
p.Cys221_Glu222delinsTer Multiple submitters retinitis pigmentosa 12
p.Cys27Phe Multiple submitters inherited retinal dystrophy ⚠
p.Cys383Tyr Multiple submitters inherited retinal dystrophy
p.Cys450Tyr Multiple submitters retinitis pigmentosa 12
p.Cys480Arg Multiple submitters inherited retinal dystrophy
p.Cys480Ser Multiple submitters retinitis pigmentosa 12
p.Cys681Tyr Multiple submitters inherited retinal dystrophy
p.Cys696Arg Multiple submitters retinitis pigmentosa 12
p.Cys939Gly Multiple submitters Leber congenital amaurosis 8
p.Gln1013Ter Multiple submitters retinitis pigmentosa 12
p.Gln120Ter Multiple submitters Leber congenital amaurosis 8
p.Gln1320Ter Multiple submitters retinitis pigmentosa 12
p.Gln335Ter Multiple submitters Leber congenital amaurosis 8
p.Gln362Ter Multiple submitters retinitis pigmentosa 12
p.Gln461Ter Multiple submitters retinitis pigmentosa 12
p.Gln551_Ser552insTer Multiple submitters retinitis pigmentosa 12
p.Gln551Ter Multiple submitters retinitis pigmentosa 12
p.Gln809Ter Multiple submitters retinitis pigmentosa 12
p.Glu1058Ter Multiple submitters Leber congenital amaurosis
p.Glu1276fs Multiple submitters Leber congenital amaurosis
p.Glu1330fs Multiple submitters inherited retinal dystrophy
p.Glu1403Gln Multiple submitters Leber congenital amaurosis 8 ⚠
p.Glu189Ter Multiple submitters retinitis pigmentosa 12
p.Glu395Ter Multiple submitters retinitis pigmentosa 12
p.Glu710Val Multiple submitters retinitis pigmentosa 12 ⚠
p.Glu972Ter Multiple submitters Leber congenital amaurosis
p.Gly1151Ter Multiple submitters retinitis pigmentosa 12
p.Gly1288Ser Multiple submitters retinitis pigmentosa 12 ⚠
p.Gly169fs Multiple submitters Leber congenital amaurosis
p.Gly333Arg Multiple submitters retinitis pigmentosa 12 ⚠
p.Gly477Arg Multiple submitters Leber congenital amaurosis 8
p.Gly614Val Multiple submitters inherited retinal dystrophy
p.Gly615Val Multiple submitters Leber congenital amaurosis 8 ⚠
p.Gly750Val Multiple submitters Leber congenital amaurosis 8
p.Gly770Ser Multiple submitters retinitis pigmentosa 12 ⚠
p.Gly833Arg Multiple submitters retinitis pigmentosa 12
p.Gly833Asp Multiple submitters Leber congenital amaurosis 8
p.Gly834Asp Multiple submitters Leber congenital amaurosis
p.Gly846Arg Multiple submitters inherited retinal dystrophy ⚠
p.Gly850Val Multiple submitters Leber congenital amaurosis 8
p.Gly936Ter Multiple submitters Leber congenital amaurosis 8
p.Ile1100Thr Multiple submitters Leber congenital amaurosis 8 ⚠
p.Ile20fs Multiple submitters Leber congenital amaurosis
p.Ile384fs Multiple submitters Leber congenital amaurosis
p.Ile852Thr Multiple submitters inherited retinal dystrophy
p.Ile961fs Multiple submitters Leber congenital amaurosis 8
p.Leu1074Ser Multiple submitters Leber congenital amaurosis 8
p.Leu1107Pro Multiple submitters Leber congenital amaurosis 8 ⚠
p.Leu1140Ter Multiple submitters retinitis pigmentosa 12
p.Leu415Ter Multiple submitters inherited retinal dystrophy
p.Leu479Pro Multiple submitters retinitis pigmentosa 12 ⚠
p.Leu751Ter Multiple submitters retinitis pigmentosa 12
p.Met1041Val Multiple submitters inherited retinal dystrophy ⚠
p.Met741Thr Multiple submitters retinitis pigmentosa 12 ⚠
p.Phe425fs Multiple submitters Leber congenital amaurosis 8
p.Pro1305Leu Multiple submitters Leber congenital amaurosis 8 ⚠
p.Pro836fs Multiple submitters retinitis pigmentosa 12
p.Pro836Thr Multiple submitters CRB1-related disorder ⚠
p.Ser1006Phe Multiple submitters retinitis pigmentosa 12 ⚠
p.Ser1006Tyr Multiple submitters Leber congenital amaurosis ⚠
p.Ser1025Asn Multiple submitters retinitis pigmentosa 12 ⚠
p.Ser345fs Multiple submitters retinitis pigmentosa 12
p.Ser379Ter Multiple submitters retinitis pigmentosa 12
p.Ser38fs Multiple submitters Leber congenital amaurosis 8
p.Ser487Pro Multiple submitters retinitis pigmentosa 12
p.Ser586fs Multiple submitters retinitis pigmentosa 12
p.Ser611fs Multiple submitters retinitis pigmentosa 12
p.Ser611Pro Multiple submitters retinitis pigmentosa 12 ⚠
p.Ser638Leu Multiple submitters inherited retinal dystrophy ⚠
p.Thr1347fs Multiple submitters Leber congenital amaurosis 8
p.Thr332fs Multiple submitters retinitis pigmentosa 12
p.Thr745Lys Multiple submitters retinitis pigmentosa 12
p.Thr745Met Multiple submitters inherited retinal dystrophy ⚠
p.Trp1293Ter Multiple submitters retinitis pigmentosa 12
p.Trp906Ter Multiple submitters retinitis pigmentosa 12
p.Tyr208Ter Multiple submitters Leber congenital amaurosis 8
p.Tyr541Ter Multiple submitters retinitis pigmentosa 12
p.Tyr702Cys Multiple submitters retinitis pigmentosa 12 ⚠
p.Tyr724Cys Multiple submitters Leber congenital amaurosis 8 ⚠

Likely pathogenic 215

c.1172-2A>G Multiple submitters retinitis pigmentosa 12
c.2676+1G>A Multiple submitters Leber congenital amaurosis
c.2843-1G>T Multiple submitters Leber congenital amaurosis
c.3878+2dup Multiple submitters inherited retinal dystrophy
c.71-2A>G Multiple submitters retinitis pigmentosa 12
c.849-2A>G Multiple submitters retinitis pigmentosa 12
p.Ala161Val Multiple submitters Leber congenital amaurosis
p.Asp564Asn Multiple submitters retinitis pigmentosa 12 ⚠
p.Cys1165Arg Multiple submitters retinitis pigmentosa 12
p.Cys1181Arg Multiple submitters inherited retinal dystrophy
p.Cys1181Ser Multiple submitters inherited retinal dystrophy
p.Cys1321Gly Multiple submitters retinitis pigmentosa 12
p.Cys183Tyr Multiple submitters inherited retinal dystrophy
p.Cys201Arg Multiple submitters Leber congenital amaurosis 8
p.Cys450Arg Multiple submitters retinitis pigmentosa 12
p.Cys450Ser Multiple submitters retinitis pigmentosa 12
p.Cys67_Asp68delinsTer Multiple submitters inherited retinal dystrophy
p.Cys891Gly Multiple submitters Leber congenital amaurosis
p.Gln1139Ter Multiple submitters Leber congenital amaurosis
p.Glu1403Asp Multiple submitters retinitis pigmentosa 12 ⚠
p.Gly685Ala Multiple submitters retinitis pigmentosa 12 ⚠
p.Ile482_Thr484del Multiple submitters Leber congenital amaurosis 8
p.Ser749del Multiple submitters Leber congenital amaurosis 8
p.Trp306Ter Multiple submitters Leber congenital amaurosis
p.Val743Leu Multiple submitters retinitis pigmentosa 12 ⚠
c.1171+1G>A Single submitter retinitis pigmentosa 12
c.1172-1G>A Single submitter Leber congenital amaurosis 8
c.1172-1G>T Single submitter retinitis pigmentosa 12
c.2128+1G>A Single submitter retinitis pigmentosa 12
c.2676+2T>G Single submitter retinitis pigmentosa
c.2677-1G>T Single submitter Leber congenital amaurosis 8
c.2677-2A>G Single submitter Leber congenital amaurosis 8
c.2842+1G>A Single submitter Leber congenital amaurosis 8
c.2842+2T>C Single submitter Leber congenital amaurosis 8
c.3749+1G>A Single submitter retinitis pigmentosa 12
c.3749+1G>C Single submitter Leber congenital amaurosis 8
c.3749+2_3749+3del Single submitter retinitis pigmentosa 12
c.3750-2A>G Single submitter Leber congenital amaurosis
c.3750-3_3750-2del Single submitter Leber congenital amaurosis 8
c.3878+1G>A Single submitter Leber congenital amaurosis 8
c.4006-1G>C Single submitter retinitis pigmentosa 12
c.70+1G>T Single submitter Leber congenital amaurosis 8
c.70+2T>A Single submitter retinitis pigmentosa 12
c.848+2T>C Single submitter Leber congenital amaurosis 8
p.Ala138fs Single submitter Leber congenital amaurosis 8
p.Ala521Val Single submitter retinitis pigmentosa ⚠
p.Ala713Val Single submitter inherited retinal dystrophy ⚠
p.Arg1250Lys Single submitter Leber congenital amaurosis ⚠
p.Asn1112fs Single submitter Leber congenital amaurosis 8
p.Asn1225fs Single submitter Leber congenital amaurosis 8
p.Asn30fs Single submitter Leber congenital amaurosis
p.Asn418fs Single submitter inherited retinal dystrophy
p.Asn629fs Single submitter Leber congenital amaurosis 8
p.Asn898Lys Single submitter retinitis pigmentosa 12 ⚠
p.Asp193fs Single submitter Leber congenital amaurosis 8
p.Asp241fs Single submitter Leber congenital amaurosis 8
p.Asp720Val Single submitter Leber congenital amaurosis 8 ⚠
p.Asp72fs Single submitter Leber congenital amaurosis
p.Asp730fs Single submitter Leber congenital amaurosis
p.Cys1165Trp Single submitter retinitis pigmentosa 12
p.Cys1174_Glu1175delinsTer Single submitter inherited retinal dystrophy
p.Cys1223Ser Single submitter retinitis pigmentosa 12
p.Cys1238Arg Single submitter Leber congenital amaurosis 8
p.Cys1259fs Single submitter Leber congenital amaurosis
p.Cys1283fs Single submitter Leber congenital amaurosis 8
p.Cys1285Arg Single submitter retinitis pigmentosa 12
p.Cys1312Phe Single submitter Leber congenital amaurosis 8
p.Cys1321fs Single submitter Leber congenital amaurosis 8
p.Cys1332Trp Single submitter retinitis pigmentosa 12
p.Cys134Phe Single submitter retinitis pigmentosa 12
p.Cys152Arg Single submitter retinitis pigmentosa 12
p.Cys152Ter Single submitter Leber congenital amaurosis 8
p.Cys163Phe Single submitter Leber congenital amaurosis 1
p.Cys190Arg Single submitter retinitis pigmentosa 12
p.Cys195Trp Single submitter Leber congenital amaurosis 8
p.Cys239Ser Single submitter retinitis pigmentosa 12
p.Cys239Tyr Single submitter retinitis pigmentosa 12
p.Cys288fs Single submitter Leber congenital amaurosis 8
p.Cys298_Glu299delinsTer Single submitter Leber congenital amaurosis 8
p.Cys310Tyr Single submitter Leber congenital amaurosis
p.Cys383Gly Single submitter retinitis pigmentosa 12
p.Cys394Phe Single submitter Leber congenital amaurosis 8
p.Cys423fs Single submitter Leber congenital amaurosis 8
p.Cys423Gly Single submitter retinitis pigmentosa 12
p.Cys438Ser Single submitter retinitis pigmentosa 12
p.Cys45fs Single submitter Leber congenital amaurosis 8
p.Cys591Ter Single submitter Leber congenital amaurosis
p.Cys670Ter Single submitter Leber congenital amaurosis
p.Cys696Tyr Single submitter retinitis pigmentosa 12
p.Cys707Phe Single submitter retinitis pigmentosa
p.Cys85Ter Single submitter inherited retinal dystrophy
p.Cys896Ser Single submitter Leber congenital amaurosis 8
p.Cys902fs Single submitter Leber congenital amaurosis 8
p.Cys928Arg Single submitter Leber congenital amaurosis
p.Cys939Arg Single submitter Leber congenital amaurosis 8
p.Cys948Gly Single submitter retinitis pigmentosa 12
p.Gln407Ter Single submitter Leber congenital amaurosis 8
p.Gln679Ter Single submitter Leber congenital amaurosis 8
p.Glu1295_Cys1301del Single submitter Leber congenital amaurosis 8
p.Glu1333Ter Single submitter Leber congenital amaurosis
p.Glu1403Lys Single submitter retinitis pigmentosa 12 ⚠
p.Glu198Ter Single submitter Leber congenital amaurosis
p.Glu227Ter Single submitter Leber congenital amaurosis 8
p.Glu360Ter Single submitter Leber congenital amaurosis 8
p.Glu536fs Single submitter retinitis pigmentosa 12
p.Glu566Ter Single submitter retinitis pigmentosa 12
p.Glu710Lys Single submitter retinitis pigmentosa 12 ⚠
p.Glu997fs Single submitter Leber congenital amaurosis
p.Gly1104Asp Single submitter retinitis pigmentosa ⚠
p.Gly115fs Single submitter Leber congenital amaurosis
p.Gly1208fs Single submitter Leber congenital amaurosis 8
p.Gly1309fs Single submitter Leber congenital amaurosis 8
p.Gly1310fs Single submitter Leber congenital amaurosis
p.Gly333fs Single submitter Leber congenital amaurosis 8
p.Gly333Val Single submitter Leber congenital amaurosis 8
p.Gly352_Cys354del Single submitter retinitis pigmentosa 12
p.Gly410Asp Single submitter inherited retinal dystrophy
p.Gly474Asp Single submitter retinitis pigmentosa 12
p.Gly477Val Single submitter retinitis pigmentosa 12
p.Gly614Arg Single submitter Leber congenital amaurosis 8
p.Gly615Ser Single submitter Leber congenital amaurosis 1 ⚠
p.Gly685Arg Single submitter retinitis pigmentosa 12
p.Gly685Val Single submitter retinitis pigmentosa 12
p.Gly750Asp Single submitter inherited retinal dystrophy
p.Gly750Ser Single submitter retinitis pigmentosa 12 ⚠
p.Gly770Arg Single submitter inherited retinal dystrophy
p.Gly846Glu Single submitter retinitis pigmentosa 12 ⚠
p.Gly850Asp Single submitter retinitis pigmentosa 12
p.Gly850Cys Single submitter retinitis pigmentosa 12
p.Gly850fs Single submitter Leber congenital amaurosis 8
p.Gly884fs Single submitter
p.Gly899Arg Single submitter Leber congenital amaurosis 8 ⚠
p.Gly929fs Single submitter Leber congenital amaurosis 8
p.Gly945Arg Single submitter retinitis pigmentosa 12
p.Gly945fs Single submitter Leber congenital amaurosis 8
p.His903fs Single submitter pigmented paravenous retinochoroidal atrophy
p.Ile1003Thr Single submitter inherited retinal dystrophy
p.Ile1102Ser Single submitter Leber congenital amaurosis 8 ⚠
p.Ile111fs Single submitter retinitis pigmentosa 12
p.Ile976Thr Single submitter Leber congenital amaurosis 8
p.Leu1126fs Single submitter Leber congenital amaurosis 8
p.Leu556fs Single submitter Leber congenital amaurosis 8
p.Leu755Ser Single submitter retinitis pigmentosa 12 ⚠
p.Leu767fs Single submitter Leber congenital amaurosis
p.Leu788Pro Single submitter inherited retinal dystrophy ⚠
p.Leu857fs Single submitter Leber congenital amaurosis 8
p.Lys29Ter Single submitter inherited retinal dystrophy
p.Lys534Glu Single submitter Leber congenital amaurosis 8 ⚠
p.Lys97fs Single submitter Leber congenital amaurosis 8
p.Met1Val Single submitter Leber congenital amaurosis
p.Met741Ile Single submitter retinitis pigmentosa 12 ⚠
p.Phe727Leu Single submitter ⚠
p.Pro1305Ala Single submitter retinitis pigmentosa 12 ⚠
p.Pro1305Arg Single submitter retinitis pigmentosa 12 ⚠
p.Pro1381Arg Single submitter Leber congenital amaurosis ⚠
p.Pro634fs Single submitter Leber congenital amaurosis 8
p.Pro701fs Single submitter Leber congenital amaurosis 8
p.Pro777fs Single submitter
p.Ser1049Pro Single submitter retinitis pigmentosa 12
p.Ser1252fs Single submitter Leber congenital amaurosis 8
p.Ser545fs Single submitter Leber congenital amaurosis 8
p.Ser563fs Single submitter inherited retinal dystrophy
p.Ser749Ter Single submitter Leber congenital amaurosis 8
p.Ser958fs Single submitter retinitis pigmentosa 12
p.Thr1024fs Single submitter retinitis pigmentosa 12
p.Thr1065fs Single submitter Leber congenital amaurosis 8
p.Thr1099fs Single submitter retinitis pigmentosa 12
p.Thr1207fs Single submitter Leber congenital amaurosis 8
p.Thr1275fs Single submitter Leber congenital amaurosis
p.Thr238fs Single submitter Leber congenital amaurosis 8
p.Thr431fs Single submitter Leber congenital amaurosis 8
p.Thr476fs Single submitter Leber congenital amaurosis 8
p.Trp1169Ter Single submitter inherited retinal dystrophy
p.Trp1394Ter Single submitter Leber congenital amaurosis 8
p.Trp328Ter Single submitter Leber congenital amaurosis
p.Trp766Ter Single submitter CRB1-related maculopathy
p.Tyr1019fs Single submitter Leber congenital amaurosis 8
p.Tyr1106Ter Single submitter Leber congenital amaurosis 8
p.Tyr323Ter Single submitter
p.Tyr733Ter Single submitter Leber congenital amaurosis
p.Tyr803Ter Single submitter Leber congenital amaurosis 8
p.Val901Phe Single submitter retinitis pigmentosa 12 ⚠
c.3999_4005+4delinsAAAGGAGAGC No assertion criteria Leber congenital amaurosis 8
p.Ala1362Asp No assertion criteria Leber congenital amaurosis 8
p.Arg1331Gly No assertion criteria retinitis pigmentosa ⚠
p.Asn880Asp No assertion criteria Leber congenital amaurosis 8 ⚠
p.Asp1335Tyr No assertion criteria Leber congenital amaurosis 8 ⚠
p.Cys1285Tyr No assertion criteria Leber congenital amaurosis 8
p.Cys1321Ser No assertion criteria Leber congenital amaurosis 8
p.Cys201Ser No assertion criteria inherited retinal dystrophy
p.Cys325Tyr No assertion criteria Leber congenital amaurosis 8
p.Cys348Tyr No assertion criteria Leber congenital amaurosis 8
p.Cys508_Asn509delinsTyr No assertion criteria Leber congenital amaurosis 8
p.Cys696Ser No assertion criteria inherited retinal dystrophy
p.Glu1387Ter No assertion criteria inherited retinal dystrophy
p.Glu995fs No assertion criteria inherited retinal dystrophy
p.Gly1103Val No assertion criteria Leber congenital amaurosis 8 ⚠
p.Gly723Asp No assertion criteria inherited retinal dystrophy ⚠
p.Gly850Ala No assertion criteria Leber congenital amaurosis 8
p.Ile1358Asn No assertion criteria Leber congenital amaurosis 8 ⚠
p.Ile558Thr No assertion criteria retinitis pigmentosa ⚠
p.Leu369Pro No assertion criteria pigmented paravenous retinochoroidal atrophy ⚠
p.Leu556Pro No assertion criteria retinitis pigmentosa
p.Leu807Arg No assertion criteria retinitis pigmentosa 12
p.Leu862Arg No assertion criteria Leber congenital amaurosis 8 ⚠
p.Lys673Glu No assertion criteria retinitis pigmentosa ⚠
p.Met741fs No assertion criteria Leber congenital amaurosis
p.Phe847Ser No assertion criteria Leber congenital amaurosis 8 ⚠
p.Pro270fs No assertion criteria inherited retinal dystrophy
p.Pro519Gln No assertion criteria retinitis pigmentosa ⚠
p.Ser1025Ile No assertion criteria Leber congenital amaurosis 8 ⚠
p.Ser500Ter No assertion criteria Leber congenital amaurosis 8
p.Ser740Phe No assertion criteria Leber congenital amaurosis 8
p.Tyr631Ter No assertion criteria retinitis pigmentosa
p.Val1055Glu No assertion criteria Leber congenital amaurosis 8 ⚠

Conflicting classifications of pathogenicity 115

c.1172-12A>G Single submitter pigmented paravenous retinochoroidal atrophy
c.2843-13C>T Single submitter retinitis pigmentosa 12
c.3750-3T>C Single submitter retinitis pigmentosa 12
c.3878+10A>G Single submitter retinitis pigmentosa 12
c.3878+15A>T Single submitter retinitis pigmentosa 12
c.3878+9C>T Single submitter pigmented paravenous retinochoroidal atrophy
c.4006-10A>G Single submitter pigmented paravenous retinochoroidal atrophy
c.*393T>C Single submitter pigmented paravenous retinochoroidal atrophy
p.Ala1354Asp Single submitter retinitis pigmentosa 12 ⚠
p.Ala161Thr Single submitter Leber congenital amaurosis 8 ⚠
p.Ala511= Single submitter retinitis pigmentosa
p.Ala595Thr Single submitter retinitis pigmentosa 12 ⚠
p.Ala626= Single submitter retinitis pigmentosa
p.Ala937Thr Single submitter inherited retinal dystrophy ⚠
p.Ala992= Single submitter retinitis pigmentosa 12
p.Arg1383His Single submitter Leber congenital amaurosis 8 ⚠
p.Arg33Ser Single submitter Leber congenital amaurosis 8 ⚠
p.Arg365His Single submitter Inborn genetic diseases ⚠
p.Arg686Cys Single submitter Leber congenital amaurosis 8 ⚠
p.Arg744= Single submitter pigmented paravenous retinochoroidal atrophy
p.Arg764His Single submitter retinitis pigmentosa 12 ⚠
p.Arg905Gln Single submitter retinitis pigmentosa 12 ⚠
p.Asn789del Single submitter Leber congenital amaurosis
p.Asn880Lys Single submitter retinitis pigmentosa 12 ⚠
p.Asn880Ser Single submitter retinitis pigmentosa 12 ⚠
p.Asn894Ser Single submitter hereditary macular dystrophy ⚠
p.Asn986Ile Single submitter retinitis pigmentosa 12 ⚠
p.Asp1031Asn Single submitter retinitis pigmentosa 12 ⚠
p.Asp1056His Single submitter retinitis pigmentosa 12 ⚠
p.Asp1056Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Asp1076= Single submitter retinitis pigmentosa 12
p.Asp1343= Single submitter inherited retinal dystrophy
p.Asp491Val Single submitter CRB1-related maculopathy ⚠
p.Asp584= Single submitter retinitis pigmentosa 12
p.Cys1154Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Cys1218Gly Single submitter Leber congenital amaurosis ⚠
p.Cys1218Ser Single submitter Leber congenital amaurosis 8 ⚠
p.Cys1285Gly Single submitter retinitis pigmentosa 12 ⚠
p.Cys1312Trp Single submitter retinitis pigmentosa 12 ⚠
p.Cys136Tyr Single submitter Leber congenital amaurosis ⚠
p.Cys172Phe Single submitter retinitis pigmentosa 12 ⚠
p.Cys183Arg Single submitter Leber congenital amaurosis 8 ⚠
p.Cys212Tyr Single submitter Leber congenital amaurosis 8 ⚠
p.Cys383Arg Single submitter Leber congenital amaurosis 8 ⚠
p.Cys394Tyr Single submitter inherited retinal dystrophy ⚠
p.Cys438Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Cys469Gly Single submitter retinitis pigmentosa 12 ⚠
p.Cys54Phe Single submitter retinitis pigmentosa 12 ⚠
p.Cys587Tyr Single submitter inherited retinal dystrophy ⚠
p.Cys670= Single submitter retinitis pigmentosa
p.Cys896Phe Single submitter Leber congenital amaurosis 8 ⚠
p.Cys896Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Cys928Tyr Single submitter retinitis pigmentosa ⚠
p.Cys933Tyr Single submitter Leber congenital amaurosis 8 ⚠
p.Cys939Tyr Single submitter Leber congenital amaurosis 8 ⚠
p.Gln349Leu Single submitter Leber congenital amaurosis 8 ⚠
p.Glu1333Lys Single submitter inherited retinal dystrophy ⚠
p.Glu222Lys Single submitter pigmented paravenous retinochoroidal atrophy ⚠
p.Gly1288Asp Single submitter retinitis pigmentosa 12 ⚠
p.Gly1377Glu Single submitter Leber congenital amaurosis 8 ⚠
p.Gly454Arg Single submitter pigmented paravenous retinochoroidal atrophy ⚠
p.Gly490= Single submitter retinitis pigmentosa 12
p.Gly615Asp Single submitter retinitis pigmentosa ⚠
p.Gly641Ala Single submitter retinitis pigmentosa 12 ⚠
p.Gly833Cys Single submitter retinitis pigmentosa 12 ⚠
p.His1232Arg Single submitter pigmented paravenous retinochoroidal atrophy ⚠
p.Ile1100Arg Single submitter retinitis pigmentosa 12 ⚠
p.Ile1178Val Single submitter Inborn genetic diseases ⚠
p.Ile1344Val Single submitter Inborn genetic diseases ⚠
p.Ile167_Gly169del Single submitter CRB1-related disorder
p.Ile205Thr Single submitter Leber congenital amaurosis 8 ⚠
p.Ile366Leu Single submitter Inborn genetic diseases ⚠
p.Ile546Val Single submitter retinitis pigmentosa 12 ⚠
p.Ile737Val Single submitter inherited retinal dystrophy ⚠
p.Leu1021Pro Single submitter retinitis pigmentosa ⚠
p.Leu1071= Single submitter retinitis pigmentosa 12
p.Leu10Pro Single submitter Leber congenital amaurosis 8 ⚠
p.Leu753Pro Single submitter inherited retinal dystrophy ⚠
p.Leu767Pro Single submitter retinitis pigmentosa 12 ⚠
p.Leu857Arg Single submitter CRB1-related disorder ⚠
p.Leu916Phe Single submitter Inborn genetic diseases ⚠
p.Lys673Arg Single submitter retinitis pigmentosa 12 ⚠
p.Lys994Glu Single submitter retinitis pigmentosa 12 ⚠
p.Met1053Val Single submitter Leber congenital amaurosis 8 ⚠
p.Phe1125Leu Single submitter retinitis pigmentosa 12 ⚠
p.Phe1319Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Phe144Val Single submitter Leber congenital amaurosis 8 ⚠
p.Phe488Ser Single submitter Leber congenital amaurosis 8 ⚠
p.Phe742Ser Single submitter retinitis pigmentosa ⚠
p.Pro617Gln Single submitter optic atrophy ⚠
p.Pro637Leu Single submitter Leber congenital amaurosis 8 ⚠
p.Pro701= Single submitter retinitis pigmentosa 12
p.Pro780= Single submitter Leber congenital amaurosis 8
p.Pro89Ser Single submitter pigmented paravenous retinochoroidal atrophy ⚠
p.Pro941Leu Single submitter Inborn genetic diseases ⚠
p.Ser545Pro Single submitter Leber congenital amaurosis 1 ⚠
p.Ser638= Single submitter retinitis pigmentosa 12
p.Ser678Asn Single submitter retinitis pigmentosa 12 ⚠
p.Ser758Cys Single submitter Leber congenital amaurosis 8 ⚠
p.Ser797Pro Single submitter Leber congenital amaurosis 8 ⚠
p.Ser958= Single submitter retinitis pigmentosa 12
p.Thr200= Single submitter retinitis pigmentosa 12
p.Thr289= Single submitter inherited retinal dystrophy
p.Thr431Ile Single submitter Inborn genetic diseases ⚠
p.Thr821Met Single submitter retinitis pigmentosa 12 ⚠
p.Tyr631Cys Single submitter Leber congenital amaurosis 8 ⚠
p.Tyr733Cys Single submitter retinitis pigmentosa 12 ⚠
p.Tyr808Cys Single submitter Leber congenital amaurosis 8 ⚠
p.Val1029Glu Single submitter Leber congenital amaurosis ⚠
p.Val1133Met Single submitter retinitis pigmentosa ⚠
p.Val162Met Single submitter retinitis pigmentosa 12 ⚠
p.Val398Ile Single submitter Leber congenital amaurosis 8 ⚠
p.Val578Glu Single submitter Leber congenital amaurosis 8 ⚠
p.Asp584Tyr No assertion criteria Leber congenital amaurosis 8 ⚠
p.Cys336Arg No assertion criteria inherited retinal dystrophy ⚠

Benign 29

c.1171+116G>A Multiple submitters
c.2677-493A>G Multiple submitters Leber congenital amaurosis 8
c.3878+137A>G Multiple submitters
c.4006-92G>T Multiple submitters
c.71-12A>T Multiple submitters Leber congenital amaurosis 8
c.849-35T>C Multiple submitters Leber congenital amaurosis 8
c.849-62T>G Multiple submitters pigmented paravenous retinochoroidal atrophy
c.988+35C>T Multiple submitters
c.989-111C>G Multiple submitters
c.989-53T>G Multiple submitters Leber congenital amaurosis 8
p.Leu470= Multiple submitters Leber congenital amaurosis 8
c.1172-13dup Single submitter retinitis pigmentosa 12
c.2677-129C>A Single submitter
c.3750-238C>T Single submitter
c.652+240T>C Single submitter
c.653-6del Single submitter retinitis pigmentosa 12
c.70+50_70+52del Single submitter
c.71-135T>C Single submitter
c.71-13dup Single submitter retinitis pigmentosa 12
c.71-144A>G Single submitter
c.848+133A>G Single submitter
c.848+9del Single submitter retinitis pigmentosa 12
c.848+9dup Single submitter retinitis pigmentosa 12
c.849-231C>G Single submitter
c.988+13dup Single submitter retinitis pigmentosa 12
c.988+155A>G Single submitter
c.988+48T>C Single submitter
p.His149= Single submitter retinitis pigmentosa 12
p.Phe493= Single submitter Leber congenital amaurosis 8

Benign/Likely benign 10

c.2128+15A>C Multiple submitters pigmented paravenous retinochoroidal atrophy
c.2677-8C>T Multiple submitters retinitis pigmentosa
c.4005+4AGC[3] Multiple submitters Leber congenital amaurosis 8
c.*28T>C Multiple submitters retinitis pigmentosa 12
p.Arg1331His Multiple submitters Leber congenital amaurosis 8 ⚠
p.Arg769His Multiple submitters inherited retinal dystrophy
p.Asn1057= Multiple submitters Leber congenital amaurosis 8
p.Asn549= Multiple submitters Leber congenital amaurosis 8
p.Gly846= Multiple submitters Leber congenital amaurosis 8
p.Ser662= Multiple submitters inherited retinal dystrophy

Likely benign 676

Showing the top 300 by review status; the full set is in the sitemap.

c.2843-3dup Multiple submitters retinitis pigmentosa 12
p.Asn665= Multiple submitters retinitis pigmentosa 12
p.Asp193= Multiple submitters pigmented paravenous retinochoroidal atrophy
p.Asp249= Multiple submitters Leber congenital amaurosis 8
p.Asp397His Multiple submitters Leber congenital amaurosis 8
p.Cys394= Multiple submitters inherited retinal dystrophy
p.Glu993Lys Multiple submitters Leber congenital amaurosis 8
p.Ile1178= Multiple submitters pigmented paravenous retinochoroidal atrophy
p.Ile1358= Multiple submitters Leber congenital amaurosis 8
p.Ile338= Multiple submitters retinitis pigmentosa 12
p.Ile800Val Multiple submitters Leber congenital amaurosis 8
p.Pro941= Multiple submitters Leber congenital amaurosis 8
p.Ser359Ala Multiple submitters Leber congenital amaurosis 8
p.Ser402= Multiple submitters retinitis pigmentosa 12
p.Thr289Met Multiple submitters Leber congenital amaurosis 8 ⚠
p.Val855Ile Multiple submitters Inborn genetic diseases
p.Val879= Multiple submitters retinitis pigmentosa 12
c.1171+10A>G Single submitter retinitis pigmentosa 12
c.1171+11G>C Single submitter retinitis pigmentosa 12
c.1171+15A>G Single submitter retinitis pigmentosa 12
c.1171+7C>A Single submitter retinitis pigmentosa 12
c.1171+7C>T Single submitter Leber congenital amaurosis 8
c.1171+8C>A Single submitter retinitis pigmentosa 12
c.1171+9A>G Single submitter retinitis pigmentosa 12
c.1172-10T>G Single submitter retinitis pigmentosa 12
c.1172-12del Single submitter Leber congenital amaurosis 8
c.1172-15T>A Single submitter retinitis pigmentosa 12
c.1172-15T>C Single submitter retinitis pigmentosa 12
c.1172-16T>G Single submitter Leber congenital amaurosis 8
c.1172-18T>G Single submitter Leber congenital amaurosis 8
c.1172-20C>T Single submitter retinitis pigmentosa 12
c.1172-7T>C Single submitter retinitis pigmentosa 12
c.1172-8T>C Single submitter retinitis pigmentosa 12
c.2128+14G>A Single submitter retinitis pigmentosa 12
c.2128+18del Single submitter Leber congenital amaurosis 8
c.2128+19C>T Single submitter retinitis pigmentosa 12
c.2128+8A>G Single submitter Leber congenital amaurosis 8
c.2129-15A>G Single submitter Leber congenital amaurosis 8
c.2129-20C>T Single submitter Leber congenital amaurosis 8
c.2129-5T>G Single submitter Leber congenital amaurosis 8
c.2129-7A>C Single submitter retinitis pigmentosa 12
c.2129-7A>T Single submitter Leber congenital amaurosis 8
c.2129-8C>T Single submitter Leber congenital amaurosis 8
c.2676+10A>G Single submitter retinitis pigmentosa 12
c.2676+11C>A Single submitter retinitis pigmentosa 12
c.2676+12T>G Single submitter retinitis pigmentosa 12
c.2676+15T>A Single submitter retinitis pigmentosa 12
c.2676+15T>C Single submitter retinitis pigmentosa 12
c.2676+16A>G Single submitter retinitis pigmentosa 12
c.2676+7A>T Single submitter Leber congenital amaurosis 8
c.2677-20T>C Single submitter Leber congenital amaurosis 8
c.2677-446T>C Single submitter inherited retinal dystrophy
c.2842+10G>A Single submitter Leber congenital amaurosis 8
c.2842+13C>T Single submitter retinitis pigmentosa 12
c.2842+18C>T Single submitter Leber congenital amaurosis 8
c.2842+20A>G Single submitter Leber congenital amaurosis 8
c.2842+20A>T Single submitter Leber congenital amaurosis 8
c.2842+7A>G Single submitter retinitis pigmentosa 12
c.2842+8G>T Single submitter retinitis pigmentosa 12
c.2842+9A>T Single submitter retinitis pigmentosa 12
c.2843-10C>T Single submitter retinitis pigmentosa 12
c.2843-15A>G Single submitter retinitis pigmentosa 12
c.2843-4T>A Single submitter Leber congenital amaurosis 8
c.2843-5A>T Single submitter retinitis pigmentosa 12
c.2843-8C>A Single submitter retinitis pigmentosa 12
c.3749+13T>C Single submitter retinitis pigmentosa 12
c.3749+15C>G Single submitter Leber congenital amaurosis 8
c.3749+17T>C Single submitter Leber congenital amaurosis 8
c.3749+18A>C Single submitter retinitis pigmentosa 12
c.3749+8T>A Single submitter Leber congenital amaurosis 8
c.3749+9A>G Single submitter retinitis pigmentosa 12
c.3750-10A>C Single submitter Leber congenital amaurosis 8
c.3750-10A>G Single submitter retinitis pigmentosa 12
c.3750-16G>A Single submitter retinitis pigmentosa 12
c.3750-16G>C Single submitter retinitis pigmentosa 12
c.3750-6C>T Single submitter Leber congenital amaurosis 8
c.3878+10_3878+15del Single submitter retinitis pigmentosa 12
c.3878+10_3878+17del Single submitter retinitis pigmentosa 12
c.3878+12T>C Single submitter retinitis pigmentosa 12
c.3878+14G>C Single submitter retinitis pigmentosa 12
c.3878+17C>A Single submitter retinitis pigmentosa 12
c.3878+17C>G Single submitter Leber congenital amaurosis 8
c.3878+17C>T Single submitter Leber congenital amaurosis 8
c.3878+7C>T Single submitter Leber congenital amaurosis 8
c.3879-13G>A Single submitter Leber congenital amaurosis 8
c.3879-15_3879-12del Single submitter Leber congenital amaurosis 8
c.3879-15C>T Single submitter retinitis pigmentosa 12
c.3879-16T>A Single submitter Leber congenital amaurosis 8
c.3879-16T>C Single submitter retinitis pigmentosa 12
c.3879-16T>G Single submitter retinitis pigmentosa 12
c.3879-4G>A Single submitter retinitis pigmentosa 12
c.3879-4G>T Single submitter retinitis pigmentosa 12
c.3879-9A>G Single submitter Leber congenital amaurosis 8
c.4005+10C>T Single submitter Leber congenital amaurosis 8
c.4006-11A>G Single submitter retinitis pigmentosa 12
c.4006-17G>T Single submitter retinitis pigmentosa 12
c.4006-19A>G Single submitter retinitis pigmentosa 12
c.652+12C>A Single submitter retinitis pigmentosa 12
c.652+12C>G Single submitter retinitis pigmentosa 12
c.652+13A>G Single submitter retinitis pigmentosa 12
c.652+13AT[3] Single submitter Leber congenital amaurosis 8
c.652+14T>A Single submitter retinitis pigmentosa 12
c.652+14T>C Single submitter Leber congenital amaurosis 8
c.652+17C>G Single submitter Leber congenital amaurosis 8
c.652+17C>T Single submitter retinitis pigmentosa 12
c.652+18_652+19del Single submitter Leber congenital amaurosis 8
c.652+20A>G Single submitter retinitis pigmentosa 12
c.653-10T>G Single submitter Leber congenital amaurosis 8
c.653-11T>G Single submitter Leber congenital amaurosis 8
c.653-5A>G Single submitter retinitis pigmentosa 12
c.653-6T>A Single submitter Leber congenital amaurosis 8
c.653-7_653-6del Single submitter retinitis pigmentosa 12
c.653-9T>G Single submitter retinitis pigmentosa 12
c.70+10_70+14dup Single submitter Leber congenital amaurosis 8
c.70+10dup Single submitter Leber congenital amaurosis 8
c.70+13C>G Single submitter retinitis pigmentosa 12
c.70+17T>G Single submitter Leber congenital amaurosis 8
c.70+18T>C Single submitter retinitis pigmentosa 12
c.70+18T>G Single submitter retinitis pigmentosa 12
c.70+20G>A Single submitter retinitis pigmentosa 12
c.70+7C>T Single submitter Leber congenital amaurosis 8
c.70+8T>C Single submitter retinitis pigmentosa 12
c.71-10T>A Single submitter retinitis pigmentosa 12
c.71-12A>G Single submitter Leber congenital amaurosis 8
c.71-12del Single submitter retinitis pigmentosa 12
c.71-13T>A Single submitter retinitis pigmentosa 12
c.71-14T>C Single submitter Leber congenital amaurosis 8
c.71-17T>A Single submitter retinitis pigmentosa 12
c.71-18C>T Single submitter retinitis pigmentosa 12
c.71-20T>C Single submitter retinitis pigmentosa 12
c.71-4G>T Single submitter
c.71-5del Single submitter retinitis pigmentosa 12
c.71-6T>C Single submitter retinitis pigmentosa 12
c.71-6T>G Single submitter retinitis pigmentosa 12
c.71-7C>T Single submitter retinitis pigmentosa 12
c.71-8C>T Single submitter
c.71-9T>A Single submitter retinitis pigmentosa 12
c.71-9T>C Single submitter Leber congenital amaurosis 8
c.848+12C>T Single submitter retinitis pigmentosa 12
c.848+13T>C Single submitter retinitis pigmentosa 12
c.848+16C>T Single submitter retinitis pigmentosa 12
c.848+17G>A Single submitter retinitis pigmentosa 12
c.848+17G>T Single submitter retinitis pigmentosa 12
c.848+20G>T Single submitter Leber congenital amaurosis 8
c.849-10T>C Single submitter Leber congenital amaurosis 8
c.849-4C>T Single submitter retinitis pigmentosa 12
c.849-8C>T Single submitter retinitis pigmentosa 12
c.849-9A>G Single submitter retinitis pigmentosa 12
c.988+16C>T Single submitter Leber congenital amaurosis 8
c.988+17C>T Single submitter retinitis pigmentosa 12
c.988+7G>A Single submitter Leber congenital amaurosis 8
c.989-12T>G Single submitter retinitis pigmentosa 12
c.989-16A>T Single submitter retinitis pigmentosa 12
c.989-20T>C Single submitter retinitis pigmentosa 12
c.989-6A>G Single submitter Leber congenital amaurosis 8
c.989-7C>T Single submitter retinitis pigmentosa 12
c.989-8T>A Single submitter retinitis pigmentosa 12
c.989-9A>G Single submitter retinitis pigmentosa 12
p.Ala1086= Single submitter retinitis pigmentosa 12
p.Ala1227= Single submitter retinitis pigmentosa 12
p.Ala1362= Single submitter retinitis pigmentosa 12
p.Ala1374= Single submitter retinitis pigmentosa 12
p.Ala138= Single submitter Leber congenital amaurosis 8
p.Ala141= Single submitter Leber congenital amaurosis 8
p.Ala161= Single submitter retinitis pigmentosa 12
p.Ala2= Single submitter retinitis pigmentosa 12
p.Ala237= Single submitter Leber congenital amaurosis 8
p.Ala251= Single submitter retinitis pigmentosa 12
p.Ala314= Single submitter Leber congenital amaurosis 8
p.Ala334= Single submitter retinitis pigmentosa 12
p.Ala378= Single submitter retinitis pigmentosa 12
p.Ala483Thr Single submitter Leber congenital amaurosis 8
p.Ala575= Single submitter retinitis pigmentosa 12
p.Ala593= Single submitter retinitis pigmentosa 12
p.Ala60= Single submitter Leber congenital amaurosis 8
p.Ala713= Single submitter retinitis pigmentosa 12
p.Ala83= Single submitter retinitis pigmentosa 12
p.Ala872= Single submitter retinitis pigmentosa 12
p.Ala886= Single submitter Leber congenital amaurosis 8
p.Ala915= Single submitter Leber congenital amaurosis 8
p.Ala921= Single submitter retinitis pigmentosa 12
p.Ala937= Single submitter Leber congenital amaurosis 8
p.Arg1050= Single submitter
p.Arg1085= Single submitter retinitis pigmentosa 12
p.Arg1373= Single submitter retinitis pigmentosa 12
p.Arg181= Single submitter retinitis pigmentosa 12
p.Arg33= Single submitter retinitis pigmentosa 12
p.Arg365= Single submitter Leber congenital amaurosis 8
p.Arg436= Single submitter retinitis pigmentosa 12
p.Arg513= Single submitter Leber congenital amaurosis 8
p.Arg529= Single submitter retinitis pigmentosa 12
p.Arg684= Single submitter retinitis pigmentosa 12
p.Arg686= Single submitter retinitis pigmentosa 12
p.Arg700= Single submitter retinitis pigmentosa 12
p.Arg769= Single submitter Leber congenital amaurosis 8
p.Arg905= Single submitter retinitis pigmentosa 12
p.Arg964= Single submitter retinitis pigmentosa 12
p.Arg983= Single submitter retinitis pigmentosa 12
p.Asn1000= Single submitter retinitis pigmentosa 12
p.Asn1016= Single submitter retinitis pigmentosa 12
p.Asn1077= Single submitter retinitis pigmentosa 12
p.Asn1089= Single submitter retinitis pigmentosa 12
p.Asn1131= Single submitter Leber congenital amaurosis 8
p.Asn1144= Single submitter retinitis pigmentosa 12
p.Asn1146= Single submitter Leber congenital amaurosis 8
p.Asn1177= Single submitter Leber congenital amaurosis 8
p.Asn1184= Single submitter
p.Asn1234= Single submitter Leber congenital amaurosis 8
p.Asn1243= Single submitter Leber congenital amaurosis 8
p.Asn1261= Single submitter retinitis pigmentosa 12
p.Asn1265= Single submitter retinitis pigmentosa 12
p.Asn1270= Single submitter retinitis pigmentosa 12
p.Asn1308= Single submitter retinitis pigmentosa 12
p.Asn1371= Single submitter retinitis pigmentosa 12
p.Asn159= Single submitter retinitis pigmentosa 12
p.Asn197= Single submitter Leber congenital amaurosis 8
p.Asn203= Single submitter Leber congenital amaurosis 8
p.Asn220= Single submitter retinitis pigmentosa 12
p.Asn262= Single submitter Leber congenital amaurosis 8
p.Asn28= Single submitter retinitis pigmentosa 12
p.Asn313= Single submitter retinitis pigmentosa 12
p.Asn341= Single submitter retinitis pigmentosa 12
p.Asn346= Single submitter retinitis pigmentosa 12
p.Asn408= Single submitter retinitis pigmentosa 12
p.Asn41= Single submitter retinitis pigmentosa 12
p.Asn414= Single submitter Leber congenital amaurosis 8
p.Asn418Ser Single submitter retinitis pigmentosa 12
p.Asn452= Single submitter Leber congenital amaurosis 8
p.Asn5= Single submitter retinitis pigmentosa 12
p.Asn52= Single submitter retinitis pigmentosa 12
p.Asn61= Single submitter retinitis pigmentosa 12
p.Asn632= Single submitter retinitis pigmentosa 12
p.Asn657= Single submitter Leber congenital amaurosis 8
p.Asn69= Single submitter retinitis pigmentosa 12
p.Asn706= Single submitter retinitis pigmentosa 12
p.Asn778= Single submitter retinitis pigmentosa 12
p.Asn789= Single submitter retinitis pigmentosa 12
p.Asn858= Single submitter retinitis pigmentosa 12
p.Asn861= Single submitter retinitis pigmentosa 12
p.Asn87= Single submitter retinitis pigmentosa 12
p.Asn870= Single submitter Leber congenital amaurosis 8
p.Asn880= Single submitter Leber congenital amaurosis 8
p.Asn889= Single submitter Leber congenital amaurosis 8
p.Asn894= Single submitter retinitis pigmentosa 12
p.Asn955= Single submitter retinitis pigmentosa 12
p.Asn966= Single submitter retinitis pigmentosa 12
p.Asn975= Single submitter Leber congenital amaurosis 8
p.Asn986= Single submitter retinitis pigmentosa 12
p.Asp1031= Single submitter Leber congenital amaurosis 8
p.Asp1056= Single submitter retinitis pigmentosa 12
p.Asp1297= Single submitter retinitis pigmentosa 12
p.Asp1324= Single submitter retinitis pigmentosa 12
p.Asp1338= Single submitter Leber congenital amaurosis 8
p.Asp150= Single submitter retinitis pigmentosa 12
p.Asp165= Single submitter Leber congenital amaurosis 8
p.Asp168= Single submitter Leber congenital amaurosis 8
p.Asp184= Single submitter retinitis pigmentosa 12
p.Asp226= Single submitter retinitis pigmentosa 12
p.Asp318= Single submitter retinitis pigmentosa 12
p.Asp321= Single submitter Leber congenital amaurosis 8
p.Asp339= Single submitter retinitis pigmentosa 12
p.Asp397= Single submitter retinitis pigmentosa 12
p.Asp51= Single submitter Leber congenital amaurosis 8
p.Asp530= Single submitter retinitis pigmentosa 12
p.Asp564= Single submitter retinitis pigmentosa 12
p.Asp58= Single submitter Leber congenital amaurosis 8
p.Asp649= Single submitter Leber congenital amaurosis 8
p.Asp66= Single submitter retinitis pigmentosa 12
p.Asp674= Single submitter Leber congenital amaurosis 8
p.Asp730= Single submitter retinitis pigmentosa 12
p.Asp735= Single submitter retinitis pigmentosa 12
p.Asp790= Single submitter retinitis pigmentosa 12
p.Cys1137= Single submitter retinitis pigmentosa 12
p.Cys1143= Single submitter retinitis pigmentosa 12
p.Cys1163= Single submitter retinitis pigmentosa 12
p.Cys1229= Single submitter retinitis pigmentosa 12
p.Cys1259= Single submitter Leber congenital amaurosis 8
p.Cys1268= Single submitter retinitis pigmentosa 12
p.Cys1312= Single submitter Leber congenital amaurosis 8
p.Cys1332= Single submitter Leber congenital amaurosis 8
p.Cys136= Single submitter Leber congenital amaurosis 8
p.Cys174= Single submitter retinitis pigmentosa 12
p.Cys201= Single submitter Leber congenital amaurosis 8
p.Cys212= Single submitter Leber congenital amaurosis 8
p.Cys221= Single submitter retinitis pigmentosa 12
p.Cys233= Single submitter retinitis pigmentosa 12
p.Cys248= Single submitter Leber congenital amaurosis 8
p.Cys271= Single submitter retinitis pigmentosa 12
p.Cys288= Single submitter retinitis pigmentosa 12
p.Cys298= Single submitter Leber congenital amaurosis 8
p.Cys316= Single submitter Leber congenital amaurosis 8
p.Cys327= Single submitter retinitis pigmentosa 12
p.Cys34= Single submitter Leber congenital amaurosis 8
p.Cys406= Single submitter retinitis pigmentosa 12
p.Cys412= Single submitter retinitis pigmentosa 12
p.Cys421= Single submitter Leber congenital amaurosis 8
p.Cys450= Single submitter retinitis pigmentosa 12
p.Cys54= Single submitter Leber congenital amaurosis 8
p.Cys606= Single submitter retinitis pigmentosa 12
p.Cys67= Single submitter retinitis pigmentosa 12

Uncertain significance 691

Showing the top 300 by review status; the full set is in the sitemap.

c.2677-343G>A Multiple submitters retinitis pigmentosa 12
p.Ala1354Thr Multiple submitters Leber congenital amaurosis 8 ⚠
p.Arg1286Gln Multiple submitters retinitis pigmentosa 12 ⚠
p.Arg1286Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1383Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg365Cys Multiple submitters inherited retinal dystrophy ⚠
p.Arg744Gln Multiple submitters Leber congenital amaurosis 8 ⚠
p.Arg905Trp Multiple submitters retinitis pigmentosa 12 ⚠
p.Asn117Lys Multiple submitters Leber congenital amaurosis 8 ⚠
p.Asn1243His Multiple submitters Inborn genetic diseases ⚠
p.Asn1270Ser Multiple submitters Leber congenital amaurosis 8 ⚠
p.Asn1317His Multiple submitters Leber congenital amaurosis 8 ⚠
p.Asn31del Multiple submitters retinitis pigmentosa 12
p.Asn341Lys Multiple submitters Leber congenital amaurosis 8 ⚠
p.Asn418Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn610Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp1156Asn Multiple submitters retinitis pigmentosa 12 ⚠
p.Asp1179Asn Multiple submitters retinitis pigmentosa 12 ⚠
p.Asp1338Glu Multiple submitters inherited retinal dystrophy ⚠
p.Asp150Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp193Gly Multiple submitters retinitis pigmentosa 12 ⚠
p.Asp257Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp339Asn Multiple submitters retinitis pigmentosa 12 ⚠
p.Asp491Asn Multiple submitters retinitis pigmentosa 12 ⚠
p.Asp585Glu Multiple submitters retinitis pigmentosa 12 ⚠
p.Asp649Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys119Gly Multiple submitters retinitis pigmentosa 12 ⚠
p.Cys1283Tyr Multiple submitters retinitis pigmentosa 12 ⚠
p.Cys1332Ser Multiple submitters Inborn genetic diseases ⚠
p.Cys210Phe Multiple submitters inherited retinal dystrophy ⚠
p.Cys212Phe Multiple submitters retinitis pigmentosa 12 ⚠
p.Cys266Ser Multiple submitters retinitis pigmentosa 12 ⚠
p.Cys288Arg Multiple submitters Leber congenital amaurosis 8 ⚠
p.Cys288Phe Multiple submitters Inborn genetic diseases ⚠
p.Cys305Ser Multiple submitters inherited retinal dystrophy ⚠
p.Cys348Arg Multiple submitters retinitis pigmentosa 12 ⚠
p.Cys45Trp Multiple submitters inherited retinal dystrophy ⚠
p.Cys698Arg Multiple submitters inherited retinal dystrophy ⚠
p.Gln1384Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln362His Multiple submitters Inborn genetic diseases ⚠
p.Gln679Glu Multiple submitters Leber congenital amaurosis 8 ⚠
p.Gln938Pro Multiple submitters Inborn genetic diseases ⚠
p.Glu1180Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu227Lys Multiple submitters retinitis pigmentosa 12 ⚠
p.Glu489Lys Multiple submitters retinitis pigmentosa 12 ⚠
p.Glu571Ala Multiple submitters retinitis pigmentosa 12 ⚠
p.Glu710Gly Multiple submitters Leber congenital amaurosis 8 ⚠
p.Glu806Gln Multiple submitters inherited retinal dystrophy ⚠
p.Glu947Lys Multiple submitters retinitis pigmentosa 12 ⚠
p.Glu995Lys Multiple submitters pigmented paravenous retinochoroidal atrophy ⚠
p.Gly1136Ser Multiple submitters retinitis pigmentosa 12 ⚠
p.Gly1388Asp Multiple submitters retinitis pigmentosa 12 ⚠
p.Gly160Trp Multiple submitters Inborn genetic diseases ⚠
p.Gly253Arg Multiple submitters inherited retinal dystrophy ⚠
p.Gly827Arg Multiple submitters Leber congenital amaurosis 8 ⚠
p.Gly936Arg Multiple submitters retinitis pigmentosa 12 ⚠
p.Gly959Ser Multiple submitters Leber congenital amaurosis 8 ⚠
p.His1035Tyr Multiple submitters Leber congenital amaurosis 8 ⚠
p.His1188Gln Multiple submitters Leber congenital amaurosis 8 ⚠
p.His326Tyr Multiple submitters inherited retinal dystrophy ⚠
p.Ile1003Phe Multiple submitters Leber congenital amaurosis 8 ⚠
p.Ile124Asn Multiple submitters retinitis pigmentosa ⚠
p.Ile22Lys Multiple submitters Inborn genetic diseases ⚠
p.Ile830Phe Multiple submitters retinitis pigmentosa 12 ⚠
p.Leu1071Phe Multiple submitters retinitis pigmentosa 12 ⚠
p.Leu613_Gly614insVal Multiple submitters Leber congenital amaurosis 8
p.Leu999Phe Multiple submitters retinitis pigmentosa 12 ⚠
p.Lys1386Arg Multiple submitters Inborn genetic diseases ⚠
p.Met1284Ile Multiple submitters Inborn genetic diseases ⚠
p.Met1402Thr Multiple submitters pigmented paravenous retinochoroidal atrophy ⚠
p.Pro637Ser Multiple submitters inherited retinal dystrophy ⚠
p.Pro777Leu Multiple submitters retinitis pigmentosa 12 ⚠
p.Pro895Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro941Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser1014Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser1046Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser113Phe Multiple submitters Leber congenital amaurosis 8 ⚠
p.Ser371Pro Multiple submitters retinitis pigmentosa 12
p.Ser402Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser43Pro Multiple submitters retinitis pigmentosa 12 ⚠
p.Ser527Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser732Thr Multiple submitters Leber congenital amaurosis 8 ⚠
p.Ser890Gly Multiple submitters retinitis pigmentosa 12 ⚠
p.Ser904Cys Multiple submitters inherited retinal dystrophy ⚠
p.Ser918Cys Multiple submitters Leber congenital amaurosis 8 ⚠
p.Thr1068Ala Multiple submitters pigmented paravenous retinochoroidal atrophy ⚠
p.Thr1068Asn Multiple submitters Leber congenital amaurosis 8 ⚠
p.Thr1228Asn Multiple submitters Leber congenital amaurosis 8 ⚠
p.Thr1275Arg Multiple submitters CRB1-related disorder ⚠
p.Thr1369Asn Multiple submitters retinitis pigmentosa 12 ⚠
p.Thr238Asn Multiple submitters Leber congenital amaurosis 8 ⚠
p.Thr476Ala Multiple submitters Leber congenital amaurosis 8 ⚠
p.Thr484Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr503Ala Multiple submitters retinitis pigmentosa 12 ⚠
p.Thr88Ile Multiple submitters Inborn genetic diseases ⚠
p.Trp1034Arg Multiple submitters retinitis pigmentosa 12 ⚠
p.Trp567Arg Multiple submitters retinitis pigmentosa 12 ⚠
p.Tyr1106Cys Multiple submitters retinitis pigmentosa 12 ⚠
p.Tyr541Cys Multiple submitters retinitis pigmentosa 12 ⚠
p.Tyr762His Multiple submitters Leber congenital amaurosis 8 ⚠
p.Val1209Met Multiple submitters Inborn genetic diseases ⚠
p.Val1391Leu Multiple submitters retinitis pigmentosa 12 ⚠
p.Val570Met Multiple submitters retinitis pigmentosa 12 ⚠
p.Val578Leu Multiple submitters retinitis pigmentosa 12 ⚠
p.Val879Ala Multiple submitters pigmented paravenous retinochoroidal atrophy ⚠
c.1171+6_1171+7delinsA Single submitter
c.1171+6G>A Single submitter retinitis pigmentosa 12
c.1172-3C>G Single submitter retinitis pigmentosa 12
c.2676+4A>G Single submitter retinitis pigmentosa 12
c.2676+5T>C Single submitter Leber congenital amaurosis 8
c.2677-13C>A Single submitter Leber congenital amaurosis 8
c.2677-471A>G Single submitter inherited retinal dystrophy
c.2842+33T>G Single submitter
c.2843-4_2843-2del Single submitter Leber congenital amaurosis 8
c.3749+5G>A Single submitter Leber congenital amaurosis 8
c.4006-18T>G Single submitter Leber congenital amaurosis 8
c.70+4A>G Single submitter retinitis pigmentosa 12
c.848+4C>G Single submitter retinitis pigmentosa 12
c.-195G>A Single submitter retinitis pigmentosa
c.-204C>T Single submitter retinitis pigmentosa
c.-2C>G Single submitter inherited retinal dystrophy
c.-55C>T Single submitter retinitis pigmentosa
c.-56C>G Single submitter retinitis pigmentosa
c.*116A>G Single submitter pigmented paravenous retinochoroidal atrophy
c.*158G>T Single submitter retinitis pigmentosa
c.*171C>G Single submitter Leber congenital amaurosis 8
c.*261A>G Single submitter Leber congenital amaurosis 8
c.*289A>G Single submitter retinitis pigmentosa
c.*324C>A Single submitter retinitis pigmentosa
c.*412T>C Single submitter pigmented paravenous retinochoroidal atrophy
c.*81C>A Single submitter retinitis pigmentosa
c.*99G>T Single submitter retinitis pigmentosa
p.Ala1086Ser Single submitter Leber congenital amaurosis 8 ⚠
p.Ala1086Val Single submitter Inborn genetic diseases ⚠
p.Ala1197Gly Single submitter Inborn genetic diseases ⚠
p.Ala1227Thr Single submitter retinitis pigmentosa 12 ⚠
p.Ala1328Asp Single submitter ⚠
p.Ala1337Thr Single submitter Leber congenital amaurosis 8 ⚠
p.Ala1374Val Single submitter Inborn genetic diseases ⚠
p.Ala138Asp Single submitter retinitis pigmentosa 12 ⚠
p.Ala1401Glu Single submitter retinitis pigmentosa 12 ⚠
p.Ala1401Val Single submitter Inborn genetic diseases ⚠
p.Ala2_Leu3delinsVal Single submitter hereditary macular dystrophy
p.Ala2Thr Single submitter retinitis pigmentosa 12 ⚠
p.Ala334Thr Single submitter Leber congenital amaurosis 8 ⚠
p.Ala483Pro Single submitter retinitis pigmentosa 12 ⚠
p.Ala521Ser Single submitter Leber congenital amaurosis 8 ⚠
p.Ala577Thr Single submitter inherited retinal dystrophy ⚠
p.Ala593Gly Single submitter Leber congenital amaurosis 8 ⚠
p.Ala593Thr Single submitter ⚠
p.Ala595Pro Single submitter retinitis pigmentosa 12 ⚠
p.Ala595Ser Single submitter retinitis pigmentosa 12 ⚠
p.Ala60Thr Single submitter Inborn genetic diseases ⚠
p.Ala668Val Single submitter retinitis pigmentosa 12 ⚠
p.Ala713Thr Single submitter retinitis pigmentosa 12 ⚠
p.Ala773Thr Single submitter Inborn genetic diseases ⚠
p.Ala872Thr Single submitter Leber congenital amaurosis 8 ⚠
p.Ala921Val Single submitter Inborn genetic diseases ⚠
p.Ala950Val Single submitter retinitis pigmentosa 12 ⚠
p.Arg1050Lys Single submitter pigmented paravenous retinochoroidal atrophy ⚠
p.Arg1050Trp Single submitter Inborn genetic diseases ⚠
p.Arg1373Ser Single submitter Inborn genetic diseases ⚠
p.Arg1383Cys Single submitter Inborn genetic diseases ⚠
p.Arg1383Gly Single submitter retinitis pigmentosa 12 ⚠
p.Arg1390Gln Single submitter Leber congenital amaurosis 8 ⚠
p.Arg1390Pro Single submitter retinitis pigmentosa 12 ⚠
p.Arg33Gly Single submitter retinitis pigmentosa 12 ⚠
p.Arg33Lys Single submitter retinitis pigmentosa ⚠
p.Arg365Pro Single submitter Inborn genetic diseases ⚠
p.Arg365Ser Single submitter Inborn genetic diseases ⚠
p.Arg513Met Single submitter retinitis pigmentosa 12 ⚠
p.Arg526Gln Single submitter retinitis pigmentosa 12 ⚠
p.Arg684Lys Single submitter retinitis pigmentosa 12 ⚠
p.Arg686His Single submitter retinitis pigmentosa 12 ⚠
p.Arg769Cys Single submitter retinitis pigmentosa 12 ⚠
p.Arg769Pro Single submitter retinitis pigmentosa 12 ⚠
p.Arg771Gly Single submitter retinitis pigmentosa 12 ⚠
p.Arg856Lys Single submitter retinitis pigmentosa 12 ⚠
p.Arg856Ser Single submitter retinitis pigmentosa 12 ⚠
p.Arg92Ser Single submitter Leber congenital amaurosis 8 ⚠
p.Asn1243Lys Single submitter Leber congenital amaurosis 8 ⚠
p.Asn1308Ser Single submitter retinitis pigmentosa 12 ⚠
p.Asn30Thr Single submitter Inborn genetic diseases ⚠
p.Asn312Lys Single submitter ⚠
p.Asn31Thr Single submitter Inborn genetic diseases ⚠
p.Asn322Asp Single submitter retinitis pigmentosa 12 ⚠
p.Asn322Ser Single submitter Inborn genetic diseases ⚠
p.Asn344His Single submitter retinitis pigmentosa 12 ⚠
p.Asn399Ser Single submitter retinitis pigmentosa 12 ⚠
p.Asn549Lys Single submitter Inborn genetic diseases ⚠
p.Asn5Ser Single submitter retinitis pigmentosa 12 ⚠
p.Asn629Asp Single submitter ⚠
p.Asn689Ser Single submitter retinitis pigmentosa 12 ⚠
p.Asn778Lys Single submitter retinitis pigmentosa 12 ⚠
p.Asn858Ser Single submitter retinitis pigmentosa 12 ⚠
p.Asn861Thr Single submitter retinitis pigmentosa 12 ⚠
p.Asn871Ser Single submitter retinitis pigmentosa 12 ⚠
p.Asn955His Single submitter pigmented paravenous retinochoroidal atrophy ⚠
p.Asn986Tyr Single submitter inherited retinal dystrophy ⚠
p.Asp1005Gly Single submitter Leber congenital amaurosis 8 ⚠
p.Asp1084Asn Single submitter retinitis pigmentosa 12 ⚠
p.Asp1216Gly Single submitter retinitis pigmentosa 12 ⚠
p.Asp1335= Single submitter retinitis pigmentosa 12
p.Asp1343Asn Single submitter Leber congenital amaurosis 8 ⚠
p.Asp165Glu Single submitter Inborn genetic diseases ⚠
p.Asp165Val Single submitter Inborn genetic diseases ⚠
p.Asp168Tyr Single submitter Leber congenital amaurosis 8 ⚠
p.Asp184Asn Single submitter retinitis pigmentosa 12 ⚠
p.Asp184Gly Single submitter retinitis pigmentosa 12 ⚠
p.Asp193Glu Single submitter retinitis pigmentosa 12 ⚠
p.Asp226Ala Single submitter retinitis pigmentosa 12 ⚠
p.Asp249Asn Single submitter retinitis pigmentosa 12 ⚠
p.Asp318His Single submitter ⚠
p.Asp426Glu Single submitter retinitis pigmentosa 12 ⚠
p.Asp440Val Single submitter inherited retinal dystrophy ⚠
p.Asp47Gly Single submitter Leber congenital amaurosis 8 ⚠
p.Asp585Ala Single submitter Inborn genetic diseases ⚠
p.Asp645Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Asp64His Single submitter Inborn genetic diseases ⚠
p.Asp720Asn Single submitter retinitis pigmentosa 12 ⚠
p.Asp720Gly Single submitter retinitis pigmentosa 12 ⚠
p.Asp72Glu Single submitter Inborn genetic diseases ⚠
p.Asp854His Single submitter ⚠
p.Asp854Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Asp984Ala Single submitter retinitis pigmentosa 12 ⚠
p.Asp984Asn Single submitter Inborn genetic diseases ⚠
p.Cys107Phe Single submitter Leber congenital amaurosis 8 ⚠
p.Cys1143Arg Single submitter Leber congenital amaurosis 8 ⚠
p.Cys1163Tyr Single submitter ⚠
p.Cys1174Gly Single submitter ⚠
p.Cys1174Tyr Single submitter Leber congenital amaurosis 8 ⚠
p.Cys1181Tyr Single submitter ⚠
p.Cys1211Ser Single submitter retinitis pigmentosa 12 ⚠
p.Cys1218Trp Single submitter Inborn genetic diseases ⚠
p.Cys1294Arg Single submitter inherited retinal dystrophy ⚠
p.Cys1294Phe Single submitter retinitis pigmentosa 12 ⚠
p.Cys1301Arg Single submitter ⚠
p.Cys1306_Val1307del Single submitter retinitis pigmentosa 12
p.Cys1306Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Cys136Phe Single submitter Leber congenital amaurosis 8 ⚠
p.Cys145Ser Single submitter inherited retinal dystrophy ⚠
p.Cys157Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Cys163Gly Single submitter Leber congenital amaurosis 8 ⚠
p.Cys174Ser Single submitter retinitis pigmentosa 12 ⚠
p.Cys190Tyr Single submitter Leber congenital amaurosis 8 ⚠
p.Cys210Tyr Single submitter Leber congenital amaurosis 8 ⚠
p.Cys212Ser Single submitter Leber congenital amaurosis 8 ⚠
p.Cys228Arg Single submitter Inborn genetic diseases ⚠
p.Cys228Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Cys233Arg Single submitter retinitis pigmentosa 12 ⚠
p.Cys233Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Cys259Arg Single submitter retinitis pigmentosa 12 ⚠
p.Cys259Tyr Single submitter ⚠
p.Cys277Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Cys288Ser Single submitter ⚠
p.Cys298Arg Single submitter retinitis pigmentosa 12 ⚠
p.Cys298Ser Single submitter ⚠
p.Cys316Trp Single submitter retinitis pigmentosa ⚠
p.Cys327Phe Single submitter ⚠
p.Cys343Arg Single submitter retinitis pigmentosa 12 ⚠
p.Cys354Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Cys412Phe Single submitter retinitis pigmentosa 12 ⚠
p.Cys423Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Cys438Gly Single submitter Leber congenital amaurosis 8 ⚠
p.Cys445Tyr Single submitter Leber congenital amaurosis 8 ⚠
p.Cys606Tyr Single submitter retinitis pigmentosa 12 ⚠
p.Cys67Ser Single submitter retinitis pigmentosa 12 ⚠
p.Cys681Trp Single submitter retinitis pigmentosa 12 ⚠
p.Cys698Tyr Single submitter ⚠
p.Cys74Phe Single submitter Leber congenital amaurosis 8 ⚠
p.Cys74Trp Single submitter retinitis pigmentosa ⚠
p.Cys851Ser Single submitter retinitis pigmentosa 12 ⚠
p.Cys85Phe Single submitter retinitis pigmentosa 12 ⚠
p.Cys85Tyr Single submitter inherited retinal dystrophy ⚠
p.Cys891Arg Single submitter inherited retinal dystrophy ⚠
p.Cys928Trp Single submitter retinitis pigmentosa 12 ⚠
p.Cys948Ser Single submitter inherited retinal dystrophy ⚠
p.Gln1013Pro Single submitter ⚠
p.Gln1027Leu Single submitter inherited retinal dystrophy ⚠
p.Gln1094His Single submitter retinitis pigmentosa 12 ⚠
p.Gln127Arg Single submitter Inborn genetic diseases ⚠
p.Gln1313Glu Single submitter Inborn genetic diseases ⚠
p.Gln164Arg Single submitter Leber congenital amaurosis 8 ⚠
p.Gln269Lys Single submitter Leber congenital amaurosis 8 ⚠
p.Gln335His Single submitter Leber congenital amaurosis 8 ⚠
p.Gln515Leu Single submitter Leber congenital amaurosis 8 ⚠
p.Gln547Pro Single submitter inherited retinal dystrophy ⚠
p.Gln679Pro Single submitter Leber congenital amaurosis 8 ⚠
p.Gln761Arg Single submitter Inborn genetic diseases ⚠
p.Gln809Arg Single submitter Inborn genetic diseases ⚠
p.Gln80Glu Single submitter retinitis pigmentosa 12 ⚠
p.Gln80Leu Single submitter retinitis pigmentosa 12 ⚠
p.Gln853Lys Single submitter Leber congenital amaurosis 8 ⚠
p.Gln883Lys Single submitter retinitis pigmentosa 12 ⚠
p.Glu1036Lys Single submitter Leber congenital amaurosis 8 ⚠
p.Glu1058Gly Single submitter Leber congenital amaurosis 8 ⚠
p.Glu1262Gly Single submitter retinitis pigmentosa 12 ⚠
p.Glu1262Lys Single submitter retinitis pigmentosa 12 ⚠
p.Glu1280Asp Single submitter Leber congenital amaurosis 8 ⚠
p.Glu1385Gln Single submitter Leber congenital amaurosis 8 ⚠