RPGRIP1 — 1252 ClinVar variants

All ClinVar germline RPGRIP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 528 flagged for review →

108 Pathogenic · 27 Pathogenic/Likely pathogenic · 67 Likely pathogenic · 74 Conflicting · 46 Benign · 21 Benign/Likely benign · 331 Likely benign · 578 Uncertain significance

Full RPGRIP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 528

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 3

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

RPGRIP1 p.Glu800Lys Pathogenic/Likely pathogenic Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Gln1034Arg Likely pathogenic Single submitter
RPGRIP1-related disorder
RPGRIP1 p.Pro174Arg Likely pathogenic No assertion criteria
Leber congenital amaurosis 6

Predictors agree, ClinVar conflicts 33

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

RPGRIP1 p.Ala181Gly Conflicting Single submitter
Inborn genetic diseases
RPGRIP1 p.Ala303Thr Conflicting Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Ala960Pro Conflicting Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Arg267Gln Conflicting Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Arg700Gln Conflicting Single submitter
Inborn genetic diseases
RPGRIP1 p.Arg812Gln Conflicting Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Arg852Gln Conflicting Single submitter
optic atrophy
RPGRIP1 p.Arg890Gln Conflicting Single submitter
inherited retinal dystrophy
RPGRIP1 p.Arg89Gln Conflicting Single submitter
Inborn genetic diseases
RPGRIP1 p.Asn766Ser Conflicting Single submitter
Inborn genetic diseases
RPGRIP1 p.Asp778Asn Conflicting Single submitter
Inborn genetic diseases
RPGRIP1 p.Glu1058Lys Conflicting Single submitter
Inborn genetic diseases
RPGRIP1 p.Gly10Glu Conflicting Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Gly126Arg Conflicting Single submitter
Inborn genetic diseases
RPGRIP1 p.Gly671Glu Conflicting Single submitter
Leber congenital amaurosis 1
RPGRIP1 p.His1057Leu Conflicting Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Ile1120Val Conflicting Single submitter
inherited retinal dystrophy
RPGRIP1 p.Ile17Thr Conflicting Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Ile270Val Conflicting Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Ile872Val Conflicting Single submitter
Inborn genetic diseases
RPGRIP1 p.Leu482Phe Conflicting Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Met220Val Conflicting Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Met32Lys Conflicting Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Pro1074Ser Conflicting Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Pro25Leu Conflicting Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Pro599Leu Conflicting Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Pro674Ser Conflicting Single submitter
retinitis pigmentosa
RPGRIP1 p.Pro882Ser Conflicting Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Ser688Leu Conflicting Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Thr909Ala Conflicting Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Tyr823Cys Conflicting Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Val1013Ile Conflicting Single submitter
Inborn genetic diseases
RPGRIP1 p.Val90Ile Conflicting Single submitter
cone dystrophy

Predictors lean, ClinVar uncertain 420

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 420

RPGRIP1 p.Ala1126Val Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Ala224Val Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Ala228Val Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Ala263Ser Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Ala26Val Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Ala318Val Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ala403Val Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Ala480Gly Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Ala513Ser Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ala513Thr Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Ala635Gly Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ala764Val Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Ala837Gly Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Ala889Thr Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Ala960Ser Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Ala960Thr Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Arg110Trp Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Arg1189Gln Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Arg118His Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Arg1190Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Arg142Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Arg52Gln Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Arg54His Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Arg563Gln Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Arg571Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Arg700Trp Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Arg755Cys Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Arg755His Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Arg783Gln Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Arg814Gln Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Arg814Pro Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Arg827His Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Arg867Gln Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Arg888Gln Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Arg981Gln Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Asn533Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Asn626Tyr Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Asn843Asp Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Asp1150Asn Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Asp1217Asn Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Cys535Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Cys765Tyr Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Cys809Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Gln309Arg Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Gln309Glu Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Gln409Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Gln649Lys Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Gln695Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Gln695Lys Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Gln998Arg Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Glu1169Gln Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Glu1185Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Glu1218Lys Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Glu1254Lys Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Glu299Lys Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Glu305Lys Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Glu55Lys Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Glu796Asp Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Glu804Lys Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Glu878Lys Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Glu957Lys Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Glu99Gln Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Gly1012Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Gly104Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Gly1087Val Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Gly108Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Gly313Glu Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Gly917Arg Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.His1274Arg Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.His129Arg Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.His129Leu Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.His180Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.His664Arg Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.His692Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.His873Arg Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.His873Asp Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.His988Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ile1120Leu Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ile488Met Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ile738Val Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ile838Val Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ile839Val Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Leu1022Phe Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Leu1075Val Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Leu1216Pro Uncertain significance Multiple submitters
RPGRIP1 p.Leu322Pro Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Leu323Phe Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Leu323Pro Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Leu46Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Leu517Phe Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Leu517Trp Uncertain significance Multiple submitters
RPGRIP1 p.Lys1278Glu Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Lys280Asn Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Lys338Glu Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Lys369Glu Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Lys442Asn Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Lys591Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Lys898Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Lys898Glu Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Lys983Met Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Met1019Ile Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Met1106Thr Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Met968Val Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Phe853Val Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Pro1074Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Pro1152Ser Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Pro174Leu Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Pro650Arg Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Pro797Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Pro932Ala Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Pro987Leu Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Ser1083Phe Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Ser1084Phe Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ser1124Pro Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ser114Pro Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Ser391Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Ser39Asn Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Ser581Gly Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ser955Phe Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Thr1258Ile Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Thr477Asn Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Thr82Ile Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Thr836Asn Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Tyr1143Cys Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Tyr1228Cys Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Val1272Ile Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Val143Ile Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Val874Ile Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Val973Ile Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ala107Glu Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Ala1131Ser Uncertain significance Single submitter
Inborn genetic diseases
RPGRIP1 p.Ala1275Thr Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Ala139Pro Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Ala139Ser Uncertain significance Single submitter
Inborn genetic diseases
RPGRIP1 p.Ala139Thr Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Ala139Val Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Ala153Gly Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Ala190Asp Uncertain significance Single submitter
Inborn genetic diseases
RPGRIP1 p.Ala268Thr Uncertain significance Single submitter
Inborn genetic diseases
RPGRIP1 p.Ala317Val Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Ala318Gly Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Ala321Asp Uncertain significance Single submitter
Inborn genetic diseases
RPGRIP1 p.Ala340Ser Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Ala635Asp Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Ala640Val Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Ala735Ser Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Ala764Thr Uncertain significance Single submitter
Inborn genetic diseases
RPGRIP1 p.Ala851Thr Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Ala940Pro Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Ala977Val Uncertain significance Single submitter
Leber congenital amaurosis 6

Predictors split 72

The independent predictors disagree with each other — read with care.

RPGRIP1 p.Ala641Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Arg43Trp Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Arg530Cys Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Arg812Trp Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Arg814Leu Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Arg867Trp Likely benign Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Asn626Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Asp1242Glu Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Glu368Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Glu518Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Glu576Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Glu800Gln Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.His631Arg Pathogenic/Likely pathogenic Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Ile1171Thr Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Ile1260Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Leu353Phe Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Phe1148Leu Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ser1091Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ser1154Trp Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ser170Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Ser432Phe Likely benign Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Ser601Trp Uncertain significance Multiple submitters
Leber congenital amaurosis 6
RPGRIP1 p.Tyr595Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Tyr659Cys Uncertain significance Multiple submitters
cone-rod dystrophy 13
RPGRIP1 p.Val683Met Uncertain significance Multiple submitters
Inborn genetic diseases
RPGRIP1 p.Ala1229Gly Uncertain significance Single submitter
RPGRIP1 p.Ala173Asp Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Arg1191Trp Conflicting Single submitter
Inborn genetic diseases
RPGRIP1 p.Arg43Gln Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Arg43Gly Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Arg523Ser Uncertain significance Single submitter
RPGRIP1 p.Arg571His Uncertain significance Single submitter
RPGRIP1 p.Arg700Gly Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Arg827Cys Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Arg890Gly Uncertain significance Single submitter
RPGRIP1 p.Asp1182Val Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Asp1249Gly Uncertain significance Single submitter
RPGRIP1 p.Asp660Gly Uncertain significance Single submitter
RPGRIP1 p.Asp687His Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Gln705Arg Uncertain significance Single submitter
Inborn genetic diseases
RPGRIP1 p.Glu1145Ala Uncertain significance Single submitter
RPGRIP1 p.Glu625Asp Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Gly1261Ala Uncertain significance Single submitter
Inborn genetic diseases
RPGRIP1 p.Gly742Arg Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.His1174Gln Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.His704Arg Uncertain significance Single submitter
RPGRIP1 p.Ile1260Lys Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Leu282Phe Uncertain significance Single submitter
RPGRIP1 p.Leu290Phe Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Leu297Ile Uncertain significance Single submitter
RPGRIP1 p.Leu413Arg Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Leu621Met Uncertain significance Single submitter
RPGRIP1 p.Leu637Val Uncertain significance Single submitter
RPGRIP1 p.Leu694Val Uncertain significance Single submitter
Inborn genetic diseases
RPGRIP1 p.Leu725Val Uncertain significance Single submitter
RPGRIP1 p.Leu762Pro Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Lys521Asn Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Phe177Leu Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Pro1152Leu Uncertain significance Single submitter
Inborn genetic diseases
RPGRIP1 p.Pro1152Thr Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Pro1253Arg Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Pro585Ser Conflicting Single submitter
inherited retinal dystrophy
RPGRIP1 p.Pro845Ser Uncertain significance Single submitter
Inborn genetic diseases
RPGRIP1 p.Pro892Ala Uncertain significance Single submitter
Inborn genetic diseases
RPGRIP1 p.Pro895His Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Ser1124Thr Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Ser619Phe Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Ser639Phe Uncertain significance Single submitter
RPGRIP1 p.Ser688Trp Uncertain significance Single submitter
Inborn genetic diseases
RPGRIP1 p.Thr1281Ile Uncertain significance Single submitter
cone-rod dystrophy 13
RPGRIP1 p.Thr586Arg Uncertain significance Single submitter
Leber congenital amaurosis 6
RPGRIP1 p.Tyr864Phe Uncertain significance Single submitter
Leber congenital amaurosis 6

All RPGRIP1 variants

Pathogenic 108

c.2367+1G>A Multiple submitters cone-rod dystrophy 13
c.2711-2A>G Multiple submitters RPGRIP1-related disorder
c.2895+1G>T Multiple submitters cone-rod dystrophy 13
c.3239-1_3241del Multiple submitters RPGRIP1-related disorder
c.3617+1G>A Multiple submitters RPGRIP1-related disorder
p.Ala824fs Multiple submitters RPGRIP1-related disorder
p.Arg1189Ter Multiple submitters Leber congenital amaurosis 6
p.Arg278Ter Multiple submitters cone-rod dystrophy 13
p.Arg371Ter Multiple submitters cone-rod dystrophy 13
p.Arg563Ter Multiple submitters cone-rod dystrophy 13
p.Arg768Ter Multiple submitters cone-rod dystrophy 13
p.Arg814Ter Multiple submitters cone-rod dystrophy 13
p.Arg852Ter Multiple submitters inherited retinal dystrophy
p.Arg890Ter Multiple submitters RPGRIP1-related disorder
p.Arg981Ter Multiple submitters Leber congenital amaurosis 1
p.Gln140fs Multiple submitters retinal disorder
p.Gln354Ter Multiple submitters cone-rod dystrophy 13
p.Gln483Ter Multiple submitters RPGRIP1-related disorder
p.Gln772Ter Multiple submitters RPGRIP1-related disorder
p.Gln920fs Multiple submitters Leber congenital amaurosis 6
p.Gln979Ter Multiple submitters cone-rod dystrophy 13
p.Glu370fs Multiple submitters cone-rod dystrophy 13
p.Leu406fs Multiple submitters Leber congenital amaurosis
p.Leu870fs Multiple submitters Leber congenital amaurosis 6
p.Lys239fs Multiple submitters cone-rod dystrophy 13
p.Lys372fs Multiple submitters Leber congenital amaurosis 6
p.Lys435Ter Multiple submitters RPGRIP1-related disorder
p.Val1211fs Multiple submitters cone-rod dystrophy 13
c.1151+1G>A Single submitter Leber congenital amaurosis 6
c.1468-128T>G Single submitter Leber congenital amaurosis 6
c.1468-263G>C Single submitter Leber congenital amaurosis 6
c.218+2T>A Single submitter
c.2895+2T>C Single submitter
c.3238+1G>A Single submitter Leber congenital amaurosis 6
c.(3339+1_3340-1 Single submitter inherited retinal dystrophy
c.3748+1G>T Single submitter Leber congenital amaurosis 6
c.801-25_843del Single submitter Leber congenital amaurosis 6
c.931-2_935delinsT Single submitter cone-rod dystrophy 13
p.Ala1093fs Single submitter cone-rod dystrophy 13
p.Ala95fs Single submitter cone-rod dystrophy 13
p.Arg1163fs Single submitter cone-rod dystrophy 13
p.Arg1189fs Single submitter Leber congenital amaurosis
p.Arg137fs Single submitter Leber congenital amaurosis 6
p.Arg148Ter Single submitter cone-rod dystrophy 13
p.Arg267Ter Single submitter Leber congenital amaurosis 6
p.Arg363fs Single submitter cone-rod dystrophy 13
p.Arg992fs Single submitter cone-rod dystrophy 13
p.Asn222fs Single submitter cone-rod dystrophy 13
p.Asn222Ter Single submitter Leber congenital amaurosis 6
p.Asp415fs Single submitter cone-rod dystrophy 13
p.Cys665Ter Single submitter cone-rod dystrophy 13
p.Gln105Ter Single submitter cone-rod dystrophy 13
p.Gln1204Ter Single submitter cone-rod dystrophy 13
p.Gln120Ter Single submitter Leber congenital amaurosis 6
p.Gln407Ter Single submitter cone-rod dystrophy 13
p.Gln408fs Single submitter cone-rod dystrophy 13
p.Gln437Ter Single submitter Leber congenital amaurosis 6
p.Gln644Ter Single submitter cone-rod dystrophy 13
p.Gln763Ter Single submitter RPGRIP1-related disorder
p.Glu1155Ter Single submitter Leber congenital amaurosis 6
p.Glu285delinsGlyArgValProAlaIleAlaGlyAlaArgArgHisAlaTer Single submitter cone-rod dystrophy 13
p.Glu299fs Single submitter Leber congenital amaurosis 6
p.Glu404Ter Single submitter RPGRIP1-related disorder
p.Glu455fs Single submitter cone-rod dystrophy 13
p.Glu541Ter Single submitter
p.His873fs Single submitter Leber congenital amaurosis 6
p.Ile1171fs Single submitter cone-rod dystrophy 13
p.Ile1243fs Single submitter Leber congenital amaurosis 6
p.Ile226fs Single submitter
p.Ile572fs Single submitter Leber congenital amaurosis 6
p.Leu382Ter Single submitter cone-rod dystrophy 13
p.Leu675fs Single submitter cone-rod dystrophy 13
p.Leu811His Single submitter cone dystrophy
p.Lys521fs Single submitter cone-rod dystrophy 13
p.Lys770fs Single submitter cone-rod dystrophy 13
p.Met58fs Single submitter cone-rod dystrophy 13
p.Phe1148fs Single submitter Leber congenital amaurosis 6
p.Pro1032fs Single submitter Leber congenital amaurosis 6
p.Pro174fs Single submitter cone-rod dystrophy 13
p.Pro667fs Single submitter cone-rod dystrophy 13
p.Pro672fs Single submitter cone-rod dystrophy 13
p.Ser1098fs Single submitter RPGRIP1-related disorder
p.Ser256Ter Single submitter cone-rod dystrophy 13
p.Ser269_Ile270insTer Single submitter cone-rod dystrophy 13
p.Ser964fs Single submitter Leber congenital amaurosis
p.Ser970_Pro971insTer Single submitter Leber congenital amaurosis 6
p.Ser9fs Single submitter cone-rod dystrophy 13
p.Thr1156_Glu1157insTer Single submitter Leber congenital amaurosis 6
p.Thr652Ala Single submitter cone-rod dystrophy 13
p.Tyr1037Ter Single submitter Leber congenital amaurosis 6
p.Tyr750Cys Single submitter RPGRIP1-related disorder
p.Tyr929fs Single submitter cone-rod dystrophy 13
p.Val131fs Single submitter cone-rod dystrophy 13
p.Val300fs Single submitter cone-rod dystrophy 13
p.Val364fs Single submitter cone-rod dystrophy 13
c.(1151+1_1152-1 No assertion criteria inherited retinal dystrophy
c.2895+1G>A No assertion criteria Leber congenital amaurosis 6
c.3339+2477_3533-151del No assertion criteria Leber congenital amaurosis 6
c.(930+1_931-1 No assertion criteria Leber congenital amaurosis 6
p.Gln1204fs No assertion criteria Leber congenital amaurosis 6
p.Gln786Ter No assertion criteria Leber congenital amaurosis 6
p.Glu696Ter No assertion criteria Leber congenital amaurosis 6
p.His631Leu No assertion criteria Leber congenital amaurosis 6
p.Trp65Ter No assertion criteria Leber congenital amaurosis
p.Tyr1143fs No assertion criteria Leber congenital amaurosis 6
p.Tyr171fs No assertion criteria Leber congenital amaurosis 6
p.Tyr378Ter No assertion criteria Leber congenital amaurosis 6
p.Val747fs No assertion criteria Leber congenital amaurosis 6

Pathogenic/Likely pathogenic 27

c.1467+1G>A Multiple submitters Leber congenital amaurosis 6
c.1468-2A>G Multiple submitters Leber congenital amaurosis
c.2368-2A>G Multiple submitters Leber congenital amaurosis
c.3617+1G>T Multiple submitters Leber congenital amaurosis 6
c.3618-1_3621del Multiple submitters cone-rod dystrophy 13
c.800+1G>A Multiple submitters Leber congenital amaurosis 1
p.Arg278fs Multiple submitters cone-rod dystrophy 13
p.Arg52Ter Multiple submitters RPGRIP1-related disorder
p.Arg598Ter Multiple submitters RPGRIP1-related disorder
p.Arg814fs Multiple submitters RPGRIP1-related disorder
p.Arg888Ter Multiple submitters Leber congenital amaurosis 6
p.Asn549fs Multiple submitters cone-rod dystrophy 13
p.Asn907Ter Multiple submitters cone-rod dystrophy 13
p.Asp11fs Multiple submitters cone-rod dystrophy 13
p.Gln623Ter Multiple submitters cone-rod dystrophy 13
p.Gln673Ter Multiple submitters cone-rod dystrophy 13
p.Glu539fs Multiple submitters cone-rod dystrophy 13
p.Glu800Lys Multiple submitters Leber congenital amaurosis 6 ⚠
p.Gly746Arg Multiple submitters Leber congenital amaurosis 6
p.His225fs Multiple submitters cone-rod dystrophy 13
p.His631Arg Multiple submitters cone-rod dystrophy 13 ⚠
p.Lys1221fs Multiple submitters cone-rod dystrophy 13
p.Lys273Ter Multiple submitters Leber congenital amaurosis 6
p.Lys993fs Multiple submitters Leber congenital amaurosis
p.Pro932_Glu933insTer Multiple submitters Leber congenital amaurosis 6
p.Ser202fs Multiple submitters cone-rod dystrophy 13
p.Trp925Ter Multiple submitters Leber congenital amaurosis

Likely pathogenic 67

c.218+1G>T Multiple submitters cone-rod dystrophy 13
c.86-1G>A Multiple submitters Leber congenital amaurosis 6
c.931-2A>G Multiple submitters cone-rod dystrophy 13
p.Pro674His Multiple submitters cone-rod dystrophy 13
c.1611+27G>A Single submitter Leber congenital amaurosis 6
c.1612-2A>G Single submitter Leber congenital amaurosis 6
c.1763-1del Single submitter RPGRIP1-related disorder
c.1763-2A>G Single submitter Leber congenital amaurosis 6
c.219-2A>G Single submitter cone-rod dystrophy 13
c.2215+2T>C Single submitter Leber congenital amaurosis 6
c.2216-1G>A Single submitter cone-rod dystrophy 13
c.2367+82A>G Single submitter Leber congenital amaurosis
c.2710+1G>A Single submitter cone-rod dystrophy 13
c.2896delG Single submitter cone-rod dystrophy 13
c.3339+5G>A Single submitter Leber congenital amaurosis
c.3533-2A>G Single submitter cone-rod dystrophy 13
c.801-2A>G Single submitter RPGRIP1-related disorder
c.906+1G>A Single submitter RPGRIP1-related disorder
c.930+2T>C Single submitter cone-rod dystrophy 13
p.Arg138fs Single submitter Leber congenital amaurosis 6
p.Arg15fs Single submitter RPGRIP1-related disorder
p.Arg163fs Single submitter Leber congenital amaurosis 6
p.Arg286_Asn287insTer Single submitter RPGRIP1-related disorder
p.Arg827Leu Single submitter inherited retinal dystrophy
p.Asn1046Ter Single submitter RPGRIP1-related disorder
p.Asp592fs Single submitter RPGRIP1-related disorder
p.Asp924fs Single submitter RPGRIP1-related disorder
p.Cys720Ter Single submitter RPGRIP1-related disorder
p.Gln1034Arg Single submitter RPGRIP1-related disorder ⚠
p.Gln117Ter Single submitter cone-rod dystrophy 13
p.Gln1186Ter Single submitter RPGRIP1-related disorder
p.Gln301Ter Single submitter RPGRIP1-related disorder
p.Gln412fs Single submitter RPGRIP1-related disorder
p.Glu1033Ter Single submitter RPGRIP1-related disorder
p.Glu1137Ter Single submitter RPGRIP1-related disorder
p.Glu1218Ter Single submitter RPGRIP1-related disorder
p.Glu258Ter Single submitter Leber congenital amaurosis 6
p.Glu744Ter Single submitter RPGRIP1-related disorder
p.Glu796fs Single submitter Leber congenital amaurosis 6
p.Glu881fs Single submitter
p.Glu996fs Single submitter Leber congenital amaurosis 6
p.Gly1199fs Single submitter RPGRIP1-related disorder
p.Gly990fs Single submitter RPGRIP1-related disorder
p.Ile1120fs Single submitter RPGRIP1-related disorder
p.Leu1207Ter Single submitter Leber congenital amaurosis
p.Leu508Ter Single submitter RPGRIP1-related disorder
p.Leu528fs Single submitter Leber congenital amaurosis 6
p.Leu737fs Single submitter RPGRIP1-related disorder
p.Lys959fs Single submitter Leber congenital amaurosis 6
p.Pro650Ser Single submitter inherited retinal dystrophy
p.Pro820His Single submitter RPGRIP1-related disorder
p.Thr606fs Single submitter RPGRIP1-related disorder
p.Trp109Ter Single submitter Leber congenital amaurosis 6
p.Trp802Ter Single submitter RPGRIP1-related disorder
p.Tyr846fs Single submitter RPGRIP1-related disorder
p.Val481fs Single submitter RPGRIP1-related disorder
p.Val857fs Single submitter inherited retinal dystrophy
c.1152-1749_1763-1241del No assertion criteria Leber congenital amaurosis
c.(3099+1_3100-1 No assertion criteria inherited retinal dystrophy
c.903_906+17del No assertion criteria Leber congenital amaurosis 6
p.Glu45fs No assertion criteria inherited retinal dystrophy
p.Gly1227Arg No assertion criteria Leber congenital amaurosis 6
p.Gly746Glu No assertion criteria Leber congenital amaurosis 6
p.Leu482Ter No assertion criteria inherited retinal dystrophy
p.Pro174Arg No assertion criteria Leber congenital amaurosis 6 ⚠
p.Trp1040Ter No assertion criteria Leber congenital amaurosis
p.Val670fs No assertion criteria inherited retinal dystrophy

Conflicting classifications of pathogenicity 74

c.1078-17G>T Single submitter cone-rod dystrophy 13
c.1078-1G>A Single submitter
c.1078-9C>A Single submitter Leber congenital amaurosis 6
c.1612-3C>A Single submitter cone-rod dystrophy
c.1762+1G>T Single submitter cone-rod dystrophy 13
c.218+13C>G Single submitter cone-rod dystrophy 13
c.218+6T>C Single submitter cone-rod dystrophy 13
c.2367+23del Single submitter inherited retinal dystrophy
c.2710+11G>A Single submitter cone-rod dystrophy 13
c.3100-1G>A Single submitter cone-rod dystrophy 13
c.3239-14C>T Single submitter cone-rod dystrophy 13
c.3239-15C>G Single submitter cone-rod dystrophy 13
c.3239-16A>G Single submitter cone-rod dystrophy 13
c.3340-3C>G Single submitter RPGRIP1-related disorder
c.3533-4A>G Single submitter cone-rod dystrophy 13
c.3618-4T>G Single submitter Leber congenital amaurosis 6
c.3749-2A>G Single submitter Leber congenital amaurosis 6
c.491-3T>C Single submitter Leber congenital amaurosis 6
c.906+2T>G Single submitter cone-rod dystrophy
c.930+3A>G Single submitter Leber congenital amaurosis 6
p.Ala181Gly Single submitter Inborn genetic diseases ⚠
p.Ala303Thr Single submitter cone-rod dystrophy 13 ⚠
p.Ala640= Single submitter Leber congenital amaurosis 6
p.Ala960Pro Single submitter Leber congenital amaurosis 6 ⚠
p.Arg1191Trp Single submitter Inborn genetic diseases ⚠
p.Arg267Gln Single submitter Leber congenital amaurosis 6 ⚠
p.Arg700Gln Single submitter Inborn genetic diseases ⚠
p.Arg812Gln Single submitter cone-rod dystrophy 13 ⚠
p.Arg852Gln Single submitter optic atrophy ⚠
p.Arg890Gln Single submitter inherited retinal dystrophy ⚠
p.Arg89Gln Single submitter Inborn genetic diseases ⚠
p.Asn1138= Single submitter Leber congenital amaurosis 6
p.Asn399= Single submitter cone-rod dystrophy 13
p.Asn766Ser Single submitter Inborn genetic diseases ⚠
p.Asp1150Tyr Single submitter cone-rod dystrophy 13
p.Asp778= Single submitter cone-rod dystrophy 13
p.Asp778Asn Single submitter Inborn genetic diseases ⚠
p.Gln261= Single submitter cone-rod dystrophy 13
p.Gln412= Single submitter Leber congenital amaurosis 6
p.Gln467= Single submitter cone-rod dystrophy 13
p.Gln589His Single submitter inherited retinal dystrophy
p.Gln850= Single submitter cone-rod dystrophy 13
p.Glu1058Lys Single submitter Inborn genetic diseases ⚠
p.Glu400= Single submitter cone-rod dystrophy 13
p.Gly10Glu Single submitter cone-rod dystrophy 13 ⚠
p.Gly126Arg Single submitter Inborn genetic diseases ⚠
p.Gly671Glu Single submitter Leber congenital amaurosis 1 ⚠
p.His1057= Single submitter Leber congenital amaurosis 6
p.His1057Leu Single submitter cone-rod dystrophy 13 ⚠
p.His1172= Single submitter cone-rod dystrophy 13
p.His692= Single submitter Leber congenital amaurosis 6
p.Ile1120Val Single submitter inherited retinal dystrophy ⚠
p.Ile17Thr Single submitter cone-rod dystrophy 13 ⚠
p.Ile270Val Single submitter Leber congenital amaurosis 6 ⚠
p.Ile872Val Single submitter Inborn genetic diseases ⚠
p.Leu282= Single submitter cone-rod dystrophy 13
p.Leu482Phe Single submitter Leber congenital amaurosis 6 ⚠
p.Met220Val Single submitter cone-rod dystrophy 13 ⚠
p.Met32Lys Single submitter Leber congenital amaurosis 6 ⚠
p.Pro1074Ser Single submitter cone-rod dystrophy 13 ⚠
p.Pro25Leu Single submitter cone-rod dystrophy 13 ⚠
p.Pro585Ser Single submitter inherited retinal dystrophy ⚠
p.Pro599Leu Single submitter cone-rod dystrophy 13 ⚠
p.Pro674Ser Single submitter retinitis pigmentosa ⚠
p.Pro882Ser Single submitter cone-rod dystrophy 13 ⚠
p.Ser587= Single submitter cone-rod dystrophy 13
p.Ser688Leu Single submitter cone-rod dystrophy 13 ⚠
p.Ser792= Single submitter Leber congenital amaurosis 6
p.Thr909Ala Single submitter Leber congenital amaurosis 6 ⚠
p.Tyr304= Single submitter cone-rod dystrophy 13
p.Tyr823Cys Single submitter Leber congenital amaurosis 6 ⚠
p.Val1013Ile Single submitter Inborn genetic diseases ⚠
p.Val1265fs Single submitter Leber congenital amaurosis 6
p.Val90Ile Single submitter cone dystrophy ⚠

Benign 46

c.1152-65G>A Multiple submitters Leber congenital amaurosis 6
c.1306+203T>C Multiple submitters
c.1612-90A>T Multiple submitters
c.1763-66C>T Multiple submitters
c.3099+31T>C Multiple submitters
c.3340-77A>G Multiple submitters
c.3617+154A>G Multiple submitters
c.587+171G>A Multiple submitters
c.587+277T>C Multiple submitters
c.800+164G>T Multiple submitters
c.907-25AAT[3] Multiple submitters cone-rod dystrophy 13
c.930+26T>C Multiple submitters
p.Lys192Glu Multiple submitters cone-rod dystrophy 13
p.Pro175= Multiple submitters cone-rod dystrophy 13
p.Pro599= Multiple submitters cone-rod dystrophy 13
p.Pro96Gln Multiple submitters cone-rod dystrophy 13
c.1077+187T>C Single submitter
c.1151+200del Single submitter
c.1468-326A>T Single submitter
c.1612-185C>T Single submitter
c.1612-219G>A Single submitter
c.1762+297T>A Single submitter
c.218+40_218+53del Single submitter
c.218+44_218+53del Single submitter
c.218+45_218+53del Single submitter
c.218+46_218+53del Single submitter
c.218+47_218+53del Single submitter
c.3099+243G>A Single submitter
c.3239-185A>T Single submitter
c.3532+243G>C Single submitter
c.3533-199C>G Single submitter
c.3617+191TTAT[8] Single submitter
c.3618-118G>A Single submitter
c.3618-279T>C Single submitter
c.3749-202G>T Single submitter
c.3749-218_3749-216del Single submitter
c.3749-221_3749-220insGAT Single submitter
c.490+23dup Single submitter cone-rod dystrophy 13
c.491-144del Single submitter
c.587+272del Single submitter
c.588-155C>T Single submitter
c.800+220G>A Single submitter
c.800+251C>T Single submitter
c.86-265T>C Single submitter
c.907-155G>A Single submitter
c.931-278AATA[5] Single submitter

Benign/Likely benign 21

c.2215+7G>A Multiple submitters Leber congenital amaurosis 6
c.3340-15C>T Multiple submitters cone-rod dystrophy 13
c.3748+17dup Multiple submitters cone-rod dystrophy 13
c.3749-6C>A Multiple submitters cone-rod dystrophy 13
c.490+11A>C Multiple submitters Leber congenital amaurosis 6
c.86-20A>T Multiple submitters Leber congenital amaurosis 6
c.*10T>C Multiple submitters cone-rod dystrophy 13
p.Ala547Ser Multiple submitters inherited retinal dystrophy
p.Ala764= Multiple submitters cone-rod dystrophy 13
p.Arg598Gln Multiple submitters cone-rod dystrophy 13
p.Arg86Trp Multiple submitters cone-rod dystrophy 13
p.Asp1114Gly Multiple submitters inherited retinal dystrophy
p.Asp1182= Multiple submitters cone-rod dystrophy 13
p.Glu1033Gln Multiple submitters Leber congenital amaurosis 6
p.Gly1240Glu Multiple submitters Leber congenital amaurosis 6
p.Leu150= Multiple submitters Leber congenital amaurosis 6
p.Leu279= Multiple submitters cone-rod dystrophy 13
p.Thr679= Multiple submitters cone-rod dystrophy 13
p.Thr806Ile Multiple submitters cone-rod dystrophy 13
p.Tyr1149= Multiple submitters Leber congenital amaurosis 6
p.Tyr864= Multiple submitters Leber congenital amaurosis 6

Likely benign 331

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

c.1078-11A>G Multiple submitters Leber congenital amaurosis 6
c.1151+50T>G Multiple submitters
c.1307-18T>G Multiple submitters cone-rod dystrophy 13
c.1468-15C>T Multiple submitters cone-rod dystrophy 13
c.1612-16C>T Multiple submitters Leber congenital amaurosis 6
c.219-4A>G Multiple submitters cone-rod dystrophy 13
c.2215+10G>A Multiple submitters Leber congenital amaurosis 6
c.2215+9C>T Multiple submitters cone-rod dystrophy 13
c.2367+16T>C Multiple submitters Leber congenital amaurosis 6
c.2367+19C>T Multiple submitters cone-rod dystrophy 13
c.2710+10C>T Multiple submitters cone-rod dystrophy 13
c.2710+7G>C Multiple submitters Leber congenital amaurosis 6
c.2711-13G>T Multiple submitters Leber congenital amaurosis 6
c.3339+12G>A Multiple submitters Leber congenital amaurosis 6
c.3340-19T>C Multiple submitters Leber congenital amaurosis 6
c.3617+16C>G Multiple submitters cone-rod dystrophy 13
c.3749-16T>C Multiple submitters cone-rod dystrophy 13
c.587+19T>C Multiple submitters cone-rod dystrophy 13
c.801-14G>A Multiple submitters cone-rod dystrophy 13
c.85+11C>T Multiple submitters Leber congenital amaurosis 6
c.85+12G>A Multiple submitters cone-rod dystrophy 13
c.906+15_906+17del Multiple submitters cone-rod dystrophy 13
c.930+12G>T Multiple submitters cone-rod dystrophy 13
p.Ala181= Multiple submitters cone-rod dystrophy 13
p.Ala403= Multiple submitters cone-rod dystrophy 13
p.Ala969= Multiple submitters cone-rod dystrophy 13
p.Arg138= Multiple submitters cone-rod dystrophy 13
p.Arg54= Multiple submitters Leber congenital amaurosis 6
p.Arg700= Multiple submitters Leber congenital amaurosis 6
p.Arg867Trp Multiple submitters cone-rod dystrophy 13 ⚠
p.Asn506= Multiple submitters Leber congenital amaurosis 6
p.Asn533= Multiple submitters cone-rod dystrophy 13
p.Asn799= Multiple submitters cone-rod dystrophy 13
p.Asn843= Multiple submitters cone-rod dystrophy 13
p.Gln125= Multiple submitters cone-rod dystrophy 13
p.Gln496= Multiple submitters Leber congenital amaurosis 6
p.Glu236= Multiple submitters cone-rod dystrophy 13
p.Gly313= Multiple submitters cone-rod dystrophy 13
p.His582= Multiple submitters Leber congenital amaurosis 6
p.Ile1260= Multiple submitters cone-rod dystrophy 13
p.Ile488= Multiple submitters cone-rod dystrophy 13
p.Leu113= Multiple submitters cone-rod dystrophy 13
p.Leu1193= Multiple submitters cone-rod dystrophy 13
p.Leu218= Multiple submitters cone-rod dystrophy 13
p.Leu297= Multiple submitters cone-rod dystrophy 13
p.Leu367= Multiple submitters cone-rod dystrophy 13
p.Leu429= Multiple submitters cone-rod dystrophy 13
p.Leu517= Multiple submitters cone-rod dystrophy 13
p.Leu526= Multiple submitters cone-rod dystrophy 13
p.Leu564= Multiple submitters Leber congenital amaurosis 6
p.Leu567= Multiple submitters cone-rod dystrophy 13
p.Leu575= Multiple submitters cone-rod dystrophy 13
p.Leu630= Multiple submitters cone-rod dystrophy 13
p.Lys983= Multiple submitters cone-rod dystrophy 13
p.Phe1175= Multiple submitters cone-rod dystrophy 13
p.Phe745= Multiple submitters cone-rod dystrophy 13
p.Pro158= Multiple submitters Leber congenital amaurosis 6
p.Pro822= Multiple submitters Leber congenital amaurosis 6
p.Ser176= Multiple submitters Leber congenital amaurosis 6
p.Ser198= Multiple submitters Leber congenital amaurosis 6
p.Ser432Phe Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ser813= Multiple submitters cone-rod dystrophy 13
p.Thr736= Multiple submitters Leber congenital amaurosis 6
p.Thr830= Multiple submitters Leber congenital amaurosis 6
p.Tyr536= Multiple submitters cone-rod dystrophy 13
p.Tyr826= Multiple submitters cone-rod dystrophy 13
c.1077+19A>T Single submitter cone-rod dystrophy 13
c.1078-16C>T Single submitter cone-rod dystrophy 13
c.1078-17G>A Single submitter Leber congenital amaurosis 6
c.1078-5C>G Single submitter cone-rod dystrophy 13
c.1151+12A>G Single submitter Leber congenital amaurosis 6
c.1151+14T>G Single submitter Leber congenital amaurosis 6
c.1151+18G>A Single submitter Leber congenital amaurosis 6
c.1151+19T>A Single submitter Leber congenital amaurosis 6
c.1152-8A>G Single submitter Leber congenital amaurosis 6
c.1152-96G>A Single submitter
c.1306+19A>G Single submitter Leber congenital amaurosis 6
c.1307-9T>G Single submitter cone-rod dystrophy 13
c.1467+11C>G Single submitter cone-rod dystrophy 13
c.1467+7G>C Single submitter Leber congenital amaurosis 6
c.1467+8C>A Single submitter
c.1468-14G>A Single submitter Leber congenital amaurosis 6
c.1468-15C>A Single submitter Leber congenital amaurosis 6
c.1468-16G>A Single submitter Leber congenital amaurosis 6
c.1468-17T>C Single submitter cone-rod dystrophy 13
c.1468-6C>T Single submitter Leber congenital amaurosis 6
c.1468-8C>T Single submitter Leber congenital amaurosis 6
c.1611+13A>T Single submitter Leber congenital amaurosis 6
c.1611+43C>T Single submitter
c.1763-13C>A Single submitter cone-rod dystrophy 13
c.1763-7C>T Single submitter Leber congenital amaurosis 6
c.1763-8C>G Single submitter cone-rod dystrophy 13
c.1763-8C>T Single submitter Leber congenital amaurosis 6
c.218+16C>T Single submitter cone-rod dystrophy 13
c.218+19A>T Single submitter
c.218+43_218+53del Single submitter
c.218+51_218+53dup Single submitter
c.218+7dup Single submitter Leber congenital amaurosis 6
c.218+9A>G Single submitter cone-rod dystrophy 13
c.219-16C>A Single submitter Leber congenital amaurosis 6
c.219-16C>T Single submitter Leber congenital amaurosis 6
c.219-17G>T Single submitter cone-rod dystrophy 13
c.2215+8C>T Single submitter cone-rod dystrophy 13
c.2216-10T>C Single submitter Leber congenital amaurosis 6
c.2216-11C>G Single submitter cone-rod dystrophy 13
c.2216-13T>G Single submitter Leber congenital amaurosis 6
c.2216-15C>T Single submitter Leber congenital amaurosis 6
c.2216-5C>T Single submitter
c.2367+20G>A Single submitter Leber congenital amaurosis 6
c.2367+22G>A Single submitter
c.2368-15C>G Single submitter Leber congenital amaurosis 6
c.2710+12A>T Single submitter cone-rod dystrophy 13
c.2896-12C>G Single submitter Leber congenital amaurosis 6
c.3099+18C>A Single submitter Leber congenital amaurosis 6
c.3099+7C>T Single submitter
c.3238+17T>A Single submitter cone-rod dystrophy 13
c.3238+28dup Single submitter
c.3239-16A>T Single submitter Leber congenital amaurosis 6
c.3239-17A>C Single submitter cone-rod dystrophy 13
c.3239-17A>T Single submitter cone-rod dystrophy 13
c.3339+15G>A Single submitter cone-rod dystrophy 13
c.3339+9A>G Single submitter Leber congenital amaurosis 6
c.3532+8_3532+10del Single submitter Leber congenital amaurosis 6
c.3532+8A>C Single submitter cone-rod dystrophy 13
c.3533-18C>T Single submitter cone-rod dystrophy 13
c.3533-9T>G Single submitter Leber congenital amaurosis 6
c.3617+18A>G Single submitter Leber congenital amaurosis 6
c.3618-18A>C Single submitter Leber congenital amaurosis 6
c.3618-5T>C Single submitter Leber congenital amaurosis 6
c.3748+11T>A Single submitter cone-rod dystrophy 13
c.3748+16T>C Single submitter Leber congenital amaurosis 6
c.3748+17T>C Single submitter Leber congenital amaurosis 6
c.3748+8del Single submitter Leber congenital amaurosis 6
c.3749-12dup Single submitter cone-rod dystrophy 13
c.3749-14C>T Single submitter Leber congenital amaurosis 6
c.3749-6C>T Single submitter Leber congenital amaurosis 6
c.3749-8C>T Single submitter Leber congenital amaurosis 6
c.490+14C>T Single submitter cone-rod dystrophy 13
c.490+18A>G Single submitter Leber congenital amaurosis 6
c.490+20C>T Single submitter cone-rod dystrophy 13
c.491-10A>G Single submitter Leber congenital amaurosis 6
c.587+13C>T Single submitter Leber congenital amaurosis 6
c.587+18A>G Single submitter cone-rod dystrophy 13
c.588-16T>C Single submitter cone-rod dystrophy 13
c.588-17A>G Single submitter
c.800+15C>T Single submitter Leber congenital amaurosis 6
c.800+19_800+22dup Single submitter Leber congenital amaurosis 6
c.801-15C>T Single submitter cone-rod dystrophy 13
c.85+12G>T Single submitter cone-rod dystrophy 13
c.85+14del Single submitter Leber congenital amaurosis 6
c.85+20A>T Single submitter cone-rod dystrophy 13
c.86-7A>G Single submitter Leber congenital amaurosis 6
c.906+14A>G Single submitter Leber congenital amaurosis 6
c.907-7del Single submitter Leber congenital amaurosis 6
c.930+15T>C Single submitter cone-rod dystrophy 13
c.931-18A>C Single submitter cone-rod dystrophy 13
c.931-4C>T Single submitter Leber congenital amaurosis 6
p.Ala101Thr Single submitter Inborn genetic diseases
p.Ala1167= Single submitter Leber congenital amaurosis 6
p.Ala1229= Single submitter Leber congenital amaurosis 6
p.Ala139= Single submitter cone-rod dystrophy 13
p.Ala153= Single submitter cone-rod dystrophy 13
p.Ala173= Single submitter Leber congenital amaurosis 6
p.Ala264= Single submitter Leber congenital amaurosis 6
p.Ala321= Single submitter Leber congenital amaurosis 6
p.Ala331= Single submitter Leber congenital amaurosis 6
p.Ala635= Single submitter Leber congenital amaurosis 6
p.Ala641= Single submitter
p.Ala645= Single submitter Leber congenital amaurosis 6
p.Ala697= Single submitter Leber congenital amaurosis 6
p.Ala716= Single submitter cone-rod dystrophy 13
p.Ala771= Single submitter cone-rod dystrophy 13
p.Ala841= Single submitter Leber congenital amaurosis 6
p.Arg1166= Single submitter
p.Arg1191= Single submitter Leber congenital amaurosis 6
p.Arg1262= Single submitter
p.Arg166= Single submitter Leber congenital amaurosis 6
p.Arg433= Single submitter cone-rod dystrophy 13
p.Arg471= Single submitter Leber congenital amaurosis 6
p.Arg523= Single submitter Leber congenital amaurosis 6
p.Arg530= Single submitter cone-rod dystrophy 13
p.Arg80= Single submitter cone-rod dystrophy 13
p.Arg814= Single submitter cone-rod dystrophy 13
p.Arg89= Single submitter cone-rod dystrophy 13
p.Asn1017= Single submitter
p.Asn1025= Single submitter Leber congenital amaurosis 6
p.Asn549= Single submitter cone-rod dystrophy 13
p.Asn551= Single submitter cone-rod dystrophy 13
p.Asn916= Single submitter Leber congenital amaurosis 6
p.Asp1080= Single submitter cone-rod dystrophy 13
p.Asp1150= Single submitter Leber congenital amaurosis 6
p.Asp18= Single submitter cone-rod dystrophy 13
p.Asp248= Single submitter cone-rod dystrophy 13
p.Asp550= Single submitter Leber congenital amaurosis 6
p.Asp617= Single submitter Leber congenital amaurosis 6
p.Asp647= Single submitter Leber congenital amaurosis 6
p.Asp69= Single submitter Leber congenital amaurosis 6
p.Asp833= Single submitter cone-rod dystrophy 13
p.Cys808Trp Single submitter Anophthalmia-microphthalmia syndrome
p.Gln1056= Single submitter cone-rod dystrophy 13
p.Gln1246= Single submitter Leber congenital amaurosis 6
p.Gln140= Single submitter Leber congenital amaurosis 6
p.Gln149= Single submitter cone-rod dystrophy 13
p.Gln409= Single submitter cone-rod dystrophy 13
p.Gln416= Single submitter cone-rod dystrophy 13
p.Gln472= Single submitter cone-rod dystrophy 13
p.Gln673= Single submitter cone-rod dystrophy 13
p.Gln763= Single submitter Leber congenital amaurosis 6
p.Glu1020= Single submitter cone-rod dystrophy 13
p.Glu1060= Single submitter cone-rod dystrophy 13
p.Glu1238= Single submitter cone-rod dystrophy 13
p.Glu252= Single submitter Leber congenital amaurosis 6
p.Glu320= Single submitter Leber congenital amaurosis 6
p.Glu430= Single submitter cone-rod dystrophy 13
p.Glu457= Single submitter
p.Glu47= Single submitter cone-rod dystrophy 13
p.Glu484= Single submitter Leber congenital amaurosis 6
p.Glu787= Single submitter cone-rod dystrophy 13
p.Glu796= Single submitter cone-rod dystrophy 13
p.Glu800= Single submitter Leber congenital amaurosis 6
p.Glu900= Single submitter Leber congenital amaurosis 6
p.Glu958= Single submitter Leber congenital amaurosis 6
p.Gly1052= Single submitter Leber congenital amaurosis 6
p.Gly1199= Single submitter cone-rod dystrophy 13
p.Gly164= Single submitter cone-rod dystrophy 13
p.Gly741= Single submitter Leber congenital amaurosis 6
p.Gly746= Single submitter
p.Gly944= Single submitter Leber congenital amaurosis 6
p.His1007= Single submitter cone-rod dystrophy 13
p.His478= Single submitter Leber congenital amaurosis 6
p.His512= Single submitter
p.His633= Single submitter cone-rod dystrophy 13
p.His704= Single submitter cone-rod dystrophy 13
p.Ile1171= Single submitter Leber congenital amaurosis 6
p.Ile226= Single submitter cone-rod dystrophy 13
p.Ile527= Single submitter cone-rod dystrophy 13
p.Ile838= Single submitter Leber congenital amaurosis 6
p.Ile902= Single submitter Leber congenital amaurosis 6
p.Leu1125= Single submitter Leber congenital amaurosis 6
p.Leu1151= Single submitter cone-rod dystrophy 13
p.Leu1162= Single submitter cone-rod dystrophy 13
p.Leu1216= Single submitter Leber congenital amaurosis 6
p.Leu1256= Single submitter cone-rod dystrophy 13
p.Leu1284= Single submitter cone-rod dystrophy 13
p.Leu257= Single submitter cone-rod dystrophy 13
p.Leu290= Single submitter Leber congenital amaurosis 6
p.Leu308= Single submitter cone-rod dystrophy 13
p.Leu329= Single submitter cone-rod dystrophy 13
p.Leu4= Single submitter Leber congenital amaurosis 6
p.Leu401= Single submitter Leber congenital amaurosis 6
p.Leu413= Single submitter Leber congenital amaurosis 6
p.Leu46= Single submitter cone-rod dystrophy 13
p.Leu508= Single submitter Leber congenital amaurosis 6
p.Leu600= Single submitter Leber congenital amaurosis 6
p.Leu620= Single submitter Leber congenital amaurosis 6
p.Leu63= Single submitter cone-rod dystrophy 13
p.Leu637= Single submitter Leber congenital amaurosis 6
p.Leu668= Single submitter
p.Leu734= Single submitter cone-rod dystrophy 13
p.Leu737= Single submitter Leber congenital amaurosis 6
p.Leu74= Single submitter cone-rod dystrophy 13
p.Leu754= Single submitter cone-rod dystrophy 13
p.Leu762= Single submitter Leber congenital amaurosis 6
p.Leu816= Single submitter cone-rod dystrophy 13
p.Leu886= Single submitter Leber congenital amaurosis 6
p.Lys1112= Single submitter Leber congenital amaurosis 6
p.Lys1140= Single submitter cone-rod dystrophy 13
p.Lys273= Single submitter Leber congenital amaurosis 6
p.Lys33= Single submitter Leber congenital amaurosis 6
p.Lys369= Single submitter Leber congenital amaurosis 6
p.Lys442= Single submitter Leber congenital amaurosis 6
p.Lys500= Single submitter Leber congenital amaurosis 6
p.Lys769= Single submitter Leber congenital amaurosis 6
p.Lys943= Single submitter cone-rod dystrophy 13
p.Lys959= Single submitter cone-rod dystrophy 13
p.Phe1194= Single submitter Leber congenital amaurosis 6
p.Phe51= Single submitter cone-rod dystrophy 13
p.Phe628= Single submitter Leber congenital amaurosis 6
p.Pro1104= Single submitter cone-rod dystrophy 13
p.Pro1215= Single submitter Leber congenital amaurosis 6
p.Pro13= Single submitter Leber congenital amaurosis 6
p.Pro156= Single submitter Leber congenital amaurosis 6
p.Pro215= Single submitter cone-rod dystrophy 13
p.Pro25= Single submitter Leber congenital amaurosis 6
p.Pro37= Single submitter Leber congenital amaurosis 6
p.Pro37His Single submitter Inborn genetic diseases
p.Pro395= Single submitter cone-rod dystrophy 13
p.Pro490= Single submitter cone-rod dystrophy 13
p.Pro757= Single submitter Leber congenital amaurosis 6
p.Pro760= Single submitter Leber congenital amaurosis 6
p.Pro928= Single submitter cone-rod dystrophy 13
p.Ser1047= Single submitter
p.Ser1107= Single submitter Leber congenital amaurosis 6
p.Ser1154= Single submitter Leber congenital amaurosis 6
p.Ser1252= Single submitter
p.Ser135= Single submitter Leber congenital amaurosis 6
p.Ser208= Single submitter Leber congenital amaurosis 6
p.Ser289= Single submitter cone-rod dystrophy 13
p.Ser432= Single submitter Leber congenital amaurosis 6
p.Ser502= Single submitter Leber congenital amaurosis 6

Uncertain significance 578

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

c.1078-4T>G Multiple submitters cone-rod dystrophy 13
c.1306+3A>G Multiple submitters cone-rod dystrophy 13
c.3238+5T>A Multiple submitters Leber congenital amaurosis 6
p.Ala107del Multiple submitters Leber congenital amaurosis 6
p.Ala1126Val Multiple submitters Inborn genetic diseases ⚠
p.Ala224Val Multiple submitters cone-rod dystrophy 13 ⚠
p.Ala228Val Multiple submitters Inborn genetic diseases ⚠
p.Ala263Ser Multiple submitters cone-rod dystrophy 13 ⚠
p.Ala26Val Multiple submitters cone-rod dystrophy 13 ⚠
p.Ala318Val Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ala403Val Multiple submitters Inborn genetic diseases ⚠
p.Ala480Gly Multiple submitters cone-rod dystrophy 13 ⚠
p.Ala513Ser Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ala513Thr Multiple submitters cone-rod dystrophy 13 ⚠
p.Ala635Gly Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ala641Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala764Val Multiple submitters cone-rod dystrophy 13 ⚠
p.Ala837Gly Multiple submitters cone-rod dystrophy 13 ⚠
p.Ala889Thr Multiple submitters cone-rod dystrophy 13 ⚠
p.Ala960Ser Multiple submitters cone-rod dystrophy 13 ⚠
p.Ala960Thr Multiple submitters Leber congenital amaurosis 6 ⚠
p.Arg110Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1189Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg118His Multiple submitters cone-rod dystrophy 13 ⚠
p.Arg1190Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg142Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg267Leu Multiple submitters
p.Arg43Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg52Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg530Cys Multiple submitters Leber congenital amaurosis 6 ⚠
p.Arg54His Multiple submitters cone-rod dystrophy 13 ⚠
p.Arg563Gln Multiple submitters Leber congenital amaurosis 6 ⚠
p.Arg571Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg700Trp Multiple submitters cone-rod dystrophy 13 ⚠
p.Arg755Cys Multiple submitters cone-rod dystrophy 13 ⚠
p.Arg755His Multiple submitters cone-rod dystrophy 13 ⚠
p.Arg783Gln Multiple submitters Leber congenital amaurosis 6 ⚠
p.Arg812Trp Multiple submitters cone-rod dystrophy 13 ⚠
p.Arg814Gln Multiple submitters Leber congenital amaurosis 6 ⚠
p.Arg814Leu Multiple submitters cone-rod dystrophy 13 ⚠
p.Arg814Pro Multiple submitters cone-rod dystrophy 13 ⚠
p.Arg827His Multiple submitters cone-rod dystrophy 13 ⚠
p.Arg867Gln Multiple submitters cone-rod dystrophy 13 ⚠
p.Arg888Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg981Gln Multiple submitters cone-rod dystrophy 13 ⚠
p.Asn533Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asn626Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn626Tyr Multiple submitters Leber congenital amaurosis 6 ⚠
p.Asn843Asp Multiple submitters cone-rod dystrophy 13 ⚠
p.Asp1150Asn Multiple submitters Leber congenital amaurosis 6 ⚠
p.Asp1150Glu Multiple submitters cone-rod dystrophy 13
p.Asp1217Asn Multiple submitters Leber congenital amaurosis 6 ⚠
p.Asp1242Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp835Gly Multiple submitters Leber congenital amaurosis 6
p.Cys535Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys765Tyr Multiple submitters Leber congenital amaurosis 6 ⚠
p.Cys809Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln309Arg Multiple submitters cone-rod dystrophy 13 ⚠
p.Gln309Glu Multiple submitters cone-rod dystrophy 13 ⚠
p.Gln409Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln649Lys Multiple submitters cone-rod dystrophy 13 ⚠
p.Gln695Arg Multiple submitters Leber congenital amaurosis 6 ⚠
p.Gln695Lys Multiple submitters cone-rod dystrophy 13 ⚠
p.Gln998Arg Multiple submitters cone-rod dystrophy 13 ⚠
p.Glu1169Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu1185Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1218Lys Multiple submitters cone-rod dystrophy 13 ⚠
p.Glu1254Lys Multiple submitters cone-rod dystrophy 13 ⚠
p.Glu1279del Multiple submitters inherited retinal dystrophy
p.Glu188= Multiple submitters cone-rod dystrophy 13
p.Glu299Lys Multiple submitters cone-rod dystrophy 13 ⚠
p.Glu305Lys Multiple submitters cone-rod dystrophy 13 ⚠
p.Glu368Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu518Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu55Lys Multiple submitters Leber congenital amaurosis 6 ⚠
p.Glu576Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu796Asp Multiple submitters Leber congenital amaurosis 6 ⚠
p.Glu800Gln Multiple submitters Leber congenital amaurosis 6 ⚠
p.Glu804Lys Multiple submitters cone-rod dystrophy 13 ⚠
p.Glu878Lys Multiple submitters Leber congenital amaurosis 6 ⚠
p.Glu957Lys Multiple submitters Leber congenital amaurosis 6 ⚠
p.Glu99Gln Multiple submitters Leber congenital amaurosis 6 ⚠
p.Gly1012Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly104Arg Multiple submitters Leber congenital amaurosis 6 ⚠
p.Gly1087Val Multiple submitters Inborn genetic diseases ⚠
p.Gly108Arg Multiple submitters Leber congenital amaurosis 6 ⚠
p.Gly313Glu Multiple submitters cone-rod dystrophy 13 ⚠
p.Gly817Arg Multiple submitters cone-rod dystrophy 13
p.Gly917Arg Multiple submitters cone-rod dystrophy 13 ⚠
p.His1274Arg Multiple submitters cone-rod dystrophy 13 ⚠
p.His129Arg Multiple submitters cone-rod dystrophy 13 ⚠
p.His129Leu Multiple submitters Inborn genetic diseases ⚠
p.His180Arg Multiple submitters Inborn genetic diseases ⚠
p.His664Arg Multiple submitters cone-rod dystrophy 13 ⚠
p.His692Arg Multiple submitters Leber congenital amaurosis 6 ⚠
p.His873Arg Multiple submitters cone-rod dystrophy 13 ⚠
p.His873Asp Multiple submitters Inborn genetic diseases ⚠
p.His988Arg Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ile1120Leu Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ile1171Thr Multiple submitters cone-rod dystrophy 13 ⚠
p.Ile1260Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile488Met Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ile738Val Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ile838Val Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ile839Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1022Phe Multiple submitters Leber congenital amaurosis 6 ⚠
p.Leu1075Val Multiple submitters cone-rod dystrophy 13 ⚠
p.Leu1216Pro Multiple submitters ⚠
p.Leu322Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu323del Multiple submitters cone-rod dystrophy 13
p.Leu323Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu323Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu353Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu46Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu517Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu517Trp Multiple submitters ⚠
p.Lys1278Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys280Asn Multiple submitters cone-rod dystrophy 13 ⚠
p.Lys338Glu Multiple submitters Leber congenital amaurosis 6 ⚠
p.Lys369Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys442Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys591Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys898Arg Multiple submitters Leber congenital amaurosis 6 ⚠
p.Lys898Glu Multiple submitters Leber congenital amaurosis 6 ⚠
p.Lys983Met Multiple submitters Inborn genetic diseases ⚠
p.Met1019Ile Multiple submitters Inborn genetic diseases ⚠
p.Met1106Thr Multiple submitters Leber congenital amaurosis 6 ⚠
p.Met1134_Ser1135delinsIle Multiple submitters cone-rod dystrophy 13
p.Met525Val Multiple submitters cone-rod dystrophy 13
p.Met968Val Multiple submitters Inborn genetic diseases ⚠
p.Phe1148Leu Multiple submitters Leber congenital amaurosis 6 ⚠
p.Phe853Val Multiple submitters Inborn genetic diseases ⚠
p.Pro1074Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro1152Ser Multiple submitters Leber congenital amaurosis 6 ⚠
p.Pro1215Leu Multiple submitters cone-rod dystrophy 13
p.Pro174Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro650Arg Multiple submitters cone-rod dystrophy 13 ⚠
p.Pro797Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro932Ala Multiple submitters cone-rod dystrophy 13 ⚠
p.Pro987Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser1083Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser1084Phe Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ser1091Arg Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ser1124Pro Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ser114Pro Multiple submitters cone-rod dystrophy 13 ⚠
p.Ser1154Trp Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ser170Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser391Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser39Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser581Gly Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ser601Trp Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ser955Phe Multiple submitters Leber congenital amaurosis 6 ⚠
p.Ter1287Arg Multiple submitters Leber congenital amaurosis 6
p.Thr1258Ile Multiple submitters Leber congenital amaurosis 6 ⚠
p.Thr477Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr82Ile Multiple submitters Leber congenital amaurosis 6 ⚠
p.Thr836Asn Multiple submitters Leber congenital amaurosis 6 ⚠
p.Tyr1143Cys Multiple submitters cone-rod dystrophy 13 ⚠
p.Tyr1228Cys Multiple submitters Leber congenital amaurosis 6 ⚠
p.Tyr595Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr659Cys Multiple submitters cone-rod dystrophy 13 ⚠
p.Val1272Ile Multiple submitters Leber congenital amaurosis 6 ⚠
p.Val143Ile Multiple submitters Inborn genetic diseases ⚠
p.Val683Met Multiple submitters Inborn genetic diseases ⚠
p.Val874Ile Multiple submitters Leber congenital amaurosis 6 ⚠
p.Val973Ile Multiple submitters Leber congenital amaurosis 6 ⚠
c.1077+13A>G Single submitter cone-rod dystrophy 13
c.1077+3A>G Single submitter Leber congenital amaurosis 6
c.2215+5G>C Single submitter
c.2215+6T>C Single submitter cone-rod dystrophy 13
c.2216-15C>G Single submitter cone-rod dystrophy 13
c.2710+3G>T Single submitter
c.2711-3C>T Single submitter Leber congenital amaurosis 6
c.2895+3A>G Single submitter Leber congenital amaurosis 6
c.3099+2dup Single submitter Leber congenital amaurosis 6
c.3100-3A>G Single submitter cone-rod dystrophy 13
c.3238+3A>G Single submitter Joubert syndrome 7
c.3238+4T>C Single submitter Leber congenital amaurosis 6
c.3238+5T>C Single submitter Leber congenital amaurosis 6
c.3533-6A>G Single submitter
c.3748+1G>A Single submitter
c.490+3G>A Single submitter cone-rod dystrophy 13
c.490+6A>T Single submitter Leber congenital amaurosis 6
c.491-11T>A Single submitter
c.491-3del Single submitter cone-rod dystrophy 13
c.85+5C>A Single submitter
c.907-1G>C Single submitter
c.930+4C>T Single submitter Leber congenital amaurosis 6
c.930+6T>G Single submitter
c.931-3C>G Single submitter Leber congenital amaurosis 6
c.*44T>C Single submitter Leber congenital amaurosis 6
c.*76A>G Single submitter cone-rod dystrophy 13
c.*81A>G Single submitter cone-rod dystrophy 13
p.548DN[1] Single submitter
p.Ala107Glu Single submitter Leber congenital amaurosis 6 ⚠
p.Ala1131Ser Single submitter Inborn genetic diseases ⚠
p.Ala1229Gly Single submitter ⚠
p.Ala1275Thr Single submitter Leber congenital amaurosis 6 ⚠
p.Ala139Pro Single submitter Leber congenital amaurosis 6 ⚠
p.Ala139Ser Single submitter Inborn genetic diseases ⚠
p.Ala139Thr Single submitter Leber congenital amaurosis 6 ⚠
p.Ala139Val Single submitter cone-rod dystrophy 13 ⚠
p.Ala153Gly Single submitter Leber congenital amaurosis 6 ⚠
p.Ala173Asp Single submitter cone-rod dystrophy 13 ⚠
p.Ala190Asp Single submitter Inborn genetic diseases ⚠
p.Ala268Thr Single submitter Inborn genetic diseases ⚠
p.Ala317Val Single submitter Leber congenital amaurosis 6 ⚠
p.Ala318Gly Single submitter cone-rod dystrophy 13 ⚠
p.Ala321Asp Single submitter Inborn genetic diseases ⚠
p.Ala340Ser Single submitter cone-rod dystrophy 13 ⚠
p.Ala635Asp Single submitter Leber congenital amaurosis 6 ⚠
p.Ala635Thr Single submitter Leber congenital amaurosis 6
p.Ala640Val Single submitter Leber congenital amaurosis 6 ⚠
p.Ala735Ser Single submitter Leber congenital amaurosis 6 ⚠
p.Ala764Thr Single submitter Inborn genetic diseases ⚠
p.Ala851Thr Single submitter cone-rod dystrophy 13 ⚠
p.Ala940Pro Single submitter cone-rod dystrophy 13 ⚠
p.Ala977Val Single submitter Leber congenital amaurosis 6 ⚠
p.Arg1005Ile Single submitter Inborn genetic diseases
p.Arg1010Ile Single submitter cone-rod dystrophy 13 ⚠
p.Arg103Pro Single submitter Inborn genetic diseases ⚠
p.Arg112His Single submitter Leber congenital amaurosis 6 ⚠
p.Arg1166Gly Single submitter Inborn genetic diseases ⚠
p.Arg118Ser Single submitter Leber congenital amaurosis 6 ⚠
p.Arg1262Ser Single submitter cone-rod dystrophy 13 ⚠
p.Arg137His Single submitter Inborn genetic diseases ⚠
p.Arg138Ser Single submitter Inborn genetic diseases ⚠
p.Arg168Ser Single submitter Inborn genetic diseases ⚠
p.Arg363Gly Single submitter
p.Arg43Gln Single submitter Leber congenital amaurosis 6 ⚠
p.Arg43Gly Single submitter cone-rod dystrophy 13 ⚠
p.Arg43Pro Single submitter
p.Arg523Ser Single submitter ⚠
p.Arg530His Single submitter ⚠
p.Arg54Cys Single submitter ⚠
p.Arg571Cys Single submitter Inborn genetic diseases
p.Arg571His Single submitter ⚠
p.Arg700Gly Single submitter cone-rod dystrophy 13 ⚠
p.Arg768Gln Single submitter Leber congenital amaurosis 6 ⚠
p.Arg783Trp Single submitter cone-rod dystrophy 13 ⚠
p.Arg80Gly Single submitter cone-rod dystrophy 13
p.Arg827Cys Single submitter Leber congenital amaurosis 6 ⚠
p.Arg888Leu Single submitter ⚠
p.Arg890Gly Single submitter ⚠
p.Arg890Pro Single submitter Bardet-Biedl syndrome
p.Asn1036Thr Single submitter cone-rod dystrophy 13 ⚠
p.Asn1046Ile Single submitter Leber congenital amaurosis 6 ⚠
p.Asn183Asp Single submitter Inborn genetic diseases ⚠
p.Asn185Asp Single submitter Inborn genetic diseases ⚠
p.Asn250Ser Single submitter Inborn genetic diseases ⚠
p.Asn287Ser Single submitter Leber congenital amaurosis 6 ⚠
p.Asn311Lys Single submitter cone-rod dystrophy 13 ⚠
p.Asn327Lys Single submitter ⚠
p.Asn327Ser Single submitter ⚠
p.Asn399Lys Single submitter Leber congenital amaurosis 6 ⚠
p.Asn447Ser Single submitter cone-rod dystrophy 13 ⚠
p.Asn461Ser Single submitter ⚠
p.Asn485Asp Single submitter ⚠
p.Asn533Asp Single submitter Inborn genetic diseases ⚠
p.Asn551Ser Single submitter Leber congenital amaurosis 6 ⚠
p.Asn799Asp Single submitter ⚠
p.Asn907Lys Single submitter Leber congenital amaurosis 6 ⚠
p.Asp1051Ala Single submitter cone-rod dystrophy 13 ⚠
p.Asp1051His Single submitter Leber congenital amaurosis 6 ⚠
p.Asp1097= Single submitter cone-rod dystrophy 13
p.Asp1097Asn Single submitter cone-rod dystrophy 13 ⚠
p.Asp1150His Single submitter Leber congenital amaurosis 6
p.Asp1180Gly Single submitter Leber congenital amaurosis 6 ⚠
p.Asp1182Val Single submitter Leber congenital amaurosis 6 ⚠
p.Asp1201Gly Single submitter Leber congenital amaurosis 6 ⚠
p.Asp1203Gly Single submitter Inborn genetic diseases ⚠
p.Asp1217Glu Single submitter Leber congenital amaurosis 6 ⚠
p.Asp1249Gly Single submitter ⚠
p.Asp1255Asn Single submitter Inborn genetic diseases ⚠
p.Asp248His Single submitter ⚠
p.Asp379Asn Single submitter cone-rod dystrophy 13 ⚠
p.Asp423Gly Single submitter cone-rod dystrophy 13 ⚠
p.Asp440Glu Single submitter Leber congenital amaurosis 6 ⚠
p.Asp548Asn Single submitter cone-rod dystrophy 13 ⚠
p.Asp553Gly Single submitter Inborn genetic diseases ⚠
p.Asp660Gly Single submitter ⚠
p.Asp660Tyr Single submitter Inborn genetic diseases
p.Asp687His Single submitter cone-rod dystrophy 13 ⚠
p.Asp69Val Single submitter Inborn genetic diseases ⚠
p.Asp778Glu Single submitter ⚠
p.Asp946Gly Single submitter ⚠
p.Cys535Tyr Single submitter
p.Cys720Tyr Single submitter Leber congenital amaurosis 6 ⚠
p.Gln1086Glu Single submitter ⚠
p.Gln1086Pro Single submitter cone-rod dystrophy 13 ⚠
p.Gln117Arg Single submitter Inborn genetic diseases ⚠
p.Gln1200Lys Single submitter Inborn genetic diseases ⚠
p.Gln1268Lys Single submitter ⚠
p.Gln144= Single submitter cone-rod dystrophy 13
p.Gln253Glu Single submitter Inborn genetic diseases ⚠
p.Gln312His Single submitter ⚠
p.Gln460Lys Single submitter cone-rod dystrophy 13 ⚠
p.Gln467His Single submitter Leber congenital amaurosis 6 ⚠
p.Gln483Lys Single submitter Leber congenital amaurosis 6 ⚠
p.Gln503Arg Single submitter Inborn genetic diseases ⚠