TULP1 — 877 ClinVar variants
All ClinVar germline TULP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 316 flagged for review →
68 Pathogenic · 23 Pathogenic/Likely pathogenic · 66 Likely pathogenic · 64 Conflicting · 16 Benign · 3 Benign/Likely benign · 310 Likely benign · 327 Uncertain significance
Full TULP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 316
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.
-
TULP1 p.Glu123Asp
Likely pathogenic
Single submitter
inherited retinal dystrophy
-
TULP1 p.Gly56Val
Likely pathogenic
Single submitter
TULP1-related disorder
-
TULP1 p.Lys274Asn
Likely pathogenic
Single submitter
inherited retinal dystrophy
Predictors agree, ClinVar conflicts 32
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TULP1 p.Ala245Glu
Conflicting
Single submitter
Inborn genetic diseases
-
TULP1 p.Ala245Thr
Conflicting
Single submitter
Inborn genetic diseases
-
TULP1 p.Ala496Thr
Conflicting
Single submitter
retinitis pigmentosa
-
TULP1 p.Arg182Gly
Conflicting
Single submitter
retinitis pigmentosa
-
TULP1 p.Arg311Gly
Conflicting
Single submitter
TULP1-related disorder
-
TULP1 p.Arg342Gln
Conflicting
Single submitter
TULP1-related disorder
-
TULP1 p.Arg361Gln
Conflicting
Single submitter
Leber congenital amaurosis 1
-
TULP1 p.Arg390His
Conflicting
Single submitter
retinitis pigmentosa
-
TULP1 p.Arg416Cys
Conflicting
Single submitter
inherited retinal dystrophy
-
TULP1 p.Arg419Gln
Conflicting
Single submitter
inherited retinal dystrophy
-
TULP1 p.Arg482Trp
Conflicting
Single submitter
TULP1-related disorder
-
TULP1 p.Arg4Gln
Conflicting
Single submitter
Inborn genetic diseases
-
TULP1 p.Arg508His
Conflicting
Single submitter
retinitis pigmentosa
-
TULP1 p.Asn395Asp
Conflicting
Single submitter
Inborn genetic diseases
-
TULP1 p.Asp124Glu
Conflicting
Single submitter
Inborn genetic diseases
-
TULP1 p.Asp355Asn
Conflicting
Single submitter
retinitis pigmentosa
-
TULP1 p.Asp383Glu
Conflicting
Single submitter
Leber congenital amaurosis 15
-
TULP1 p.Cys523Tyr
Conflicting
Single submitter
TULP1-related disorder
-
TULP1 p.Gln492Arg
Conflicting
Single submitter
Leber congenital amaurosis 15
-
TULP1 p.Glu117Lys
Conflicting
Single submitter
retinitis pigmentosa 14
- TULP1 p.Glu122Asp Conflicting Single submitter
-
TULP1 p.Gly266Val
Conflicting
Single submitter
inherited retinal dystrophy
-
TULP1 p.Gly363Arg
Conflicting
Single submitter
TULP1-related disorder
-
TULP1 p.Leu477Val
Conflicting
Single submitter
TULP1-related disorder
-
TULP1 p.Lys207Glu
Conflicting
Single submitter
Inborn genetic diseases
-
TULP1 p.Lys238Asn
Conflicting
Single submitter
Inborn genetic diseases
-
TULP1 p.Phe506Leu
Conflicting
Single submitter
Leber congenital amaurosis 15
-
TULP1 p.Pro388Gln
Conflicting
Single submitter
TULP1-related disorder
-
TULP1 p.Thr192Ile
Conflicting
Single submitter
Inborn genetic diseases
-
TULP1 p.Tyr321Asp
Conflicting
Single submitter
TULP1-related disorder
-
TULP1 p.Tyr324Ser
Conflicting
Single submitter
TULP1-related disorder
-
TULP1 p.Val181Leu
Conflicting
Single submitter
retinitis pigmentosa
Predictors lean, ClinVar uncertain 234
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 234
-
TULP1 p.Ala153Thr
Uncertain significance
Multiple submitters
Leber congenital amaurosis 15
-
TULP1 p.Ala216Val
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
TULP1 p.Ala221Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TULP1 p.Ala430Val Uncertain significance Multiple submitters
-
TULP1 p.Ala486Asp
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
TULP1 p.Ala496Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TULP1 p.Ala524Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TULP1 p.Ala83Glu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
TULP1 p.Arg159Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TULP1 p.Arg180His Uncertain significance Multiple submitters
-
TULP1 p.Arg246Ser
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
TULP1 p.Arg292Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
TULP1 p.Arg297Pro
Uncertain significance
Multiple submitters
retinitis pigmentosa
- TULP1 p.Arg303Cys Uncertain significance Multiple submitters
- TULP1 p.Arg30His Uncertain significance Multiple submitters
- TULP1 p.Arg30Ser Uncertain significance Multiple submitters
- TULP1 p.Arg318Gln Uncertain significance Multiple submitters
- TULP1 p.Arg318Leu Uncertain significance Multiple submitters
-
TULP1 p.Arg344Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TULP1 p.Arg420His Uncertain significance Multiple submitters
-
TULP1 p.Arg449Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TULP1 p.Arg508Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TULP1 p.Arg60Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TULP1 p.Arg9Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa
- TULP1 p.Asn384Asp Uncertain significance Multiple submitters
-
TULP1 p.Asp124Asn
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
TULP1 p.Asp154Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TULP1 p.Asp173His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TULP1 p.Asp206Asn Uncertain significance Multiple submitters
- TULP1 p.Asp355Val Uncertain significance Multiple submitters
-
TULP1 p.Gln85Arg
Uncertain significance
Multiple submitters
Leber congenital amaurosis 15
-
TULP1 p.Glu123Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TULP1 p.Glu125Gln Uncertain significance Multiple submitters
-
TULP1 p.Glu128Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TULP1 p.Gly240Asp
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
TULP1 p.Gly445Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TULP1 p.Gly507Ser Uncertain significance Multiple submitters
- TULP1 p.Gly507Val Uncertain significance Multiple submitters
-
TULP1 p.Gly63Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TULP1 p.Leu326Arg Uncertain significance Multiple submitters
-
TULP1 p.Leu359Arg
Uncertain significance
Multiple submitters
retinitis pigmentosa 14
- TULP1 p.Lys156Thr Uncertain significance Multiple submitters
- TULP1 p.Lys275Arg Uncertain significance Multiple submitters
- TULP1 p.Lys332Glu Uncertain significance Multiple submitters
-
TULP1 p.Lys99Arg
Uncertain significance
Multiple submitters
retinitis pigmentosa
- TULP1 p.Met421Leu Uncertain significance Multiple submitters
- TULP1 p.Phe535Leu Uncertain significance Multiple submitters
- TULP1 p.Pro174Arg Uncertain significance Multiple submitters
-
TULP1 p.Pro174Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TULP1 p.Pro175Ala Uncertain significance Multiple submitters
-
TULP1 p.Pro187Ser
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
TULP1 p.Pro284Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TULP1 p.Pro285Ala
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- TULP1 p.Pro436Ala Uncertain significance Multiple submitters
- TULP1 p.Pro499Ser Uncertain significance Multiple submitters
-
TULP1 p.Pro59Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TULP1 p.Pro62Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TULP1 p.Pro74Ala Uncertain significance Multiple submitters
-
TULP1 p.Ser212Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TULP1 p.Ser230Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TULP1 p.Ser51Phe Uncertain significance Multiple submitters
-
TULP1 p.Ser533Pro
Uncertain significance
Multiple submitters
retinitis pigmentosa
- TULP1 p.Ser534Gly Uncertain significance Multiple submitters
-
TULP1 p.Thr257Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TULP1 p.Thr330Met Uncertain significance Multiple submitters
-
TULP1 p.Thr357Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TULP1 p.Thr454Met
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- TULP1 p.Val483Ile Uncertain significance Multiple submitters
- TULP1 p.Ala114Thr Uncertain significance Single submitter
- TULP1 p.Ala160Thr Uncertain significance Single submitter
- TULP1 p.Ala216Gly Uncertain significance Single submitter
- TULP1 p.Ala222Thr Uncertain significance Single submitter
- TULP1 p.Ala245Ser Uncertain significance Single submitter
- TULP1 p.Ala245Val Uncertain significance Single submitter
-
TULP1 p.Ala281Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TULP1 p.Ala299Asp Uncertain significance Single submitter
- TULP1 p.Ala36Ser Uncertain significance Single submitter
-
TULP1 p.Ala442Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TULP1 p.Ala48Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TULP1 p.Ala48Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TULP1 p.Ala510Val
Uncertain significance
Single submitter
retinitis pigmentosa 14
-
TULP1 p.Ala513Pro
Uncertain significance
Single submitter
retinitis pigmentosa 14
- TULP1 p.Ala64Val Uncertain significance Single submitter
- TULP1 p.Ala79Asp Uncertain significance Single submitter
- TULP1 p.Ala83Val Uncertain significance Single submitter
-
TULP1 p.Ala97Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TULP1 p.Arg103Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- TULP1 p.Arg148Lys Uncertain significance Single submitter
- TULP1 p.Arg166Thr Uncertain significance Single submitter
- TULP1 p.Arg29Pro Uncertain significance Single submitter
-
TULP1 p.Arg29Trp
Uncertain significance
Single submitter
retinitis pigmentosa
-
TULP1 p.Arg306Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TULP1 p.Arg30Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TULP1 p.Arg30Leu Uncertain significance Single submitter
- TULP1 p.Arg318Pro Uncertain significance Single submitter
- TULP1 p.Arg344Trp Uncertain significance Single submitter
- TULP1 p.Arg371Lys Uncertain significance Single submitter
- TULP1 p.Arg378Gly Uncertain significance Single submitter
-
TULP1 p.Arg378Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TULP1 p.Arg400Pro Uncertain significance Single submitter
- TULP1 p.Arg420Leu Uncertain significance Single submitter
- TULP1 p.Arg434Gly Uncertain significance Single submitter
- TULP1 p.Arg440Gln Uncertain significance Single submitter
- TULP1 p.Arg449His Uncertain significance Single submitter
- TULP1 p.Arg45Ser Uncertain significance Single submitter
- TULP1 p.Arg4Leu Uncertain significance Single submitter
- TULP1 p.Arg4Trp Uncertain significance Single submitter
- TULP1 p.Arg508Ser Uncertain significance Single submitter
- TULP1 p.Arg519Trp Uncertain significance Single submitter
- TULP1 p.Arg60Trp Uncertain significance Single submitter
-
TULP1 p.Arg71Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- TULP1 p.Arg82Gln Uncertain significance Single submitter
-
TULP1 p.Arg90Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TULP1 p.Asn377Ser Uncertain significance Single submitter
- TULP1 p.Asn411Asp Uncertain significance Single submitter
- TULP1 p.Asn411Lys Uncertain significance Single submitter
- TULP1 p.Asn411Ser Uncertain significance Single submitter
- TULP1 p.Asn463Lys Uncertain significance Single submitter
- TULP1 p.Asn463Tyr Uncertain significance Single submitter
- TULP1 p.Asn469His Uncertain significance Single submitter
- TULP1 p.Asn478His Uncertain significance Single submitter
- TULP1 p.Asn478Lys Uncertain significance Single submitter
- TULP1 p.Asn478Ser Uncertain significance Single submitter
- TULP1 p.Asn490Ile Uncertain significance Single submitter
-
TULP1 p.Asp116Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- TULP1 p.Asp127Asn Uncertain significance Single submitter
- TULP1 p.Asp127Val Uncertain significance Single submitter
- TULP1 p.Asp168Val Uncertain significance Single submitter
-
TULP1 p.Asp289Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- TULP1 p.Asp317His Uncertain significance Single submitter
- TULP1 p.Asp329Asn Uncertain significance Single submitter
- TULP1 p.Asp355His Uncertain significance Single submitter
-
TULP1 p.Asp383His
Uncertain significance
Single submitter
inherited retinal dystrophy
- TULP1 p.Asp512Gly Uncertain significance Single submitter
- TULP1 p.Asp517His Uncertain significance Single submitter
- TULP1 p.Cys307Arg Uncertain significance Single submitter
- TULP1 p.Cys53Arg Uncertain significance Single submitter
-
TULP1 p.Gln264Arg
Uncertain significance
Single submitter
inherited retinal dystrophy
- TULP1 p.Gln389Arg Uncertain significance Single submitter
-
TULP1 p.Gln480His
Uncertain significance
Single submitter
Inborn genetic diseases
- TULP1 p.Gln492His Uncertain significance Single submitter
- TULP1 p.Gln505His Uncertain significance Single submitter
- TULP1 p.Glu125Lys Uncertain significance Single submitter
- TULP1 p.Glu133Gln Uncertain significance Single submitter
- TULP1 p.Glu157Asp Uncertain significance Single submitter
- TULP1 p.Glu19Lys Uncertain significance Single submitter
-
TULP1 p.Glu228Lys
Uncertain significance
Single submitter
retinitis pigmentosa
- TULP1 p.Glu431Ala Uncertain significance Single submitter
-
TULP1 p.Glu460Lys
Uncertain significance
Single submitter
inherited retinal dystrophy
-
TULP1 p.Glu542Lys
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 47
The independent predictors disagree with each other — read with care.
- TULP1 p.Ala405Thr Uncertain significance Multiple submitters
-
TULP1 p.Ala531Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TULP1 p.Arg180Cys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
TULP1 p.Arg308Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TULP1 p.Arg378His Uncertain significance Multiple submitters
-
TULP1 p.Arg438Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TULP1 p.Arg438Trp
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- TULP1 p.Asp470Asn Uncertain significance Multiple submitters
-
TULP1 p.Gln301Glu
Uncertain significance
Multiple submitters
Leber congenital amaurosis 15
- TULP1 p.Glu290Lys Uncertain significance Multiple submitters
-
TULP1 p.Gly302Ser
Uncertain significance
Multiple submitters
retinitis pigmentosa
- TULP1 p.His462Arg Uncertain significance Multiple submitters
-
TULP1 p.Pro2His
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
TULP1 p.Tyr501Phe
Uncertain significance
Multiple submitters
retinitis pigmentosa 14
- TULP1 p.Ala299Ser Uncertain significance Single submitter
- TULP1 p.Ala338Ser Uncertain significance Single submitter
-
TULP1 p.Ala510Thr
Uncertain significance
Single submitter
inherited retinal dystrophy
- TULP1 p.Arg308Trp Uncertain significance Single submitter
-
TULP1 p.Arg378Cys
Uncertain significance
Single submitter
inherited retinal dystrophy
- TULP1 p.Arg390Cys Uncertain significance Single submitter
- TULP1 p.Asn358Ser Uncertain significance Single submitter
-
TULP1 p.Asp444Asn
Conflicting
Single submitter
Inborn genetic diseases
-
TULP1 p.Asp536Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TULP1 p.Glu252Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TULP1 p.Glu287Lys Uncertain significance Single submitter
-
TULP1 p.Glu331Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TULP1 p.Glu433Lys
Conflicting
Single submitter
inherited retinal dystrophy
- TULP1 p.Gly319Ala Uncertain significance Single submitter
- TULP1 p.Gly368Ala Likely pathogenic Single submitter
- TULP1 p.His462Tyr Uncertain significance Single submitter
- TULP1 p.Ile407Asn Uncertain significance Single submitter
-
TULP1 p.Ile459Thr
Conflicting
Single submitter
TULP1-related disorder
-
TULP1 p.Leu403Val
Uncertain significance
Single submitter
retinitis pigmentosa 14
- TULP1 p.Leu447Met Uncertain significance Single submitter
- TULP1 p.Phe106Leu Uncertain significance Single submitter
- TULP1 p.Pro356Ser Uncertain significance Single submitter
-
TULP1 p.Ser429Arg
Uncertain significance
Single submitter
inherited retinal dystrophy
- TULP1 p.Ser51Tyr Uncertain significance Single submitter
-
TULP1 p.Thr380Ala
Likely pathogenic
Single submitter
inherited retinal dystrophy
- TULP1 p.Thr476Asn Uncertain significance Single submitter
- TULP1 p.Val11Met Uncertain significance Single submitter
- TULP1 p.Val503Leu Uncertain significance Single submitter
- TULP1 p.Val509Ala Uncertain significance Single submitter
-
TULP1 p.Arg306Cys
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
TULP1 p.Arg306His
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
TULP1 p.Arg434Lys
Pathogenic
No assertion criteria
retinitis pigmentosa
-
TULP1 p.Pro356Thr
Pathogenic
No assertion criteria
retinitis pigmentosa 14
All TULP1 variants
Pathogenic 68
- c.718+2T>C Multiple submitters TULP1-related disorder
- p.Arg34Ter Multiple submitters TULP1-related disorder
- p.Arg361Ter Multiple submitters retinitis pigmentosa 14
- p.Arg420Ser Multiple submitters TULP1-related disorder
- p.Arg440Ter Multiple submitters retinitis pigmentosa 14
- p.Arg482Gln Multiple submitters retinitis pigmentosa 14
- p.Gln163Ter Multiple submitters retinitis pigmentosa
- p.Gln301Ter Multiple submitters TULP1-related disorder
- p.Gln401Ter Multiple submitters inherited retinal dystrophy
- p.Gln80Ter Multiple submitters retinitis pigmentosa 14
- p.Glu125Ter Multiple submitters TULP1-related disorder
- p.Glu190Ter Multiple submitters Leber congenital amaurosis 15
- p.Gly63Ter Multiple submitters Leber congenital amaurosis 15
- p.Leu504fs Multiple submitters TULP1-related disorder
- p.Phe382Ser Multiple submitters inherited retinal dystrophy
- p.Pro242fs Multiple submitters
- p.Pro282fs Multiple submitters
- p.Ser210fs Multiple submitters retinitis pigmentosa 14
- p.Ser210Ter Multiple submitters retinitis pigmentosa 14
- c.1112+2T>G Single submitter Leber congenital amaurosis 15
- c.1495+2dup Single submitter Leber congenital amaurosis
- p.Arg103fs Single submitter
- p.Arg318Ter Single submitter
- p.Arg420Pro Single submitter retinitis pigmentosa 14
- p.Arg82fs Single submitter
- p.Asn463fs Single submitter
- p.Asp312fs Single submitter
- p.Cys53fs Single submitter
- p.Gln264Ter Single submitter Leber congenital amaurosis
- p.Gln389Ter Single submitter
- p.Gln451Ter Single submitter
- p.Gln505Ter Single submitter
- p.Gln80fs Single submitter
- p.Glu104fs Single submitter retinitis pigmentosa 14
- p.Glu123fs Single submitter
- p.Glu287Ter Single submitter
- p.Glu433Ter Single submitter
- p.Glu50fs Single submitter
- p.Gly244fs Single submitter
- p.Gly272fs Single submitter
- p.Gly385Arg Single submitter
- p.Gly391fs Single submitter
- p.Leu147fs Single submitter
- p.Leu328fs Single submitter
- p.Leu477_Thr484del Single submitter
- p.Lys198Ter Single submitter
- p.Lys261fs Single submitter
- p.Lys333fs Single submitter Leber congenital amaurosis
- p.Pro175fs Single submitter
- p.Pro176fs Single submitter Leber congenital amaurosis 1
- p.Pro521Thr Single submitter
- p.Ser152fs Single submitter retinitis pigmentosa 14
- p.Thr454fs Single submitter
- p.Trp450Ter Single submitter Leber congenital amaurosis
- p.Tyr321Cys Single submitter
- p.Tyr520Ter Single submitter
- p.Val226fs Single submitter
- c.1113-2A>G No assertion criteria inherited retinal dystrophy
- c.349+2T>C No assertion criteria inherited retinal dystrophy
- p.Ala529_Ile530insPheAla No assertion criteria Leber congenital amaurosis 15
- p.Arg361fs No assertion criteria Leber congenital amaurosis 15
- p.Arg434Lys No assertion criteria retinitis pigmentosa ⚠
- p.Glu278fs No assertion criteria Leber congenital amaurosis
- p.Glu402Ter No assertion criteria Leber congenital amaurosis 15
- p.Leu461fs No assertion criteria inherited retinal dystrophy
- p.Lys177Ter No assertion criteria Leber congenital amaurosis
- p.Lys265fs No assertion criteria Leber congenital amaurosis 15
- p.Pro356Thr No assertion criteria retinitis pigmentosa 14 ⚠
Pathogenic/Likely pathogenic 23
- c.1495+1G>A Multiple submitters TULP1-related disorder
- c.1496-6C>A Multiple submitters inherited retinal dystrophy
- c.99+1G>A Multiple submitters retinitis pigmentosa 14
- c.999+5G>C Multiple submitters TULP1-related disorder
- p.Arg311Gln Multiple submitters Leber congenital amaurosis
- p.Arg311Trp Multiple submitters Leber congenital amaurosis 1
- p.Arg342Ter Multiple submitters TULP1-related disorder
- p.Arg400Gln Multiple submitters TULP1-related disorder
- p.Arg400Trp Multiple submitters brachydactyly
- p.Arg419fs Multiple submitters TULP1-related disorder
- p.Arg419Trp Multiple submitters TULP1-related disorder
- p.Arg9Ter Multiple submitters TULP1-related disorder
- p.Asn349Lys Multiple submitters TULP1-related disorder
- p.Gln301fs Multiple submitters TULP1-related disorder
- p.Gln485fs Multiple submitters TULP1-related disorder
- p.Glu460Ter Multiple submitters TULP1-related disorder
- p.Gly368Trp Multiple submitters TULP1-related disorder
- p.Lys274fs Multiple submitters TULP1-related disorder
- p.Lys489Arg Multiple submitters TULP1-related disorder
- p.Phe491Leu Multiple submitters TULP1-related disorder
- p.Thr55fs Multiple submitters retinitis pigmentosa 14
- p.Val286fs Multiple submitters retinitis pigmentosa
- p.Val423Ala Multiple submitters retinitis pigmentosa
Likely pathogenic 66
- c.1112+1G>A Multiple submitters TULP1-related disorder
- p.Gly339Val Multiple submitters TULP1-related disorder
- p.Ile459Lys Multiple submitters Leber congenital amaurosis
- c.100-1G>T Single submitter
- c.1112+1G>C Single submitter retinitis pigmentosa 14
- c.1113-1G>T Single submitter retinitis pigmentosa 14
- c.1323+2T>C Single submitter TULP1-related disorder
- c.1495+5G>A Single submitter inherited retinal dystrophy
- c.183_190+70delinsA Single submitter
- c.48-1G>C Single submitter
- c.499+1G>A Single submitter
- c.499+1G>T Single submitter
- c.499+2T>C Single submitter
- c.602-24_602-2del Single submitter
- c.718+23G>A Single submitter
- c.719-1G>T Single submitter
- c.822+1G>A Single submitter retinitis pigmentosa 14
- c.822+1G>C Single submitter
- c.828+2_828+3del Single submitter
- c.999+5G>T Single submitter TULP1-related disorder
- p.Ala531Val Single submitter retinitis pigmentosa 14
- p.Ala81fs Single submitter Leber congenital amaurosis
- p.Arg311Pro Single submitter
- p.Arg416Leu Single submitter TULP1-related disorder
- p.Arg420Cys Single submitter Leber congenital amaurosis 15
- p.Arg482Leu Single submitter retinitis pigmentosa 14
- p.Asp383Gly Single submitter
- p.Cys53Ter Single submitter Leber congenital amaurosis 15
- p.Gln39Ter Single submitter TULP1-related disorder
- p.Glu123Asp Single submitter inherited retinal dystrophy ⚠
- p.Glu248fs Single submitter retinitis pigmentosa
- p.Glu290Ter Single submitter TULP1-related disorder
- p.Glu47Ter Single submitter Leber congenital amaurosis 15
- p.Gly270fs Single submitter retinitis pigmentosa 14
- p.Gly368Ala Single submitter ⚠
- p.Gly417Cys Single submitter TULP1-related disorder
- p.Gly56Val Single submitter TULP1-related disorder ⚠
- p.Ile139fs Single submitter retinitis pigmentosa
- p.Ile459fs Single submitter TULP1-related disorder
- p.Lys138fs Single submitter TULP1-related disorder
- p.Lys239fs Single submitter retinitis pigmentosa 14
- p.Lys274Asn Single submitter inherited retinal dystrophy ⚠
- p.Lys61fs Single submitter
- p.Met1Val Single submitter TULP1-related disorder
- p.Phe382Leu Single submitter
- p.Pro356fs Single submitter TULP1-related disorder
- p.Pro521Leu Single submitter
- p.Pro521Ser Single submitter inherited retinal dystrophy
- p.Pro84fs Single submitter TULP1-related disorder
- p.Ser51fs Single submitter TULP1-related disorder
- p.Thr310fs Single submitter TULP1-related disorder
- p.Thr380Ala Single submitter inherited retinal dystrophy ⚠
- p.Thr380Arg Single submitter
- p.Thr380Lys Single submitter
- p.Tyr321His Single submitter
- p.Tyr321Ter Single submitter retinitis pigmentosa 14
- p.Tyr520Cys Single submitter TULP1-related disorder
- p.Tyr520fs Single submitter retinitis pigmentosa 14
- p.Val305Ala Single submitter TULP1-related disorder
- p.Val412fs Single submitter TULP1-related disorder
- c.499+5G>T No assertion criteria inherited retinal dystrophy
- p.Asp517Gly No assertion criteria inherited retinal dystrophy
- p.Glu121Ter No assertion criteria retinitis pigmentosa
- p.Glu402Lys No assertion criteria Leber congenital amaurosis 15
- p.Gly368Arg No assertion criteria inherited retinal dystrophy
- p.Thr484Pro No assertion criteria inherited retinal dystrophy
Conflicting classifications of pathogenicity 64
- c.1112+8T>C Single submitter retinitis pigmentosa
- c.1113-9_1113delinsCATC Single submitter retinitis pigmentosa
- c.1224+8C>T Single submitter
- c.1323+9C>T Single submitter
- c.1324-20A>G Single submitter
- c.1496-1G>C Single submitter TULP1-related disorder
- c.190+6C>T Single submitter
- c.499+12G>C Single submitter retinitis pigmentosa
- c.823-4A>G Single submitter Leber congenital amaurosis 15
- c.823-8G>A Single submitter retinitis pigmentosa
- c.829-7C>G Single submitter
- c.99+12C>A Single submitter
- c.999+5G>A Single submitter inherited retinal dystrophy
- p.124DEE[1] Single submitter
- p.Ala109= Single submitter
- p.Ala245Glu Single submitter Inborn genetic diseases ⚠
- p.Ala245Thr Single submitter Inborn genetic diseases ⚠
- p.Ala430= Single submitter inherited retinal dystrophy
- p.Ala496Thr Single submitter retinitis pigmentosa ⚠
- p.Ala83= Single submitter retinitis pigmentosa
- p.Arg182Gly Single submitter retinitis pigmentosa ⚠
- p.Arg311Gly Single submitter TULP1-related disorder ⚠
- p.Arg342Gln Single submitter TULP1-related disorder ⚠
- p.Arg361Gln Single submitter Leber congenital amaurosis 1 ⚠
- p.Arg390His Single submitter retinitis pigmentosa ⚠
- p.Arg416Cys Single submitter inherited retinal dystrophy ⚠
- p.Arg419Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg482Trp Single submitter TULP1-related disorder ⚠
- p.Arg4Gln Single submitter Inborn genetic diseases ⚠
- p.Arg508His Single submitter retinitis pigmentosa ⚠
- p.Asn384= Single submitter retinitis pigmentosa
- p.Asn395Asp Single submitter Inborn genetic diseases ⚠
- p.Asn469= Single submitter inherited retinal dystrophy
- p.Asp124Glu Single submitter Inborn genetic diseases ⚠
- p.Asp355Asn Single submitter retinitis pigmentosa ⚠
- p.Asp383Glu Single submitter Leber congenital amaurosis 15 ⚠
- p.Asp444Asn Single submitter Inborn genetic diseases ⚠
- p.Cys523= Single submitter retinitis pigmentosa
- p.Cys523Tyr Single submitter TULP1-related disorder ⚠
- p.Gln492Arg Single submitter Leber congenital amaurosis 15 ⚠
- p.Glu117Lys Single submitter retinitis pigmentosa 14 ⚠
- p.Glu122Asp Single submitter ⚠
- p.Glu254del Single submitter inherited retinal dystrophy
- p.Glu433Lys Single submitter inherited retinal dystrophy ⚠
- p.Gly201= Single submitter Leber congenital amaurosis 15
- p.Gly266Val Single submitter inherited retinal dystrophy ⚠
- p.Gly363Arg Single submitter TULP1-related disorder ⚠
- p.Ile459Thr Single submitter TULP1-related disorder ⚠
- p.Leu3Pro Single submitter TULP1-related disorder
- p.Leu477Val Single submitter TULP1-related disorder ⚠
- p.Lys207Glu Single submitter Inborn genetic diseases ⚠
- p.Lys238Asn Single submitter Inborn genetic diseases ⚠
- p.Phe506Leu Single submitter Leber congenital amaurosis 15 ⚠
- p.Pro282= Single submitter Leber congenital amaurosis 15
- p.Pro388Gln Single submitter TULP1-related disorder ⚠
- p.Pro465Arg Single submitter retinitis pigmentosa 14
- p.Pro521= Single submitter retinitis pigmentosa
- p.Thr192Ile Single submitter Inborn genetic diseases ⚠
- p.Thr304= Single submitter inherited retinal dystrophy
- p.Thr422= Single submitter
- p.Tyr321Asp Single submitter TULP1-related disorder ⚠
- p.Tyr324Ser Single submitter TULP1-related disorder ⚠
- p.Val181Leu Single submitter retinitis pigmentosa ⚠
- p.Val305= Single submitter
Benign 16
- c.499+26C>T Multiple submitters retinitis pigmentosa 14
- c.823-17G>C Multiple submitters Leber congenital amaurosis 15
- c.99+18G>A Multiple submitters
- p.Ile259Thr Multiple submitters inherited retinal dystrophy
- p.Pro300= Multiple submitters
- c.100-10dup Single submitter
- c.1000-3del Single submitter
- c.1324-110C>G Single submitter
- c.191-15dup Single submitter
- c.47+15del Single submitter
- c.719-63G>A Single submitter
- c.99+154A>G Single submitter
- c.*268C>A Single submitter retinitis pigmentosa
- c.*318T>G Single submitter Leber congenital amaurosis 15
- p.Lys261Asn Single submitter
- p.Pro146Thr Single submitter
Benign/Likely benign 3
- p.Asp124_Glu131del Multiple submitters
- p.Leu447= Multiple submitters
- p.Val286Met Multiple submitters
Likely benign 310
Showing the top 300 by review status; the full set is in the sitemap.
- c.100-11C>T Multiple submitters
- c.1000-11C>G Multiple submitters
- c.1323+17C>T Multiple submitters
- c.1323+20_1323+34del Multiple submitters
- c.1324-9G>A Multiple submitters
- c.1496-20del Multiple submitters
- c.190+20C>T Multiple submitters
- c.191-16C>T Multiple submitters
- c.719-17T>A Multiple submitters
- c.719-7C>T Multiple submitters
- c.823-17G>A Multiple submitters
- c.823-6A>G Multiple submitters
- c.828+18G>A Multiple submitters
- c.999+11A>C Multiple submitters inherited retinal dystrophy
- c.999+14G>A Multiple submitters
- c.999+9_999+10dup Multiple submitters
- p.Ala111= Multiple submitters
- p.Ala205= Multiple submitters
- p.Ala216= Multiple submitters inherited retinal dystrophy
- p.Arg303= Multiple submitters
- p.Arg416= Multiple submitters
- p.Arg419= Multiple submitters
- p.Asn411= Multiple submitters
- p.Asp124= Multiple submitters
- p.Asp127= Multiple submitters
- p.Asp289= Multiple submitters
- p.Glu128= Multiple submitters
- p.Ile367= Multiple submitters
- p.Leu455= Multiple submitters
- p.Leu8= Multiple submitters inherited retinal dystrophy
- p.Lys193= Multiple submitters Inborn genetic diseases
- p.Phe106= Multiple submitters
- p.Phe506= Multiple submitters
- p.Pro143Ala Multiple submitters
- p.Pro176= Multiple submitters
- p.Pro426= Multiple submitters
- p.Pro74= Multiple submitters
- p.Ser210= Multiple submitters
- p.Thr330= Multiple submitters
- c.100-10C>T Single submitter
- c.100-12C>G Single submitter
- c.100-12C>T Single submitter
- c.100-14C>A Single submitter
- c.100-18_100-17del Single submitter
- c.1000-13C>G Single submitter
- c.1000-14C>T Single submitter
- c.1000-4C>T Single submitter
- c.1000-5C>T Single submitter
- c.1000-6C>T Single submitter
- c.1112+18G>C Single submitter
- c.1113-11C>G Single submitter
- c.1113-12C>T Single submitter
- c.1113-14_1113-12dup Single submitter
- c.1113-14T>C Single submitter
- c.1113-15C>G Single submitter
- c.1113-17C>T Single submitter
- c.1113-4G>T Single submitter
- c.1113-9T>C Single submitter
- c.1224+19C>T Single submitter
- c.1224+20C>A Single submitter
- c.1225-13G>A Single submitter
- c.1225-13G>C Single submitter
- c.1225-14T>C Single submitter
- c.1225-15_1225-14del Single submitter
- c.1225-16T>G Single submitter
- c.1225-17A>G Single submitter
- c.1225-18C>T Single submitter
- c.1225-19G>C Single submitter
- c.1225-9C>G Single submitter
- c.1323+10G>A Single submitter
- c.1323+12A>C Single submitter
- c.1323+12A>G Single submitter
- c.1323+13C>T Single submitter
- c.1324-19C>T Single submitter
- c.1324-6C>T Single submitter
- c.1324-7A>C Single submitter
- c.1495+17C>T Single submitter
- c.1495+20G>A Single submitter
- c.1495+20G>C Single submitter
- c.1495+8C>T Single submitter
- c.1496-14T>C Single submitter
- c.1496-15G>A Single submitter
- c.1496-17C>A Single submitter
- c.1496-17C>T Single submitter
- c.1496-18C>T Single submitter
- c.1496-20A>T Single submitter
- c.1496-4A>G Single submitter
- c.1496-5C>T Single submitter
- c.1496-8G>A Single submitter
- c.188_190+10dup Single submitter
- c.190+18C>A Single submitter
- c.190+7G>A Single submitter
- c.190+9G>A Single submitter
- c.191-10C>T Single submitter
- c.191-15C>T Single submitter
- c.191-17C>T Single submitter
- c.191-4T>C Single submitter
- c.191-5C>T Single submitter
- c.349+11G>T Single submitter
- c.349+7G>A Single submitter
- c.350-17A>G Single submitter
- c.350-19G>A Single submitter
- c.350-20T>C Single submitter
- c.350-6C>T Single submitter
- c.350-7C>T Single submitter
- c.47+10G>A Single submitter
- c.47+13C>T Single submitter
- c.47+15C>G Single submitter
- c.47+17G>A Single submitter
- c.47+20C>A Single submitter
- c.47+20C>T Single submitter
- c.47+9G>A Single submitter
- c.48-14T>C Single submitter
- c.48-18T>A Single submitter
- c.48-5C>T Single submitter
- c.48-6C>T Single submitter
- c.499+13_499+21del Single submitter
- c.499+14G>C Single submitter
- c.499+14G>T Single submitter
- c.499+20A>C Single submitter
- c.499+9T>G Single submitter
- c.500-18C>T Single submitter
- c.500-20C>A Single submitter
- c.500-8A>G Single submitter
- c.601+15G>C Single submitter
- c.601+7C>A Single submitter
- c.602-4G>A Single submitter
- c.602-6A>T Single submitter
- c.718+14G>A Single submitter
- c.718+15C>A Single submitter
- c.718+15C>T Single submitter
- c.719-12C>T Single submitter
- c.719-13C>A Single submitter
- c.719-15C>T Single submitter
- c.719-16C>T Single submitter
- c.719-17_719-16del Single submitter
- c.719-19T>C Single submitter
- c.719-5C>T Single submitter
- c.719-6G>A Single submitter
- c.719-8A>G Single submitter
- c.822+10C>A Single submitter
- c.822+13del Single submitter
- c.822+8C>T Single submitter
- c.822+9C>T Single submitter
- c.823-12C>T Single submitter
- c.823-14C>G Single submitter
- c.823-19C>T Single submitter
- c.823-8G>T Single submitter
- c.823-9C>T Single submitter
- c.828+10C>T Single submitter
- c.828+12T>A Single submitter
- c.828+14C>A Single submitter
- c.828+15C>T Single submitter
- c.828+16G>A Single submitter
- c.828+16G>T Single submitter
- c.828+17G>A Single submitter
- c.828+18del Single submitter
- c.828+20T>C Single submitter
- c.829-18C>T Single submitter
- c.829-5C>A Single submitter
- c.829-5C>T Single submitter
- c.829-7C>A Single submitter
- c.829-7C>T Single submitter
- c.829-9C>T Single submitter
- c.99+10C>G Single submitter
- c.99+11C>A Single submitter
- c.99+12C>T Single submitter
- c.99+20A>G Single submitter
- c.99+7C>T Single submitter
- c.99+9C>A Single submitter
- c.999+13A>G Single submitter
- c.999+14G>T Single submitter
- c.999+17A>G Single submitter
- c.999+18G>A Single submitter
- p.Ala13= Single submitter
- p.Ala153= Single submitter
- p.Ala186= Single submitter
- p.Ala188= Single submitter
- p.Ala214= Single submitter
- p.Ala245= Single submitter
- p.Ala281= Single submitter
- p.Ala404= Single submitter
- p.Ala48= Single submitter
- p.Ala486= Single submitter
- p.Ala496= Single submitter
- p.Ala510= Single submitter
- p.Ala524= Single submitter
- p.Ala531= Single submitter
- p.Ala89= Single submitter
- p.Arg100= Single submitter
- p.Arg158= Single submitter
- p.Arg30= Single submitter
- p.Arg311= Single submitter
- p.Arg318= Single submitter
- p.Arg344= Single submitter
- p.Arg378= Single submitter
- p.Arg40= Single submitter
- p.Arg42= Single submitter
- p.Arg434= Single submitter
- p.Arg519= Single submitter
- p.Arg66= Single submitter
- p.Arg90= Single submitter
- p.Asn349= Single submitter
- p.Asn432= Single submitter
- p.Asn452= Single submitter
- p.Asn478= Single submitter
- p.Asp101= Single submitter
- p.Asp113= Single submitter
- p.Asp154= Single submitter
- p.Asp173= Single submitter
- p.Asp383= Single submitter
- p.Asp444= Single submitter
- p.Asp500= Single submitter
- p.Asp536= Single submitter
- p.Gln39= Single submitter
- p.Gln401= Single submitter
- p.Glu10= Single submitter
- p.Glu115= Single submitter
- p.Glu119= Single submitter
- p.Glu122= Single submitter
- p.Glu204= Single submitter
- p.Glu21= Single submitter
- p.Glu254= Single submitter
- p.Glu287= Single submitter
- p.Glu511= Single submitter
- p.Glu542= Single submitter
- p.Glu72= Single submitter
- p.Glu73= Single submitter
- p.Gly170= Single submitter
- p.Gly211= Single submitter
- p.Gly240= Single submitter
- p.Gly244= Single submitter
- p.Gly417= Single submitter
- p.Gly445= Single submitter
- p.Gly481= Single submitter
- p.Gly65= Single submitter
- p.Gly68= Single submitter
- p.His327= Single submitter
- p.His495= Single submitter
- p.Ile530= Single submitter
- p.Leu141= Single submitter
- p.Leu155= Single submitter
- p.Leu225= Single submitter
- p.Leu236= Single submitter
- p.Leu296= Single submitter
- p.Leu3= Single submitter
- p.Leu326= Single submitter
- p.Leu337= Single submitter
- p.Leu370= Single submitter
- p.Leu374= Single submitter
- p.Leu477= Single submitter
- p.Leu504= Single submitter
- p.Leu516= Single submitter
- p.Leu522= Single submitter
- p.Leu525= Single submitter
- p.Leu539= Single submitter
- p.Lys271= Single submitter
- p.Lys314= Single submitter
- p.Lys346= Single submitter
- p.Phe379= Single submitter
- p.Phe415= Single submitter
- p.Phe528= Single submitter
- p.Phe91= Single submitter
- p.Pro102= Single submitter
- p.Pro172= Single submitter
- p.Pro175= Single submitter
- p.Pro2= Single submitter
- p.Pro209= Single submitter
- p.Pro28= Single submitter
- p.Pro285= Single submitter
- p.Pro291= Single submitter
- p.Pro322= Single submitter
- p.Pro35= Single submitter
- p.Pro37= Single submitter
- p.Pro466= Single submitter
- p.Pro49= Single submitter
- p.Pro499= Single submitter
- p.Pro59= Single submitter
- p.Pro62= Single submitter
- p.Pro70= Single submitter
- p.Pro70_Arg71= Single submitter
- p.Pro95= Single submitter
- p.Ser151= Single submitter
- p.Ser152= Single submitter
- p.Ser24= Single submitter
- p.Ser353= Single submitter
- p.Ser487= Single submitter
- p.Ser75= Single submitter
- p.Thr105= Single submitter
- p.Thr197= Single submitter
- p.Thr257= Single submitter
- p.Thr310= Single submitter
- p.Thr357= Single submitter
- p.Thr380= Single submitter
- p.Thr410= Single submitter
- p.Thr454= Single submitter
- p.Thr46= Single submitter
- p.Thr55= Single submitter
- p.Thr67Arg Single submitter
- p.Thr7= Single submitter
Uncertain significance 327
Showing the top 300 by review status; the full set is in the sitemap.
- c.1495+3G>A Multiple submitters retinitis pigmentosa
- c.360_362delGGA Multiple submitters inherited retinal dystrophy
- c.499+5G>C Multiple submitters
- c.719-7C>A Multiple submitters
- c.99+5G>A Multiple submitters
- p.124DEE[3] Multiple submitters
- p.Ala13Asp Multiple submitters
- p.Ala153Thr Multiple submitters Leber congenital amaurosis 15 ⚠
- p.Ala216Val Multiple submitters retinitis pigmentosa ⚠
- p.Ala221Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala276= Multiple submitters retinitis pigmentosa 14
- p.Ala405Thr Multiple submitters ⚠
- p.Ala430Val Multiple submitters ⚠
- p.Ala486Asp Multiple submitters inherited retinal dystrophy ⚠
- p.Ala496Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala524Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala531Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala83Glu Multiple submitters inherited retinal dystrophy ⚠
- p.Arg159Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg180Cys Multiple submitters inherited retinal dystrophy ⚠
- p.Arg180His Multiple submitters ⚠
- p.Arg246Ser Multiple submitters inherited retinal dystrophy ⚠
- p.Arg292Gln Multiple submitters retinitis pigmentosa ⚠
- p.Arg297Pro Multiple submitters retinitis pigmentosa ⚠
- p.Arg303Cys Multiple submitters ⚠
- p.Arg308Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg30His Multiple submitters ⚠
- p.Arg30Ser Multiple submitters ⚠
- p.Arg318Gln Multiple submitters ⚠
- p.Arg318Leu Multiple submitters ⚠
- p.Arg344Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg378His Multiple submitters ⚠
- p.Arg416His Multiple submitters Inborn genetic diseases
- p.Arg420His Multiple submitters ⚠
- p.Arg438Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg438Trp Multiple submitters inherited retinal dystrophy ⚠
- p.Arg449Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg508Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg60Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg9Gln Multiple submitters retinitis pigmentosa ⚠
- p.Asn384Asp Multiple submitters ⚠
- p.Asp124Asn Multiple submitters inherited retinal dystrophy ⚠
- p.Asp154Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp173His Multiple submitters Inborn genetic diseases ⚠
- p.Asp206Asn Multiple submitters ⚠
- p.Asp355Val Multiple submitters ⚠
- p.Asp470Asn Multiple submitters ⚠
- p.Gln301Glu Multiple submitters Leber congenital amaurosis 15 ⚠
- p.Gln85Arg Multiple submitters Leber congenital amaurosis 15 ⚠
- p.Glu10Gln Multiple submitters Inborn genetic diseases
- p.Glu123Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu125Gln Multiple submitters ⚠
- p.Glu128Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu290Lys Multiple submitters ⚠
- p.Gly240Asp Multiple submitters retinitis pigmentosa ⚠
- p.Gly302Ser Multiple submitters retinitis pigmentosa ⚠
- p.Gly445Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly507Ser Multiple submitters ⚠
- p.Gly507Val Multiple submitters ⚠
- p.Gly63Arg Multiple submitters Inborn genetic diseases ⚠
- p.His462Arg Multiple submitters ⚠
- p.Leu326Arg Multiple submitters ⚠
- p.Leu359Arg Multiple submitters retinitis pigmentosa 14 ⚠
- p.Lys156Thr Multiple submitters ⚠
- p.Lys275Arg Multiple submitters ⚠
- p.Lys332Glu Multiple submitters ⚠
- p.Lys99Arg Multiple submitters retinitis pigmentosa ⚠
- p.Met421Leu Multiple submitters ⚠
- p.Phe528fs Multiple submitters
- p.Phe535Leu Multiple submitters ⚠
- p.Pro174Arg Multiple submitters ⚠
- p.Pro174Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro175Ala Multiple submitters ⚠
- p.Pro187Ser Multiple submitters retinitis pigmentosa ⚠
- p.Pro284Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro285Ala Multiple submitters inherited retinal dystrophy ⚠
- p.Pro2His Multiple submitters retinitis pigmentosa ⚠
- p.Pro436Ala Multiple submitters ⚠
- p.Pro499Ser Multiple submitters ⚠
- p.Pro59Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro62Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro74Ala Multiple submitters ⚠
- p.Ser212Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser230Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser51Phe Multiple submitters ⚠
- p.Ser533Pro Multiple submitters retinitis pigmentosa ⚠
- p.Ser534Gly Multiple submitters ⚠
- p.Thr257Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr330Met Multiple submitters ⚠
- p.Thr357Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr454Met Multiple submitters inherited retinal dystrophy ⚠
- p.Tyr501Phe Multiple submitters retinitis pigmentosa 14 ⚠
- p.Tyr88Cys Multiple submitters Inborn genetic diseases
- p.Val483Ile Multiple submitters ⚠
- c.1224+20C>T Single submitter
- c.1224+3G>A Single submitter
- c.1323+4A>G Single submitter
- c.1495+6_1495+13del Single submitter
- c.1496-11T>G Single submitter
- c.1496-16C>A Single submitter
- c.191-11T>G Single submitter Leber congenital amaurosis 15
- c.47+3C>A Single submitter
- c.47+6G>A Single submitter
- c.48-3C>T Single submitter
- c.602-15C>T Single submitter
- c.602-7C>G Single submitter
- c.822+3T>C Single submitter
- c.823-3C>T Single submitter
- c.828+5G>T Single submitter
- c.828+6T>C Single submitter
- c.99+3A>G Single submitter
- c.*272C>G Single submitter retinitis pigmentosa
- c.*278C>T Single submitter Leber congenital amaurosis 15
- c.*305G>A Single submitter retinitis pigmentosa
- c.*31C>T Single submitter Leber congenital amaurosis 15
- p.Ala114Thr Single submitter ⚠
- p.Ala160Thr Single submitter ⚠
- p.Ala216Gly Single submitter ⚠
- p.Ala222Thr Single submitter ⚠
- p.Ala245Ser Single submitter ⚠
- p.Ala245Val Single submitter ⚠
- p.Ala281Val Single submitter Inborn genetic diseases ⚠
- p.Ala299Asp Single submitter ⚠
- p.Ala299Ser Single submitter ⚠
- p.Ala338Ser Single submitter ⚠
- p.Ala36Ser Single submitter ⚠
- p.Ala442Thr Single submitter Inborn genetic diseases ⚠
- p.Ala48Asp Single submitter Inborn genetic diseases ⚠
- p.Ala48Val Single submitter Inborn genetic diseases ⚠
- p.Ala510Thr Single submitter inherited retinal dystrophy ⚠
- p.Ala510Val Single submitter retinitis pigmentosa 14 ⚠
- p.Ala513Pro Single submitter retinitis pigmentosa 14 ⚠
- p.Ala64= Single submitter retinitis pigmentosa
- p.Ala64Val Single submitter ⚠
- p.Ala79Asp Single submitter ⚠
- p.Ala83Val Single submitter ⚠
- p.Ala97Thr Single submitter Inborn genetic diseases ⚠
- p.Arg103Trp Single submitter Inborn genetic diseases ⚠
- p.Arg148Lys Single submitter ⚠
- p.Arg166= Single submitter
- p.Arg166Thr Single submitter ⚠
- p.Arg29Pro Single submitter ⚠
- p.Arg29Trp Single submitter retinitis pigmentosa ⚠
- p.Arg306Gly Single submitter Inborn genetic diseases ⚠
- p.Arg308Trp Single submitter ⚠
- p.Arg30Cys Single submitter Inborn genetic diseases ⚠
- p.Arg30Leu Single submitter ⚠
- p.Arg318Gly Single submitter
- p.Arg318Pro Single submitter ⚠
- p.Arg34= Single submitter
- p.Arg344Trp Single submitter ⚠
- p.Arg371Lys Single submitter ⚠
- p.Arg378Cys Single submitter inherited retinal dystrophy ⚠
- p.Arg378Gly Single submitter ⚠
- p.Arg378Leu Single submitter Inborn genetic diseases ⚠
- p.Arg390Cys Single submitter ⚠
- p.Arg400Pro Single submitter ⚠
- p.Arg420Leu Single submitter ⚠
- p.Arg434Gly Single submitter ⚠
- p.Arg440Gln Single submitter ⚠
- p.Arg449His Single submitter ⚠
- p.Arg45Ser Single submitter ⚠
- p.Arg4Leu Single submitter ⚠
- p.Arg4Trp Single submitter ⚠
- p.Arg508Ser Single submitter ⚠
- p.Arg519Trp Single submitter ⚠
- p.Arg60Trp Single submitter ⚠
- p.Arg71Trp Single submitter Inborn genetic diseases ⚠
- p.Arg82Gln Single submitter ⚠
- p.Arg90Ser Single submitter Inborn genetic diseases ⚠
- p.Asn358Ser Single submitter ⚠
- p.Asn377Ser Single submitter ⚠
- p.Asn411Asp Single submitter ⚠
- p.Asn411Lys Single submitter ⚠
- p.Asn411Ser Single submitter ⚠
- p.Asn441= Single submitter
- p.Asn463del Single submitter
- p.Asn463Lys Single submitter ⚠
- p.Asn463Tyr Single submitter ⚠
- p.Asn469His Single submitter ⚠
- p.Asn478His Single submitter ⚠
- p.Asn478Lys Single submitter ⚠
- p.Asn478Ser Single submitter ⚠
- p.Asn490Ile Single submitter ⚠
- p.Asp116Glu Single submitter Inborn genetic diseases ⚠
- p.Asp127Asn Single submitter ⚠
- p.Asp127Val Single submitter ⚠
- p.Asp168Val Single submitter ⚠
- p.Asp289Glu Single submitter Inborn genetic diseases ⚠
- p.Asp317His Single submitter ⚠
- p.Asp329Asn Single submitter ⚠
- p.Asp355His Single submitter ⚠
- p.Asp383His Single submitter inherited retinal dystrophy ⚠
- p.Asp512Gly Single submitter ⚠
- p.Asp517His Single submitter ⚠
- p.Asp536Glu Single submitter Inborn genetic diseases ⚠
- p.Asp77_Pro78del Single submitter
- p.Cys307Arg Single submitter ⚠
- p.Cys523Ter Single submitter
- p.Cys53Arg Single submitter ⚠
- p.Gln264Arg Single submitter inherited retinal dystrophy ⚠
- p.Gln389Arg Single submitter ⚠
- p.Gln480His Single submitter Inborn genetic diseases ⚠
- p.Gln492His Single submitter ⚠
- p.Gln505His Single submitter ⚠
- p.Glu125Lys Single submitter ⚠
- p.Glu131_Ala132insAspGluGluAspGluGluGluGlu Single submitter
- p.Glu133Gln Single submitter ⚠
- p.Glu157Asp Single submitter ⚠
- p.Glu19Lys Single submitter ⚠
- p.Glu228Lys Single submitter retinitis pigmentosa ⚠
- p.Glu252Lys Single submitter Inborn genetic diseases ⚠
- p.Glu287Lys Single submitter ⚠
- p.Glu331Lys Single submitter Inborn genetic diseases ⚠
- p.Glu431Ala Single submitter ⚠
- p.Glu460Lys Single submitter inherited retinal dystrophy ⚠
- p.Glu542Lys Single submitter Inborn genetic diseases ⚠
- p.Glu72Asp Single submitter ⚠
- p.Gly164Asp Single submitter ⚠
- p.Gly167Arg Single submitter ⚠
- p.Gly17Glu Single submitter Inborn genetic diseases ⚠
- p.Gly191Arg Single submitter Inborn genetic diseases ⚠
- p.Gly201Ala Single submitter ⚠
- p.Gly227Glu Single submitter ⚠
- p.Gly315Asp Single submitter ⚠
- p.Gly319= Single submitter
- p.Gly319Ala Single submitter ⚠
- p.Gly339Asp Single submitter retinitis pigmentosa 14 ⚠
- p.Gly537= Single submitter
- p.Gly537Arg Single submitter ⚠
- p.His462Tyr Single submitter ⚠
- p.Ile354Thr Single submitter ⚠
- p.Ile354Val Single submitter inherited retinal dystrophy ⚠
- p.Ile367del Single submitter
- p.Ile407Asn Single submitter ⚠
- p.Ile502Asn Single submitter ⚠
- p.Ile502Phe Single submitter ⚠
- p.Leu328Pro Single submitter ⚠
- p.Leu337Ser Single submitter inherited retinal dystrophy ⚠
- p.Leu403Gln Single submitter ⚠
- p.Leu403Val Single submitter retinitis pigmentosa 14 ⚠
- p.Leu413Val Single submitter Inborn genetic diseases ⚠
- p.Leu447Met Single submitter ⚠
- p.Leu461Val Single submitter ⚠
- p.Lys199Asn Single submitter
- p.Lys207Arg Single submitter ⚠
- p.Lys243Thr Single submitter ⚠
- p.Lys247Glu Single submitter ⚠
- p.Lys260Thr Single submitter ⚠
- p.Lys261_Ser262delinsAsnArg Single submitter
- p.Lys313Glu Single submitter ⚠
- p.Lys538Gln Single submitter retinitis pigmentosa 14 ⚠
- p.Lys538Glu Single submitter Leber congenital amaurosis 15 ⚠
- p.Met421Thr Single submitter ⚠
- p.Met428Thr Single submitter ⚠
- p.Phe106Leu Single submitter ⚠
- p.Phe325Leu Single submitter ⚠
- p.Phe366Ser Single submitter ⚠
- p.Phe379Leu Single submitter Leber congenital amaurosis 15 ⚠
- p.Pro142Leu Single submitter Inborn genetic diseases ⚠
- p.Pro175Thr Single submitter ⚠
- p.Pro176Ser Single submitter ⚠
- p.Pro213Ser Single submitter Inborn genetic diseases ⚠
- p.Pro213Thr Single submitter Inborn genetic diseases ⚠
- p.Pro220Leu Single submitter ⚠
- p.Pro220Ser Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Pro282Leu Single submitter ⚠
- p.Pro284Ser Single submitter ⚠
- p.Pro285fs Single submitter
- p.Pro28Leu Single submitter Inborn genetic diseases ⚠
- p.Pro291Arg Single submitter
- p.Pro298Thr Single submitter ⚠
- p.Pro2Ser Single submitter
- p.Pro322Ser Single submitter retinitis pigmentosa 14 ⚠
- p.Pro356Ser Single submitter ⚠
- p.Pro37Leu Single submitter ⚠
- p.Pro466Ser Single submitter inherited retinal dystrophy ⚠
- p.Pro52Leu Single submitter ⚠
- p.Pro54Leu Single submitter ⚠
- p.Pro59Ser Single submitter ⚠
- p.Pro78Thr Single submitter Inborn genetic diseases ⚠
- p.Pro95Ser Single submitter Leber congenital amaurosis 15 ⚠
- p.Ser212Thr Single submitter ⚠
- p.Ser22Thr Single submitter ⚠
- p.Ser262Asn Single submitter ⚠
- p.Ser345Gly Single submitter ⚠
- p.Ser353Phe Single submitter ⚠
- p.Ser398Arg Single submitter ⚠
- p.Ser429Arg Single submitter inherited retinal dystrophy ⚠
- p.Ser443Asn Single submitter Inborn genetic diseases ⚠
- p.Ser443Cys Single submitter ⚠
- p.Ser51Tyr Single submitter ⚠
- p.Ser533Phe Single submitter retinitis pigmentosa 14 ⚠
- p.Ser75Phe Single submitter retinitis pigmentosa ⚠
- p.Thr241Ser Single submitter ⚠
- p.Thr257Ala Single submitter ⚠
- p.Thr347Ile Single submitter ⚠
- p.Thr422Ile Single submitter ⚠
- p.Thr46Met Single submitter ⚠