SAG — 522 ClinVar variants
All ClinVar germline SAG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 223 flagged for review →
15 Pathogenic · 7 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 35 Conflicting · 43 Benign · 10 Benign/Likely benign · 136 Likely benign · 253 Uncertain significance
Full SAG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 223
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 agree, ClinVar conflicts 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SAG p.Ala101Thr
Conflicting
Single submitter
Oguchi disease
-
SAG p.Ala163Asp
Conflicting
Single submitter
Inborn genetic diseases
- SAG p.Ala243Val Conflicting Single submitter
-
SAG p.Ala352Thr
Conflicting
Single submitter
retinitis pigmentosa
-
SAG p.Glu11Lys
Conflicting
Single submitter
retinitis pigmentosa
-
SAG p.Gly80Cys
Conflicting
Single submitter
inherited retinal dystrophy
-
SAG p.His208Gln
Conflicting
Single submitter
Inborn genetic diseases
- SAG p.Lys171Glu Conflicting Single submitter
-
SAG p.Pro12Leu
Conflicting
Single submitter
Inborn genetic diseases
-
SAG p.Pro364Leu
Conflicting
Single submitter
Oguchi disease
-
SAG p.Ser133Leu
Conflicting
Single submitter
Oguchi disease
-
SAG p.Thr125Met
Conflicting
Single submitter
retinitis pigmentosa
Predictors lean, ClinVar uncertain 149
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SAG p.Ala100Thr
Uncertain significance
Multiple submitters
Oguchi disease
-
SAG p.Ala101Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- SAG p.Ala157Thr Uncertain significance Multiple submitters
- SAG p.Ala194Thr Uncertain significance Multiple submitters
-
SAG p.Ala196Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Ala289Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Ala2Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SAG p.Ala368Thr Uncertain significance Multiple submitters
-
SAG p.Ala68Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Ala68Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Arg179Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SAG p.Arg179His Uncertain significance Multiple submitters
- SAG p.Arg22Gln Uncertain significance Multiple submitters
-
SAG p.Arg22Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Arg322Gln
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
SAG p.Arg358His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Arg70Cys
Uncertain significance
Multiple submitters
retinitis pigmentosa
- SAG p.Asn250Ser Uncertain significance Multiple submitters
- SAG p.Asn291Ser Uncertain significance Multiple submitters
-
SAG p.Asn376Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SAG p.Asp34Glu Uncertain significance Multiple submitters
- SAG p.Asp34Tyr Uncertain significance Multiple submitters
-
SAG p.Asp52His
Uncertain significance
Multiple submitters
retinitis pigmentosa
- SAG p.Gln269Arg Uncertain significance Multiple submitters
- SAG p.Glu109Lys Uncertain significance Multiple submitters
- SAG p.Glu164Lys Uncertain significance Multiple submitters
- SAG p.Gly148Arg Uncertain significance Multiple submitters
-
SAG p.Gly189Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SAG p.Gly221Ala Uncertain significance Multiple submitters
- SAG p.Gly326Glu Uncertain significance Multiple submitters
-
SAG p.Ile241Val
Uncertain significance
Multiple submitters
Oguchi disease-1
-
SAG p.Ile316Val
Uncertain significance
Multiple submitters
retinitis pigmentosa 96
- SAG p.Ile36Thr Uncertain significance Multiple submitters
- SAG p.Leu112Pro Uncertain significance Multiple submitters
-
SAG p.Leu55Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SAG p.Lys336Arg Uncertain significance Multiple submitters
-
SAG p.Lys369Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Lys57Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Phe151Leu
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
SAG p.Phe200Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Phe379Ser
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- SAG p.Pro127Arg Uncertain significance Multiple submitters
- SAG p.Pro223Arg Uncertain significance Multiple submitters
-
SAG p.Pro274Ser
Uncertain significance
Multiple submitters
Oguchi disease
- SAG p.Ser110Asn Uncertain significance Multiple submitters
-
SAG p.Ser146Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SAG p.Ser255Trp Uncertain significance Multiple submitters
-
SAG p.Ser90Cys
Uncertain significance
Multiple submitters
Oguchi disease
- SAG p.Val174Met Uncertain significance Multiple submitters
-
SAG p.Val238Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Val245Met
Uncertain significance
Multiple submitters
retinitis pigmentosa 47
-
SAG p.Val260Ile
Uncertain significance
Multiple submitters
Oguchi disease
- SAG p.Val263Met Uncertain significance Multiple submitters
- SAG p.Val324Ile Uncertain significance Multiple submitters
-
SAG p.Val378Ile
Uncertain significance
Multiple submitters
Oguchi disease-1
- SAG p.Val49Leu Uncertain significance Multiple submitters
- SAG p.Ala196Glu Uncertain significance Single submitter
- SAG p.Ala210Ser Uncertain significance Single submitter
- SAG p.Ala210Val Uncertain significance Single submitter
- SAG p.Ala243Thr Uncertain significance Single submitter
- SAG p.Ala268Val Uncertain significance Single submitter
- SAG p.Ala311Thr Uncertain significance Single submitter
- SAG p.Ala311Val Uncertain significance Single submitter
-
SAG p.Ala368Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SAG p.Ala375Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SAG p.Arg193Gln Uncertain significance Single submitter
-
SAG p.Arg294Lys
Uncertain significance
Single submitter
inherited retinal dystrophy
- SAG p.Arg294Thr Uncertain significance Single submitter
- SAG p.Arg33Ser Uncertain significance Single submitter
- SAG p.Arg358Cys Uncertain significance Single submitter
- SAG p.Arg91Gln Uncertain significance Single submitter
- SAG p.Asn290Ser Uncertain significance Single submitter
- SAG p.Asn291Asp Uncertain significance Single submitter
- SAG p.Asn309Ser Uncertain significance Single submitter
- SAG p.Asn386Ser Uncertain significance Single submitter
- SAG p.Asp128Ala Uncertain significance Single submitter
- SAG p.Asp150Asn Uncertain significance Single submitter
- SAG p.Asp159Glu Uncertain significance Single submitter
- SAG p.Asp204Glu Uncertain significance Single submitter
-
SAG p.Asp366Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SAG p.Asp37Glu Uncertain significance Single submitter
- SAG p.Asp389Glu Uncertain significance Single submitter
- SAG p.Asp404Asn Uncertain significance Single submitter
- SAG p.Asp54Ala Uncertain significance Single submitter
- SAG p.Asp86Gly Uncertain significance Single submitter
- SAG p.Cys132Arg Uncertain significance Single submitter
- SAG p.Cys67Trp Uncertain significance Single submitter
- SAG p.Gln141Arg Uncertain significance Single submitter
- SAG p.Gln141Lys Uncertain significance Single submitter
- SAG p.Gln199His Uncertain significance Single submitter
- SAG p.Glu109Asp Uncertain significance Single submitter
- SAG p.Glu187Gln Uncertain significance Single submitter
- SAG p.Glu216Gln Uncertain significance Single submitter
- SAG p.Glu370Lys Uncertain significance Single submitter
- SAG p.Glu395Asp Uncertain significance Single submitter
- SAG p.Glu74Asp Uncertain significance Single submitter
- SAG p.Gly189Arg Uncertain significance Single submitter
- SAG p.Gly296Asp Uncertain significance Single submitter
- SAG p.Gly31Glu Uncertain significance Single submitter
- SAG p.Gly396Arg Uncertain significance Single submitter
- SAG p.Gly5Arg Uncertain significance Single submitter
- SAG p.Gly80Ser Uncertain significance Single submitter
- SAG p.Gly80Val Uncertain significance Single submitter
- SAG p.His385Arg Uncertain significance Single submitter
- SAG p.His38Gln Uncertain significance Single submitter
- SAG p.Ile224Val Uncertain significance Single submitter
- SAG p.Ile315Ser Uncertain significance Single submitter
-
SAG p.Ile316Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SAG p.Ile320Thr Uncertain significance Single submitter
- SAG p.Leu111Arg Uncertain significance Single submitter
- SAG p.Leu124Arg Uncertain significance Single submitter
-
SAG p.Leu299Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SAG p.Leu310His Uncertain significance Single submitter
- SAG p.Leu337Arg Uncertain significance Single submitter
- SAG p.Leu50Phe Uncertain significance Single submitter
- SAG p.Lys145Asn Uncertain significance Single submitter
- SAG p.Lys240Arg Uncertain significance Single submitter
- SAG p.Lys369Arg Uncertain significance Single submitter
- SAG p.Lys400Glu Uncertain significance Single submitter
- SAG p.Lys6Arg Uncertain significance Single submitter
- SAG p.Lys9Glu Uncertain significance Single submitter
- SAG p.Met135Lys Uncertain significance Single submitter
- SAG p.Met265Thr Uncertain significance Single submitter
-
SAG p.Met265Val
Uncertain significance
Single submitter
Oguchi disease
- SAG p.Phe151Ser Uncertain significance Single submitter
- SAG p.Phe244Leu Uncertain significance Single submitter
- SAG p.Pro104Ser Uncertain significance Single submitter
- SAG p.Pro104Thr Uncertain significance Single submitter
- SAG p.Pro206Thr Uncertain significance Single submitter
- SAG p.Pro223Ser Uncertain significance Single submitter
- SAG p.Pro356Leu Uncertain significance Single submitter
- SAG p.Pro364Ser Uncertain significance Single submitter
-
SAG p.Pro367Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SAG p.Pro44Ala Uncertain significance Single submitter
- SAG p.Ser330Pro Uncertain significance Single submitter
- SAG p.Ser371Arg Uncertain significance Single submitter
- SAG p.Thr158Ile Uncertain significance Single submitter
- SAG p.Thr279Ala Uncertain significance Single submitter
-
SAG p.Thr338Ala
Uncertain significance
Single submitter
inherited retinal dystrophy
- SAG p.Thr64Asn Uncertain significance Single submitter
- SAG p.Thr7Pro Uncertain significance Single submitter
- SAG p.Tyr331Asn Uncertain significance Single submitter
- SAG p.Tyr88His Uncertain significance Single submitter
- SAG p.Val149Ile Uncertain significance Single submitter
- SAG p.Val248Leu Uncertain significance Single submitter
- SAG p.Val329Met Uncertain significance Single submitter
- SAG p.Val51Ile Uncertain significance Single submitter
- SAG p.Val61Leu Uncertain significance Single submitter
-
SAG p.Ala352Ser
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 62
The independent predictors disagree with each other — read with care.
-
SAG p.Arg22Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Arg292Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa
- SAG p.Arg292Gly Uncertain significance Multiple submitters
-
SAG p.Arg322Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SAG p.Arg384His Uncertain significance Multiple submitters
- SAG p.Arg70His Uncertain significance Multiple submitters
-
SAG p.Glu246Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SAG p.His305Gln Uncertain significance Multiple submitters
-
SAG p.Leu213Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Lys280Glu
Uncertain significance
Multiple submitters
Oguchi disease
-
SAG p.Ser146Tyr
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- SAG p.Ser25Leu Uncertain significance Multiple submitters
-
SAG p.Thr119Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Thr281Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Thr283Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SAG p.Thr338Pro Uncertain significance Multiple submitters
- SAG p.Tyr88Asn Uncertain significance Multiple submitters
-
SAG p.Val228Met
Uncertain significance
Multiple submitters
retinitis pigmentosa 47
-
SAG p.Val49Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SAG p.Val78Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SAG p.Arg175Gln Uncertain significance Single submitter
- SAG p.Arg175Leu Uncertain significance Single submitter
-
SAG p.Arg84Cys
Conflicting
Single submitter
inherited retinal dystrophy
- SAG p.Arg84His Uncertain significance Single submitter
-
SAG p.Arg85Thr
Uncertain significance
Single submitter
inherited retinal dystrophy
- SAG p.Arg91Trp Conflicting Single submitter
- SAG p.Asn275Ile Uncertain significance Single submitter
- SAG p.Asp23His Uncertain significance Single submitter
- SAG p.Asp257Asn Uncertain significance Single submitter
-
SAG p.Asp321Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SAG p.Asp86Glu Uncertain significance Single submitter
- SAG p.Glu266Lys Uncertain significance Single submitter
- SAG p.Glu306Lys Uncertain significance Single submitter
- SAG p.Gly144Glu Uncertain significance Single submitter
- SAG p.Gly319Val Uncertain significance Single submitter
- SAG p.Gly58Arg Uncertain significance Single submitter
- SAG p.Ile16Met Uncertain significance Single submitter
- SAG p.Ile16Thr Uncertain significance Single submitter
- SAG p.Ile303Thr Uncertain significance Single submitter
-
SAG p.Leu123Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SAG p.Leu130Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- SAG p.Leu136Phe Uncertain significance Single submitter
- SAG p.Leu30Val Uncertain significance Single submitter
- SAG p.Lys114Asn Uncertain significance Single submitter
- SAG p.Lys170Glu Uncertain significance Single submitter
- SAG p.Lys18Glu Uncertain significance Single submitter
- SAG p.Phe126Leu Uncertain significance Single submitter
-
SAG p.Phe156Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SAG p.Phe201Leu Uncertain significance Single submitter
- SAG p.Pro185Leu Uncertain significance Single submitter
- SAG p.Ser256Arg Uncertain significance Single submitter
-
SAG p.Thr158Lys
Conflicting
Single submitter
Oguchi disease
- SAG p.Thr234Arg Uncertain significance Single submitter
- SAG p.Thr234Pro Uncertain significance Single submitter
- SAG p.Tyr62Cys Uncertain significance Single submitter
-
SAG p.Tyr71Cys
Conflicting
Single submitter
SAG-related disorder
- SAG p.Tyr71His Uncertain significance Single submitter
- SAG p.Val181Ala Uncertain significance Single submitter
- SAG p.Val226Ala Uncertain significance Single submitter
- SAG p.Val339Leu Uncertain significance Single submitter
- SAG p.Val63Ala Uncertain significance Single submitter
-
SAG p.Ala289Asp
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All SAG variants
Pathogenic 15
- p.Arg193Ter Multiple submitters retinitis pigmentosa 47
- p.Arg292Ter Multiple submitters SAG-related disorder
- p.Asn309fs Multiple submitters Oguchi disease
- p.Cys147Phe Multiple submitters SAG-related disorder
- c.648+1G>C Single submitter Oguchi disease-2
- c.649-1G>C Single submitter Oguchi disease
- p.Arg175Ter Single submitter Oguchi disease
- p.Asn232fs Single submitter
- p.Gln182Ter Single submitter
- p.Glu270fs Single submitter
- p.Glu306Ter Single submitter retinitis pigmentosa 47
- p.Leu115fs Single submitter
- p.Leu207fs Single submitter
- p.Lys60fs Single submitter
- p.Ser25Ter Single submitter
Pathogenic/Likely pathogenic 7
- c.1103-2A>C Multiple submitters SAG-related disorder
- c.136+2T>G Multiple submitters retinitis pigmentosa
- c.182-2A>G Multiple submitters SAG-related disorder
- c.376-2A>G Multiple submitters SAG-related disorder
- c.76-2A>T Multiple submitters
- p.Gln191Ter Multiple submitters Oguchi disease
- p.Leu288fs Multiple submitters SAG-related disorder
Likely pathogenic 23
- c.1023-2A>G Multiple submitters SAG-related disorder
- c.136+2T>C Multiple submitters SAG-related disorder
- c.181+1G>A Multiple submitters SAG-related disorder
- c.435+1G>A Multiple submitters retinitis pigmentosa 47
- c.436-2A>G Multiple submitters SAG-related disorder
- c.72_75+15del Multiple submitters retinitis pigmentosa 47
- c.1046+2T>C Single submitter retinitis pigmentosa 47
- c.1047-1G>C Single submitter
- c.1047-2A>G Single submitter
- c.1102+2T>C Single submitter retinitis pigmentosa 47
- c.182-1G>A Single submitter Oguchi disease-1
- c.513-1G>A Single submitter SAG-related disorder
- c.649-1G>A Single submitter
- c.649-1G>T Single submitter
- c.649-2A>C Single submitter
- c.733+1G>A Single submitter
- c.76-1G>A Single submitter
- c.76-2A>C Single submitter
- p.Gln93fs Single submitter SAG-related disorder
- p.Leu284fs Single submitter SAG-related disorder
- p.Tyr259Ter Single submitter Oguchi disease-1
- p.Val351fs Single submitter SAG-related disorder
- c.513_806del No assertion criteria retinitis pigmentosa
Conflicting classifications of pathogenicity 35
- c.181+20C>T Single submitter
- c.181+6A>G Single submitter
- c.75+7G>T Single submitter retinitis pigmentosa
- c.806+4A>G Single submitter retinitis pigmentosa
- c.-223C>G Single submitter retinitis pigmentosa
- c.-69G>A Single submitter retinitis pigmentosa
- c.*90G>A Single submitter Oguchi disease
- p.Ala101Thr Single submitter Oguchi disease ⚠
- p.Ala163Asp Single submitter Inborn genetic diseases ⚠
- p.Ala196= Single submitter Oguchi disease
- p.Ala243Val Single submitter ⚠
- p.Ala352Thr Single submitter retinitis pigmentosa ⚠
- p.Arg175= Single submitter retinitis pigmentosa
- p.Arg84Cys Single submitter inherited retinal dystrophy ⚠
- p.Arg91Trp Single submitter ⚠
- p.Asp77= Single submitter Oguchi disease
- p.Glu11Lys Single submitter retinitis pigmentosa ⚠
- p.Gly80Cys Single submitter inherited retinal dystrophy ⚠
- p.His208Gln Single submitter Inborn genetic diseases ⚠
- p.Lys171Glu Single submitter ⚠
- p.Phe156= Single submitter retinitis pigmentosa
- p.Pro12= Single submitter inherited retinal dystrophy
- p.Pro12Leu Single submitter Inborn genetic diseases ⚠
- p.Pro140= Single submitter Oguchi disease
- p.Pro364Leu Single submitter Oguchi disease ⚠
- p.Ser133Leu Single submitter Oguchi disease ⚠
- p.Ser25= Single submitter cone dystrophy
- p.Ser4= Single submitter inherited retinal dystrophy
- p.Thr119= Single submitter
- p.Thr125Met Single submitter retinitis pigmentosa ⚠
- p.Thr158= Single submitter
- p.Thr158Lys Single submitter Oguchi disease ⚠
- p.Thr281= Single submitter
- p.Tyr259= Single submitter Inborn genetic diseases
- p.Tyr71Cys Single submitter SAG-related disorder ⚠
Benign 43
- c.1022+109C>G Multiple submitters
- c.1022+228T>C Multiple submitters
- c.1047-13T>C Multiple submitters retinitis pigmentosa
- c.1112+21T>G Multiple submitters
- c.1112+87A>C Multiple submitters
- c.181+252C>T Multiple submitters
- c.181+258C>T Multiple submitters
- c.181+270C>G Multiple submitters
- c.181+272C>T Multiple submitters
- c.181+82A>G Multiple submitters
- c.436-18G>C Multiple submitters Oguchi disease-1
- c.512+237G>A Multiple submitters
- c.513-138G>C Multiple submitters
- c.513-169G>A Multiple submitters
- c.513-173C>T Multiple submitters
- c.513-263T>C Multiple submitters
- c.733+31T>G Multiple submitters Oguchi disease-1
- c.76-40C>T Multiple submitters
- c.76-78G>C Multiple submitters
- c.76-84C>T Multiple submitters
- c.807-170C>T Multiple submitters
- c.807-26A>G Multiple submitters
- c.807-286T>C Multiple submitters
- c.807-332C>T Multiple submitters
- c.*7C>T Multiple submitters Oguchi disease
- p.Ala163= Multiple submitters inherited retinal dystrophy
- p.Gly31= Multiple submitters retinitis pigmentosa
- p.Ile76Val Multiple submitters inherited retinal dystrophy
- p.Val403Ala Multiple submitters inherited retinal dystrophy
- p.Val403Ile Multiple submitters Oguchi disease-1
- c.1046+261C>T Single submitter
- c.1046+274TG[8] Single submitter
- c.1047-131dup Single submitter
- c.1047-5del Single submitter
- c.1103-238AATAA[4] Single submitter
- c.137-279G>A Single submitter
- c.137-284G>C Single submitter
- c.376-191A>G Single submitter
- c.376-258C>A Single submitter
- c.436-223_436-222insT Single submitter
- c.436-297A>G Single submitter
- c.76-249T>C Single submitter
- c.807-151C>T Single submitter
Benign/Likely benign 10
- c.1023-19G>A Multiple submitters
- c.1112+19T>C Multiple submitters
- c.136+4A>G Multiple submitters
- c.182-13A>G Multiple submitters
- c.375+11C>T Multiple submitters retinitis pigmentosa
- c.512+16C>T Multiple submitters
- c.734-18C>A Multiple submitters
- c.*89C>T Multiple submitters Oguchi disease
- p.Cys67= Multiple submitters Oguchi disease
- p.Thr227= Multiple submitters
Likely benign 136
- c.1022+11C>T Multiple submitters
- c.1022+12G>A Multiple submitters
- c.1023-20C>T Multiple submitters
- c.136+7T>C Multiple submitters
- c.136+8G>C Multiple submitters
- c.375+15C>T Multiple submitters
- c.375+16G>A Multiple submitters
- c.436-5A>G Multiple submitters
- c.512+8T>C Multiple submitters
- c.513-11G>C Multiple submitters
- c.648+14A>G Multiple submitters
- c.734-14T>C Multiple submitters
- c.734-16C>T Multiple submitters
- c.75+12A>C Multiple submitters
- c.807-7C>T Multiple submitters
- c.944+10C>T Multiple submitters
- c.945-9T>C Multiple submitters
- p.Ala155= Multiple submitters
- p.Ala268= Multiple submitters
- p.Asp389= Multiple submitters
- p.Glu109= Multiple submitters
- p.Gly148= Multiple submitters
- p.His305= Multiple submitters
- p.Leu288= Multiple submitters
- p.Leu30= Multiple submitters
- p.Lys336= Multiple submitters
- p.Ser10= Multiple submitters
- p.Ser110= Multiple submitters
- p.Ser173= Multiple submitters
- p.Thr283= Multiple submitters
- p.Val351= Multiple submitters
- p.Val48= Multiple submitters
- c.1022+15A>C Single submitter
- c.1022+16C>G Single submitter
- c.1022+17C>A Single submitter
- c.1022+17C>T Single submitter
- c.1023-17T>G Single submitter
- c.1047-10T>C Single submitter
- c.1047-14T>C Single submitter
- c.1047-16C>T Single submitter
- c.1102+14T>C Single submitter
- c.1103-15_1103-13del Single submitter
- c.1103-18T>C Single submitter
- c.1103-4A>G Single submitter
- c.1103-9T>C Single submitter
- c.1112+11C>T Single submitter
- c.1112+14T>C Single submitter
- c.1112+16G>A Single submitter
- c.1112+20_1112+30del Single submitter
- c.1113-12_1113-8del Single submitter
- c.1113-12_1113-9del Single submitter
- c.1113-15T>C Single submitter
- c.137-16C>T Single submitter
- c.137-19T>C Single submitter
- c.181+11G>T Single submitter
- c.181+13C>G Single submitter
- c.181+13C>T Single submitter
- c.181+15C>T Single submitter
- c.181+16T>C Single submitter
- c.182-13A>T Single submitter
- c.375+18C>T Single submitter
- c.375+19C>T Single submitter
- c.375+7G>C Single submitter
- c.376-10C>T Single submitter
- c.376-6C>T Single submitter
- c.376-7T>C Single submitter
- c.512+17G>A Single submitter
- c.513-11G>T Single submitter
- c.513-20T>C Single submitter
- c.513-4A>T Single submitter
- c.648+16C>T Single submitter
- c.649-10A>G Single submitter
- c.649-13C>G Single submitter
- c.649-8T>A Single submitter
- c.733+12T>C Single submitter
- c.733+12T>G Single submitter
- c.733+16C>T Single submitter
- c.733+9T>C Single submitter
- c.75+10G>A Single submitter
- c.75+16G>A Single submitter
- c.75+16G>C Single submitter
- c.75+19A>G Single submitter
- c.76-17A>G Single submitter
- c.76-18C>T Single submitter
- c.76-20C>G Single submitter
- c.76-6T>C Single submitter
- c.76-7C>T Single submitter
- c.76-8T>G Single submitter
- c.806+17G>A Single submitter
- c.807-13C>G Single submitter
- c.807-4C>T Single submitter
- c.944+135A>G Single submitter
- c.945-4G>T Single submitter
- p.Ala100= Single submitter
- p.Ala101= Single submitter
- p.Ala2= Single submitter
- p.Ala210= Single submitter
- p.Ala264= Single submitter
- p.Arg193= Single submitter
- p.Arg22= Single submitter
- p.Asn232= Single submitter
- p.Asp128= Single submitter
- p.Gln182= Single submitter
- p.Glu270= Single submitter
- p.Glu392= Single submitter
- p.Glu395= Single submitter
- p.Glu74= Single submitter
- p.His361= Single submitter
- p.Ile79= Single submitter
- p.Leu107= Single submitter
- p.Leu123= Single submitter
- p.Leu124= Single submitter
- p.Leu328= Single submitter
- p.Leu346= Single submitter
- p.Leu377= Single submitter
- p.Leu387= Single submitter
- p.Lys180= Single submitter
- p.Lys261= Single submitter
- p.Lys400= Single submitter
- p.Lys57= Single submitter
- p.Phe342= Single submitter
- p.Pro104= Single submitter
- p.Pro127= Single submitter
- p.Pro185= Single submitter
- p.Pro262= Single submitter
- p.Pro286= Single submitter
- p.Ser117= Single submitter
- p.Ser255= Single submitter
- p.Thr161= Single submitter
- p.Thr323= Single submitter
- p.Val238= Single submitter
- p.Val248= Single submitter
- p.Val324= Single submitter
- p.Val339= Single submitter
- p.Val92= Single submitter
- p.Tyr71= No assertion criteria SAG-related disorder
Uncertain significance 253
- c.1022+3A>G Multiple submitters
- c.512+2dup Multiple submitters
- c.944+5G>A Multiple submitters retinitis pigmentosa
- p.Ala100Thr Multiple submitters Oguchi disease ⚠
- p.Ala101Val Multiple submitters inherited retinal dystrophy ⚠
- p.Ala157Thr Multiple submitters ⚠
- p.Ala194Thr Multiple submitters ⚠
- p.Ala196Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala289Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala2Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala368Thr Multiple submitters ⚠
- p.Ala68Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala68Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg179Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg179His Multiple submitters ⚠
- p.Arg22Gln Multiple submitters ⚠
- p.Arg22Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg22Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg292Gln Multiple submitters retinitis pigmentosa ⚠
- p.Arg292Gly Multiple submitters ⚠
- p.Arg322Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg322Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg358His Multiple submitters Inborn genetic diseases ⚠
- p.Arg384His Multiple submitters ⚠
- p.Arg70Cys Multiple submitters retinitis pigmentosa ⚠
- p.Arg70His Multiple submitters ⚠
- p.Asn250Ser Multiple submitters ⚠
- p.Asn291Ser Multiple submitters ⚠
- p.Asn376Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asp34Glu Multiple submitters ⚠
- p.Asp34Tyr Multiple submitters ⚠
- p.Asp374fs Multiple submitters
- p.Asp52His Multiple submitters retinitis pigmentosa ⚠
- p.Gln269Arg Multiple submitters ⚠
- p.Glu109Lys Multiple submitters ⚠
- p.Glu164Lys Multiple submitters ⚠
- p.Glu246Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly148Arg Multiple submitters ⚠
- p.Gly189Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly221Ala Multiple submitters ⚠
- p.Gly326Glu Multiple submitters ⚠
- p.His305Gln Multiple submitters ⚠
- p.Ile241Val Multiple submitters Oguchi disease-1 ⚠
- p.Ile316Val Multiple submitters retinitis pigmentosa 96 ⚠
- p.Ile36Thr Multiple submitters ⚠
- p.Leu112Pro Multiple submitters ⚠
- p.Leu213Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu55Ile Multiple submitters Inborn genetic diseases ⚠
- p.Lys280Glu Multiple submitters Oguchi disease ⚠
- p.Lys336Arg Multiple submitters ⚠
- p.Lys369Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys57Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys60= Multiple submitters
- p.Phe151Leu Multiple submitters retinitis pigmentosa ⚠
- p.Phe200Cys Multiple submitters Inborn genetic diseases ⚠
- p.Phe244= Multiple submitters
- p.Phe379Ser Multiple submitters inherited retinal dystrophy ⚠
- p.Pro127Arg Multiple submitters ⚠
- p.Pro192Leu Multiple submitters Inborn genetic diseases
- p.Pro223Arg Multiple submitters ⚠
- p.Pro274Ser Multiple submitters Oguchi disease ⚠
- p.Ser110Asn Multiple submitters ⚠
- p.Ser146Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser146Tyr Multiple submitters inherited retinal dystrophy ⚠
- p.Ser255Leu Multiple submitters
- p.Ser255Trp Multiple submitters ⚠
- p.Ser25Leu Multiple submitters ⚠
- p.Ser90Cys Multiple submitters Oguchi disease ⚠
- p.Thr119Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr125= Multiple submitters
- p.Thr281Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr283Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr338Pro Multiple submitters ⚠
- p.Tyr88Asn Multiple submitters ⚠
- p.Val174Met Multiple submitters ⚠
- p.Val228Met Multiple submitters retinitis pigmentosa 47 ⚠
- p.Val238Met Multiple submitters Inborn genetic diseases ⚠
- p.Val245Met Multiple submitters retinitis pigmentosa 47 ⚠
- p.Val260Ile Multiple submitters Oguchi disease ⚠
- p.Val263Met Multiple submitters ⚠
- p.Val272Ala Multiple submitters
- p.Val324Ile Multiple submitters ⚠
- p.Val378Ile Multiple submitters Oguchi disease-1 ⚠
- p.Val49Leu Multiple submitters ⚠
- p.Val49Met Multiple submitters Inborn genetic diseases ⚠
- p.Val78Leu Multiple submitters Inborn genetic diseases ⚠
- c.1020_1022+9dup Single submitter
- c.1023-13_1023-10del Single submitter
- c.1046+5G>A Single submitter
- c.1046+5G>T Single submitter
- c.1047-182A>C Single submitter
- c.376-3_376-2del Single submitter
- c.436-19_436-18delinsCC Single submitter
- c.436-3C>T Single submitter
- c.648+6C>T Single submitter
- c.76-727A>C Single submitter
- c.806+5G>A Single submitter
- c.945-3C>A Single submitter
- c.945-6G>A Single submitter
- c.-11G>A Single submitter Oguchi disease
- c.-28-10A>G Single submitter retinitis pigmentosa
- c.-5A>G Single submitter
- c.*113C>T Single submitter retinitis pigmentosa
- c.*20C>T Single submitter Oguchi disease
- c.*98G>A Single submitter Oguchi disease
- p.Ala196Glu Single submitter ⚠
- p.Ala210Ser Single submitter ⚠
- p.Ala210Val Single submitter ⚠
- p.Ala243Thr Single submitter ⚠
- p.Ala268Val Single submitter ⚠
- p.Ala311Thr Single submitter ⚠
- p.Ala311Val Single submitter ⚠
- p.Ala368Gly Single submitter Inborn genetic diseases ⚠
- p.Ala375Val Single submitter Inborn genetic diseases ⚠
- p.Arg175Gln Single submitter ⚠
- p.Arg175Leu Single submitter ⚠
- p.Arg193Gln Single submitter ⚠
- p.Arg294Lys Single submitter inherited retinal dystrophy ⚠
- p.Arg294Thr Single submitter ⚠
- p.Arg33Ser Single submitter ⚠
- p.Arg358Cys Single submitter ⚠
- p.Arg84His Single submitter ⚠
- p.Arg85Thr Single submitter inherited retinal dystrophy ⚠
- p.Arg91Gln Single submitter ⚠
- p.Asn275Ile Single submitter ⚠
- p.Asn290Ser Single submitter ⚠
- p.Asn291Asp Single submitter ⚠
- p.Asn309Ser Single submitter ⚠
- p.Asn386Ser Single submitter ⚠
- p.Asp128Ala Single submitter ⚠
- p.Asp150Asn Single submitter ⚠
- p.Asp159Glu Single submitter ⚠
- p.Asp204Glu Single submitter ⚠
- p.Asp23His Single submitter ⚠
- p.Asp257Asn Single submitter ⚠
- p.Asp321Val Single submitter Inborn genetic diseases ⚠
- p.Asp366Glu Single submitter Inborn genetic diseases ⚠
- p.Asp37Glu Single submitter ⚠
- p.Asp389Glu Single submitter ⚠
- p.Asp404Asn Single submitter ⚠
- p.Asp54Ala Single submitter ⚠
- p.Asp86Glu Single submitter ⚠
- p.Asp86Gly Single submitter ⚠
- p.Cys132Arg Single submitter ⚠
- p.Cys67Trp Single submitter ⚠
- p.Gln141Arg Single submitter ⚠
- p.Gln141Lys Single submitter ⚠
- p.Gln199His Single submitter ⚠
- p.Glu109Asp Single submitter ⚠
- p.Glu187Gln Single submitter ⚠
- p.Glu216Gln Single submitter ⚠
- p.Glu266Lys Single submitter ⚠
- p.Glu306Lys Single submitter ⚠
- p.Glu370Lys Single submitter ⚠
- p.Glu395Asp Single submitter ⚠
- p.Glu74Asp Single submitter ⚠
- p.Gly144= Single submitter
- p.Gly144Glu Single submitter ⚠
- p.Gly189Arg Single submitter ⚠
- p.Gly296Asp Single submitter ⚠
- p.Gly319Val Single submitter ⚠
- p.Gly31Glu Single submitter ⚠
- p.Gly396Arg Single submitter ⚠
- p.Gly58Arg Single submitter ⚠
- p.Gly5Arg Single submitter ⚠
- p.Gly80Ser Single submitter ⚠
- p.Gly80Val Single submitter ⚠
- p.His220= Single submitter inherited retinal dystrophy
- p.His385Arg Single submitter ⚠
- p.His38Gln Single submitter ⚠
- p.Ile16Met Single submitter ⚠
- p.Ile16Thr Single submitter ⚠
- p.Ile224Val Single submitter ⚠
- p.Ile303Thr Single submitter ⚠
- p.Ile315Ser Single submitter ⚠
- p.Ile316Leu Single submitter Inborn genetic diseases ⚠
- p.Ile320Thr Single submitter ⚠
- p.Leu111Arg Single submitter ⚠
- p.Leu123Pro Single submitter Inborn genetic diseases ⚠
- p.Leu124Arg Single submitter ⚠
- p.Leu130Phe Single submitter Inborn genetic diseases ⚠
- p.Leu136Phe Single submitter ⚠
- p.Leu299Arg Single submitter Inborn genetic diseases ⚠
- p.Leu30Val Single submitter ⚠
- p.Leu310His Single submitter ⚠
- p.Leu337Arg Single submitter ⚠
- p.Leu343= Single submitter inherited retinal dystrophy
- p.Leu343fs Single submitter
- p.Leu50Phe Single submitter ⚠
- p.Lys114Asn Single submitter ⚠
- p.Lys145Asn Single submitter ⚠
- p.Lys170Glu Single submitter ⚠
- p.Lys18Glu Single submitter ⚠
- p.Lys19del Single submitter
- p.Lys240Arg Single submitter ⚠
- p.Lys334Met Single submitter Inborn genetic diseases
- p.Lys369Arg Single submitter ⚠
- p.Lys400Glu Single submitter ⚠
- p.Lys6Arg Single submitter ⚠
- p.Lys9Glu Single submitter ⚠
- p.Met135Lys Single submitter ⚠
- p.Met265Thr Single submitter ⚠
- p.Met265Val Single submitter Oguchi disease ⚠
- p.Phe126Leu Single submitter ⚠
- p.Phe151Ser Single submitter ⚠
- p.Phe156Leu Single submitter Inborn genetic diseases ⚠
- p.Phe201Leu Single submitter ⚠
- p.Phe244Leu Single submitter ⚠
- p.Phe379fs Single submitter
- p.Pro104Ser Single submitter ⚠
- p.Pro104Thr Single submitter ⚠
- p.Pro185Leu Single submitter ⚠
- p.Pro206Thr Single submitter ⚠
- p.Pro223Ser Single submitter ⚠
- p.Pro356Leu Single submitter ⚠
- p.Pro364Ser Single submitter ⚠
- p.Pro367Leu Single submitter Inborn genetic diseases ⚠
- p.Pro44Ala Single submitter ⚠
- p.Pro97del Single submitter
- p.Ser256Arg Single submitter ⚠
- p.Ser330Pro Single submitter ⚠
- p.Ser371Arg Single submitter ⚠
- p.Ser8= Single submitter
- p.Thr158Ile Single submitter ⚠
- p.Thr234Arg Single submitter ⚠
- p.Thr234Pro Single submitter ⚠
- p.Thr237= Single submitter inherited retinal dystrophy
- p.Thr279Ala Single submitter ⚠
- p.Thr338Ala Single submitter inherited retinal dystrophy ⚠
- p.Thr64Asn Single submitter ⚠
- p.Thr66Asn Single submitter
- p.Thr66Ile Single submitter
- p.Thr7Pro Single submitter ⚠
- p.Tyr331Asn Single submitter ⚠
- p.Tyr62Cys Single submitter ⚠
- p.Tyr71His Single submitter ⚠
- p.Tyr88His Single submitter ⚠
- p.Val149Ile Single submitter ⚠
- p.Val181Ala Single submitter ⚠
- p.Val226Ala Single submitter ⚠
- p.Val248Leu Single submitter ⚠
- p.Val329Met Single submitter ⚠
- p.Val335Met Single submitter retinitis pigmentosa 96
- p.Val339Leu Single submitter ⚠
- p.Val45= Single submitter
- p.Val51Ile Single submitter ⚠
- p.Val61Leu Single submitter ⚠
- p.Val63Ala Single submitter ⚠
- p.Val78Met Single submitter
- p.Val94Gly Single submitter
- p.Ala289Asp No assertion criteria inherited retinal dystrophy ⚠
- p.Ala352Ser No assertion criteria inherited retinal dystrophy ⚠
- p.Pro127Ser No assertion criteria inherited retinal dystrophy