IMPG1 — 844 ClinVar variants
All ClinVar germline IMPG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 449 flagged for review →
30 Pathogenic · 17 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 45 Conflicting · 23 Benign · 8 Benign/Likely benign · 218 Likely benign · 480 Uncertain significance
Full IMPG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 449
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 30
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- IMPG1 p.Ala229Thr Conflicting Single submitter
- IMPG1 p.Ala252Thr Conflicting Single submitter
-
IMPG1 p.Ala72Thr
Conflicting
Single submitter
inherited retinal dystrophy
-
IMPG1 p.Arg507Gln
Conflicting
Single submitter
inherited retinal dystrophy
- IMPG1 p.Arg571Gln Conflicting Single submitter
- IMPG1 p.Arg599Gln Conflicting Single submitter
- IMPG1 p.Arg614Gln Conflicting Single submitter
-
IMPG1 p.Arg661His
Conflicting
Single submitter
vitelliform macular dystrophy 4
-
IMPG1 p.Arg704Gln
Conflicting
Single submitter
inherited retinal dystrophy
- IMPG1 p.Asp211Asn Conflicting Single submitter
-
IMPG1 p.Gln367Arg
Conflicting
Single submitter
inherited retinal dystrophy
-
IMPG1 p.Glu178Asp
Conflicting
Single submitter
inherited retinal dystrophy
-
IMPG1 p.Glu334Lys
Conflicting
Single submitter
inherited retinal dystrophy
- IMPG1 p.Gly694Ser Conflicting Single submitter
- IMPG1 p.Ile36Val Conflicting Single submitter
-
IMPG1 p.Leu154Pro
Conflicting
Single submitter
IMPG1-related disorder
-
IMPG1 p.Leu238Pro
Conflicting
Single submitter
IMPG1-related disorder
- IMPG1 p.Leu412Pro Conflicting Single submitter
-
IMPG1 p.Leu579Pro
Conflicting
Single submitter
benign concentric annular macular dystrophy
-
IMPG1 p.Leu608Pro
Conflicting
Single submitter
IMPG1-related disorder
- IMPG1 p.Leu740Phe Conflicting Single submitter
-
IMPG1 p.Met515Ile
Conflicting
Single submitter
inherited retinal dystrophy
-
IMPG1 p.Pro196Ser
Conflicting
Single submitter
inherited retinal dystrophy
- IMPG1 p.Pro385Ala Conflicting Single submitter
- IMPG1 p.Pro448Leu Conflicting Single submitter
- IMPG1 p.Pro530Thr Conflicting Single submitter
- IMPG1 p.Thr305Met Conflicting Single submitter
-
IMPG1 p.Thr339Asn
Conflicting
Single submitter
inherited retinal dystrophy
- IMPG1 p.Tyr349Cys Conflicting Single submitter
- IMPG1 p.Val784Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 360
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 360
- IMPG1 p.Ala362Val Uncertain significance Multiple submitters
- IMPG1 p.Ala386Asp Uncertain significance Multiple submitters
- IMPG1 p.Ala453Val Uncertain significance Multiple submitters
- IMPG1 p.Ala567Val Uncertain significance Multiple submitters
- IMPG1 p.Arg116Cys Uncertain significance Multiple submitters
- IMPG1 p.Arg235Ser Uncertain significance Multiple submitters
- IMPG1 p.Arg357Gly Uncertain significance Multiple submitters
- IMPG1 p.Arg59Gln Uncertain significance Multiple submitters
- IMPG1 p.Arg59Gly Uncertain significance Multiple submitters
- IMPG1 p.Arg614Pro Uncertain significance Multiple submitters
- IMPG1 p.Arg661Cys Uncertain significance Multiple submitters
- IMPG1 p.Asp168Gly Uncertain significance Multiple submitters
- IMPG1 p.Asp295Asn Uncertain significance Multiple submitters
- IMPG1 p.Asp461Gly Uncertain significance Multiple submitters
- IMPG1 p.Asp466Gly Uncertain significance Multiple submitters
- IMPG1 p.Asp520Gly Uncertain significance Multiple submitters
- IMPG1 p.Asp589Asn Uncertain significance Multiple submitters
- IMPG1 p.Asp62His Uncertain significance Multiple submitters
- IMPG1 p.Cys130Arg Uncertain significance Multiple submitters
- IMPG1 p.Cys130Ser Uncertain significance Multiple submitters
- IMPG1 p.Cys710Tyr Uncertain significance Multiple submitters
- IMPG1 p.Cys712Arg Uncertain significance Multiple submitters
- IMPG1 p.Gln255His Uncertain significance Multiple submitters
- IMPG1 p.Gln269Arg Uncertain significance Multiple submitters
- IMPG1 p.Gln719Arg Uncertain significance Multiple submitters
- IMPG1 p.Gln94Lys Uncertain significance Multiple submitters
- IMPG1 p.Glu104Ala Uncertain significance Multiple submitters
- IMPG1 p.Glu149Asp Uncertain significance Multiple submitters
- IMPG1 p.Glu181Lys Uncertain significance Multiple submitters
- IMPG1 p.Glu237Lys Uncertain significance Multiple submitters
- IMPG1 p.Glu366Lys Uncertain significance Multiple submitters
- IMPG1 p.Glu46Lys Uncertain significance Multiple submitters
-
IMPG1 p.Glu513Lys
Uncertain significance
Multiple submitters
IMPG1-related disorder
- IMPG1 p.Glu538Lys Uncertain significance Multiple submitters
- IMPG1 p.Glu597Lys Uncertain significance Multiple submitters
-
IMPG1 p.Glu695Lys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- IMPG1 p.Glu703Lys Uncertain significance Multiple submitters
- IMPG1 p.Gly287Arg Uncertain significance Multiple submitters
- IMPG1 p.Gly631Arg Uncertain significance Multiple submitters
- IMPG1 p.Gly655Arg Uncertain significance Multiple submitters
- IMPG1 p.Gly724Ser Uncertain significance Multiple submitters
- IMPG1 p.Gly728Val Uncertain significance Multiple submitters
- IMPG1 p.Gly731Asp Uncertain significance Multiple submitters
-
IMPG1 p.His337Arg
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- IMPG1 p.His545Asn Uncertain significance Multiple submitters
- IMPG1 p.His66Gln Uncertain significance Multiple submitters
- IMPG1 p.Ile112Phe Uncertain significance Multiple submitters
- IMPG1 p.Ile359Val Uncertain significance Multiple submitters
- IMPG1 p.Ile60Leu Uncertain significance Multiple submitters
- IMPG1 p.Ile625Met Uncertain significance Multiple submitters
- IMPG1 p.Ile625Thr Uncertain significance Multiple submitters
- IMPG1 p.Ile634Ser Uncertain significance Multiple submitters
-
IMPG1 p.Leu268Ile
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- IMPG1 p.Leu322Phe Uncertain significance Multiple submitters
-
IMPG1 p.Leu613Pro
Uncertain significance
Multiple submitters
benign concentric annular macular dystrophy
- IMPG1 p.Leu670Arg Uncertain significance Multiple submitters
- IMPG1 p.Leu722Pro Uncertain significance Multiple submitters
- IMPG1 p.Lys167Thr Uncertain significance Multiple submitters
-
IMPG1 p.Lys282Asn
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- IMPG1 p.Lys593Arg Uncertain significance Multiple submitters
- IMPG1 p.Met302Thr Uncertain significance Multiple submitters
- IMPG1 p.Met54Ile Uncertain significance Multiple submitters
-
IMPG1 p.Met57Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- IMPG1 p.Phe325Ser Uncertain significance Multiple submitters
-
IMPG1 p.Phe628Leu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- IMPG1 p.Phe765Val Uncertain significance Multiple submitters
- IMPG1 p.Pro179Arg Uncertain significance Multiple submitters
- IMPG1 p.Pro396Ser Uncertain significance Multiple submitters
- IMPG1 p.Pro39Ser Uncertain significance Multiple submitters
-
IMPG1 p.Pro410Thr
Uncertain significance
Multiple submitters
vitelliform macular dystrophy 4
- IMPG1 p.Pro646Ala Uncertain significance Multiple submitters
- IMPG1 p.Ser171Pro Uncertain significance Multiple submitters
- IMPG1 p.Ser332Ile Uncertain significance Multiple submitters
- IMPG1 p.Ser332Thr Uncertain significance Multiple submitters
-
IMPG1 p.Ser360Thr
Uncertain significance
Multiple submitters
vitelliform macular dystrophy 5
- IMPG1 p.Ser383Thr Uncertain significance Multiple submitters
- IMPG1 p.Ser484Arg Uncertain significance Multiple submitters
- IMPG1 p.Ser490Asn Uncertain significance Multiple submitters
- IMPG1 p.Ser662Phe Uncertain significance Multiple submitters
- IMPG1 p.Ser718Thr Uncertain significance Multiple submitters
- IMPG1 p.Ser775Asn Uncertain significance Multiple submitters
- IMPG1 p.Thr217Ala Uncertain significance Multiple submitters
- IMPG1 p.Thr403Ala Uncertain significance Multiple submitters
- IMPG1 p.Thr44Ala Uncertain significance Multiple submitters
- IMPG1 p.Thr45Ile Uncertain significance Multiple submitters
- IMPG1 p.Thr465Ser Uncertain significance Multiple submitters
-
IMPG1 p.Thr560Ala
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- IMPG1 p.Thr76Ala Uncertain significance Multiple submitters
- IMPG1 p.Trp794Arg Uncertain significance Multiple submitters
- IMPG1 p.Tyr29His Uncertain significance Multiple submitters
- IMPG1 p.Tyr558Cys Uncertain significance Multiple submitters
- IMPG1 p.Tyr96Phe Uncertain significance Multiple submitters
- IMPG1 p.Val11Ala Uncertain significance Multiple submitters
- IMPG1 p.Val18Leu Uncertain significance Multiple submitters
- IMPG1 p.Val192Ile Uncertain significance Multiple submitters
- IMPG1 p.Val371Ala Uncertain significance Multiple submitters
- IMPG1 p.Val516Ile Uncertain significance Multiple submitters
-
IMPG1 p.Val633Met
Uncertain significance
Multiple submitters
vitelliform macular dystrophy 4
- IMPG1 p.Ala109Glu Uncertain significance Single submitter
- IMPG1 p.Ala109Val Uncertain significance Single submitter
- IMPG1 p.Ala190Thr Uncertain significance Single submitter
- IMPG1 p.Ala249Val Uncertain significance Single submitter
- IMPG1 p.Ala252Gly Uncertain significance Single submitter
- IMPG1 p.Ala252Ser Uncertain significance Single submitter
- IMPG1 p.Ala306Gly Uncertain significance Single submitter
- IMPG1 p.Ala386Val Uncertain significance Single submitter
- IMPG1 p.Ala400Pro Uncertain significance Single submitter
- IMPG1 p.Ala447Thr Uncertain significance Single submitter
- IMPG1 p.Ala501Thr Uncertain significance Single submitter
- IMPG1 p.Ala501Val Uncertain significance Single submitter
- IMPG1 p.Ala585Gly Uncertain significance Single submitter
- IMPG1 p.Ala585Val Uncertain significance Single submitter
- IMPG1 p.Ala642Pro Uncertain significance Single submitter
- IMPG1 p.Ala682Asp Uncertain significance Single submitter
- IMPG1 p.Ala692Thr Uncertain significance Single submitter
- IMPG1 p.Ala692Val Uncertain significance Single submitter
- IMPG1 p.Ala72Val Uncertain significance Single submitter
-
IMPG1 p.Arg166Lys
Uncertain significance
Single submitter
inherited retinal dystrophy
- IMPG1 p.Arg224Ser Uncertain significance Single submitter
- IMPG1 p.Arg41Ile Uncertain significance Single submitter
- IMPG1 p.Arg661Leu Uncertain significance Single submitter
- IMPG1 p.Arg711Cys Uncertain significance Single submitter
- IMPG1 p.Asn146Lys Uncertain significance Single submitter
- IMPG1 p.Asn191Lys Uncertain significance Single submitter
- IMPG1 p.Asn244Lys Uncertain significance Single submitter
- IMPG1 p.Asn27Ser Uncertain significance Single submitter
- IMPG1 p.Asn588Ser Uncertain significance Single submitter
- IMPG1 p.Asn636Thr Uncertain significance Single submitter
- IMPG1 p.Asn648Lys Uncertain significance Single submitter
- IMPG1 p.Asp115Tyr Uncertain significance Single submitter
- IMPG1 p.Asp152Asn Uncertain significance Single submitter
- IMPG1 p.Asp152His Uncertain significance Single submitter
-
IMPG1 p.Asp152Val
Uncertain significance
Single submitter
inherited retinal dystrophy
- IMPG1 p.Asp165Asn Uncertain significance Single submitter
- IMPG1 p.Asp202Gly Uncertain significance Single submitter
- IMPG1 p.Asp203Tyr Uncertain significance Single submitter
- IMPG1 p.Asp211His Uncertain significance Single submitter
- IMPG1 p.Asp23Val Uncertain significance Single submitter
- IMPG1 p.Asp321Asn Uncertain significance Single submitter
- IMPG1 p.Asp343His Uncertain significance Single submitter
- IMPG1 p.Asp370Val Uncertain significance Single submitter
- IMPG1 p.Asp378Gly Uncertain significance Single submitter
- IMPG1 p.Asp405Asn Uncertain significance Single submitter
- IMPG1 p.Asp405His Uncertain significance Single submitter
- IMPG1 p.Asp405Tyr Uncertain significance Single submitter
- IMPG1 p.Asp423Glu Uncertain significance Single submitter
- IMPG1 p.Asp423Tyr Uncertain significance Single submitter
- IMPG1 p.Asp431Ala Uncertain significance Single submitter
- IMPG1 p.Asp505Val Uncertain significance Single submitter
- IMPG1 p.Asp514Val Uncertain significance Single submitter
Predictors split 58
The independent predictors disagree with each other — read with care.
-
IMPG1 p.Arg111Gln
Uncertain significance
Multiple submitters
vitelliform macular dystrophy 4
- IMPG1 p.Arg111Trp Uncertain significance Multiple submitters
- IMPG1 p.Arg580His Uncertain significance Multiple submitters
- IMPG1 p.Arg70Gly Uncertain significance Multiple submitters
- IMPG1 p.Asp23Asn Uncertain significance Multiple submitters
- IMPG1 p.Cys730Trp Uncertain significance Multiple submitters
- IMPG1 p.Cys737Phe Uncertain significance Multiple submitters
- IMPG1 p.Glu122Asp Uncertain significance Multiple submitters
- IMPG1 p.Glu658Lys Uncertain significance Multiple submitters
-
IMPG1 p.Met584Thr
Uncertain significance
Multiple submitters
vitelliform macular dystrophy 4
- IMPG1 p.Thr650Asn Uncertain significance Multiple submitters
- IMPG1 p.Tyr97His Uncertain significance Multiple submitters
- IMPG1 p.Ala582Pro Uncertain significance Single submitter
- IMPG1 p.Ala697Pro Uncertain significance Single submitter
- IMPG1 p.Ala708Glu Uncertain significance Single submitter
- IMPG1 p.Ala708Val Uncertain significance Single submitter
- IMPG1 p.Ala8Pro Uncertain significance Single submitter
-
IMPG1 p.Arg116His
Conflicting
Single submitter
inherited retinal dystrophy
- IMPG1 p.Arg157Thr Uncertain significance Single submitter
- IMPG1 p.Arg599Gly Uncertain significance Single submitter
- IMPG1 p.Arg67Gln Uncertain significance Single submitter
- IMPG1 p.Asp659Val Uncertain significance Single submitter
- IMPG1 p.Cys712Tyr Uncertain significance Single submitter
- IMPG1 p.Cys730Ser Uncertain significance Single submitter
- IMPG1 p.Gln103Leu Uncertain significance Single submitter
- IMPG1 p.Gln604Pro Uncertain significance Single submitter
- IMPG1 p.Glu250Lys Uncertain significance Single submitter
- IMPG1 p.Glu624Lys Uncertain significance Single submitter
- IMPG1 p.Ile140Phe Uncertain significance Single submitter
- IMPG1 p.Ile359Thr Uncertain significance Single submitter
- IMPG1 p.Ile374Met Uncertain significance Single submitter
- IMPG1 p.Leu251Val Uncertain significance Single submitter
- IMPG1 p.Leu268Pro Uncertain significance Single submitter
- IMPG1 p.Leu304Arg Uncertain significance Single submitter
-
IMPG1 p.Leu626Phe
Conflicting
Single submitter
benign concentric annular macular dystrophy
- IMPG1 p.Leu691Pro Uncertain significance Single submitter
- IMPG1 p.Lys593Asn Uncertain significance Single submitter
- IMPG1 p.Met270Lys Uncertain significance Single submitter
- IMPG1 p.Met302Arg Uncertain significance Single submitter
-
IMPG1 p.Phe138Cys
Uncertain significance
Single submitter
inherited retinal dystrophy
- IMPG1 p.Phe15Leu Uncertain significance Single submitter
- IMPG1 p.Phe61Leu Uncertain significance Single submitter
- IMPG1 p.Phe74Ser Uncertain significance Single submitter
-
IMPG1 p.Pro278Ser
Uncertain significance
Single submitter
inherited retinal dystrophy
- IMPG1 p.Ser241Cys Uncertain significance Single submitter
-
IMPG1 p.Ser256Cys
Conflicting
Single submitter
inherited retinal dystrophy
- IMPG1 p.Ser298Gly Uncertain significance Single submitter
- IMPG1 p.Ser299Phe Uncertain significance Single submitter
- IMPG1 p.Thr76Met Uncertain significance Single submitter
-
IMPG1 p.Tyr258Cys
Conflicting
Single submitter
inherited retinal dystrophy
- IMPG1 p.Tyr647Cys Uncertain significance Single submitter
- IMPG1 p.Val101Leu Uncertain significance Single submitter
- IMPG1 p.Val106Leu Uncertain significance Single submitter
- IMPG1 p.Val653Met Uncertain significance Single submitter
-
IMPG1 p.Val78Phe
Uncertain significance
Single submitter
inherited retinal dystrophy
- IMPG1 p.Val80Phe Uncertain significance Single submitter
-
IMPG1 p.Arg157Ile
Uncertain significance
No assertion criteria
inherited retinal dystrophy
- IMPG1 p.Met270Arg Uncertain significance No assertion criteria
All IMPG1 variants
Pathogenic 30
- c.807+1G>C Single submitter vitelliform macular dystrophy 2
- p.Arg357fs Single submitter
- p.Arg6fs Single submitter
- p.Asn215fs Single submitter
- p.Asp203fs Single submitter
- p.Asp505fs Single submitter
- p.Asp523_Ser525delinsPheCysTer Single submitter
- p.Gln234Ter Single submitter
- p.Gln418fs Single submitter
- p.Gln462Ter Single submitter
- p.Gln607Ter Single submitter
- p.Glu223fs Single submitter
- p.Glu225fs Single submitter
- p.Glu347fs Single submitter
- p.Glu426Ter Single submitter
- p.Ile112fs Single submitter
- p.Ile283fs Single submitter
- p.Leu479fs Single submitter
- p.Leu547fs Single submitter
- p.Met515fs Single submitter
- p.Phe163fs Single submitter
- p.Phe450fs Single submitter
- p.Pro500fs Single submitter
- p.Ser531fs Single submitter
- p.Thr33fs Single submitter
- p.Trp107Ter Single submitter
- p.Tyr675Ter Single submitter
- p.Tyr97Ter Single submitter
- c.807+1G>T No assertion criteria vitelliform macular dystrophy 4
- p.Leu238Arg No assertion criteria vitelliform macular dystrophy 4
Pathogenic/Likely pathogenic 17
- c.1291+1G>T Multiple submitters retinitis pigmentosa
- c.1824+1G>A Multiple submitters benign concentric annular macular dystrophy
- c.807+1G>A Multiple submitters IMPG1-related disorder
- c.807+2T>A Multiple submitters IMPG1-related disorder
- p.Arg507Ter Multiple submitters IMPG1-related disorder
- p.Arg571Ter Multiple submitters IMPG1-related disorder
- p.Arg59Ter Multiple submitters IMPG1-related disorder
- p.Arg614Ter Multiple submitters IMPG1-related disorder
- p.Gln131Ter Multiple submitters IMPG1-related disorder
- p.Glu122fs Multiple submitters IMPG1-related disorder
- p.Glu521Ter Multiple submitters IMPG1-related disorder
- p.Gly141Ter Multiple submitters IMPG1-related disorder
- p.Gly463fs Multiple submitters IMPG1-related disorder
- p.Met51fs Multiple submitters IMPG1-related disorder
- p.Pro477fs Multiple submitters IMPG1-related disorder
- p.Thr305fs Multiple submitters IMPG1-related disorder
- p.Trp126Ter Multiple submitters IMPG1-related disorder
Likely pathogenic 23
- c.1212+2T>C Multiple submitters IMPG1-related disorder
- c.498-1G>C Multiple submitters IMPG1-related disorder
- c.1135+1G>T Single submitter
- c.1135+2T>C Single submitter
- c.1824+1G>T Single submitter inherited retinal dystrophy
- c.1824+2del Single submitter
- c.2045-14_2073del Single submitter
- c.302-7_302del Single submitter
- c.469-2A>G Single submitter IMPG1-related disorder
- c.562+1G>A Single submitter
- c.666+1G>C Single submitter IMPG1-related disorder
- c.667-39_713del Single submitter
- c.667-84_706del Single submitter
- c.68-1G>C Single submitter
- p.Ala510fs Single submitter IMPG1-related disorder
- p.Cys737Ter Single submitter IMPG1-related disorder
- p.Gln103Ter Single submitter inherited retinal dystrophy
- p.Gln88Ter Single submitter IMPG1-related disorder
- p.Glu84Ter Single submitter IMPG1-related disorder
- p.Gly511fs Single submitter vitelliform macular dystrophy 4
- p.Gly655fs Single submitter IMPG1-related disorder
- p.Ser320Arg Single submitter ⚠
- p.Thr551fs Single submitter IMPG1-related disorder
Conflicting classifications of pathogenicity 45
- c.2045-10T>A Single submitter
- c.468+6C>T Single submitter
- c.498-2A>G Single submitter
- c.667-10T>A Single submitter
- c.807+20A>G Single submitter
- c.807+5G>A Single submitter inherited retinal dystrophy
- c.888-12T>G Single submitter
- c.888-4_889dup Single submitter inherited retinal dystrophy
- p.Ala229Thr Single submitter ⚠
- p.Ala252Thr Single submitter ⚠
- p.Ala72Thr Single submitter inherited retinal dystrophy ⚠
- p.Arg116His Single submitter inherited retinal dystrophy ⚠
- p.Arg507Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg571Gln Single submitter ⚠
- p.Arg599Gln Single submitter ⚠
- p.Arg614Gln Single submitter ⚠
- p.Arg661His Single submitter vitelliform macular dystrophy 4 ⚠
- p.Arg704Gln Single submitter inherited retinal dystrophy ⚠
- p.Asn797= Single submitter
- p.Asp211Asn Single submitter ⚠
- p.Gln367Arg Single submitter inherited retinal dystrophy ⚠
- p.Glu178Asp Single submitter inherited retinal dystrophy ⚠
- p.Glu334Lys Single submitter inherited retinal dystrophy ⚠
- p.Gly694Ser Single submitter ⚠
- p.Ile36Val Single submitter ⚠
- p.Leu154Pro Single submitter IMPG1-related disorder ⚠
- p.Leu238Pro Single submitter IMPG1-related disorder ⚠
- p.Leu412Pro Single submitter ⚠
- p.Leu579Pro Single submitter benign concentric annular macular dystrophy ⚠
- p.Leu608Pro Single submitter IMPG1-related disorder ⚠
- p.Leu626Phe Single submitter benign concentric annular macular dystrophy ⚠
- p.Leu740Phe Single submitter ⚠
- p.Met515Ile Single submitter inherited retinal dystrophy ⚠
- p.Pro196Ser Single submitter inherited retinal dystrophy ⚠
- p.Pro385Ala Single submitter ⚠
- p.Pro448Leu Single submitter ⚠
- p.Pro530Thr Single submitter ⚠
- p.Ser256Cys Single submitter inherited retinal dystrophy ⚠
- p.Thr305Met Single submitter ⚠
- p.Thr339Asn Single submitter inherited retinal dystrophy ⚠
- p.Tyr258Cys Single submitter inherited retinal dystrophy ⚠
- p.Tyr349Cys Single submitter ⚠
- p.Tyr612Ter Single submitter IMPG1-related disorder
- p.Val18fs Single submitter
- p.Val784Ile Single submitter ⚠
Benign 23
- c.1824+8G>A Multiple submitters
- c.667-9del Multiple submitters
- p.Arg704Trp Multiple submitters inherited retinal dystrophy
- p.Arg711His Multiple submitters inherited retinal dystrophy
- p.Asp793Asn Multiple submitters inherited retinal dystrophy
- p.Gly424Glu Multiple submitters inherited retinal dystrophy
- p.His518Asp Multiple submitters vitelliform macular dystrophy 4
- p.Lys569Arg Multiple submitters inherited retinal dystrophy
- p.Ser761Asn Multiple submitters inherited retinal dystrophy
- p.Thr217Ile Multiple submitters inherited retinal dystrophy
- p.Val240Ile Multiple submitters inherited retinal dystrophy
- c.2316+3dup Single submitter
- c.667-10_667-9del Single submitter
- p.Ala319Val Single submitter inherited retinal dystrophy
- p.Ala652= Single submitter
- p.Arg58Lys Single submitter
- p.Asp471= Single submitter
- p.Gly180= Single submitter
- p.Gly463Val Single submitter
- p.Leu649Phe Single submitter
- p.Lys621= Single submitter inherited retinal dystrophy
- p.Ser487= Single submitter inherited retinal dystrophy
- p.Ser674Arg Single submitter inherited retinal dystrophy
Benign/Likely benign 8
- c.1292-7T>G Multiple submitters
- p.Ala708= Multiple submitters
- p.Asn191Ser Multiple submitters inherited retinal dystrophy
- p.Asn215= Multiple submitters
- p.Asn630= Multiple submitters inherited retinal dystrophy
- p.Met439Ile Multiple submitters
- p.Phe228= Multiple submitters inherited retinal dystrophy
- p.Pro646= Multiple submitters inherited retinal dystrophy
Likely benign 218
- c.1136-14dup Multiple submitters
- c.1824+13T>G Multiple submitters
- c.2044+4A>G Multiple submitters
- c.2045-19T>C Multiple submitters
- c.2316+8C>A Multiple submitters
- c.302-14A>T Multiple submitters
- c.497+9C>T Multiple submitters
- c.498-20C>T Multiple submitters
- c.666+10T>A Multiple submitters
- c.667-8A>T Multiple submitters
- c.67+19T>C Multiple submitters
- c.68-7T>C Multiple submitters
- c.807+12C>T Multiple submitters
- c.807+19T>C Multiple submitters
- c.807+8G>C Multiple submitters
- c.808-14C>A Multiple submitters
- c.867-10T>C Multiple submitters
- p.Ala440= Multiple submitters
- p.Arg41= Multiple submitters
- p.Arg614= Multiple submitters
- p.Asn191= Multiple submitters
- p.Asn588= Multiple submitters
- p.Asp216Asn Multiple submitters
- p.Asp321= Multiple submitters
- p.Asp390Gly Multiple submitters
- p.Asp423= Multiple submitters
- p.Asp505= Multiple submitters
- p.Asp723= Multiple submitters
- p.Cys693= Multiple submitters
- p.Gln17= Multiple submitters
- p.Gln557= Multiple submitters
- p.Gln604= Multiple submitters
- p.Glu707= Multiple submitters
- p.Glu709Gly Multiple submitters
- p.Gly631= Multiple submitters
- p.Leu210= Multiple submitters
- p.Leu251= Multiple submitters
- p.Leu677= Multiple submitters
- p.Pro530= Multiple submitters
- p.Pro82= Multiple submitters
- p.Ser506= Multiple submitters
- p.Ser537= Multiple submitters
- p.Ser71= Multiple submitters
- p.Thr21= Multiple submitters
- p.Thr305= Multiple submitters
- p.Thr397= Multiple submitters
- p.Thr5= Multiple submitters
- p.Tyr259= Multiple submitters
- p.Tyr97= Multiple submitters
- p.Val653= Multiple submitters
- c.1135+11G>T Single submitter
- c.1135+16C>T Single submitter
- c.1135+18T>G Single submitter
- c.1136-8A>C Single submitter
- c.1136-8A>G Single submitter
- c.1212+13T>G Single submitter
- c.1212+15C>T Single submitter
- c.1212+19T>C Single submitter
- c.1212+7T>C Single submitter
- c.1212+9G>C Single submitter
- c.1291+17A>G Single submitter
- c.1291+19A>G Single submitter
- c.1291+20G>A Single submitter
- c.1824+10C>T Single submitter
- c.1824+16T>C Single submitter
- c.1825-18C>T Single submitter
- c.2044+11C>A Single submitter
- c.2044+16C>A Single submitter
- c.2044+16C>T Single submitter
- c.2045-5T>C Single submitter
- c.2045-7del Single submitter
- c.2243+13T>C Single submitter
- c.2243+20G>A Single submitter
- c.2243+8A>G Single submitter
- c.2244-12T>C Single submitter
- c.2244-5T>C Single submitter
- c.2317-14T>G Single submitter
- c.301+12G>A Single submitter
- c.301+13A>G Single submitter
- c.301+14T>A Single submitter
- c.301+19C>G Single submitter
- c.302-13C>G Single submitter
- c.302-16T>C Single submitter
- c.468+11A>G Single submitter
- c.468+12C>G Single submitter
- c.468+19T>C Single submitter
- c.468+7C>T Single submitter
- c.468+8T>A Single submitter
- c.469-4G>A Single submitter
- c.497+18del Single submitter
- c.497+8C>T Single submitter
- c.498-11T>C Single submitter
- c.498-15C>A Single submitter
- c.498-7C>T Single submitter
- c.498-8A>G Single submitter
- c.562+10G>A Single submitter
- c.562+10G>C Single submitter
- c.562+19T>G Single submitter
- c.562+7T>G Single submitter
- c.563-4A>G Single submitter
- c.666+20G>A Single submitter
- c.667-22dup Single submitter
- c.667-6del Single submitter
- c.667-9T>A Single submitter
- c.68-12T>C Single submitter
- c.68-15A>G Single submitter
- c.68-19A>G Single submitter
- c.807+13G>A Single submitter
- c.807+16C>T Single submitter
- c.807+8G>A Single submitter
- c.808-13T>C Single submitter
- c.808-16T>C Single submitter
- c.808-31_808-19del Single submitter
- c.866+11G>A Single submitter
- c.866+14T>C Single submitter
- c.866+16A>G Single submitter
- c.866+8A>T Single submitter
- c.866+9G>C Single submitter
- c.867-14A>G Single submitter
- c.867-14A>T Single submitter
- c.887+17G>A Single submitter
- c.888-4A>G Single submitter
- c.888-7T>C Single submitter
- p.Ala229= Single submitter
- p.Ala447= Single submitter
- p.Ala567= Single submitter
- p.Ala663= Single submitter
- p.Ala664= Single submitter
- p.Ala665= Single submitter
- p.Ala72= Single submitter
- p.Ala8= Single submitter
- p.Asn627= Single submitter
- p.Asn636= Single submitter
- p.Asn702= Single submitter
- p.Asp115= Single submitter
- p.Asp211= Single submitter
- p.Asp253= Single submitter
- p.Asp354= Single submitter
- p.Asp370= Single submitter
- p.Asp390= Single submitter
- p.Asp461= Single submitter
- p.Asp514= Single submitter
- p.Asp793= Single submitter
- p.Cys737= Single submitter
- p.Gln148= Single submitter
- p.Gln234= Single submitter
- p.Gln367= Single submitter
- p.Gln792= Single submitter
- p.Glu225= Single submitter
- p.Glu364= Single submitter
- p.Glu426= Single submitter
- p.Glu597= Single submitter
- p.Gly195= Single submitter
- p.Gly264= Single submitter
- p.Gly478= Single submitter
- p.Gly512= Single submitter
- p.Gly694= Single submitter
- p.Gly728= Single submitter
- p.Gly731= Single submitter
- p.Gly733= Single submitter
- p.Gly77= Single submitter
- p.His654= Single submitter
- p.Ile117= Single submitter
- p.Ile140= Single submitter
- p.Ile283= Single submitter
- p.Ile28Thr Single submitter
- p.Ile481= Single submitter
- p.Ile559= Single submitter
- p.Ile625= Single submitter
- p.Leu205= Single submitter
- p.Leu206= Single submitter
- p.Leu358= Single submitter
- p.Leu384= Single submitter
- p.Leu536Ile Single submitter inherited retinal dystrophy
- p.Leu573= Single submitter
- p.Leu596= Single submitter
- p.Leu722= Single submitter
- p.Leu749= Single submitter
- p.Leu782= Single submitter
- p.Lys309= Single submitter
- p.Lys643= Single submitter
- p.Lys713= Single submitter
- p.Phe12= Single submitter
- p.Phe450= Single submitter
- p.Phe74= Single submitter
- p.Pro164= Single submitter
- p.Pro201= Single submitter
- p.Pro346= Single submitter
- p.Pro499= Single submitter
- p.Pro568= Single submitter
- p.Pro746= Single submitter
- p.Ser147= Single submitter
- p.Ser239= Single submitter
- p.Ser241= Single submitter
- p.Ser254= Single submitter
- p.Ser256= Single submitter
- p.Ser297= Single submitter
- p.Ser324= Single submitter
- p.Ser398= Single submitter
- p.Ser503= Single submitter
- p.Ser644= Single submitter
- p.Ser761= Single submitter
- p.Ser775= Single submitter
- p.Ser85= Single submitter
- p.Thr134= Single submitter
- p.Thr465= Single submitter
- p.Thr48= Single submitter
- p.Thr527= Single submitter
- p.Thr565= Single submitter
- p.Thr76= Single submitter
- p.Tyr29= Single submitter
- p.Tyr539= Single submitter
- p.Val11= Single submitter
- p.Val230= Single submitter
- p.Val240= Single submitter
- p.Val574= Single submitter
- p.Val762= Single submitter
- p.Leu524= No assertion criteria IMPG1-related disorder
Uncertain significance 480
Showing the top 300 by review status; the full set is in the sitemap.
- c.1213-15A>G Multiple submitters
- c.1292-3C>A Multiple submitters
- c.68-9_68-6del Multiple submitters
- p.Ala362Val Multiple submitters ⚠
- p.Ala386Asp Multiple submitters ⚠
- p.Ala453Val Multiple submitters ⚠
- p.Ala567Val Multiple submitters ⚠
- p.Arg111Gln Multiple submitters vitelliform macular dystrophy 4 ⚠
- p.Arg111Trp Multiple submitters ⚠
- p.Arg116Cys Multiple submitters ⚠
- p.Arg166= Multiple submitters
- p.Arg235Ser Multiple submitters ⚠
- p.Arg357Gly Multiple submitters ⚠
- p.Arg580Cys Multiple submitters inherited retinal dystrophy
- p.Arg580His Multiple submitters ⚠
- p.Arg59Gln Multiple submitters ⚠
- p.Arg59Gly Multiple submitters ⚠
- p.Arg614Pro Multiple submitters ⚠
- p.Arg661Cys Multiple submitters ⚠
- p.Arg70Gly Multiple submitters ⚠
- p.Asp168Gly Multiple submitters ⚠
- p.Asp23Asn Multiple submitters ⚠
- p.Asp295Asn Multiple submitters ⚠
- p.Asp461Gly Multiple submitters ⚠
- p.Asp466Gly Multiple submitters ⚠
- p.Asp520Gly Multiple submitters ⚠
- p.Asp589Asn Multiple submitters ⚠
- p.Asp62His Multiple submitters ⚠
- p.Cys130Arg Multiple submitters ⚠
- p.Cys130Ser Multiple submitters ⚠
- p.Cys710Tyr Multiple submitters ⚠
- p.Cys712Arg Multiple submitters ⚠
- p.Cys730Trp Multiple submitters ⚠
- p.Cys737Phe Multiple submitters ⚠
- p.Gln255His Multiple submitters ⚠
- p.Gln269Arg Multiple submitters ⚠
- p.Gln719Arg Multiple submitters ⚠
- p.Gln94Lys Multiple submitters ⚠
- p.Glu104Ala Multiple submitters ⚠
- p.Glu122Asp Multiple submitters ⚠
- p.Glu149Asp Multiple submitters ⚠
- p.Glu181Lys Multiple submitters ⚠
- p.Glu237Lys Multiple submitters ⚠
- p.Glu366Lys Multiple submitters ⚠
- p.Glu46Lys Multiple submitters ⚠
- p.Glu513Lys Multiple submitters IMPG1-related disorder ⚠
- p.Glu538Lys Multiple submitters ⚠
- p.Glu597Lys Multiple submitters ⚠
- p.Glu658Lys Multiple submitters ⚠
- p.Glu695Lys Multiple submitters inherited retinal dystrophy ⚠
- p.Glu703Lys Multiple submitters ⚠
- p.Gly141Ala Multiple submitters
- p.Gly287Arg Multiple submitters ⚠
- p.Gly631Arg Multiple submitters ⚠
- p.Gly655Arg Multiple submitters ⚠
- p.Gly724Ser Multiple submitters ⚠
- p.Gly728Val Multiple submitters ⚠
- p.Gly731Asp Multiple submitters ⚠
- p.His150Tyr Multiple submitters
- p.His337Arg Multiple submitters inherited retinal dystrophy ⚠
- p.His545Asn Multiple submitters ⚠
- p.His66Gln Multiple submitters ⚠
- p.Ile112Phe Multiple submitters ⚠
- p.Ile140Thr Multiple submitters
- p.Ile359Val Multiple submitters ⚠
- p.Ile60Leu Multiple submitters ⚠
- p.Ile625Met Multiple submitters ⚠
- p.Ile625Thr Multiple submitters ⚠
- p.Ile634Ser Multiple submitters ⚠
- p.Ile634Thr Multiple submitters
- p.Leu268Ile Multiple submitters inherited retinal dystrophy ⚠
- p.Leu322Phe Multiple submitters ⚠
- p.Leu613Pro Multiple submitters benign concentric annular macular dystrophy ⚠
- p.Leu670Arg Multiple submitters ⚠
- p.Leu722Pro Multiple submitters ⚠
- p.Lys167Thr Multiple submitters ⚠
- p.Lys282Asn Multiple submitters inherited retinal dystrophy ⚠
- p.Lys593Arg Multiple submitters ⚠
- p.Lys69Glu Multiple submitters
- p.Met1Ile Multiple submitters
- p.Met1Lys Multiple submitters
- p.Met302Thr Multiple submitters ⚠
- p.Met54Ile Multiple submitters ⚠
- p.Met57Val Multiple submitters inherited retinal dystrophy ⚠
- p.Met584Thr Multiple submitters vitelliform macular dystrophy 4 ⚠
- p.Phe325Ser Multiple submitters ⚠
- p.Phe628Leu Multiple submitters inherited retinal dystrophy ⚠
- p.Phe765Val Multiple submitters ⚠
- p.Pro179Arg Multiple submitters ⚠
- p.Pro396Ser Multiple submitters ⚠
- p.Pro39Ser Multiple submitters ⚠
- p.Pro410Thr Multiple submitters vitelliform macular dystrophy 4 ⚠
- p.Pro646Ala Multiple submitters ⚠
- p.Ser171Pro Multiple submitters ⚠
- p.Ser332Ile Multiple submitters ⚠
- p.Ser332Thr Multiple submitters ⚠
- p.Ser360Thr Multiple submitters vitelliform macular dystrophy 5 ⚠
- p.Ser383Thr Multiple submitters ⚠
- p.Ser484Arg Multiple submitters ⚠
- p.Ser490Asn Multiple submitters ⚠
- p.Ser637Gly Multiple submitters
- p.Ser662Phe Multiple submitters ⚠
- p.Ser718Thr Multiple submitters ⚠
- p.Ser775Asn Multiple submitters ⚠
- p.Thr217Ala Multiple submitters ⚠
- p.Thr403Ala Multiple submitters ⚠
- p.Thr44Ala Multiple submitters ⚠
- p.Thr45Ile Multiple submitters ⚠
- p.Thr465Ser Multiple submitters ⚠
- p.Thr560Ala Multiple submitters inherited retinal dystrophy ⚠
- p.Thr650Asn Multiple submitters ⚠
- p.Thr76Ala Multiple submitters ⚠
- p.Trp794Arg Multiple submitters ⚠
- p.Tyr29His Multiple submitters ⚠
- p.Tyr558Cys Multiple submitters ⚠
- p.Tyr96Phe Multiple submitters ⚠
- p.Tyr97His Multiple submitters ⚠
- p.Val11Ala Multiple submitters ⚠
- p.Val18Leu Multiple submitters ⚠
- p.Val192Ile Multiple submitters ⚠
- p.Val371Ala Multiple submitters ⚠
- p.Val516Ile Multiple submitters ⚠
- p.Val633Met Multiple submitters vitelliform macular dystrophy 4 ⚠
- c.1135+5G>A Single submitter retinitis pigmentosa
- c.1136-3T>C Single submitter
- c.1212+1G>T Single submitter inherited retinal dystrophy
- c.1212+6T>C Single submitter
- c.1758_1824+8del Single submitter
- c.2044+3A>G Single submitter
- c.2045-3C>G Single submitter
- c.2243+6T>G Single submitter
- c.2317-8_2317-3del Single submitter
- c.301+5G>T Single submitter
- c.468+4A>C Single submitter
- c.498-3T>C Single submitter
- c.498-9T>A Single submitter
- c.666+4A>T Single submitter
- c.667-3C>T Single submitter
- c.67+4A>G Single submitter
- c.68-3C>A Single submitter
- c.807+6T>A Single submitter
- c.807+6T>C Single submitter
- c.808-8_808-5del Single submitter
- p.Ala109Glu Single submitter ⚠
- p.Ala109Val Single submitter ⚠
- p.Ala190Thr Single submitter ⚠
- p.Ala249Val Single submitter ⚠
- p.Ala252Gly Single submitter ⚠
- p.Ala252Ser Single submitter ⚠
- p.Ala306Gly Single submitter ⚠
- p.Ala386Val Single submitter ⚠
- p.Ala400Pro Single submitter ⚠
- p.Ala447Thr Single submitter ⚠
- p.Ala501Thr Single submitter ⚠
- p.Ala501Val Single submitter ⚠
- p.Ala582Pro Single submitter ⚠
- p.Ala585Gly Single submitter ⚠
- p.Ala585Val Single submitter ⚠
- p.Ala642Pro Single submitter ⚠
- p.Ala682Asp Single submitter ⚠
- p.Ala692Thr Single submitter ⚠
- p.Ala692Val Single submitter ⚠
- p.Ala697Pro Single submitter ⚠
- p.Ala708Glu Single submitter ⚠
- p.Ala708Val Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Ala8Pro Single submitter ⚠
- p.Arg157Thr Single submitter ⚠
- p.Arg166Lys Single submitter inherited retinal dystrophy ⚠
- p.Arg224Ser Single submitter ⚠
- p.Arg41Ile Single submitter ⚠
- p.Arg599Gly Single submitter ⚠
- p.Arg599Leu Single submitter
- p.Arg599Ter Single submitter
- p.Arg661Leu Single submitter ⚠
- p.Arg67Gln Single submitter ⚠
- p.Arg711Cys Single submitter ⚠
- p.Asn146Lys Single submitter ⚠
- p.Asn191Lys Single submitter ⚠
- p.Asn215del Single submitter
- p.Asn244Lys Single submitter ⚠
- p.Asn27Ser Single submitter ⚠
- p.Asn588Ser Single submitter ⚠
- p.Asn636Ser Single submitter
- p.Asn636Thr Single submitter ⚠
- p.Asn648Lys Single submitter ⚠
- p.Asp115Tyr Single submitter ⚠
- p.Asp152Asn Single submitter ⚠
- p.Asp152His Single submitter ⚠
- p.Asp152Val Single submitter inherited retinal dystrophy ⚠
- p.Asp165Asn Single submitter ⚠
- p.Asp202Gly Single submitter ⚠
- p.Asp203Tyr Single submitter ⚠
- p.Asp211His Single submitter ⚠
- p.Asp23Val Single submitter ⚠
- p.Asp321Asn Single submitter ⚠
- p.Asp343His Single submitter ⚠
- p.Asp370Val Single submitter ⚠
- p.Asp378Gly Single submitter ⚠
- p.Asp405Asn Single submitter ⚠
- p.Asp405His Single submitter ⚠
- p.Asp405Tyr Single submitter ⚠
- p.Asp423Glu Single submitter ⚠
- p.Asp423Tyr Single submitter ⚠
- p.Asp431Ala Single submitter ⚠
- p.Asp505Val Single submitter ⚠
- p.Asp514Val Single submitter ⚠
- p.Asp520Asn Single submitter ⚠
- p.Asp526Glu Single submitter ⚠
- p.Asp62Asn Single submitter ⚠
- p.Asp659Val Single submitter ⚠
- p.Asp717Ala Single submitter ⚠
- p.Asp723Gly Single submitter ⚠
- p.Asp793Gly Single submitter ⚠
- p.Asp91Gly Single submitter ⚠
- p.Cys102Tyr Single submitter ⚠
- p.Cys688Arg Single submitter ⚠
- p.Cys710Arg Single submitter ⚠
- p.Cys712Tyr Single submitter ⚠
- p.Cys730Ser Single submitter ⚠
- p.Gln103Leu Single submitter ⚠
- p.Gln124Arg Single submitter ⚠
- p.Gln132Leu Single submitter ⚠
- p.Gln156Arg Single submitter ⚠
- p.Gln160His Single submitter ⚠
- p.Gln234Glu Single submitter ⚠
- p.Gln245Arg Single submitter ⚠
- p.Gln271Lys Single submitter ⚠
- p.Gln303Ter Single submitter
- p.Gln462Arg Single submitter ⚠
- p.Gln557Arg Single submitter ⚠
- p.Gln604Pro Single submitter ⚠
- p.Gln768fs Single submitter
- p.Gln769Glu Single submitter ⚠
- p.Gln769Ter Single submitter
- p.Gln792His Single submitter ⚠
- p.Gln88Lys Single submitter ⚠
- p.Glu108Gly Single submitter ⚠
- p.Glu108Lys Single submitter ⚠
- p.Glu122Lys Single submitter ⚠
- p.Glu169Gly Single submitter ⚠
- p.Glu225Val Single submitter ⚠
- p.Glu227Lys Single submitter ⚠
- p.Glu233Lys Single submitter ⚠
- p.Glu233Val Single submitter ⚠
- p.Glu237_Leu242del Single submitter vitelliform macular dystrophy 4
- p.Glu250Lys Single submitter ⚠
- p.Glu314Lys Single submitter ⚠
- p.Glu331Gln Single submitter ⚠
- p.Glu334Asp Single submitter inherited retinal dystrophy ⚠
- p.Glu379Lys Single submitter ⚠
- p.Glu416Gly Single submitter ⚠
- p.Glu426Lys Single submitter inherited retinal dystrophy ⚠
- p.Glu43Lys Single submitter ⚠
- p.Glu46Gln Single submitter ⚠
- p.Glu49Gly Single submitter ⚠
- p.Glu4Gly Single submitter ⚠
- p.Glu532Asp Single submitter ⚠
- p.Glu624Lys Single submitter ⚠
- p.Glu703Gln Single submitter ⚠
- p.Glu736Asp Single submitter ⚠
- p.Glu738Lys Single submitter ⚠
- p.Glu738Val Single submitter ⚠
- p.Glu780fs Single submitter
- p.Glu788Asp Single submitter ⚠
- p.Glu788Ter Single submitter vitelliform macular dystrophy 4
- p.Glu795Lys Single submitter ⚠
- p.Gly180Ala Single submitter ⚠
- p.Gly195Glu Single submitter ⚠
- p.Gly264Ala Single submitter ⚠
- p.Gly424Arg Single submitter ⚠
- p.Gly478Glu Single submitter ⚠
- p.Gly619Arg Single submitter inherited retinal dystrophy ⚠
- p.Gly728Asp Single submitter ⚠
- p.Gly77Glu Single submitter
- p.His150Asn Single submitter ⚠
- p.His150Gln Single submitter ⚠
- p.His284Tyr Single submitter ⚠
- p.His337Leu Single submitter ⚠
- p.His337Pro Single submitter ⚠
- p.His498Gln Single submitter ⚠
- p.His669Asn Single submitter ⚠
- p.His66Arg Single submitter ⚠
- p.His791Asp Single submitter ⚠
- p.Ile140Phe Single submitter ⚠
- p.Ile140Val Single submitter ⚠
- p.Ile170Thr Single submitter ⚠
- p.Ile183Thr Single submitter ⚠
- p.Ile209Thr Single submitter ⚠
- p.Ile28Val Single submitter ⚠
- p.Ile359Thr Single submitter ⚠
- p.Ile374Met Single submitter ⚠
- p.Ile380Val Single submitter ⚠
- p.Ile489Val Single submitter ⚠
- p.Ile559Ser Single submitter ⚠
- p.Ile672Arg Single submitter ⚠
- p.Ile9Val Single submitter ⚠
- p.Leu137Ile Single submitter ⚠
- p.Leu137Phe Single submitter ⚠
- p.Leu205Phe Single submitter ⚠