IMPG2 — 1188 ClinVar variants
All ClinVar germline IMPG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 552 flagged for review →
63 Pathogenic · 30 Pathogenic/Likely pathogenic · 63 Likely pathogenic · 63 Conflicting · 20 Benign · 8 Benign/Likely benign · 275 Likely benign · 666 Uncertain significance
Full IMPG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 552
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 29
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
IMPG2 p.Ala1168Gly
Conflicting
Single submitter
retinitis pigmentosa
-
IMPG2 p.Ala407Ser
Conflicting
Single submitter
inherited retinal dystrophy
-
IMPG2 p.Ala625Ser
Conflicting
Single submitter
Inborn genetic diseases
-
IMPG2 p.Ala625Thr
Conflicting
Single submitter
Inborn genetic diseases
-
IMPG2 p.Arg1048Trp
Conflicting
Single submitter
retinitis pigmentosa
-
IMPG2 p.Arg131His
Conflicting
Single submitter
retinitis pigmentosa
-
IMPG2 p.Arg390His
Conflicting
Single submitter
inherited retinal dystrophy
-
IMPG2 p.Arg844Gln
Conflicting
Single submitter
Inborn genetic diseases
- IMPG2 p.Asn384Ser Conflicting Single submitter
-
IMPG2 p.Asn415Asp
Conflicting
Single submitter
Inborn genetic diseases
-
IMPG2 p.Asn518Ser
Conflicting
Single submitter
retinitis pigmentosa
-
IMPG2 p.Cys1019Tyr
Conflicting
Single submitter
IMPG2-related disorders
-
IMPG2 p.Cys1038Phe
Conflicting
Single submitter
IMPG2-related disorders
-
IMPG2 p.Glu213Asp
Conflicting
Single submitter
Inborn genetic diseases
-
IMPG2 p.Gly1065Arg
Conflicting
Single submitter
IMPG2-related disorders
-
IMPG2 p.Ile1120Val
Conflicting
Single submitter
Inborn genetic diseases
-
IMPG2 p.Ile528Val
Conflicting
Single submitter
inherited retinal dystrophy
-
IMPG2 p.Phe121Leu
Conflicting
Single submitter
Inborn genetic diseases
-
IMPG2 p.Phe124Leu
Conflicting
Single submitter
IMPG2-related disorders
-
IMPG2 p.Phe7Leu
Conflicting
Single submitter
inherited retinal dystrophy
-
IMPG2 p.Pro1147Ser
Conflicting
Single submitter
retinitis pigmentosa
-
IMPG2 p.Pro499Thr
Conflicting
Single submitter
retinitis pigmentosa
- IMPG2 p.Ser753Leu Conflicting Single submitter
-
IMPG2 p.Ser811Ala
Conflicting
Single submitter
retinitis pigmentosa
-
IMPG2 p.Ser958Gly
Conflicting
Single submitter
vitelliform macular dystrophy 2
-
IMPG2 p.Thr408Met
Conflicting
Single submitter
retinitis pigmentosa
-
IMPG2 p.Thr461Arg
Conflicting
Single submitter
inherited retinal dystrophy
-
IMPG2 p.Tyr1042Cys
Conflicting
Single submitter
inherited retinal dystrophy
-
IMPG2 p.Val305Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 463
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 463
-
IMPG2 p.Ala1129Gly
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- IMPG2 p.Ala116Ser Uncertain significance Multiple submitters
-
IMPG2 p.Ala1230Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ala1231Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ala207Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ala280Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ala419Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Ala444Thr Uncertain significance Multiple submitters
-
IMPG2 p.Ala686Thr
Uncertain significance
Multiple submitters
vitelliform macular dystrophy 5
-
IMPG2 p.Ala691Thr
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
IMPG2 p.Ala698Val
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
IMPG2 p.Ala741Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ala978Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ala978Val
Uncertain significance
Multiple submitters
retinitis pigmentosa
- IMPG2 p.Ala997Thr Uncertain significance Multiple submitters
-
IMPG2 p.Arg1048Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Arg1078Ser Uncertain significance Multiple submitters
-
IMPG2 p.Arg1088Gln
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- IMPG2 p.Arg291Cys Uncertain significance Multiple submitters
- IMPG2 p.Arg291His Uncertain significance Multiple submitters
- IMPG2 p.Arg355Thr Uncertain significance Multiple submitters
-
IMPG2 p.Arg80Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Arg80Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Arg844Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Asn225Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Asn518Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Asn969Ser Uncertain significance Multiple submitters
- IMPG2 p.Asp1004Val Uncertain significance Multiple submitters
-
IMPG2 p.Asp1148Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Asp395Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Asp414Tyr Uncertain significance Multiple submitters
-
IMPG2 p.Asp610Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Asp737Asn Uncertain significance Multiple submitters
-
IMPG2 p.Asp829Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Cys1067Ser Uncertain significance Multiple submitters
- IMPG2 p.Gln64Leu Uncertain significance Multiple submitters
- IMPG2 p.Glu1228Gln Uncertain significance Multiple submitters
-
IMPG2 p.Glu1235Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
IMPG2 p.Glu256Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Glu256Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Glu340Lys Uncertain significance Multiple submitters
-
IMPG2 p.Glu37Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Glu448Lys Uncertain significance Multiple submitters
-
IMPG2 p.Glu622Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Glu752Gln Uncertain significance Multiple submitters
-
IMPG2 p.Glu762Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Glu791Gly
Uncertain significance
Multiple submitters
retinitis pigmentosa
- IMPG2 p.Glu99Lys Uncertain significance Multiple submitters
- IMPG2 p.Gly1074Arg Uncertain significance Multiple submitters
-
IMPG2 p.Gly130Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Gly210Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Gly22Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Gly315Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Gly471Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Gly684Arg
Uncertain significance
Multiple submitters
retinitis pigmentosa 56
-
IMPG2 p.Gly860Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Gly88Arg Uncertain significance Multiple submitters
-
IMPG2 p.Gly88Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
IMPG2 p.His266Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.His391Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
IMPG2 p.His705Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ile1102Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ile1119Val
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
IMPG2 p.Ile412Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ile545Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ile706Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ile776Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ile77Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ile845Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ile951Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Leu1112Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Leu1194Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Leu19Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Leu396Pro
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
IMPG2 p.Leu569Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Leu649Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Leu818Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Leu842Met
Uncertain significance
Multiple submitters
vitelliform macular dystrophy 5
- IMPG2 p.Lys236Arg Uncertain significance Multiple submitters
-
IMPG2 p.Lys966Arg
Uncertain significance
Multiple submitters
retinitis pigmentosa 56
-
IMPG2 p.Met747Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Met877Ile Uncertain significance Multiple submitters
- IMPG2 p.Met877Leu Uncertain significance Multiple submitters
-
IMPG2 p.Phe1060Cys
Uncertain significance
Multiple submitters
retinitis pigmentosa 56
- IMPG2 p.Phe245Val Uncertain significance Multiple submitters
- IMPG2 p.Phe4Ile Uncertain significance Multiple submitters
-
IMPG2 p.Pro1058Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Pro1147Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Pro1161Leu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- IMPG2 p.Pro1161Thr Uncertain significance Multiple submitters
- IMPG2 p.Pro237Leu Uncertain significance Multiple submitters
-
IMPG2 p.Pro409Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Pro409Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Pro422Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Pro434Ser
Uncertain significance
Multiple submitters
retinitis pigmentosa 56
-
IMPG2 p.Pro442Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Pro491Leu Uncertain significance Multiple submitters
-
IMPG2 p.Pro631Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Pro681Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Pro721Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Pro768Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Pro972Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Ser1044Thr Uncertain significance Multiple submitters
- IMPG2 p.Ser11Tyr Uncertain significance Multiple submitters
- IMPG2 p.Ser199Gly Uncertain significance Multiple submitters
-
IMPG2 p.Ser246Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ser438Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ser451Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Ser453Arg Uncertain significance Multiple submitters
-
IMPG2 p.Ser468Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ser535Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ser574Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ser605Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ser716Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ser839Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ser879Thr
Uncertain significance
Multiple submitters
vitelliform macular dystrophy 5
-
IMPG2 p.Ser921Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ser963Gly
Uncertain significance
Multiple submitters
vitelliform macular dystrophy 5
-
IMPG2 p.Thr196Ala
Uncertain significance
Multiple submitters
retinitis pigmentosa 56
- IMPG2 p.Thr322Asn Uncertain significance Multiple submitters
-
IMPG2 p.Thr350Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Thr490Ile Uncertain significance Multiple submitters
-
IMPG2 p.Thr537Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Thr537Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Thr751Ala Uncertain significance Multiple submitters
-
IMPG2 p.Thr884Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Thr893Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Thr908Ile Uncertain significance Multiple submitters
-
IMPG2 p.Tyr756Cys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
IMPG2 p.Tyr924Cys
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
IMPG2 p.Val105Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Val1100Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Val1109Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Val1162Met
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
IMPG2 p.Val493Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Val831Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Val835Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Val872Ile Uncertain significance Multiple submitters
-
IMPG2 p.Val900Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Val961Met Uncertain significance Multiple submitters
-
IMPG2 p.Val975Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Ala1129Val Uncertain significance Single submitter
- IMPG2 p.Ala172Thr Uncertain significance Single submitter
- IMPG2 p.Ala207Ser Uncertain significance Single submitter
- IMPG2 p.Ala234Asp Uncertain significance Single submitter
- IMPG2 p.Ala310Thr Uncertain significance Single submitter
- IMPG2 p.Ala44Gly Uncertain significance Single submitter
-
IMPG2 p.Ala59Gly
Uncertain significance
Single submitter
inherited retinal dystrophy
-
IMPG2 p.Ala739Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- IMPG2 p.Ala799Val Uncertain significance Single submitter
Predictors split 60
The independent predictors disagree with each other — read with care.
- IMPG2 p.Ala243Glu Uncertain significance Multiple submitters
-
IMPG2 p.Arg1080Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Arg111Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Asn953Ser Uncertain significance Multiple submitters
-
IMPG2 p.Asp324His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Gln940Arg Uncertain significance Multiple submitters
-
IMPG2 p.Leu1003Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Lys1015Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Pro1040Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Pro93Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Ser319Arg
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
IMPG2 p.Ser439Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Ser726Cys Uncertain significance Multiple submitters
-
IMPG2 p.Ser941Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IMPG2 p.Thr944Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IMPG2 p.Ala1018Val Uncertain significance Single submitter
-
IMPG2 p.Ala243Pro
Conflicting
Single submitter
inherited retinal dystrophy
- IMPG2 p.Arg1080Pro Uncertain significance Single submitter
- IMPG2 p.Arg127Gln Uncertain significance Single submitter
-
IMPG2 p.Arg131Cys
Conflicting
Single submitter
inherited retinal dystrophy
-
IMPG2 p.Arg964Gln
Conflicting
Single submitter
Inborn genetic diseases
- IMPG2 p.Asn1012Ile Uncertain significance Single submitter
- IMPG2 p.Asp1055Asn Uncertain significance Single submitter
-
IMPG2 p.Asp324Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IMPG2 p.Gln114Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- IMPG2 p.Glu1093Lys Uncertain significance Single submitter
- IMPG2 p.Glu150Lys Uncertain significance Single submitter
- IMPG2 p.Glu334Lys Uncertain significance Single submitter
-
IMPG2 p.Gly1008Asp
Conflicting
Single submitter
inherited retinal dystrophy
-
IMPG2 p.Gly945Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- IMPG2 p.His104Arg Uncertain significance Single submitter
- IMPG2 p.His104Tyr Uncertain significance Single submitter
- IMPG2 p.Ile290Asn Uncertain significance Single submitter
- IMPG2 p.Leu1062Ser Uncertain significance Single submitter
- IMPG2 p.Leu140Phe Uncertain significance Single submitter
-
IMPG2 p.Leu249Phe
Conflicting
Single submitter
retinitis pigmentosa 56
- IMPG2 p.Met151Thr Uncertain significance Single submitter
- IMPG2 p.Phe1232Ser Uncertain significance Single submitter
- IMPG2 p.Phe273Leu Uncertain significance Single submitter
-
IMPG2 p.Phe313Leu
Uncertain significance
Single submitter
retinitis pigmentosa
- IMPG2 p.Phe85Leu Uncertain significance Single submitter
- IMPG2 p.Phe903Leu Uncertain significance Single submitter
-
IMPG2 p.Pro1013Leu
Conflicting
Single submitter
retinitis pigmentosa
- IMPG2 p.Pro86Thr Uncertain significance Single submitter
- IMPG2 p.Pro93Leu Uncertain significance Single submitter
- IMPG2 p.Ser1195Arg Uncertain significance Single submitter
- IMPG2 p.Ser156Asn Uncertain significance Single submitter
- IMPG2 p.Ser263Arg Uncertain significance Single submitter
-
IMPG2 p.Ser330Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- IMPG2 p.Ser453Cys Uncertain significance Single submitter
- IMPG2 p.Ser474Cys Uncertain significance Single submitter
- IMPG2 p.Ser574Cys Uncertain significance Single submitter
-
IMPG2 p.Thr944Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- IMPG2 p.Trp323Cys Uncertain significance Single submitter
-
IMPG2 p.Val1096Met
Uncertain significance
Single submitter
Inborn genetic diseases
- IMPG2 p.Val112Leu Uncertain significance Single submitter
- IMPG2 p.Val311Leu Uncertain significance Single submitter
- IMPG2 p.Val971Gly Uncertain significance Single submitter
-
IMPG2 p.Ser815Cys
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
IMPG2 p.Thr282Pro
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All IMPG2 variants
Pathogenic 63
- p.Arg127Ter Multiple submitters IMPG2-related disorders
- p.Arg906Ter Multiple submitters IMPG2-related disorders
- p.Arg964Ter Multiple submitters IMPG2-related disorders
- p.Asp23fs Multiple submitters IMPG2-related disorders
- p.Cys1077fs Multiple submitters IMPG2-related disorders
- p.Gln363Ter Multiple submitters retinitis pigmentosa 56
- p.Gln856Ter Multiple submitters inherited retinal dystrophy
- p.Glu757fs Multiple submitters
- p.Leu1053_Cys1054insTer Multiple submitters IMPG2-related disorders
- p.Ser527fs Multiple submitters inherited retinal dystrophy
- p.Val553fs Multiple submitters vitelliform macular dystrophy 5
- c.1544-2A>C Single submitter retinitis pigmentosa 56
- c.533+4_533+7del Single submitter retinitis pigmentosa
- p.Ala1075fs Single submitter retinitis pigmentosa
- p.Arg111Ter Single submitter
- p.Arg68fs Single submitter inherited retinal dystrophy
- p.Arg73fs Single submitter
- p.Asn956fs Single submitter IMPG2-related disorders
- p.Cys1019fs Single submitter retinal disorder
- p.Cys1050fs Single submitter
- p.Gln1057Ter Single submitter
- p.Gln1179Ter Single submitter
- p.Gln579Ter Single submitter
- p.Gln64fs Single submitter
- p.Gln854Ter Single submitter
- p.Gln947Ter Single submitter
- p.Glu1033fs Single submitter
- p.Glu1033Ter Single submitter inherited retinal dystrophy
- p.Glu1137fs Single submitter retinitis pigmentosa 56
- p.Glu233Ter Single submitter retinal disorder
- p.Glu272Ter Single submitter
- p.Glu316fs Single submitter
- p.Glu426fs Single submitter
- p.Glu680fs Single submitter
- p.Glu828fs Single submitter
- p.Glu933Ter Single submitter
- p.Glu95Ter Single submitter
- p.Gly152Asp Single submitter vitelliform macular dystrophy 2
- p.Gly515Ter Single submitter
- p.Gly88fs Single submitter
- p.Leu1150fs Single submitter
- p.Leu449fs Single submitter inherited retinal dystrophy
- p.Leu498fs Single submitter retinitis pigmentosa 56
- p.Lys62fs Single submitter
- p.Lys63fs Single submitter retinitis pigmentosa
- p.Lys919Ter Single submitter
- p.Pro86fs Single submitter
- p.Ser212fs Single submitter retinitis pigmentosa
- p.Ser403Ter Single submitter
- p.Ser707Ter Single submitter
- p.Trp450Ter Single submitter
- p.Tyr1042Ter Single submitter
- p.Tyr349fs Single submitter retinitis pigmentosa
- p.Tyr357Ter Single submitter
- p.Tyr715fs Single submitter inherited retinal dystrophy
- p.Val45fs Single submitter
- c.3714-2A>T No assertion criteria inherited retinal dystrophy
- c.909-802_1154-539del No assertion criteria Autosomal recessive retinitis pigmentosa
- p.Gly606fs No assertion criteria inherited retinal dystrophy
- p.Ser212Ter No assertion criteria retinitis pigmentosa
- p.Trp774Ter No assertion criteria inherited retinal dystrophy
- p.Tyr560Ter No assertion criteria inherited retinal dystrophy
- p.Val609fs No assertion criteria retinitis pigmentosa 56
Pathogenic/Likely pathogenic 30
- c.1240-2A>G Multiple submitters IMPG2-related disorders
- c.3023-6_3030dup Multiple submitters IMPG2-related disorders
- c.583+1G>C Multiple submitters retinitis pigmentosa 56
- c.667-1G>A Multiple submitters IMPG2-related disorders
- c.828+1G>A Multiple submitters retinitis pigmentosa 56
- c.829-1G>T Multiple submitters IMPG2-related disorders
- c.829-2A>T Multiple submitters cone-rod dystrophy
- p.Arg1088Ter Multiple submitters IMPG2-related disorders
- p.Asn755_Tyr756insTer Multiple submitters IMPG2-related disorders
- p.Gln495Ter Multiple submitters IMPG2-related disorders
- p.Gln607fs Multiple submitters IMPG2-related disorders
- p.Gln814Ter Multiple submitters IMPG2-related disorders
- p.Glu1164Ter Multiple submitters inherited retinal dystrophy
- p.Glu226Ter Multiple submitters IMPG2-related disorders
- p.Glu745fs Multiple submitters retinitis pigmentosa 56
- p.Glu914fs Multiple submitters IMPG2-related disorders
- p.Ile14_Leu15insTer Multiple submitters IMPG2-related recessive retinopathy
- p.Leu367fs Multiple submitters IMPG2-related disorders
- p.Leu601Ter Multiple submitters IMPG2-related disorders
- p.Lys1158Ter Multiple submitters
- p.Phe437fs Multiple submitters IMPG2-related disorders
- p.Ser522Ter Multiple submitters inherited retinal dystrophy
- p.Ser530Ter Multiple submitters IMPG2-related disorders
- p.Ser804_Ala805insTer Multiple submitters IMPG2-related disorders
- p.Trp137Ter Multiple submitters IMPG2-related disorders
- p.Trp421Ter Multiple submitters IMPG2-related disorders
- p.Trp758Ter Multiple submitters IMPG2-related disorders
- p.Trp75Ter Multiple submitters IMPG2-related disorders
- p.Tyr1001_Ser1002delinsTer Multiple submitters IMPG2-related disorders
- p.Tyr171Ter Multiple submitters IMPG2-related disorders
Likely pathogenic 63
- c.1240-1G>A Multiple submitters IMPG2-related disorders
- c.502-2A>G Multiple submitters IMPG2-related disorders
- p.Leu580Ter Multiple submitters IMPG2-related disorders
- p.Phe1016Ser Multiple submitters IMPG2-related disorders
- c.1153+1G>A Single submitter
- c.1153+1G>C Single submitter
- c.1239+2T>A Single submitter
- c.1240-1G>C Single submitter
- c.1543+1G>A Single submitter IMPG2-related disorders
- c.3233+1G>A Single submitter
- c.334+2T>C Single submitter
- c.335-1G>A Single submitter IMPG2-related disorders
- c.3633+1G>T Single submitter
- c.501+1G>A Single submitter
- c.533+1G>A Single submitter
- c.584-1G>T Single submitter IMPG2-related disorders
- c.666+2T>G Single submitter
- c.666+3_666+16del Single submitter IMPG2-related disorders
- c.81_85+7delinsT Single submitter IMPG2-related disorders
- c.829-1_840del Single submitter
- c.829-2A>G Single submitter
- c.829-3_829-1delinsT Single submitter retinitis pigmentosa 56
- c.85+2T>A Single submitter IMPG2-related disorders
- c.85+3A>G Single submitter IMPG2-related disorders
- c.887+1G>A Single submitter IMPG2-related disorders
- c.887+430_908+274del Single submitter inherited retinal dystrophy
- c.888-1G>T Single submitter
- c.888-2A>G Single submitter
- c.908+1G>A Single submitter
- p.Arg127Pro Single submitter vitelliform macular dystrophy 5
- p.Arg386Ter Single submitter IMPG2-related disorders
- p.Arg782fs Single submitter retinitis pigmentosa 56
- p.Asn953fs Single submitter IMPG2-related disorders
- p.Asp195fs Single submitter IMPG2-related disorders
- p.Cys1077Phe Single submitter inherited retinal dystrophy
- p.Gln1201fs Single submitter inherited retinal dystrophy
- p.Gln30fs Single submitter inherited retinal dystrophy
- p.Glu160Ter Single submitter vitelliform macular dystrophy 3
- p.Glu276Ter Single submitter IMPG2-related disorders
- p.Glu40Ter Single submitter IMPG2-related disorders
- p.Gly1188Ter Single submitter IMPG2-related disorders
- p.Gly286fs Single submitter IMPG2-related disorders
- p.Gly897fs Single submitter IMPG2-related disorders
- p.His104fs Single submitter IMPG2-related disorders
- p.Ile351fs Single submitter IMPG2-related disorders
- p.Ile689fs Single submitter IMPG2-related disorders
- p.Leu1003fs Single submitter IMPG2-related disorders
- p.Leu773fs Single submitter retinitis pigmentosa 56
- p.Lys109Ter Single submitter inherited retinal dystrophy
- p.Ser191Ter Single submitter IMPG2-related disorders
- p.Ser26Ter Single submitter IMPG2-related disorders
- p.Ser443fs Single submitter IMPG2-related disorders
- p.Ser482Ter Single submitter IMPG2-related disorders
- p.Tyr1001Ter Single submitter IMPG2-related disorders
- p.Tyr1177Ter Single submitter IMPG2-related disorders
- p.Tyr308fs Single submitter IMPG2-related disorders
- p.Tyr991Ter Single submitter IMPG2-related disorders
- p.Ala1107Asp No assertion criteria inherited retinal dystrophy
- p.Asn976fs No assertion criteria retinitis pigmentosa
- p.Leu939His No assertion criteria vitelliform macular dystrophy 5
- p.Ser403fs No assertion criteria inherited retinal dystrophy
- p.Thr490fs No assertion criteria retinitis pigmentosa 56
- p.Trp809Ter No assertion criteria retinitis pigmentosa
Conflicting classifications of pathogenicity 63
- c.1154-3C>T Single submitter
- c.1240-12T>A Single submitter inherited retinal dystrophy
- c.1543+5G>C Single submitter IMPG2-related disorders
- c.2803-14T>G Single submitter retinitis pigmentosa
- c.3233+8_3233+45del Single submitter
- c.335-13C>T Single submitter retinitis pigmentosa
- c.3423-7_3423-4del Single submitter IMPG2-related disorders
- c.3713+5G>A Single submitter
- c.501+5G>A Single submitter retinitis pigmentosa 56
- c.534-13dup Single submitter
- c.666+5G>A Single submitter retinitis pigmentosa
- c.887+10C>T Single submitter retinitis pigmentosa
- c.*685A>G Single submitter retinitis pigmentosa
- p.Ala1168Gly Single submitter retinitis pigmentosa ⚠
- p.Ala243Pro Single submitter inherited retinal dystrophy ⚠
- p.Ala407Ser Single submitter inherited retinal dystrophy ⚠
- p.Ala625Ser Single submitter Inborn genetic diseases ⚠
- p.Ala625Thr Single submitter Inborn genetic diseases ⚠
- p.Ala642= Single submitter
- p.Arg1048Trp Single submitter retinitis pigmentosa ⚠
- p.Arg131Cys Single submitter inherited retinal dystrophy ⚠
- p.Arg131His Single submitter retinitis pigmentosa ⚠
- p.Arg390His Single submitter inherited retinal dystrophy ⚠
- p.Arg844Gln Single submitter Inborn genetic diseases ⚠
- p.Arg964Gln Single submitter Inborn genetic diseases ⚠
- p.Asn384Ser Single submitter ⚠
- p.Asn415Asp Single submitter Inborn genetic diseases ⚠
- p.Asn518Ser Single submitter retinitis pigmentosa ⚠
- p.Asp1189= Single submitter inherited retinal dystrophy
- p.Asp324= Single submitter retinitis pigmentosa
- p.Asp55= Single submitter retinitis pigmentosa
- p.Asp598= Single submitter
- p.Cys1019Tyr Single submitter IMPG2-related disorders ⚠
- p.Cys1038Phe Single submitter IMPG2-related disorders ⚠
- p.Glu1212Ter Single submitter IMPG2-related disorders
- p.Glu213Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1008Asp Single submitter inherited retinal dystrophy ⚠
- p.Gly1065Arg Single submitter IMPG2-related disorders ⚠
- p.Ile1120Val Single submitter Inborn genetic diseases ⚠
- p.Ile528Val Single submitter inherited retinal dystrophy ⚠
- p.Leu19= Single submitter retinitis pigmentosa
- p.Leu249Phe Single submitter retinitis pigmentosa 56 ⚠
- p.Leu934= Single submitter retinitis pigmentosa
- p.Leu949= Single submitter retinitis pigmentosa
- p.Phe121Leu Single submitter Inborn genetic diseases ⚠
- p.Phe124Leu Single submitter IMPG2-related disorders ⚠
- p.Phe7Leu Single submitter inherited retinal dystrophy ⚠
- p.Pro1013Leu Single submitter retinitis pigmentosa ⚠
- p.Pro1147Ser Single submitter retinitis pigmentosa ⚠
- p.Pro377= Single submitter
- p.Pro499Thr Single submitter retinitis pigmentosa ⚠
- p.Pro631= Single submitter retinitis pigmentosa
- p.Ser1187= Single submitter inherited retinal dystrophy
- p.Ser753Leu Single submitter ⚠
- p.Ser811Ala Single submitter retinitis pigmentosa ⚠
- p.Ser958Gly Single submitter vitelliform macular dystrophy 2 ⚠
- p.Thr408Met Single submitter retinitis pigmentosa ⚠
- p.Thr461Arg Single submitter inherited retinal dystrophy ⚠
- p.Tyr1042= Single submitter retinitis pigmentosa
- p.Tyr1042Cys Single submitter inherited retinal dystrophy ⚠
- p.Val305Ile Single submitter Inborn genetic diseases ⚠
- p.Val576= Single submitter retinitis pigmentosa
- p.Val900= Single submitter retinitis pigmentosa
Benign 20
- c.666+10G>A Multiple submitters retinitis pigmentosa
- c.828+17_828+18insC Multiple submitters retinitis pigmentosa 56
- c.85+25T>G Multiple submitters vitelliform macular dystrophy 5
- c.*1589A>G Multiple submitters retinitis pigmentosa
- c.*1737T>C Multiple submitters retinitis pigmentosa
- c.*2917G>A Multiple submitters retinitis pigmentosa
- c.*3780T>A Multiple submitters retinitis pigmentosa
- c.*380C>A Multiple submitters retinitis pigmentosa
- c.*4121T>G Multiple submitters retinitis pigmentosa
- c.*568C>A Multiple submitters retinitis pigmentosa
- c.*881T>C Multiple submitters retinitis pigmentosa
- p.Glu174Ala Multiple submitters
- p.Leu1127= Multiple submitters inherited retinal dystrophy
- p.Thr674Ile Multiple submitters vitelliform macular dystrophy 5
- c.1239+10del Single submitter
- c.1239+17del Single submitter
- c.1240-9del Single submitter
- c.3634-8del Single submitter
- c.85+11dup Single submitter
- c.*2278C>G Single submitter retinitis pigmentosa
Benign/Likely benign 8
- c.1240-3del Multiple submitters
- c.1240-9dup Multiple submitters
- c.1544-20A>C Multiple submitters
- c.828+17A>C Multiple submitters
- c.828+20del Multiple submitters
- p.Asp636= Multiple submitters retinitis pigmentosa
- p.Pro409= Multiple submitters
- p.Pro41= Multiple submitters
Likely benign 275
- c.1240-17C>G Multiple submitters
- c.1543+16T>G Multiple submitters
- c.2802+7A>G Multiple submitters
- c.335-16_335-15del Multiple submitters
- c.335-20A>C Multiple submitters
- c.3423-18A>G Multiple submitters
- c.3714-14T>C Multiple submitters
- c.501+11C>T Multiple submitters
- c.501+7G>A Multiple submitters
- c.533+15T>C Multiple submitters
- c.533+19C>G Multiple submitters
- c.85+9A>T Multiple submitters
- p.Ala698= Multiple submitters
- p.Arg1200= Multiple submitters
- p.Arg807= Multiple submitters
- p.Asn974= Multiple submitters
- p.Asp206= Multiple submitters
- p.Cys92= Multiple submitters
- p.Glu1083= Multiple submitters
- p.Glu594= Multiple submitters
- p.Gly1142= Multiple submitters
- p.Gly1169= Multiple submitters
- p.Gly1193= Multiple submitters
- p.His1073= Multiple submitters inherited retinal dystrophy
- p.His1131= Multiple submitters inherited retinal dystrophy
- p.Leu569= Multiple submitters
- p.Leu983= Multiple submitters
- p.Lys623= Multiple submitters
- p.Phe676= Multiple submitters
- p.Phe690= Multiple submitters
- p.Phe946= Multiple submitters
- p.Pro1161= Multiple submitters
- p.Ser1151= Multiple submitters
- p.Ser410= Multiple submitters
- p.Ser482= Multiple submitters
- p.Ser624= Multiple submitters
- p.Ser82= Multiple submitters
- p.Thr175= Multiple submitters inherited retinal dystrophy
- p.Thr408= Multiple submitters
- p.Tyr560= Multiple submitters
- p.Tyr560Phe Multiple submitters
- p.Tyr715= Multiple submitters
- p.Val478= Multiple submitters
- p.Val763= Multiple submitters
- p.Val880Met Multiple submitters
- c.1154-13G>C Single submitter
- c.1239+18A>T Single submitter
- c.1239+20G>C Single submitter
- c.1240-10T>A Single submitter
- c.1240-9_1240-8insTTTTTTTTT Single submitter
- c.1240-9T>C Single submitter
- c.1543+7A>C Single submitter
- c.1544-15A>T Single submitter
- c.1544-16A>G Single submitter
- c.1544-18G>T Single submitter
- c.2802+14G>A Single submitter
- c.2803-11G>A Single submitter
- c.2803-5T>C Single submitter
- c.3022+18A>G Single submitter
- c.3022+19T>A Single submitter
- c.3023-18C>A Single submitter
- c.3023-7G>A Single submitter
- c.3233+12T>G Single submitter
- c.3233+4T>C Single submitter
- c.3234-11G>T Single submitter
- c.3234-15G>A Single submitter
- c.334+11A>G Single submitter
- c.334+15A>G Single submitter
- c.334+7G>A Single submitter
- c.335-13C>G Single submitter
- c.335-14T>A Single submitter
- c.335-18C>A Single submitter
- c.335-19dup Single submitter
- c.3422+17G>A Single submitter
- c.3422+18C>G Single submitter
- c.3423-14T>C Single submitter
- c.3423-17T>C Single submitter
- c.3423-19C>T Single submitter
- c.3633+11_3633+12del Single submitter
- c.3634-11T>C Single submitter
- c.3634-4T>C Single submitter
- c.3634-9T>C Single submitter
- c.3713+18C>T Single submitter
- c.3713+20C>A Single submitter
- c.3713+7T>G Single submitter
- c.3714-19C>A Single submitter
- c.3714-19C>G Single submitter
- c.3714-7A>G Single submitter
- c.501+13A>T Single submitter
- c.501+14C>G Single submitter
- c.501+20A>C Single submitter
- c.501+8T>G Single submitter
- c.501+9C>A Single submitter
- c.502-15C>A Single submitter
- c.502-15C>T Single submitter
- c.502-20T>A Single submitter
- c.502-4T>C Single submitter
- c.533+11C>G Single submitter
- c.533+7G>A Single submitter
- c.534-14del Single submitter
- c.534-15C>T Single submitter
- c.534-20G>A Single submitter
- c.534-5del Single submitter
- c.534-9T>G Single submitter
- c.583+18C>T Single submitter
- c.584-13C>G Single submitter
- c.666+12T>C Single submitter
- c.666+15G>C Single submitter
- c.666+16T>C Single submitter
- c.666+19T>C Single submitter
- c.667-10A>G Single submitter
- c.667-13T>C Single submitter
- c.667-14C>T Single submitter
- c.667-19T>G Single submitter
- c.828+10T>G Single submitter
- c.828+18A>T Single submitter
- c.828+20A>C Single submitter
- c.829-13G>A Single submitter
- c.829-7T>C Single submitter
- c.85+13C>T Single submitter
- c.85+18T>G Single submitter
- c.86-17A>G Single submitter
- c.86-18T>C Single submitter
- c.86-20A>G Single submitter
- c.887+11T>G Single submitter
- c.887+13A>T Single submitter
- c.908+17T>C Single submitter
- c.908+18C>T Single submitter
- c.909-18C>T Single submitter
- c.909-5C>T Single submitter
- c.909-8A>G Single submitter
- c.-18C>A Single submitter
- c.*1282C>T Single submitter retinitis pigmentosa
- c.*13T>C Single submitter
- c.*1595G>A Single submitter retinitis pigmentosa
- c.*1954G>A Single submitter retinitis pigmentosa
- c.*260A>G Single submitter retinitis pigmentosa
- c.*2869C>T Single submitter retinitis pigmentosa
- c.*2885C>A Single submitter retinitis pigmentosa
- c.*3049G>A Single submitter retinitis pigmentosa
- c.*444G>A Single submitter retinitis pigmentosa
- c.*446G>A Single submitter retinitis pigmentosa
- c.*690TA[5] Single submitter
- p.Ala310= Single submitter
- p.Ala420= Single submitter
- p.Ala978= Single submitter
- p.Arg1125= Single submitter
- p.Arg1145= Single submitter
- p.Arg447= Single submitter
- p.Arg744= Single submitter
- p.Arg964= Single submitter
- p.Asn1012= Single submitter
- p.Asn103= Single submitter
- p.Asn229= Single submitter
- p.Asp1068= Single submitter
- p.Asp378= Single submitter
- p.Asp436= Single submitter
- p.Asp552= Single submitter
- p.Asp578= Single submitter
- p.Asp588= Single submitter
- p.Asp692= Single submitter
- p.Asp714= Single submitter
- p.Asp888= Single submitter
- p.Asp889= Single submitter
- p.Asp94Glu Single submitter
- p.Cys1019= Single submitter
- p.Gln1128= Single submitter
- p.Gln1214= Single submitter
- p.Gln39= Single submitter
- p.Gln579= Single submitter
- p.Gln64= Single submitter inherited retinal dystrophy
- p.Glu1094= Single submitter
- p.Glu1212= Single submitter
- p.Glu1239= Single submitter
- p.Glu626= Single submitter
- p.Glu645= Single submitter
- p.Glu745= Single submitter
- p.Glu752= Single submitter
- p.Glu923= Single submitter
- p.Gly1089= Single submitter
- p.Gly130= Single submitter
- p.Gly304= Single submitter
- p.Gly315= Single submitter
- p.Gly446= Single submitter
- p.Gly497= Single submitter
- p.Gly599= Single submitter
- p.Gly846= Single submitter
- p.Gly860= Single submitter
- p.Gly945= Single submitter
- p.His104= Single submitter
- p.His669= Single submitter
- p.His705= Single submitter
- p.Ile35Val Single submitter
- p.Ile383= Single submitter
- p.Ile565= Single submitter
- p.Ile689= Single submitter
- p.Leu1026= Single submitter
- p.Leu1062= Single submitter
- p.Leu1222= Single submitter
- p.Leu193= Single submitter
- p.Leu328= Single submitter
- p.Leu341= Single submitter
- p.Leu367= Single submitter
- p.Leu380= Single submitter
- p.Leu396= Single submitter
- p.Leu472= Single submitter
- p.Leu773= Single submitter
- p.Leu798= Single submitter
- p.Leu810= Single submitter
- p.Leu84= Single submitter
- p.Leu840= Single submitter
- p.Leu842= Single submitter
- p.Leu935= Single submitter
- p.Lys1066= Single submitter
- p.Lys704= Single submitter
- p.Lys861= Single submitter
- p.Phe1182= Single submitter
- p.Phe124= Single submitter
- p.Phe47= Single submitter
- p.Pro1099= Single submitter
- p.Pro1139= Single submitter
- p.Pro203= Single submitter
- p.Pro219= Single submitter
- p.Pro422= Single submitter
- p.Pro441= Single submitter
- p.Pro491= Single submitter
- p.Pro559= Single submitter
- p.Pro641= Single submitter
- p.Pro93= Single submitter
- p.Pro937= Single submitter
- p.Ser1031= Single submitter
- p.Ser1143= Single submitter
- p.Ser1187Gly Single submitter Inborn genetic diseases
- p.Ser163= Single submitter
- p.Ser191= Single submitter
- p.Ser262= Single submitter
- p.Ser263= Single submitter
- p.Ser327= Single submitter
- p.Ser468= Single submitter
- p.Ser507= Single submitter
- p.Ser522= Single submitter
- p.Ser53= Single submitter
- p.Ser535= Single submitter
- p.Ser547= Single submitter
- p.Ser620= Single submitter
- p.Ser730= Single submitter
- p.Ser753= Single submitter
- p.Ser764= Single submitter
- p.Ser921= Single submitter
- p.Thr346= Single submitter
- p.Thr361= Single submitter
- p.Thr71= Single submitter
- p.Thr718= Single submitter
- p.Thr847= Single submitter
- p.Thr870= Single submitter
- p.Thr884= Single submitter
- p.Thr944= Single submitter
- p.Thr989= Single submitter
- p.Tyr107= Single submitter
- p.Tyr254= Single submitter
- p.Tyr865= Single submitter
- p.Val1081= Single submitter
- p.Val1096= Single submitter
- p.Val1114= Single submitter
- p.Val1190= Single submitter
- p.Val145= Single submitter
- p.Val205= Single submitter
- p.Val230= Single submitter
- p.Val277= Single submitter
- p.Val305= Single submitter
- p.Val582= Single submitter
- p.Val783= Single submitter
- p.Val907= Single submitter
- p.Val975= Single submitter
- p.Val979= Single submitter
Uncertain significance 666
Showing the top 300 by review status; the full set is in the sitemap.
- c.1239+6T>A Multiple submitters
- c.2802+4A>G Multiple submitters
- c.3022+3A>G Multiple submitters
- c.583+4T>C Multiple submitters
- c.909-3T>C Multiple submitters
- c.*2658G>T Multiple submitters retinitis pigmentosa
- c.*426G>A Multiple submitters retinitis pigmentosa
- p.Ala1129Gly Multiple submitters inherited retinal dystrophy ⚠
- p.Ala116Ser Multiple submitters ⚠
- p.Ala1230Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala1231Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala207Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala243Glu Multiple submitters ⚠
- p.Ala280Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala419Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala444Thr Multiple submitters ⚠
- p.Ala686Thr Multiple submitters vitelliform macular dystrophy 5 ⚠
- p.Ala691Thr Multiple submitters inherited retinal dystrophy ⚠
- p.Ala698Val Multiple submitters retinitis pigmentosa ⚠
- p.Ala741Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala741Tyr Multiple submitters
- p.Ala978Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala978Val Multiple submitters retinitis pigmentosa ⚠
- p.Ala997Thr Multiple submitters ⚠
- p.Arg1048Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1078Ser Multiple submitters ⚠
- p.Arg1080Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1080Trp Multiple submitters
- p.Arg1088Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg111Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg291Cys Multiple submitters ⚠
- p.Arg291His Multiple submitters ⚠
- p.Arg355Thr Multiple submitters ⚠
- p.Arg80Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg80Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg844Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn225Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn518Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn953Ser Multiple submitters ⚠
- p.Asn969Ser Multiple submitters ⚠
- p.Asp1004Val Multiple submitters ⚠
- p.Asp1148Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp324His Multiple submitters Inborn genetic diseases ⚠
- p.Asp395Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp414Tyr Multiple submitters ⚠
- p.Asp610Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp737Asn Multiple submitters ⚠
- p.Asp829Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys1067Ser Multiple submitters ⚠
- p.Gln1237del Multiple submitters
- p.Gln64Leu Multiple submitters ⚠
- p.Gln940Arg Multiple submitters ⚠
- p.Glu1228Gln Multiple submitters ⚠
- p.Glu1235Gln Multiple submitters retinitis pigmentosa ⚠
- p.Glu256Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu256Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu340Lys Multiple submitters ⚠
- p.Glu37Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu448Lys Multiple submitters ⚠
- p.Glu622Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu752Gln Multiple submitters ⚠
- p.Glu762Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu791Gly Multiple submitters retinitis pigmentosa ⚠
- p.Glu99Lys Multiple submitters ⚠
- p.Gly1074Arg Multiple submitters ⚠
- p.Gly130Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly210Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly22Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly304Asp Multiple submitters
- p.Gly315Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly471Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly684Arg Multiple submitters retinitis pigmentosa 56 ⚠
- p.Gly860Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly88Arg Multiple submitters ⚠
- p.Gly88Val Multiple submitters inherited retinal dystrophy ⚠
- p.His266Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His391Gln Multiple submitters retinitis pigmentosa ⚠
- p.His705Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile1102Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile1119Val Multiple submitters retinitis pigmentosa ⚠
- p.Ile412Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile545Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile706Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile776Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile77Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile845Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile951Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu1003Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu1112Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu1194Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu19Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu396Pro Multiple submitters retinitis pigmentosa ⚠
- p.Leu569Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu649Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu818Trp Multiple submitters Inborn genetic diseases ⚠
- p.Leu842Met Multiple submitters vitelliform macular dystrophy 5 ⚠
- p.Lys1015Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys236Arg Multiple submitters ⚠
- p.Lys966Arg Multiple submitters retinitis pigmentosa 56 ⚠
- p.Met747Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met877Ile Multiple submitters ⚠
- p.Met877Leu Multiple submitters ⚠
- p.Phe1060Cys Multiple submitters retinitis pigmentosa 56 ⚠
- p.Phe245Val Multiple submitters ⚠
- p.Phe4Ile Multiple submitters ⚠
- p.Pro1040Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro1058Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro1147Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro1161Leu Multiple submitters inherited retinal dystrophy ⚠
- p.Pro1161Thr Multiple submitters ⚠
- p.Pro237Leu Multiple submitters ⚠
- p.Pro409Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro409Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro422Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro434del Multiple submitters
- p.Pro434Ser Multiple submitters retinitis pigmentosa 56 ⚠
- p.Pro442Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro491Leu Multiple submitters ⚠
- p.Pro631Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro681Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro721Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro768Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro93Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro972Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser1044Thr Multiple submitters ⚠
- p.Ser1097Pro Multiple submitters
- p.Ser11Tyr Multiple submitters ⚠
- p.Ser199Gly Multiple submitters ⚠
- p.Ser246Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser319Arg Multiple submitters inherited retinal dystrophy ⚠
- p.Ser438Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser439Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser451Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser453Arg Multiple submitters ⚠
- p.Ser468Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser535Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser574Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser605Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ser716Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser726Cys Multiple submitters ⚠
- p.Ser839Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser879Thr Multiple submitters vitelliform macular dystrophy 5 ⚠
- p.Ser921Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser941Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser963Gly Multiple submitters vitelliform macular dystrophy 5 ⚠
- p.Thr196Ala Multiple submitters retinitis pigmentosa 56 ⚠
- p.Thr322Asn Multiple submitters ⚠
- p.Thr350Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr490Ile Multiple submitters ⚠
- p.Thr537Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr537Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr751Ala Multiple submitters ⚠
- p.Thr884Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr893Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr908Ile Multiple submitters ⚠
- p.Thr944Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr287Cys Multiple submitters
- p.Tyr756Cys Multiple submitters inherited retinal dystrophy ⚠
- p.Tyr924Cys Multiple submitters retinitis pigmentosa ⚠
- p.Val105Met Multiple submitters Inborn genetic diseases ⚠
- p.Val1100Met Multiple submitters Inborn genetic diseases ⚠
- p.Val1109Met Multiple submitters Inborn genetic diseases ⚠
- p.Val1162Met Multiple submitters inherited retinal dystrophy ⚠
- p.Val117Leu Multiple submitters Inborn genetic diseases
- p.Val493Met Multiple submitters Inborn genetic diseases ⚠
- p.Val831Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val835Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val872Ile Multiple submitters ⚠
- p.Val900Met Multiple submitters Inborn genetic diseases ⚠
- p.Val961Met Multiple submitters ⚠
- p.Val975Ile Multiple submitters Inborn genetic diseases ⚠
- c.1153+6T>G Single submitter
- c.1239+3A>G Single submitter
- c.1239+6T>C Single submitter
- c.1240-6C>G Single submitter
- c.1544-12C>A Single submitter
- c.1544-3T>C Single submitter
- c.2802+3A>G Single submitter
- c.2802+8T>C Single submitter retinitis pigmentosa
- c.3023-13T>G Single submitter
- c.3023-15T>A Single submitter inherited retinal dystrophy
- c.3023-9A>G Single submitter
- c.3233+3A>G Single submitter
- c.3233+5G>A Single submitter
- c.3233+6T>A Single submitter
- c.3423-19_3423-18inv Single submitter
- c.3633+6A>G Single submitter
- c.501+3A>G Single submitter
- c.501+3A>T Single submitter
- c.666+4A>T Single submitter
- c.86-8C>G Single submitter vitelliform macular dystrophy 5
- c.887+3A>G Single submitter retinitis pigmentosa 56
- c.909-11T>C Single submitter
- c.-131G>A Single submitter retinitis pigmentosa
- c.-44A>G Single submitter retinitis pigmentosa
- c.*1162T>C Single submitter retinitis pigmentosa
- c.*134C>T Single submitter retinitis pigmentosa
- c.*1447C>T Single submitter retinitis pigmentosa
- c.*1542A>T Single submitter retinitis pigmentosa
- c.*1551G>A Single submitter retinitis pigmentosa
- c.*1554C>T Single submitter retinitis pigmentosa
- c.*1578C>T Single submitter retinitis pigmentosa
- c.*1598C>T Single submitter retinitis pigmentosa
- c.*1599G>A Single submitter retinitis pigmentosa
- c.*1600C>T Single submitter retinitis pigmentosa
- c.*1719A>G Single submitter retinitis pigmentosa
- c.*1735C>T Single submitter retinitis pigmentosa
- c.*180T>G Single submitter retinitis pigmentosa
- c.*2042G>C Single submitter retinitis pigmentosa
- c.*212G>T Single submitter retinitis pigmentosa
- c.*2174C>T Single submitter retinitis pigmentosa
- c.*2242G>A Single submitter retinitis pigmentosa
- c.*2329T>C Single submitter retinitis pigmentosa
- c.*2332T>C Single submitter retinitis pigmentosa
- c.*2385T>A Single submitter retinitis pigmentosa
- c.*2435T>C Single submitter retinitis pigmentosa
- c.*2592T>C Single submitter retinitis pigmentosa
- c.*2612T>A Single submitter retinitis pigmentosa
- c.*2622A>G Single submitter retinitis pigmentosa
- c.*2653T>C Single submitter retinitis pigmentosa
- c.*2682T>C Single submitter retinitis pigmentosa
- c.*2781C>T Single submitter retinitis pigmentosa
- c.*2790G>T Single submitter retinitis pigmentosa
- c.*2838G>C Single submitter retinitis pigmentosa
- c.*2909C>T Single submitter retinitis pigmentosa
- c.*2966C>T Single submitter retinitis pigmentosa
- c.*3007G>A Single submitter retinitis pigmentosa
- c.*300T>G Single submitter retinitis pigmentosa
- c.*3103G>T Single submitter retinitis pigmentosa
- c.*3152T>C Single submitter retinitis pigmentosa
- c.*3235C>A Single submitter retinitis pigmentosa
- c.*3287C>G Single submitter retinitis pigmentosa
- c.*345C>T Single submitter retinitis pigmentosa
- c.*3467G>A Single submitter retinitis pigmentosa
- c.*3514C>T Single submitter retinitis pigmentosa
- c.*3599A>G Single submitter retinitis pigmentosa
- c.*3619C>A Single submitter retinitis pigmentosa
- c.*3619C>T Single submitter retinitis pigmentosa
- c.*3624T>G Single submitter retinitis pigmentosa
- c.*3658C>T Single submitter retinitis pigmentosa
- c.*368G>A Single submitter retinitis pigmentosa
- c.*371G>A Single submitter retinitis pigmentosa
- c.*372A>C Single submitter retinitis pigmentosa
- c.*3740C>T Single submitter retinitis pigmentosa
- c.*3773C>T Single submitter retinitis pigmentosa
- c.*3774G>A Single submitter retinitis pigmentosa
- c.*3824C>T Single submitter retinitis pigmentosa
- c.*3825G>A Single submitter retinitis pigmentosa
- c.*388A>G Single submitter retinitis pigmentosa
- c.*3949C>T Single submitter retinitis pigmentosa
- c.*3974A>G Single submitter retinitis pigmentosa
- c.*4108G>C Single submitter retinitis pigmentosa
- c.*4143A>G Single submitter retinitis pigmentosa
- c.*4374A>G Single submitter retinitis pigmentosa
- c.*45G>A Single submitter
- c.*471A>T Single submitter retinitis pigmentosa
- c.*563G>T Single submitter retinitis pigmentosa
- c.*565A>T Single submitter retinitis pigmentosa
- c.*569G>C Single submitter retinitis pigmentosa
- c.*810C>T Single submitter retinitis pigmentosa
- c.*868C>T Single submitter retinitis pigmentosa
- c.*874T>C Single submitter retinitis pigmentosa
- c.*898T>G Single submitter retinitis pigmentosa
- c.*944A>G Single submitter retinitis pigmentosa
- p.Ala1011Gly Single submitter
- p.Ala1018Val Single submitter ⚠
- p.Ala1075Thr Single submitter
- p.Ala1129Val Single submitter ⚠
- p.Ala172Thr Single submitter ⚠
- p.Ala207Ser Single submitter ⚠
- p.Ala234Asp Single submitter ⚠
- p.Ala310Thr Single submitter ⚠
- p.Ala44Gly Single submitter ⚠
- p.Ala59Gly Single submitter inherited retinal dystrophy ⚠
- p.Ala739Thr Single submitter Inborn genetic diseases ⚠
- p.Ala799Val Single submitter ⚠
- p.Ala881Pro Single submitter Inborn genetic diseases ⚠
- p.Ala978Met Single submitter
- p.Ala98Ser Single submitter ⚠
- p.Arg1037Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1078= Single submitter
- p.Arg1078Lys Single submitter ⚠
- p.Arg1080Pro Single submitter ⚠
- p.Arg111Pro Single submitter inherited retinal dystrophy ⚠
- p.Arg1125Ser Single submitter Inborn genetic diseases ⚠
- p.Arg127Gln Single submitter ⚠
- p.Arg162Ser Single submitter ⚠
- p.Arg218Ser Single submitter ⚠
- p.Arg291Gly Single submitter inherited retinal dystrophy ⚠
- p.Arg386Lys Single submitter ⚠
- p.Arg390Cys Single submitter ⚠
- p.Arg390Gly Single submitter ⚠
- p.Arg390Ser Single submitter ⚠
- p.Arg505Thr Single submitter Inborn genetic diseases ⚠
- p.Arg68Cys Single submitter ⚠
- p.Arg68His Single submitter ⚠
- p.Arg69Ile Single submitter ⚠
- p.Arg795Lys Single submitter ⚠
- p.Arg844Leu Single submitter Inborn genetic diseases ⚠
- p.Arg906Gln Single submitter ⚠