RD3 — 261 ClinVar variants
All ClinVar germline RD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →
9 Pathogenic · 2 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 12 Conflicting · 12 Benign · 3 Benign/Likely benign · 48 Likely benign · 173 Uncertain significance
Full RD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 89
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RD3 p.Asp165Ala
Conflicting
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Pro109Ser
Conflicting
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Thr34Met
Conflicting
Single submitter
Leber congenital amaurosis 12
Predictors lean, ClinVar uncertain 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RD3 p.Ala135Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RD3 p.Arg15Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RD3 p.Arg182Gln
Uncertain significance
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Arg38Gln
Uncertain significance
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Arg45Gln
Uncertain significance
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Arg47His
Uncertain significance
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Asp165Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RD3 p.Asp176Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RD3 p.Asp195Tyr
Uncertain significance
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Glu11Lys
Uncertain significance
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Ile169Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RD3 p.Ile76Thr
Uncertain significance
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Leu144Gln
Uncertain significance
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Ser149Ile
Uncertain significance
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Val86Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RD3 p.Ala12Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RD3 p.Ala40Val
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Ala50Glu
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Ala50Thr
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Ala50Val
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Arg158Leu
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Arg175Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
RD3 p.Arg182Leu
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Arg19Trp
Uncertain significance
Single submitter
Leber congenital amaurosis 12
- RD3 p.Arg45Trp Uncertain significance Single submitter
-
RD3 p.Arg68Gln
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Arg78Pro
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Arg8Gln
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Arg99Lys
Uncertain significance
Single submitter
Leber congenital amaurosis 12
- RD3 p.Asp165Gly Uncertain significance Single submitter
-
RD3 p.Asp172Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
RD3 p.Gln116His
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Gln116Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RD3 p.Gln123Leu
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Gln80Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RD3 p.Glu171Gln
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Glu171Lys
Uncertain significance
Single submitter
Leber congenital amaurosis 12
- RD3 p.Glu32Ala Uncertain significance Single submitter
-
RD3 p.Glu32Gln
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Gly35Arg
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Ile4Thr
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Ile97Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RD3 p.Leu104Pro Uncertain significance Single submitter
-
RD3 p.Leu122Arg
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Lys193Glu
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Met129Lys
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Met37Ile
Uncertain significance
Single submitter
Leber congenital amaurosis 12
- RD3 p.Phe100Ser Uncertain significance Single submitter
-
RD3 p.Pro187Ala
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Pro21Ala
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Pro21Ser
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Ser164Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RD3 p.Ser61Asn
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Ser69Phe
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Thr139Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RD3 p.Thr139Met Uncertain significance Single submitter
-
RD3 p.Thr18Ile
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Thr28Lys
Uncertain significance
Single submitter
Leber congenital amaurosis 12
- RD3 p.Thr66Ile Uncertain significance Single submitter
-
RD3 p.Val111Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
RD3 p.Val54Phe
Uncertain significance
Single submitter
Leber congenital amaurosis 12
Predictors split 25
The independent predictors disagree with each other — read with care.
-
RD3 p.Arg15Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RD3 p.Arg68Trp
Uncertain significance
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Arg78Gln
Uncertain significance
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Arg8Trp
Uncertain significance
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Asp83Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RD3 p.Gly57Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RD3 p.Leu7His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RD3 p.Lys87Glu
Uncertain significance
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Ser170Phe
Uncertain significance
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Thr28Met
Likely benign
Multiple submitters
Leber congenital amaurosis 12
-
RD3 p.Ala22Asp
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Arg119Cys
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Arg47Cys
Conflicting
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Arg78Trp
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Gln141His
Uncertain significance
Single submitter
Inborn genetic diseases
-
RD3 p.Gly57Cys
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Leu138Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RD3 p.Lys53Asn Uncertain significance Single submitter
-
RD3 p.Pro187His
Uncertain significance
Single submitter
Leber congenital amaurosis 12
- RD3 p.Pro67Thr Uncertain significance Single submitter
-
RD3 p.Pro95Leu
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Pro95Ser
Uncertain significance
Single submitter
Leber congenital amaurosis 12
-
RD3 p.Thr139Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RD3 p.Thr139Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
RD3 p.Val121Met
Uncertain significance
Single submitter
Inborn genetic diseases
All RD3 variants
Pathogenic 9
- p.Arg38Ter Multiple submitters RD3-related disorder
- p.Tyr60Ter Multiple submitters Leber congenital amaurosis
- c.296+641_*606del Single submitter Leber congenital amaurosis 12
- p.Gln80Ter Single submitter Leber congenital amaurosis 12
- p.Glu27fs Single submitter Leber congenital amaurosis 12
- p.Pro13fs Single submitter Leber congenital amaurosis 12
- c.296+1G>A No assertion criteria Leber congenital amaurosis 12
- p.Glu46fs No assertion criteria Leber congenital amaurosis 12
- p.Glu46Ter No assertion criteria Leber congenital amaurosis 12
Pathogenic/Likely pathogenic 2
- c.296+1G>T Multiple submitters RD3-related disorder
- p.Ser5fs Multiple submitters RD3-related disorder
Likely pathogenic 2
- p.Gln116fs Single submitter RD3-related disorder
- p.His89fs Single submitter Leber congenital amaurosis 12
Conflicting classifications of pathogenicity 12
- p.Ala50= Single submitter Leber congenital amaurosis 12
- p.Arg156= Single submitter Leber congenital amaurosis 12
- p.Arg45= Single submitter Leber congenital amaurosis 12
- p.Arg47Cys Single submitter Leber congenital amaurosis 12 ⚠
- p.Asp165Ala Single submitter Leber congenital amaurosis 12 ⚠
- p.Glu132Ter Single submitter Leber congenital amaurosis 12
- p.Ile166= Single submitter Leber congenital amaurosis 12
- p.Pro109Ser Single submitter Leber congenital amaurosis 12 ⚠
- p.Thr34= Single submitter Leber congenital amaurosis 12
- p.Thr34Met Single submitter Leber congenital amaurosis 12 ⚠
- p.Thr56= Single submitter Leber congenital amaurosis 12
- p.Val173= Single submitter Leber congenital amaurosis 12
Benign 12
- c.-1123T>C Multiple submitters Leber congenital amaurosis 12
- c.*1331G>A Multiple submitters Leber congenital amaurosis 12
- c.*1343G>C Multiple submitters Leber congenital amaurosis 12
- c.*1649T>C Multiple submitters Leber congenital amaurosis 12
- c.*193G>C Multiple submitters Leber congenital amaurosis 12
- c.*368A>T Multiple submitters Leber congenital amaurosis 12
- c.*471C>T Multiple submitters Leber congenital amaurosis 12
- p.Arg167Lys Multiple submitters Leber congenital amaurosis 12
- p.Glu23Asp Multiple submitters Leber congenital amaurosis 12
- p.Leu79= Multiple submitters Leber congenital amaurosis 12
- p.Thr28= Multiple submitters Leber congenital amaurosis 12
- c.296+18G>A Single submitter Leber congenital amaurosis 12
Benign/Likely benign 3
- c.296+18del Multiple submitters Leber congenital amaurosis 12
- p.Asp195Val Multiple submitters Leber congenital amaurosis 12
- p.Trp6Arg Multiple submitters Leber congenital amaurosis 12
Likely benign 48
- c.-516T>G Multiple submitters Leber congenital amaurosis 12
- c.*1281G>A Multiple submitters Leber congenital amaurosis 12
- c.*2503G>T Multiple submitters Leber congenital amaurosis 12
- c.*834G>A Multiple submitters Leber congenital amaurosis 12
- p.Arg145= Multiple submitters Leber congenital amaurosis 12
- p.Arg19= Multiple submitters Leber congenital amaurosis 12
- p.Glu106= Multiple submitters Leber congenital amaurosis 12
- p.Gly57= Multiple submitters Leber congenital amaurosis 12
- p.Leu150= Multiple submitters Leber congenital amaurosis 12
- p.Leu29= Multiple submitters Leber congenital amaurosis 12
- p.Thr28Met Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Val84= Multiple submitters Leber congenital amaurosis 12
- c.296+15G>T Single submitter
- c.296+8C>T Single submitter Leber congenital amaurosis 12
- c.296+9dup Single submitter Leber congenital amaurosis 12
- c.297-16C>T Single submitter Leber congenital amaurosis 12
- c.297-17C>T Single submitter
- c.-294A>C Single submitter Leber congenital amaurosis 12
- c.*1039T>A Single submitter Leber congenital amaurosis 12
- c.*834G>T Single submitter Leber congenital amaurosis 12
- p.Ala194= Single submitter Leber congenital amaurosis 12
- p.Ala22= Single submitter Leber congenital amaurosis 12
- p.Arg190= Single submitter Leber congenital amaurosis 12
- p.Arg47= Single submitter Leber congenital amaurosis 12
- p.Asn10= Single submitter Leber congenital amaurosis 12
- p.Asp172= Single submitter Leber congenital amaurosis 12
- p.Asp195= Single submitter Leber congenital amaurosis 12
- p.Asp72= Single submitter Leber congenital amaurosis 12
- p.Cys85= Single submitter Leber congenital amaurosis 12
- p.Cys93= Single submitter Leber congenital amaurosis 12
- p.Gln123= Single submitter Leber congenital amaurosis 12
- p.Glu127= Single submitter Leber congenital amaurosis 12
- p.Glu188= Single submitter Leber congenital amaurosis 12
- p.Glu77= Single submitter Leber congenital amaurosis 12
- p.Ile88= Single submitter Leber congenital amaurosis 12
- p.Leu181= Single submitter Leber congenital amaurosis 12
- p.Leu33= Single submitter Leber congenital amaurosis 12
- p.Pro109= Single submitter Leber congenital amaurosis 12
- p.Pro146= Single submitter Leber congenital amaurosis 12
- p.Pro161= Single submitter Leber congenital amaurosis 12
- p.Pro179= Single submitter Leber congenital amaurosis 12
- p.Pro180= Single submitter Leber congenital amaurosis 12
- p.Ser164= Single submitter Leber congenital amaurosis 12
- p.Ser69= Single submitter Leber congenital amaurosis 12
- p.Thr139= Single submitter Leber congenital amaurosis 12
- p.Thr66= Single submitter Leber congenital amaurosis 12
- p.Val111= Single submitter Leber congenital amaurosis 12
- p.Val125= Single submitter Leber congenital amaurosis 12
Uncertain significance 173
- c.-572G>A Multiple submitters Leber congenital amaurosis 12
- c.*1277G>A Multiple submitters Leber congenital amaurosis 12
- p.Ala135Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg15Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg15Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg182Gln Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Arg38Gln Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Arg45Gln Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Arg47His Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Arg68Trp Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Arg78Gln Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Arg8Trp Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Asp165Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp176Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp195Tyr Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Asp83Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu11Lys Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Gly57Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly57Val Multiple submitters Leber congenital amaurosis 12
- p.Ile169Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile76Thr Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Leu144Gln Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Leu7His Multiple submitters Inborn genetic diseases ⚠
- p.Lys87Glu Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Met30Lys Multiple submitters Leber congenital amaurosis 12
- p.Ser149Ile Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Ser170Phe Multiple submitters Leber congenital amaurosis 12 ⚠
- p.Ter196Ser Multiple submitters Leber congenital amaurosis 12
- p.Val86Ile Multiple submitters Inborn genetic diseases ⚠
- c.297-3C>G Single submitter Leber congenital amaurosis 12
- c.-1034G>A Single submitter Leber congenital amaurosis 12
- c.-1052C>A Single submitter Leber congenital amaurosis 12
- c.-1106G>A Single submitter Leber congenital amaurosis 12
- c.-1118A>T Single submitter Leber congenital amaurosis 12
- c.-1120G>A Single submitter Leber congenital amaurosis 12
- c.-1160T>C Single submitter Leber congenital amaurosis 12
- c.-12+10A>C Single submitter Leber congenital amaurosis 12
- c.-138C>A Single submitter Leber congenital amaurosis 12
- c.-138C>G Single submitter Leber congenital amaurosis 12
- c.-139C>T Single submitter Leber congenital amaurosis 12
- c.-188G>A Single submitter Leber congenital amaurosis 12
- c.-189C>T Single submitter Leber congenital amaurosis 12
- c.-25G>A Single submitter Leber congenital amaurosis 12
- c.-291T>C Single submitter Leber congenital amaurosis 12
- c.-296A>C Single submitter Leber congenital amaurosis 12
- c.-302A>C Single submitter Leber congenital amaurosis 12
- c.-304A>C Single submitter Leber congenital amaurosis 12
- c.-329C>T Single submitter Leber congenital amaurosis 12
- c.-332A>G Single submitter Leber congenital amaurosis 12
- c.-336AC[16] Single submitter
- c.-336AC[19] Single submitter
- c.-336AC[23] Single submitter
- c.-340G>A Single submitter Leber congenital amaurosis 12
- c.-341C>T Single submitter Leber congenital amaurosis 12
- c.-355G>A Single submitter Leber congenital amaurosis 12
- c.-356C>T Single submitter Leber congenital amaurosis 12
- c.-377G>A Single submitter Leber congenital amaurosis 12
- c.-495T>G Single submitter Leber congenital amaurosis 12
- c.-504G>A Single submitter Leber congenital amaurosis 12
- c.-505C>T Single submitter Leber congenital amaurosis 12
- c.-539G>T Single submitter Leber congenital amaurosis 12
- c.-556G>A Single submitter Leber congenital amaurosis 12
- c.-640G>A Single submitter Leber congenital amaurosis 12
- c.-712G>C Single submitter Leber congenital amaurosis 12
- c.-714G>C Single submitter Leber congenital amaurosis 12
- c.-771G>T Single submitter Leber congenital amaurosis 12
- c.-884C>A Single submitter Leber congenital amaurosis 12
- c.-925G>A Single submitter Leber congenital amaurosis 12
- c.*1005C>G Single submitter Leber congenital amaurosis 12
- c.*1108C>T Single submitter Leber congenital amaurosis 12
- c.*1287T>C Single submitter Leber congenital amaurosis 12
- c.*1310G>A Single submitter Leber congenital amaurosis 12
- c.*1323G>A Single submitter Leber congenital amaurosis 12
- c.*1342T>G Single submitter Leber congenital amaurosis 12
- c.*1553C>T Single submitter Leber congenital amaurosis 12
- c.*1555T>C Single submitter Leber congenital amaurosis 12
- c.*1582del Single submitter
- c.*1634G>A Single submitter Leber congenital amaurosis 12
- c.*1652C>T Single submitter Leber congenital amaurosis 12
- c.*1672C>T Single submitter Leber congenital amaurosis 12
- c.*1712G>A Single submitter Leber congenital amaurosis 12
- c.*1983C>T Single submitter Leber congenital amaurosis 12
- c.*2007G>A Single submitter Leber congenital amaurosis 12
- c.*2081C>T Single submitter Leber congenital amaurosis 12
- c.*2098G>A Single submitter Leber congenital amaurosis 12
- c.*2138T>C Single submitter Leber congenital amaurosis 12
- c.*213C>T Single submitter Leber congenital amaurosis 12
- c.*2247A>T Single submitter Leber congenital amaurosis 12
- c.*2311C>T Single submitter Leber congenital amaurosis 12
- c.*2317G>A Single submitter Leber congenital amaurosis 12
- c.*2330C>T Single submitter Leber congenital amaurosis 12
- c.*2402A>G Single submitter Leber congenital amaurosis 12
- c.*2451A>C Single submitter Leber congenital amaurosis 12
- c.*2464C>T Single submitter Leber congenital amaurosis 12
- c.*2481A>T Single submitter Leber congenital amaurosis 12
- c.*263T>G Single submitter Leber congenital amaurosis 12
- c.*330G>C Single submitter Leber congenital amaurosis 12
- c.*44G>A Single submitter Leber congenital amaurosis 12
- c.*527G>C Single submitter Leber congenital amaurosis 12
- c.*590T>C Single submitter Leber congenital amaurosis 12
- c.*591T>A Single submitter Leber congenital amaurosis 12
- c.*592C>A Single submitter Leber congenital amaurosis 12
- c.*738T>C Single submitter Leber congenital amaurosis 12
- c.*814C>A Single submitter Leber congenital amaurosis 12
- c.*882C>T Single submitter Leber congenital amaurosis 12
- p.Ala12Val Single submitter Inborn genetic diseases ⚠
- p.Ala22Asp Single submitter Leber congenital amaurosis 12 ⚠
- p.Ala40Val Single submitter Leber congenital amaurosis 12 ⚠
- p.Ala50Glu Single submitter Leber congenital amaurosis 12 ⚠
- p.Ala50Thr Single submitter Leber congenital amaurosis 12 ⚠
- p.Ala50Val Single submitter Leber congenital amaurosis 12 ⚠
- p.Arg119Cys Single submitter Leber congenital amaurosis 12 ⚠
- p.Arg156Phe Single submitter Leber congenital amaurosis 12
- p.Arg158Leu Single submitter Leber congenital amaurosis 12 ⚠
- p.Arg175Trp Single submitter Inborn genetic diseases ⚠
- p.Arg182Leu Single submitter Leber congenital amaurosis 12 ⚠
- p.Arg19Trp Single submitter Leber congenital amaurosis 12 ⚠
- p.Arg45Trp Single submitter ⚠
- p.Arg68Gln Single submitter Leber congenital amaurosis 12 ⚠
- p.Arg78Pro Single submitter Leber congenital amaurosis 12 ⚠
- p.Arg78Trp Single submitter Leber congenital amaurosis 12 ⚠
- p.Arg8Gln Single submitter Leber congenital amaurosis 12 ⚠
- p.Arg99= Single submitter Leber congenital amaurosis 12
- p.Arg99Lys Single submitter Leber congenital amaurosis 12 ⚠
- p.Asp165Gly Single submitter ⚠
- p.Asp172Asn Single submitter Inborn genetic diseases ⚠
- p.Gln116His Single submitter Leber congenital amaurosis 12 ⚠
- p.Gln116Lys Single submitter Inborn genetic diseases ⚠
- p.Gln123Leu Single submitter Leber congenital amaurosis 12 ⚠
- p.Gln141His Single submitter Inborn genetic diseases ⚠
- p.Gln80Leu Single submitter Inborn genetic diseases ⚠
- p.Glu171Gln Single submitter Leber congenital amaurosis 12 ⚠
- p.Glu171Lys Single submitter Leber congenital amaurosis 12 ⚠
- p.Glu32Ala Single submitter ⚠
- p.Glu32Gln Single submitter Leber congenital amaurosis 12 ⚠
- p.Gly35Arg Single submitter Leber congenital amaurosis 12 ⚠
- p.Gly57Asp Single submitter Inborn genetic diseases
- p.Gly57Cys Single submitter Leber congenital amaurosis 12 ⚠
- p.Ile4Thr Single submitter Leber congenital amaurosis 12 ⚠
- p.Ile97Leu Single submitter Inborn genetic diseases ⚠
- p.Leu104Pro Single submitter ⚠
- p.Leu122Arg Single submitter Leber congenital amaurosis 12 ⚠
- p.Leu138Arg Single submitter Inborn genetic diseases ⚠
- p.Lys193Glu Single submitter Leber congenital amaurosis 12 ⚠
- p.Lys53Asn Single submitter ⚠
- p.Met129Lys Single submitter Leber congenital amaurosis 12 ⚠
- p.Met1Ile Single submitter inherited retinal dystrophy
- p.Met1Thr Single submitter Leber congenital amaurosis 12
- p.Met1Val Single submitter Leber congenital amaurosis 12
- p.Met37Ile Single submitter Leber congenital amaurosis 12 ⚠
- p.Phe100Ser Single submitter ⚠
- p.Pro161Ser Single submitter Leber congenital amaurosis 12
- p.Pro187Ala Single submitter Leber congenital amaurosis 12 ⚠
- p.Pro187His Single submitter Leber congenital amaurosis 12 ⚠
- p.Pro21Ala Single submitter Leber congenital amaurosis 12 ⚠
- p.Pro21Ser Single submitter Leber congenital amaurosis 12 ⚠
- p.Pro67Thr Single submitter ⚠
- p.Pro95Leu Single submitter Leber congenital amaurosis 12 ⚠
- p.Pro95Ser Single submitter Leber congenital amaurosis 12 ⚠
- p.Ser120= Single submitter Leber congenital amaurosis 12
- p.Ser164Gly Single submitter Inborn genetic diseases ⚠
- p.Ser61Asn Single submitter Leber congenital amaurosis 12 ⚠
- p.Ser69Phe Single submitter Leber congenital amaurosis 12 ⚠
- p.Thr139Arg Single submitter Inborn genetic diseases ⚠
- p.Thr139Lys Single submitter Inborn genetic diseases ⚠
- p.Thr139Met Single submitter ⚠
- p.Thr139Pro Single submitter Inborn genetic diseases ⚠
- p.Thr18Ile Single submitter Leber congenital amaurosis 12 ⚠
- p.Thr28Lys Single submitter Leber congenital amaurosis 12 ⚠
- p.Thr66Ile Single submitter ⚠
- p.Val111Met Single submitter Inborn genetic diseases ⚠
- p.Val121Met Single submitter Inborn genetic diseases ⚠
- p.Val54Phe Single submitter Leber congenital amaurosis 12 ⚠