RAX2 — 311 ClinVar variants
All ClinVar germline RAX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 136 flagged for review →
7 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 19 Conflicting · 19 Benign · 11 Benign/Likely benign · 85 Likely benign · 166 Uncertain significance
Full RAX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 136
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.
-
RAX2 p.Gly137Arg
Pathogenic
No assertion criteria
cone-rod dystrophy 11
Predictors agree, ClinVar conflicts 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- RAX2 p.Ala144Ser Conflicting Single submitter
- RAX2 p.Ala144Val Conflicting Single submitter
- RAX2 p.Arg167Gln Conflicting Single submitter
-
RAX2 p.Arg31Cys
Conflicting
Single submitter
retinitis pigmentosa 95
-
RAX2 p.Arg78His
Conflicting
Single submitter
RAX2-related disorder
-
RAX2 p.Arg79Gln
Conflicting
Single submitter
RAX2-related disorder
-
RAX2 p.Glu7Lys
Conflicting
Single submitter
cone-rod dystrophy 11
-
RAX2 p.Gly17Arg
Conflicting
Single submitter
cone-rod dystrophy 11
-
RAX2 p.His50Tyr
Conflicting
Single submitter
retinitis pigmentosa 95
- RAX2 p.Pro107Ser Conflicting Single submitter
- RAX2 p.Pro98Leu Conflicting Single submitter
-
RAX2 p.Val129Met
Conflicting
Single submitter
cone-rod dystrophy 11
Predictors lean, ClinVar uncertain 118
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RAX2 p.Ala105Val Uncertain significance Multiple submitters
- RAX2 p.Ala109Thr Uncertain significance Multiple submitters
- RAX2 p.Ala160Val Uncertain significance Multiple submitters
- RAX2 p.Ala164Val Uncertain significance Multiple submitters
- RAX2 p.Ala180Pro Uncertain significance Multiple submitters
-
RAX2 p.Ala45Val
Uncertain significance
Multiple submitters
cone-rod dystrophy 11
- RAX2 p.Ala61Thr Uncertain significance Multiple submitters
- RAX2 p.Arg110Cys Uncertain significance Multiple submitters
- RAX2 p.Arg134Cys Uncertain significance Multiple submitters
- RAX2 p.Arg167Trp Uncertain significance Multiple submitters
-
RAX2 p.Arg179Gly
Uncertain significance
Multiple submitters
age related macular degeneration 6
-
RAX2 p.Arg28Gln
Uncertain significance
Multiple submitters
age related macular degeneration 6
-
RAX2 p.Arg31His
Uncertain significance
Multiple submitters
cone-rod dystrophy 11
- RAX2 p.Arg44Trp Uncertain significance Multiple submitters
-
RAX2 p.Arg57Cys
Uncertain significance
Multiple submitters
retinitis pigmentosa 95
- RAX2 p.Arg57Ser Uncertain significance Multiple submitters
- RAX2 p.Arg70His Uncertain significance Multiple submitters
- RAX2 p.Arg79Trp Uncertain significance Multiple submitters
-
RAX2 p.Arg83Cys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- RAX2 p.Arg84Cys Uncertain significance Multiple submitters
- RAX2 p.Arg84His Uncertain significance Multiple submitters
-
RAX2 p.Arg87Gln
Uncertain significance
Multiple submitters
age related macular degeneration 6
- RAX2 p.Arg87Trp Uncertain significance Multiple submitters
- RAX2 p.Asp178Gly Uncertain significance Multiple submitters
- RAX2 p.Glu102Lys Uncertain significance Multiple submitters
- RAX2 p.Glu12Lys Uncertain significance Multiple submitters
- RAX2 p.Glu47Lys Uncertain significance Multiple submitters
- RAX2 p.Glu59Lys Uncertain significance Multiple submitters
- RAX2 p.Glu89Gln Uncertain significance Multiple submitters
- RAX2 p.Gly125Arg Uncertain significance Multiple submitters
- RAX2 p.Gly141Glu Uncertain significance Multiple submitters
- RAX2 p.Gly8Arg Uncertain significance Multiple submitters
-
RAX2 p.His149Arg
Uncertain significance
Multiple submitters
cone-rod dystrophy 11
- RAX2 p.Leu106Met Uncertain significance Multiple submitters
- RAX2 p.Leu169Pro Uncertain significance Multiple submitters
-
RAX2 p.Leu39Pro
Uncertain significance
Multiple submitters
cone-rod dystrophy 11
- RAX2 p.Lys26Glu Uncertain significance Multiple submitters
- RAX2 p.Met114Thr Uncertain significance Multiple submitters
-
RAX2 p.Pro107Leu
Uncertain significance
Multiple submitters
cone-rod dystrophy 11
- RAX2 p.Pro112Leu Uncertain significance Multiple submitters
- RAX2 p.Pro126Arg Uncertain significance Multiple submitters
- RAX2 p.Pro126Leu Uncertain significance Multiple submitters
-
RAX2 p.Pro138Leu
Uncertain significance
Multiple submitters
age related macular degeneration 6
- RAX2 p.Pro18Leu Uncertain significance Multiple submitters
- RAX2 p.Pro5Leu Uncertain significance Multiple submitters
-
RAX2 p.Ser92Leu
Uncertain significance
Multiple submitters
cone-rod dystrophy 11
- RAX2 p.Val54Gly Uncertain significance Multiple submitters
- RAX2 p.Val71Met Uncertain significance Multiple submitters
- RAX2 p.Val73Ala Uncertain significance Multiple submitters
- RAX2 p.Val73Met Uncertain significance Multiple submitters
- RAX2 p.Ala113Val Uncertain significance Single submitter
- RAX2 p.Ala152Val Uncertain significance Single submitter
-
RAX2 p.Ala156Thr
Uncertain significance
Single submitter
inherited retinal dystrophy
- RAX2 p.Ala174Ser Uncertain significance Single submitter
- RAX2 p.Ala176Gly Uncertain significance Single submitter
- RAX2 p.Ala180Ser Uncertain significance Single submitter
- RAX2 p.Ala184Thr Uncertain significance Single submitter
- RAX2 p.Ala22Thr Uncertain significance Single submitter
- RAX2 p.Ala45Thr Uncertain significance Single submitter
- RAX2 p.Ala48Thr Uncertain significance Single submitter
- RAX2 p.Ala61Val Uncertain significance Single submitter
- RAX2 p.Arg110His Uncertain significance Single submitter
-
RAX2 p.Arg179Ser
Uncertain significance
Single submitter
cone-rod dystrophy 11
- RAX2 p.Arg28Trp Uncertain significance Single submitter
- RAX2 p.Arg29Ser Uncertain significance Single submitter
- RAX2 p.Arg31Pro Uncertain significance Single submitter
- RAX2 p.Arg44Gly Uncertain significance Single submitter
- RAX2 p.Arg57His Uncertain significance Single submitter
- RAX2 p.Arg70Cys Uncertain significance Single submitter
- RAX2 p.Arg78Cys Uncertain significance Single submitter
- RAX2 p.Arg79Pro Uncertain significance Single submitter
- RAX2 p.Arg83His Uncertain significance Single submitter
- RAX2 p.Arg87Pro Uncertain significance Single submitter
- RAX2 p.Glu12Asp Uncertain significance Single submitter
- RAX2 p.Glu163Lys Uncertain significance Single submitter
- RAX2 p.Glu172Asp Uncertain significance Single submitter
- RAX2 p.Glu43Lys Uncertain significance Single submitter
- RAX2 p.Glu58Lys Uncertain significance Single submitter
- RAX2 p.Glu86Lys Uncertain significance Single submitter
- RAX2 p.Gly147Arg Uncertain significance Single submitter
- RAX2 p.Gly15Ala Uncertain significance Single submitter
- RAX2 p.Gly91Ala Uncertain significance Single submitter
- RAX2 p.Leu100Phe Uncertain significance Single submitter
- RAX2 p.Leu135Ile Uncertain significance Single submitter
- RAX2 p.Leu169Arg Uncertain significance Single submitter
- RAX2 p.Leu16Gln Uncertain significance Single submitter
- RAX2 p.Leu177Val Uncertain significance Single submitter
- RAX2 p.Lys171Asn Uncertain significance Single submitter
- RAX2 p.Lys171Glu Uncertain significance Single submitter
- RAX2 p.Lys25Thr Uncertain significance Single submitter
- RAX2 p.Lys81Thr Uncertain significance Single submitter
- RAX2 p.Met114Leu Uncertain significance Single submitter
- RAX2 p.Phe155Ser Uncertain significance Single submitter
- RAX2 p.Phe46Leu Uncertain significance Single submitter
- RAX2 p.Pro107Arg Uncertain significance Single submitter
- RAX2 p.Pro111Ala Uncertain significance Single submitter
- RAX2 p.Pro111Leu Uncertain significance Single submitter
- RAX2 p.Pro112Arg Uncertain significance Single submitter
- RAX2 p.Pro112Ser Uncertain significance Single submitter
- RAX2 p.Pro120Ala Uncertain significance Single submitter
- RAX2 p.Pro120Ser Uncertain significance Single submitter
- RAX2 p.Pro127Leu Uncertain significance Single submitter
- RAX2 p.Pro130Ser Uncertain significance Single submitter
- RAX2 p.Pro140Arg Uncertain significance Single submitter
- RAX2 p.Pro140Leu Uncertain significance Single submitter
- RAX2 p.Pro153Ser Uncertain significance Single submitter
- RAX2 p.Pro182Ala Uncertain significance Single submitter
- RAX2 p.Pro182Gln Uncertain significance Single submitter
- RAX2 p.Pro182Ser Uncertain significance Single submitter
- RAX2 p.Pro183Thr Uncertain significance Single submitter
- RAX2 p.Pro9Leu Uncertain significance Single submitter
- RAX2 p.Ser115Leu Uncertain significance Single submitter
- RAX2 p.Thr154Asn Uncertain significance Single submitter
- RAX2 p.Thr154Ser Uncertain significance Single submitter
- RAX2 p.Trp121Gly Uncertain significance Single submitter
- RAX2 p.Trp82Arg Uncertain significance Single submitter
- RAX2 p.Val95Met Uncertain significance Single submitter
-
RAX2 p.Pro112Thr
Uncertain significance
No assertion criteria
RAX2-related disorder
Predictors split 5
The independent predictors disagree with each other — read with care.
-
RAX2 p.Arg44Gln
Conflicting
Single submitter
cone-rod dystrophy 11
- RAX2 p.His40Tyr Uncertain significance Single submitter
- RAX2 p.Phe2Leu Uncertain significance Single submitter
- RAX2 p.Thr36Ala Uncertain significance Single submitter
-
RAX2 p.Glu172Gly
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All RAX2 variants
Pathogenic 7
- c.182_216+254del Single submitter
- p.His149fs Single submitter cone-rod dystrophy 11
- p.Met1Val Single submitter
- p.Thr33fs Single submitter
- p.Tyr55fs Single submitter
- p.Gly137Arg No assertion criteria cone-rod dystrophy 11 ⚠
- p.Ser49Pro No assertion criteria retinitis pigmentosa 95
Pathogenic/Likely pathogenic 1
- p.Ala156fs Multiple submitters RAX2-related disorder
Likely pathogenic 3
- p.Pro52Arg Multiple submitters RAX2-related disorder
- c.216+1G>A Single submitter RAX2-related disorder
- c.-11A>G Single submitter RAX2-related disorder
Conflicting classifications of pathogenicity 19
- c.217-8C>A Single submitter cone-rod dystrophy 11
- c.*7C>T Single submitter cone-rod dystrophy 11
- p.138PG[3] Single submitter cone-rod dystrophy 11
- p.Ala144= Single submitter age related macular degeneration 6
- p.Ala144Ser Single submitter ⚠
- p.Ala144Val Single submitter ⚠
- p.Arg167Gln Single submitter ⚠
- p.Arg31Cys Single submitter retinitis pigmentosa 95 ⚠
- p.Arg44Gln Single submitter cone-rod dystrophy 11 ⚠
- p.Arg78His Single submitter RAX2-related disorder ⚠
- p.Arg79Gln Single submitter RAX2-related disorder ⚠
- p.Glu7Lys Single submitter cone-rod dystrophy 11 ⚠
- p.Gly17Arg Single submitter cone-rod dystrophy 11 ⚠
- p.His50Tyr Single submitter retinitis pigmentosa 95 ⚠
- p.Lys26Gln Single submitter cone-rod dystrophy 11
- p.Pro107Ser Single submitter ⚠
- p.Pro98Leu Single submitter ⚠
- p.Ser115Ter Single submitter
- p.Val129Met Single submitter cone-rod dystrophy 11 ⚠
Benign 19
- c.217-8C>T Multiple submitters cone-rod dystrophy 11
- c.*1149C>T Multiple submitters cone-rod dystrophy 11
- c.*1366C>G Multiple submitters cone-rod dystrophy 11
- c.*381A>G Multiple submitters cone-rod dystrophy 11
- c.*720G>A Multiple submitters cone-rod dystrophy 11
- c.*785G>A Multiple submitters cone-rod dystrophy 11
- c.*866C>T Multiple submitters cone-rod dystrophy 11
- p.Gly15= Multiple submitters age related macular degeneration 6
- p.Pro52Leu Multiple submitters age related macular degeneration 6
- c.216+15del Single submitter
- c.216+15dup Single submitter
- c.-140G>A Single submitter
- c.*1324A>G Single submitter cone-rod dystrophy 11
- c.*647T>C Single submitter cone-rod dystrophy 11
- c.*680G>A Single submitter cone-rod dystrophy 11
- c.*689C>T Single submitter cone-rod dystrophy 11
- c.*902G>T Single submitter cone-rod dystrophy 11
- c.-33T>C No assertion criteria RAX2-related disorder
- c.-45G>A No assertion criteria RAX2-related disorder
Benign/Likely benign 11
- c.217-10C>T Multiple submitters cone-rod dystrophy 11
- c.-281G>A Multiple submitters cone-rod dystrophy 11
- c.*1169G>A Multiple submitters cone-rod dystrophy 11
- c.*191C>T Multiple submitters cone-rod dystrophy 11
- c.*45C>T Multiple submitters cone-rod dystrophy 11
- p.Ala94= Multiple submitters cone-rod dystrophy 11
- p.Ser115= Multiple submitters
- c.-270C>T Single submitter cone-rod dystrophy 11
- c.-316G>A Single submitter age related macular degeneration 6
- c.*1054C>T Single submitter cone-rod dystrophy 11
- c.*679C>T Single submitter cone-rod dystrophy 11
Likely benign 85
- c.216+16A>G Multiple submitters
- c.216+9A>G Multiple submitters
- c.217-11G>A Multiple submitters
- p.Ala105= Multiple submitters
- p.Ala62= Multiple submitters
- p.Arg78= Multiple submitters
- p.Gly123= Multiple submitters
- p.Phe108= Multiple submitters
- p.Phe146= Multiple submitters
- p.Phe155= Multiple submitters
- p.Phe46= Multiple submitters
- p.Pro101= Multiple submitters
- p.Pro126= Multiple submitters
- p.Pro127= Multiple submitters
- p.Pro138= Multiple submitters
- p.Pro140= Multiple submitters
- p.Pro18= Multiple submitters
- p.Pro98= Multiple submitters
- p.Ser4Arg Multiple submitters
- p.Ser92= Multiple submitters
- p.Thr11= Multiple submitters
- c.216+10C>T Single submitter
- c.216+11C>T Single submitter
- c.216+20C>T Single submitter
- c.216+6_216+7insCA Single submitter
- c.216+72C>T Single submitter
- c.217-12C>T Single submitter
- c.217-16C>G Single submitter
- c.217-4C>T Single submitter
- c.217-7C>T Single submitter
- c.217-9A>C Single submitter
- c.-115C>A Single submitter
- c.-115C>T Single submitter
- c.-133G>A Single submitter
- c.-13C>T Single submitter
- c.-19G>A Single submitter
- c.-19G>C Single submitter
- c.-26C>T Single submitter
- c.-331C>T Single submitter
- c.-46C>T Single submitter
- c.-50del Single submitter
- c.-50dup Single submitter
- c.-56C>T Single submitter
- c.-79C>G Single submitter
- c.*7C>A Single submitter inherited retinal dystrophy
- p.Ala103= Single submitter
- p.Ala160Thr Single submitter
- p.Ala170= Single submitter
- p.Ala184= Single submitter
- p.Ala22= Single submitter
- p.Ala45= Single submitter
- p.Arg110= Single submitter
- p.Arg70= Single submitter
- p.Arg79= Single submitter
- p.Arg84= Single submitter
- p.Asn30= Single submitter
- p.Glu59= Single submitter
- p.Gly137= Single submitter
- p.Gly139= Single submitter
- p.Gly19= Single submitter
- p.Gly6= Single submitter
- p.Gly8= Single submitter
- p.His65= Single submitter
- p.Leu100= Single submitter
- p.Leu142= Single submitter
- p.Leu42= Single submitter
- p.Lys81= Single submitter
- p.Phe159= Single submitter
- p.Pro107= Single submitter
- p.Pro112= Single submitter
- p.Pro124= Single submitter
- p.Pro133= Single submitter
- p.Pro148= Single submitter
- p.Pro153= Single submitter
- p.Pro182= Single submitter
- p.Pro23= Single submitter
- p.Pro5= Single submitter
- p.Pro52= Single submitter
- p.Pro9= Single submitter
- p.Ser165= Single submitter
- p.Ser49= Single submitter
- p.Tyr55= Single submitter
- p.Val129= Single submitter
- p.Val69= Single submitter
- p.Val95= Single submitter
Uncertain significance 166
- c.217-12C>A Multiple submitters
- c.*368C>T Multiple submitters cone-rod dystrophy 11
- p.Ala105Val Multiple submitters ⚠
- p.Ala109Thr Multiple submitters ⚠
- p.Ala113fs Multiple submitters retinitis pigmentosa 95
- p.Ala160Val Multiple submitters ⚠
- p.Ala164Val Multiple submitters ⚠
- p.Ala180Pro Multiple submitters ⚠
- p.Ala45Val Multiple submitters cone-rod dystrophy 11 ⚠
- p.Ala61Thr Multiple submitters ⚠
- p.Arg110Cys Multiple submitters ⚠
- p.Arg134Cys Multiple submitters ⚠
- p.Arg167Trp Multiple submitters ⚠
- p.Arg179Gly Multiple submitters age related macular degeneration 6 ⚠
- p.Arg28Gln Multiple submitters age related macular degeneration 6 ⚠
- p.Arg31His Multiple submitters cone-rod dystrophy 11 ⚠
- p.Arg44Trp Multiple submitters ⚠
- p.Arg57Cys Multiple submitters retinitis pigmentosa 95 ⚠
- p.Arg57Ser Multiple submitters ⚠
- p.Arg70His Multiple submitters ⚠
- p.Arg79Trp Multiple submitters ⚠
- p.Arg83Cys Multiple submitters inherited retinal dystrophy ⚠
- p.Arg84Cys Multiple submitters ⚠
- p.Arg84His Multiple submitters ⚠
- p.Arg87Gln Multiple submitters age related macular degeneration 6 ⚠
- p.Arg87Trp Multiple submitters ⚠
- p.Asp178Gly Multiple submitters ⚠
- p.Glu102Lys Multiple submitters ⚠
- p.Glu119Ter Multiple submitters
- p.Glu12Lys Multiple submitters ⚠
- p.Glu172Lys Multiple submitters macular degeneration
- p.Glu47Lys Multiple submitters ⚠
- p.Glu59Lys Multiple submitters ⚠
- p.Glu89Gln Multiple submitters ⚠
- p.Gly125Arg Multiple submitters ⚠
- p.Gly141Glu Multiple submitters ⚠
- p.Gly8Arg Multiple submitters ⚠
- p.His149Arg Multiple submitters cone-rod dystrophy 11 ⚠
- p.Leu106Met Multiple submitters ⚠
- p.Leu169Pro Multiple submitters ⚠
- p.Leu39Pro Multiple submitters cone-rod dystrophy 11 ⚠
- p.Lys26Glu Multiple submitters ⚠
- p.Met114Thr Multiple submitters ⚠
- p.Pro107Leu Multiple submitters cone-rod dystrophy 11 ⚠
- p.Pro112fs Multiple submitters
- p.Pro112Leu Multiple submitters ⚠
- p.Pro126Arg Multiple submitters ⚠
- p.Pro126Leu Multiple submitters ⚠
- p.Pro138Leu Multiple submitters age related macular degeneration 6 ⚠
- p.Pro18Leu Multiple submitters ⚠
- p.Pro5Leu Multiple submitters ⚠
- p.Ser165Tyr Multiple submitters
- p.Ser92Leu Multiple submitters cone-rod dystrophy 11 ⚠
- p.Val54Gly Multiple submitters ⚠
- p.Val71Met Multiple submitters ⚠
- p.Val73Ala Multiple submitters ⚠
- p.Val73Met Multiple submitters ⚠
- c.216+6G>A Single submitter
- c.217-11G>C Single submitter cone-rod dystrophy 11
- c.-17C>A Single submitter
- c.-269+8C>T Single submitter cone-rod dystrophy 11
- c.-275G>A Single submitter cone-rod dystrophy 11
- c.-286G>T Single submitter cone-rod dystrophy 11
- c.-319C>A Single submitter age related macular degeneration 6
- c.*1483C>T Single submitter cone-rod dystrophy 11
- c.*1490A>G Single submitter cone-rod dystrophy 11
- c.*1523T>C Single submitter cone-rod dystrophy 11
- c.*194C>G Single submitter cone-rod dystrophy 11
- c.*195G>A Single submitter cone-rod dystrophy 11
- c.*201C>T Single submitter cone-rod dystrophy 11
- c.*248C>T Single submitter cone-rod dystrophy 11
- c.*263C>T Single submitter cone-rod dystrophy 11
- c.*501C>T Single submitter age related macular degeneration 6
- c.*552C>T Single submitter cone-rod dystrophy 11
- c.*624G>A Single submitter cone-rod dystrophy 11
- c.*667G>A Single submitter cone-rod dystrophy 11
- c.*687A>G Single submitter cone-rod dystrophy 11
- c.*751G>A Single submitter cone-rod dystrophy 11
- c.*776C>T Single submitter age related macular degeneration 6
- c.*784C>T Single submitter age related macular degeneration 6
- c.*88C>T Single submitter cone-rod dystrophy 11
- c.*897C>T Single submitter cone-rod dystrophy 11
- c.*918G>A Single submitter cone-rod dystrophy 11
- c.*949C>T Single submitter cone-rod dystrophy 11
- c.*972T>A Single submitter cone-rod dystrophy 11
- p.Ala113Val Single submitter ⚠
- p.Ala128fs Single submitter
- p.Ala152Val Single submitter ⚠
- p.Ala156Thr Single submitter inherited retinal dystrophy ⚠
- p.Ala170Val Single submitter
- p.Ala174Ser Single submitter ⚠
- p.Ala176Gly Single submitter ⚠
- p.Ala180Ser Single submitter ⚠
- p.Ala184Thr Single submitter ⚠
- p.Ala22Thr Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Ala48Ser Single submitter
- p.Ala48Thr Single submitter ⚠
- p.Ala61Val Single submitter ⚠
- p.Arg110His Single submitter ⚠
- p.Arg179Ser Single submitter cone-rod dystrophy 11 ⚠
- p.Arg28Trp Single submitter ⚠
- p.Arg29Ser Single submitter ⚠
- p.Arg31Pro Single submitter ⚠
- p.Arg44Gly Single submitter ⚠
- p.Arg57His Single submitter ⚠
- p.Arg70Cys Single submitter ⚠
- p.Arg78Cys Single submitter ⚠
- p.Arg79Pro Single submitter ⚠
- p.Arg83His Single submitter ⚠
- p.Arg87Pro Single submitter ⚠
- p.Glu12Asp Single submitter ⚠
- p.Glu163Lys Single submitter ⚠
- p.Glu172Asp Single submitter ⚠
- p.Glu43Lys Single submitter ⚠
- p.Glu58Lys Single submitter ⚠
- p.Glu86Lys Single submitter ⚠
- p.Gly137_Pro138insLeuGly Single submitter
- p.Gly147Arg Single submitter ⚠
- p.Gly15Ala Single submitter ⚠
- p.Gly91Ala Single submitter ⚠
- p.His40Tyr Single submitter ⚠
- p.Leu100fs Single submitter
- p.Leu100Phe Single submitter ⚠
- p.Leu135Ile Single submitter ⚠
- p.Leu169Arg Single submitter ⚠
- p.Leu16Gln Single submitter ⚠
- p.Leu177Val Single submitter ⚠
- p.Lys171Asn Single submitter ⚠
- p.Lys171Glu Single submitter ⚠
- p.Lys25Thr Single submitter ⚠
- p.Lys26del Single submitter
- p.Lys81Thr Single submitter ⚠
- p.Met114Leu Single submitter ⚠
- p.Phe155Ser Single submitter ⚠
- p.Phe2Leu Single submitter ⚠
- p.Phe46Leu Single submitter ⚠
- p.Pro107Arg Single submitter ⚠
- p.Pro111Ala Single submitter ⚠
- p.Pro111Leu Single submitter ⚠
- p.Pro112Arg Single submitter ⚠
- p.Pro112Ser Single submitter ⚠
- p.Pro120Ala Single submitter ⚠
- p.Pro120Ser Single submitter ⚠
- p.Pro127Leu Single submitter ⚠
- p.Pro130Ser Single submitter ⚠
- p.Pro140Arg Single submitter ⚠
- p.Pro140Leu Single submitter ⚠
- p.Pro153Ser Single submitter ⚠
- p.Pro182Ala Single submitter ⚠
- p.Pro182Gln Single submitter ⚠
- p.Pro182Ser Single submitter ⚠
- p.Pro183Thr Single submitter ⚠
- p.Pro18fs Single submitter
- p.Pro9Leu Single submitter ⚠
- p.Ser115Leu Single submitter ⚠
- p.Ser92Ter Single submitter
- p.Ter185Trp Single submitter
- p.Thr154Asn Single submitter ⚠
- p.Thr154Ser Single submitter ⚠
- p.Thr36Ala Single submitter ⚠
- p.Trp121Gly Single submitter ⚠
- p.Trp82Arg Single submitter ⚠
- p.Val95Met Single submitter ⚠
- p.Glu172Gly No assertion criteria inherited retinal dystrophy ⚠
- p.Pro112Thr No assertion criteria RAX2-related disorder ⚠