RP2 — 439 ClinVar variants
All ClinVar germline RP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →
102 Pathogenic · 11 Pathogenic/Likely pathogenic · 56 Likely pathogenic · 23 Conflicting · 26 Benign · 18 Benign/Likely benign · 67 Likely benign · 136 Uncertain significance
Full RP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 125
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 16
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- RP2 p.Arg211His Conflicting Single submitter
- RP2 p.Asp76Tyr Conflicting Single submitter
-
RP2 p.Cys67Tyr
Conflicting
Single submitter
inherited retinal dystrophy
-
RP2 p.Cys86Arg
Conflicting
Single submitter
inherited retinal dystrophy
-
RP2 p.Glu138Ala
Conflicting
Single submitter
RP2-related disorder
-
RP2 p.Glu205Lys
Conflicting
Single submitter
Inborn genetic diseases
-
RP2 p.Glu256Asp
Conflicting
Single submitter
RP2-related disorder
-
RP2 p.Ile314Thr
Conflicting
Single submitter
Inborn genetic diseases
-
RP2 p.Leu189Pro
Conflicting
Single submitter
inherited retinal dystrophy
-
RP2 p.Leu93Pro
Conflicting
Single submitter
RP2-related disorder
-
RP2 p.Lys144Arg
Conflicting
Single submitter
Inborn genetic diseases
-
RP2 p.Phe145Ser
Conflicting
Single submitter
retinitis pigmentosa 2
- RP2 p.Thr332Met Conflicting Single submitter
- RP2 p.Thr80Ala Conflicting Single submitter
-
RP2 p.Tyr198Cys
Conflicting
Single submitter
Inborn genetic diseases
-
RP2 p.Val100Met
Conflicting
Single submitter
inherited retinal dystrophy
Predictors lean, ClinVar uncertain 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RP2 p.Arg106Ser Uncertain significance Multiple submitters
-
RP2 p.Arg225Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RP2 p.Arg282Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RP2 p.Asp85Ala Uncertain significance Multiple submitters
- RP2 p.Cys147Tyr Uncertain significance Multiple submitters
- RP2 p.Glu48Lys Uncertain significance Multiple submitters
- RP2 p.Gly349Ala Uncertain significance Multiple submitters
- RP2 p.Gly55Arg Uncertain significance Multiple submitters
-
RP2 p.Ile166Val
Uncertain significance
Multiple submitters
retinitis pigmentosa 2
-
RP2 p.Ile83Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RP2 p.Ile91Phe Uncertain significance Multiple submitters
-
RP2 p.Leu155Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RP2 p.Lys208Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RP2 p.Pro179Ser Uncertain significance Multiple submitters
-
RP2 p.Ser224Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RP2 p.Ser43Gly
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
RP2 p.Thr267Arg
Uncertain significance
Multiple submitters
retinitis pigmentosa 2
-
RP2 p.Val96Met
Uncertain significance
Multiple submitters
retinitis pigmentosa 2
- RP2 p.Ala193Ser Uncertain significance Single submitter
- RP2 p.Ala216Asp Uncertain significance Single submitter
- RP2 p.Arg103Gln Uncertain significance Single submitter
- RP2 p.Arg118Pro Uncertain significance Single submitter
-
RP2 p.Arg225Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- RP2 p.Asn142Thr Uncertain significance Single submitter
-
RP2 p.Asn217Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- RP2 p.Asn249Asp Uncertain significance Single submitter
- RP2 p.Asn293Asp Uncertain significance Single submitter
- RP2 p.Asn293Ser Uncertain significance Single submitter
-
RP2 p.Asp233Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
RP2 p.Asp244Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- RP2 p.Asp255Gly Uncertain significance Single submitter
- RP2 p.Asp30Gly Uncertain significance Single submitter
- RP2 p.Asp338Ala Uncertain significance Single submitter
- RP2 p.Asp345Asn Uncertain significance Single submitter
-
RP2 p.Asp36Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- RP2 p.Asp39Asn Uncertain significance Single submitter
-
RP2 p.Asp85Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
RP2 p.Cys105Tyr
Uncertain significance
Single submitter
retinitis pigmentosa 2
- RP2 p.Cys108Arg Uncertain significance Single submitter
-
RP2 p.Cys110Arg
Uncertain significance
Single submitter
retinitis pigmentosa
- RP2 p.Cys114Phe Uncertain significance Single submitter
- RP2 p.Cys122Arg Uncertain significance Single submitter
- RP2 p.Cys131Tyr Uncertain significance Single submitter
- RP2 p.Cys236Trp Uncertain significance Single submitter
- RP2 p.Cys67Arg Uncertain significance Single submitter
-
RP2 p.Cys67Trp
Uncertain significance
Single submitter
retinitis pigmentosa 2
- RP2 p.Cys89Arg Uncertain significance Single submitter
- RP2 p.Gln116Arg Uncertain significance Single submitter
- RP2 p.Gln116Glu Uncertain significance Single submitter
- RP2 p.Gln196Arg Uncertain significance Single submitter
- RP2 p.Gln266Pro Uncertain significance Single submitter
- RP2 p.Gln347Arg Uncertain significance Single submitter
- RP2 p.Glu206Gln Uncertain significance Single submitter
- RP2 p.Gly261Cys Uncertain significance Single submitter
- RP2 p.Gly295Cys Uncertain significance Single submitter
- RP2 p.Gly306Asp Uncertain significance Single submitter
- RP2 p.Gly55Val Uncertain significance Single submitter
- RP2 p.Gly94Arg Uncertain significance Single submitter
- RP2 p.Ile137Thr Uncertain significance Single submitter
- RP2 p.Ile143Thr Uncertain significance Single submitter
-
RP2 p.Ile247Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RP2 p.Ile298Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RP2 p.Ile346Val Uncertain significance Single submitter
- RP2 p.Ile64Thr Uncertain significance Single submitter
-
RP2 p.Ile91Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RP2 p.Leu164Pro Uncertain significance Single submitter
- RP2 p.Lys294Arg Uncertain significance Single submitter
- RP2 p.Lys294Gln Uncertain significance Single submitter
- RP2 p.Lys34Glu Uncertain significance Single submitter
- RP2 p.Met257Ile Uncertain significance Single submitter
- RP2 p.Met324Ile Uncertain significance Single submitter
- RP2 p.Met324Val Uncertain significance Single submitter
- RP2 p.Pro54Leu Uncertain significance Single submitter
- RP2 p.Pro95His Uncertain significance Single submitter
- RP2 p.Ser139Pro Uncertain significance Single submitter
- RP2 p.Ser231Asn Uncertain significance Single submitter
- RP2 p.Ser99Arg Uncertain significance Single submitter
-
RP2 p.Thr204Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RP2 p.Val210Ile Uncertain significance Single submitter
- RP2 p.Val297Ile Uncertain significance Single submitter
- RP2 p.Val308Ile Uncertain significance Single submitter
- RP2 p.Val57Ala Uncertain significance Single submitter
- RP2 p.Val57Ile Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- RP2 p.Arg211Cys Uncertain significance Multiple submitters
-
RP2 p.Arg251Gly
Benign/Likely benign
Multiple submitters
retinitis pigmentosa 2
-
RP2 p.Arg282Trp
Benign/Likely benign
Multiple submitters
retinitis pigmentosa
- RP2 p.Arg52His Uncertain significance Multiple submitters
- RP2 p.Asp161Tyr Uncertain significance Multiple submitters
-
RP2 p.Cys108Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RP2 p.Gly163Glu Uncertain significance Multiple submitters
-
RP2 p.Ser15Trp
Uncertain significance
Multiple submitters
Stargardt disease
-
RP2 p.Ser172Gly
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
RP2 p.Ala277Thr
Conflicting
Single submitter
Inborn genetic diseases
-
RP2 p.Asn169Ser
Conflicting
Single submitter
retinitis pigmentosa
- RP2 p.Asn173Asp Uncertain significance Single submitter
-
RP2 p.Cys110Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- RP2 p.Gln134Arg Uncertain significance Single submitter
-
RP2 p.Gly182Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- RP2 p.Gly226Cys Uncertain significance Single submitter
- RP2 p.Gly261Val Uncertain significance Single submitter
-
RP2 p.Gly306Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RP2 p.Ile254Thr
Uncertain significance
Single submitter
retinitis pigmentosa 2
-
RP2 p.Phe117Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RP2 p.Phe319Leu Uncertain significance Single submitter
- RP2 p.Phe42Leu Uncertain significance Single submitter
- RP2 p.Thr56Arg Uncertain significance Single submitter
- RP2 p.Thr56Met Conflicting Single submitter
-
RP2 p.Tyr40Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- RP2 p.Val180Met Uncertain significance Single submitter
All RP2 variants
Pathogenic 102
- c.768+1G>T Multiple submitters retinitis pigmentosa 2
- c.884-1G>A Multiple submitters RP2-related disorder
- c.969+3A>G Multiple submitters RP2-related disorder
- p.Arg118fs Multiple submitters
- p.Arg120Ter Multiple submitters RP2-related disorder
- p.Arg211fs Multiple submitters
- p.Asp107fs Multiple submitters RP2-related disorder
- p.Cys86Tyr Multiple submitters retinitis pigmentosa 2
- p.Gln229Ter Multiple submitters
- p.Gln26Ter Multiple submitters RP2-related disorder
- p.Leu129fs Multiple submitters inherited retinal dystrophy
- p.Phe102fs Multiple submitters RP2-related disorder
- p.Phe157fs Multiple submitters retinitis pigmentosa 2
- p.Ser172fs Multiple submitters RP2-related disorder
- p.Trp150Ter Multiple submitters RP2-related disorder
- p.Tyr198fs Multiple submitters retinitis pigmentosa 2
- c.102+1G>A Single submitter inherited retinal dystrophy
- c.769-1G>A Single submitter inherited retinal dystrophy
- c.769-2A>G Single submitter
- c.883+1del Single submitter retinitis pigmentosa 2
- c.884-1G>C Single submitter inherited retinal dystrophy
- c.884-2A>G Single submitter
- c.969+1dup Single submitter retinitis pigmentosa
- c.969+2T>G Single submitter retinitis pigmentosa 2
- p.Ala132fs Single submitter
- p.Ala285fs Single submitter
- p.Arg118Leu Single submitter retinitis pigmentosa 2
- p.Arg225fs Single submitter RP2-related disorder
- p.Arg282delinsPhePhePhePhePhePheXaaXaaXaaXaaTer Single submitter
- p.Arg282fs Single submitter
- p.Asn88fs Single submitter
- p.Asp161fs Single submitter
- p.Asp305fs Single submitter
- p.Cys108fs Single submitter
- p.Cys311fs Single submitter retinitis pigmentosa 3
- p.Cys67_Glu68delinsTer Single submitter retinitis pigmentosa
- p.Cys70fs Single submitter
- p.Cys86fs Single submitter
- p.Gln149Ter Single submitter retinitis pigmentosa 2
- p.Gln158Ter Single submitter
- p.Gln229fs Single submitter retinal disorder
- p.Gln26fs Single submitter
- p.Gln278Ter Single submitter
- p.Gln31Ter Single submitter
- p.Glu138fs Single submitter
- p.Glu138Gly Single submitter
- p.Glu301Ter Single submitter
- p.Gly295fs Single submitter
- p.Gly59Ter Single submitter
- p.Ile166fs Single submitter
- p.Ile174fs Single submitter
- p.Ile254fs Single submitter retinitis pigmentosa 2
- p.Ile83fs Single submitter
- p.Leu112fs Single submitter retinitis pigmentosa 2
- p.Leu155Ter Single submitter
- p.Leu237Ter Single submitter
- p.Leu240fs Single submitter
- p.Leu53fs Single submitter retinitis pigmentosa 3
- p.Lys144Ter Single submitter
- p.Lys230fs Single submitter RP2-related disorder
- p.Lys260Ter Single submitter
- p.Phe101fs Single submitter retinitis pigmentosa 2
- p.Phe263fs Single submitter
- p.Pro202fs Single submitter
- p.Pro290fs Single submitter
- p.Pro95_Val96insTer Single submitter
- p.Pro95Leu Single submitter
- p.Ser140Phe Single submitter RP2-related disorder
- p.Ser165fs Single submitter
- p.Ser181fs Single submitter
- p.Ser224fs Single submitter
- p.Ser271_Met272insTer Single submitter
- p.Thr170_Trp171insTer Single submitter
- p.Thr214fs Single submitter
- p.Thr246fs Single submitter
- p.Thr267fs Single submitter
- p.Thr80fs Single submitter
- p.Thr87delinsTyrHisTer Single submitter
- p.Trp171fs Single submitter
- p.Trp186_Glu191delinsTer Single submitter RP2-related disorder
- p.Trp186Ter Single submitter
- p.Tyr151Ter Single submitter RP2-related disorder
- p.Tyr245Ter Single submitter inherited retinal dystrophy
- p.Tyr27Ter Single submitter
- p.Tyr40fs Single submitter
- p.Val100Ter Single submitter
- p.Val280fs Single submitter inherited retinal dystrophy
- p.Val297fs Single submitter
- p.Val310fs Single submitter
- c.(102+1_103-1 No assertion criteria inherited retinal dystrophy
- c.102+1G>T No assertion criteria retinitis pigmentosa
- c.102+3A>C No assertion criteria Leber congenital amaurosis
- p.Cys122fs No assertion criteria retinitis pigmentosa
- p.Gln31fs No assertion criteria inherited retinal dystrophy
- p.Gly163fs No assertion criteria Leber congenital amaurosis
- p.Ile298fs No assertion criteria inherited retinal dystrophy
- p.Lys323fs No assertion criteria inherited retinal dystrophy
- p.Lys46fs No assertion criteria inherited retinal dystrophy
- p.Phe177fs No assertion criteria retinitis pigmentosa
- p.Ser141Ter No assertion criteria inherited retinal dystrophy
- p.Trp171Ter No assertion criteria inherited retinal dystrophy
- p.Tyr152Ilefs*4 No assertion criteria retinitis pigmentosa 2
Pathogenic/Likely pathogenic 11
- c.969+2T>C Multiple submitters retinitis pigmentosa 2
- p.Ala209fs Multiple submitters RP2-related disorder
- p.Arg118Cys Multiple submitters RP2-related disorder
- p.Arg118His Multiple submitters RP2-related disorder
- p.Asp287fs Multiple submitters RP2-related disorder
- p.Cys122Tyr Multiple submitters retinitis pigmentosa
- p.Glu234Ter Multiple submitters RP2-related disorder
- p.Glu269fs Multiple submitters inherited retinal dystrophy
- p.Ile137del Multiple submitters RP2-related disorder
- p.Ser271fs Multiple submitters RP2-related disorder
- p.Trp29Ter Multiple submitters inherited retinal dystrophy
Likely pathogenic 56
- c.103-13_105del Multiple submitters RP2-related disorder
- p.Gly226fs Multiple submitters RP2-related disorder
- p.Leu253Arg Multiple submitters retinitis pigmentosa
- p.Lys34= Multiple submitters retinitis pigmentosa 3
- c.102+3A>T Single submitter
- c.103-2A>C Single submitter RP2-related disorder
- c.103-2A>G Single submitter retinitis pigmentosa 2
- c.768+1G>A Single submitter retinitis pigmentosa 2
- c.768+1G>C Single submitter RP2-related disorder
- c.769-1G>T Single submitter RP2-related disorder
- c.769-3C>A Single submitter
- c.883+2T>C Single submitter RP2-related disorder
- c.884-2A>T Single submitter RP2-related disorder
- c.884-9T>A Single submitter retinitis pigmentosa 2
- c.969+3A>C Single submitter retinitis pigmentosa 2
- c.970-51_*1del Single submitter retinitis pigmentosa 2
- p.Arg118Ser Single submitter retinal disorder
- p.Arg228fs Single submitter retinitis pigmentosa 2
- p.Arg279fs Single submitter RP2-related disorder
- p.Asn316Ter Single submitter retinitis pigmentosa 2
- p.Asp84Ter Single submitter RP2-related disorder
- p.Cys108Ter Single submitter RP2-related disorder
- p.Cys131fs Single submitter inherited retinal dystrophy
- p.Gln116Ter Single submitter RP2-related disorder
- p.Gln227Ter Single submitter RP2-related disorder
- p.Gln312Ter Single submitter RP2-related disorder
- p.Gln60Ter Single submitter RP2-related disorder
- p.Gln61Ter Single submitter RP2-related disorder
- p.Glu138Ter Single submitter retinitis pigmentosa 2
- p.Glu269Ter Single submitter retinitis pigmentosa 2
- p.Glu283fs Single submitter RP2-related disorder
- p.Gly259fs Single submitter RP2-related disorder
- p.Gly261fs Single submitter RP2-related disorder
- p.His175Pro Single submitter retinitis pigmentosa 2
- p.Leu93fs Single submitter retinitis pigmentosa 2
- p.Lys124Ter Single submitter RP2-related disorder
- p.Lys144fs Single submitter RP2-related disorder
- p.Met41fs Single submitter RP2-related disorder
- p.Phe128fs Single submitter RP2-related disorder
- p.Phe167fs Single submitter RP2-related disorder
- p.Phe75fs Single submitter retinitis pigmentosa
- p.Phe92fs Single submitter retinitis pigmentosa
- p.Pro200fs Single submitter retinitis pigmentosa 2
- p.Ser139fs Single submitter retinitis pigmentosa 2
- p.Ser99fs Single submitter inherited retinal dystrophy
- p.Thr203fs Single submitter retinitis pigmentosa 2
- p.Val57fs Single submitter RP2-related disorder
- p.Ala113Asp No assertion criteria retinitis pigmentosa
- p.Arg118Gly No assertion criteria retinitis pigmentosa
- p.Asn169fs No assertion criteria inherited retinal dystrophy
- p.Asp276fs No assertion criteria retinitis pigmentosa
- p.Cys130Ter No assertion criteria retinitis pigmentosa
- p.Cys89Tyr No assertion criteria inherited retinal dystrophy
- p.Gln61fs No assertion criteria retinitis pigmentosa 2
- p.Glu283Ter No assertion criteria inherited retinal dystrophy
- p.Leu253fs No assertion criteria retinitis pigmentosa 2
Conflicting classifications of pathogenicity 23
- c.884-14G>A Single submitter retinitis pigmentosa 2
- p.Ala277Thr Single submitter Inborn genetic diseases ⚠
- p.Arg211His Single submitter ⚠
- p.Asn169Ser Single submitter retinitis pigmentosa ⚠
- p.Asp276Glu Single submitter Inborn genetic diseases
- p.Asp76Tyr Single submitter ⚠
- p.Cys67Tyr Single submitter inherited retinal dystrophy ⚠
- p.Cys86Arg Single submitter inherited retinal dystrophy ⚠
- p.Glu138Ala Single submitter RP2-related disorder ⚠
- p.Glu205Lys Single submitter Inborn genetic diseases ⚠
- p.Glu256Asp Single submitter RP2-related disorder ⚠
- p.Ile314Thr Single submitter Inborn genetic diseases ⚠
- p.Leu189Pro Single submitter inherited retinal dystrophy ⚠
- p.Leu93Pro Single submitter RP2-related disorder ⚠
- p.Lys144Arg Single submitter Inborn genetic diseases ⚠
- p.Phe145Ser Single submitter retinitis pigmentosa 2 ⚠
- p.Thr204= Single submitter inherited retinal dystrophy
- p.Thr332Met Single submitter ⚠
- p.Thr56Met Single submitter ⚠
- p.Thr80Ala Single submitter ⚠
- p.Tyr198Cys Single submitter Inborn genetic diseases ⚠
- p.Val100Met Single submitter inherited retinal dystrophy ⚠
- p.Val297Leu Single submitter retinitis pigmentosa 2
Benign 26
- c.*828G>A Multiple submitters retinitis pigmentosa
- p.Ile201Val Multiple submitters retinitis pigmentosa
- c.769-16A>G Single submitter
- c.969+114GT[16] Single submitter
- c.969+114GT[18] Single submitter
- c.*1908G>A Single submitter retinitis pigmentosa
- c.*2085T>C Single submitter retinitis pigmentosa
- c.*2156A>G Single submitter retinitis pigmentosa
- c.*2163T>C Single submitter retinitis pigmentosa
- c.*435C>T Single submitter retinitis pigmentosa
- c.*904A>G Single submitter retinitis pigmentosa
- c.*958A>C Single submitter retinitis pigmentosa
- p.Ala299Thr Single submitter
- p.Arg218Ser Single submitter
- p.Arg32Leu Single submitter
- p.Asp121= Single submitter
- p.Asp76= Single submitter
- p.Gln116= Single submitter
- p.Gly146= Single submitter
- p.Gly94= Single submitter
- p.Ile247Thr Single submitter
- p.Ile346Thr Single submitter
- p.Ile90Val Single submitter
- p.Met41Ile Single submitter
- p.Ser99= Single submitter
- p.Thr203= Single submitter
Benign/Likely benign 18
- c.102+15G>A Multiple submitters
- c.970-20T>A Multiple submitters
- p.Arg251Gly Multiple submitters retinitis pigmentosa 2 ⚠
- p.Arg282Trp Multiple submitters retinitis pigmentosa ⚠
- p.Asn303= Multiple submitters
- p.Asn320Ser Multiple submitters
- p.Asp66Asn Multiple submitters
- p.Glu317Lys Multiple submitters inherited retinal dystrophy
- p.Met272Val Multiple submitters retinitis pigmentosa
- p.Met41Val Multiple submitters
- p.Phe117= Multiple submitters
- p.Phe319= Multiple submitters
- p.Pro202= Multiple submitters retinitis pigmentosa
- p.Pro54= Multiple submitters
- p.Ser232= Multiple submitters
- p.Ser334Tyr Multiple submitters retinitis pigmentosa 2
- p.Thr332= Multiple submitters
- p.Thr87Ile Multiple submitters retinitis pigmentosa
Likely benign 67
- c.102+13G>C Multiple submitters
- c.969+18C>G Multiple submitters
- p.Ala250= Multiple submitters
- p.Pro95= Multiple submitters
- p.Thr111= Multiple submitters
- c.102+13G>T Single submitter
- c.102+14T>A Single submitter
- c.102+17A>G Single submitter
- c.102+19C>A Single submitter
- c.102+20C>T Single submitter
- c.103-16T>A Single submitter
- c.103-6C>T Single submitter
- c.768+12G>A Single submitter
- c.768+12G>C Single submitter
- c.768+13A>G Single submitter
- c.769-19T>C Single submitter
- c.769-20A>G Single submitter
- c.769-20A>T Single submitter
- c.883+10G>A Single submitter
- c.883+19G>A Single submitter
- c.883+20T>C Single submitter
- c.884-9T>G Single submitter
- c.969+18C>T Single submitter
- c.969+7G>A Single submitter
- c.970-17_970-6del Single submitter
- c.970-9T>G Single submitter
- p.Ala132= Single submitter
- p.Ala193= Single submitter
- p.Ala344= Single submitter
- p.Arg118= Single submitter
- p.Arg32= Single submitter
- p.Asn169= Single submitter
- p.Asn217Ser Single submitter
- p.Asn316= Single submitter
- p.Asn342= Single submitter
- p.Asn69= Single submitter
- p.Asp192= Single submitter
- p.Asp66= Single submitter
- p.Cys122= Single submitter
- p.Gln149= Single submitter
- p.Gln227= Single submitter
- p.Gln266Arg Single submitter
- p.Gln60= Single submitter
- p.Glu234= Single submitter
- p.Glu269= Single submitter
- p.Glu301= Single submitter
- p.Glu331Lys Single submitter
- p.Gly163= Single submitter
- p.Gly304= Single submitter
- p.Gly321= Single submitter
- p.Ile143= Single submitter
- p.Ile223Lys Single submitter
- p.Ile223Val Single submitter Inborn genetic diseases
- p.Leu188= Single submitter
- p.Leu207= Single submitter
- p.Leu240= Single submitter
- p.Leu240Phe Single submitter
- p.Leu300Val Single submitter
- p.Met41Thr Single submitter
- p.Pro290= Single submitter
- p.Ser235= Single submitter
- p.Thr170= Single submitter
- p.Thr56= Single submitter
- p.Tyr198His Single submitter Inborn genetic diseases
- p.Tyr245= Single submitter
- p.Val239= Single submitter
- p.Val270= Single submitter
Uncertain significance 136
- c.*33C>G Multiple submitters retinitis pigmentosa
- p.Arg106Ser Multiple submitters ⚠
- p.Arg211Cys Multiple submitters ⚠
- p.Arg225Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg282Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg52His Multiple submitters ⚠
- p.Asp161Tyr Multiple submitters ⚠
- p.Asp85Ala Multiple submitters ⚠
- p.Cys108Ser Multiple submitters Inborn genetic diseases ⚠
- p.Cys147Tyr Multiple submitters ⚠
- p.Glu48Lys Multiple submitters ⚠
- p.Gly163Glu Multiple submitters ⚠
- p.Gly349Ala Multiple submitters ⚠
- p.Gly55Arg Multiple submitters ⚠
- p.Ile166Val Multiple submitters retinitis pigmentosa 2 ⚠
- p.Ile83Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile91Phe Multiple submitters ⚠
- p.Leu155Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys208Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro179Ser Multiple submitters ⚠
- p.Ser15Trp Multiple submitters Stargardt disease ⚠
- p.Ser172Gly Multiple submitters retinitis pigmentosa ⚠
- p.Ser224Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ser43Gly Multiple submitters inherited retinal dystrophy ⚠
- p.Thr267Arg Multiple submitters retinitis pigmentosa 2 ⚠
- p.Val96Met Multiple submitters retinitis pigmentosa 2 ⚠
- c.102+2_102+5del Single submitter inherited retinal dystrophy
- c.102+3A>G Single submitter
- c.768+3A>G Single submitter
- c.769-3C>G Single submitter
- c.769-9T>G Single submitter retinitis pigmentosa 2
- c.969+1G>A Single submitter
- c.969+4C>G Single submitter
- c.970-18A>G Single submitter
- c.970-1G>A Single submitter
- c.*1081C>T Single submitter retinitis pigmentosa
- c.*1098G>A Single submitter retinitis pigmentosa
- c.*1176G>A Single submitter retinitis pigmentosa
- c.*141T>A Single submitter retinitis pigmentosa
- c.*1447T>C Single submitter retinitis pigmentosa
- c.*1458G>A Single submitter retinitis pigmentosa
- c.*1743T>C Single submitter retinitis pigmentosa
- c.*1926G>A Single submitter retinitis pigmentosa
- c.*1947C>G Single submitter retinitis pigmentosa
- c.*504T>A Single submitter retinitis pigmentosa
- c.*741C>T Single submitter retinitis pigmentosa
- c.*746C>T Single submitter retinitis pigmentosa
- c.*798T>C Single submitter retinitis pigmentosa
- p.Ala193Ser Single submitter ⚠
- p.Ala216Asp Single submitter ⚠
- p.Arg103Gln Single submitter ⚠
- p.Arg118Pro Single submitter ⚠
- p.Arg225Gln Single submitter Inborn genetic diseases ⚠
- p.Asn142Thr Single submitter ⚠
- p.Asn173Asp Single submitter ⚠
- p.Asn217Asp Single submitter Inborn genetic diseases ⚠
- p.Asn249Asp Single submitter ⚠
- p.Asn293Asp Single submitter ⚠
- p.Asn293Ser Single submitter ⚠
- p.Asp233Asn Single submitter Inborn genetic diseases ⚠
- p.Asp244Asn Single submitter Inborn genetic diseases ⚠
- p.Asp255Glu Single submitter
- p.Asp255Gly Single submitter ⚠
- p.Asp30Gly Single submitter ⚠
- p.Asp338Ala Single submitter ⚠
- p.Asp345Asn Single submitter ⚠
- p.Asp36Asn Single submitter Inborn genetic diseases ⚠
- p.Asp39Asn Single submitter ⚠
- p.Asp85Asn Single submitter Inborn genetic diseases ⚠
- p.Cys105Tyr Single submitter retinitis pigmentosa 2 ⚠
- p.Cys108Arg Single submitter ⚠
- p.Cys110Arg Single submitter retinitis pigmentosa ⚠
- p.Cys110Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys114Phe Single submitter ⚠
- p.Cys122Arg Single submitter ⚠
- p.Cys131Tyr Single submitter ⚠
- p.Cys236Trp Single submitter ⚠
- p.Cys67Arg Single submitter ⚠
- p.Cys67Trp Single submitter retinitis pigmentosa 2 ⚠
- p.Cys89Arg Single submitter ⚠
- p.Gln116Arg Single submitter ⚠
- p.Gln116Glu Single submitter ⚠
- p.Gln134Arg Single submitter ⚠
- p.Gln196Arg Single submitter ⚠
- p.Gln266Pro Single submitter ⚠
- p.Gln347Arg Single submitter ⚠
- p.Glu206Gln Single submitter ⚠
- p.Gly182Ala Single submitter Inborn genetic diseases ⚠
- p.Gly226_Gln229del Single submitter
- p.Gly226Cys Single submitter ⚠
- p.Gly261Cys Single submitter ⚠
- p.Gly261Val Single submitter ⚠
- p.Gly295Cys Single submitter ⚠
- p.Gly306Asp Single submitter ⚠
- p.Gly306Val Single submitter Inborn genetic diseases ⚠
- p.Gly55Val Single submitter ⚠
- p.Gly94Arg Single submitter ⚠
- p.Ile137Thr Single submitter ⚠
- p.Ile143Thr Single submitter ⚠
- p.Ile247Val Single submitter Inborn genetic diseases ⚠
- p.Ile254Thr Single submitter retinitis pigmentosa 2 ⚠
- p.Ile298Thr Single submitter Inborn genetic diseases ⚠
- p.Ile346Val Single submitter ⚠
- p.Ile64Thr Single submitter ⚠
- p.Ile91Leu Single submitter Inborn genetic diseases ⚠
- p.Leu164Pro Single submitter ⚠
- p.Lys109Glu Single submitter
- p.Lys294Arg Single submitter ⚠
- p.Lys294Gln Single submitter ⚠
- p.Lys34Asn Single submitter
- p.Lys34Glu Single submitter ⚠
- p.Met257Ile Single submitter ⚠
- p.Met324Ile Single submitter ⚠
- p.Met324Val Single submitter ⚠
- p.Phe117Leu Single submitter Inborn genetic diseases ⚠
- p.Phe319Leu Single submitter ⚠
- p.Phe42Leu Single submitter ⚠
- p.Pro54Leu Single submitter ⚠
- p.Pro95His Single submitter ⚠
- p.Ser139Pro Single submitter ⚠
- p.Ser140= Single submitter retinitis pigmentosa
- p.Ser231Asn Single submitter ⚠
- p.Ser99Arg Single submitter ⚠
- p.Thr204Ser Single submitter Inborn genetic diseases ⚠
- p.Thr56Arg Single submitter ⚠
- p.Trp150Cys Single submitter
- p.Tyr40Cys Single submitter Inborn genetic diseases ⚠
- p.Val180Met Single submitter ⚠
- p.Val195_Gln196del Single submitter
- p.Val210Ile Single submitter ⚠
- p.Val297Ile Single submitter ⚠
- p.Val308Ile Single submitter ⚠
- p.Val326_Ser327del Single submitter
- p.Val57Ala Single submitter ⚠
- p.Val57Ile Single submitter ⚠
- p.Thr87_Cys89del No assertion criteria inherited retinal dystrophy