RHO — 682 ClinVar variants
All ClinVar germline RHO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 267 flagged for review →
69 Pathogenic · 55 Pathogenic/Likely pathogenic · 76 Likely pathogenic · 53 Conflicting · 17 Benign · 12 Benign/Likely benign · 116 Likely benign · 284 Uncertain significance
Full RHO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 267
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 15
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
RHO p.Asn15Ser
Pathogenic/Likely pathogenic
Multiple submitters
RHO-related disorder
-
RHO p.Leu88Pro
Likely pathogenic
Multiple submitters
inherited retinal dystrophy
-
RHO p.Pro347Ala
Pathogenic
Multiple submitters
RHO-related disorder
-
RHO p.Pro347Gln
Pathogenic
Multiple submitters
RHO-related disorder
-
RHO p.Pro347Leu
Pathogenic/Likely pathogenic
Multiple submitters
RHO-related disorder
-
RHO p.Pro347Ser
Pathogenic
Multiple submitters
RHO-related disorder
-
RHO p.Val345Ala
Pathogenic/Likely pathogenic
Multiple submitters
RHO-related disorder
-
RHO p.Val345Met
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
-
RHO p.Ala346Pro
Likely pathogenic
Single submitter
RHO-related disorder
-
RHO p.Gln344Pro
Likely pathogenic
Single submitter
RHO-related disorder
- RHO p.Pro347Thr Pathogenic Single submitter
-
RHO p.Val345Gly
Pathogenic
Single submitter
inherited retinal dystrophy
-
RHO p.Val345Leu
Pathogenic
Single submitter
retinitis pigmentosa 4
-
RHO p.Ala166Val
Likely pathogenic
No assertion criteria
retinitis pigmentosa
-
RHO p.Ala346Asp
Likely pathogenic
No assertion criteria
inherited retinal dystrophy
Predictors agree, ClinVar conflicts 28
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- RHO p.Ala333Val Conflicting Single submitter
-
RHO p.Ala42Thr
Conflicting
Single submitter
inherited retinal dystrophy
-
RHO p.Arg252Pro
Conflicting
Single submitter
inherited retinal dystrophy
-
RHO p.Asn15Asp
Conflicting
Single submitter
RHO-related disorder
-
RHO p.Asn78Ile
Conflicting
Single submitter
inherited retinal dystrophy
-
RHO p.Asp190His
Conflicting
Single submitter
retinitis pigmentosa
-
RHO p.Cys187Ser
Conflicting
Single submitter
inherited retinal dystrophy
-
RHO p.Gln344His
Conflicting
Single submitter
retinitis pigmentosa
-
RHO p.Glu341Lys
Conflicting
Single submitter
RHO-related disorder
-
RHO p.Gly101Glu
Conflicting
Single submitter
retinitis pigmentosa 4
-
RHO p.Gly101Val
Conflicting
Single submitter
retinitis pigmentosa 4
-
RHO p.Gly174Ser
Conflicting
Single submitter
inherited retinal dystrophy
-
RHO p.Gly18Asp
Conflicting
Single submitter
retinitis pigmentosa 4
-
RHO p.Gly3Asp
Conflicting
Single submitter
RHO-related disorder
- RHO p.Leu226Pro Conflicting Single submitter
-
RHO p.Leu95Pro
Conflicting
Single submitter
RHO-related disorder
-
RHO p.Met253Ile
Conflicting
Single submitter
inherited retinal dystrophy
-
RHO p.Pro107Ser
Conflicting
Single submitter
inherited retinal dystrophy
-
RHO p.Ser127Phe
Conflicting
Single submitter
RHO-related disorder
-
RHO p.Ser186Leu
Conflicting
Single submitter
RHO-related disorder
-
RHO p.Ser343Asn
Conflicting
Single submitter
RHO-related disorder
-
RHO p.Thr193Lys
Conflicting
Single submitter
inherited retinal dystrophy
-
RHO p.Thr193Met
Conflicting
Single submitter
inherited retinal dystrophy
-
RHO p.Thr320Asn
Conflicting
Single submitter
RHO-related disorder
-
RHO p.Thr340Met
Conflicting
Single submitter
inherited retinal dystrophy
-
RHO p.Thr342Met
Conflicting
Single submitter
congenital stationary night blindness autosomal dominant 1
-
RHO p.Val104Ile
Conflicting
Single submitter
inherited retinal dystrophy
-
RHO p.Val209Met
Conflicting
Single submitter
inherited retinal dystrophy
Predictors lean, ClinVar uncertain 155
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 155
- RHO p.Ala153Asp Uncertain significance Multiple submitters
- RHO p.Ala153Val Uncertain significance Multiple submitters
-
RHO p.Ala169Thr
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- RHO p.Ala16Val Uncertain significance Multiple submitters
-
RHO p.Arg135Gln
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
RHO p.Arg147His
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
RHO p.Arg252Cys
Uncertain significance
Multiple submitters
retinitis pigmentosa 4
-
RHO p.Arg69Cys
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
RHO p.Asp331Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RHO p.Cys140Ser Uncertain significance Multiple submitters
- RHO p.Gln236Lys Uncertain significance Multiple submitters
- RHO p.Gln344Glu Uncertain significance Multiple submitters
- RHO p.Glu5Gly Uncertain significance Multiple submitters
- RHO p.Gly284Ser Uncertain significance Multiple submitters
- RHO p.Gly6Ser Uncertain significance Multiple submitters
- RHO p.His100Arg Uncertain significance Multiple submitters
- RHO p.Ile214Val Uncertain significance Multiple submitters
-
RHO p.Ile217Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RHO p.Leu59Arg Uncertain significance Multiple submitters
- RHO p.Leu59Pro Uncertain significance Multiple submitters
-
RHO p.Leu68Arg
Uncertain significance
Multiple submitters
retinitis pigmentosa
- RHO p.Met155Thr Uncertain significance Multiple submitters
- RHO p.Met309Leu Uncertain significance Multiple submitters
-
RHO p.Phe45Leu
Uncertain significance
Multiple submitters
retinitis pigmentosa 4
- RHO p.Phe9Leu Uncertain significance Multiple submitters
- RHO p.Phe9Val Uncertain significance Multiple submitters
-
RHO p.Pro196Thr
Uncertain significance
Multiple submitters
congenital stationary night blindness autosomal dominant 1
- RHO p.Pro34Leu Uncertain significance Multiple submitters
-
RHO p.Thr58Met
Uncertain significance
Multiple submitters
microcephaly 17, primary, autosomal recessive
-
RHO p.Thr62Asn
Uncertain significance
Multiple submitters
retinitis pigmentosa 4
- RHO p.Tyr136His Uncertain significance Multiple submitters
-
RHO p.Tyr191Asp
Uncertain significance
Multiple submitters
retinitis pigmentosa 4
- RHO p.Val210Phe Uncertain significance Multiple submitters
- RHO p.Val227Ile Uncertain significance Multiple submitters
- RHO p.Val61Ile Uncertain significance Multiple submitters
- RHO p.Val63Ile Uncertain significance Multiple submitters
-
RHO p.Ala132Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RHO p.Ala168Pro Uncertain significance Single submitter
- RHO p.Ala173Val Uncertain significance Single submitter
- RHO p.Ala235Thr Uncertain significance Single submitter
- RHO p.Ala241Ser Uncertain significance Single submitter
- RHO p.Ala241Thr Uncertain significance Single submitter
- RHO p.Ala260Thr Uncertain significance Single submitter
-
RHO p.Ala269Asp
Uncertain significance
Single submitter
congenital stationary night blindness autosomal dominant 1
- RHO p.Ala298Val Uncertain significance Single submitter
- RHO p.Ala299Asp Uncertain significance Single submitter
- RHO p.Ala32Pro Uncertain significance Single submitter
- RHO p.Ala333Thr Uncertain significance Single submitter
- RHO p.Ala346Thr Uncertain significance Single submitter
- RHO p.Ala348Val Uncertain significance Single submitter
-
RHO p.Asn111Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- RHO p.Asn151Ser Uncertain significance Single submitter
- RHO p.Asn326Asp Uncertain significance Single submitter
- RHO p.Asn326Ser Uncertain significance Single submitter
- RHO p.Asn73Lys Uncertain significance Single submitter
- RHO p.Asp331Glu Uncertain significance Single submitter
- RHO p.Cys185Tyr Uncertain significance Single submitter
- RHO p.Gln225His Uncertain significance Single submitter
- RHO p.Gln237His Uncertain significance Single submitter
- RHO p.Gln237Leu Uncertain significance Single submitter
-
RHO p.Gln279Pro
Uncertain significance
Single submitter
inherited retinal dystrophy
- RHO p.Glu122Lys Uncertain significance Single submitter
- RHO p.Glu134Gly Uncertain significance Single submitter
- RHO p.Glu181Gln Uncertain significance Single submitter
- RHO p.Glu332Lys Uncertain significance Single submitter
- RHO p.Glu332Val Uncertain significance Single submitter
- RHO p.Glu33Asp Uncertain significance Single submitter
- RHO p.Gly101Arg Uncertain significance Single submitter
- RHO p.Gly156Val Uncertain significance Single submitter
- RHO p.Gly174Arg Uncertain significance Single submitter
- RHO p.Gly18Ala Uncertain significance Single submitter
- RHO p.Gly18Val Uncertain significance Single submitter
- RHO p.Gly224Arg Uncertain significance Single submitter
- RHO p.Gly224Glu Uncertain significance Single submitter
- RHO p.Gly329Asp Uncertain significance Single submitter
- RHO p.Gly6Ala Uncertain significance Single submitter
- RHO p.Gly6Cys Uncertain significance Single submitter
- RHO p.His100Pro Uncertain significance Single submitter
- RHO p.His211Tyr Uncertain significance Single submitter
- RHO p.His278Pro Uncertain significance Single submitter
- RHO p.His65Arg Uncertain significance Single submitter
- RHO p.His65Leu Uncertain significance Single submitter
- RHO p.Ile179Asn Uncertain significance Single submitter
-
RHO p.Ile205Ser
Uncertain significance
Single submitter
congenital stationary night blindness autosomal dominant 1
- RHO p.Ile205Val Uncertain significance Single submitter
- RHO p.Ile214Asn Uncertain significance Single submitter
- RHO p.Ile217Phe Uncertain significance Single submitter
- RHO p.Ile255Ser Uncertain significance Single submitter
-
RHO p.Ile286Val
Uncertain significance
Single submitter
inherited retinal dystrophy
- RHO p.Ile305Leu Uncertain significance Single submitter
- RHO p.Ile321Val Uncertain significance Single submitter
- RHO p.Leu119Val Uncertain significance Single submitter
- RHO p.Leu165Pro Uncertain significance Single submitter
- RHO p.Leu172Pro Uncertain significance Single submitter
- RHO p.Leu31Pro Uncertain significance Single submitter
- RHO p.Leu328Pro Uncertain significance Single submitter
- RHO p.Leu95Ile Uncertain significance Single submitter
-
RHO p.Leu99Pro
Uncertain significance
Single submitter
inherited retinal dystrophy
- RHO p.Lys245Glu Uncertain significance Single submitter
- RHO p.Lys325Thr Uncertain significance Single submitter
- RHO p.Met253Thr Uncertain significance Single submitter
- RHO p.Met39Val Uncertain significance Single submitter
- RHO p.Phe116Tyr Uncertain significance Single submitter
-
RHO p.Phe13Ser
Uncertain significance
Single submitter
inherited retinal dystrophy
- RHO p.Phe148Leu Uncertain significance Single submitter
- RHO p.Phe148Ser Uncertain significance Single submitter
- RHO p.Phe203Ser Uncertain significance Single submitter
- RHO p.Phe24Cys Uncertain significance Single submitter
- RHO p.Phe24Leu Uncertain significance Single submitter
-
RHO p.Phe24Ser
Uncertain significance
Single submitter
inherited retinal dystrophy
- RHO p.Pro171Thr Uncertain significance Single submitter
- RHO p.Pro267Ala Uncertain significance Single submitter
- RHO p.Pro285Ala Uncertain significance Single submitter
- RHO p.Pro285Leu Uncertain significance Single submitter
- RHO p.Pro285Thr Uncertain significance Single submitter
-
RHO p.Pro303Arg
Uncertain significance
Single submitter
retinitis pigmentosa
- RHO p.Pro303Leu Uncertain significance Single submitter
-
RHO p.Pro71Ser
Uncertain significance
Single submitter
retinitis pigmentosa 4
- RHO p.Pro7Leu Uncertain significance Single submitter
- RHO p.Ser127Tyr Uncertain significance Single submitter
-
RHO p.Ser22Arg
Uncertain significance
Single submitter
retinitis pigmentosa 4
- RHO p.Ser22Asn Uncertain significance Single submitter
- RHO p.Ser98Pro Uncertain significance Single submitter
- RHO p.Thr108Ala Uncertain significance Single submitter
- RHO p.Thr118Pro Uncertain significance Single submitter
- RHO p.Thr289Pro Uncertain significance Single submitter
- RHO p.Thr319Ile Uncertain significance Single submitter
-
RHO p.Thr320Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RHO p.Thr4Lys
Uncertain significance
Single submitter
inherited retinal dystrophy
- RHO p.Thr92Ala Uncertain significance Single submitter
- RHO p.Trp175Leu Uncertain significance Single submitter
- RHO p.Trp265Arg Uncertain significance Single submitter
- RHO p.Trp35Arg Uncertain significance Single submitter
- RHO p.Tyr102Asn Uncertain significance Single submitter
- RHO p.Tyr102Cys Uncertain significance Single submitter
- RHO p.Tyr192Cys Uncertain significance Single submitter
- RHO p.Tyr29Cys Uncertain significance Single submitter
- RHO p.Tyr29Ser Uncertain significance Single submitter
- RHO p.Tyr30Asn Uncertain significance Single submitter
- RHO p.Tyr43Cys Uncertain significance Single submitter
- RHO p.Val137Met Uncertain significance Single submitter
- RHO p.Val198Ala Uncertain significance Single submitter
- RHO p.Val204Asp Uncertain significance Single submitter
- RHO p.Val227Leu Uncertain significance Single submitter
- RHO p.Val250Ala Uncertain significance Single submitter
- RHO p.Val337Met Uncertain significance Single submitter
- RHO p.Val49Met Uncertain significance Single submitter
-
RHO p.Val61Phe
Uncertain significance
Single submitter
inherited retinal dystrophy
- RHO p.Val81Ala Uncertain significance Single submitter
- RHO p.Val81Met Uncertain significance Single submitter
Predictors split 69
The independent predictors disagree with each other — read with care.
- RHO p.Ala269Thr Uncertain significance Multiple submitters
-
RHO p.Ala292Val
Uncertain significance
Multiple submitters
retinitis pigmentosa 4
-
RHO p.Ala298Thr
Uncertain significance
Multiple submitters
fundus albipunctatus
-
RHO p.Arg147Cys
Uncertain significance
Multiple submitters
retinitis pigmentosa 4
-
RHO p.Arg252His
Uncertain significance
Multiple submitters
retinitis pigmentosa 4
- RHO p.Arg69His Uncertain significance Multiple submitters
-
RHO p.Cys167Trp
Pathogenic/Likely pathogenic
Multiple submitters
RHO-related disorder
-
RHO p.Gln184Arg
Pathogenic/Likely pathogenic
Multiple submitters
fundus albipunctatus
-
RHO p.Gln28Arg
Pathogenic/Likely pathogenic
Multiple submitters
RHO-related disorder
-
RHO p.Glu150Lys
Pathogenic/Likely pathogenic
Multiple submitters
RHO-related disorder
-
RHO p.Gly106Arg
Pathogenic/Likely pathogenic
Multiple submitters
RHO-related disorder
-
RHO p.Gly121Ser
Uncertain significance
Multiple submitters
severe early-childhood-onset retinal dystrophy
-
RHO p.Gly182Ser
Pathogenic
Multiple submitters
RHO-related disorder
-
RHO p.Ile321Asn
Uncertain significance
Multiple submitters
congenital stationary night blindness autosomal dominant 1
- RHO p.Leu59Phe Uncertain significance Multiple submitters
- RHO p.Leu77Phe Uncertain significance Multiple submitters
-
RHO p.Met39Arg
Pathogenic/Likely pathogenic
Multiple submitters
RHO-related disorder
-
RHO p.Phe220Cys
Uncertain significance
Multiple submitters
congenital stationary night blindness autosomal dominant 1
-
RHO p.Phe220Leu
Uncertain significance
Multiple submitters
optic atrophy
- RHO p.Phe261Leu Uncertain significance Multiple submitters
- RHO p.Phe276Val Uncertain significance Multiple submitters
-
RHO p.Pro23Leu
Pathogenic/Likely pathogenic
Multiple submitters
RHO-related disorder
- RHO p.Ser93Arg Uncertain significance Multiple submitters
- RHO p.Val11Met Uncertain significance Multiple submitters
- RHO p.Val20Ile Uncertain significance Multiple submitters
- RHO p.Ala173Asp Uncertain significance Single submitter
- RHO p.Ala173Pro Uncertain significance Single submitter
-
RHO p.Ala235Asp
Uncertain significance
Single submitter
retinitis pigmentosa
-
RHO p.Ala292Thr
Likely pathogenic
Single submitter
retinitis pigmentosa 4
-
RHO p.Arg21His
Conflicting
Single submitter
retinitis pigmentosa
- RHO p.Arg21Pro Uncertain significance Single submitter
- RHO p.Asn310Ser Uncertain significance Single submitter
-
RHO p.Asp331His
Uncertain significance
Single submitter
Inborn genetic diseases
-
RHO p.Cys167Tyr
Pathogenic
Single submitter
RHO-related disorder
- RHO p.Gln238His Uncertain significance Single submitter
-
RHO p.Gln28Glu
Uncertain significance
Single submitter
inherited retinal dystrophy
- RHO p.Gln28His Pathogenic Single submitter
- RHO p.Gln28Lys Uncertain significance Single submitter
-
RHO p.Glu247Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- RHO p.Glu5Ala Uncertain significance Single submitter
-
RHO p.Gly121Val
Likely pathogenic
Single submitter
retinitis pigmentosa 4
- RHO p.Gly149Arg Uncertain significance Single submitter
- RHO p.Gly284Cys Uncertain significance Single submitter
-
RHO p.Ile290Asn
Benign
Single submitter
inherited retinal dystrophy
- RHO p.Ile307Phe Conflicting Single submitter
- RHO p.Leu112Ser Uncertain significance Single submitter
- RHO p.Lys67Asn Uncertain significance Single submitter
- RHO p.Met143Lys Uncertain significance Single submitter
-
RHO p.Met163Ile
Likely pathogenic
Single submitter
retinitis pigmentosa 4
- RHO p.Met44Thr Likely pathogenic Single submitter
- RHO p.Phe146Ile Uncertain significance Single submitter
- RHO p.Phe228Ser Uncertain significance Single submitter
-
RHO p.Phe283Leu
Uncertain significance
Single submitter
retinitis pigmentosa
- RHO p.Pro12Arg Uncertain significance Single submitter
- RHO p.Pro12Ser Uncertain significance Single submitter
-
RHO p.Pro170Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RHO p.Pro23Ala
Pathogenic
Single submitter
RHO-related disorder
- RHO p.Thr160Ile Uncertain significance Single submitter
- RHO p.Thr251Ile Uncertain significance Single submitter
- RHO p.Thr4Ala Uncertain significance Single submitter
- RHO p.Thr70Lys Uncertain significance Single submitter
-
RHO p.Thr70Met
Conflicting
Single submitter
congenital stationary night blindness
- RHO p.Tyr192His Uncertain significance Single submitter
- RHO p.Tyr206Ser Uncertain significance Single submitter
- RHO p.Val20Leu Uncertain significance Single submitter
- RHO p.Val230Ile Likely benign Single submitter
- RHO p.Val266Gly Uncertain significance Single submitter
-
RHO p.Val87Asp
Likely pathogenic
Single submitter
fundus albipunctatus
-
RHO p.Ala168Val
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All RHO variants
Pathogenic 69
- c.937-1G>A Multiple submitters RHO-related disorder
- c.937-1G>T Multiple submitters inherited retinal dystrophy
- p.Ala164Glu Multiple submitters RHO-related disorder
- p.Arg135Gly Multiple submitters RHO-related disorder
- p.Arg135Leu Multiple submitters RHO-related disorder
- p.Arg135Pro Multiple submitters RHO-related disorder
- p.Arg135Trp Multiple submitters RHO-related disorder
- p.Asp190Tyr Multiple submitters RHO-related disorder
- p.Cys110Tyr Multiple submitters RHO-related disorder
- p.Cys167Arg Multiple submitters RHO-related disorder
- p.Gln344Ter Multiple submitters RHO-related disorder
- p.Gln64Ter Multiple submitters RHO-related disorder
- p.Glu113Lys Multiple submitters inherited retinal dystrophy
- p.Glu181fs Multiple submitters retinitis pigmentosa 4
- p.Gly109Arg Multiple submitters RHO-related disorder
- p.Gly114Asp Multiple submitters retinitis pigmentosa 4
- p.Gly114Val Multiple submitters RHO-related disorder
- p.Gly182Ser Multiple submitters RHO-related disorder ⚠
- p.Gly182Val Multiple submitters RHO-related disorder
- p.Gly51Arg Multiple submitters RHO-related disorder
- p.Gly51Val Multiple submitters RHO-related disorder
- p.Gly89Asp Multiple submitters RHO-related disorder
- p.Gly90Asp Multiple submitters inherited retinal dystrophy
- p.His211Arg Multiple submitters RHO-related disorder
- p.Leu125Arg Multiple submitters RHO-related disorder
- p.Leu46Arg Multiple submitters
- p.Lys296Glu Multiple submitters retinitis pigmentosa 4
- p.Lys66Ter Multiple submitters inherited retinal dystrophy
- p.Met207Arg Multiple submitters RHO-related disorder
- p.Pro171Ser Multiple submitters RHO-related disorder
- p.Pro180Ser Multiple submitters RHO-related disorder
- p.Pro23His Multiple submitters RHO-related disorder
- p.Pro267Leu Multiple submitters RHO-related disorder
- p.Pro347Ala Multiple submitters RHO-related disorder ⚠
- p.Pro347Gln Multiple submitters RHO-related disorder ⚠
- p.Pro347Ser Multiple submitters RHO-related disorder ⚠
- p.Pro53Arg Multiple submitters retinitis pigmentosa 4
- p.Ter349Gln Multiple submitters RHO-related disorder
- p.Thr17Met Multiple submitters RHO-related disorder
- p.Trp161Ter Multiple submitters retinitis pigmentosa 4
- c.531-2A>G Single submitter
- p.Ala246fs Single submitter retinitis pigmentosa 4
- p.Asn55Lys Single submitter
- p.Asn73Ser Single submitter retinitis pigmentosa
- p.Cys167Tyr Single submitter RHO-related disorder ⚠
- p.Gln28His Single submitter ⚠
- p.Gln36Ter Single submitter
- p.Glu122Ter Single submitter
- p.Glu341fs Single submitter inherited retinal dystrophy
- p.Leu128fs Single submitter
- p.Leu31Gln Single submitter
- p.Leu84Pro Single submitter
- p.Phe221fs Single submitter
- p.Pro142fs Single submitter
- p.Pro23Ala Single submitter RHO-related disorder ⚠
- p.Pro267Arg Single submitter RHO-related disorder
- p.Pro347Arg Single submitter retinitis pigmentosa 4
- p.Pro347fs Single submitter retinitis pigmentosa 4
- p.Pro347Thr Single submitter ⚠
- p.Ser186Trp Single submitter retinitis pigmentosa 4
- p.Ser297Arg Single submitter
- p.Ter349Glu Single submitter
- p.Tyr102Ter Single submitter
- p.Tyr60Ter Single submitter
- p.Val345Gly Single submitter inherited retinal dystrophy ⚠
- p.Val345Leu Single submitter retinitis pigmentosa 4 ⚠
- p.Ala292Glu No assertion criteria congenital stationary night blindness autosomal dominant 1
- p.Gln184fs No assertion criteria neuropathy, congenital hypomyelinating, 2
- p.Ile214fs No assertion criteria retinitis pigmentosa
Pathogenic/Likely pathogenic 55
- c.936+1G>T Multiple submitters RHO-related disorder
- c.937-2A>G Multiple submitters inherited retinal dystrophy
- c.937-2A>T Multiple submitters retinitis pigmentosa 4
- p.Ala164Val Multiple submitters retinitis pigmentosa 4
- p.Asn15Ser Multiple submitters RHO-related disorder ⚠
- p.Asn78_Leu79insTer Multiple submitters RHO-related disorder
- p.Asp190Asn Multiple submitters RHO-related disorder
- p.Asp190Glu Multiple submitters RHO-related disorder
- p.Asp190Gly Multiple submitters RHO-related disorder
- p.Cys110Arg Multiple submitters RHO-related disorder
- p.Cys110Phe Multiple submitters RHO-related disorder
- p.Cys167Trp Multiple submitters RHO-related disorder ⚠
- p.Cys185Arg Multiple submitters RHO-related disorder
- p.Cys187Tyr Multiple submitters RHO-related disorder
- p.Cys264del Multiple submitters retinitis pigmentosa 4
- p.Gln184Arg Multiple submitters fundus albipunctatus ⚠
- p.Gln28Arg Multiple submitters RHO-related disorder ⚠
- p.Gln312Ter Multiple submitters retinitis pigmentosa 4
- p.Glu150Lys Multiple submitters RHO-related disorder ⚠
- p.Glu181Lys Multiple submitters RHO-related disorder
- p.Glu249Ter Multiple submitters RHO-related disorder
- p.Gly106Arg Multiple submitters RHO-related disorder ⚠
- p.Gly106Trp Multiple submitters RHO-related disorder
- p.Gly120fs Multiple submitters RHO-related disorder
- p.Gly182Asp Multiple submitters
- p.Gly188Arg Multiple submitters inherited retinal dystrophy
- p.Gly188Glu Multiple submitters RHO-related disorder
- p.Leu131Pro Multiple submitters inherited retinal dystrophy
- p.Leu59His Multiple submitters RHO-related disorder
- p.Lys296Asn Multiple submitters retinitis pigmentosa 4
- p.Lys339Ter Multiple submitters RHO-related disorder
- p.Met216Arg Multiple submitters RHO-related disorder
- p.Met216Lys Multiple submitters RHO-related disorder
- p.Met39Arg Multiple submitters RHO-related disorder ⚠
- p.Pro170Arg Multiple submitters RHO-related disorder
- p.Pro171Arg Multiple submitters RHO-related disorder
- p.Pro171Gln Multiple submitters RHO-related disorder
- p.Pro171Leu Multiple submitters RHO-related disorder
- p.Pro180Ala Multiple submitters RHO-related disorder
- p.Pro180Leu Multiple submitters retinitis pigmentosa 4
- p.Pro215_Met216insTer Multiple submitters RHO-related disorder
- p.Pro215Leu Multiple submitters inherited retinal dystrophy
- p.Pro23Leu Multiple submitters RHO-related disorder ⚠
- p.Pro267Thr Multiple submitters RHO-related disorder
- p.Pro347Leu Multiple submitters RHO-related disorder ⚠
- p.Ser176Phe Multiple submitters RHO-related disorder
- p.Ser186Pro Multiple submitters RHO-related disorder
- p.Thr58Arg Multiple submitters RHO-related disorder
- p.Thr58Ter Multiple submitters RHO-related disorder
- p.Tyr136Ter Multiple submitters retinitis pigmentosa 4
- p.Tyr178Cys Multiple submitters RHO-related disorder
- p.Tyr178His Multiple submitters RHO-related disorder
- p.Val345Ala Multiple submitters RHO-related disorder ⚠
- p.Val345Met Multiple submitters inherited retinal dystrophy ⚠
- c.937-2A>C No assertion criteria
Likely pathogenic 76
- c.696+1G>C Multiple submitters
- p.Asn15Lys Multiple submitters RHO-related disorder
- p.Cys187Arg Multiple submitters RHO-related disorder
- p.Cys187Phe Multiple submitters RHO-related disorder
- p.Cys222Arg Multiple submitters retinitis pigmentosa 4
- p.Cys323Ter Multiple submitters RHO-related disorder
- p.Gly106Ala Multiple submitters RHO-related disorder
- p.Gly106Val Multiple submitters retinitis pigmentosa 4
- p.His211Pro Multiple submitters RHO-related disorder
- p.Leu88Pro Multiple submitters inherited retinal dystrophy ⚠
- p.Pro180Arg Multiple submitters RHO-related disorder
- p.Pro180Thr Multiple submitters retinitis pigmentosa 4
- p.Pro215Ala Multiple submitters retinitis pigmentosa 4
- p.Pro23Thr Multiple submitters retinitis pigmentosa 4
- p.Thr17Lys Multiple submitters RHO-related disorder
- p.Val345Glu Multiple submitters RHO-related disorder
- c.353_361+3del Single submitter retinitis pigmentosa 4
- c.361+1G>A Single submitter
- c.362-1G>T Single submitter RHO-related disorder
- c.530+1G>C Single submitter
- c.937-1G>C Single submitter
- p.Ala166Asp Single submitter RHO-related disorder
- p.Ala169Pro Single submitter
- p.Ala292Thr Single submitter retinitis pigmentosa 4 ⚠
- p.Ala335fs Single submitter inherited retinal dystrophy
- p.Ala346Pro Single submitter RHO-related disorder ⚠
- p.Arg69_Leu72del Single submitter retinitis pigmentosa 4
- p.Asn15Ile Single submitter
- p.Asn310fs Single submitter retinitis pigmentosa 4
- p.Asn326fs Single submitter retinitis pigmentosa 4
- p.Asn73del Single submitter inherited retinal dystrophy
- p.Asn78Tyr Single submitter
- p.Cys110Trp Single submitter
- p.Cys316fs Single submitter
- p.Cys316Ter Single submitter inherited retinal dystrophy
- p.Cys323fs Single submitter RHO-related disorder
- p.Gln225Ter Single submitter retinitis pigmentosa 4
- p.Gln244Ter Single submitter retinitis pigmentosa 4
- p.Gln344Pro Single submitter RHO-related disorder ⚠
- p.Glu134Lys Single submitter retinitis pigmentosa 4
- p.Gly114Arg Single submitter RHO-related disorder
- p.Gly121Val Single submitter retinitis pigmentosa 4 ⚠
- p.Gly182Glu Single submitter retinitis pigmentosa 4
- p.Gly284Asp Single submitter retinitis pigmentosa 4
- p.Gly51Asp Single submitter RHO-related disorder
- p.Leu131Arg Single submitter
- p.Leu47Arg Single submitter inherited retinal dystrophy
- p.Lys296Gln Single submitter retinitis pigmentosa 4
- p.Met163Ile Single submitter retinitis pigmentosa 4 ⚠
- p.Met44Thr Single submitter ⚠
- p.Pro180His Single submitter RHO-related disorder
- p.Pro23Arg Single submitter RHO-related disorder
- p.Pro23Ser Single submitter retinitis pigmentosa 4
- p.Pro291fs Single submitter RHO-related disorder
- p.Ser270Arg Single submitter RHO-related disorder
- p.Thr94Ile Single submitter congenital stationary night blindness autosomal dominant 1
- p.Trp161Arg Single submitter
- p.Tyr178Asn Single submitter RHO-related disorder
- p.Tyr191Asn Single submitter retinitis pigmentosa 4
- p.Tyr306Ter Single submitter inherited retinal dystrophy
- p.Val87Asp Single submitter fundus albipunctatus ⚠
- p.Val87Phe Single submitter
- p.Ala166Val No assertion criteria retinitis pigmentosa ⚠
- p.Ala346Asp No assertion criteria inherited retinal dystrophy ⚠
- p.Asp190Val No assertion criteria inherited retinal dystrophy
- p.Cys110Gly No assertion criteria retinitis pigmentosa 4
- p.Gln236Ter No assertion criteria inherited retinal dystrophy
- p.Gln344fs No assertion criteria inherited retinal dystrophy
- p.Gly89Arg No assertion criteria retinitis pigmentosa
- p.Phe9Cys No assertion criteria inherited retinal dystrophy
- p.Pro285Arg No assertion criteria inherited retinal dystrophy
- p.Pro327fs No assertion criteria retinitis pigmentosa
- p.Thr4Pro No assertion criteria inherited retinal dystrophy
- p.Trp126Gly No assertion criteria inherited retinal dystrophy
- p.Val162Asp No assertion criteria inherited retinal dystrophy
- p.Val61Asp No assertion criteria inherited retinal dystrophy
Conflicting classifications of pathogenicity 53
- c.361+10G>A Single submitter retinitis pigmentosa
- c.362-10T>C Single submitter
- c.530+5T>C Single submitter inherited retinal dystrophy
- c.696+12G>A Single submitter retinitis pigmentosa
- c.696+12G>T Single submitter
- c.696+5G>A Single submitter
- c.697-11G>A Single submitter retinitis pigmentosa
- c.*959A>G Single submitter retinitis pigmentosa
- p.Ala16= Single submitter congenital stationary night blindness autosomal dominant 1
- p.Ala333Val Single submitter ⚠
- p.Ala42Thr Single submitter inherited retinal dystrophy ⚠
- p.Arg21His Single submitter retinitis pigmentosa ⚠
- p.Arg252Pro Single submitter inherited retinal dystrophy ⚠
- p.Arg314Gln Single submitter inherited retinal dystrophy
- p.Asn15Asp Single submitter RHO-related disorder ⚠
- p.Asn78Ile Single submitter inherited retinal dystrophy ⚠
- p.Asp190His Single submitter retinitis pigmentosa ⚠
- p.Cys187Ser Single submitter inherited retinal dystrophy ⚠
- p.Cys316= Single submitter retinitis pigmentosa
- p.Gln244= Single submitter retinitis pigmentosa
- p.Gln344His Single submitter retinitis pigmentosa ⚠
- p.Glu341Lys Single submitter RHO-related disorder ⚠
- p.Gly101Glu Single submitter retinitis pigmentosa 4 ⚠
- p.Gly101Val Single submitter retinitis pigmentosa 4 ⚠
- p.Gly174Ser Single submitter inherited retinal dystrophy ⚠
- p.Gly18Asp Single submitter retinitis pigmentosa 4 ⚠
- p.Gly3Asp Single submitter RHO-related disorder ⚠
- p.Ile256del Single submitter RHO-related disorder
- p.Ile307Phe Single submitter ⚠
- p.Leu226= Single submitter
- p.Leu226Pro Single submitter ⚠
- p.Leu318_Thr319delinsPro Single submitter RHO-related disorder
- p.Leu95Pro Single submitter RHO-related disorder ⚠
- p.Lys248= Single submitter retinitis pigmentosa
- p.Met253Ile Single submitter inherited retinal dystrophy ⚠
- p.Met257_Ile259dup Single submitter
- p.Phe13fs Single submitter RHO-related disorder
- p.Pro107Ser Single submitter inherited retinal dystrophy ⚠
- p.Ser127Phe Single submitter RHO-related disorder ⚠
- p.Ser186Leu Single submitter RHO-related disorder ⚠
- p.Ser343Asn Single submitter RHO-related disorder ⚠
- p.Thr160= Single submitter retinitis pigmentosa
- p.Thr193Lys Single submitter inherited retinal dystrophy ⚠
- p.Thr193Met Single submitter inherited retinal dystrophy ⚠
- p.Thr320Asn Single submitter RHO-related disorder ⚠
- p.Thr340Met Single submitter inherited retinal dystrophy ⚠
- p.Thr342Met Single submitter congenital stationary night blindness autosomal dominant 1 ⚠
- p.Thr70Met Single submitter congenital stationary night blindness ⚠
- p.Val104Ile Single submitter inherited retinal dystrophy ⚠
- p.Val209Met Single submitter inherited retinal dystrophy ⚠
- p.Val210= Single submitter retinitis pigmentosa
- p.Val337fs Single submitter RHO-related disorder
- p.Val81del Single submitter RHO-related disorder
Benign 17
- c.696+4C>T Multiple submitters retinitis pigmentosa
- c.937-23G>A Multiple submitters
- c.-26A>G Multiple submitters retinitis pigmentosa
- c.-51G>A Multiple submitters congenital stationary night blindness autosomal dominant 1
- c.*232A>G Multiple submitters congenital stationary night blindness autosomal dominant 1
- c.*43C>A Multiple submitters retinitis pigmentosa
- c.*912A>G Multiple submitters retinitis pigmentosa
- c.*925T>C Multiple submitters retinitis pigmentosa
- c.696+15del Single submitter
- c.696+15dup Single submitter
- c.*1099G>A Single submitter retinitis pigmentosa
- c.*1278G>T Single submitter retinitis pigmentosa
- c.*1601C>T Single submitter retinitis pigmentosa
- c.*313C>T Single submitter congenital stationary night blindness autosomal dominant 1
- c.*488T>C Single submitter congenital stationary night blindness autosomal dominant 1
- p.Ile290Asn Single submitter inherited retinal dystrophy ⚠
- p.Leu59= Single submitter inherited retinal dystrophy
Benign/Likely benign 12
- c.361+12del Multiple submitters
- c.*33C>T Multiple submitters congenital stationary night blindness autosomal dominant 1
- p.Ala173= Multiple submitters congenital stationary night blindness autosomal dominant 1
- p.Ala299Ser Multiple submitters
- p.Cys323= Multiple submitters congenital stationary night blindness autosomal dominant 1
- p.Gly51Ala Multiple submitters retinitis pigmentosa
- p.Ser127= Multiple submitters congenital stationary night blindness autosomal dominant 1
- p.Ser297= Multiple submitters inherited retinal dystrophy
- p.Tyr10= Multiple submitters
- c.*1200T>C Single submitter retinitis pigmentosa
- c.*205C>T Single submitter congenital stationary night blindness autosomal dominant 1
- c.*467A>G Single submitter congenital stationary night blindness autosomal dominant 1
Likely benign 116
- c.361+9C>T Multiple submitters
- c.530+20G>A Multiple submitters
- c.696+10G>C Multiple submitters
- c.696+12G>C Multiple submitters
- c.696+9C>A Multiple submitters
- c.696+9C>T Multiple submitters
- c.697-19C>T Multiple submitters
- c.936+11C>T Multiple submitters
- c.936+17G>T Multiple submitters
- p.Ala164= Multiple submitters
- p.Ala168= Multiple submitters
- p.Ala173Thr Multiple submitters inherited retinal dystrophy
- p.Ala292= Multiple submitters
- p.Ala298= Multiple submitters
- p.Ala80= Multiple submitters
- p.Asn200= Multiple submitters
- p.Gln344= Multiple submitters
- p.His211= Multiple submitters
- p.Ile133= Multiple submitters
- p.Ile214= Multiple submitters
- p.Ile259= Multiple submitters
- p.Ile48= Multiple submitters
- p.Leu172= Multiple submitters
- p.Phe103= Multiple submitters
- p.Phe105= Multiple submitters
- p.Phe148= Multiple submitters
- p.Phe208= Multiple submitters retinitis pigmentosa
- p.Pro107= Multiple submitters
- p.Pro347= Multiple submitters
- p.Ser186= Multiple submitters
- p.Thr340= Multiple submitters
- p.Thr58= Multiple submitters Inborn genetic diseases
- p.Thr62= Multiple submitters inherited retinal dystrophy
- p.Tyr136= Multiple submitters
- p.Tyr192= Multiple submitters
- p.Tyr60= Multiple submitters
- p.Tyr96= Multiple submitters
- p.Val157Ile Multiple submitters
- c.361+11G>T Single submitter
- c.361+20G>T Single submitter
- c.362-11C>T Single submitter
- c.362-17T>G Single submitter
- c.362-20G>A Single submitter
- c.530+14G>A Single submitter
- c.530+17G>A Single submitter
- c.531-10C>T Single submitter
- c.531-16A>G Single submitter
- c.531-9T>C Single submitter
- c.696+10G>A Single submitter
- c.696+11G>T Single submitter
- c.696+14G>C Single submitter
- c.696+15G>A Single submitter
- c.696+19G>A Single submitter
- c.696+20C>T Single submitter
- c.696+7G>T Single submitter
- c.696+9C>G Single submitter
- c.697-12C>T Single submitter
- c.697-18G>A Single submitter
- c.697-19C>G Single submitter
- c.937-10T>C Single submitter
- c.937-6T>A Single submitter
- c.937-9G>A Single submitter
- c.937-9G>C Single submitter
- p.Ala233= Single submitter
- p.Ala272= Single submitter
- p.Ala41= Single submitter
- p.Arg135= Single submitter
- p.Asn282= Single submitter
- p.Asn310= Single submitter
- p.Asn326= Single submitter
- p.Asp330= Single submitter
- p.Glu122= Single submitter
- p.Glu341= Single submitter
- p.Gly106= Single submitter
- p.Gly149= Single submitter
- p.Gly182= Single submitter
- p.Gly3= Single submitter
- p.Gly89= Single submitter
- p.Leu165= Single submitter
- p.Leu79= Single submitter
- p.Leu88= Single submitter
- p.Leu95= Single submitter
- p.Lys195= Single submitter
- p.Lys231= Single submitter
- p.Lys296= Single submitter
- p.Lys311= Single submitter inherited retinal dystrophy
- p.Phe283= Single submitter
- p.Phe56= Single submitter
- p.Phe9= Single submitter
- p.Pro142= Single submitter
- p.Pro180= Single submitter
- p.Pro285= Single submitter
- p.Pro327= Single submitter
- p.Pro34= Single submitter
- p.Ser144= Single submitter
- p.Ser22= Single submitter
- p.Ser270= Single submitter
- p.Ser338= Single submitter
- p.Ser38= Single submitter
- p.Ser93= Single submitter
- p.Thr108= Single submitter
- p.Thr17= Single submitter
- p.Thr193= Single submitter
- p.Thr229= Single submitter
- p.Thr336= Single submitter
- p.Thr342= Single submitter
- p.Tyr268= Single submitter
- p.Tyr43= Single submitter
- p.Tyr74= Single submitter
- p.Val162= Single submitter
- p.Val198= Single submitter
- p.Val230Ile Single submitter ⚠
- p.Val266= Single submitter
- p.Val337= Single submitter
- p.Val61= Single submitter
- p.Val81= Single submitter
Uncertain significance 284
- c.936+12G>A Multiple submitters
- p.Ala153Asp Multiple submitters ⚠
- p.Ala153Val Multiple submitters ⚠
- p.Ala168Thr Multiple submitters
- p.Ala169Thr Multiple submitters inherited retinal dystrophy ⚠
- p.Ala16Val Multiple submitters ⚠
- p.Ala269Thr Multiple submitters ⚠
- p.Ala292Val Multiple submitters retinitis pigmentosa 4 ⚠
- p.Ala298Thr Multiple submitters fundus albipunctatus ⚠
- p.Ala299Thr Multiple submitters retinitis pigmentosa 4
- p.Arg135Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg147Cys Multiple submitters retinitis pigmentosa 4 ⚠
- p.Arg147His Multiple submitters retinitis pigmentosa ⚠
- p.Arg252Cys Multiple submitters retinitis pigmentosa 4 ⚠
- p.Arg252His Multiple submitters retinitis pigmentosa 4 ⚠
- p.Arg69Cys Multiple submitters retinitis pigmentosa ⚠
- p.Arg69His Multiple submitters ⚠
- p.Asn200del Multiple submitters inherited retinal dystrophy
- p.Asp331Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys140Ser Multiple submitters ⚠
- p.Gln236Lys Multiple submitters ⚠
- p.Gln344Glu Multiple submitters ⚠
- p.Glu25Lys Multiple submitters
- p.Glu5Gly Multiple submitters ⚠
- p.Gly121Ser Multiple submitters severe early-childhood-onset retinal dystrophy ⚠
- p.Gly284Ser Multiple submitters ⚠
- p.Gly6Ser Multiple submitters ⚠
- p.His100Arg Multiple submitters ⚠
- p.Ile214Val Multiple submitters ⚠
- p.Ile217Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile256_Ile259del Multiple submitters retinitis pigmentosa
- p.Ile275Leu Multiple submitters
- p.Ile321Asn Multiple submitters congenital stationary night blindness autosomal dominant 1 ⚠
- p.Leu59Arg Multiple submitters ⚠
- p.Leu59Phe Multiple submitters ⚠
- p.Leu59Pro Multiple submitters ⚠
- p.Leu68Arg Multiple submitters retinitis pigmentosa ⚠
- p.Leu77Phe Multiple submitters ⚠
- p.Met155Thr Multiple submitters ⚠
- p.Met309Leu Multiple submitters ⚠
- p.Phe220Cys Multiple submitters congenital stationary night blindness autosomal dominant 1 ⚠
- p.Phe220Leu Multiple submitters optic atrophy ⚠
- p.Phe261Leu Multiple submitters ⚠
- p.Phe276Val Multiple submitters ⚠
- p.Phe45Leu Multiple submitters retinitis pigmentosa 4 ⚠
- p.Phe9Leu Multiple submitters ⚠
- p.Phe9Val Multiple submitters ⚠
- p.Pro196Leu Multiple submitters
- p.Pro196Thr Multiple submitters congenital stationary night blindness autosomal dominant 1 ⚠
- p.Pro34Leu Multiple submitters ⚠
- p.Ser93Arg Multiple submitters ⚠
- p.Thr58Met Multiple submitters microcephaly 17, primary, autosomal recessive ⚠
- p.Thr62Asn Multiple submitters retinitis pigmentosa 4 ⚠
- p.Tyr136His Multiple submitters ⚠
- p.Tyr191Asp Multiple submitters retinitis pigmentosa 4 ⚠
- p.Tyr60His Multiple submitters retinitis pigmentosa 4
- p.Val11Met Multiple submitters ⚠
- p.Val20Ile Multiple submitters ⚠
- p.Val210Phe Multiple submitters ⚠
- p.Val227Ile Multiple submitters ⚠
- p.Val271Met Multiple submitters
- p.Val61Ile Multiple submitters ⚠
- p.Val63Ile Multiple submitters ⚠
- c.361+5G>A Single submitter
- c.362-11_362-10delinsAA Single submitter
- c.696+5G>C Single submitter
- c.697-3C>A Single submitter
- c.937-10T>A Single submitter
- c.937-27_937-19del Single submitter
- c.-24G>T Single submitter retinitis pigmentosa
- c.*1144C>T Single submitter retinitis pigmentosa
- c.*115G>A Single submitter congenital stationary night blindness autosomal dominant 1
- c.*1179T>C Single submitter retinitis pigmentosa
- c.*1255T>C Single submitter retinitis pigmentosa
- c.*1294A>G Single submitter congenital stationary night blindness autosomal dominant 1
- c.*139_*140del Single submitter
- c.*1454G>A Single submitter retinitis pigmentosa
- c.*1455T>C Single submitter congenital stationary night blindness autosomal dominant 1
- c.*1599G>A Single submitter congenital stationary night blindness autosomal dominant 1
- c.*224C>T Single submitter congenital stationary night blindness autosomal dominant 1
- c.*26C>T Single submitter retinitis pigmentosa
- c.*276C>T Single submitter congenital stationary night blindness autosomal dominant 1
- c.*285G>A Single submitter retinitis pigmentosa
- c.*406G>C Single submitter retinitis pigmentosa
- c.*40C>T Single submitter congenital stationary night blindness autosomal dominant 1
- c.*440C>G Single submitter congenital stationary night blindness autosomal dominant 1
- c.*542G>A Single submitter retinitis pigmentosa
- c.*551G>A Single submitter retinitis pigmentosa
- c.*573C>T Single submitter retinitis pigmentosa
- c.*633G>A Single submitter congenital stationary night blindness autosomal dominant 1
- c.*645G>C Single submitter congenital stationary night blindness autosomal dominant 1
- c.*670A>C Single submitter retinitis pigmentosa
- c.*679A>G Single submitter retinitis pigmentosa
- c.*741T>C Single submitter congenital stationary night blindness autosomal dominant 1
- c.*815G>T Single submitter retinitis pigmentosa
- c.*838A>T Single submitter congenital stationary night blindness autosomal dominant 1
- c.*887G>C Single submitter retinitis pigmentosa
- c.*948T>C Single submitter retinitis pigmentosa
- c.*970C>T Single submitter retinitis pigmentosa
- p.Ala132Thr Single submitter Inborn genetic diseases ⚠
- p.Ala168Pro Single submitter ⚠
- p.Ala173Asp Single submitter ⚠
- p.Ala173Pro Single submitter ⚠
- p.Ala173Val Single submitter ⚠
- p.Ala234Thr Single submitter
- p.Ala235Asp Single submitter retinitis pigmentosa ⚠
- p.Ala235Thr Single submitter ⚠
- p.Ala241Ser Single submitter ⚠
- p.Ala241Thr Single submitter ⚠
- p.Ala260_Ile263del Single submitter retinitis pigmentosa 4
- p.Ala260fs Single submitter
- p.Ala260Thr Single submitter ⚠
- p.Ala269Asp Single submitter congenital stationary night blindness autosomal dominant 1 ⚠
- p.Ala298Val Single submitter ⚠
- p.Ala299Asp Single submitter ⚠
- p.Ala32Pro Single submitter ⚠
- p.Ala333fs Single submitter retinitis pigmentosa 4
- p.Ala333Thr Single submitter ⚠
- p.Ala346Thr Single submitter ⚠
- p.Ala348Val Single submitter ⚠
- p.Ala41Thr Single submitter
- p.Ala80Ser Single submitter
- p.Arg21Pro Single submitter ⚠
- p.Asn111Asp Single submitter Inborn genetic diseases ⚠
- p.Asn151Ser Single submitter ⚠
- p.Asn310Ser Single submitter ⚠
- p.Asn326Asp Single submitter ⚠
- p.Asn326Ser Single submitter ⚠
- p.Asn73Lys Single submitter ⚠
- p.Asp331Glu Single submitter ⚠
- p.Asp331His Single submitter Inborn genetic diseases ⚠
- p.Cys185Tyr Single submitter ⚠
- p.Gln225His Single submitter ⚠
- p.Gln236fs Single submitter Leber congenital amaurosis
- p.Gln237His Single submitter ⚠
- p.Gln237Leu Single submitter ⚠
- p.Gln238His Single submitter ⚠
- p.Gln279Pro Single submitter inherited retinal dystrophy ⚠
- p.Gln28Glu Single submitter inherited retinal dystrophy ⚠
- p.Gln28Lys Single submitter ⚠
- p.Glu122Lys Single submitter ⚠
- p.Glu134Gly Single submitter ⚠
- p.Glu150Asp Single submitter
- p.Glu181Gln Single submitter ⚠
- p.Glu247Lys Single submitter Inborn genetic diseases ⚠
- p.Glu332fs Single submitter
- p.Glu332Lys Single submitter ⚠
- p.Glu332Val Single submitter ⚠
- p.Glu33Asp Single submitter ⚠
- p.Glu5Ala Single submitter ⚠
- p.Gly101Arg Single submitter ⚠
- p.Gly120= Single submitter
- p.Gly149Arg Single submitter ⚠
- p.Gly156Ala Single submitter
- p.Gly156Val Single submitter ⚠
- p.Gly174Arg Single submitter ⚠
- p.Gly18Ala Single submitter ⚠
- p.Gly18Val Single submitter ⚠
- p.Gly224Arg Single submitter ⚠
- p.Gly224Glu Single submitter ⚠
- p.Gly284Cys Single submitter ⚠
- p.Gly329Asp Single submitter ⚠
- p.Gly6Ala Single submitter ⚠
- p.Gly6Cys Single submitter ⚠
- p.His100Pro Single submitter ⚠
- p.His211Tyr Single submitter ⚠
- p.His278Pro Single submitter ⚠
- p.His65_Leu68del Single submitter congenital stationary night blindness autosomal dominant 1
- p.His65Arg Single submitter ⚠
- p.His65Leu Single submitter ⚠
- p.Ile179Asn Single submitter ⚠
- p.Ile205Ser Single submitter congenital stationary night blindness autosomal dominant 1 ⚠
- p.Ile205Val Single submitter ⚠
- p.Ile214Asn Single submitter ⚠
- p.Ile217Phe Single submitter ⚠
- p.Ile255Ser Single submitter ⚠
- p.Ile286Val Single submitter inherited retinal dystrophy ⚠
- p.Ile305Leu Single submitter ⚠
- p.Ile321Val Single submitter ⚠
- p.Ile75Val Single submitter
- p.Leu112Ser Single submitter ⚠
- p.Leu119= Single submitter
- p.Leu119Val Single submitter ⚠
- p.Leu165Pro Single submitter ⚠
- p.Leu172Phe Single submitter
- p.Leu172Pro Single submitter ⚠
- p.Leu31Pro Single submitter ⚠
- p.Leu328Pro Single submitter ⚠
- p.Leu76= Single submitter inherited retinal dystrophy
- p.Leu95Ile Single submitter ⚠
- p.Leu99Pro Single submitter inherited retinal dystrophy ⚠
- p.Lys245Glu Single submitter ⚠
- p.Lys325Thr Single submitter ⚠
- p.Lys67Asn Single submitter ⚠
- p.Met143Lys Single submitter ⚠
- p.Met1Val Single submitter
- p.Met253Thr Single submitter ⚠
- p.Met288_Thr289del Single submitter
- p.Met39Val Single submitter ⚠
- p.Met44Leu Single submitter
- p.Met44Val Single submitter inherited retinal dystrophy
- p.Phe116del Single submitter
- p.Phe116Tyr Single submitter ⚠
- p.Phe13Ser Single submitter inherited retinal dystrophy ⚠
- p.Phe146Ile Single submitter ⚠
- p.Phe148Leu Single submitter ⚠
- p.Phe148Ser Single submitter ⚠
- p.Phe203Ser Single submitter ⚠
- p.Phe228Ser Single submitter ⚠
- p.Phe24Cys Single submitter ⚠
- p.Phe24Leu Single submitter ⚠
- p.Phe24Ser Single submitter inherited retinal dystrophy ⚠
- p.Phe283Leu Single submitter retinitis pigmentosa ⚠
- p.Phe85Val Single submitter
- p.Phe91= Single submitter inherited retinal dystrophy
- p.Phe9Ser Single submitter
- p.Pro12Arg Single submitter ⚠
- p.Pro12Ser Single submitter ⚠
- p.Pro170Thr Single submitter Inborn genetic diseases ⚠
- p.Pro171Thr Single submitter ⚠
- p.Pro267Ala Single submitter ⚠
- p.Pro285Ala Single submitter ⚠
- p.Pro285Leu Single submitter ⚠
- p.Pro285Thr Single submitter ⚠
- p.Pro303Arg Single submitter retinitis pigmentosa ⚠
- p.Pro303Leu Single submitter ⚠
- p.Pro71Ser Single submitter retinitis pigmentosa 4 ⚠
- p.Pro7Leu Single submitter ⚠
- p.Ser127Tyr Single submitter ⚠
- p.Ser22Arg Single submitter retinitis pigmentosa 4 ⚠
- p.Ser22Asn Single submitter ⚠
- p.Ser334fs Single submitter
- p.Ser338fs Single submitter
- p.Ser98Pro Single submitter ⚠
- p.Thr108Ala Single submitter ⚠
- p.Thr118Pro Single submitter ⚠
- p.Thr160Ile Single submitter ⚠
- p.Thr251Ile Single submitter ⚠
- p.Thr277= Single submitter
- p.Thr289Pro Single submitter ⚠
- p.Thr319Ile Single submitter ⚠
- p.Thr320Ser Single submitter Inborn genetic diseases ⚠
- p.Thr4Ala Single submitter ⚠
- p.Thr4Lys Single submitter inherited retinal dystrophy ⚠
- p.Thr70Lys Single submitter ⚠
- p.Thr92Ala Single submitter ⚠
- p.Thr94= Single submitter inherited retinal dystrophy
- p.Trp175Leu Single submitter ⚠
- p.Trp265Arg Single submitter ⚠
- p.Trp35Arg Single submitter ⚠
- p.Tyr102Asn Single submitter ⚠
- p.Tyr102Cys Single submitter ⚠
- p.Tyr192Cys Single submitter ⚠
- p.Tyr192His Single submitter ⚠
- p.Tyr206Ser Single submitter ⚠
- p.Tyr29= Single submitter retinitis pigmentosa
- p.Tyr29Cys Single submitter ⚠
- p.Tyr29Ser Single submitter ⚠
- p.Tyr30Asn Single submitter ⚠
- p.Tyr43Cys Single submitter ⚠
- p.Val104_Phe105del Single submitter
- p.Val137Met Single submitter ⚠
- p.Val198Ala Single submitter ⚠
- p.Val204Asp Single submitter ⚠
- p.Val20Leu Single submitter ⚠
- p.Val227= Single submitter inherited retinal dystrophy
- p.Val227Leu Single submitter ⚠
- p.Val250Ala Single submitter ⚠
- p.Val254dup Single submitter
- p.Val266Gly Single submitter ⚠
- p.Val337Met Single submitter ⚠
- p.Val49Met Single submitter ⚠
- p.Val61Phe Single submitter inherited retinal dystrophy ⚠
- p.Val81Ala Single submitter ⚠
- p.Val81Met Single submitter ⚠
- p.Ala168Val No assertion criteria inherited retinal dystrophy ⚠
- p.Arg21Cys No assertion criteria retinitis pigmentosa 4 ⚠
- p.Asn73_Tyr74delinsLysTyrIleLeuLeuAsnHis No assertion criteria inherited retinal dystrophy
- p.Cys323Phe No assertion criteria inherited retinal dystrophy
- p.Gln238Arg No assertion criteria inherited retinal dystrophy ⚠
- p.Glu25Ala No assertion criteria retinitis pigmentosa 4 ⚠
- p.Ile305Val No assertion criteria retinitis pigmentosa 4 ⚠
- p.Ser176Cys No assertion criteria inherited retinal dystrophy ⚠
- p.Val198_Phe203delinsArg No assertion criteria retinitis pigmentosa 4