PRPH2 — 823 ClinVar variants
All ClinVar germline PRPH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
173 Pathogenic · 69 Pathogenic/Likely pathogenic · 94 Likely pathogenic · 76 Conflicting · 37 Benign · 10 Benign/Likely benign · 90 Likely benign · 274 Uncertain significance
Full PRPH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll PRPH2 variants
Pathogenic 173
- c.581+1G>A Multiple submitters inherited retinal dystrophy
- c.582-1G>C Multiple submitters vitelliform macular dystrophy 2
- c.582-2A>T Multiple submitters inherited retinal dystrophy
- c.828+1G>A Multiple submitters PRPH2-related disorder
- c.828+1G>T Multiple submitters PRPH2-related disorder
- c.828+3A>T Multiple submitters PRPH2-related disorder
- c.829-4C>G Multiple submitters patterned macular dystrophy 1
- p.Arg172fs Multiple submitters vitelliform macular dystrophy 3
- p.Arg195Leu Multiple submitters PRPH2-related disorder
- p.Asn244Lys Multiple submitters PRPH2-related disorder
- p.Asp157fs Multiple submitters multifocal pattern dystrophy simulating fundus flavimaculatus
- p.Asp87fs Multiple submitters PRPH2-related disorder
- p.Cys165Arg Multiple submitters PRPH2-related disorder
- p.Cys166Ter Multiple submitters PRPH2-related disorder
- p.Cys213Trp Multiple submitters patterned dystrophy of the retinal pigment epithelium
- p.Gln132fs Multiple submitters PRPH2-related disorder
- p.Gln226Ter Multiple submitters PRPH2-related disorder
- p.Gln239Ter Multiple submitters PRPH2-related disorder
- p.Glu191Ter Multiple submitters PRPH2-related disorder
- p.Gly124fs Multiple submitters inherited retinal dystrophy
- p.Gly305fs Multiple submitters retinitis pigmentosa 7
- p.Gly38fs Multiple submitters PRPH2-related disorder
- p.Ile104fs Multiple submitters patterned dystrophy of the retinal pigment epithelium
- p.Ile33fs Multiple submitters PRPH2-related disorder
- p.Leu290fs Multiple submitters PRPH2-related disorder
- p.Leu307fs Multiple submitters PRPH2-related disorder
- p.Lys154del Multiple submitters PRPH2-related disorder
- p.Lys154fs Multiple submitters PRPH2-related disorder
- p.Lys193fs Multiple submitters PRPH2-related disorder
- p.Met1Leu Multiple submitters PRPH2-related disorder
- p.Met23fs Multiple submitters PRPH2-related disorder
- p.Pro210Ala Multiple submitters PRPH2-related disorder
- p.Pro216Leu Multiple submitters patterned dystrophy of the retinal pigment epithelium
- p.Pro96fs Multiple submitters PRPH2-related disorder
- p.Ser301fs Multiple submitters PRPH2-related disorder
- p.Ser55fs Multiple submitters Stargardt disease
- p.Ser76Ter Multiple submitters PRPH2-related disorder
- p.Trp316fs Multiple submitters inherited retinal dystrophy
- p.Tyr141Ter Multiple submitters inherited retinal dystrophy
- p.Tyr204Ter Multiple submitters inherited retinal dystrophy
- p.Tyr236Ter Multiple submitters PRPH2-related disorder
- c.(581+1_582-1 Single submitter inherited retinal dystrophy
- c.581+1G>C Single submitter PRPH2-related disorder
- c.582-2A>G Single submitter PRPH2-related disorder
- c.810_828+9del Single submitter PRPH2-related disorder
- c.824_828+3delinsCATTTGGGCTCCTCATTTGG Single submitter vitelliform macular dystrophy 3
- p.Ala232Glu Single submitter PRPH2-related disorder
- p.Ala30fs Single submitter PRPH2-related disorder
- p.Ala89fs Single submitter PRPH2-related disorder
- p.Arg142fs Single submitter patterned macular dystrophy 1
- p.Arg195fs Single submitter PRPH2-related disorder
- p.Arg203fs Single submitter PRPH2-related disorder
- p.Arg251fs Single submitter PRPH2-related disorder
- p.Arg48fs Single submitter PRPH2-related disorder
- p.Arg93Ter Single submitter PRPH2-related disorder
- p.Asn229fs Single submitter cone dystrophy
- p.Asn244His Single submitter inherited retinal dystrophy
- p.Asp173fs Single submitter PRPH2-related disorder
- p.Asp173Val Single submitter PRPH2-related disorder
- p.Asp207fs Single submitter PRPH2-related disorder
- p.Asp237fs Single submitter PRPH2-related disorder
- p.Cys119del Single submitter PRPH2-related disorder
- p.Cys150Ter Single submitter PRPH2-related disorder
- p.Cys165Tyr Single submitter PRPH2-related disorder
- p.Cys213Arg Single submitter PRPH2-related disorder
- p.Cys214_Ser217del Single submitter PRPH2-related disorder
- p.Cys214Tyr Single submitter PRPH2-related disorder
- p.Cys222Ter Single submitter PRPH2-related disorder
- p.Cys250Gly Single submitter inherited retinal dystrophy
- p.Cys250Ter Single submitter PRPH2-related disorder
- p.Cys250Tyr Single submitter inherited retinal dystrophy
- p.Gln10Ter Single submitter PRPH2-related disorder
- p.Gln132Ter Single submitter PRPH2-related disorder
- p.Gln178fs Single submitter PRPH2-related disorder
- p.Gln178Ter Single submitter PRPH2-related disorder
- p.Gln18fs Single submitter PRPH2-related disorder
- p.Gln224Ter Single submitter PRPH2-related disorder
- p.Gln287fs Single submitter PRPH2-related disorder
- p.Gln287Ter Single submitter choroidal dystrophy, central areolar 2
- p.Gln331fs Single submitter PRPH2-related disorder
- p.Gln331Ter Single submitter PRPH2-related disorder
- p.Glu162Ter Single submitter PRPH2-related disorder
- p.Glu241Ter Single submitter PRPH2-related disorder
- p.Glu276Ter Single submitter PRPH2-related disorder
- p.Glu300Ter Single submitter PRPH2-related disorder
- p.Glu314fs Single submitter PRPH2-related disorder
- p.Gly137_Met138insTer Single submitter
- p.Gly137Arg Single submitter inherited retinal dystrophy
- p.Gly148fs Single submitter PRPH2-related disorder
- p.Gly170fs Single submitter PRPH2-related disorder
- p.Gly208fs Single submitter PRPH2-related disorder
- p.Gly249fs Single submitter PRPH2-related disorder
- p.Gly31fs Single submitter PRPH2-related disorder
- p.Ile111fs Single submitter PRPH2-related disorder
- p.Ile156fs Single submitter PRPH2-related disorder
- p.Leu126Pro Single submitter PRPH2-related disorder
- p.Leu254fs Single submitter inherited retinal dystrophy
- p.Leu271_Leu274del Single submitter PRPH2-related disorder
- p.Leu271fs Single submitter PRPH2-related disorder
- p.Leu308fs Single submitter PRPH2-related disorder
- p.Leu77fs Single submitter PRPH2-related disorder
- p.Lys153Ter Single submitter PRPH2-related disorder
- p.Lys80fs Single submitter PRPH2-related disorder
- p.Lys80Ter Single submitter PRPH2-related disorder
- p.Lys90fs Single submitter PRPH2-related disorder
- p.Met138fs Single submitter PRPH2-related disorder
- p.Met1Arg Single submitter fundus albipunctatus
- p.Met1Ile Single submitter PRPH2-related disorder
- p.Met1Lys Single submitter PRPH2-related disorder
- p.Met265_Val268del Single submitter PRPH2-related disorder
- p.Met67_Gly68delinsArgHisArg Single submitter PRPH2-related disorder
- p.Phe120fs Single submitter inherited retinal dystrophy
- p.Phe319fs Single submitter PRPH2-related disorder
- p.Phe40_Leu41insTer Single submitter PRPH2-related disorder
- p.Phe74fs Single submitter PRPH2-related disorder
- p.Pro219fs Single submitter PRPH2-related disorder
- p.Pro313fs Single submitter PRPH2-related disorder
- p.Ser212Arg Single submitter PRPH2-related disorder
- p.Ser218Pro Single submitter PRPH2-related disorder
- p.Ser289fs Single submitter patterned macular dystrophy 1
- p.Thr240fs Single submitter PRPH2-related disorder
- p.Thr315_Trp316insTer Single submitter PRPH2-related disorder
- p.Trp174Arg Single submitter PRPH2-related disorder
- p.Trp179Ter Single submitter PRPH2-related disorder
- p.Trp21Ter Single submitter PRPH2-related disorder
- p.Trp246fs Single submitter
- p.Trp246Ter Single submitter patterned macular dystrophy 1
- p.Trp25fs Single submitter inherited retinal dystrophy
- p.Trp25Ter Single submitter PRPH2-related disorder
- p.Trp94Ter Single submitter inherited retinal dystrophy
- p.Tyr101fs Single submitter PRPH2-related disorder
- p.Tyr101Ter Single submitter PRPH2-related disorder
- p.Tyr184Ter Single submitter PRPH2-related disorder
- p.Tyr225Ter Single submitter PRPH2-related disorder
- p.Tyr234fs Single submitter PRPH2-related disorder
- p.Tyr234Ter Single submitter PRPH2-related disorder
- p.Tyr236fs Single submitter PRPH2-related disorder
- p.Tyr257_Tyr258delinsTer Single submitter PRPH2-related disorder
- p.Tyr258_Ser259delinsTer Single submitter PRPH2-related disorder
- p.Tyr258fs Single submitter PRPH2-related disorder
- p.Tyr258Ter Single submitter PRPH2-related disorder
- p.Tyr285Ter Single submitter PRPH2-related disorder
- p.Tyr83Ter Single submitter PRPH2-related disorder
- p.Tyr91Ter Single submitter choroidal dystrophy, central areolar 2
- p.Val14fs Single submitter PRPH2-related disorder
- p.Val200_Asp201insGlyProSerProValSerLeuSerLeuSerArgLeuProLeuProLeuProSerProSerProAlaProGluThrHisThrArgSerLeuIleGlnLeuProXaaXaaXaaXaaLysLysLysLysLysLysLysSerAsnVal Single submitter PRPH2-related disorder
- p.Val312fs Single submitter PRPH2-related disorder
- p.Val332fs Single submitter PRPH2-related disorder
- p.Val60fs Single submitter PRPH2-related disorder
- p.Val69fs Single submitter PRPH2-related disorder
- p.Ala78fs No assertion criteria
- p.Arg172= No assertion criteria
- p.Arg220fs No assertion criteria
- p.Arg248fs No assertion criteria
- p.Asn182fs No assertion criteria choroidal dystrophy, central areolar 2
- p.Asp145fs No assertion criteria
- p.Cys214Ser No assertion criteria
- p.Cys250_Tyr257delinsSerTer No assertion criteria
- p.Cys72fs No assertion criteria inherited retinal dystrophy
- p.Gly305_Leu308delinsVal No assertion criteria
- p.Ile65fs No assertion criteria inherited retinal dystrophy
- p.Leu274_Phe275insTer No assertion criteria
- p.Leu45fs No assertion criteria inherited retinal dystrophy
- p.Pro216fs No assertion criteria inherited retinal dystrophy
- p.Ser198Arg No assertion criteria
- p.Ser71fs No assertion criteria
- p.Thr129fs No assertion criteria
- p.Trp316Ter No assertion criteria vitelliform macular dystrophy 3
- p.Tyr141fs No assertion criteria patterned macular dystrophy 1
- p.Val106fs No assertion criteria adult-onset foveomacular vitelliform dystrophy
- p.Val200Gly No assertion criteria
- p.Val206_Val209del No assertion criteria
- p.Val209fs No assertion criteria
Pathogenic/Likely pathogenic 69
- c.582-1G>A Multiple submitters PRPH2-related disorder
- c.828+2T>C Multiple submitters PRPH2-related disorder
- p.Arg142Trp Multiple submitters PRPH2-related disorder
- p.Arg172Gln Multiple submitters vitelliform macular dystrophy 3
- p.Arg172Trp Multiple submitters patterned dystrophy of the retinal pigment epithelium
- p.Arg195Gln Multiple submitters cone-rod dystrophy
- p.Arg195Ter Multiple submitters patterned macular dystrophy 1
- p.Arg203_Gly208del Multiple submitters patterned macular dystrophy 1
- p.Arg220Gln Multiple submitters PRPH2-related disorder
- p.Arg220Pro Multiple submitters patterned dystrophy of the retinal pigment epithelium
- p.Arg46Ter Multiple submitters PRPH2-related disorder
- p.Asn136fs Multiple submitters PRPH2-related disorder
- p.Asn199fs Multiple submitters patterned dystrophy of the retinal pigment epithelium
- p.Asn215His Multiple submitters PRPH2-related disorder
- p.Asn215Tyr Multiple submitters PRPH2-related disorder
- p.Asp157Asn Multiple submitters PRPH2-related disorder
- p.Asp173Ala Multiple submitters PRPH2-related disorder
- p.Asp186Asn Multiple submitters PRPH2-related disorder
- p.Asp50fs Multiple submitters PRPH2-related disorder
- p.Cys213Phe Multiple submitters PRPH2-related disorder
- p.Cys213Ser Multiple submitters PRPH2-related disorder
- p.Cys213Tyr Multiple submitters PRPH2-related disorder
- p.Cys214Ter Multiple submitters PRPH2-related disorder
- p.Cys222Arg Multiple submitters inherited retinal dystrophy
- p.Cys250Phe Multiple submitters PRPH2-related disorder
- p.Cys82Ter Multiple submitters Stargardt disease
- p.Glu302Ter Multiple submitters vitelliform macular dystrophy 3
- p.Gly137Asp Multiple submitters PRPH2-related disorder
- p.Gly167Asp Multiple submitters PRPH2-related disorder
- p.Gly167Ser Multiple submitters PRPH2-related disorder
- p.Gly202Glu Multiple submitters PRPH2-related disorder
- p.Gly266Asp Multiple submitters PRPH2-related disorder
- p.Leu107fs Multiple submitters patterned dystrophy of the retinal pigment epithelium
- p.Leu130Pro Multiple submitters PRPH2-related disorder
- p.Leu185Pro Multiple submitters patterned dystrophy of the retinal pigment epithelium
- p.Leu254Gln Multiple submitters patterned dystrophy of the retinal pigment epithelium
- p.Lys153Arg Multiple submitters PRPH2-related disorder
- p.Lys197Glu Multiple submitters PRPH2-related disorder
- p.Met1Thr Multiple submitters PRPH2-related disorder
- p.Phe211fs Multiple submitters PRPH2-related disorder
- p.Phe211Leu Multiple submitters inherited retinal dystrophy
- p.Pro210Arg Multiple submitters patterned dystrophy of the retinal pigment epithelium
- p.Pro210Leu Multiple submitters PRPH2-related disorder
- p.Pro210Ser Multiple submitters PRPH2-related disorder
- p.Pro216Ala Multiple submitters PRPH2-related disorder
- p.Pro216Arg Multiple submitters inherited retinal dystrophy
- p.Pro216Ser Multiple submitters PRPH2-related disorder
- p.Pro221Leu Multiple submitters inherited retinal dystrophy
- p.Ser212Asn Multiple submitters PRPH2-related disorder
- p.Ser212Gly Multiple submitters PRPH2-related disorder
- p.Ser212Thr Multiple submitters PRPH2-related disorder
- p.Ser218Ter Multiple submitters patterned dystrophy of the retinal pigment epithelium
- p.Ser231Ter Multiple submitters retinitis pigmentosa 7
- p.Ser322fs Multiple submitters PRPH2-related disorder
- p.Trp174Ter Multiple submitters PRPH2-related disorder
- p.Trp179Arg Multiple submitters PRPH2-related disorder
- p.Trp179Cys Multiple submitters patterned dystrophy of the retinal pigment epithelium
- p.Trp246Cys Multiple submitters retinitis pigmentosa 7
- p.Trp97fs Multiple submitters PRPH2-related disorder
- p.Trp97Ter Multiple submitters PRPH2-related disorder
- p.Tyr141Cys Multiple submitters retinitis pigmentosa
- p.Tyr141His Multiple submitters PRPH2-related disorder
- p.Tyr204fs Multiple submitters patterned macular dystrophy 1
- p.Tyr257Ter Multiple submitters PRPH2-related disorder
- p.Val209Asp Multiple submitters PRPH2-related disorder
- p.Val73fs Multiple submitters PRPH2-related disorder
- p.Arg93fs No assertion criteria Macular dystrophy
- p.Leu270fs No assertion criteria Macular dystrophy
- p.Val209Phe No assertion criteria Macular dystrophy
Likely pathogenic 94
- p.Asp173Gly Multiple submitters PRPH2-related disorder
- p.Cys214Arg Multiple submitters PRPH2-related disorder
- p.Cys214Gly Multiple submitters PRPH2-related disorder
- p.Ile196Asn Multiple submitters cone-rod dystrophy
- p.Trp174Cys Multiple submitters PRPH2-related disorder
- p.Trp179Gly Multiple submitters fundus albipunctatus
- p.Trp246Arg Multiple submitters vitelliform macular dystrophy 3
- p.Val209Ile Multiple submitters retinitis pigmentosa 7
- c.581+2T>A Single submitter PRPH2-related disorder
- c.829-3_829-1del Single submitter inherited retinal dystrophy
- p.Arg172Pro Single submitter
- p.Arg203Pro Single submitter PRPH2-related disorder
- p.Arg310fs Single submitter PRPH2-related disorder
- p.Asn169del Single submitter PRPH2-related disorder
- p.Asn199Asp Single submitter PRPH2-related disorder
- p.Asn215fs Single submitter PRPH2-related disorder
- p.Asn215Thr Single submitter inherited retinal dystrophy
- p.Asn244Ser Single submitter PRPH2-related disorder
- p.Asp157Gly Single submitter PRPH2-related disorder
- p.Asp157His Single submitter PRPH2-related disorder
- p.Asp157Tyr Single submitter inherited retinal dystrophy
- p.Asp173Asn Single submitter PRPH2-related disorder
- p.Cys119Tyr Single submitter PRPH2-associated retinal disease
- p.Cys165Trp Single submitter PRPH2-related disorder
- p.Cys213Gly Single submitter PRPH2-related disorder
- p.Cys222Phe Single submitter PRPH2-related disorder
- p.Cys250Arg Single submitter inherited retinal dystrophy
- p.Cys250Ser Single submitter PRPH2-related disorder
- p.Cys82fs Single submitter adult-onset foveomacular vitelliform dystrophy
- p.Gln160Pro Single submitter PRPH2-related disorder
- p.Gln160Ter Single submitter Stargardt disease
- p.Gln18Ter Single submitter PRPH2-related disorder
- p.Gln304fs Single submitter retinitis pigmentosa 7
- p.Gln304Ter Single submitter PRPH2-related disorder
- p.Glu191fs Single submitter PRPH2-related disorder
- p.Glu276= Single submitter PRPH2-related disorder
- p.Glu309fs Single submitter patterned macular dystrophy 1
- p.Gly167Val Single submitter PRPH2-related disorder
- p.Gly202Trp Single submitter PRPH2-related disorder
- p.Gly208Cys Single submitter PRPH2-related disorder
- p.Gly208Ser Single submitter PRPH2-related disorder
- p.His58fs Single submitter
- p.Ile177Ser Single submitter vitelliform macular dystrophy 3
- p.Ile223Asn Single submitter PRPH2-related disorder
- p.Leu126_Glu127delinsTer Single submitter PRPH2-related disorder
- p.Leu130Arg Single submitter PRPH2-related disorder
- p.Leu245fs Single submitter PRPH2-related disorder
- p.Lys11Ter Single submitter PRPH2-related disorder
- p.Lys197fs Single submitter Stargardt disease
- p.Lys5fs Single submitter PRPH2-related disorder
- p.Met265fs Single submitter fundus albipunctatus
- p.Phe163fs Single submitter PRPH2-related disorder
- p.Phe171Cys Single submitter retinitis pigmentosa 7
- p.Pro147fs Single submitter PRPH2-related disorder
- p.Pro210His Single submitter PRPH2-related disorder
- p.Pro219Ala Single submitter
- p.Pro219del Single submitter retinitis pigmentosa 7
- p.Pro221_Cys222del Single submitter PRPH2-related disorder
- p.Pro221Ala Single submitter PRPH2-related disorder
- p.Pro221Arg Single submitter PRPH2-related disorder
- p.Ser125fs Single submitter patterned macular dystrophy 1
- p.Ser188fs Single submitter PRPH2-related disorder
- p.Ser212Cys Single submitter PRPH2-related disorder
- p.Ser217fs Single submitter patterned macular dystrophy 1
- p.Ser235fs Single submitter PRPH2-related disorder
- p.Ser256fs Single submitter PRPH2-related disorder
- p.Ser63Ter Single submitter PRPH2-related disorder
- p.Ser76fs Single submitter PRPH2-related disorder
- p.Trp174Gly Single submitter PRPH2-related disorder
- p.Trp179Leu Single submitter PRPH2-related disorder
- p.Trp246Ser Single submitter PRPH2-related disorder
- p.Trp306Ter Single submitter patterned dystrophy of the retinal pigment epithelium
- p.Tyr140Cys Single submitter PRPH2-related disorder
- p.Tyr141Asp Single submitter PRPH2-related disorder
- p.Tyr141Ser Single submitter patterned macular dystrophy 1
- p.Val200Ala Single submitter PRPH2-related disorder
- p.Ala2Ser No assertion criteria
- p.Arg13Gln No assertion criteria
- p.Arg172Gly No assertion criteria
- p.Arg220_Pro221del No assertion criteria
- p.Arg284His No assertion criteria inherited retinal dystrophy
- p.Asn244fs No assertion criteria
- p.Asp207_Val209del No assertion criteria
- p.Asp237_Thr240del No assertion criteria
- p.Glu241Gln No assertion criteria inherited retinal dystrophy
- p.Gly148Cys No assertion criteria inherited retinal dystrophy
- p.Gly38Ter No assertion criteria
- p.Gly68Arg No assertion criteria
- p.Ile223Thr No assertion criteria adult-onset foveomacular vitelliform dystrophy
- p.Leu126Arg No assertion criteria
- p.Lys139del No assertion criteria
- p.Lys153Gln No assertion criteria inherited retinal dystrophy
- p.Met265Arg No assertion criteria patterned macular dystrophy 1
- p.Val200Glu No assertion criteria
Conflicting classifications of pathogenicity 76
- c.581+15G>A Single submitter PRPH2-related disorder
- c.581+5G>A Single submitter PRPH2-related disorder
- c.828+5G>A Single submitter PRPH2-related disorder
- c.828+6C>T Single submitter PRPH2-related disorder
- c.829-1G>A Single submitter PRPH2-related disorder
- c.-60C>T Single submitter retinitis pigmentosa
- c.*1079G>A Single submitter cone-rod dystrophy
- c.*152G>A Single submitter fundus albipunctatus
- c.*1565G>A Single submitter retinitis pigmentosa
- c.*1687C>T Single submitter retinitis pigmentosa
- c.*20C>T Single submitter adult-onset foveomacular vitelliform dystrophy
- c.*509G>A Single submitter retinitis pigmentosa
- c.*797G>A Single submitter choroidal dystrophy, central areolar 2
- p.Ala116Ser Single submitter inherited retinal dystrophy
- p.Ala232Thr Single submitter PRPH2-related disorder
- p.Ala232Val Single submitter inherited retinal dystrophy
- p.Ala339Thr Single submitter inherited retinal dystrophy
- p.Arg123Trp Single submitter patterned macular dystrophy 1
- p.Arg13Trp Single submitter PRPH2-related disorder
- p.Arg142Gln Single submitter PRPH2-related disorder
- p.Arg195Gly Single submitter PRPH2-related disorder
- p.Arg195Pro Single submitter PRPH2-related disorder
- p.Arg220Gly Single submitter PRPH2-related disorder
- p.Arg220Trp Single submitter PRPH2-related disorder
- p.Arg284= Single submitter retinitis pigmentosa
- p.Arg284Cys Single submitter PRPH2-related disorder
- p.Asp186Gly Single submitter PRPH2-related disorder
- p.Asp207Gly Single submitter PRPH2-related disorder
- p.Asp84= Single submitter adult-onset foveomacular vitelliform dystrophy
- p.Cys165Phe Single submitter retinitis pigmentosa
- p.Cys166Tyr Single submitter PRPH2-related disorder
- p.Cys222Tyr Single submitter Stargardt disease
- p.Gln178Arg Single submitter PRPH2-related disorder
- p.Glu127Gly Single submitter cone-rod dystrophy
- p.Glu242Gly Single submitter Usher syndrome
- p.Glu309Asp Single submitter PRPH2-related disorder
- p.Gly208Asp Single submitter PRPH2-related disorder
- p.Gly249Ser Single submitter inherited retinal dystrophy
- p.Gly305Asp Single submitter PRPH2-related disorder
- p.Gly336= Single submitter adult-onset foveomacular vitelliform dystrophy
- p.Ile104= Single submitter adult-onset foveomacular vitelliform dystrophy
- p.Ile161Met Single submitter Stargardt disease
- p.Ile32Val Single submitter PRPH2-related disorder
- p.Leu159Arg Single submitter PRPH2-related disorder
- p.Leu159Pro Single submitter PRPH2-related disorder
- p.Leu261Phe Single submitter PRPH2-related disorder
- p.Leu271del Single submitter vitelliform macular dystrophy 2
- p.Leu41Pro Single submitter PRPH2-related disorder
- p.Lys135Glu Single submitter PRPH2-related disorder
- p.Lys153Glu Single submitter PRPH2-related disorder
- p.Lys15Arg Single submitter patterned macular dystrophy 1
- p.Lys190Glu Single submitter PRPH2-related disorder
- p.Lys325fs Single submitter PRPH2-related disorder
- p.Met152Val Single submitter inherited retinal dystrophy
- p.Met1Val Single submitter inherited retinal dystrophy
- p.Phe319Leu Single submitter retinitis pigmentosa
- p.Pro219Arg Single submitter PRPH2-related disorder
- p.Pro219Ser Single submitter PRPH2-related disorder
- p.Pro296= Single submitter patterned macular dystrophy 1
- p.Pro313Leu Single submitter PRPH2-related disorder
- p.Ser125Leu Single submitter patterned macular dystrophy 1
- p.Ser217Gly Single submitter patterned dystrophy of the retinal pigment epithelium
- p.Ser218Leu Single submitter isolated macular dystrophy
- p.Ser27Phe Single submitter PRPH2-related disorder
- p.Ser289Leu Single submitter PRPH2-related disorder
- p.Thr228Ile Single submitter PRPH2-related disorder
- p.Tyr204His Single submitter patterned dystrophy of the retinal pigment epithelium
- p.Tyr236= Single submitter retinitis pigmentosa
- p.Tyr83= Single submitter PRPH2-related disorder
- p.Tyr91Asn Single submitter patterned dystrophy of the retinal pigment epithelium
- p.Val200Met Single submitter PRPH2-related disorder
- p.Val267= Single submitter retinitis pigmentosa
- p.Val268Ile Single submitter PRPH2-related disorder
- p.Val277Gly Single submitter PRPH2-related disorder
- p.Val332Glu Single submitter vitelliform macular dystrophy 3
- p.Val332Met Single submitter PRPH2-related disorder
Benign 37
- c.829-48C>T Multiple submitters
- c.-11A>C Multiple submitters retinitis pigmentosa
- c.*1001C>A Multiple submitters retinitis pigmentosa
- c.*132C>T Multiple submitters choroidal dystrophy, central areolar 2
- c.*1357C>T Multiple submitters retinitis pigmentosa
- c.*1375C>T Multiple submitters retinitis pigmentosa
- c.*13C>T Multiple submitters retinitis pigmentosa
- c.*145G>A Multiple submitters choroidal dystrophy, central areolar 2
- c.*174C>T Multiple submitters retinitis pigmentosa
- c.*276G>C Multiple submitters choroidal dystrophy, central areolar 2
- c.*543G>A Multiple submitters choroidal dystrophy, central areolar 2
- c.*762C>T Multiple submitters retinitis pigmentosa
- c.*839G>A Multiple submitters cone-rod dystrophy
- c.*898C>A Multiple submitters choroidal dystrophy, central areolar 2
- p.Arg310Lys Multiple submitters PRPH2-related disorder
- p.Asp338Gly Multiple submitters PRPH2-related disorder
- p.Gln304Glu Multiple submitters PRPH2-related disorder
- p.Val106= Multiple submitters PRPH2-related disorder
- c.581+81C>T Single submitter
- c.582-225C>T Single submitter
- c.582-58A>G Single submitter
- c.582-67T>A Single submitter
- c.582-85G>A Single submitter
- c.828+176TATT[5] Single submitter
- c.828+176TATT[7] Single submitter
- c.828+241del Single submitter
- c.828+244T>A Single submitter
- c.828+260del Single submitter
- c.828+284_828+285del Single submitter
- c.829-120C>G Single submitter
- c.829-230A>G Single submitter
- c.829-261G>T Single submitter
- c.+13C>T Single submitter
- c.*1370A>T Single submitter
- c.*483_*484dup Single submitter
- c.*484del Single submitter
- p.Thr155Ser No assertion criteria
Benign/Likely benign 10
- p.Ile161= Multiple submitters patterned macular dystrophy 1
- p.Leu45Phe Multiple submitters PRPH2-related disorder
- p.Ser303= Multiple submitters inherited retinal dystrophy
- c.*1121A>C Single submitter retinitis pigmentosa
- c.*1230C>T Single submitter retinitis pigmentosa
- c.*1313G>A Single submitter retinitis pigmentosa
- c.*1372C>A Single submitter cone-rod dystrophy
- c.*1524G>C Single submitter choroidal dystrophy, central areolar 2
- c.*1534T>C Single submitter retinitis pigmentosa
- c.*989G>A Single submitter choroidal dystrophy, central areolar 2
Likely benign 90
- c.582-14dup Multiple submitters PRPH2-related disorder
- c.828+19G>C Multiple submitters PRPH2-related disorder
- c.828+19G>T Multiple submitters PRPH2-related disorder
- c.828+20G>A Multiple submitters PRPH2-related disorder
- c.828+20G>C Multiple submitters PRPH2-related disorder
- c.829-18C>T Multiple submitters PRPH2-related disorder
- p.Ala2= Multiple submitters PRPH2-related disorder
- p.Ala334= Multiple submitters PRPH2-related disorder
- p.Arg220= Multiple submitters PRPH2-related disorder
- p.Asn136= Multiple submitters PRPH2-related disorder
- p.Asn169= Multiple submitters PRPH2-related disorder
- p.Asn199= Multiple submitters PRPH2-related disorder
- p.Asp338= Multiple submitters PRPH2-related disorder
- p.Cys166= Multiple submitters PRPH2-related disorder
- p.Ile156= Multiple submitters PRPH2-related disorder
- p.Pro100= Multiple submitters PRPH2-related disorder
- p.Pro210= Multiple submitters PRPH2-related disorder
- p.Pro88= Multiple submitters PRPH2-related disorder
- p.Ser125= Multiple submitters PRPH2-related disorder
- p.Ser198= Multiple submitters PRPH2-related disorder
- p.Ser301= Multiple submitters PRPH2-related disorder
- p.Ser311= Multiple submitters PRPH2-related disorder
- p.Ser49= Multiple submitters PRPH2-related disorder
- p.Thr228= Multiple submitters PRPH2-related disorder
- c.581+16T>C Single submitter PRPH2-related disorder
- c.581+7G>C Single submitter PRPH2-related disorder
- c.582-20G>C Single submitter PRPH2-related disorder
- c.582-7dup Single submitter PRPH2-related disorder
- c.828+10G>A Single submitter PRPH2-related disorder
- c.828+12G>A Single submitter PRPH2-related disorder
- c.828+15A>C Single submitter PRPH2-related disorder
- c.829-21A>T Single submitter
- c.829-6C>T Single submitter PRPH2-related disorder
- c.*484dup Single submitter
- p.Arg203= Single submitter PRPH2-related disorder
- p.Asn62= Single submitter PRPH2-related disorder
- p.Asp145= Single submitter PRPH2-related disorder
- p.Asp201= Single submitter PRPH2-related disorder
- p.Asp207= Single submitter PRPH2-related disorder
- p.Asp291= Single submitter PRPH2-related disorder
- p.Cys72= Single submitter PRPH2-related disorder
- p.Gln18= Single submitter PRPH2-related disorder
- p.Gln331= Single submitter PRPH2-related disorder
- p.Gln341= Single submitter
- p.Glu321= Single submitter PRPH2-related disorder
- p.Gly133= Single submitter PRPH2-related disorder
- p.Gly137= Single submitter PRPH2-related disorder
- p.Gly208= Single submitter PRPH2-related disorder
- p.Gly266= Single submitter PRPH2-related disorder
- p.Gly282= Single submitter PRPH2-related disorder
- p.Gly340= Single submitter PRPH2-related disorder
- p.Gly68= Single submitter PRPH2-related disorder
- p.Ile272= Single submitter PRPH2-related disorder
- p.Leu112= Single submitter PRPH2-related disorder
- p.Leu16= Single submitter PRPH2-related disorder
- p.Leu185= Single submitter PRPH2-related disorder
- p.Leu205= Single submitter PRPH2-related disorder
- p.Leu255= Single submitter PRPH2-related disorder
- p.Leu261= Single submitter PRPH2-related disorder
- p.Leu270= Single submitter PRPH2-related disorder
- p.Leu271= Single submitter PRPH2-related disorder
- p.Leu308= Single submitter PRPH2-related disorder
- p.Leu326= Single submitter PRPH2-related disorder
- p.Leu39= Single submitter PRPH2-related disorder
- p.Leu4= Single submitter PRPH2-related disorder
- p.Leu70= Single submitter
- p.Lys135= Single submitter
- p.Lys197= Single submitter PRPH2-related disorder
- p.Lys90= Single submitter
- p.Lys95= Single submitter PRPH2-related disorder
- p.Phe108= Single submitter PRPH2-related disorder
- p.Pro219= Single submitter PRPH2-related disorder
- p.Pro221= Single submitter PRPH2-related disorder
- p.Pro313= Single submitter PRPH2-related disorder
- p.Ser188= Single submitter PRPH2-related disorder
- p.Ser189= Single submitter
- p.Ser217= Single submitter PRPH2-related disorder
- p.Ser218= Single submitter PRPH2-related disorder
- p.Ser27= Single submitter PRPH2-related disorder
- p.Ser294= Single submitter PRPH2-related disorder
- p.Ser76= Single submitter PRPH2-related disorder
- p.Thr129= Single submitter
- p.Thr269= Single submitter PRPH2-related disorder
- p.Thr288= Single submitter PRPH2-related disorder
- p.Thr315= Single submitter PRPH2-related disorder
- p.Tyr204= Single submitter PRPH2-related disorder
- p.Val192= Single submitter PRPH2-related disorder
- p.Val206= Single submitter PRPH2-related disorder
- p.Val293= Single submitter PRPH2-related disorder
- c.582-58A>C No assertion criteria
Uncertain significance 274
- c.581+5G>T Multiple submitters retinal disorder
- c.-166G>A Multiple submitters patterned macular dystrophy 1
- c.*592A>T Multiple submitters choroidal dystrophy, central areolar 2
- p.Ala2Glu Multiple submitters PRPH2-related disorder
- p.Ala2Thr Multiple submitters PRPH2-related disorder
- p.Ala89Thr Multiple submitters PRPH2-related disorder
- p.Arg149Gly Multiple submitters PRPH2-related disorder
- p.Arg183Cys Multiple submitters PRPH2-related disorder
- p.Arg183His Multiple submitters PRPH2-related disorder
- p.Arg248His Multiple submitters
- p.Arg251Gly Multiple submitters Inborn genetic diseases
- p.Arg46Gln Multiple submitters PRPH2-related disorder
- p.Asn199Ser Multiple submitters PRPH2-related disorder
- p.Asp207Glu Multiple submitters PRPH2-related disorder
- p.Asp237Asn Multiple submitters PRPH2-related disorder
- p.Asp84Asn Multiple submitters PRPH2-related disorder
- p.Asp84Glu Multiple submitters PRPH2-related disorder
- p.Cys72Ser Multiple submitters Inborn genetic diseases
- p.Gln304Pro Multiple submitters PRPH2-related disorder
- p.Glu162Lys Multiple submitters patterned macular dystrophy 1
- p.Glu56Gly Multiple submitters fundus albipunctatus
- p.Gly137Ser Multiple submitters PRPH2-related disorder
- p.Gly170Ser Multiple submitters PRPH2-related disorder
- p.Gly31Val Multiple submitters patterned macular dystrophy 1
- p.His233Arg Multiple submitters PRPH2-related disorder
- p.His238Asn Multiple submitters
- p.Ile156Met Multiple submitters PRPH2-related disorder
- p.Ile227Met Multiple submitters PRPH2-related disorder
- p.Ile33Thr Multiple submitters PRPH2-related disorder
- p.Leu134Pro Multiple submitters PRPH2-related disorder
- p.Leu205Pro Multiple submitters Stargardt disease
- p.Leu255Met Multiple submitters Inborn genetic diseases
- p.Leu283Pro Multiple submitters PRPH2-related disorder
- p.Leu308Gln Multiple submitters PRPH2-related disorder
- p.Lys7Asn Multiple submitters PRPH2-related disorder
- p.Met265Ile Multiple submitters PRPH2-related disorder
- p.Phe275Leu Multiple submitters PRPH2-related disorder
- p.Pro100Leu Multiple submitters PRPH2-related disorder
- p.Pro219Thr Multiple submitters PRPH2-related disorder
- p.Pro313Ser Multiple submitters PRPH2-related disorder
- p.Pro343Ser Multiple submitters PRPH2-related disorder
- p.Ser188Phe Multiple submitters Inborn genetic diseases
- p.Ser217Cys Multiple submitters PRPH2-related disorder
- p.Ser259_Ser260insLeu Multiple submitters PRPH2-related disorder
- p.Ser264Cys Multiple submitters PRPH2-related disorder
- p.Ser311Arg Multiple submitters PRPH2-related disorder
- p.Thr144Lys Multiple submitters Inborn genetic diseases
- p.Thr155Ile Multiple submitters PRPH2-related disorder
- p.Thr240Lys Multiple submitters PRPH2-related disorder
- p.Thr269Arg Multiple submitters PRPH2-related disorder
- p.Thr288Met Multiple submitters PRPH2-related disorder
- p.Trp25Cys Multiple submitters PRPH2-related disorder
- p.Trp316Gly Multiple submitters PRPH2-related disorder
- p.Tyr257Cys Multiple submitters PRPH2-related disorder
- p.Tyr258Asn Multiple submitters PRPH2-related disorder
- p.Val267Ile Multiple submitters vitelliform macular dystrophy 3
- p.Val28Met Multiple submitters PRPH2-related disorder
- c.581+6T>A Single submitter PRPH2-related disorder
- c.581+6T>C Single submitter PRPH2-related disorder
- c.581+6T>G Single submitter PRPH2-related disorder
- c.582-14T>A Single submitter PRPH2-related disorder
- c.582-15_582-12del Single submitter
- c.828+3A>G Single submitter PRPH2-related disorder
- c.828+5G>T Single submitter PRPH2-related disorder
- c.829-1_835del Single submitter PRPH2-related disorder
- c.829-3C>G Single submitter PRPH2-related disorder
- c.-116C>G Single submitter choroidal dystrophy, central areolar 2
- c.-59G>A Single submitter choroidal dystrophy, central areolar 2
- c.*1000C>G Single submitter fundus albipunctatus
- c.*1007C>A Single submitter retinitis pigmentosa
- c.*1299C>T Single submitter retinitis pigmentosa
- c.*1408G>C Single submitter retinitis pigmentosa
- c.*152G>C Single submitter fundus albipunctatus
- c.*1533A>G Single submitter fundus albipunctatus
- c.*154C>T Single submitter retinitis pigmentosa
- c.*1580C>G Single submitter retinitis pigmentosa
- c.*213A>C Single submitter choroidal dystrophy, central areolar 2
- c.*350C>T Single submitter fundus albipunctatus
- c.*351G>A Single submitter choroidal dystrophy, central areolar 2
- c.*3G>A Single submitter
- c.*417A>T Single submitter fundus albipunctatus
- c.*626A>G Single submitter fundus albipunctatus
- c.*661G>A Single submitter retinitis pigmentosa
- c.*692C>T Single submitter fundus albipunctatus
- c.*743G>A Single submitter retinitis pigmentosa
- c.*917G>A Single submitter choroidal dystrophy, central areolar 2
- p.Ala103_Leu107del Single submitter
- p.Ala116Asp Single submitter PRPH2-related disorder
- p.Ala116Pro Single submitter PRPH2-related disorder
- p.Ala253Asp Single submitter PRPH2-related disorder
- p.Ala2Val Single submitter PRPH2-related disorder
- p.Ala334Val Single submitter PRPH2-related disorder
- p.Ala339_Gly340dup Single submitter PRPH2-related disorder
- p.Ala339fs Single submitter
- p.Ala339Gly Single submitter
- p.Ala342Ser Single submitter fundus albipunctatus
- p.Ala342Thr Single submitter PRPH2-related disorder
- p.Ala345Pro Single submitter PRPH2-related disorder
- p.Ala85Thr Single submitter PRPH2-related disorder
- p.Ala92Thr Single submitter PRPH2-related disorder
- p.Arg123= Single submitter
- p.Arg183Leu Single submitter
- p.Arg203Gln Single submitter PRPH2-related disorder
- p.Arg203Gly Single submitter
- p.Arg203Leu Single submitter Inborn genetic diseases
- p.Arg203Trp Single submitter Inborn genetic diseases
- p.Arg248Ser Single submitter
- p.Arg284Pro Single submitter PRPH2-related disorder
- p.Arg310= Single submitter inherited retinal dystrophy
- p.Arg310del Single submitter PRPH2-related disorder
- p.Arg310Glu Single submitter PRPH2-related disorder
- p.Arg310Ser Single submitter
- p.Arg46Pro Single submitter
- p.Asn109Ser Single submitter PRPH2-related disorder
- p.Asn229Lys Single submitter
- p.Asn230del Single submitter PRPH2-related disorder
- p.Asn230Lys Single submitter inherited retinal dystrophy
- p.Asn295Lys Single submitter PRPH2-related disorder
- p.Asn330Ser Single submitter PRPH2-related disorder
- p.Asn62Lys Single submitter Inborn genetic diseases
- p.Asp145Ala Single submitter Inborn genetic diseases
- p.Asp186Val Single submitter inherited retinal dystrophy
- p.Asp194Glu Single submitter PRPH2-related disorder
- p.Asp194His Single submitter PRPH2-related disorder
- p.Asp207del Single submitter
- p.Asp338_Ala339del Single submitter PRPH2-related disorder
- p.Asp50Asn Single submitter PRPH2-related disorder
- p.Cys105Tyr Single submitter PRPH2-related disorder
- p.Cys119Arg Single submitter Inborn genetic diseases
- p.Cys119Trp Single submitter
- p.Cys166Trp Single submitter PRPH2-related disorder
- p.Cys214= Single submitter retinitis pigmentosa 7
- p.Cys72_Val73delinsPhe Single submitter PRPH2-related disorder
- p.Cys82Phe Single submitter PRPH2-related disorder
- p.Gln224Lys Single submitter PRPH2-related disorder
- p.Gln224Pro Single submitter
- p.Gln226Arg Single submitter PRPH2-related disorder
- p.Gln304_Gly305insSerGlu Single submitter PRPH2-related disorder
- p.Gln304Arg Single submitter PRPH2-related disorder
- p.Gln304delinsGluSerGlu Single submitter
- p.Gln304Lys Single submitter PRPH2-related disorder
- p.Gln304Val Single submitter
- p.Glu162Gln Single submitter PRPH2-related disorder
- p.Glu176Val Single submitter PRPH2-related disorder
- p.Glu242dup Single submitter PRPH2-related disorder
- p.Glu276Asp Single submitter PRPH2-related disorder
- p.Glu276Gln Single submitter PRPH2-related disorder
- p.Glu276Lys Single submitter PRPH2-related disorder
- p.Glu297Lys Single submitter PRPH2-related disorder
- p.Glu302Lys Single submitter PRPH2-related disorder
- p.Glu309Lys Single submitter PRPH2-related disorder
- p.Glu321Ter Single submitter Stargardt disease
- p.Glu335Asp Single submitter
- p.Glu335Lys Single submitter PRPH2-related disorder
- p.Glu44Asp Single submitter
- p.Gly133Arg Single submitter PRPH2-related disorder
- p.Gly170Val Single submitter
- p.Gly208Arg Single submitter
- p.Gly208dup Single submitter inherited retinal dystrophy
- p.Gly249Asp Single submitter PRPH2-related disorder
- p.Gly249Val Single submitter PRPH2-related disorder
- p.Gly329= Single submitter PRPH2-related disorder
- p.Ile177Thr Single submitter PRPH2-related disorder
- p.Ile180Asn Single submitter PRPH2-related disorder
- p.Ile227Thr Single submitter PRPH2-related disorder
- p.Ile272Val Single submitter PRPH2-related disorder
- p.Ile279Leu Single submitter PRPH2-related disorder
- p.Ile279Thr Single submitter
- p.Ile281Thr Single submitter PRPH2-related disorder
- p.Ile65Val Single submitter Inborn genetic diseases
- p.Leu114Arg Single submitter
- p.Leu205Gln Single submitter PRPH2-related disorder
- p.Leu254Val Single submitter
- p.Leu261Pro Single submitter PRPH2-related disorder
- p.Leu270Pro Single submitter retinitis pigmentosa 7
- p.Leu271Phe Single submitter PRPH2-related disorder
- p.Leu274Arg Single submitter PRPH2-related disorder
- p.Leu307Met Single submitter
- p.Leu307Pro Single submitter PRPH2-related disorder
- p.Leu98Met Single submitter PRPH2-related disorder
- p.Lys11Asn Single submitter
- p.Lys139Glu Single submitter Inborn genetic diseases
- p.Lys153Met Single submitter
- p.Lys153Thr Single submitter Stargardt disease
- p.Lys154Arg Single submitter PRPH2-related disorder
- p.Lys154Asn Single submitter PRPH2-related disorder
- p.Lys154Gln Single submitter PRPH2-related disorder
- p.Lys154Met Single submitter Inborn genetic diseases
- p.Lys15Asn Single submitter PRPH2-related disorder
- p.Lys325Asn Single submitter PRPH2-related disorder
- p.Lys325del Single submitter PRPH2-related disorder
- p.Lys47Asn Single submitter Inborn genetic diseases
- p.Lys47Glu Single submitter PRPH2-related disorder
- p.Lys90Arg Single submitter PRPH2-related disorder
- p.Met138Leu Single submitter PRPH2-related disorder
- p.Met138Thr Single submitter PRPH2-related disorder
- p.Met152Leu Single submitter
- p.Met23Ile Single submitter PRPH2-related disorder
- p.Met23Leu Single submitter
- p.Met262Thr Single submitter PRPH2-related disorder
- p.Met265Lys Single submitter PRPH2-related disorder
- p.Met265Thr Single submitter PRPH2-related disorder
- p.Met52Ile Single submitter
- p.Met67Thr Single submitter PRPH2-related disorder
- p.Phe171Ile Single submitter PRPH2-related disorder
- p.Phe175Val Single submitter patterned macular dystrophy 1
- p.Phe187Leu Single submitter PRPH2-related disorder
- p.Phe35Tyr Single submitter Inborn genetic diseases
- p.Pro147His Single submitter PRPH2-related disorder
- p.Pro210_Phe211insValPro Single submitter
- p.Pro216_Ser217insGlyValProPheSerCysCysAsnPro Single submitter
- p.Pro221Ser Single submitter
- p.Pro313Gln Single submitter PRPH2-related disorder
- p.Pro61Leu Single submitter
- p.Pro61Ser Single submitter PRPH2-related disorder
- p.Pro88_Ala89insArg Single submitter
- p.Pro96Ser Single submitter PRPH2-related disorder
- p.Ser181Cys Single submitter Stargardt disease
- p.Ser181Ile Single submitter PRPH2-related disorder
- p.Ser198Thr Single submitter inherited retinal dystrophy
- p.Ser218_Pro219insAspGlyValProPheSerCysCysAsnProSerSer Single submitter PRPH2-related disorder
- p.Ser235Gly Single submitter PRPH2-related disorder
- p.Ser256Asn Single submitter PRPH2-related disorder
- p.Ser260Arg Single submitter PRPH2-related disorder
- p.Ser260Cys Single submitter inherited retinal dystrophy
- p.Ser311Thr Single submitter PRPH2-related disorder
- p.Ser322Asn Single submitter PRPH2-related disorder
- p.Ser36Thr Single submitter
- p.Ser49Thr Single submitter PRPH2-related disorder
- p.Ser57Arg Single submitter PRPH2-related disorder
- p.Thr144Ala Single submitter Inborn genetic diseases
- p.Thr269Pro Single submitter PRPH2-related disorder
- p.Trp174Ser Single submitter cone-rod dystrophy
- p.Trp97Arg Single submitter PRPH2-related disorder
- p.Tyr184Cys Single submitter PRPH2-related disorder
- p.Tyr184Ser Single submitter inherited retinal dystrophy
- p.Tyr204Cys Single submitter PRPH2-related disorder
- p.Tyr225_Gln226insHis Single submitter
- p.Tyr225Cys Single submitter PRPH2-related disorder
- p.Tyr234Cys Single submitter PRPH2-related disorder
- p.Tyr234His Single submitter PRPH2-related disorder
- p.Tyr257His Single submitter PRPH2-related disorder
- p.Tyr258Gln Single submitter PRPH2-related disorder
- p.Tyr91His Single submitter PRPH2-related disorder
- p.Val14Ile Single submitter Inborn genetic diseases
- p.Val206Ala Single submitter inherited retinal dystrophy
- p.Val247Ala Single submitter PRPH2-related disorder
- p.Val267Ala Single submitter PRPH2-related disorder
- p.Val268Ala Single submitter PRPH2-related disorder
- p.Val268Leu Single submitter PRPH2-related disorder
- p.Val268Phe Single submitter PRPH2-related disorder
- p.Val312Met Single submitter PRPH2-related disorder
- p.Val51Glu Single submitter
- p.Val69Leu Single submitter patterned macular dystrophy 1
- c.581+4dup No assertion criteria
- c.*31_*43del No assertion criteria inherited retinal dystrophy
- c.*847_*850del No assertion criteria
- p.Ala252Pro No assertion criteria
- p.Ala337Thr No assertion criteria
- p.Asp145Asn No assertion criteria inherited retinal dystrophy
- p.Asp50His No assertion criteria
- p.Cys222Ser No assertion criteria
- p.Gln160Arg No assertion criteria inherited retinal dystrophy
- p.Glu333Lys No assertion criteria prostate cancer
- p.Glu335= No assertion criteria
- p.Ile156Val No assertion criteria inherited retinal dystrophy
- p.Ile180Met No assertion criteria
- p.Ile196Phe No assertion criteria
- p.Leu286Pro No assertion criteria
- p.Leu39Pro No assertion criteria
- p.Leu77Gln No assertion criteria inherited retinal dystrophy
- p.Met67del No assertion criteria
- p.Thr288Lys No assertion criteria
- p.Tyr101= No assertion criteria