PRPF31 — 850 ClinVar variants
All ClinVar germline PRPF31 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 211 flagged for review →
151 Pathogenic · 33 Pathogenic/Likely pathogenic · 99 Likely pathogenic · 59 Conflicting · 23 Benign · 16 Benign/Likely benign · 213 Likely benign · 256 Uncertain significance
Full PRPF31 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 211
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PRPF31 p.Leu107Val
Likely pathogenic
Single submitter
PRPF31-related disorder
Predictors agree, ClinVar conflicts 20
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PRPF31 p.Ala199Thr
Conflicting
Single submitter
Inborn genetic diseases
-
PRPF31 p.Ala228Pro
Conflicting
Single submitter
PRPF31-related disorder
-
PRPF31 p.Ala375Pro
Conflicting
Single submitter
PRPF31-related disorder
-
PRPF31 p.Arg304Cys
Conflicting
Single submitter
PRPF31-related disorder
-
PRPF31 p.Arg377Gly
Conflicting
Single submitter
PRPF31-related disorder
-
PRPF31 p.Arg406Gly
Conflicting
Single submitter
Inborn genetic diseases
-
PRPF31 p.Arg91His
Conflicting
Single submitter
inherited retinal dystrophy
- PRPF31 p.Asn131Ser Conflicting Single submitter
-
PRPF31 p.Asp192Asn
Conflicting
Single submitter
Inborn genetic diseases
-
PRPF31 p.Gln425His
Conflicting
Single submitter
retinitis pigmentosa
-
PRPF31 p.Gly272Val
Conflicting
Single submitter
PRPF31-related disorder
-
PRPF31 p.Ile222Val
Conflicting
Single submitter
Inborn genetic diseases
-
PRPF31 p.Ile274Ser
Conflicting
Single submitter
PRPF31-related disorder
-
PRPF31 p.Ile274Thr
Conflicting
Single submitter
retinitis pigmentosa
-
PRPF31 p.Leu219Met
Conflicting
Single submitter
Inborn genetic diseases
-
PRPF31 p.Lys140Asn
Conflicting
Single submitter
retinitis pigmentosa
- PRPF31 p.Met65Lys Conflicting Single submitter
-
PRPF31 p.Phe380Leu
Conflicting
Single submitter
PRPF31-related disorder
-
PRPF31 p.Thr312Ile
Conflicting
Single submitter
retinitis pigmentosa 11
-
PRPF31 p.Thr50Ile
Conflicting
Single submitter
retinitis pigmentosa
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
PRPF31 c.1146+2T>G
Conflicting
Single submitter
retinitis pigmentosa 11
Predictors lean, ClinVar uncertain 136
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRPF31 p.Ala171Thr Uncertain significance Multiple submitters
- PRPF31 p.Ala246Thr Uncertain significance Multiple submitters
- PRPF31 p.Ala345Val Uncertain significance Multiple submitters
- PRPF31 p.Ala415Thr Uncertain significance Multiple submitters
- PRPF31 p.Ala484Gly Uncertain significance Multiple submitters
- PRPF31 p.Ala61Gly Uncertain significance Multiple submitters
-
PRPF31 p.Arg186Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PRPF31 p.Arg256His Uncertain significance Multiple submitters
- PRPF31 p.Arg304His Uncertain significance Multiple submitters
-
PRPF31 p.Arg326Cys
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
PRPF31 p.Arg357Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PRPF31 p.Arg372Trp Uncertain significance Multiple submitters
- PRPF31 p.Arg406His Uncertain significance Multiple submitters
-
PRPF31 p.Arg408Trp
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
PRPF31 p.Asn218Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRPF31 p.Asp42Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRPF31 p.Gln36Arg
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
PRPF31 p.Gln374Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PRPF31 p.Gln74Glu Uncertain significance Multiple submitters
-
PRPF31 p.Glu182Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRPF31 p.Glu38Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRPF31 p.Gly236Ser
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
PRPF31 p.Ile215Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRPF31 p.Ile249Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PRPF31 p.Ile274Asn Uncertain significance Multiple submitters
-
PRPF31 p.Leu125Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- PRPF31 p.Leu195Pro Uncertain significance Multiple submitters
-
PRPF31 p.Leu396Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRPF31 p.Lys298Arg
Uncertain significance
Multiple submitters
retinitis pigmentosa 11
-
PRPF31 p.Lys315Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PRPF31 p.Ser277Arg Uncertain significance Multiple submitters
- PRPF31 p.Ser402Leu Uncertain significance Multiple submitters
-
PRPF31 p.Ser494Gly
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- PRPF31 p.Thr258Met Uncertain significance Multiple submitters
-
PRPF31 p.Thr423Met
Uncertain significance
Multiple submitters
retinitis pigmentosa 11
- PRPF31 p.Val101Met Uncertain significance Multiple submitters
- PRPF31 p.Val280Met Uncertain significance Multiple submitters
-
PRPF31 p.Val433Ile
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
PRPF31 p.Val92Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PRPF31 p.Val94Met Uncertain significance Multiple submitters
- PRPF31 p.Ala254Ser Uncertain significance Single submitter
- PRPF31 p.Ala291Pro Uncertain significance Single submitter
- PRPF31 p.Ala296Asp Uncertain significance Single submitter
- PRPF31 p.Ala31Val Uncertain significance Single submitter
- PRPF31 p.Ala375Gly Uncertain significance Single submitter
-
PRPF31 p.Ala387Ser
Uncertain significance
Single submitter
inherited retinal dystrophy
- PRPF31 p.Ala453Asp Uncertain significance Single submitter
- PRPF31 p.Ala75Asp Uncertain significance Single submitter
- PRPF31 p.Arg186Leu Uncertain significance Single submitter
- PRPF31 p.Arg289Trp Uncertain significance Single submitter
- PRPF31 p.Arg293Gln Uncertain significance Single submitter
- PRPF31 p.Arg293Trp Uncertain significance Single submitter
- PRPF31 p.Arg354Leu Uncertain significance Single submitter
- PRPF31 p.Arg357Leu Uncertain significance Single submitter
- PRPF31 p.Arg358Ser Uncertain significance Single submitter
- PRPF31 p.Arg365Trp Uncertain significance Single submitter
- PRPF31 p.Arg377His Uncertain significance Single submitter
- PRPF31 p.Arg377Leu Uncertain significance Single submitter
- PRPF31 p.Arg406Cys Uncertain significance Single submitter
- PRPF31 p.Asn154Lys Uncertain significance Single submitter
- PRPF31 p.Asn218Lys Uncertain significance Single submitter
-
PRPF31 p.Asn376Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF31 p.Asp116Gly
Uncertain significance
Single submitter
inherited retinal dystrophy
- PRPF31 p.Asp278Asn Uncertain significance Single submitter
- PRPF31 p.Asp306Gly Uncertain significance Single submitter
- PRPF31 p.Asp46Asn Uncertain significance Single submitter
- PRPF31 p.Gln177Glu Uncertain significance Single submitter
- PRPF31 p.Glu106Lys Uncertain significance Single submitter
- PRPF31 p.Glu185Val Uncertain significance Single submitter
- PRPF31 p.Glu188Gln Uncertain significance Single submitter
- PRPF31 p.Glu188Lys Uncertain significance Single submitter
- PRPF31 p.Glu29Gln Uncertain significance Single submitter
-
PRPF31 p.Glu319Gln
Uncertain significance
Single submitter
inherited retinal dystrophy
- PRPF31 p.Glu319Val Uncertain significance Single submitter
-
PRPF31 p.Glu382Asp
Uncertain significance
Single submitter
inherited retinal dystrophy
- PRPF31 p.Gly176Arg Uncertain significance Single submitter
- PRPF31 p.Gly21Arg Uncertain significance Single submitter
- PRPF31 p.Gly224Arg Uncertain significance Single submitter
- PRPF31 p.Gly237Val Uncertain significance Single submitter
-
PRPF31 p.Gly24Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- PRPF31 p.Gly24Arg Uncertain significance Single submitter
- PRPF31 p.Gly253Arg Uncertain significance Single submitter
- PRPF31 p.Gly317Ser Uncertain significance Single submitter
- PRPF31 p.Gly491Ser Uncertain significance Single submitter
- PRPF31 p.His111Arg Uncertain significance Single submitter
- PRPF31 p.His270Asp Uncertain significance Single submitter
- PRPF31 p.Ile109Val Uncertain significance Single submitter
- PRPF31 p.Ile110Asn Uncertain significance Single submitter
- PRPF31 p.Ile231Met Uncertain significance Single submitter
- PRPF31 p.Ile249Phe Uncertain significance Single submitter
- PRPF31 p.Ile324Asn Uncertain significance Single submitter
- PRPF31 p.Ile462Thr Uncertain significance Single submitter
- PRPF31 p.Leu146Pro Uncertain significance Single submitter
- PRPF31 p.Leu155Val Uncertain significance Single submitter
- PRPF31 p.Leu195Val Uncertain significance Single submitter
- PRPF31 p.Leu238Pro Uncertain significance Single submitter
- PRPF31 p.Leu301Pro Uncertain significance Single submitter
-
PRPF31 p.Leu320Pro
Uncertain significance
Single submitter
retinitis pigmentosa 11
-
PRPF31 p.Leu41Val
Uncertain significance
Single submitter
inherited retinal dystrophy
-
PRPF31 p.Lys243Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PRPF31 p.Lys290Asn Uncertain significance Single submitter
- PRPF31 p.Lys401Arg Uncertain significance Single submitter
- PRPF31 p.Lys478Arg Uncertain significance Single submitter
- PRPF31 p.Lys73Glu Uncertain significance Single submitter
-
PRPF31 p.Met193Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PRPF31 p.Met212Val Uncertain significance Single submitter
- PRPF31 p.Met378Leu Uncertain significance Single submitter
- PRPF31 p.Met81Val Uncertain significance Single submitter
- PRPF31 p.Pro217Thr Uncertain significance Single submitter
-
PRPF31 p.Pro30Leu
Uncertain significance
Single submitter
retinitis pigmentosa 11
- PRPF31 p.Pro30Ser Uncertain significance Single submitter
- PRPF31 p.Pro334Leu Uncertain significance Single submitter
- PRPF31 p.Pro88Arg Uncertain significance Single submitter
- PRPF31 p.Ser180Leu Uncertain significance Single submitter
- PRPF31 p.Ser242Pro Uncertain significance Single submitter
- PRPF31 p.Ser263Leu Uncertain significance Single submitter
- PRPF31 p.Ser2Cys Uncertain significance Single submitter
- PRPF31 p.Ser432Asn Uncertain significance Single submitter
- PRPF31 p.Ser482Asn Uncertain significance Single submitter
- PRPF31 p.Thr138Arg Uncertain significance Single submitter
- PRPF31 p.Thr138Lys Uncertain significance Single submitter
- PRPF31 p.Thr160Ser Uncertain significance Single submitter
- PRPF31 p.Thr170Ala Uncertain significance Single submitter
-
PRPF31 p.Thr170Ile
Uncertain significance
Single submitter
retinitis pigmentosa
- PRPF31 p.Thr499Ser Uncertain significance Single submitter
-
PRPF31 p.Tyr23Cys
Uncertain significance
Single submitter
retinitis pigmentosa 11
- PRPF31 p.Tyr435Cys Uncertain significance Single submitter
- PRPF31 p.Val434Ile Uncertain significance Single submitter
-
PRPF31 p.Arg115Pro
Uncertain significance
No assertion criteria
retinitis pigmentosa 11
- PRPF31 p.Asp306Ala Uncertain significance No assertion criteria
-
PRPF31 p.Gly381Arg
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
PRPF31 p.Ile114Asn
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
PRPF31 p.Leu241Pro
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
PRPF31 p.Met232Arg
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
PRPF31 p.Pro336Arg
Uncertain significance
No assertion criteria
retinitis pigmentosa 11
-
PRPF31 p.Thr265Ala
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 53
The independent predictors disagree with each other — read with care.
-
PRPF31 p.Ala235Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PRPF31 p.Ala297Thr Uncertain significance Multiple submitters
- PRPF31 p.Ala87Val Uncertain significance Multiple submitters
-
PRPF31 p.Arg211Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa 11
- PRPF31 p.Arg289Gln Uncertain significance Multiple submitters
-
PRPF31 p.Arg372Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRPF31 p.Arg442His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRPF31 p.Asn240His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PRPF31 p.Asp286His Uncertain significance Multiple submitters
- PRPF31 p.Ile279Ser Uncertain significance Multiple submitters
- PRPF31 p.Lys148Glu Uncertain significance Multiple submitters
-
PRPF31 p.Phe308Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRPF31 p.Pro269Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRPF31 p.Pro83Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRPF31 p.Ser445Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRPF31 p.Ser446Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PRPF31 p.Thr239Ile Uncertain significance Multiple submitters
- PRPF31 p.Val169Ile Uncertain significance Multiple submitters
- PRPF31 p.Ala194Val Uncertain significance Single submitter
- PRPF31 p.Ala246Ser Uncertain significance Single submitter
- PRPF31 p.Ala296Thr Uncertain significance Single submitter
- PRPF31 p.Arg137Cys Uncertain significance Single submitter
- PRPF31 p.Arg288Gln Uncertain significance Single submitter
- PRPF31 p.Arg408Gln Uncertain significance Single submitter
-
PRPF31 p.Arg442Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF31 p.Arg91Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF31 p.Asp286Tyr
Uncertain significance
Single submitter
inherited retinal dystrophy
- PRPF31 p.Asp329Asn Uncertain significance Single submitter
- PRPF31 p.Glu19Lys Uncertain significance Single submitter
-
PRPF31 p.Glu206Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- PRPF31 p.Glu28Lys Uncertain significance Single submitter
- PRPF31 p.Glu310Lys Uncertain significance Single submitter
- PRPF31 p.Glu323Lys Uncertain significance Single submitter
-
PRPF31 p.Gly356Ser
Uncertain significance
Single submitter
retinitis pigmentosa 11
-
PRPF31 p.Gly437Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PRPF31 p.Ile63Thr Uncertain significance Single submitter
- PRPF31 p.Leu251Pro Uncertain significance Single submitter
- PRPF31 p.Leu399Gln Uncertain significance Single submitter
- PRPF31 p.Lys470Asn Uncertain significance Single submitter
- PRPF31 p.Pro130Leu Uncertain significance Single submitter
-
PRPF31 p.Pro284Ser
Uncertain significance
Single submitter
retinitis pigmentosa 11
- PRPF31 p.Pro335Leu Uncertain significance Single submitter
-
PRPF31 p.Ser242Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF31 p.Ser307Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- PRPF31 p.Tyr70Cys Uncertain significance Single submitter
-
PRPF31 p.Val295Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PRPF31 p.Val295Met Uncertain significance Single submitter
- PRPF31 p.Val316Leu Uncertain significance Single submitter
- PRPF31 p.Val412Ala Uncertain significance Single submitter
-
PRPF31 p.Val84Ala
Conflicting
Single submitter
retinitis pigmentosa 11
- PRPF31 p.Val92Phe Uncertain significance Single submitter
-
PRPF31 p.Gln255Leu
Likely pathogenic
No assertion criteria
retinitis pigmentosa
-
PRPF31 p.Ser446Pro
Uncertain significance
No assertion criteria
Leber congenital amaurosis
All PRPF31 variants
Pathogenic 151
- c.1067_1073+8del Multiple submitters retinitis pigmentosa
- c.1073+1G>A Multiple submitters PRPF31-related disorder
- c.1074-2A>G Multiple submitters retinitis pigmentosa
- c.1074-2A>T Multiple submitters inherited retinal dystrophy
- c.1146+2T>C Multiple submitters PRPF31-related disorder
- c.1374+654C>G Multiple submitters PRPF31-related disorder
- c.178-2A>G Multiple submitters retinitis pigmentosa
- c.238+1G>A Multiple submitters inherited retinal dystrophy
- c.420+1G>A Multiple submitters PRPF31-related disorder
- c.421-2A>C Multiple submitters PRPF31-related disorder
- c.421-2A>G Multiple submitters inherited retinal dystrophy
- c.527+1G>T Multiple submitters PRPF31-related disorder
- c.528-1G>A Multiple submitters
- c.698-1G>A Multiple submitters PRPF31-related disorder
- c.856-2A>G Multiple submitters PRPF31-related disorder
- c.946-1G>C Multiple submitters PRPF31-related disorder
- p.Arg289fs Multiple submitters PRPF31-related disorder
- p.Cys191Ter Multiple submitters retinitis pigmentosa
- p.Gln156Ter Multiple submitters retinitis pigmentosa 11
- p.Gln157Ter Multiple submitters cone-rod dystrophy
- p.Gln255Ter Multiple submitters PRPF31-related disorder
- p.Gln374Ter Multiple submitters retinitis pigmentosa 11
- p.Gln425Ter Multiple submitters PRPF31-related disorder
- p.Gln431fs Multiple submitters PRPF31-related disorder
- p.Gln74Ter Multiple submitters PRPF31-related disorder
- p.Glu124fs Multiple submitters retinitis pigmentosa
- p.Glu28fs Multiple submitters retinitis pigmentosa
- p.Glu325Ter Multiple submitters retinitis pigmentosa 11
- p.Gly253fs Multiple submitters
- p.His111fs Multiple submitters PRPF31-related disorder
- p.Leu347fs Multiple submitters PRPF31-related disorder
- p.Lys120fs Multiple submitters
- p.Lys361_Met362insTer Multiple submitters PRPF31-related disorder
- p.Lys73Ter Multiple submitters inherited retinal dystrophy
- p.Trp55Ter Multiple submitters retinitis pigmentosa
- p.Tyr205Ter Multiple submitters PRPF31-related disorder
- c.1074-1G>A Single submitter
- c.1074-1G>T Single submitter
- c.(1146+1_1147-1 Single submitter inherited retinal dystrophy
- c.1146+1G>A Single submitter PRPF31-related disorder
- c.1146+1G>T Single submitter PRPF31-related disorder
- c.1147-1G>A Single submitter
- c.1147-1G>T Single submitter
- c.1147-2A>G Single submitter
- c.177+1del Single submitter
- c.(238+1_239-1 Single submitter inherited retinal dystrophy
- c.322+2T>G Single submitter
- c.323-2A>G Single submitter
- c.421-1G>A Single submitter
- c.698-1G>T Single submitter
- c.698-2A>G Single submitter
- c.845_855+1del Single submitter retinitis pigmentosa 11
- c.(855+1_856-1 Single submitter inherited retinal dystrophy
- c.855+1G>A Single submitter
- c.855+1G>T Single submitter retinitis pigmentosa 11
- c.856-1G>A Single submitter retinitis pigmentosa
- p.Ala132fs Single submitter
- p.Ala216fs Single submitter
- p.Ala225fs Single submitter
- p.Ala31fs Single submitter
- p.Ala86_Ala87insTer Single submitter
- p.Arg115fs Single submitter
- p.Arg121fs Single submitter inherited retinal dystrophy
- p.Arg293fs Single submitter inherited retinal dystrophy
- p.Arg360fs Single submitter Early-onset retinitis pigmentosa
- p.Asn131fs Single submitter
- p.Asn152fs Single submitter
- p.Asp386_Ser432delinsProArgSerGlnProProCysArgSerArgAlaSerTrpArgSerTrpProTrpTrpProArgLeuProValSerAlaAlaHisAlaHisCysProThrCysProGlyGlyProGlyTer Single submitter
- p.Asp386fs Single submitter
- p.Cys149fs Single submitter
- p.Cys299Tyr Single submitter PRPF31-related disorder
- p.Gln177Ter Single submitter
- p.Gln409Ter Single submitter inherited retinal dystrophy
- p.Gln411fs Single submitter
- p.Gln429Ter Single submitter
- p.Gln431Ter Single submitter retinitis pigmentosa 11
- p.Gln74fs Single submitter
- p.Glu106fs Single submitter
- p.Glu106Ter Single submitter
- p.Glu12Ter Single submitter PRPF31-related disorder
- p.Glu141Ter Single submitter inherited retinal dystrophy
- p.Glu181Ter Single submitter PRPF31-related disorder
- p.Glu185Ter Single submitter
- p.Glu189Ter Single submitter
- p.Glu18Ter Single submitter
- p.Glu206Ter Single submitter
- p.Glu25fs Single submitter PRPF31-related disorder
- p.Glu319fs Single submitter retinitis pigmentosa
- p.Glu370Ter Single submitter retinitis pigmentosa
- p.Glu382delinsGlyArgSerGlySerArgProThrValTer Single submitter
- p.Glu385Ter Single submitter
- p.Glu85fs Single submitter
- p.Gly317_Tyr318insTer Single submitter retinitis pigmentosa
- p.Gly356fs Single submitter
- p.Gly381fs Single submitter inherited retinal dystrophy
- p.Gly381Ter Single submitter retinitis pigmentosa
- p.Gly45fs Single submitter
- p.Gly82fs Single submitter retinitis pigmentosa
- p.Gly82Ter Single submitter
- p.His111_Ile114del Single submitter retinitis pigmentosa 11
- p.His202fs Single submitter PRPF31-related disorder
- p.His276fs Single submitter
- p.His309fs Single submitter
- p.His398fs Single submitter
- p.Ile110del Single submitter
- p.Ile32fs Single submitter retinitis pigmentosa
- p.Ile383fs Single submitter
- p.Ile51fs Single submitter
- p.Ile93Ter Single submitter
- p.Leu184fs Single submitter
- p.Leu197Pro Single submitter PRPF31-related disorder
- p.Leu219fs Single submitter retinitis pigmentosa
- p.Leu301fs Single submitter
- p.Leu343fs Single submitter
- p.Leu3fs Single submitter inherited retinal dystrophy
- p.Leu8Ter Single submitter
- p.Lys112fs Single submitter retinitis pigmentosa
- p.Lys117fs Single submitter
- p.Lys373fs Single submitter
- p.Lys401Ter Single submitter
- p.Lys422fs Single submitter
- p.Lys76fs Single submitter
- p.Met1Ile Single submitter
- p.Met1Lys Single submitter
- p.Met1Val Single submitter retinitis pigmentosa 11
- p.Met250fs Single submitter
- p.Met59fs Single submitter retinitis pigmentosa 11
- p.Phe214fs Single submitter
- p.Pro30fs Single submitter retinitis pigmentosa
- p.Ser180Ter Single submitter retinitis pigmentosa
- p.Ser266fs Single submitter
- p.Ser277fs Single submitter
- p.Ser402Ter Single submitter
- p.Ser404fs Single submitter
- p.Tyr118fs Single submitter
- p.Tyr207Ter Single submitter
- p.Tyr275Ter Single submitter
- p.Tyr359Ter Single submitter PRPF31-related disorder
- p.Tyr388Ter Single submitter
- p.Val139fs Single submitter
- c.1374+1G>C No assertion criteria inherited retinal dystrophy
- c.178-1G>A No assertion criteria
- p.Ala194Glu No assertion criteria retinitis pigmentosa 11
- p.Ala216Pro No assertion criteria retinitis pigmentosa 11
- p.Arg372fs No assertion criteria retinitis pigmentosa 11
- p.Glu333fs No assertion criteria retinitis pigmentosa
- p.Lys230fs No assertion criteria retinitis pigmentosa
- p.Lys363Ter No assertion criteria inherited retinal dystrophy
- p.Lys53fs No assertion criteria inherited retinal dystrophy
- p.Phe60fs No assertion criteria inherited retinal dystrophy
- p.Thr258fs No assertion criteria retinitis pigmentosa 11
Pathogenic/Likely pathogenic 33
- c.239-1G>A Multiple submitters PRPF31-related disorder
- c.239-1G>T Multiple submitters PRPF31-related disorder
- c.239-2A>G Multiple submitters retinitis pigmentosa
- c.322+1G>A Multiple submitters retinitis pigmentosa
- c.322+4_322+7del Multiple submitters PRPF31-related disorder
- c.323-1G>C Multiple submitters inherited retinal dystrophy
- c.421-1G>T Multiple submitters PRPF31-related disorder
- c.527+1G>A Multiple submitters PRPF31-related disorder
- c.527+3A>G Multiple submitters PRPF31-related disorder
- c.528-39_531del Multiple submitters PRPF31-related disorder
- c.855+2T>C Multiple submitters PRPF31-related disorder
- c.946-2A>G Multiple submitters PRPF31-related disorder
- c.-9+1G>T Multiple submitters retinitis pigmentosa
- p.Ala302Glnfs Multiple submitters retinitis pigmentosa 11
- p.Ala86fs Multiple submitters PRPF31-related disorder
- p.Arg354Ter Multiple submitters PRPF31-related disorder
- p.Arg377fs Multiple submitters inherited retinal dystrophy
- p.Asp56fs Multiple submitters PRPF31-related disorder
- p.Cys299Arg Multiple submitters PRPF31-related disorder
- p.Gln175Ter Multiple submitters PRPF31-related disorder
- p.Gln350Ter Multiple submitters PRPF31-related disorder
- p.Gln374fs Multiple submitters PRPF31-related disorder
- p.Gln389Ter Multiple submitters retinitis pigmentosa
- p.Gln40Ter Multiple submitters inherited retinal dystrophy
- p.Glu69fs Multiple submitters retinitis pigmentosa 11
- p.Gly317fs Multiple submitters retinitis pigmentosa
- p.Leu195fs Multiple submitters retinitis pigmentosa
- p.Lys117Ter Multiple submitters PRPF31-related disorder
- p.Lys488fs Multiple submitters
- p.Met65fs Multiple submitters PRPF31-related disorder
- p.Ser266Ter Multiple submitters PRPF31-related disorder
- p.Trp331Ter Multiple submitters PRPF31-related disorder
- p.Val94fs Multiple submitters retinitis pigmentosa
Likely pathogenic 99
- c.1074-1G>C Multiple submitters retinitis pigmentosa 11
- c.1146+5G>T Multiple submitters inherited retinal dystrophy
- p.Glu102Ter Multiple submitters inherited retinal dystrophy
- p.Glu104Ter Multiple submitters inherited retinal dystrophy
- p.Val305dup Multiple submitters PRPF31-related disorder
- c.1073+1G>T Single submitter retinitis pigmentosa 11
- c.1073+2T>G Single submitter PRPF31-related disorder
- c.1074-11C>G Single submitter PRPF31-related disorder
- c.1074-3C>G Single submitter PRPF31-related disorder
- c.1074-5_1093dup Single submitter PRPF31-related disorder
- c.1074-7_1079del Single submitter
- c.1276-2del Single submitter retinitis pigmentosa 11
- c.177+1G>A Single submitter
- c.177+1G>C Single submitter retinitis pigmentosa 11
- c.238+1_238+7del Single submitter retinitis pigmentosa 11
- c.239-1G>C Single submitter retinitis pigmentosa 11
- c.322+1G>C Single submitter PRPF31-related disorder
- c.420+1G>T Single submitter PRPF31-related disorder
- c.421-19_421-1del Single submitter
- c.520_528-8del Single submitter
- c.527+1G>C Single submitter PRPF31-related disorder
- c.527+3delinsGG Single submitter PRPF31-related disorder
- c.528-2_533del Single submitter PRPF31-related disorder
- c.528-35_531del Single submitter
- c.697+1G>A Single submitter PRPF31-related disorder
- c.698-12_702del Single submitter
- c.698-1G>C Single submitter PRPF31-related disorder
- c.935_945+2del Single submitter PRPF31-related disorder
- c.945+1G>A Single submitter
- c.945+2T>G Single submitter retinitis pigmentosa 11
- c.946-2A>C Single submitter
- c.946-8_1069del Single submitter
- c.-9+1G>A Single submitter retinitis pigmentosa 11
- p.Ala194fs Single submitter PRPF31-related disorder
- p.Ala246fs Single submitter PRPF31-related disorder
- p.Ala303Asp Single submitter inherited retinal dystrophy
- p.Ala345fs Single submitter inherited retinal dystrophy
- p.Asn248fs Single submitter
- p.Asp306Asn Single submitter PRPF31-related disorder
- p.Asp306fs Single submitter PRPF31-related disorder
- p.Asp46fs Single submitter retinitis pigmentosa 11
- p.Gln332fs Single submitter PRPF31-related disorder
- p.Gln36Ter Single submitter PRPF31-related disorder
- p.Glu126Ter Single submitter PRPF31-related disorder
- p.Glu183Ter Single submitter PRPF31-related disorder
- p.Glu185fs Single submitter retinitis pigmentosa 11
- p.Glu27fs Single submitter retinitis pigmentosa 11
- p.Glu333Ter Single submitter PRPF31-related disorder
- p.Glu364fs Single submitter PRPF31-related disorder
- p.Glu370fs Single submitter PRPF31-related disorder
- p.Glu382Ter Single submitter retinitis pigmentosa 11
- p.Glu62Ter Single submitter PRPF31-related disorder
- p.Glu89fs Single submitter retinitis pigmentosa 11
- p.Glu89Ter Single submitter inherited retinal dystrophy
- p.His270fs Single submitter PRPF31-related disorder
- p.Ile204fs Single submitter PRPF31-related disorder
- p.Ile67fs Single submitter retinitis pigmentosa 11
- p.Leu107Val Single submitter PRPF31-related disorder ⚠
- p.Leu125Pro Single submitter PRPF31-related disorder
- p.Leu133fs Single submitter PRPF31-related disorder
- p.Leu179fs Single submitter retinitis pigmentosa
- p.Leu366fs Single submitter retinitis pigmentosa
- p.Leu54fs Single submitter PRPF31-related disorder
- p.Leu8fs Single submitter retinitis pigmentosa 11
- p.Lys150fs Single submitter PRPF31-related disorder
- p.Lys341fs Single submitter PRPF31-related disorder
- p.Lys401fs Single submitter PRPF31-related disorder
- p.Lys470fs Single submitter PRPF31-related disorder
- p.Met212fs Single submitter retinitis pigmentosa 11
- p.Met244fs Single submitter PRPF31-related disorder
- p.Pro123_Glu124insTer Single submitter retinitis pigmentosa 11
- p.Pro285fs Single submitter PRPF31-related disorder
- p.Pro335fs Single submitter PRPF31-related disorder
- p.Ser22fs Single submitter PRPF31-related disorder
- p.Tyr118Ter Single submitter PRPF31-related disorder
- p.Tyr435Ter Single submitter retinitis pigmentosa 11
- p.Val267fs Single submitter retinitis pigmentosa 11
- p.Val305fs Single submitter retinitis pigmentosa 11
- p.Val407fs Single submitter retinitis pigmentosa 11
- p.Val80fs Single submitter PRPF31-related disorder
- c.1147-153_1196del No assertion criteria retinitis pigmentosa
- c.1374+569C>G No assertion criteria retinitis pigmentosa 11
- c.421-58_434del No assertion criteria inherited retinal dystrophy
- c.528-41_528-9del No assertion criteria inherited retinal dystrophy
- c.(?_-1 No assertion criteria retinitis pigmentosa
- p.Ala216Thr No assertion criteria inherited retinal dystrophy
- p.Asp134fs No assertion criteria inherited retinal dystrophy
- p.Gln255Leu No assertion criteria retinitis pigmentosa ⚠
- p.Gln281fs No assertion criteria retinitis pigmentosa
- p.Gln332Ter No assertion criteria inherited retinal dystrophy
- p.Gln411_Val412insTer No assertion criteria retinitis pigmentosa
- p.Glu188Ter No assertion criteria retinitis pigmentosa
- p.Glu323Ter No assertion criteria inherited retinal dystrophy
- p.Ile223del No assertion criteria retinitis pigmentosa
- p.Ile371fs No assertion criteria retinitis pigmentosa 11
- p.Lys321Ter No assertion criteria retinitis pigmentosa
- p.Met1Leu No assertion criteria retinitis pigmentosa
- p.Ser47Ter No assertion criteria retinitis pigmentosa 11
- p.Val434fs No assertion criteria inherited retinal dystrophy
Conflicting classifications of pathogenicity 59
- c.1073+17G>C Single submitter
- c.1073+5G>A Single submitter retinal disorder
- c.1146+2T>G Single submitter retinitis pigmentosa 11 ⚠
- c.1147-5C>G Single submitter retinitis pigmentosa
- c.1373_1374+40del Single submitter PRPF31-related disorder
- c.1374+9C>T Single submitter
- c.177+4A>T Single submitter retinitis pigmentosa
- c.177+7G>A Single submitter retinitis pigmentosa
- c.239-12G>A Single submitter retinitis pigmentosa
- c.322+11G>A Single submitter
- c.322+5G>A Single submitter inherited retinal dystrophy
- c.420+11A>G Single submitter retinitis pigmentosa
- c.421-9C>T Single submitter retinitis pigmentosa
- c.527+9G>T Single submitter retinitis pigmentosa
- c.697+10C>T Single submitter retinitis pigmentosa
- c.855+12G>A Single submitter retinitis pigmentosa
- c.855+14G>A Single submitter retinitis pigmentosa
- c.855+5G>A Single submitter retinitis pigmentosa 11
- c.945+19G>C Single submitter
- c.946-12C>A Single submitter PRPF31-related disorder
- c.*9G>A Single submitter retinitis pigmentosa
- p.Ala194= Single submitter retinitis pigmentosa
- p.Ala199Thr Single submitter Inborn genetic diseases ⚠
- p.Ala228Pro Single submitter PRPF31-related disorder ⚠
- p.Ala229del Single submitter PRPF31-related disorder
- p.Ala375Pro Single submitter PRPF31-related disorder ⚠
- p.Arg186Trp Single submitter
- p.Arg304Cys Single submitter PRPF31-related disorder ⚠
- p.Arg377Gly Single submitter PRPF31-related disorder ⚠
- p.Arg406Gly Single submitter Inborn genetic diseases ⚠
- p.Arg91Cys Single submitter Inborn genetic diseases
- p.Arg91His Single submitter inherited retinal dystrophy ⚠
- p.Asn131Ser Single submitter ⚠
- p.Asn198= Single submitter retinitis pigmentosa
- p.Asn413= Single submitter inherited retinal dystrophy
- p.Asp192Asn Single submitter Inborn genetic diseases ⚠
- p.Asp46= Single submitter inherited retinal dystrophy
- p.Gln425His Single submitter retinitis pigmentosa ⚠
- p.Glu69= Single submitter retinitis pigmentosa
- p.Gly143= Single submitter retinitis pigmentosa
- p.Gly176= Single submitter Inborn genetic diseases
- p.Gly272Val Single submitter PRPF31-related disorder ⚠
- p.Ile222Val Single submitter Inborn genetic diseases ⚠
- p.Ile274Ser Single submitter PRPF31-related disorder ⚠
- p.Ile274Thr Single submitter retinitis pigmentosa ⚠
- p.Ile279= Single submitter inherited retinal dystrophy
- p.Leu219Met Single submitter Inborn genetic diseases ⚠
- p.Lys140Asn Single submitter retinitis pigmentosa ⚠
- p.Met65Lys Single submitter ⚠
- p.Phe380= Single submitter retinitis pigmentosa 11
- p.Phe380Leu Single submitter PRPF31-related disorder ⚠
- p.Pro342= Single submitter inherited retinal dystrophy
- p.Ser180= Single submitter
- p.Ser263= Single submitter Inborn genetic diseases
- p.Ser307= Single submitter retinitis pigmentosa
- p.Thr170= Single submitter retinitis pigmentosa
- p.Thr312Ile Single submitter retinitis pigmentosa 11 ⚠
- p.Thr50Ile Single submitter retinitis pigmentosa ⚠
- p.Val84Ala Single submitter retinitis pigmentosa 11 ⚠
Benign 23
- c.1147-9= Multiple submitters retinitis pigmentosa
- c.239-13C>T Multiple submitters retinitis pigmentosa
- c.323-111C>T Multiple submitters
- c.420+81T>C Multiple submitters
- c.420+82= Multiple submitters
- c.697+165= Multiple submitters
- c.855+40G>A Multiple submitters
- c.946-67G>A Multiple submitters
- c.946-72G>T Multiple submitters
- c.-9+14= Multiple submitters retinitis pigmentosa
- p.Glu188= Multiple submitters retinitis pigmentosa
- p.Leu366= Multiple submitters inherited retinal dystrophy
- p.Pro245= Multiple submitters retinitis pigmentosa 11
- p.Thr410= Multiple submitters inherited retinal dystrophy
- p.Val305= Multiple submitters
- p.Val434= Multiple submitters retinitis pigmentosa
- p.Val472= Multiple submitters retinitis pigmentosa
- p.Val489= Multiple submitters inherited retinal dystrophy
- c.1147-4dup Single submitter
- c.*19G>A Single submitter retinitis pigmentosa
- c.*46G>A Single submitter retinitis pigmentosa
- c.*7G>A Single submitter
- p.Glu390= Single submitter inherited retinal dystrophy
Benign/Likely benign 16
- c.1074-16A>C Multiple submitters
- c.1147-18G>A Multiple submitters
- c.1147-6C>G Multiple submitters
- c.322+20C>T Multiple submitters
- c.420+7G>A Multiple submitters retinitis pigmentosa 11
- c.945+8G>A Multiple submitters
- c.946-12C>T Multiple submitters
- c.946-14dup Multiple submitters
- c.*152G>A Multiple submitters retinitis pigmentosa
- p.Ala235= Multiple submitters
- p.Asp386= Multiple submitters inherited retinal dystrophy
- p.Gln374= Multiple submitters
- p.Leu487= Multiple submitters
- p.Ser402= Multiple submitters inherited retinal dystrophy
- p.Thr138= Multiple submitters inherited retinal dystrophy
- p.Thr440= Multiple submitters retinitis pigmentosa
Likely benign 213
- c.1073+20C>T Multiple submitters
- c.1074-20G>A Multiple submitters
- c.1074-6C>A Multiple submitters retinitis pigmentosa
- c.1146+16C>T Multiple submitters
- c.1146+17G>A Multiple submitters
- c.1147-5C>T Multiple submitters
- c.1275+13C>T Multiple submitters
- c.1374+16C>T Multiple submitters
- c.1374+17G>A Multiple submitters
- c.1374+8C>T Multiple submitters
- c.178-19G>C Multiple submitters
- c.239-7C>T Multiple submitters
- c.323-11G>A Multiple submitters
- c.323-12C>T Multiple submitters
- c.421-8G>A Multiple submitters
- c.527+13C>T Multiple submitters
- c.527+8C>T Multiple submitters
- c.527+9G>A Multiple submitters
- c.528-10G>A Multiple submitters
- c.528-8C>T Multiple submitters
- c.528-9C>T Multiple submitters
- c.698-18C>T Multiple submitters
- c.855+13C>T Multiple submitters
- c.856-12C>T Multiple submitters
- c.856-18C>T Multiple submitters
- c.946-11G>A Multiple submitters
- c.946-5C>T Multiple submitters
- p.Ala228= Multiple submitters inherited retinal dystrophy
- p.Ala296= Multiple submitters
- p.Ala31= Multiple submitters
- p.Ala467= Multiple submitters
- p.Ala75= Multiple submitters
- p.Ala87= Multiple submitters
- p.Arg377= Multiple submitters
- p.Arg442= Multiple submitters
- p.Arg91= Multiple submitters
- p.Asn152= Multiple submitters
- p.Asp322= Multiple submitters
- p.Gly236= Multiple submitters
- p.Gly355= Multiple submitters
- p.Gly367= Multiple submitters
- p.Gly491= Multiple submitters
- p.His309= Multiple submitters
- p.Ile223= Multiple submitters
- p.Ile32= Multiple submitters inherited retinal dystrophy
- p.Ile383= Multiple submitters inherited retinal dystrophy
- p.Ile93= Multiple submitters
- p.Leu184= Multiple submitters
- p.Leu252= Multiple submitters
- p.Leu460= Multiple submitters
- p.Lys361= Multiple submitters
- p.Pro334= Multiple submitters
- p.Pro335= Multiple submitters
- p.Ser210= Multiple submitters
- p.Ser260= Multiple submitters
- p.Ser44= Multiple submitters
- p.Thr227= Multiple submitters inherited retinal dystrophy
- p.Thr271= Multiple submitters
- p.Thr300= Multiple submitters
- p.Thr448= Multiple submitters
- p.Tyr318= Multiple submitters
- p.Val433= Multiple submitters
- c.1073+11C>A Single submitter
- c.1073+12_1073+13del Single submitter
- c.1073+16G>T Single submitter
- c.1073+19C>A Single submitter
- c.1073+8G>A Single submitter
- c.1073+9C>T Single submitter
- c.1074-12A>C Single submitter
- c.1074-20_1074-19insGGCC Single submitter
- c.1074-8_1074-7del Single submitter
- c.1074-9C>T Single submitter
- c.1146+15G>A Single submitter
- c.1146+19C>T Single submitter
- c.1147-11C>T Single submitter
- c.1147-15T>C Single submitter
- c.1147-19C>G Single submitter
- c.1147-19C>T Single submitter
- c.1147-20G>A Single submitter
- c.1147-3T>C Single submitter
- c.1147-4del Single submitter
- c.1147-5C>A Single submitter
- c.1275+11G>C Single submitter
- c.1275+13C>G Single submitter
- c.1275+18G>A Single submitter
- c.1275+43A>G Single submitter
- c.1276-15C>T Single submitter
- c.1276-17C>T Single submitter
- c.1276-40G>C Single submitter
- c.1276-6C>T Single submitter
- c.1374+15C>T Single submitter
- c.1374+18G>C Single submitter
- c.1374+638GGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCA[3] Single submitter
- c.1374+642G>A Single submitter
- c.1374+662G>A Single submitter
- c.1374+665G>A Single submitter
- c.1374+667C>T Single submitter
- c.177+11A>G Single submitter
- c.177+18G>C Single submitter
- c.178-11C>G Single submitter
- c.178-12C>G Single submitter
- c.178-8T>C Single submitter
- c.238+16C>T Single submitter
- c.238+18G>C Single submitter
- c.239-17C>A Single submitter
- c.239-17C>T Single submitter
- c.239-8C>A Single submitter
- c.322+14G>A Single submitter
- c.322+15dup Single submitter
- c.322+15G>A Single submitter
- c.322+16C>T Single submitter
- c.323-12C>G Single submitter
- c.323-20T>A Single submitter
- c.323-8T>A Single submitter
- c.323-8T>C Single submitter
- c.420+11A>C Single submitter
- c.420+6C>T Single submitter
- c.420+7G>C Single submitter
- c.421-5C>T Single submitter
- c.527+14G>C Single submitter
- c.528-11C>T Single submitter
- c.528-12C>T Single submitter
- c.697+11G>A Single submitter
- c.698-16C>T Single submitter
- c.698-4G>A Single submitter
- c.698-5C>T Single submitter
- c.855+9A>G Single submitter
- c.856-10G>A Single submitter
- c.856-11C>T Single submitter
- c.856-15T>C Single submitter
- c.856-17G>A Single submitter
- c.945+16T>A Single submitter
- c.946-11_946-10delinsCA Single submitter
- c.946-18C>T Single submitter
- c.946-20C>T Single submitter
- c.946-23_946-13del Single submitter
- c.946-9C>T Single submitter
- c.-21G>T Single submitter retinitis pigmentosa
- c.-3G>A Single submitter
- c.-4C>T Single submitter
- c.*151C>A Single submitter retinitis pigmentosa
- c.*154C>T Single submitter retinitis pigmentosa
- c.*8C>T Single submitter
- p.Ala14= Single submitter
- p.Ala15= Single submitter
- p.Ala291= Single submitter
- p.Ala475= Single submitter
- p.Ala484= Single submitter
- p.Ala86= Single submitter
- p.Arg256= Single submitter
- p.Arg288= Single submitter
- p.Arg293= Single submitter
- p.Arg351= Single submitter
- p.Asn105= Single submitter
- p.Asn154= Single submitter
- p.Asp56= Single submitter
- p.Cys191= Single submitter
- p.Gln466= Single submitter
- p.Glu16= Single submitter
- p.Glu182= Single submitter
- p.Glu37= Single submitter
- p.Glu6= Single submitter
- p.Gly237= Single submitter
- p.Gly356= Single submitter
- p.Gly436= Single submitter
- p.His270= Single submitter
- p.Ile103= Single submitter
- p.Ile215= Single submitter
- p.Ile221= Single submitter
- p.Ile67= Single submitter
- p.Leu11= Single submitter
- p.Leu128= Single submitter
- p.Leu159= Single submitter
- p.Leu197= Single submitter
- p.Leu268= Single submitter
- p.Leu287= Single submitter
- p.Leu320= Single submitter
- p.Leu343= Single submitter
- p.Leu396= Single submitter
- p.Leu7= Single submitter
- p.Leu8= Single submitter
- p.Lys117= Single submitter
- p.Lys150= Single submitter
- p.Lys290= Single submitter
- p.Lys341= Single submitter
- p.Lys401= Single submitter
- p.Phe328= Single submitter
- p.Phe60= Single submitter
- p.Pro30= Single submitter
- p.Ser220= Single submitter
- p.Ser264= Single submitter inherited retinal dystrophy
- p.Ser282= Single submitter
- p.Ser395= Single submitter
- p.Ser432= Single submitter
- p.Ser446= Single submitter
- p.Ser451= Single submitter
- p.Ser47= Single submitter
- p.Ser481= Single submitter
- p.Thr100= Single submitter
- p.Thr258= Single submitter
- p.Thr369= Single submitter
- p.Thr416= Single submitter
- p.Thr427= Single submitter
- p.Tyr135= Single submitter
- p.Tyr205= Single submitter
- p.Tyr23= Single submitter inherited retinal dystrophy
- p.Val129= Single submitter
- p.Val166= Single submitter
- p.Val234= Single submitter
- p.Val267= Single submitter
- p.Val407= Single submitter
- p.Val94= Single submitter
- c.-349delC No assertion criteria PRPF31-related disorder
Uncertain significance 256
- c.1146+5_1146+6del Multiple submitters
- c.*197G>C Multiple submitters retinitis pigmentosa
- p.Ala171Thr Multiple submitters ⚠
- p.Ala235Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala246Thr Multiple submitters ⚠
- p.Ala254Thr Multiple submitters Inborn genetic diseases
- p.Ala297Thr Multiple submitters ⚠
- p.Ala345Val Multiple submitters ⚠
- p.Ala415Thr Multiple submitters ⚠
- p.Ala484Gly Multiple submitters ⚠
- p.Ala61Gly Multiple submitters ⚠
- p.Ala87Val Multiple submitters ⚠
- p.Arg186Gln Multiple submitters retinitis pigmentosa ⚠
- p.Arg211Gln Multiple submitters retinitis pigmentosa 11 ⚠
- p.Arg256His Multiple submitters ⚠
- p.Arg289Gln Multiple submitters ⚠
- p.Arg304His Multiple submitters ⚠
- p.Arg326Cys Multiple submitters retinitis pigmentosa ⚠
- p.Arg357Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg372Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg372Trp Multiple submitters ⚠
- p.Arg406His Multiple submitters ⚠
- p.Arg408Trp Multiple submitters retinitis pigmentosa ⚠
- p.Arg442His Multiple submitters Inborn genetic diseases ⚠
- p.Asn218Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn240His Multiple submitters Inborn genetic diseases ⚠
- p.Asp286His Multiple submitters ⚠
- p.Asp42Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln36Arg Multiple submitters retinitis pigmentosa ⚠
- p.Gln374Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gln74Glu Multiple submitters ⚠
- p.Glu182Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu189del Multiple submitters
- p.Glu38Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly236Ser Multiple submitters retinitis pigmentosa ⚠
- p.Ile215Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile249Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile274Asn Multiple submitters ⚠
- p.Ile279Ser Multiple submitters ⚠
- p.Leu125Val Multiple submitters inherited retinal dystrophy ⚠
- p.Leu184del Multiple submitters
- p.Leu195Pro Multiple submitters ⚠
- p.Leu396Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys148Glu Multiple submitters ⚠
- p.Lys298Arg Multiple submitters retinitis pigmentosa 11 ⚠
- p.Lys315Glu Multiple submitters Inborn genetic diseases ⚠
- p.Phe308Cys Multiple submitters Inborn genetic diseases ⚠
- p.Pro269Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro285= Multiple submitters
- p.Pro83Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ser277Arg Multiple submitters ⚠
- p.Ser402Leu Multiple submitters ⚠
- p.Ser445Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser446Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser494Gly Multiple submitters inherited retinal dystrophy ⚠
- p.Thr239Ile Multiple submitters ⚠
- p.Thr258Met Multiple submitters ⚠
- p.Thr423Met Multiple submitters retinitis pigmentosa 11 ⚠
- p.Val101Met Multiple submitters ⚠
- p.Val139= Multiple submitters
- p.Val169Ile Multiple submitters ⚠
- p.Val280Met Multiple submitters ⚠
- p.Val433Ile Multiple submitters retinitis pigmentosa ⚠
- p.Val92Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val94Met Multiple submitters ⚠
- c.1074-15C>G Single submitter
- c.1146+5G>C Single submitter
- c.1147-9C>G Single submitter retinitis pigmentosa
- c.1275+6G>A Single submitter
- c.1276-4A>C Single submitter
- c.1344_1374+378del Single submitter
- c.1374+505C>T Single submitter retinitis pigmentosa 11
- c.1374+5C>T Single submitter
- c.1374+657A>G Single submitter
- c.177+3_177+17del Single submitter
- c.239-3C>G Single submitter
- c.239-6_239-3del Single submitter
- c.323-3T>C Single submitter
- c.527+2dup Single submitter
- c.528-3C>T Single submitter
- c.698-12_702delinsA Single submitter
- c.855+5G>C Single submitter
- c.856-20C>G Single submitter
- c.856-3C>G Single submitter
- c.856-7G>T Single submitter
- c.945+4A>G Single submitter retinitis pigmentosa
- c.946-344C>T Single submitter retinitis pigmentosa 11
- c.946-3C>A Single submitter
- c.946-3C>G Single submitter
- c.-1G>C Single submitter
- c.-32A>C Single submitter retinitis pigmentosa
- c.-6C>A Single submitter
- c.-9+3G>A Single submitter retinitis pigmentosa
- c.*152G>T Single submitter retinitis pigmentosa
- c.*190T>C Single submitter retinitis pigmentosa
- c.*4_*7del Single submitter
- c.*63G>T Single submitter retinitis pigmentosa
- p.Ala194Val Single submitter ⚠
- p.Ala246Ser Single submitter ⚠
- p.Ala254Ser Single submitter ⚠
- p.Ala291Pro Single submitter ⚠
- p.Ala296Asp Single submitter ⚠
- p.Ala296Thr Single submitter ⚠
- p.Ala297del Single submitter
- p.Ala31Val Single submitter ⚠
- p.Ala345= Single submitter inherited retinal dystrophy
- p.Ala375Gly Single submitter ⚠
- p.Ala387Ser Single submitter inherited retinal dystrophy ⚠
- p.Ala453Asp Single submitter ⚠
- p.Ala467fs Single submitter
- p.Ala484Thr Single submitter
- p.Ala75Asp Single submitter ⚠
- p.Arg137Cys Single submitter ⚠
- p.Arg186Leu Single submitter ⚠
- p.Arg203Cys Single submitter
- p.Arg288Gln Single submitter ⚠
- p.Arg289Trp Single submitter ⚠
- p.Arg293Gln Single submitter ⚠
- p.Arg293Trp Single submitter ⚠
- p.Arg354Leu Single submitter ⚠
- p.Arg357Leu Single submitter ⚠
- p.Arg358= Single submitter
- p.Arg358Ser Single submitter ⚠
- p.Arg365Trp Single submitter ⚠
- p.Arg377His Single submitter ⚠
- p.Arg377Leu Single submitter ⚠
- p.Arg406Cys Single submitter ⚠
- p.Arg408= Single submitter
- p.Arg408Gln Single submitter ⚠
- p.Arg419Lys Single submitter
- p.Arg442Cys Single submitter Inborn genetic diseases ⚠
- p.Arg444= Single submitter inherited retinal dystrophy
- p.Arg91Gly Single submitter Inborn genetic diseases ⚠
- p.Asn154Lys Single submitter ⚠
- p.Asn218Lys Single submitter ⚠
- p.Asn376Ser Single submitter Inborn genetic diseases ⚠
- p.Asp116Gly Single submitter inherited retinal dystrophy ⚠
- p.Asp278Asn Single submitter ⚠
- p.Asp286Tyr Single submitter inherited retinal dystrophy ⚠
- p.Asp306Gly Single submitter ⚠
- p.Asp329Asn Single submitter ⚠
- p.Asp46Asn Single submitter ⚠
- p.Gln177Glu Single submitter ⚠
- p.Gln374_Ala375insGluIleArgLysGln Single submitter
- p.Gln374_Glu382del Single submitter
- p.Gln477Pro Single submitter
- p.Glu106Lys Single submitter ⚠
- p.Glu185Val Single submitter ⚠
- p.Glu188Gln Single submitter ⚠
- p.Glu188Lys Single submitter ⚠
- p.Glu19Lys Single submitter ⚠
- p.Glu206Lys Single submitter Inborn genetic diseases ⚠
- p.Glu28Lys Single submitter ⚠
- p.Glu29Gln Single submitter ⚠
- p.Glu310Lys Single submitter ⚠
- p.Glu319Gln Single submitter inherited retinal dystrophy ⚠
- p.Glu319Val Single submitter ⚠
- p.Glu323Lys Single submitter ⚠
- p.Glu370_Ala375del Single submitter
- p.Glu382Asp Single submitter inherited retinal dystrophy ⚠
- p.Gly176Arg Single submitter ⚠
- p.Gly21Arg Single submitter ⚠
- p.Gly224Arg Single submitter ⚠
- p.Gly237Val Single submitter ⚠
- p.Gly24Ala Single submitter Inborn genetic diseases ⚠
- p.Gly24Arg Single submitter ⚠
- p.Gly253Arg Single submitter ⚠
- p.Gly317Ser Single submitter ⚠
- p.Gly356Ser Single submitter retinitis pigmentosa 11 ⚠
- p.Gly437Arg Single submitter Inborn genetic diseases ⚠
- p.Gly491Ser Single submitter ⚠
- p.His111Arg Single submitter ⚠
- p.His270Asp Single submitter ⚠
- p.Ile109Val Single submitter ⚠
- p.Ile110Asn Single submitter ⚠
- p.Ile231Met Single submitter ⚠
- p.Ile249Phe Single submitter ⚠
- p.Ile324Asn Single submitter ⚠
- p.Ile462Thr Single submitter ⚠
- p.Ile63Thr Single submitter ⚠
- p.Leu107= Single submitter
- p.Leu146Pro Single submitter ⚠
- p.Leu155Val Single submitter ⚠
- p.Leu195Val Single submitter ⚠
- p.Leu238Pro Single submitter ⚠
- p.Leu251Pro Single submitter ⚠
- p.Leu301Pro Single submitter ⚠
- p.Leu320Met Single submitter
- p.Leu320Pro Single submitter retinitis pigmentosa 11 ⚠
- p.Leu399Gln Single submitter ⚠
- p.Leu41Val Single submitter inherited retinal dystrophy ⚠
- p.Lys243Arg Single submitter Inborn genetic diseases ⚠
- p.Lys290Asn Single submitter ⚠
- p.Lys361_Arg365del Single submitter
- p.Lys401Arg Single submitter ⚠
- p.Lys470Asn Single submitter ⚠
- p.Lys478Arg Single submitter ⚠
- p.Lys73Glu Single submitter ⚠
- p.Met193_Ala194insGluLeuGluArgLeuGluGluAlaCysAspMet Single submitter retinitis pigmentosa 11
- p.Met193Val Single submitter Inborn genetic diseases ⚠
- p.Met212Val Single submitter ⚠
- p.Met250Val Single submitter
- p.Met378_Ser379insTyrArgLysMetLysGluArgLeuGlyLeuThrGluIleArgLysGlnAlaAsnArgMet Single submitter
- p.Met378Leu Single submitter ⚠
- p.Met81Val Single submitter ⚠
- p.Pro130Leu Single submitter ⚠
- p.Pro217Thr Single submitter ⚠
- p.Pro284Ser Single submitter retinitis pigmentosa 11 ⚠
- p.Pro30Leu Single submitter retinitis pigmentosa 11 ⚠
- p.Pro30Ser Single submitter ⚠
- p.Pro334Leu Single submitter ⚠
- p.Pro335_Pro336del Single submitter
- p.Pro335Leu Single submitter ⚠
- p.Pro88Arg Single submitter ⚠
- p.Ser168= Single submitter retinitis pigmentosa
- p.Ser180Leu Single submitter ⚠
- p.Ser242Pro Single submitter ⚠
- p.Ser242Thr Single submitter Inborn genetic diseases ⚠
- p.Ser260Leu Single submitter
- p.Ser263Leu Single submitter ⚠
- p.Ser2Cys Single submitter ⚠
- p.Ser307Asn Single submitter Inborn genetic diseases ⚠
- p.Ser307Gly Single submitter
- p.Ser432Asn Single submitter ⚠
- p.Ser482Asn Single submitter ⚠
- p.Ter500Leu Single submitter
- p.Ter500Ser Single submitter inherited retinal dystrophy
- p.Thr138Arg Single submitter ⚠
- p.Thr138Lys Single submitter ⚠
- p.Thr160Ser Single submitter ⚠
- p.Thr170Ala Single submitter ⚠
- p.Thr170Ile Single submitter retinitis pigmentosa ⚠
- p.Thr440fs Single submitter
- p.Thr499Ser Single submitter ⚠
- p.Tyr205del Single submitter inherited retinal dystrophy
- p.Tyr205Phe Single submitter
- p.Tyr23Cys Single submitter retinitis pigmentosa 11 ⚠
- p.Tyr435Cys Single submitter ⚠
- p.Tyr70Cys Single submitter ⚠
- p.Val295Leu Single submitter Inborn genetic diseases ⚠
- p.Val295Met Single submitter ⚠
- p.Val305_Ser307del Single submitter
- p.Val316Leu Single submitter ⚠
- p.Val337_Pro344del Single submitter
- p.Val412Ala Single submitter ⚠
- p.Val434Ile Single submitter ⚠
- p.Val92Phe Single submitter ⚠
- p.Arg115Pro No assertion criteria retinitis pigmentosa 11 ⚠
- p.Asp306Ala No assertion criteria ⚠
- p.Gly381Arg No assertion criteria inherited retinal dystrophy ⚠
- p.Ile114Asn No assertion criteria inherited retinal dystrophy ⚠
- p.Leu241Pro No assertion criteria inherited retinal dystrophy ⚠
- p.Met232Arg No assertion criteria inherited retinal dystrophy ⚠
- p.Pro336Arg No assertion criteria retinitis pigmentosa 11 ⚠
- p.Ser446Pro No assertion criteria Leber congenital amaurosis ⚠
- p.Thr265Ala No assertion criteria inherited retinal dystrophy ⚠