PRPF4 — 411 ClinVar variants
All ClinVar germline PRPF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 180 flagged for review →
2 Likely pathogenic · 13 Conflicting · 4 Benign · 15 Benign/Likely benign · 159 Likely benign · 218 Uncertain significance
Full PRPF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 180
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 138
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRPF4 p.Ala195Thr Uncertain significance Multiple submitters
- PRPF4 p.Ala299Val Uncertain significance Multiple submitters
- PRPF4 p.Arg438Trp Uncertain significance Multiple submitters
- PRPF4 p.Asn241Ser Uncertain significance Multiple submitters
- PRPF4 p.Asn274Ser Uncertain significance Multiple submitters
- PRPF4 p.Asn99Ser Uncertain significance Multiple submitters
- PRPF4 p.Asp375Val Uncertain significance Multiple submitters
- PRPF4 p.Glu457Gln Uncertain significance Multiple submitters
- PRPF4 p.Glu80Gln Uncertain significance Multiple submitters
- PRPF4 p.Gly48Ala Uncertain significance Multiple submitters
- PRPF4 p.Ile499Val Uncertain significance Multiple submitters
- PRPF4 p.Lys291Glu Uncertain significance Multiple submitters
- PRPF4 p.Lys455Asn Uncertain significance Multiple submitters
- PRPF4 p.Met365Leu Uncertain significance Multiple submitters
- PRPF4 p.Pro260Ala Uncertain significance Multiple submitters
- PRPF4 p.Ser157Ala Uncertain significance Multiple submitters
- PRPF4 p.Thr322Ile Uncertain significance Multiple submitters
- PRPF4 p.Tyr368His Uncertain significance Multiple submitters
- PRPF4 p.Val24Leu Uncertain significance Multiple submitters
- PRPF4 p.Val304Met Uncertain significance Multiple submitters
- PRPF4 p.Val441Ile Uncertain significance Multiple submitters
- PRPF4 p.Ala248Val Uncertain significance Single submitter
- PRPF4 p.Ala299Glu Uncertain significance Single submitter
- PRPF4 p.Ala2Thr Uncertain significance Single submitter
- PRPF4 p.Ala446Pro Uncertain significance Single submitter
- PRPF4 p.Ala520Val Uncertain significance Single submitter
- PRPF4 p.Ala57Val Uncertain significance Single submitter
- PRPF4 p.Ala6Val Uncertain significance Single submitter
- PRPF4 p.Arg191His Uncertain significance Single submitter
- PRPF4 p.Arg218Gln Uncertain significance Single submitter
- PRPF4 p.Arg231Trp Uncertain significance Single submitter
- PRPF4 p.Arg324His Uncertain significance Single submitter
- PRPF4 p.Arg335Cys Uncertain significance Single submitter
- PRPF4 p.Arg344Cys Uncertain significance Single submitter
- PRPF4 p.Arg389Gln Uncertain significance Single submitter
- PRPF4 p.Arg39Lys Uncertain significance Single submitter
- PRPF4 p.Arg438Gln Uncertain significance Single submitter
- PRPF4 p.Arg81Gln Uncertain significance Single submitter
- PRPF4 p.Asn263Lys Uncertain significance Single submitter
- PRPF4 p.Asn413Ser Uncertain significance Single submitter
- PRPF4 p.Asn65Ser Uncertain significance Single submitter
- PRPF4 p.Asp142Asn Uncertain significance Single submitter
- PRPF4 p.Asp17Asn Uncertain significance Single submitter
- PRPF4 p.Asp18Asn Uncertain significance Single submitter
- PRPF4 p.Asp229Asn Uncertain significance Single submitter
- PRPF4 p.Asp230Glu Uncertain significance Single submitter
- PRPF4 p.Asp230Val Uncertain significance Single submitter
- PRPF4 p.Asp261Asn Uncertain significance Single submitter
- PRPF4 p.Asp310Glu Uncertain significance Single submitter
-
PRPF4 p.Asp312Gly
Uncertain significance
Single submitter
retinitis pigmentosa 70
- PRPF4 p.Asp512Gly Uncertain significance Single submitter
- PRPF4 p.Cys262Trp Uncertain significance Single submitter
- PRPF4 p.Cys440Arg Uncertain significance Single submitter
- PRPF4 p.Gln162Arg Uncertain significance Single submitter
- PRPF4 p.Gln162His Uncertain significance Single submitter
- PRPF4 p.Gln209His Uncertain significance Single submitter
- PRPF4 p.Gln354Arg Uncertain significance Single submitter
- PRPF4 p.Glu159Lys Uncertain significance Single submitter
- PRPF4 p.Glu193Lys Uncertain significance Single submitter
- PRPF4 p.Glu36Lys Uncertain significance Single submitter
- PRPF4 p.Glu491Lys Uncertain significance Single submitter
- PRPF4 p.Glu76Asp Uncertain significance Single submitter
- PRPF4 p.Glu80Lys Uncertain significance Single submitter
- PRPF4 p.Gly115Arg Uncertain significance Single submitter
- PRPF4 p.Gly115Trp Uncertain significance Single submitter
- PRPF4 p.Gly270Arg Uncertain significance Single submitter
- PRPF4 p.Gly302Ser Uncertain significance Single submitter
- PRPF4 p.Gly338Cys Uncertain significance Single submitter
- PRPF4 p.Gly362Ser Uncertain significance Single submitter
- PRPF4 p.Gly411Arg Uncertain significance Single submitter
- PRPF4 p.Gly411Glu Uncertain significance Single submitter
- PRPF4 p.Gly467Ala Uncertain significance Single submitter
- PRPF4 p.Gly467Ser Uncertain significance Single submitter
- PRPF4 p.Gly54Arg Uncertain significance Single submitter
- PRPF4 p.Gly54Glu Uncertain significance Single submitter
- PRPF4 p.His198Arg Uncertain significance Single submitter
- PRPF4 p.His266Arg Uncertain significance Single submitter
- PRPF4 p.His460Arg Uncertain significance Single submitter
- PRPF4 p.Ile135Thr Uncertain significance Single submitter
- PRPF4 p.Ile180Leu Uncertain significance Single submitter
- PRPF4 p.Ile233Val Uncertain significance Single submitter
- PRPF4 p.Ile29Leu Uncertain significance Single submitter
- PRPF4 p.Ile29Val Uncertain significance Single submitter
- PRPF4 p.Ile421Val Uncertain significance Single submitter
- PRPF4 p.Ile444Val Uncertain significance Single submitter
- PRPF4 p.Ile475Val Uncertain significance Single submitter
- PRPF4 p.Ile66Val Uncertain significance Single submitter
- PRPF4 p.Leu111Phe Uncertain significance Single submitter
- PRPF4 p.Leu213Pro Uncertain significance Single submitter
- PRPF4 p.Leu220Ser Uncertain significance Single submitter
- PRPF4 p.Leu295Val Uncertain significance Single submitter
- PRPF4 p.Leu435Ile Uncertain significance Single submitter
- PRPF4 p.Leu464Trp Uncertain significance Single submitter
- PRPF4 p.Leu497Val Uncertain significance Single submitter
- PRPF4 p.Leu50Trp Uncertain significance Single submitter
- PRPF4 p.Lys145Arg Uncertain significance Single submitter
- PRPF4 p.Lys148Arg Uncertain significance Single submitter
- PRPF4 p.Lys148Glu Uncertain significance Single submitter
- PRPF4 p.Lys215Arg Uncertain significance Single submitter
- PRPF4 p.Lys493Glu Uncertain significance Single submitter
- PRPF4 p.Met210Lys Uncertain significance Single submitter
- PRPF4 p.Met365Val Uncertain significance Single submitter
- PRPF4 p.Phe414Ile Uncertain significance Single submitter
- PRPF4 p.Phe456Ile Uncertain significance Single submitter
- PRPF4 p.Pro170Ala Uncertain significance Single submitter
- PRPF4 p.Pro202Ala Uncertain significance Single submitter
- PRPF4 p.Pro202Leu Uncertain significance Single submitter
- PRPF4 p.Pro22Leu Uncertain significance Single submitter
- PRPF4 p.Pro22Ser Uncertain significance Single submitter
- PRPF4 p.Pro290Arg Uncertain significance Single submitter
- PRPF4 p.Pro314Arg Uncertain significance Single submitter
- PRPF4 p.Pro314Thr Uncertain significance Single submitter
- PRPF4 p.Pro416Ser Uncertain significance Single submitter
- PRPF4 p.Pro458Ser Uncertain significance Single submitter
- PRPF4 p.Ser137Pro Uncertain significance Single submitter
- PRPF4 p.Ser219Phe Uncertain significance Single submitter
- PRPF4 p.Ser287Phe Uncertain significance Single submitter
- PRPF4 p.Ser482Phe Uncertain significance Single submitter
- PRPF4 p.Ser500Ala Uncertain significance Single submitter
- PRPF4 p.Ser79Gly Uncertain significance Single submitter
- PRPF4 p.Ser8Pro Uncertain significance Single submitter
- PRPF4 p.Thr11Ala Uncertain significance Single submitter
- PRPF4 p.Thr11Ser Uncertain significance Single submitter
- PRPF4 p.Thr340Ser Uncertain significance Single submitter
- PRPF4 p.Thr395Ala Uncertain significance Single submitter
- PRPF4 p.Thr423Ala Uncertain significance Single submitter
- PRPF4 p.Thr477Met Uncertain significance Single submitter
- PRPF4 p.Thr508Ser Uncertain significance Single submitter
- PRPF4 p.Thr9Ala Uncertain significance Single submitter
- PRPF4 p.Trp349Arg Uncertain significance Single submitter
- PRPF4 p.Trp518Cys Uncertain significance Single submitter
- PRPF4 p.Tyr410Cys Uncertain significance Single submitter
- PRPF4 p.Tyr410His Uncertain significance Single submitter
- PRPF4 p.Tyr511Cys Uncertain significance Single submitter
- PRPF4 p.Val20Gly Uncertain significance Single submitter
- PRPF4 p.Val286Asp Uncertain significance Single submitter
-
PRPF4 p.Ala2Val
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
PRPF4 p.Tyr161Cys
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 38
The independent predictors disagree with each other — read with care.
- PRPF4 p.Arg206Ser Uncertain significance Multiple submitters
- PRPF4 p.Arg439Cys Uncertain significance Multiple submitters
- PRPF4 p.Gly140Ser Uncertain significance Multiple submitters
- PRPF4 p.Gly320Asp Uncertain significance Multiple submitters
- PRPF4 p.Phe463Leu Uncertain significance Multiple submitters
- PRPF4 p.Pro186Ala Uncertain significance Multiple submitters
- PRPF4 p.Pro445Thr Uncertain significance Multiple submitters
- PRPF4 p.Thr267Ala Uncertain significance Multiple submitters
- PRPF4 p.Thr423Ser Uncertain significance Multiple submitters
- PRPF4 p.Ala326Val Conflicting Single submitter
- PRPF4 p.Arg327Gln Uncertain significance Single submitter
-
PRPF4 p.Arg41His
Likely pathogenic
Single submitter
PRPF4-related disorder
- PRPF4 p.Arg439His Uncertain significance Single submitter
- PRPF4 p.Asn417Asp Conflicting Single submitter
- PRPF4 p.Asn417Ser Uncertain significance Single submitter
- PRPF4 p.Gln97His Uncertain significance Single submitter
- PRPF4 p.Glu40Gly Conflicting Single submitter
- PRPF4 p.Gly320Ser Uncertain significance Single submitter
- PRPF4 p.Gly383Ala Uncertain significance Single submitter
- PRPF4 p.Gly424Ser Uncertain significance Single submitter
- PRPF4 p.His281Arg Uncertain significance Single submitter
- PRPF4 p.His478Gln Uncertain significance Single submitter
- PRPF4 p.Ile180Met Uncertain significance Single submitter
- PRPF4 p.Ile64Thr Uncertain significance Single submitter
- PRPF4 p.Leu265Phe Uncertain significance Single submitter
- PRPF4 p.Met400Val Uncertain significance Single submitter
- PRPF4 p.Phe463Ile Uncertain significance Single submitter
- PRPF4 p.Pro186Ser Uncertain significance Single submitter
- PRPF4 p.Pro416Arg Uncertain significance Single submitter
- PRPF4 p.Pro458Thr Uncertain significance Single submitter
- PRPF4 p.Ser154Pro Uncertain significance Single submitter
- PRPF4 p.Ser242Cys Uncertain significance Single submitter
- PRPF4 p.Ser364Gly Uncertain significance Single submitter
- PRPF4 p.Ser4Trp Uncertain significance Single submitter
- PRPF4 p.Thr164Ala Uncertain significance Single submitter
- PRPF4 p.Thr267Ile Uncertain significance Single submitter
- PRPF4 p.Thr472Ala Conflicting Single submitter
- PRPF4 p.Tyr419Cys Uncertain significance Single submitter
All PRPF4 variants
Likely pathogenic 2
- p.Pro314Leu Multiple submitters inherited retinal dystrophy
- p.Arg41His Single submitter PRPF4-related disorder ⚠
Conflicting classifications of pathogenicity 13
- c.561-6T>G Single submitter
- p.Ala326Val Single submitter ⚠
- p.Arg397Cys Single submitter ⚠
- p.Asn417Asp Single submitter ⚠
- p.Asp502Asn Single submitter retinitis pigmentosa 70 ⚠
- p.Cys509= Single submitter
- p.Glu40Gly Single submitter ⚠
- p.Glu457= Single submitter
- p.Lys158Asn Single submitter ⚠
- p.Ser3Phe Single submitter ⚠
- p.Thr247Ala Single submitter inherited retinal dystrophy
- p.Thr443Ile Single submitter inherited retinal dystrophy
- p.Thr472Ala Single submitter ⚠
Benign 4
- c.809-8T>C Multiple submitters
- p.His77Arg Multiple submitters
- p.Lys155= Multiple submitters
- c.393-6del Single submitter
Benign/Likely benign 15
- c.1254-20A>G Multiple submitters
- c.1373-12C>T Multiple submitters
- c.205+14T>C Multiple submitters
- c.654+15G>A Multiple submitters
- c.654+18A>G Multiple submitters
- c.655-10del Multiple submitters
- c.655-10dup Multiple submitters
- c.749+16C>A Multiple submitters
- c.809-7C>T Multiple submitters
- p.Ala507= Multiple submitters
- p.Ala6= Multiple submitters
- p.Asn99= Multiple submitters
- p.Ile29= Multiple submitters
- p.Pro483= Multiple submitters
- p.Val139= Multiple submitters
Likely benign 159
- c.1022+11C>T Multiple submitters
- c.1022+17T>C Multiple submitters
- c.1145+12C>T Multiple submitters
- c.1145+15A>G Multiple submitters
- c.1145+17G>A Multiple submitters
- c.1253+19A>G Multiple submitters
- c.27+12G>A Multiple submitters
- c.392+20A>G Multiple submitters
- c.480+19T>C Multiple submitters
- c.561-4G>A Multiple submitters
- c.561-4G>T Multiple submitters
- c.749+18A>G Multiple submitters
- c.750-16C>T Multiple submitters
- c.750-4A>T Multiple submitters
- c.933-12G>A Multiple submitters
- c.933-4C>G Multiple submitters
- c.933-8C>T Multiple submitters
- p.Ala299= Multiple submitters
- p.Ala316= Multiple submitters
- p.Arg206Gly Multiple submitters
- p.Arg397= Multiple submitters
- p.Arg92= Multiple submitters
- p.Asn182= Multiple submitters
- p.Asp310Asn Multiple submitters
- p.His490= Multiple submitters
- p.Ile409= Multiple submitters
- p.Leu178= Multiple submitters
- p.Leu217= Multiple submitters
- p.Leu306= Multiple submitters
- p.Leu50= Multiple submitters
- p.Lys37= Multiple submitters
- p.Ser501= Multiple submitters
- p.Ser79= Multiple submitters
- p.Thr423= Multiple submitters
- p.Thr477= Multiple submitters
- p.Tyr31= Multiple submitters
- c.1022+10C>T Single submitter
- c.1022+13G>A Single submitter
- c.1022+16A>G Single submitter
- c.1022+18T>C Single submitter
- c.1145+11T>A Single submitter
- c.1145+15A>C Single submitter
- c.1146-12T>C Single submitter
- c.1146-20T>C Single submitter
- c.1146-8T>C Single submitter
- c.1253+12_1253+15del Single submitter
- c.1253+13C>T Single submitter
- c.1253+18A>G Single submitter
- c.1253+20T>C Single submitter
- c.1253+7T>C Single submitter
- c.1254-14C>T Single submitter
- c.1372+11C>T Single submitter
- c.1372+14C>G Single submitter
- c.1373-17C>G Single submitter
- c.1373-18C>A Single submitter
- c.1373-20C>T Single submitter
- c.1373-6C>G Single submitter
- c.1373-7C>T Single submitter
- c.205+17G>C Single submitter
- c.205+20C>T Single submitter
- c.206-5A>T Single submitter
- c.27+17C>T Single submitter
- c.27+8G>T Single submitter
- c.28-19C>T Single submitter
- c.28-22A>T Single submitter
- c.28-9A>G Single submitter
- c.392+10C>T Single submitter
- c.392+16A>G Single submitter
- c.392+7T>A Single submitter
- c.392+9T>G Single submitter
- c.393-10T>A Single submitter
- c.393-12T>C Single submitter
- c.393-5A>G Single submitter
- c.393-5A>T Single submitter
- c.393-6T>A Single submitter
- c.480+19T>G Single submitter
- c.481-17C>T Single submitter
- c.481-18T>C Single submitter
- c.481-20G>T Single submitter
- c.560+10G>A Single submitter
- c.560+17G>C Single submitter
- c.560+18T>C Single submitter
- c.560+20G>C Single submitter
- c.561-12T>G Single submitter
- c.561-15G>A Single submitter
- c.561-5C>T Single submitter
- c.561-7G>T Single submitter
- c.655-19T>C Single submitter
- c.655-20G>A Single submitter
- c.749+16C>T Single submitter
- c.750-41A>G Single submitter
- c.808+8_808+14del Single submitter
- c.809-11C>T Single submitter
- c.809-17C>T Single submitter
- c.809-6C>T Single submitter
- c.932+7A>G Single submitter
- c.933-18T>C Single submitter
- c.*20T>C Single submitter
- c.*7A>G Single submitter
- p.Ala143= Single submitter
- p.Ala520= Single submitter
- p.Ala57= Single submitter
- p.Arg196= Single submitter
- p.Arg347= Single submitter
- p.Arg394= Single submitter
- p.Arg439= Single submitter
- p.Arg81= Single submitter
- p.Arg94= Single submitter
- p.Asn134= Single submitter
- p.Asn171= Single submitter
- p.Asn272= Single submitter
- p.Asn471= Single submitter
- p.Asp17= Single submitter
- p.Asp502= Single submitter
- p.Asp53= Single submitter
- p.Cys110= Single submitter
- p.Cys440= Single submitter
- p.Gln163= Single submitter
- p.Gln448= Single submitter
- p.Gln97= Single submitter
- p.Glu152= Single submitter
- p.Glu355= Single submitter
- p.Glu36= Single submitter
- p.Glu361= Single submitter
- p.Glu40= Single submitter
- p.Glu73= Single submitter
- p.Gly252= Single submitter
- p.Gly54= Single submitter
- p.His167= Single submitter
- p.His321= Single submitter
- p.His405= Single submitter
- p.Ile444= Single submitter
- p.Ile459= Single submitter
- p.Leu197= Single submitter
- p.Leu213= Single submitter
- p.Leu265= Single submitter
- p.Leu309= Single submitter
- p.Leu450= Single submitter
- p.Leu487= Single submitter
- p.Lys145= Single submitter
- p.Lys26= Single submitter
- p.Phe121= Single submitter
- p.Phe280= Single submitter
- p.Pro22= Single submitter
- p.Pro332= Single submitter
- p.Ser137= Single submitter
- p.Ser184= Single submitter
- p.Ser208= Single submitter
- p.Ser345= Single submitter
- p.Ser415= Single submitter
- p.Thr11= Single submitter
- p.Thr340= Single submitter
- p.Thr472= Single submitter
- p.Tyr183= Single submitter
- p.Tyr511= Single submitter
- p.Val24= Single submitter
- p.Val304= Single submitter
- p.Val328= Single submitter
- c.-72C>T No assertion criteria PRPF4-related disorder
Uncertain significance 218
- c.654+4A>T Multiple submitters retinitis pigmentosa 70
- p.Ala195Thr Multiple submitters ⚠
- p.Ala299Val Multiple submitters ⚠
- p.Arg206Ser Multiple submitters ⚠
- p.Arg438Trp Multiple submitters ⚠
- p.Arg439Cys Multiple submitters ⚠
- p.Asn241Ser Multiple submitters ⚠
- p.Asn274Ser Multiple submitters ⚠
- p.Asn99Ser Multiple submitters ⚠
- p.Asp375Val Multiple submitters ⚠
- p.Glu457Gln Multiple submitters ⚠
- p.Glu80Gln Multiple submitters ⚠
- p.Gly140Ser Multiple submitters ⚠
- p.Gly320Asp Multiple submitters ⚠
- p.Gly48Ala Multiple submitters ⚠
- p.Ile499Val Multiple submitters ⚠
- p.Lys291Glu Multiple submitters ⚠
- p.Lys455Asn Multiple submitters ⚠
- p.Met365Leu Multiple submitters ⚠
- p.Phe463Leu Multiple submitters ⚠
- p.Pro186Ala Multiple submitters ⚠
- p.Pro260Ala Multiple submitters ⚠
- p.Pro445Thr Multiple submitters ⚠
- p.Ser157Ala Multiple submitters ⚠
- p.Thr267Ala Multiple submitters ⚠
- p.Thr322Ile Multiple submitters ⚠
- p.Thr423Ser Multiple submitters ⚠
- p.Tyr368His Multiple submitters ⚠
- p.Val24Leu Multiple submitters ⚠
- p.Val304Met Multiple submitters ⚠
- p.Val441Ile Multiple submitters ⚠
- c.1022+3G>A Single submitter
- c.1146-11T>C Single submitter
- c.1253+10AC[2] Single submitter
- c.1254-11C>G Single submitter
- c.1372+1G>A Single submitter
- c.205+4A>G Single submitter
- c.206-3T>C Single submitter
- c.28-11T>G Single submitter
- c.28-21T>A Single submitter
- c.28-4G>C Single submitter
- c.392+6C>T Single submitter
- c.481-2A>G Single submitter
- c.560+3A>G Single submitter
- c.560+5A>G Single submitter
- c.561-3C>T Single submitter
- c.654+3A>G Single submitter
- c.654+5G>A Single submitter
- c.654+6A>G Single submitter
- c.654+6del Single submitter
- c.655-3A>G Single submitter
- c.750-11G>A Single submitter retinitis pigmentosa 70
- c.808+4A>C Single submitter
- c.-79C>G Single submitter
- c.-83C>G Single submitter
- p.Ala181Gly Single submitter
- p.Ala246Gly Single submitter
- p.Ala248Val Single submitter ⚠
- p.Ala299Glu Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala446Pro Single submitter ⚠
- p.Ala520Val Single submitter ⚠
- p.Ala57Val Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Arg131= Single submitter
- p.Arg191His Single submitter ⚠
- p.Arg218Gln Single submitter ⚠
- p.Arg231Trp Single submitter ⚠
- p.Arg324His Single submitter ⚠
- p.Arg327Gln Single submitter ⚠
- p.Arg335Cys Single submitter ⚠
- p.Arg344Cys Single submitter ⚠
- p.Arg389Gln Single submitter ⚠
- p.Arg39Lys Single submitter ⚠
- p.Arg438Gln Single submitter ⚠
- p.Arg439His Single submitter ⚠
- p.Arg81Gln Single submitter ⚠
- p.Arg81Ter Single submitter
- p.Asn263Lys Single submitter ⚠
- p.Asn413Ser Single submitter ⚠
- p.Asn417Ser Single submitter ⚠
- p.Asn65Ser Single submitter ⚠
- p.Asp142Asn Single submitter ⚠
- p.Asp17Asn Single submitter ⚠
- p.Asp18Asn Single submitter ⚠
- p.Asp229Asn Single submitter ⚠
- p.Asp230Glu Single submitter ⚠
- p.Asp230Val Single submitter ⚠
- p.Asp261Asn Single submitter ⚠
- p.Asp310Glu Single submitter ⚠
- p.Asp312Gly Single submitter retinitis pigmentosa 70 ⚠
- p.Asp392= Single submitter
- p.Asp502Glu Single submitter
- p.Asp512Gly Single submitter ⚠
- p.Cys262Trp Single submitter ⚠
- p.Cys440Arg Single submitter ⚠
- p.Gln162Arg Single submitter ⚠
- p.Gln162His Single submitter ⚠
- p.Gln209His Single submitter ⚠
- p.Gln354Arg Single submitter ⚠
- p.Gln97His Single submitter ⚠
- p.Glu159Lys Single submitter ⚠
- p.Glu193Lys Single submitter ⚠
- p.Glu36Lys Single submitter ⚠
- p.Glu38fs Single submitter
- p.Glu491Lys Single submitter ⚠
- p.Glu521Lys Single submitter
- p.Glu70Lys Single submitter
- p.Glu76Asp Single submitter ⚠
- p.Glu80Lys Single submitter ⚠
- p.Gly115Arg Single submitter ⚠
- p.Gly115Trp Single submitter ⚠
- p.Gly270Arg Single submitter ⚠
- p.Gly276Ala Single submitter
- p.Gly302Ser Single submitter ⚠
- p.Gly320Ser Single submitter ⚠
- p.Gly338Cys Single submitter ⚠
- p.Gly362Ser Single submitter ⚠
- p.Gly383Ala Single submitter ⚠
- p.Gly411Arg Single submitter ⚠
- p.Gly411Glu Single submitter ⚠
- p.Gly424Ser Single submitter ⚠
- p.Gly467Ala Single submitter ⚠
- p.Gly467Ser Single submitter ⚠
- p.Gly54Arg Single submitter ⚠
- p.Gly54Glu Single submitter ⚠
- p.His198Arg Single submitter ⚠
- p.His266Arg Single submitter ⚠
- p.His281Arg Single submitter ⚠
- p.His460Arg Single submitter ⚠
- p.His478Gln Single submitter ⚠
- p.Ile135Thr Single submitter ⚠
- p.Ile180Leu Single submitter ⚠
- p.Ile180Met Single submitter ⚠
- p.Ile233Val Single submitter ⚠
- p.Ile29Leu Single submitter ⚠
- p.Ile29Val Single submitter ⚠
- p.Ile421Val Single submitter ⚠
- p.Ile444Met Single submitter
- p.Ile444Val Single submitter ⚠
- p.Ile475Val Single submitter ⚠
- p.Ile499Thr Single submitter
- p.Ile64Thr Single submitter ⚠
- p.Ile66Val Single submitter ⚠
- p.Ile74_Glu75del Single submitter
- p.Leu111Phe Single submitter ⚠
- p.Leu213Pro Single submitter ⚠
- p.Leu220Ser Single submitter ⚠
- p.Leu253Phe Single submitter
- p.Leu265Phe Single submitter ⚠
- p.Leu295Val Single submitter ⚠
- p.Leu435Ile Single submitter ⚠
- p.Leu464Trp Single submitter ⚠
- p.Leu497Val Single submitter ⚠
- p.Leu50Trp Single submitter ⚠
- p.Lys145Arg Single submitter ⚠
- p.Lys148Arg Single submitter ⚠
- p.Lys148Glu Single submitter ⚠
- p.Lys155Thr Single submitter
- p.Lys215Arg Single submitter ⚠
- p.Lys493Glu Single submitter ⚠
- p.Met210Lys Single submitter ⚠
- p.Met365Val Single submitter ⚠
- p.Met400Val Single submitter ⚠
- p.Phe414Ile Single submitter ⚠
- p.Phe456Ile Single submitter ⚠
- p.Phe463Ile Single submitter ⚠
- p.Pro170Ala Single submitter ⚠
- p.Pro186Ser Single submitter ⚠
- p.Pro202Ala Single submitter ⚠
- p.Pro202Leu Single submitter ⚠
- p.Pro22Leu Single submitter ⚠
- p.Pro22Ser Single submitter ⚠
- p.Pro290Arg Single submitter ⚠
- p.Pro314Arg Single submitter ⚠
- p.Pro314Thr Single submitter ⚠
- p.Pro416Arg Single submitter ⚠
- p.Pro416Ser Single submitter ⚠
- p.Pro458Ser Single submitter ⚠
- p.Pro458Thr Single submitter ⚠
- p.Pro483Leu Single submitter
- p.Ser137Pro Single submitter ⚠
- p.Ser154Pro Single submitter ⚠
- p.Ser219Phe Single submitter ⚠
- p.Ser242Cys Single submitter ⚠
- p.Ser287Phe Single submitter ⚠
- p.Ser364Gly Single submitter ⚠
- p.Ser482Phe Single submitter ⚠
- p.Ser4Trp Single submitter ⚠
- p.Ser500Ala Single submitter ⚠
- p.Ser79Gly Single submitter ⚠
- p.Ser8Pro Single submitter ⚠
- p.Ter522Trp Single submitter
- p.Thr11Ala Single submitter ⚠
- p.Thr11Ser Single submitter ⚠
- p.Thr164Ala Single submitter ⚠
- p.Thr205del Single submitter
- p.Thr267Ile Single submitter ⚠
- p.Thr340Ser Single submitter ⚠
- p.Thr395Ala Single submitter ⚠
- p.Thr423Ala Single submitter ⚠
- p.Thr429Ile Single submitter
- p.Thr477Met Single submitter ⚠
- p.Thr508Ser Single submitter ⚠
- p.Thr9Ala Single submitter ⚠
- p.Trp349Arg Single submitter ⚠
- p.Trp433Ter Single submitter
- p.Trp518Cys Single submitter ⚠
- p.Tyr410Cys Single submitter ⚠
- p.Tyr410His Single submitter ⚠
- p.Tyr419Cys Single submitter ⚠
- p.Tyr511Cys Single submitter ⚠
- p.Val20Gly Single submitter ⚠
- p.Val259Leu Single submitter
- p.Val286Asp Single submitter ⚠
- p.Ala2Val No assertion criteria inherited retinal dystrophy ⚠
- p.Thr285Ile No assertion criteria inherited retinal dystrophy
- p.Tyr161Cys No assertion criteria inherited retinal dystrophy ⚠