CCT2 — 401 ClinVar variants
All ClinVar germline CCT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 214 flagged for review →
2 Conflicting · 10 Benign · 162 Likely benign · 227 Uncertain significance
Full CCT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 214
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CCT2 p.Arg516His
Conflicting
No assertion criteria
Leber congenital amaurosis
-
CCT2 p.Thr400Pro
Conflicting
No assertion criteria
Leber congenital amaurosis
Predictors lean, ClinVar uncertain 112
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCT2 p.Ala128Thr Uncertain significance Multiple submitters
- CCT2 p.Ala133Val Uncertain significance Multiple submitters
- CCT2 p.Arg255Trp Uncertain significance Multiple submitters
- CCT2 p.Arg322Cys Uncertain significance Multiple submitters
- CCT2 p.Asn453Ser Uncertain significance Multiple submitters
- CCT2 p.Asn519Asp Uncertain significance Multiple submitters
- CCT2 p.Asn519Ile Uncertain significance Multiple submitters
- CCT2 p.Asn65Ser Uncertain significance Multiple submitters
- CCT2 p.Asp487Gly Uncertain significance Multiple submitters
- CCT2 p.Glu132Lys Uncertain significance Multiple submitters
- CCT2 p.Gly164Ser Uncertain significance Multiple submitters
- CCT2 p.Ile74Phe Uncertain significance Multiple submitters
- CCT2 p.Met160Val Uncertain significance Multiple submitters
- CCT2 p.Met417Leu Uncertain significance Multiple submitters
- CCT2 p.Met488Ile Uncertain significance Multiple submitters
- CCT2 p.Met62Val Uncertain significance Multiple submitters
- CCT2 p.Phe29Ser Uncertain significance Multiple submitters
- CCT2 p.Pro534Ser Uncertain significance Multiple submitters
- CCT2 p.Ser208Arg Uncertain significance Multiple submitters
- CCT2 p.Thr69Ala Uncertain significance Multiple submitters
- CCT2 p.Tyr439His Uncertain significance Multiple submitters
- CCT2 p.Val146Ile Uncertain significance Multiple submitters
- CCT2 p.Ala133Thr Uncertain significance Single submitter
- CCT2 p.Ala136Thr Uncertain significance Single submitter
- CCT2 p.Ala163Val Uncertain significance Single submitter
- CCT2 p.Ala183Pro Uncertain significance Single submitter
- CCT2 p.Ala186Val Uncertain significance Single submitter
- CCT2 p.Ala210Thr Uncertain significance Single submitter
- CCT2 p.Ala210Val Uncertain significance Single submitter
- CCT2 p.Ala307Pro Uncertain significance Single submitter
- CCT2 p.Ala34Thr Uncertain significance Single submitter
- CCT2 p.Ala398Val Uncertain significance Single submitter
- CCT2 p.Ala463Ser Uncertain significance Single submitter
- CCT2 p.Ala523Gly Uncertain significance Single submitter
- CCT2 p.Ala59Ser Uncertain significance Single submitter
- CCT2 p.Ala59Thr Uncertain significance Single submitter
- CCT2 p.Arg111Thr Uncertain significance Single submitter
- CCT2 p.Arg25His Uncertain significance Single submitter
- CCT2 p.Arg25Pro Uncertain significance Single submitter
- CCT2 p.Arg322His Uncertain significance Single submitter
- CCT2 p.Arg376His Uncertain significance Single submitter
- CCT2 p.Arg405Lys Uncertain significance Single submitter
- CCT2 p.Asn10Thr Uncertain significance Single submitter
- CCT2 p.Asn426Ser Uncertain significance Single submitter
- CCT2 p.Asn473Ser Uncertain significance Single submitter
- CCT2 p.Asn519Ser Uncertain significance Single submitter
- CCT2 p.Asp452Gly Uncertain significance Single submitter
- CCT2 p.Asp58Asn Uncertain significance Single submitter
- CCT2 p.Cys289Ser Uncertain significance Single submitter
- CCT2 p.Cys371Tyr Uncertain significance Single submitter
- CCT2 p.Gln124His Uncertain significance Single submitter
- CCT2 p.Glu330Gly Uncertain significance Single submitter
- CCT2 p.Glu350Gly Uncertain significance Single submitter
- CCT2 p.Glu351Lys Uncertain significance Single submitter
- CCT2 p.Glu432Gln Uncertain significance Single submitter
- CCT2 p.Gly149Ser Uncertain significance Single submitter
- CCT2 p.Gly217Ala Uncertain significance Single submitter
- CCT2 p.Gly31Val Uncertain significance Single submitter
- CCT2 p.Gly47Ser Uncertain significance Single submitter
- CCT2 p.Gly486Glu Uncertain significance Single submitter
- CCT2 p.His269Arg Uncertain significance Single submitter
- CCT2 p.His391Arg Uncertain significance Single submitter
- CCT2 p.His419Asp Uncertain significance Single submitter
- CCT2 p.His532Arg Uncertain significance Single submitter
- CCT2 p.Ile126Thr Uncertain significance Single submitter
- CCT2 p.Ile239Asn Uncertain significance Single submitter
- CCT2 p.Ile267Thr Uncertain significance Single submitter
- CCT2 p.Ile287Thr Uncertain significance Single submitter
- CCT2 p.Ile312Phe Uncertain significance Single submitter
- CCT2 p.Ile35Thr Uncertain significance Single submitter
- CCT2 p.Ile485Val Uncertain significance Single submitter
- CCT2 p.Ile490Val Uncertain significance Single submitter
- CCT2 p.Ile493Arg Uncertain significance Single submitter
- CCT2 p.Ile493Val Uncertain significance Single submitter
- CCT2 p.Leu340Pro Uncertain significance Single submitter
- CCT2 p.Leu38Phe Uncertain significance Single submitter
- CCT2 p.Leu416Val Uncertain significance Single submitter
- CCT2 p.Leu4Phe Uncertain significance Single submitter
- CCT2 p.Leu52Ile Uncertain significance Single submitter
- CCT2 p.Leu53Pro Uncertain significance Single submitter
- CCT2 p.Leu53Val Uncertain significance Single submitter
- CCT2 p.Leu71Val Uncertain significance Single submitter
- CCT2 p.Lys222Asn Uncertain significance Single submitter
- CCT2 p.Lys347Arg Uncertain significance Single submitter
- CCT2 p.Lys522Arg Uncertain significance Single submitter
- CCT2 p.Met160Thr Uncertain significance Single submitter
- CCT2 p.Met417Val Uncertain significance Single submitter
- CCT2 p.Met480Thr Uncertain significance Single submitter
- CCT2 p.Met62Thr Uncertain significance Single submitter
- CCT2 p.Met87Val Uncertain significance Single submitter
- CCT2 p.Phe290Leu Uncertain significance Single submitter
- CCT2 p.Pro447Leu Uncertain significance Single submitter
- CCT2 p.Pro447Thr Uncertain significance Single submitter
- CCT2 p.Pro534Arg Uncertain significance Single submitter
- CCT2 p.Pro8His Uncertain significance Single submitter
- CCT2 p.Pro8Leu Uncertain significance Single submitter
- CCT2 p.Ser212Cys Uncertain significance Single submitter
- CCT2 p.Ser28Phe Uncertain significance Single submitter
- CCT2 p.Ser41Ile Uncertain significance Single submitter
- CCT2 p.Ser458Arg Uncertain significance Single submitter
- CCT2 p.Ser458Asn Uncertain significance Single submitter
- CCT2 p.Ser54Asn Uncertain significance Single submitter
- CCT2 p.Thr173Ser Uncertain significance Single submitter
- CCT2 p.Thr23Arg Uncertain significance Single submitter
- CCT2 p.Thr27Ala Uncertain significance Single submitter
- CCT2 p.Thr448Ala Uncertain significance Single submitter
- CCT2 p.Tyr408Asp Uncertain significance Single submitter
- CCT2 p.Val104Ile Uncertain significance Single submitter
- CCT2 p.Val341Met Uncertain significance Single submitter
- CCT2 p.Val401Leu Uncertain significance Single submitter
- CCT2 p.Val76Ile Uncertain significance Single submitter
-
CCT2 p.Val256Leu
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 100
The independent predictors disagree with each other — read with care.
- CCT2 p.Ala145Val Uncertain significance Multiple submitters
- CCT2 p.Arg156Cys Uncertain significance Multiple submitters
- CCT2 p.Arg255Gln Uncertain significance Multiple submitters
- CCT2 p.Arg281Cys Uncertain significance Multiple submitters
-
CCT2 p.Arg281His
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- CCT2 p.Arg501Gln Uncertain significance Multiple submitters
- CCT2 p.Arg57Gln Uncertain significance Multiple submitters
- CCT2 p.Arg89Gly Uncertain significance Multiple submitters
- CCT2 p.Asn78Ser Uncertain significance Multiple submitters
- CCT2 p.Asp58Val Uncertain significance Multiple submitters
- CCT2 p.Glu233Gln Uncertain significance Multiple submitters
- CCT2 p.Ile251Leu Uncertain significance Multiple submitters
- CCT2 p.Ile282Val Uncertain significance Multiple submitters
- CCT2 p.Leu394Val Uncertain significance Multiple submitters
- CCT2 p.Lys176Gln Uncertain significance Multiple submitters
- CCT2 p.Lys402Met Uncertain significance Multiple submitters
- CCT2 p.Met488Thr Uncertain significance Multiple submitters
- CCT2 p.Met87Thr Uncertain significance Multiple submitters
- CCT2 p.Phe497Val Uncertain significance Multiple submitters
- CCT2 p.Ser150Phe Uncertain significance Multiple submitters
- CCT2 p.Ser458Gly Uncertain significance Multiple submitters
- CCT2 p.Ser60Pro Uncertain significance Multiple submitters
- CCT2 p.Thr428Ala Uncertain significance Multiple submitters
- CCT2 p.Tyr213Cys Uncertain significance Multiple submitters
- CCT2 p.Ala128Val Uncertain significance Single submitter
- CCT2 p.Ala137Gly Uncertain significance Single submitter
- CCT2 p.Ala270Val Uncertain significance Single submitter
- CCT2 p.Ala2Glu Uncertain significance Single submitter
- CCT2 p.Ala324Ser Uncertain significance Single submitter
- CCT2 p.Ala32Val Uncertain significance Single submitter
- CCT2 p.Ala440Gly Uncertain significance Single submitter
- CCT2 p.Ala463Val Uncertain significance Single submitter
- CCT2 p.Ala476Val Uncertain significance Single submitter
- CCT2 p.Ala511Thr Uncertain significance Single submitter
- CCT2 p.Arg138Gly Uncertain significance Single submitter
- CCT2 p.Arg156His Likely benign Single submitter
- CCT2 p.Arg257Lys Uncertain significance Single submitter
- CCT2 p.Arg466Lys Uncertain significance Single submitter
- CCT2 p.Arg481Trp Uncertain significance Single submitter
- CCT2 p.Arg57Leu Uncertain significance Single submitter
- CCT2 p.Asn195Asp Uncertain significance Single submitter
- CCT2 p.Asn195Ser Uncertain significance Single submitter
- CCT2 p.Asn234Ser Uncertain significance Single submitter
- CCT2 p.Asn519His Uncertain significance Single submitter
- CCT2 p.Asp151Asn Uncertain significance Single submitter
- CCT2 p.Asp177Gly Uncertain significance Single submitter
- CCT2 p.Asp211Asn Uncertain significance Single submitter
- CCT2 p.Asp211Gly Uncertain significance Single submitter
- CCT2 p.Asp403Val Uncertain significance Single submitter
- CCT2 p.Asp460Val Uncertain significance Single submitter
- CCT2 p.Cys412Ser Uncertain significance Single submitter
- CCT2 p.Glu277Gly Uncertain significance Single submitter
- CCT2 p.Glu280Gly Uncertain significance Single submitter
- CCT2 p.Glu369Asp Uncertain significance Single submitter
- CCT2 p.Glu432Gly Uncertain significance Single submitter
- CCT2 p.Gly164Asp Uncertain significance Single submitter
- CCT2 p.His175Arg Uncertain significance Single submitter
- CCT2 p.His178Arg Uncertain significance Single submitter
- CCT2 p.His178Tyr Uncertain significance Single submitter
- CCT2 p.His337Gln Uncertain significance Single submitter
- CCT2 p.Ile121Val Uncertain significance Single submitter
- CCT2 p.Ile126Val Uncertain significance Single submitter
- CCT2 p.Ile127Val Uncertain significance Single submitter
- CCT2 p.Ile224Thr Uncertain significance Single submitter
- CCT2 p.Ile33Val Uncertain significance Single submitter
- CCT2 p.Ile450Val Uncertain significance Single submitter
- CCT2 p.Ile521Met Uncertain significance Single submitter
- CCT2 p.Ile74Thr Uncertain significance Single submitter
- CCT2 p.Leu323Val Uncertain significance Single submitter
- CCT2 p.Lys119Glu Uncertain significance Single submitter
- CCT2 p.Lys176Arg Uncertain significance Single submitter
- CCT2 p.Lys236Glu Uncertain significance Single submitter
- CCT2 p.Lys263Glu Uncertain significance Single submitter
- CCT2 p.Lys72Arg Uncertain significance Single submitter
- CCT2 p.Met310Thr Uncertain significance Single submitter
- CCT2 p.Met436Val Uncertain significance Single submitter
- CCT2 p.Met488Val Uncertain significance Single submitter
- CCT2 p.Phe12Leu Uncertain significance Single submitter
- CCT2 p.Phe252Leu Uncertain significance Single submitter
- CCT2 p.Pro229Leu Uncertain significance Single submitter
- CCT2 p.Pro338Ala Uncertain significance Single submitter
- CCT2 p.Ser115Cys Uncertain significance Single submitter
- CCT2 p.Ser144Phe Uncertain significance Single submitter
- CCT2 p.Ser150Cys Uncertain significance Single submitter
- CCT2 p.Ser208Gly Uncertain significance Single submitter
- CCT2 p.Ser260Ala Uncertain significance Single submitter
- CCT2 p.Ser28Ala Uncertain significance Single submitter
- CCT2 p.Ser496Gly Uncertain significance Single submitter
- CCT2 p.Ser5Cys Uncertain significance Single submitter
- CCT2 p.Thr125Ile Uncertain significance Single submitter
- CCT2 p.Thr134Met Uncertain significance Single submitter
- CCT2 p.Thr173Ile Uncertain significance Single submitter
- CCT2 p.Thr246Ala Uncertain significance Single submitter
- CCT2 p.Thr428Ile Uncertain significance Single submitter
- CCT2 p.Thr474Ser Uncertain significance Single submitter
- CCT2 p.Tyr408His Uncertain significance Single submitter
- CCT2 p.Val102Ile Uncertain significance Single submitter
- CCT2 p.Val256Ile Uncertain significance Single submitter
- CCT2 p.Val39Leu Uncertain significance Single submitter
-
CCT2 p.Ala140Val
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All CCT2 variants
Conflicting classifications of pathogenicity 2
- p.Arg516His No assertion criteria Leber congenital amaurosis ⚠
- p.Thr400Pro No assertion criteria Leber congenital amaurosis ⚠
Benign 10
- c.1232-15A>G Multiple submitters
- c.78+17G>C Multiple submitters
- p.Thr261= Multiple submitters
- c.144+16A>G Single submitter
- c.144+22_144+40del Single submitter
- c.145-19C>A Single submitter
- c.1578-14dup Single submitter
- c.751-7G>T Single submitter
- c.982+12del Single submitter
- p.Phe12= Single submitter
Likely benign 162
- c.1102+13G>T Single submitter
- c.1102+18T>A Single submitter
- c.1102+19C>T Single submitter
- c.1102+8A>G Single submitter
- c.1103-10T>C Single submitter
- c.1103-17G>A Single submitter
- c.1103-18T>C Single submitter
- c.1103-8A>C Single submitter
- c.1103-8A>T Single submitter
- c.1231+16A>G Single submitter
- c.1335+16T>C Single submitter
- c.1335+17G>C Single submitter
- c.1335+19G>A Single submitter
- c.1335+8A>C Single submitter
- c.1435+12A>G Single submitter
- c.1435+14G>C Single submitter
- c.1435+15G>A Single submitter
- c.1435+20T>C Single submitter
- c.1435+8A>G Single submitter
- c.1436-20A>G Single submitter
- c.1436-8_1436-6del Single submitter
- c.1436-8C>T Single submitter
- c.144+10A>G Single submitter
- c.144+15A>G Single submitter
- c.145-19C>T Single submitter
- c.145-8C>G Single submitter
- c.145-9T>C Single submitter
- c.1577+10C>T Single submitter
- c.1577+15_1577+16del Single submitter
- c.1577+16T>C Single submitter
- c.1577+17C>T Single submitter
- c.1577+20A>G Single submitter
- c.1578-11T>C Single submitter
- c.1578-6_1578-5del Single submitter
- c.256+11A>G Single submitter
- c.256+18T>C Single submitter
- c.257-15A>G Single submitter
- c.257-18A>G Single submitter
- c.257-18A>T Single submitter
- c.257-4C>T Single submitter
- c.3+13C>A Single submitter
- c.3+16C>T Single submitter
- c.3+17T>G Single submitter
- c.3+20C>T Single submitter
- c.3+7C>T Single submitter
- c.3+9G>A Single submitter
- c.333+15G>A Single submitter
- c.333+8C>T Single submitter
- c.4-18C>T Single submitter
- c.4-8C>T Single submitter
- c.4-8del Single submitter
- c.446+15G>C Single submitter
- c.446+20A>G Single submitter
- c.446+7A>G Single submitter
- c.447-17T>C Single submitter
- c.447-5T>C Single submitter
- c.649+7A>G Single submitter
- c.650-12T>C Single submitter
- c.650-16C>T Single submitter
- c.650-18T>G Single submitter
- c.650-19del Single submitter
- c.750+11C>G Single submitter
- c.751-11G>A Single submitter
- c.751-12C>T Single submitter
- c.751-5C>T Single submitter
- c.78+10G>C Single submitter
- c.78+13C>T Single submitter
- c.78+15A>G Single submitter
- c.78+9T>C Single submitter
- c.79-11T>G Single submitter
- c.79-17C>T Single submitter
- c.879-13A>G Single submitter
- c.879-20T>C Single submitter
- c.879-4A>C Single submitter
- c.982+11_982+13del Single submitter
- c.982+17T>C Single submitter
- c.983-16ATGTTT[3] Single submitter
- c.983-17C>T Single submitter
- c.983-20A>G Single submitter
- c.983-4A>G Single submitter
- p.Ala128= Single submitter
- p.Ala136= Single submitter
- p.Ala163= Single submitter
- p.Ala198= Single submitter
- p.Ala240= Single submitter
- p.Ala315= Single submitter
- p.Ala366= Single submitter
- p.Ala370= Single submitter
- p.Ala378= Single submitter
- p.Ala398= Single submitter
- p.Ala511= Single submitter
- p.Ala523= Single submitter
- p.Ala524= Single submitter
- p.Ala59= Single submitter
- p.Ala80= Single submitter
- p.Ala81= Single submitter
- p.Arg156= Single submitter
- p.Arg156His Single submitter ⚠
- p.Arg322= Single submitter
- p.Arg388= Single submitter
- p.Arg405= Single submitter
- p.Arg516= Single submitter
- p.Asn73= Single submitter
- p.Asp151= Single submitter
- p.Asp247= Single submitter
- p.Asp259= Single submitter
- p.Asp403= Single submitter
- p.Asp460= Single submitter
- p.Cys395= Single submitter
- p.Gln294= Single submitter
- p.Gln381= Single submitter
- p.Glu301= Single submitter
- p.Glu432= Single submitter
- p.Glu512= Single submitter
- p.Gly253= Single submitter
- p.Gly319= Single submitter
- p.Gly98= Single submitter
- p.His174= Single submitter
- p.His269= Single submitter
- p.His419= Single submitter
- p.His532= Single submitter
- p.Ile11= Single submitter
- p.Ile121= Single submitter
- p.Ile33= Single submitter
- p.Ile349= Single submitter
- p.Ile382= Single submitter
- p.Ile70= Single submitter
- p.Leu110= Single submitter
- p.Leu141= Single submitter
- p.Leu188= Single submitter
- p.Leu205= Single submitter
- p.Leu209= Single submitter
- p.Leu220= Single submitter
- p.Leu295= Single submitter
- p.Leu303= Single submitter
- p.Leu323= Single submitter
- p.Leu390= Single submitter
- p.Leu394= Single submitter
- p.Leu478= Single submitter
- p.Leu491= Single submitter
- p.Leu61= Single submitter
- p.Lys154= Single submitter
- p.Lys222= Single submitter
- p.Lys527= Single submitter
- p.Phe290= Single submitter
- p.Pro123= Single submitter
- p.Pro8= Single submitter
- p.Ser144= Single submitter
- p.Ser150= Single submitter
- p.Ser254= Single submitter
- p.Ser260= Single submitter
- p.Ser404= Single submitter
- p.Ser55= Single submitter
- p.Thr103= Single submitter
- p.Thr134= Single submitter
- p.Thr27= Single submitter
- p.Thr494= Single submitter
- p.Thr69= Single submitter
- p.Tyr439= Single submitter
- p.Val39= Single submitter
- p.Val401= Single submitter
- p.Val529= Single submitter
Uncertain significance 227
- p.Ala128Thr Multiple submitters ⚠
- p.Ala133Val Multiple submitters ⚠
- p.Ala145Val Multiple submitters ⚠
- p.Arg156Cys Multiple submitters ⚠
- p.Arg255Gln Multiple submitters ⚠
- p.Arg255Trp Multiple submitters ⚠
- p.Arg281Cys Multiple submitters ⚠
- p.Arg281His Multiple submitters inherited retinal dystrophy ⚠
- p.Arg322Cys Multiple submitters ⚠
- p.Arg501Gln Multiple submitters ⚠
- p.Arg57Gln Multiple submitters ⚠
- p.Arg89Gly Multiple submitters ⚠
- p.Asn453Ser Multiple submitters ⚠
- p.Asn519Asp Multiple submitters ⚠
- p.Asn519Ile Multiple submitters ⚠
- p.Asn65Ser Multiple submitters ⚠
- p.Asn78Ser Multiple submitters ⚠
- p.Asp487Gly Multiple submitters ⚠
- p.Asp58Val Multiple submitters ⚠
- p.Glu132Lys Multiple submitters ⚠
- p.Glu233Gln Multiple submitters ⚠
- p.Gly164Ser Multiple submitters ⚠
- p.Ile251Leu Multiple submitters ⚠
- p.Ile282Val Multiple submitters ⚠
- p.Ile74Phe Multiple submitters ⚠
- p.Leu394Val Multiple submitters ⚠
- p.Lys176Gln Multiple submitters ⚠
- p.Lys402Met Multiple submitters ⚠
- p.Met160Val Multiple submitters ⚠
- p.Met417Leu Multiple submitters ⚠
- p.Met488Ile Multiple submitters ⚠
- p.Met488Thr Multiple submitters ⚠
- p.Met62Val Multiple submitters ⚠
- p.Met87Thr Multiple submitters ⚠
- p.Phe29Ser Multiple submitters ⚠
- p.Phe497Val Multiple submitters ⚠
- p.Pro534Ser Multiple submitters ⚠
- p.Ser150Phe Multiple submitters ⚠
- p.Ser208Arg Multiple submitters ⚠
- p.Ser458Gly Multiple submitters ⚠
- p.Ser60Pro Multiple submitters ⚠
- p.Thr428Ala Multiple submitters ⚠
- p.Thr69Ala Multiple submitters ⚠
- p.Tyr213Cys Multiple submitters ⚠
- p.Tyr439His Multiple submitters ⚠
- p.Val146Ile Multiple submitters ⚠
- c.1232-3del Single submitter
- c.1232-3T>C Single submitter
- c.1435+4A>G Single submitter
- c.1436-3C>A Single submitter
- c.145-16A>G Single submitter
- c.1577+4C>T Single submitter
- c.257-3T>G Single submitter
- c.3+6C>G Single submitter
- c.446+6T>C Single submitter
- c.751-1G>C Single submitter
- c.79-1G>C Single submitter
- c.982+13G>A Single submitter
- c.982+1G>A Single submitter
- c.982+4T>C Single submitter
- p.Ala128Val Single submitter ⚠
- p.Ala133Thr Single submitter ⚠
- p.Ala136Thr Single submitter ⚠
- p.Ala137Gly Single submitter ⚠
- p.Ala163Val Single submitter ⚠
- p.Ala183Pro Single submitter ⚠
- p.Ala186Val Single submitter ⚠
- p.Ala210Thr Single submitter ⚠
- p.Ala210Val Single submitter ⚠
- p.Ala270Val Single submitter ⚠
- p.Ala2Glu Single submitter ⚠
- p.Ala307Pro Single submitter ⚠
- p.Ala324Ser Single submitter ⚠
- p.Ala32Val Single submitter ⚠
- p.Ala34Thr Single submitter ⚠
- p.Ala398Val Single submitter ⚠
- p.Ala440Gly Single submitter ⚠
- p.Ala463Ser Single submitter ⚠
- p.Ala463Val Single submitter ⚠
- p.Ala476Val Single submitter ⚠
- p.Ala511Thr Single submitter ⚠
- p.Ala523Gly Single submitter ⚠
- p.Ala59Ser Single submitter ⚠
- p.Ala59Thr Single submitter ⚠
- p.Arg111Thr Single submitter ⚠
- p.Arg138Gly Single submitter ⚠
- p.Arg257Lys Single submitter ⚠
- p.Arg25His Single submitter ⚠
- p.Arg25Pro Single submitter ⚠
- p.Arg322His Single submitter ⚠
- p.Arg376His Single submitter ⚠
- p.Arg405Lys Single submitter ⚠
- p.Arg466Lys Single submitter ⚠
- p.Arg481Trp Single submitter ⚠
- p.Arg57Leu Single submitter ⚠
- p.Asn10Thr Single submitter ⚠
- p.Asn195Asp Single submitter ⚠
- p.Asn195Ser Single submitter ⚠
- p.Asn234Ser Single submitter ⚠
- p.Asn426Ser Single submitter ⚠
- p.Asn473Ser Single submitter ⚠
- p.Asn519His Single submitter ⚠
- p.Asn519Ser Single submitter ⚠
- p.Asp151Asn Single submitter ⚠
- p.Asp177Gly Single submitter ⚠
- p.Asp211Asn Single submitter ⚠
- p.Asp211Gly Single submitter ⚠
- p.Asp403Val Single submitter ⚠
- p.Asp452Gly Single submitter ⚠
- p.Asp460Val Single submitter ⚠
- p.Asp58Asn Single submitter ⚠
- p.Cys289Ser Single submitter ⚠
- p.Cys371Tyr Single submitter ⚠
- p.Cys412Ser Single submitter ⚠
- p.Gln124His Single submitter ⚠
- p.Glu277Gly Single submitter ⚠
- p.Glu280Gly Single submitter ⚠
- p.Glu330Gly Single submitter ⚠
- p.Glu350fs Single submitter
- p.Glu350Gly Single submitter ⚠
- p.Glu351Lys Single submitter ⚠
- p.Glu369Asp Single submitter ⚠
- p.Glu432Gln Single submitter ⚠
- p.Glu432Gly Single submitter ⚠
- p.Gly149Ser Single submitter ⚠
- p.Gly164Asp Single submitter ⚠
- p.Gly217Ala Single submitter ⚠
- p.Gly31Val Single submitter ⚠
- p.Gly47Ser Single submitter ⚠
- p.Gly486Glu Single submitter ⚠
- p.His175Arg Single submitter ⚠
- p.His178Arg Single submitter ⚠
- p.His178Tyr Single submitter ⚠
- p.His269Arg Single submitter ⚠
- p.His337Gln Single submitter ⚠
- p.His391Arg Single submitter ⚠
- p.His419Asp Single submitter ⚠
- p.His532Arg Single submitter ⚠
- p.Ile121Val Single submitter ⚠
- p.Ile126Thr Single submitter ⚠
- p.Ile126Val Single submitter ⚠
- p.Ile127Val Single submitter ⚠
- p.Ile224Thr Single submitter ⚠
- p.Ile239Asn Single submitter ⚠
- p.Ile267Thr Single submitter ⚠
- p.Ile287Thr Single submitter ⚠
- p.Ile312Phe Single submitter ⚠
- p.Ile33Val Single submitter ⚠
- p.Ile35Thr Single submitter ⚠
- p.Ile450Val Single submitter ⚠
- p.Ile485Val Single submitter ⚠
- p.Ile490Val Single submitter ⚠
- p.Ile493Arg Single submitter ⚠
- p.Ile493Val Single submitter ⚠
- p.Ile521Met Single submitter ⚠
- p.Ile74Thr Single submitter ⚠
- p.Leu323Val Single submitter ⚠
- p.Leu340Pro Single submitter ⚠
- p.Leu38Phe Single submitter ⚠
- p.Leu416Val Single submitter ⚠
- p.Leu4Phe Single submitter ⚠
- p.Leu52Ile Single submitter ⚠
- p.Leu53Pro Single submitter ⚠
- p.Leu53Val Single submitter ⚠
- p.Leu71Val Single submitter ⚠
- p.Lys119Glu Single submitter ⚠
- p.Lys176Arg Single submitter ⚠
- p.Lys222Asn Single submitter ⚠
- p.Lys236Glu Single submitter ⚠
- p.Lys263Glu Single submitter ⚠
- p.Lys276fs Single submitter
- p.Lys347Arg Single submitter ⚠
- p.Lys522Arg Single submitter ⚠
- p.Lys72Arg Single submitter ⚠
- p.Met160Thr Single submitter ⚠
- p.Met310Thr Single submitter ⚠
- p.Met417Val Single submitter ⚠
- p.Met436Val Single submitter ⚠
- p.Met480Thr Single submitter ⚠
- p.Met488Val Single submitter ⚠
- p.Met62Thr Single submitter ⚠
- p.Met87Val Single submitter ⚠
- p.Phe12Leu Single submitter ⚠
- p.Phe252Leu Single submitter ⚠
- p.Phe290Leu Single submitter ⚠
- p.Pro229Leu Single submitter ⚠
- p.Pro338Ala Single submitter ⚠
- p.Pro447Leu Single submitter ⚠
- p.Pro447Thr Single submitter ⚠
- p.Pro534Arg Single submitter ⚠
- p.Pro8His Single submitter ⚠
- p.Pro8Leu Single submitter ⚠
- p.Ser115Cys Single submitter ⚠
- p.Ser144Phe Single submitter ⚠
- p.Ser150Cys Single submitter ⚠
- p.Ser208Gly Single submitter ⚠
- p.Ser212Cys Single submitter ⚠
- p.Ser260Ala Single submitter ⚠
- p.Ser28Ala Single submitter ⚠
- p.Ser28Phe Single submitter ⚠
- p.Ser41Ile Single submitter ⚠
- p.Ser458Arg Single submitter ⚠
- p.Ser458Asn Single submitter ⚠
- p.Ser496Gly Single submitter ⚠
- p.Ser54Asn Single submitter ⚠
- p.Ser5Cys Single submitter ⚠
- p.Thr125Ile Single submitter ⚠
- p.Thr134Met Single submitter ⚠
- p.Thr173Ile Single submitter ⚠
- p.Thr173Ser Single submitter ⚠
- p.Thr23Arg Single submitter ⚠
- p.Thr246Ala Single submitter ⚠
- p.Thr27Ala Single submitter ⚠
- p.Thr428Ile Single submitter ⚠
- p.Thr448Ala Single submitter ⚠
- p.Thr474Ser Single submitter ⚠
- p.Tyr408Asp Single submitter ⚠
- p.Tyr408His Single submitter ⚠
- p.Val102Ile Single submitter ⚠
- p.Val104Ile Single submitter ⚠
- p.Val256Ile Single submitter ⚠
- p.Val341Met Single submitter ⚠
- p.Val39Leu Single submitter ⚠
- p.Val401Leu Single submitter ⚠
- p.Val76Ile Single submitter ⚠
- p.Ala140Val No assertion criteria inherited retinal dystrophy ⚠
- p.Val256Leu No assertion criteria inherited retinal dystrophy ⚠