CLCC1 — 320 ClinVar variants
All ClinVar germline CLCC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →
1 Pathogenic/Likely pathogenic · 7 Conflicting · 16 Benign · 115 Likely benign · 181 Uncertain significance
Full CLCC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 157
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 106
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLCC1 p.Ala245Thr Uncertain significance Multiple submitters
- CLCC1 p.Ala522Thr Uncertain significance Multiple submitters
- CLCC1 p.Arg208His Uncertain significance Multiple submitters
- CLCC1 p.Arg401Gly Uncertain significance Multiple submitters
- CLCC1 p.Asn142Lys Uncertain significance Multiple submitters
- CLCC1 p.Asn94Ser Uncertain significance Multiple submitters
- CLCC1 p.Cys3Tyr Uncertain significance Multiple submitters
- CLCC1 p.Glu369Lys Uncertain significance Multiple submitters
-
CLCC1 p.Glu507Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa 32
- CLCC1 p.Gly394Ser Uncertain significance Multiple submitters
- CLCC1 p.Gly536Val Uncertain significance Multiple submitters
- CLCC1 p.Lys514Thr Uncertain significance Multiple submitters
- CLCC1 p.Met121Thr Uncertain significance Multiple submitters
- CLCC1 p.Met247Ile Uncertain significance Multiple submitters
- CLCC1 p.Pro114Ser Uncertain significance Multiple submitters
- CLCC1 p.Pro295Leu Uncertain significance Multiple submitters
- CLCC1 p.Pro376Ser Uncertain significance Multiple submitters
- CLCC1 p.Pro545Leu Uncertain significance Multiple submitters
- CLCC1 p.Ser438Arg Uncertain significance Multiple submitters
- CLCC1 p.Ser49Thr Uncertain significance Multiple submitters
- CLCC1 p.Ser532Gly Uncertain significance Multiple submitters
- CLCC1 p.Val196Met Uncertain significance Multiple submitters
- CLCC1 p.Ala325Thr Uncertain significance Single submitter
- CLCC1 p.Ala343Thr Uncertain significance Single submitter
- CLCC1 p.Ala353Thr Uncertain significance Single submitter
- CLCC1 p.Ala450Thr Uncertain significance Single submitter
- CLCC1 p.Ala511Thr Uncertain significance Single submitter
- CLCC1 p.Ala515Ser Uncertain significance Single submitter
- CLCC1 p.Ala534Pro Uncertain significance Single submitter
-
CLCC1 p.Ala534Thr
Uncertain significance
Single submitter
retinitis pigmentosa 32
- CLCC1 p.Arg173Gln Uncertain significance Single submitter
- CLCC1 p.Arg173Leu Uncertain significance Single submitter
- CLCC1 p.Arg208Cys Uncertain significance Single submitter
- CLCC1 p.Arg375Gln Uncertain significance Single submitter
- CLCC1 p.Arg377Gln Uncertain significance Single submitter
- CLCC1 p.Arg443Gln Uncertain significance Single submitter
- CLCC1 p.Asn289Ser Uncertain significance Single submitter
- CLCC1 p.Asp145Gly Uncertain significance Single submitter
- CLCC1 p.Asp21Gly Uncertain significance Single submitter
- CLCC1 p.Asp386Asn Uncertain significance Single submitter
- CLCC1 p.Asp390Asn Uncertain significance Single submitter
- CLCC1 p.Asp427Ala Uncertain significance Single submitter
- CLCC1 p.Asp429Gly Uncertain significance Single submitter
- CLCC1 p.Asp446Asn Uncertain significance Single submitter
- CLCC1 p.Asp53Gly Uncertain significance Single submitter
- CLCC1 p.Asp544His Uncertain significance Single submitter
- CLCC1 p.Cys550Ser Uncertain significance Single submitter
- CLCC1 p.Cys60Ser Uncertain significance Single submitter
- CLCC1 p.Gln241His Uncertain significance Single submitter
- CLCC1 p.Gln409Pro Uncertain significance Single submitter
- CLCC1 p.Glu116Gly Uncertain significance Single submitter
- CLCC1 p.Glu248Gly Uncertain significance Single submitter
- CLCC1 p.Glu321Ala Uncertain significance Single submitter
- CLCC1 p.Glu421Gln Uncertain significance Single submitter
- CLCC1 p.Glu485Ala Uncertain significance Single submitter
- CLCC1 p.Gly354Arg Uncertain significance Single submitter
- CLCC1 p.Gly365Ser Uncertain significance Single submitter
- CLCC1 p.Gly536Arg Uncertain significance Single submitter
- CLCC1 p.Gly551Ser Uncertain significance Single submitter
- CLCC1 p.His462Arg Uncertain significance Single submitter
- CLCC1 p.Ile128Val Uncertain significance Single submitter
- CLCC1 p.Ile160Thr Uncertain significance Single submitter
- CLCC1 p.Ile160Val Uncertain significance Single submitter
- CLCC1 p.Ile195Val Uncertain significance Single submitter
- CLCC1 p.Ile264Phe Uncertain significance Single submitter
- CLCC1 p.Ile291Val Uncertain significance Single submitter
- CLCC1 p.Ile340Thr Uncertain significance Single submitter
- CLCC1 p.Ile78Met Uncertain significance Single submitter
- CLCC1 p.Leu141Phe Uncertain significance Single submitter
- CLCC1 p.Leu189Pro Uncertain significance Single submitter
- CLCC1 p.Leu190Ile Uncertain significance Single submitter
- CLCC1 p.Leu193Phe Uncertain significance Single submitter
- CLCC1 p.Lys147Glu Uncertain significance Single submitter
- CLCC1 p.Lys470Gln Uncertain significance Single submitter
- CLCC1 p.Lys52Arg Uncertain significance Single submitter
- CLCC1 p.Met121Val Uncertain significance Single submitter
- CLCC1 p.Met247Thr Uncertain significance Single submitter
- CLCC1 p.Met327Leu Uncertain significance Single submitter
- CLCC1 p.Phe223Ile Uncertain significance Single submitter
- CLCC1 p.Phe349Ser Uncertain significance Single submitter
- CLCC1 p.Pro114Leu Uncertain significance Single submitter
- CLCC1 p.Pro366Thr Uncertain significance Single submitter
- CLCC1 p.Pro376Leu Uncertain significance Single submitter
- CLCC1 p.Pro411Arg Uncertain significance Single submitter
- CLCC1 p.Pro439Arg Uncertain significance Single submitter
- CLCC1 p.Pro439Ser Uncertain significance Single submitter
- CLCC1 p.Pro540Ser Uncertain significance Single submitter
- CLCC1 p.Ser368Gly Uncertain significance Single submitter
- CLCC1 p.Ser461Gly Uncertain significance Single submitter
- CLCC1 p.Ser464Leu Uncertain significance Single submitter
- CLCC1 p.Ser487Arg Uncertain significance Single submitter
- CLCC1 p.Ser498Pro Uncertain significance Single submitter
- CLCC1 p.Ser532Thr Uncertain significance Single submitter
- CLCC1 p.Thr201Ala Uncertain significance Single submitter
- CLCC1 p.Thr309Arg Uncertain significance Single submitter
- CLCC1 p.Thr407Ala Uncertain significance Single submitter
- CLCC1 p.Thr469Ile Uncertain significance Single submitter
- CLCC1 p.Trp146Gly Uncertain significance Single submitter
- CLCC1 p.Trp267Arg Uncertain significance Single submitter
- CLCC1 p.Tyr387Phe Uncertain significance Single submitter
- CLCC1 p.Tyr400Phe Uncertain significance Single submitter
- CLCC1 p.Tyr76Asn Uncertain significance Single submitter
- CLCC1 p.Tyr76Asp Uncertain significance Single submitter
- CLCC1 p.Tyr89His Uncertain significance Single submitter
- CLCC1 p.Val466Ala Uncertain significance Single submitter
-
CLCC1 p.Glu175Lys
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 46
The independent predictors disagree with each other — read with care.
- CLCC1 p.Arg375Trp Benign Multiple submitters
- CLCC1 p.Arg377Trp Uncertain significance Multiple submitters
- CLCC1 p.Arg381Trp Uncertain significance Multiple submitters
- CLCC1 p.Arg443Trp Uncertain significance Multiple submitters
- CLCC1 p.Asn142His Uncertain significance Multiple submitters
- CLCC1 p.Cys10Tyr Uncertain significance Multiple submitters
- CLCC1 p.Gly112Arg Uncertain significance Multiple submitters
- CLCC1 p.Ser348Arg Uncertain significance Multiple submitters
- CLCC1 p.Thr415Met Uncertain significance Multiple submitters
- CLCC1 p.Thr457Met Uncertain significance Multiple submitters
- CLCC1 p.Trp272Arg Uncertain significance Multiple submitters
- CLCC1 p.Ala154Val Uncertain significance Single submitter
- CLCC1 p.Ala301Gly Uncertain significance Single submitter
- CLCC1 p.Arg215Cys Conflicting Single submitter
- CLCC1 p.Arg215His Uncertain significance Single submitter
- CLCC1 p.Arg381Gln Uncertain significance Single submitter
- CLCC1 p.Asn31Ser Uncertain significance Single submitter
- CLCC1 p.Asp276Gly Uncertain significance Single submitter
- CLCC1 p.Glu266Val Uncertain significance Single submitter
- CLCC1 p.Ile315Thr Uncertain significance Single submitter
- CLCC1 p.Leu134Phe Uncertain significance Single submitter
- CLCC1 p.Leu134Ser Uncertain significance Single submitter
- CLCC1 p.Leu155Ile Uncertain significance Single submitter
- CLCC1 p.Leu2Met Uncertain significance Single submitter
- CLCC1 p.Leu74Ser Uncertain significance Single submitter
- CLCC1 p.Leu7His Uncertain significance Single submitter
- CLCC1 p.Leu7Phe Uncertain significance Single submitter
- CLCC1 p.Lys70Glu Uncertain significance Single submitter
- CLCC1 p.Phe304Leu Uncertain significance Single submitter
- CLCC1 p.Pro295Thr Uncertain significance Single submitter
- CLCC1 p.Pro439Leu Uncertain significance Single submitter
- CLCC1 p.Ser271Pro Uncertain significance Single submitter
- CLCC1 p.Ser438Ile Uncertain significance Single submitter
- CLCC1 p.Ser519Cys Conflicting Single submitter
- CLCC1 p.Ser519Phe Uncertain significance Single submitter
- CLCC1 p.Ser519Tyr Uncertain significance Single submitter
- CLCC1 p.Ser59Leu Uncertain significance Single submitter
- CLCC1 p.Ser73Cys Uncertain significance Single submitter
- CLCC1 p.Thr273Ala Uncertain significance Single submitter
- CLCC1 p.Thr309Met Uncertain significance Single submitter
- CLCC1 p.Trp23Arg Uncertain significance Single submitter
- CLCC1 p.Trp265Arg Uncertain significance Single submitter
- CLCC1 p.Trp265Ser Uncertain significance Single submitter
- CLCC1 p.Tyr274Cys Uncertain significance Single submitter
- CLCC1 p.Tyr351Cys Uncertain significance Single submitter
- CLCC1 p.Tyr76Cys Uncertain significance Single submitter
All CLCC1 variants
Pathogenic/Likely pathogenic 1
- p.Asp25Glu Multiple submitters inherited retinal dystrophy
Conflicting classifications of pathogenicity 7
- p.Ala512Val Single submitter ⚠
- p.Arg215Cys Single submitter ⚠
- p.Asn142Ser Single submitter ⚠
- p.Met404Ile Single submitter ⚠
- p.Pro483Leu Single submitter ⚠
- p.Pro496Ala Single submitter ⚠
- p.Ser519Cys Single submitter ⚠
Benign 16
- p.Ala154= Multiple submitters
- p.Ala332Val Multiple submitters
- p.Arg375Trp Multiple submitters ⚠
- p.Gly119= Multiple submitters
- p.Gly418Asp Multiple submitters
- p.Ser156Gly Multiple submitters
- p.Ser368Arg Multiple submitters
- p.Ser493Leu Multiple submitters
- p.Ser65= Multiple submitters
- p.Thr201= Multiple submitters
- c.129+13dup Single submitter
- c.231+12del Single submitter
- c.231+12dup Single submitter
- c.340-17dup Single submitter
- c.562-4del Single submitter
- p.Ala332= Single submitter
Likely benign 115
- c.797-8C>T Multiple submitters
- c.895-18G>C Multiple submitters
- p.Ile160Leu Multiple submitters
- p.Pro483= Multiple submitters
- c.1041+7A>G Single submitter
- c.1042-20T>C Single submitter
- c.129+16C>T Single submitter
- c.129+17G>A Single submitter
- c.130-14A>T Single submitter
- c.130-16C>G Single submitter
- c.130-9_130-8del Single submitter
- c.1383+14T>A Single submitter
- c.1384-11G>A Single submitter
- c.1384-12T>C Single submitter
- c.1384-17A>G Single submitter
- c.1384-19G>A Single submitter
- c.1384-5T>C Single submitter
- c.1384-8_1384-4dup Single submitter
- c.231+14T>A Single submitter
- c.231+19A>G Single submitter
- c.231+9T>C Single submitter
- c.232-10A>G Single submitter
- c.232-7G>A Single submitter
- c.232-7G>T Single submitter
- c.339+11G>C Single submitter
- c.340-23_340-20del Single submitter
- c.340-6_340-2del Single submitter
- c.561+18C>T Single submitter
- c.562-17C>T Single submitter
- c.562-6T>C Single submitter
- c.702+19G>T Single submitter
- c.702+8A>G Single submitter
- c.703-19C>G Single submitter
- c.797-10C>T Single submitter
- c.797-13T>C Single submitter
- c.797-16C>A Single submitter
- c.797-6A>C Single submitter
- c.797-6A>G Single submitter
- c.894+18T>C Single submitter
- c.895-7G>A Single submitter
- c.895-8C>T Single submitter
- p.Ala15= Single submitter
- p.Ala299= Single submitter
- p.Ala301= Single submitter
- p.Ala353= Single submitter
- p.Ala396= Single submitter
- p.Ala494= Single submitter
- p.Ala494Thr Single submitter
- p.Ala512= Single submitter
- p.Ala521= Single submitter
- p.Arg453Gln Single submitter
- p.Asn102= Single submitter
- p.Asp145= Single submitter
- p.Asp152= Single submitter
- p.Asp176= Single submitter
- p.Asp378= Single submitter
- p.Asp446= Single submitter
- p.Asp449= Single submitter
- p.Glu284= Single submitter
- p.Glu454= Single submitter
- p.Glu66= Single submitter
- p.Glu87Lys Single submitter
- p.Gly149= Single submitter
- p.Gly405= Single submitter
- p.Gly410= Single submitter
- p.His314= Single submitter
- p.His358= Single submitter
- p.Ile195= Single submitter
- p.Ile264= Single submitter
- p.Ile385= Single submitter
- p.Leu13= Single submitter
- p.Leu141= Single submitter
- p.Leu155= Single submitter
- p.Leu222= Single submitter
- p.Leu285= Single submitter
- p.Leu312= Single submitter
- p.Leu344= Single submitter
- p.Leu360= Single submitter
- p.Leu423= Single submitter
- p.Leu478= Single submitter
- p.Leu6= Single submitter
- p.Lys171= Single submitter
- p.Lys514= Single submitter
- p.Phe174= Single submitter
- p.Phe178= Single submitter
- p.Phe322= Single submitter
- p.Pro389= Single submitter
- p.Pro496= Single submitter
- p.Pro510= Single submitter
- p.Pro533= Single submitter
- p.Pro540= Single submitter
- p.Pro545= Single submitter
- p.Ser36= Single submitter
- p.Ser493= Single submitter
- p.Ser532= Single submitter
- p.Thr133= Single submitter
- p.Thr273= Single submitter
- p.Thr303= Single submitter
- p.Thr309= Single submitter
- p.Thr415= Single submitter
- p.Thr488= Single submitter
- p.Thr506= Single submitter
- p.Tyr206= Single submitter
- p.Tyr210= Single submitter
- p.Tyr282= Single submitter
- p.Tyr283= Single submitter
- p.Tyr400= Single submitter
- p.Tyr46= Single submitter
- p.Tyr68= Single submitter
- p.Tyr76= Single submitter
- p.Val207= Single submitter
- p.Val294= Single submitter
- p.Val308= Single submitter
- p.Val458= Single submitter
- p.Val459= Single submitter
Uncertain significance 181
- p.Ala245Thr Multiple submitters ⚠
- p.Ala522Thr Multiple submitters ⚠
- p.Arg208His Multiple submitters ⚠
- p.Arg377Trp Multiple submitters ⚠
- p.Arg381Trp Multiple submitters ⚠
- p.Arg401Gly Multiple submitters ⚠
- p.Arg443Trp Multiple submitters ⚠
- p.Asn142His Multiple submitters ⚠
- p.Asn142Lys Multiple submitters ⚠
- p.Asn94Ser Multiple submitters ⚠
- p.Cys10Tyr Multiple submitters ⚠
- p.Cys3Tyr Multiple submitters ⚠
- p.Glu369Lys Multiple submitters ⚠
- p.Glu507Gln Multiple submitters retinitis pigmentosa 32 ⚠
- p.Gly112Arg Multiple submitters ⚠
- p.Gly394Ser Multiple submitters ⚠
- p.Gly536Val Multiple submitters ⚠
- p.Lys514Thr Multiple submitters ⚠
- p.Met121Thr Multiple submitters ⚠
- p.Met247Ile Multiple submitters ⚠
- p.Pro114Ser Multiple submitters ⚠
- p.Pro295Leu Multiple submitters ⚠
- p.Pro376Ser Multiple submitters ⚠
- p.Pro545Leu Multiple submitters ⚠
- p.Ser348Arg Multiple submitters ⚠
- p.Ser438Arg Multiple submitters ⚠
- p.Ser49Thr Multiple submitters ⚠
- p.Ser532Gly Multiple submitters ⚠
- p.Thr415Met Multiple submitters ⚠
- p.Thr457Met Multiple submitters ⚠
- p.Trp272Arg Multiple submitters ⚠
- p.Val196Met Multiple submitters ⚠
- c.1041+1G>T Single submitter
- c.1041+3T>G Single submitter
- c.1042-3_1042-2del Single submitter
- c.1384-3T>C Single submitter
- c.231+1G>T Single submitter
- c.339+3_339+6del Single submitter
- c.339+5G>C Single submitter
- c.561+5G>A Single submitter
- c.562-1G>A Single submitter
- c.702+2T>C Single submitter
- c.796+1G>A Single submitter
- c.797-5A>G Single submitter
- p.Ala154Val Single submitter ⚠
- p.Ala301Gly Single submitter ⚠
- p.Ala325Thr Single submitter ⚠
- p.Ala343Thr Single submitter ⚠
- p.Ala353Thr Single submitter ⚠
- p.Ala450Thr Single submitter ⚠
- p.Ala511Thr Single submitter ⚠
- p.Ala515Ser Single submitter ⚠
- p.Ala534Pro Single submitter ⚠
- p.Ala534Thr Single submitter retinitis pigmentosa 32 ⚠
- p.Arg173Gln Single submitter ⚠
- p.Arg173Leu Single submitter ⚠
- p.Arg173Ter Single submitter
- p.Arg208Cys Single submitter ⚠
- p.Arg215His Single submitter ⚠
- p.Arg375Gln Single submitter ⚠
- p.Arg377Gln Single submitter ⚠
- p.Arg381Gln Single submitter ⚠
- p.Arg443Gln Single submitter ⚠
- p.Arg99= Single submitter
- p.Asn289Ser Single submitter ⚠
- p.Asn31Ser Single submitter ⚠
- p.Asp145Gly Single submitter ⚠
- p.Asp176fs Single submitter
- p.Asp21Gly Single submitter ⚠
- p.Asp276Gly Single submitter ⚠
- p.Asp386Asn Single submitter ⚠
- p.Asp390Asn Single submitter ⚠
- p.Asp427Ala Single submitter ⚠
- p.Asp429Gly Single submitter ⚠
- p.Asp446Asn Single submitter ⚠
- p.Asp53fs Single submitter
- p.Asp53Gly Single submitter ⚠
- p.Asp544His Single submitter ⚠
- p.Asp88_Tyr89insTer Single submitter
- p.Cys550Ser Single submitter ⚠
- p.Cys60Ser Single submitter ⚠
- p.Gln239Ter Single submitter
- p.Gln241His Single submitter ⚠
- p.Gln409Pro Single submitter ⚠
- p.Glu116Gly Single submitter ⚠
- p.Glu248Gly Single submitter ⚠
- p.Glu266Val Single submitter ⚠
- p.Glu321Ala Single submitter ⚠
- p.Glu421Gln Single submitter ⚠
- p.Glu485Ala Single submitter ⚠
- p.Glu80fs Single submitter
- p.Gly354Arg Single submitter ⚠
- p.Gly365Ser Single submitter ⚠
- p.Gly405fs Single submitter
- p.Gly536Arg Single submitter ⚠
- p.Gly551Ser Single submitter ⚠
- p.His462Arg Single submitter ⚠
- p.Ile128Val Single submitter ⚠
- p.Ile160Thr Single submitter ⚠
- p.Ile160Val Single submitter ⚠
- p.Ile195Val Single submitter ⚠
- p.Ile264Phe Single submitter ⚠
- p.Ile291Val Single submitter ⚠
- p.Ile315Thr Single submitter ⚠
- p.Ile340Thr Single submitter ⚠
- p.Ile78Met Single submitter ⚠
- p.Leu12fs Single submitter
- p.Leu134fs Single submitter
- p.Leu134Phe Single submitter ⚠
- p.Leu134Ser Single submitter ⚠
- p.Leu141Phe Single submitter ⚠
- p.Leu155Ile Single submitter ⚠
- p.Leu189Pro Single submitter ⚠
- p.Leu190Ile Single submitter ⚠
- p.Leu193Phe Single submitter ⚠
- p.Leu2Met Single submitter ⚠
- p.Leu430Ter Single submitter
- p.Leu74Ser Single submitter ⚠
- p.Leu7His Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Lys147Glu Single submitter ⚠
- p.Lys355_Arg361del Single submitter
- p.Lys470Gln Single submitter ⚠
- p.Lys52Arg Single submitter ⚠
- p.Lys70Glu Single submitter ⚠
- p.Met121Val Single submitter ⚠
- p.Met247Thr Single submitter ⚠
- p.Met327Leu Single submitter ⚠
- p.Phe223Ile Single submitter ⚠
- p.Phe304Leu Single submitter ⚠
- p.Phe349Ser Single submitter ⚠
- p.Pro114Leu Single submitter ⚠
- p.Pro278fs Single submitter
- p.Pro295Thr Single submitter ⚠
- p.Pro366Thr Single submitter ⚠
- p.Pro376Leu Single submitter ⚠
- p.Pro411Arg Single submitter ⚠
- p.Pro439Arg Single submitter ⚠
- p.Pro439Leu Single submitter ⚠
- p.Pro439Ser Single submitter ⚠
- p.Pro540Ser Single submitter ⚠
- p.Ser156fs Single submitter
- p.Ser271Pro Single submitter ⚠
- p.Ser368Gly Single submitter ⚠
- p.Ser4= Single submitter
- p.Ser438Ile Single submitter ⚠
- p.Ser461Gly Single submitter ⚠
- p.Ser464Leu Single submitter ⚠
- p.Ser487Arg Single submitter ⚠
- p.Ser498Pro Single submitter ⚠
- p.Ser509Ter Single submitter
- p.Ser519Phe Single submitter ⚠
- p.Ser519Tyr Single submitter ⚠
- p.Ser532Thr Single submitter ⚠
- p.Ser59Leu Single submitter ⚠
- p.Ser73Cys Single submitter ⚠
- p.Thr201Ala Single submitter ⚠
- p.Thr273Ala Single submitter ⚠
- p.Thr306del Single submitter
- p.Thr309Arg Single submitter ⚠
- p.Thr309Met Single submitter ⚠
- p.Thr407Ala Single submitter ⚠
- p.Thr407fs Single submitter
- p.Thr469Ile Single submitter ⚠
- p.Trp146Gly Single submitter ⚠
- p.Trp170Ter Single submitter
- p.Trp23Arg Single submitter ⚠
- p.Trp265Arg Single submitter ⚠
- p.Trp265Ser Single submitter ⚠
- p.Trp267Arg Single submitter ⚠
- p.Tyr274Cys Single submitter ⚠
- p.Tyr351Cys Single submitter ⚠
- p.Tyr387Phe Single submitter ⚠
- p.Tyr400Phe Single submitter ⚠
- p.Tyr76_Lys77insTer Single submitter
- p.Tyr76Asn Single submitter ⚠
- p.Tyr76Asp Single submitter ⚠
- p.Tyr76Cys Single submitter ⚠
- p.Tyr89His Single submitter ⚠
- p.Val466Ala Single submitter ⚠
- p.Glu175Lys No assertion criteria inherited retinal dystrophy ⚠