CLUAP1 — 448 ClinVar variants
All ClinVar germline CLUAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 239 flagged for review →
1 Pathogenic · 3 Conflicting · 18 Benign · 150 Likely benign · 276 Uncertain significance
Full CLUAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 239
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.
-
CLUAP1 p.Leu273Phe
Pathogenic
Single submitter
Leber congenital amaurosis
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 111
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLUAP1 p.Ala152Glu Uncertain significance Multiple submitters
- CLUAP1 p.Ala339Thr Uncertain significance Multiple submitters
- CLUAP1 p.Arg228Gln Uncertain significance Multiple submitters
- CLUAP1 p.Arg332Gln Uncertain significance Multiple submitters
- CLUAP1 p.Asn296Lys Uncertain significance Multiple submitters
- CLUAP1 p.Asn364Ser Uncertain significance Multiple submitters
- CLUAP1 p.Asp322Asn Uncertain significance Multiple submitters
- CLUAP1 p.Glu96Asp Uncertain significance Multiple submitters
- CLUAP1 p.Gly359Val Uncertain significance Multiple submitters
- CLUAP1 p.Ile118Met Uncertain significance Multiple submitters
- CLUAP1 p.Ile118Thr Uncertain significance Multiple submitters
- CLUAP1 p.Ile352Phe Uncertain significance Multiple submitters
- CLUAP1 p.Ile352Thr Uncertain significance Multiple submitters
- CLUAP1 p.Ile79Val Uncertain significance Multiple submitters
- CLUAP1 p.Leu104His Uncertain significance Multiple submitters
- CLUAP1 p.Met108Leu Uncertain significance Multiple submitters
- CLUAP1 p.Met108Val Uncertain significance Multiple submitters
- CLUAP1 p.Met374Leu Uncertain significance Multiple submitters
- CLUAP1 p.Met374Thr Uncertain significance Multiple submitters
- CLUAP1 p.Pro393Ala Uncertain significance Multiple submitters
- CLUAP1 p.Ser367Leu Uncertain significance Multiple submitters
- CLUAP1 p.Thr355Met Uncertain significance Multiple submitters
- CLUAP1 p.Thr394Ile Uncertain significance Multiple submitters
- CLUAP1 p.Tyr46Cys Uncertain significance Multiple submitters
- CLUAP1 p.Ala144Pro Uncertain significance Single submitter
- CLUAP1 p.Ala173Pro Uncertain significance Single submitter
- CLUAP1 p.Ala188Thr Uncertain significance Single submitter
- CLUAP1 p.Ala70Asp Uncertain significance Single submitter
- CLUAP1 p.Ala77Thr Uncertain significance Single submitter
- CLUAP1 p.Ala93Val Uncertain significance Single submitter
- CLUAP1 p.Arg165Thr Uncertain significance Single submitter
- CLUAP1 p.Arg226Gly Uncertain significance Single submitter
- CLUAP1 p.Arg230Leu Uncertain significance Single submitter
- CLUAP1 p.Arg401Gln Uncertain significance Single submitter
- CLUAP1 p.Arg401Gly Uncertain significance Single submitter
- CLUAP1 p.Arg62Gln Uncertain significance Single submitter
- CLUAP1 p.Arg7Cys Uncertain significance Single submitter
- CLUAP1 p.Arg7Leu Uncertain significance Single submitter
- CLUAP1 p.Asn124Ser Uncertain significance Single submitter
- CLUAP1 p.Asn205Ile Uncertain significance Single submitter
- CLUAP1 p.Asn227Lys Uncertain significance Single submitter
- CLUAP1 p.Asn411Ser Uncertain significance Single submitter
- CLUAP1 p.Asp257Glu Uncertain significance Single submitter
- CLUAP1 p.Asp312Asn Uncertain significance Single submitter
- CLUAP1 p.Asp386Glu Uncertain significance Single submitter
- CLUAP1 p.Asp55Glu Uncertain significance Single submitter
- CLUAP1 p.Asp5Gly Uncertain significance Single submitter
- CLUAP1 p.Asp5His Uncertain significance Single submitter
- CLUAP1 p.Asp90Gly Uncertain significance Single submitter
- CLUAP1 p.Gln319Glu Uncertain significance Single submitter
- CLUAP1 p.Gln337Arg Uncertain significance Single submitter
- CLUAP1 p.Gln345His Uncertain significance Single submitter
- CLUAP1 p.Glu11Lys Uncertain significance Single submitter
- CLUAP1 p.Glu161Lys Uncertain significance Single submitter
- CLUAP1 p.Glu177Gly Uncertain significance Single submitter
- CLUAP1 p.Glu177Lys Uncertain significance Single submitter
- CLUAP1 p.Glu232Gly Uncertain significance Single submitter
- CLUAP1 p.Glu327Gly Uncertain significance Single submitter
- CLUAP1 p.Glu375Asp Uncertain significance Single submitter
- CLUAP1 p.Glu387Asp Uncertain significance Single submitter
- CLUAP1 p.Glu47Ala Uncertain significance Single submitter
- CLUAP1 p.Gly112Glu Uncertain significance Single submitter
- CLUAP1 p.Gly309Glu Uncertain significance Single submitter
- CLUAP1 p.Gly33Glu Uncertain significance Single submitter
- CLUAP1 p.Gly346Glu Uncertain significance Single submitter
- CLUAP1 p.Gly354Ala Uncertain significance Single submitter
- CLUAP1 p.Gly91Arg Uncertain significance Single submitter
- CLUAP1 p.His21Arg Uncertain significance Single submitter
- CLUAP1 p.His78Leu Uncertain significance Single submitter
- CLUAP1 p.Ile100Thr Uncertain significance Single submitter
- CLUAP1 p.Ile118Val Uncertain significance Single submitter
- CLUAP1 p.Ile147Ser Uncertain significance Single submitter
- CLUAP1 p.Ile187Thr Uncertain significance Single submitter
- CLUAP1 p.Ile316Met Uncertain significance Single submitter
- CLUAP1 p.Ile316Thr Uncertain significance Single submitter
- CLUAP1 p.Ile352Leu Uncertain significance Single submitter
- CLUAP1 p.Ile66Phe Uncertain significance Single submitter
- CLUAP1 p.Ile79Arg Uncertain significance Single submitter
- CLUAP1 p.Ile79Thr Uncertain significance Single submitter
- CLUAP1 p.Leu298Ile Uncertain significance Single submitter
- CLUAP1 p.Leu298Pro Uncertain significance Single submitter
- CLUAP1 p.Leu34Phe Uncertain significance Single submitter
- CLUAP1 p.Leu6Arg Uncertain significance Single submitter
- CLUAP1 p.Leu98Pro Uncertain significance Single submitter
- CLUAP1 p.Lys219Asn Uncertain significance Single submitter
- CLUAP1 p.Lys299Arg Uncertain significance Single submitter
- CLUAP1 p.Lys350Arg Uncertain significance Single submitter
- CLUAP1 p.Lys402Gln Uncertain significance Single submitter
- CLUAP1 p.Lys99Asn Uncertain significance Single submitter
- CLUAP1 p.Met12Lys Uncertain significance Single submitter
- CLUAP1 p.Met160Thr Uncertain significance Single submitter
- CLUAP1 p.Met160Val Uncertain significance Single submitter
- CLUAP1 p.Met167Ile Uncertain significance Single submitter
- CLUAP1 p.Met279Ile Uncertain significance Single submitter
- CLUAP1 p.Met279Thr Uncertain significance Single submitter
- CLUAP1 p.Phe128Ser Uncertain significance Single submitter
- CLUAP1 p.Phe27Ile Uncertain significance Single submitter
- CLUAP1 p.Phe3Ser Uncertain significance Single submitter
- CLUAP1 p.Pro30Arg Uncertain significance Single submitter
- CLUAP1 p.Pro48His Uncertain significance Single submitter
- CLUAP1 p.Ser2Cys Uncertain significance Single submitter
- CLUAP1 p.Ser2Phe Uncertain significance Single submitter
- CLUAP1 p.Ser314Leu Uncertain significance Single submitter
- CLUAP1 p.Ser326Gly Uncertain significance Single submitter
- CLUAP1 p.Thr148Ile Uncertain significance Single submitter
- CLUAP1 p.Thr258Ile Uncertain significance Single submitter
- CLUAP1 p.Tyr18His Uncertain significance Single submitter
- CLUAP1 p.Val119Gly Uncertain significance Single submitter
- CLUAP1 p.Val35Leu Uncertain significance Single submitter
- CLUAP1 p.Val400Leu Uncertain significance Single submitter
- CLUAP1 p.Val43Ala Uncertain significance Single submitter
Predictors split 124
The independent predictors disagree with each other — read with care.
- CLUAP1 p.Ala188Gly Uncertain significance Multiple submitters
- CLUAP1 p.Arg20Gln Uncertain significance Multiple submitters
- CLUAP1 p.Arg304His Uncertain significance Multiple submitters
- CLUAP1 p.Arg401Trp Benign Multiple submitters
- CLUAP1 p.Asp315His Uncertain significance Multiple submitters
- CLUAP1 p.Asp325Asn Uncertain significance Multiple submitters
- CLUAP1 p.Asp366Tyr Uncertain significance Multiple submitters
- CLUAP1 p.Gln255His Uncertain significance Multiple submitters
- CLUAP1 p.Glu270Ala Uncertain significance Multiple submitters
- CLUAP1 p.Glu365Gly Uncertain significance Multiple submitters
- CLUAP1 p.Glu380Gln Uncertain significance Multiple submitters
- CLUAP1 p.Glu380Lys Uncertain significance Multiple submitters
- CLUAP1 p.Lys133Glu Uncertain significance Multiple submitters
-
CLUAP1 p.Lys200Glu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- CLUAP1 p.Lys221Arg Uncertain significance Multiple submitters
- CLUAP1 p.Lys335Asn Likely benign Multiple submitters
- CLUAP1 p.Lys85Arg Uncertain significance Multiple submitters
- CLUAP1 p.Met24Val Uncertain significance Multiple submitters
- CLUAP1 p.Pro53Leu Uncertain significance Multiple submitters
- CLUAP1 p.Ser370Thr Uncertain significance Multiple submitters
- CLUAP1 p.Thr83Ile Uncertain significance Multiple submitters
- CLUAP1 p.Val196Phe Benign Multiple submitters
- CLUAP1 p.Ala107Ser Uncertain significance Single submitter
- CLUAP1 p.Ala135Thr Uncertain significance Single submitter
- CLUAP1 p.Ala140Thr Uncertain significance Single submitter
- CLUAP1 p.Ala15Thr Uncertain significance Single submitter
- CLUAP1 p.Ala15Val Uncertain significance Single submitter
- CLUAP1 p.Ala211Gly Uncertain significance Single submitter
- CLUAP1 p.Ala287Thr Uncertain significance Single submitter
- CLUAP1 p.Ala74Val Uncertain significance Single submitter
- CLUAP1 p.Arg230Gln Uncertain significance Single submitter
- CLUAP1 p.Arg283Ser Uncertain significance Single submitter
- CLUAP1 p.Arg28Cys Uncertain significance Single submitter
- CLUAP1 p.Arg28His Uncertain significance Single submitter
- CLUAP1 p.Arg304Cys Uncertain significance Single submitter
- CLUAP1 p.Arg304Ser Uncertain significance Single submitter
- CLUAP1 p.Arg332Trp Uncertain significance Single submitter
- CLUAP1 p.Arg351Cys Uncertain significance Single submitter
- CLUAP1 p.Arg351His Uncertain significance Single submitter
- CLUAP1 p.Arg351Leu Uncertain significance Single submitter
- CLUAP1 p.Arg398Gln Uncertain significance Single submitter
- CLUAP1 p.Arg45Lys Uncertain significance Single submitter
- CLUAP1 p.Asn124Lys Uncertain significance Single submitter
- CLUAP1 p.Asn364His Uncertain significance Single submitter
- CLUAP1 p.Asn411Lys Uncertain significance Single submitter
- CLUAP1 p.Asp122Gly Uncertain significance Single submitter
- CLUAP1 p.Asp129Gly Uncertain significance Single submitter
- CLUAP1 p.Asp156Glu Uncertain significance Single submitter
- CLUAP1 p.Asp313His Uncertain significance Single submitter
- CLUAP1 p.Asp360Asn Uncertain significance Single submitter
-
CLUAP1 p.Asp362Asn
Uncertain significance
Single submitter
inherited retinal dystrophy
- CLUAP1 p.Asp373Asn Uncertain significance Single submitter
- CLUAP1 p.Asp376His Uncertain significance Single submitter
- CLUAP1 p.Asp377Gly Uncertain significance Single submitter
- CLUAP1 p.Asp381Val Uncertain significance Single submitter
- CLUAP1 p.Asp383Asn Uncertain significance Single submitter
- CLUAP1 p.Asp386Asn Uncertain significance Single submitter
- CLUAP1 p.Cys240Arg Uncertain significance Single submitter
- CLUAP1 p.Gln195His Uncertain significance Single submitter
- CLUAP1 p.Gln271Lys Uncertain significance Single submitter
- CLUAP1 p.Gln272Glu Uncertain significance Single submitter
- CLUAP1 p.Glu114Lys Uncertain significance Single submitter
- CLUAP1 p.Glu114Val Uncertain significance Single submitter
- CLUAP1 p.Glu120Lys Uncertain significance Single submitter
- CLUAP1 p.Glu163Ala Uncertain significance Single submitter
- CLUAP1 p.Glu163Gln Uncertain significance Single submitter
- CLUAP1 p.Glu180Lys Uncertain significance Single submitter
- CLUAP1 p.Glu191Gln Uncertain significance Single submitter
- CLUAP1 p.Glu218Lys Uncertain significance Single submitter
- CLUAP1 p.Glu232Asp Uncertain significance Single submitter
- CLUAP1 p.Glu244Asp Uncertain significance Single submitter
- CLUAP1 p.Glu249Lys Uncertain significance Single submitter
- CLUAP1 p.Glu251Lys Uncertain significance Single submitter
- CLUAP1 p.Glu25Gln Uncertain significance Single submitter
- CLUAP1 p.Glu261Gln Uncertain significance Single submitter
- CLUAP1 p.Glu274Gln Uncertain significance Single submitter
- CLUAP1 p.Glu280Asp Uncertain significance Single submitter
- CLUAP1 p.Glu323Lys Uncertain significance Single submitter
- CLUAP1 p.Glu387Lys Uncertain significance Single submitter
- CLUAP1 p.Glu47Asp Uncertain significance Single submitter
- CLUAP1 p.Gly112Arg Uncertain significance Single submitter
- CLUAP1 p.Gly131Asp Uncertain significance Single submitter
- CLUAP1 p.Gly131Cys Uncertain significance Single submitter
- CLUAP1 p.Gly159Ser Uncertain significance Single submitter
- CLUAP1 p.His78Arg Uncertain significance Single submitter
- CLUAP1 p.Ile100Val Uncertain significance Single submitter
- CLUAP1 p.Ile134Thr Uncertain significance Single submitter
- CLUAP1 p.Ile172Val Uncertain significance Single submitter
- CLUAP1 p.Ile189Val Uncertain significance Single submitter
- CLUAP1 p.Ile66Met Uncertain significance Single submitter
- CLUAP1 p.Ile69Phe Uncertain significance Single submitter
- CLUAP1 p.Ile79Leu Uncertain significance Single submitter
- CLUAP1 p.Leu157Trp Uncertain significance Single submitter
- CLUAP1 p.Leu193Phe Uncertain significance Single submitter
- CLUAP1 p.Leu224Val Uncertain significance Single submitter
- CLUAP1 p.Leu406Pro Uncertain significance Single submitter
- CLUAP1 p.Leu86Ile Uncertain significance Single submitter
- CLUAP1 p.Lys109Thr Uncertain significance Single submitter
- CLUAP1 p.Lys111Glu Uncertain significance Single submitter
- CLUAP1 p.Lys127Arg Uncertain significance Single submitter
- CLUAP1 p.Lys127Thr Uncertain significance Single submitter
- CLUAP1 p.Lys216Arg Uncertain significance Single submitter
- CLUAP1 p.Lys219Arg Uncertain significance Single submitter
- CLUAP1 p.Lys299Gln Uncertain significance Single submitter
- CLUAP1 p.Lys395Glu Uncertain significance Single submitter
- CLUAP1 p.Lys99Arg Uncertain significance Single submitter
- CLUAP1 p.Met12Thr Uncertain significance Single submitter
- CLUAP1 p.Met12Val Uncertain significance Single submitter
- CLUAP1 p.Ser102Phe Uncertain significance Single submitter
- CLUAP1 p.Ser149Tyr Uncertain significance Single submitter
- CLUAP1 p.Ser208Phe Uncertain significance Single submitter
- CLUAP1 p.Ser326Arg Uncertain significance Single submitter
- CLUAP1 p.Ser36Tyr Uncertain significance Single submitter
- CLUAP1 p.Ser370Arg Uncertain significance Single submitter
- CLUAP1 p.Ser390Tyr Uncertain significance Single submitter
- CLUAP1 p.Thr181Ser Uncertain significance Single submitter
- CLUAP1 p.Thr290Ser Uncertain significance Single submitter
- CLUAP1 p.Thr338Ile Uncertain significance Single submitter
- CLUAP1 p.Tyr105Cys Uncertain significance Single submitter
- CLUAP1 p.Tyr155Cys Uncertain significance Single submitter
- CLUAP1 p.Tyr155His Uncertain significance Single submitter
- CLUAP1 p.Val162Leu Uncertain significance Single submitter
- CLUAP1 p.Val35Ile Uncertain significance Single submitter
- CLUAP1 p.Val56Met Uncertain significance Single submitter
All CLUAP1 variants
Pathogenic 1
- p.Leu273Phe Single submitter Leber congenital amaurosis ⚠
Conflicting classifications of pathogenicity 3
- p.Asn397Ser Single submitter ⚠
- p.Asp379Glu Single submitter ⚠
- p.Thr394Ala Single submitter ⚠
Benign 18
- c.134+9G>T Multiple submitters
- c.22+18C>G Multiple submitters
- c.400-3C>T Multiple submitters
- c.856-16A>T Multiple submitters
- c.929-3T>C Multiple submitters
- p.Ala107Val Multiple submitters
- p.Ala68Ser Multiple submitters
- p.Arg401Trp Multiple submitters ⚠
- p.Leu104= Multiple submitters
- p.Leu34= Multiple submitters
- p.Lys307Gln Multiple submitters
- p.Thr355= Multiple submitters
- p.Val196Phe Multiple submitters ⚠
- c.1037-19A>G Single submitter
- c.1093-8dup Single submitter
- c.22+13del Single submitter
- p.Ala144= Single submitter
- p.Tyr268= Single submitter
Likely benign 150
- p.Lys335Asn Multiple submitters ⚠
- c.1036+10C>T Single submitter
- c.1036+11G>A Single submitter
- c.1036+14T>C Single submitter
- c.1036+17C>G Single submitter
- c.1036+17C>T Single submitter
- c.1036+18G>A Single submitter
- c.1036+18G>T Single submitter
- c.1036+7C>G Single submitter
- c.1036+7C>T Single submitter
- c.1036+8G>A Single submitter
- c.1037-10T>G Single submitter
- c.1037-6T>C Single submitter
- c.1037-8_1037-6del Single submitter
- c.1092+11C>G Single submitter
- c.1092+11C>T Single submitter
- c.1092+12G>A Single submitter
- c.1092+16C>T Single submitter
- c.1092+18C>T Single submitter
- c.1092+7C>T Single submitter
- c.1092+8C>T Single submitter
- c.1093-4A>G Single submitter
- c.134+10G>T Single submitter
- c.134+16del Single submitter
- c.134+8C>T Single submitter
- c.134+9G>A Single submitter
- c.135-12C>T Single submitter
- c.135-20C>G Single submitter
- c.135-7T>C Single submitter
- c.219+17T>A Single submitter
- c.219+9A>G Single submitter
- c.22+14G>A Single submitter
- c.22+20C>T Single submitter
- c.220-12G>T Single submitter
- c.220-14T>G Single submitter
- c.23-17T>C Single submitter
- c.23-20T>C Single submitter
- c.399+11C>A Single submitter
- c.399+20T>C Single submitter
- c.399+7A>G Single submitter
- c.399+8C>G Single submitter
- c.400-16G>C Single submitter
- c.400-20T>G Single submitter
- c.495+13G>A Single submitter
- c.495+16C>T Single submitter
- c.496-5C>T Single submitter
- c.496-9G>C Single submitter
- c.579+12_579+13del Single submitter
- c.579+13del Single submitter
- c.579+8G>A Single submitter
- c.579+9A>C Single submitter
- c.580-14C>G Single submitter
- c.580-18A>G Single submitter
- c.713+12C>G Single submitter
- c.713+13A>C Single submitter
- c.713+17G>A Single submitter
- c.713+8T>A Single submitter
- c.714-10C>G Single submitter
- c.714-19T>C Single submitter
- c.714-20del Single submitter
- c.714-3del Single submitter
- c.714-4T>C Single submitter
- c.855+16C>G Single submitter
- c.855+17C>T Single submitter
- c.855+20T>C Single submitter
- c.855+7T>C Single submitter
- c.856-18_856-17del Single submitter
- c.928+11G>A Single submitter
- c.928+16G>A Single submitter
- c.928+17T>C Single submitter
- c.928+9G>T Single submitter
- c.929-17G>A Single submitter
- c.929-18del Single submitter
- c.929-20C>T Single submitter
- c.929-5G>A Single submitter
- c.929-6T>C Single submitter
- p.Ala140= Single submitter
- p.Ala152= Single submitter
- p.Ala93= Single submitter
- p.Arg283= Single submitter
- p.Arg62= Single submitter
- p.Asn205= Single submitter
- p.Asn311= Single submitter
- p.Asp257= Single submitter
- p.Asp317= Single submitter
- p.Asp321= Single submitter
- p.Asp377= Single submitter
- p.Asp378= Single submitter
- p.Asp379= Single submitter
- p.Asp382= Single submitter
- p.Asp386= Single submitter
- p.Asp5= Single submitter
- p.Asp55= Single submitter
- p.Gln357= Single submitter
- p.Glu121= Single submitter
- p.Glu191= Single submitter
- p.Glu218= Single submitter
- p.Glu301= Single submitter
- p.Glu323Asp Single submitter
- p.Glu387= Single submitter
- p.Glu47= Single submitter
- p.Gly112= Single submitter
- p.Gly17= Single submitter
- p.Gly349= Single submitter
- p.Gly91= Single submitter
- p.His21= Single submitter
- p.Ile147= Single submitter
- p.Ile318= Single submitter
- p.Leu154= Single submitter
- p.Leu158= Single submitter
- p.Leu193= Single submitter
- p.Leu202= Single submitter
- p.Leu231= Single submitter
- p.Leu266= Single submitter
- p.Leu291= Single submitter
- p.Leu384= Single submitter
- p.Leu39= Single submitter
- p.Lys125= Single submitter
- p.Lys150= Single submitter
- p.Lys221= Single submitter
- p.Lys76= Single submitter
- p.Lys95= Single submitter
- p.Lys99= Single submitter
- p.Phe65= Single submitter
- p.Pro239= Single submitter
- p.Pro393= Single submitter
- p.Pro405= Single submitter
- p.Pro53= Single submitter
- p.Ser132= Single submitter
- p.Ser208= Single submitter
- p.Ser236= Single submitter
- p.Ser314= Single submitter
- p.Ser324= Single submitter
- p.Ser361= Single submitter
- p.Ser367= Single submitter
- p.Thr101= Single submitter
- p.Thr169= Single submitter
- p.Thr181= Single submitter
- p.Thr199= Single submitter
- p.Thr248= Single submitter
- p.Thr338= Single submitter
- p.Thr338Pro Single submitter
- p.Thr58= Single submitter
- p.Thr75= Single submitter
- p.Thr83= Single submitter
- p.Tyr259= Single submitter
- p.Tyr46= Single submitter
- p.Val103= Single submitter
- p.Val38= Single submitter
- p.Val400= Single submitter
Uncertain significance 276
- p.Ala152Glu Multiple submitters ⚠
- p.Ala188Gly Multiple submitters ⚠
- p.Ala339Thr Multiple submitters ⚠
- p.Arg20Gln Multiple submitters ⚠
- p.Arg228Gln Multiple submitters ⚠
- p.Arg304His Multiple submitters ⚠
- p.Arg332Gln Multiple submitters ⚠
- p.Asn296Lys Multiple submitters ⚠
- p.Asn364Ser Multiple submitters ⚠
- p.Asp315His Multiple submitters ⚠
- p.Asp322Asn Multiple submitters ⚠
- p.Asp325Asn Multiple submitters ⚠
- p.Asp366Tyr Multiple submitters ⚠
- p.Gln255His Multiple submitters ⚠
- p.Glu270Ala Multiple submitters ⚠
- p.Glu365Gly Multiple submitters ⚠
- p.Glu380Gln Multiple submitters ⚠
- p.Glu380Lys Multiple submitters ⚠
- p.Glu96Asp Multiple submitters ⚠
- p.Gly359Val Multiple submitters ⚠
- p.Ile118Met Multiple submitters ⚠
- p.Ile118Thr Multiple submitters ⚠
- p.Ile352Phe Multiple submitters ⚠
- p.Ile352Thr Multiple submitters ⚠
- p.Ile79Val Multiple submitters ⚠
- p.Leu104His Multiple submitters ⚠
- p.Lys133Glu Multiple submitters ⚠
- p.Lys200Glu Multiple submitters inherited retinal dystrophy ⚠
- p.Lys221Arg Multiple submitters ⚠
- p.Lys85Arg Multiple submitters ⚠
- p.Met108Leu Multiple submitters ⚠
- p.Met108Val Multiple submitters ⚠
- p.Met24Val Multiple submitters ⚠
- p.Met374Leu Multiple submitters ⚠
- p.Met374Thr Multiple submitters ⚠
- p.Pro393Ala Multiple submitters ⚠
- p.Pro53Leu Multiple submitters ⚠
- p.Ser367Leu Multiple submitters ⚠
- p.Ser370Thr Multiple submitters ⚠
- p.Thr355Met Multiple submitters ⚠
- p.Thr394Ile Multiple submitters ⚠
- p.Thr83Ile Multiple submitters ⚠
- p.Tyr46Cys Multiple submitters ⚠
- c.1092+3A>G Single submitter
- c.134+1G>T Single submitter
- c.134+4C>G Single submitter
- c.134+4C>T Single submitter
- c.134+5G>A Single submitter
- c.134+5G>T Single submitter
- c.135-3T>C Single submitter
- c.14_22+16del Single submitter
- c.22+5G>A Single submitter
- c.399+4A>C Single submitter
- c.399+5G>T Single submitter
- c.400-1G>C Single submitter
- c.495+1G>T Single submitter
- c.495+3A>C Single submitter
- c.495+3A>T Single submitter
- c.496-3_496-2insGGA Single submitter
- c.579+1G>T Single submitter
- c.713+1G>T Single submitter
- c.714-2A>T Single submitter
- c.856-14T>G Single submitter
- c.928+1G>A Single submitter
- c.928+6G>A Single submitter
- p.Ala107Ser Single submitter ⚠
- p.Ala135Thr Single submitter ⚠
- p.Ala140Thr Single submitter ⚠
- p.Ala144Pro Single submitter ⚠
- p.Ala15Thr Single submitter ⚠
- p.Ala15Val Single submitter ⚠
- p.Ala173Pro Single submitter ⚠
- p.Ala188Thr Single submitter ⚠
- p.Ala211Gly Single submitter ⚠
- p.Ala211Pro Single submitter
- p.Ala287Thr Single submitter ⚠
- p.Ala70Asp Single submitter ⚠
- p.Ala74Val Single submitter ⚠
- p.Ala77Thr Single submitter ⚠
- p.Ala93Val Single submitter ⚠
- p.Arg141fs Single submitter
- p.Arg165Thr Single submitter ⚠
- p.Arg20Ter Single submitter
- p.Arg226Gly Single submitter ⚠
- p.Arg230Gln Single submitter ⚠
- p.Arg230Leu Single submitter ⚠
- p.Arg283Ser Single submitter ⚠
- p.Arg28Cys Single submitter ⚠
- p.Arg28His Single submitter ⚠
- p.Arg304Cys Single submitter ⚠
- p.Arg304Ser Single submitter ⚠
- p.Arg332Trp Single submitter ⚠
- p.Arg351Cys Single submitter ⚠
- p.Arg351His Single submitter ⚠
- p.Arg351Leu Single submitter ⚠
- p.Arg398Gln Single submitter ⚠
- p.Arg401Gln Single submitter ⚠
- p.Arg401Gly Single submitter ⚠
- p.Arg45Lys Single submitter ⚠
- p.Arg62Gln Single submitter ⚠
- p.Arg62Ter Single submitter
- p.Arg7= Single submitter
- p.Arg7Cys Single submitter ⚠
- p.Arg7Leu Single submitter ⚠
- p.Asn124Lys Single submitter ⚠
- p.Asn124Ser Single submitter ⚠
- p.Asn205Ile Single submitter ⚠
- p.Asn227Lys Single submitter ⚠
- p.Asn364= Single submitter
- p.Asn364His Single submitter ⚠
- p.Asn411Lys Single submitter ⚠
- p.Asn411Ser Single submitter ⚠
- p.Asp122Gly Single submitter ⚠
- p.Asp129Gly Single submitter ⚠
- p.Asp156Glu Single submitter ⚠
- p.Asp257Glu Single submitter ⚠
- p.Asp312Asn Single submitter ⚠
- p.Asp313His Single submitter ⚠
- p.Asp360Asn Single submitter ⚠
- p.Asp362Asn Single submitter inherited retinal dystrophy ⚠
- p.Asp373Asn Single submitter ⚠
- p.Asp376His Single submitter ⚠
- p.Asp377Gly Single submitter ⚠
- p.Asp381Val Single submitter ⚠
- p.Asp383Asn Single submitter ⚠
- p.Asp386Asn Single submitter ⚠
- p.Asp386Glu Single submitter ⚠
- p.Asp55Glu Single submitter ⚠
- p.Asp5Gly Single submitter ⚠
- p.Asp5His Single submitter ⚠
- p.Asp90Gly Single submitter ⚠
- p.Cys240Arg Single submitter ⚠
- p.Gln195His Single submitter ⚠
- p.Gln271Lys Single submitter ⚠
- p.Gln272del Single submitter
- p.Gln272Glu Single submitter ⚠
- p.Gln295Ter Single submitter
- p.Gln319Glu Single submitter ⚠
- p.Gln337Arg Single submitter ⚠
- p.Gln345His Single submitter ⚠
- p.Glu114Lys Single submitter ⚠
- p.Glu114Val Single submitter ⚠
- p.Glu11Lys Single submitter ⚠
- p.Glu120Lys Single submitter ⚠
- p.Glu161Lys Single submitter ⚠
- p.Glu163Ala Single submitter ⚠
- p.Glu163Gln Single submitter ⚠
- p.Glu177Gly Single submitter ⚠
- p.Glu177Lys Single submitter ⚠
- p.Glu180Lys Single submitter ⚠
- p.Glu191Gln Single submitter ⚠
- p.Glu210Ter Single submitter
- p.Glu218Lys Single submitter ⚠
- p.Glu218Ter Single submitter
- p.Glu232Asp Single submitter ⚠
- p.Glu232Gly Single submitter ⚠
- p.Glu244Asp Single submitter ⚠
- p.Glu249Lys Single submitter ⚠
- p.Glu251Lys Single submitter ⚠
- p.Glu25Gln Single submitter ⚠
- p.Glu261Gln Single submitter ⚠
- p.Glu274Gln Single submitter ⚠
- p.Glu280Asp Single submitter ⚠
- p.Glu285= Single submitter
- p.Glu323Lys Single submitter ⚠
- p.Glu327Gly Single submitter ⚠
- p.Glu375Asp Single submitter ⚠
- p.Glu380_Asp382del Single submitter
- p.Glu387Asp Single submitter ⚠
- p.Glu387Lys Single submitter ⚠
- p.Glu47Ala Single submitter ⚠
- p.Glu47Asp Single submitter ⚠
- p.Glu47Ter Single submitter
- p.Gly112Arg Single submitter ⚠
- p.Gly112Glu Single submitter ⚠
- p.Gly131Asp Single submitter ⚠
- p.Gly131Cys Single submitter ⚠
- p.Gly159Ser Single submitter ⚠
- p.Gly309Glu Single submitter ⚠
- p.Gly33Glu Single submitter ⚠
- p.Gly346Glu Single submitter ⚠
- p.Gly354Ala Single submitter ⚠
- p.Gly91Arg Single submitter ⚠
- p.His21Arg Single submitter ⚠
- p.His78Arg Single submitter ⚠
- p.His78Leu Single submitter ⚠
- p.Ile100Thr Single submitter ⚠
- p.Ile100Val Single submitter ⚠
- p.Ile118Val Single submitter ⚠
- p.Ile134Thr Single submitter ⚠
- p.Ile147Ser Single submitter ⚠
- p.Ile172Val Single submitter ⚠
- p.Ile187Thr Single submitter ⚠
- p.Ile189Val Single submitter ⚠
- p.Ile316Met Single submitter ⚠
- p.Ile316Thr Single submitter ⚠
- p.Ile352Leu Single submitter ⚠
- p.Ile66Met Single submitter ⚠
- p.Ile66Phe Single submitter ⚠
- p.Ile69Phe Single submitter ⚠
- p.Ile79Arg Single submitter ⚠
- p.Ile79Leu Single submitter ⚠
- p.Ile79Thr Single submitter ⚠
- p.Leu104_Tyr105insTer Single submitter
- p.Leu157Trp Single submitter ⚠
- p.Leu193Phe Single submitter ⚠
- p.Leu224Val Single submitter ⚠
- p.Leu234fs Single submitter
- p.Leu298Ile Single submitter ⚠
- p.Leu298Pro Single submitter ⚠
- p.Leu34Phe Single submitter ⚠
- p.Leu406Pro Single submitter ⚠
- p.Leu6Arg Single submitter ⚠
- p.Leu86Ile Single submitter ⚠
- p.Leu98Pro Single submitter ⚠
- p.Lys109Thr Single submitter ⚠
- p.Lys111Glu Single submitter ⚠
- p.Lys127Arg Single submitter ⚠
- p.Lys127Thr Single submitter ⚠
- p.Lys216Arg Single submitter ⚠
- p.Lys219Arg Single submitter ⚠
- p.Lys219Asn Single submitter ⚠
- p.Lys299Arg Single submitter ⚠
- p.Lys299Gln Single submitter ⚠
- p.Lys350Arg Single submitter ⚠
- p.Lys395Glu Single submitter ⚠
- p.Lys402Gln Single submitter ⚠
- p.Lys99Arg Single submitter ⚠
- p.Lys99Asn Single submitter ⚠
- p.Met12Lys Single submitter ⚠
- p.Met12Thr Single submitter ⚠
- p.Met12Val Single submitter ⚠
- p.Met160Thr Single submitter ⚠
- p.Met160Val Single submitter ⚠
- p.Met167Ile Single submitter ⚠
- p.Met1fs Single submitter
- p.Met1Thr Single submitter
- p.Met279Ile Single submitter ⚠
- p.Met279Thr Single submitter ⚠
- p.Phe128Ser Single submitter ⚠
- p.Phe27Ile Single submitter ⚠
- p.Phe3Ser Single submitter ⚠
- p.Pro30Arg Single submitter ⚠
- p.Pro48His Single submitter ⚠
- p.Ser102Phe Single submitter ⚠
- p.Ser149Tyr Single submitter ⚠
- p.Ser208Phe Single submitter ⚠
- p.Ser2Cys Single submitter ⚠
- p.Ser2Phe Single submitter ⚠
- p.Ser314Leu Single submitter ⚠
- p.Ser326Arg Single submitter ⚠
- p.Ser326Gly Single submitter ⚠
- p.Ser36Tyr Single submitter ⚠
- p.Ser370Arg Single submitter ⚠
- p.Ser390Tyr Single submitter ⚠
- p.Thr148Ile Single submitter ⚠
- p.Thr181Ser Single submitter ⚠
- p.Thr258Ile Single submitter ⚠
- p.Thr290fs Single submitter
- p.Thr290Ser Single submitter ⚠
- p.Thr338Ile Single submitter ⚠
- p.Trp41Ter Single submitter
- p.Tyr105Cys Single submitter ⚠
- p.Tyr155Cys Single submitter ⚠
- p.Tyr155His Single submitter ⚠
- p.Tyr18His Single submitter ⚠
- p.Tyr87Ter Single submitter
- p.Val103Ser Single submitter
- p.Val119Gly Single submitter ⚠
- p.Val162Leu Single submitter ⚠
- p.Val35Ile Single submitter ⚠
- p.Val35Leu Single submitter ⚠
- p.Val400Leu Single submitter ⚠
- p.Val43Ala Single submitter ⚠
- p.Val56Met Single submitter ⚠
- c.496-9G>A No assertion criteria inherited retinal dystrophy