CORO1A — 358 ClinVar variants
All ClinVar germline CORO1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →
8 Pathogenic · 9 Likely pathogenic · 3 Conflicting · 9 Benign · 5 Benign/Likely benign · 194 Likely benign · 130 Uncertain significance
Full CORO1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 121
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 lean, ClinVar uncertain 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CORO1A p.Arg186Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CORO1A p.Arg293Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CORO1A p.His92Gln
Uncertain significance
Multiple submitters
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Met167Thr
Uncertain significance
Multiple submitters
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Ser194Thr
Uncertain significance
Multiple submitters
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Ser427Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CORO1A p.Thr209Ala
Uncertain significance
Multiple submitters
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Val146Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CORO1A p.Val174Met
Uncertain significance
Multiple submitters
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Ala165Val
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
- CORO1A p.Ala48Asp Uncertain significance Single submitter
-
CORO1A p.Ala74Glu
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Ala74Val
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Ala88Gly
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Ala98Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Arg121Gln
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg12Cys
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg201His
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg222Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Arg222Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Arg241Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Arg293Gln
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg325Cys
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg325His
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg405Met
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg408Gln
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg414His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Arg416Lys
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg69Cys
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg7Cys
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Asn145Lys
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Asn95Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Asp113Glu
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Asp362Val
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Gly320Ser
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Gly369Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CORO1A p.Gly381Ala Uncertain significance Single submitter
-
CORO1A p.Gly386Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Gly386Arg
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.His140Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Ile390Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Lys287Thr
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Met107Ile
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Met117Thr
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Met157Ile
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Met309Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Phe359Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Phe59Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Pro123Thr
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Pro258Leu
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Pro372Arg
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Pro399Ser
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Pro399Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Pro91Leu
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Ser391Phe
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Thr105Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Thr178Met
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Thr424Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Thr76Met
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Trp35Arg
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Val124Ile
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Val155Met
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Val224Met
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Val229Leu
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Val61Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Val96Ile
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
Predictors split 55
The independent predictors disagree with each other — read with care.
-
CORO1A p.Ala385Val
Uncertain significance
Multiple submitters
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Ala418Thr
Uncertain significance
Multiple submitters
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Gly413Arg
Uncertain significance
Multiple submitters
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Leu116Pro
Uncertain significance
Multiple submitters
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Pro119Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CORO1A p.Pro217Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CORO1A p.Pro366His
Benign/Likely benign
Multiple submitters
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Val125Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CORO1A p.Val125Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CORO1A p.Val282Leu
Uncertain significance
Multiple submitters
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Ala248Val
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Ala368Ser
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Ala376Gly
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg121Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Arg196His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Arg199His
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg206Cys
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg216Cys
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg225Cys
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg225Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Arg402Trp
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Arg408Trp
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Asn43Ser
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Asp183Glu
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Asp394Asn
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Glu122Gly
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Glu213Lys
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
- CORO1A p.Glu263Lys Uncertain significance Single submitter
-
CORO1A p.Gly381Arg
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.His254Tyr
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.His341Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Ile156Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Ile87Val
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Leu255Pro
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Leu404Val
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Pro172Ala
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Pro18Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Pro398Ser
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Pro63Arg
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Pro75Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Ser290Cys
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Ser311Gly
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Ser422Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Ser8Phe
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Thr367Ser
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Thr375Arg
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Thr375Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Val125Ala
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Val200Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Val211Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Val227Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Val227Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Val282Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORO1A p.Val28Met
Uncertain significance
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
-
CORO1A p.Val397Ile
Conflicting
Single submitter
severe combined immunodeficiency due to CORO1A deficiency
All CORO1A variants
Pathogenic 8
- p.Arg225fs Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Arg354Ter Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Cys285fs Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Gln360fs Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Glu173Ter Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Met1Ile Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro83fs Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Val134Met No assertion criteria severe combined immunodeficiency due to CORO1A deficiency
Likely pathogenic 9
- c.1007+1G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1065+2T>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.756_756+1del Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Arg12Leu Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Arg317Trp Single submitter
- p.Glu128fs Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Lys233fs Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ser427fs Single submitter severe combined immunodeficiency
- p.Leu64fs No assertion criteria sinoatrial node disorder
Conflicting classifications of pathogenicity 3
- c.451+7C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Thr105fs Single submitter autism spectrum disorder
- p.Val397Ile Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
Benign 9
- c.1065+14G>A Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- c.1065+9C>T Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- c.451+8G>A Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- p.Gly382= Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- p.Pro112= Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- c.1065+13del Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.321+15G>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ser299= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Thr367= Single submitter severe combined immunodeficiency due to CORO1A deficiency
Benign/Likely benign 5
- c.861+19G>A Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- p.Gln246= Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- p.Ile281= Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- p.Pro366His Multiple submitters severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Ser268= Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
Likely benign 194
- c.1007+13C>T Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- c.862-13C>G Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- p.Ile334= Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- p.Leu116= Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- p.Phe228= Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- p.Ser243= Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- p.Thr279= Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- p.Val124= Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
- c.1007+14G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1007+15dup Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1007+8del Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1007+9C>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1008-10C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1008-4A>G Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1008-4A>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1008-8T>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1065+13C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1065+15C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1065+7C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1065+8T>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1066-10T>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1066-10T>G Single submitter
- c.1066-13G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1066-7C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1066-8G>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1281+13G>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1281+8G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.198+13G>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.198+17C>G Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.198+17C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.198+19G>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.198+20G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.198+20G>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.198+7C>T Single submitter
- c.198+8C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.199-10G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.199-12C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.199-13G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.199-15C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.199-16C>G Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.199-18G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.199-19G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.199-20A>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.321+14G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.321+7G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.322-14C>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.322-4G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.322-5T>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.322-9C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.451+11A>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.451+11A>G Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.451+16G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.451+7C>G Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.452-12G>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.452-14_452-13del Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.452-16T>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.452-18A>G Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.452-6G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.452-7C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.636+12T>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.636+14T>G Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.636+15_636+17del Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.636+18C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.636+20G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.636+7C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.636+9C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.637-14C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.756+11G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.756+12G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.757-10G>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.757-15C>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.757-16T>G Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.757-17_757-16insGA Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.757-18T>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.861+10T>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.861+10T>G Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.861+11C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.861+12G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.861+14G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.861+16G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.861+18G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.861+24_861+29del Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.861+8C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.861+9G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.862-14C>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.862-15A>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.862-6C>G Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.862-6C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.862-7C>T Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ala165= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ala19= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ala21= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ala248= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ala301= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ala417= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ala74= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Arg186= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Arg245= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Arg29= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Arg344= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Arg383= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Arg402= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Arg408= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Asn145= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Asn154= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Asn280= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Asn43= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Asn93= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Asn95= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Asp160= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Asp265= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Asp411= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Asp71= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Cys332= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Gln360= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Glu173= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Glu256= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Glu346= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Glu378= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Glu403= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Glu456= Single submitter
- p.Gly16= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Gly162= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Gly189= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Gly232= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Gly318= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Gly413= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Gly423= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Gly79= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.His13= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.His254= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.His305= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.His341= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.His92= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ile111= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ile136= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ile203= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ile87= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Leu118= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Leu249= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Leu255= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Leu261= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Leu264= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Leu340= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Leu358= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Leu363= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Leu374= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Leu380= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Leu404= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Leu49= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Leu62= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Leu85= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Lys400= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Phe295= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Phe303= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro123= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro18= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro205= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro223= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro258= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro323= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro366= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro370= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro387= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro63= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro75= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro83= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro91= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ser101= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ser149= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ser185= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ser194= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ser230= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ser312= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ser356= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ser391= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ser54= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Thr141= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Thr142= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Thr178= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Thr237= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Thr412= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Thr412Ala Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Thr76= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Tyr294= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Tyr338= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Tyr396= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Val14= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Val182= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Val210= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Val211= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Val224= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Val352= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Val406= Single submitter severe combined immunodeficiency due to CORO1A deficiency
Uncertain significance 130
- p.Ala385Val Multiple submitters severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Ala418Thr Multiple submitters severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg186Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg293Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly413Arg Multiple submitters severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.His92Gln Multiple submitters severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Leu116Pro Multiple submitters severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Met167Thr Multiple submitters severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Pro119Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro217Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser194Thr Multiple submitters severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Ser427Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr209Ala Multiple submitters severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Val125Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val125Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val146Met Multiple submitters Inborn genetic diseases ⚠
- p.Val174Met Multiple submitters severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Val282Leu Multiple submitters severe combined immunodeficiency due to CORO1A deficiency ⚠
- c.1066-3_1066-2del Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.1066-8G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.195_198+13dup Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.198+3G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.198+6C>G Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.321+5G>A Single submitter severe combined immunodeficiency due to CORO1A deficiency
- c.636+3G>C Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ala165Val Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Ala248Val Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Ala368Ser Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Ala376Gly Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Ala417fs Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ala48Asp Single submitter ⚠
- p.Ala74Glu Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Ala74Val Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Ala88Gly Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Ala98Thr Single submitter Inborn genetic diseases ⚠
- p.Arg121Gln Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg121Trp Single submitter Inborn genetic diseases ⚠
- p.Arg12Cys Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg196His Single submitter Inborn genetic diseases ⚠
- p.Arg199His Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg201His Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg206Cys Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg216Cys Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg222Gln Single submitter Inborn genetic diseases ⚠
- p.Arg222Trp Single submitter Inborn genetic diseases ⚠
- p.Arg225Cys Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg225Pro Single submitter Inborn genetic diseases ⚠
- p.Arg241Cys Single submitter Inborn genetic diseases ⚠
- p.Arg293Gln Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg325Cys Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg325His Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg402Trp Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg405Met Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg408Gln Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg408Trp Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg414His Single submitter Inborn genetic diseases ⚠
- p.Arg416Lys Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg69Cys Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Arg7Cys Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Asn145Lys Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Asn154del Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Asn43Ser Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Asn95Ser Single submitter Inborn genetic diseases ⚠
- p.Asp113Glu Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Asp183Glu Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Asp362Val Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Asp394Asn Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Glu122Gly Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Glu213Lys Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Glu263Lys Single submitter ⚠
- p.Gly320Ser Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Gly369Arg Single submitter Inborn genetic diseases ⚠
- p.Gly381Ala Single submitter ⚠
- p.Gly381Arg Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Gly386Ala Single submitter Inborn genetic diseases ⚠
- p.Gly386Arg Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.His140Asp Single submitter Inborn genetic diseases ⚠
- p.His254Tyr Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.His341Gln Single submitter Inborn genetic diseases ⚠
- p.Ile156Leu Single submitter Inborn genetic diseases ⚠
- p.Ile390Leu Single submitter Inborn genetic diseases ⚠
- p.Ile87Val Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Leu255Pro Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Leu404Val Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Lys287Thr Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Met107Ile Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Met117Thr Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Met157Ile Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Met309Leu Single submitter Inborn genetic diseases ⚠
- p.Phe359Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe59Ser Single submitter Inborn genetic diseases ⚠
- p.Pro112Leu Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Pro123Thr Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Pro172Ala Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Pro18Gln Single submitter Inborn genetic diseases ⚠
- p.Pro258Leu Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Pro372Arg Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Pro398Ser Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Pro399Ser Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Pro399Thr Single submitter Inborn genetic diseases ⚠
- p.Pro63Arg Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Pro75Ser Single submitter Inborn genetic diseases ⚠
- p.Pro91Leu Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Ser290Cys Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Ser311Gly Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Ser391Phe Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Ser422Asn Single submitter Inborn genetic diseases ⚠
- p.Ser427= Single submitter severe combined immunodeficiency due to CORO1A deficiency
- p.Ser8Phe Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Thr105Ile Single submitter Inborn genetic diseases ⚠
- p.Thr178Met Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Thr367Ser Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Thr375Arg Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Thr375Met Single submitter Inborn genetic diseases ⚠
- p.Thr424Ser Single submitter Inborn genetic diseases ⚠
- p.Thr76Met Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Trp35Arg Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Val124Ile Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Val125Ala Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Val155Met Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Val200Met Single submitter Inborn genetic diseases ⚠
- p.Val211Ile Single submitter Inborn genetic diseases ⚠
- p.Val224Met Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Val227Leu Single submitter Inborn genetic diseases ⚠
- p.Val227Met Single submitter Inborn genetic diseases ⚠
- p.Val229Leu Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Val282Ile Single submitter Inborn genetic diseases ⚠
- p.Val28Met Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠
- p.Val61Ala Single submitter Inborn genetic diseases ⚠
- p.Val96Ile Single submitter severe combined immunodeficiency due to CORO1A deficiency ⚠