TCF3 — 1195 ClinVar variants
All ClinVar germline TCF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 489 flagged for review →
20 Pathogenic · 14 Likely pathogenic · 45 Conflicting · 25 Benign · 35 Benign/Likely benign · 506 Likely benign · 550 Uncertain significance
Full TCF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 489
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 31
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- TCF3 p.Ala199Thr Conflicting Single submitter
-
TCF3 p.Ala203Thr
Conflicting
Single submitter
agammaglobulinemia 8b, autosomal recessive
-
TCF3 p.Ala212Val
Conflicting
Single submitter
agammaglobulinemia 8b, autosomal recessive
- TCF3 p.Ala453Thr Conflicting Single submitter
-
TCF3 p.Ala492Val
Conflicting
Single submitter
myeloproliferative neoplasm, unclassifiable
-
TCF3 p.Ala510Val
Conflicting
Single submitter
Inborn genetic diseases
-
TCF3 p.Ala647Gly
Conflicting
Single submitter
Inborn genetic diseases
-
TCF3 p.Ala651Thr
Conflicting
Single submitter
Inborn genetic diseases
-
TCF3 p.Ala8Val
Conflicting
Single submitter
agammaglobulinemia 8b, autosomal recessive
-
TCF3 p.Arg405His
Conflicting
Single submitter
agammaglobulinemia 8, autosomal dominant
-
TCF3 p.Arg477Gln
Conflicting
Single submitter
agammaglobulinemia 8b, autosomal recessive
-
TCF3 p.Arg527Gln
Conflicting
Single submitter
Inborn genetic diseases
-
TCF3 p.Arg546Trp
Conflicting
Single submitter
agammaglobulinemia 8b, autosomal recessive
-
TCF3 p.Asp474Glu
Conflicting
Single submitter
myeloproliferative neoplasm, unclassifiable
-
TCF3 p.Gly103Ser
Conflicting
Single submitter
agammaglobulinemia 8, autosomal dominant
-
TCF3 p.Gly164Ser
Conflicting
Single submitter
Inborn genetic diseases
- TCF3 p.Gly194Ser Conflicting Single submitter
-
TCF3 p.Gly254Ser
Conflicting
Single submitter
agammaglobulinemia 8b, autosomal recessive
- TCF3 p.Gly302Ser Conflicting Single submitter
- TCF3 p.Gly413Ser Conflicting Single submitter
- TCF3 p.Gly437Arg Conflicting Single submitter
-
TCF3 p.Gly62Ser
Conflicting
Single submitter
Inborn genetic diseases
- TCF3 p.His269Gln Conflicting Single submitter
-
TCF3 p.Lys519Glu
Conflicting
Single submitter
agammaglobulinemia 8b, autosomal recessive
-
TCF3 p.Pro151Leu
Conflicting
Single submitter
Inborn genetic diseases
- TCF3 p.Pro29Arg Conflicting Single submitter
-
TCF3 p.Pro650Thr
Conflicting
Single submitter
Inborn genetic diseases
-
TCF3 p.Ser514Leu
Conflicting
Single submitter
agammaglobulinemia 8b, autosomal recessive
- TCF3 p.Thr168Met Conflicting Single submitter
-
TCF3 p.Thr324Ile
Conflicting
Single submitter
Inborn genetic diseases
-
TCF3 p.Thr508Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 406
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 406
-
TCF3 p.Ala109Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Ala115Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Ala225Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Ala281Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Ala290Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Ala296Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Ala296Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Ala400Gly Uncertain significance Multiple submitters
-
TCF3 p.Ala43Val
Uncertain significance
Multiple submitters
agammaglobulinemia 8, autosomal dominant
-
TCF3 p.Ala453Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Ala556Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Arg159Gln
Uncertain significance
Multiple submitters
agammaglobulinemia 8, autosomal dominant
- TCF3 p.Arg273His Uncertain significance Multiple submitters
-
TCF3 p.Arg36Gln
Uncertain significance
Multiple submitters
agammaglobulinemia 8, autosomal dominant
-
TCF3 p.Arg438Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Arg438Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Arg487Gln Uncertain significance Multiple submitters
-
TCF3 p.Arg487Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Arg499Gln
Uncertain significance
Multiple submitters
agammaglobulinemia 8b, autosomal recessive
-
TCF3 p.Arg525Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Arg551Gln Uncertain significance Multiple submitters
-
TCF3 p.Arg557Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Arg563Cys Uncertain significance Multiple submitters
- TCF3 p.Arg574Cys Uncertain significance Multiple submitters
- TCF3 p.Arg620Trp Uncertain significance Multiple submitters
-
TCF3 p.Arg73Trp
Uncertain significance
Multiple submitters
agammaglobulinemia 8b, autosomal recessive
-
TCF3 p.Asn649His
Uncertain significance
Multiple submitters
TCF3-related disorder
-
TCF3 p.Asp167Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Gln233Glu Uncertain significance Multiple submitters
-
TCF3 p.Gln368Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Glu449Lys Uncertain significance Multiple submitters
-
TCF3 p.Glu496Lys
Uncertain significance
Multiple submitters
TCF3-related disorder
-
TCF3 p.Glu505Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Glu77Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Gly112Arg
Uncertain significance
Multiple submitters
TCF3-related disorder
-
TCF3 p.Gly119Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Gly232Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Gly243Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Gly254Cys
Uncertain significance
Multiple submitters
myeloproliferative neoplasm, unclassifiable
-
TCF3 p.Gly275Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Gly285Ser
Uncertain significance
Multiple submitters
agammaglobulinemia 8, autosomal dominant
-
TCF3 p.Gly298Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Gly303Ser Uncertain significance Multiple submitters
- TCF3 p.Gly33Arg Uncertain significance Multiple submitters
- TCF3 p.Gly33Val Uncertain significance Multiple submitters
-
TCF3 p.Gly376Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Gly376Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Gly385Val Uncertain significance Multiple submitters
-
TCF3 p.Gly423Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Gly444Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Gly451Ser
Uncertain significance
Multiple submitters
TCF3-related disorder
- TCF3 p.Gly484Val Uncertain significance Multiple submitters
-
TCF3 p.Gly628Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Gly99Arg Uncertain significance Multiple submitters
-
TCF3 p.His344Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Leu130Gln Uncertain significance Multiple submitters
-
TCF3 p.Lys502Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Lys518Glu Uncertain significance Multiple submitters
-
TCF3 p.Met433Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Pro135Arg Uncertain significance Multiple submitters
-
TCF3 p.Pro137Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Pro177Leu
Uncertain significance
Multiple submitters
agammaglobulinemia 8, autosomal dominant
-
TCF3 p.Pro201Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Pro211His
Uncertain significance
Multiple submitters
myeloproliferative neoplasm, unclassifiable
-
TCF3 p.Pro250Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Pro255Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Pro27Gln Uncertain significance Multiple submitters
-
TCF3 p.Pro353Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Pro37Ser Uncertain significance Multiple submitters
-
TCF3 p.Pro448Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Pro479Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Pro524Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Pro530Arg
Uncertain significance
Multiple submitters
agammaglobulinemia 8, autosomal dominant
- TCF3 p.Pro633Leu Uncertain significance Multiple submitters
-
TCF3 p.Ser141Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Ser259Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Ser294Phe Uncertain significance Multiple submitters
-
TCF3 p.Ser350Leu
Uncertain significance
Multiple submitters
agammaglobulinemia 8, autosomal dominant
-
TCF3 p.Ser483Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Ser495Asn Uncertain significance Multiple submitters
-
TCF3 p.Ser509Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Thr146Ile Uncertain significance Multiple submitters
-
TCF3 p.Thr300Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Thr366Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Thr417Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Tyr108Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Tyr382Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Val256Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Val304Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Val403Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Ala107Val
Uncertain significance
Single submitter
agammaglobulinemia 8b, autosomal recessive
- TCF3 p.Ala131Thr Uncertain significance Single submitter
- TCF3 p.Ala161Ser Uncertain significance Single submitter
- TCF3 p.Ala161Thr Uncertain significance Single submitter
- TCF3 p.Ala161Val Uncertain significance Single submitter
- TCF3 p.Ala199Ser Uncertain significance Single submitter
- TCF3 p.Ala203Gly Uncertain significance Single submitter
- TCF3 p.Ala203Pro Uncertain significance Single submitter
- TCF3 p.Ala203Val Uncertain significance Single submitter
- TCF3 p.Ala212Pro Uncertain significance Single submitter
- TCF3 p.Ala212Thr Uncertain significance Single submitter
- TCF3 p.Ala234Val Uncertain significance Single submitter
- TCF3 p.Ala290Ser Uncertain significance Single submitter
- TCF3 p.Ala314Ser Uncertain significance Single submitter
-
TCF3 p.Ala374Asp
Uncertain significance
Single submitter
agammaglobulinemia 8, autosomal dominant
- TCF3 p.Ala374Ser Uncertain significance Single submitter
- TCF3 p.Ala374Val Uncertain significance Single submitter
-
TCF3 p.Ala377Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF3 p.Ala377Thr Uncertain significance Single submitter
- TCF3 p.Ala38Pro Uncertain significance Single submitter
- TCF3 p.Ala38Val Uncertain significance Single submitter
-
TCF3 p.Ala41Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF3 p.Ala41Val Uncertain significance Single submitter
- TCF3 p.Ala440Thr Uncertain significance Single submitter
- TCF3 p.Ala453Pro Uncertain significance Single submitter
- TCF3 p.Ala463Ser Uncertain significance Single submitter
- TCF3 p.Ala463Thr Uncertain significance Single submitter
- TCF3 p.Ala463Val Uncertain significance Single submitter
- TCF3 p.Ala488Val Uncertain significance Single submitter
- TCF3 p.Ala494Thr Uncertain significance Single submitter
- TCF3 p.Ala523Gly Uncertain significance Single submitter
-
TCF3 p.Ala523Thr
Uncertain significance
Single submitter
agammaglobulinemia 8, autosomal dominant
- TCF3 p.Ala526Ser Uncertain significance Single submitter
- TCF3 p.Ala544Val Uncertain significance Single submitter
- TCF3 p.Ala639Val Uncertain significance Single submitter
- TCF3 p.Arg105Gln Uncertain significance Single submitter
- TCF3 p.Arg160Lys Uncertain significance Single submitter
- TCF3 p.Arg174Trp Uncertain significance Single submitter
- TCF3 p.Arg195Lys Uncertain significance Single submitter
- TCF3 p.Arg36Trp Uncertain significance Single submitter
- TCF3 p.Arg371Gln Uncertain significance Single submitter
- TCF3 p.Arg371Gly Uncertain significance Single submitter
- TCF3 p.Arg477Trp Uncertain significance Single submitter
- TCF3 p.Arg487Gly Uncertain significance Single submitter
- TCF3 p.Arg525Gly Uncertain significance Single submitter
- TCF3 p.Arg53Gln Uncertain significance Single submitter
- TCF3 p.Arg546Pro Uncertain significance Single submitter
- TCF3 p.Arg550Cys Uncertain significance Single submitter
- TCF3 p.Arg550His Uncertain significance Single submitter
- TCF3 p.Arg551Leu Uncertain significance Single submitter
- TCF3 p.Arg563His Uncertain significance Single submitter
- TCF3 p.Arg574Leu Uncertain significance Single submitter
- TCF3 p.Arg607Gln Uncertain significance Single submitter
- TCF3 p.Arg609Trp Uncertain significance Single submitter
- TCF3 p.Arg620Gln Uncertain significance Single submitter
- TCF3 p.Arg620Leu Uncertain significance Single submitter
- TCF3 p.Arg621Gln Uncertain significance Single submitter
- TCF3 p.Arg621Leu Uncertain significance Single submitter
- TCF3 p.Arg6Gly Uncertain significance Single submitter
- TCF3 p.Asn133Asp Uncertain significance Single submitter
Predictors split 52
The independent predictors disagree with each other — read with care.
- TCF3 p.Ala408Thr Uncertain significance Multiple submitters
- TCF3 p.Arg273Cys Uncertain significance Multiple submitters
- TCF3 p.Arg527Trp Uncertain significance Multiple submitters
- TCF3 p.Gly333Ser Uncertain significance Multiple submitters
-
TCF3 p.Leu19Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Phe293Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Phe69Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Pro27Leu Uncertain significance Multiple submitters
-
TCF3 p.Ser645Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF3 p.Thr411Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF3 p.Ala544Ser Uncertain significance Single submitter
- TCF3 p.Arg174Gln Conflicting Single submitter
- TCF3 p.Arg499Trp Uncertain significance Single submitter
- TCF3 p.Arg525Trp Uncertain significance Single submitter
- TCF3 p.Arg574His Uncertain significance Single submitter
- TCF3 p.Asp13Asn Uncertain significance Single submitter
- TCF3 p.Asp13Glu Uncertain significance Single submitter
- TCF3 p.Asp536Asn Uncertain significance Single submitter
-
TCF3 p.Asp536Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF3 p.Gln594His Uncertain significance Single submitter
- TCF3 p.Glu394Gly Uncertain significance Single submitter
- TCF3 p.Glu534Lys Uncertain significance Single submitter
- TCF3 p.Gly241Cys Uncertain significance Single submitter
- TCF3 p.Gly275Cys Uncertain significance Single submitter
- TCF3 p.Gly329Arg Uncertain significance Single submitter
- TCF3 p.Gly362Arg Uncertain significance Single submitter
- TCF3 p.Gly362Cys Uncertain significance Single submitter
- TCF3 p.His641Tyr Uncertain significance Single submitter
- TCF3 p.Leu180His Uncertain significance Single submitter
- TCF3 p.Leu180Phe Uncertain significance Single submitter
- TCF3 p.Leu538Pro Uncertain significance Single submitter
- TCF3 p.Leu590Phe Uncertain significance Single submitter
- TCF3 p.Lys619Asn Uncertain significance Single submitter
- TCF3 p.Met25Ile Uncertain significance Single submitter
- TCF3 p.Phe22Leu Uncertain significance Single submitter
- TCF3 p.Phe236Leu Uncertain significance Single submitter
- TCF3 p.Phe349Leu Uncertain significance Single submitter
-
TCF3 p.Pro181Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF3 p.Pro181Leu Uncertain significance Single submitter
- TCF3 p.Pro360Arg Uncertain significance Single submitter
-
TCF3 p.Pro360His
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF3 p.Pro380Leu Uncertain significance Single submitter
- TCF3 p.Ser110Cys Uncertain significance Single submitter
- TCF3 p.Ser182Phe Uncertain significance Single submitter
-
TCF3 p.Ser229Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF3 p.Ser327Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF3 p.Ser346Arg Uncertain significance Single submitter
- TCF3 p.Ser352Arg Uncertain significance Single submitter
- TCF3 p.Ser582Gly Uncertain significance Single submitter
- TCF3 p.Trp59Arg Uncertain significance Single submitter
- TCF3 p.Val184Leu Uncertain significance Single submitter
-
TCF3 p.Ile591Val
Uncertain significance
No assertion criteria
TCF3-related disorder
All TCF3 variants
Pathogenic 20
- p.Arg321Ter Multiple submitters
- p.Glu555Lys Multiple submitters agammaglobulinemia 8, autosomal dominant
- p.Arg487Ter Single submitter
- p.Arg525fs Single submitter
- p.Gln233fs Single submitter
- p.Gln361Ter Single submitter
- p.Gln44Ter Single submitter
- p.Glu104Ter Single submitter
- p.Gly445fs Single submitter
- p.Gly454fs Single submitter
- p.Gly46Ter Single submitter
- p.Gly99Ter Single submitter
- p.Ile393fs Single submitter
- p.Ser202fs Single submitter agammaglobulinemia 8, autosomal dominant
- p.Ser224fs Single submitter
- p.Ser253fs Single submitter
- p.Ser391fs Single submitter
- p.Ser446fs Single submitter agammaglobulinemia 8, autosomal dominant
- p.Ser638Ter Single submitter agammaglobulinemia 8, autosomal dominant
- p.Gln270Ter No assertion criteria agammaglobulinemia 8b, autosomal recessive
Likely pathogenic 14
- c.1094-2A>T Single submitter
- c.1167+1G>A Single submitter
- c.1168-2A>G Single submitter
- c.145+1G>C Single submitter
- c.145+1G>T Single submitter
- c.219+1G>C Single submitter
- c.367-1G>T Single submitter
- c.550-1G>C Single submitter
- c.653-2A>G Single submitter
- c.956-2A>G Single submitter
- p.Asn551fs Single submitter agammaglobulinemia 8b, autosomal recessive
- p.Glu541fs Single submitter agammaglobulinemia 8b, autosomal recessive
- p.Ser509fs Single submitter TCF3-related disorder
- p.Ala565Thr No assertion criteria plasma cell myeloma
Conflicting classifications of pathogenicity 45
- c.549+7C>T Single submitter
- c.550-5C>T Single submitter
- c.550-8G>A Single submitter
- c.652+4C>T Single submitter
- c.822+10_822+16del Single submitter
- p.Ala199Thr Single submitter ⚠
- p.Ala203Thr Single submitter agammaglobulinemia 8b, autosomal recessive ⚠
- p.Ala212Val Single submitter agammaglobulinemia 8b, autosomal recessive ⚠
- p.Ala453Thr Single submitter ⚠
- p.Ala492Val Single submitter myeloproliferative neoplasm, unclassifiable ⚠
- p.Ala510Val Single submitter Inborn genetic diseases ⚠
- p.Ala647Gly Single submitter Inborn genetic diseases ⚠
- p.Ala651Thr Single submitter Inborn genetic diseases ⚠
- p.Ala8Val Single submitter agammaglobulinemia 8b, autosomal recessive ⚠
- p.Arg174Gln Single submitter ⚠
- p.Arg405His Single submitter agammaglobulinemia 8, autosomal dominant ⚠
- p.Arg477Gln Single submitter agammaglobulinemia 8b, autosomal recessive ⚠
- p.Arg527Gln Single submitter Inborn genetic diseases ⚠
- p.Arg546Trp Single submitter agammaglobulinemia 8b, autosomal recessive ⚠
- p.Arg548His Single submitter
- p.Arg554Trp Single submitter
- p.Arg567Gln Single submitter
- p.Asp474Glu Single submitter myeloproliferative neoplasm, unclassifiable ⚠
- p.Gly103Ser Single submitter agammaglobulinemia 8, autosomal dominant ⚠
- p.Gly116= Single submitter
- p.Gly142= Single submitter
- p.Gly164Ser Single submitter Inborn genetic diseases ⚠
- p.Gly194Ser Single submitter ⚠
- p.Gly254Ser Single submitter agammaglobulinemia 8b, autosomal recessive ⚠
- p.Gly302Ser Single submitter ⚠
- p.Gly413Ser Single submitter ⚠
- p.Gly437Arg Single submitter ⚠
- p.Gly62Ser Single submitter Inborn genetic diseases ⚠
- p.His269Gln Single submitter ⚠
- p.Leu318= Single submitter
- p.Lys519Glu Single submitter agammaglobulinemia 8b, autosomal recessive ⚠
- p.Lys578Glu Single submitter agammaglobulinemia 8, autosomal dominant
- p.Phe293Ser Single submitter
- p.Pro151Leu Single submitter Inborn genetic diseases ⚠
- p.Pro29Arg Single submitter ⚠
- p.Pro650Thr Single submitter Inborn genetic diseases ⚠
- p.Ser514Leu Single submitter agammaglobulinemia 8b, autosomal recessive ⚠
- p.Thr168Met Single submitter ⚠
- p.Thr324Ile Single submitter Inborn genetic diseases ⚠
- p.Thr508Met Single submitter Inborn genetic diseases ⚠
Benign 25
- c.1167+12C>A Multiple submitters
- c.1326+7G>T Multiple submitters
- c.145+133G>A Multiple submitters agammaglobulinemia 8, autosomal dominant
- c.1586+21A>C Multiple submitters
- c.1823-8C>T Multiple submitters
- c.499+17C>T Multiple submitters
- c.500-8T>C Multiple submitters
- c.652+16G>T Multiple submitters
- c.72+42T>C Multiple submitters agammaglobulinemia 8, autosomal dominant
- c.-11G>C Multiple submitters
- p.Gly436= Multiple submitters
- p.Pro255= Multiple submitters
- p.Ser253= Multiple submitters
- p.Ser354= Multiple submitters
- p.Ser434= Multiple submitters
- c.1168-10del Single submitter
- c.1168-9A>C Single submitter
- c.1451-32G>A Single submitter
- c.298+17G>T Single submitter
- c.367-104A>G Single submitter
- c.500-16del Single submitter
- c.550-20dup Single submitter
- c.823-3dup Single submitter
- p.Ala212= Single submitter
- p.His396= Single submitter
Benign/Likely benign 35
- c.1093+17G>A Multiple submitters
- c.1093+17G>C Multiple submitters
- c.1093+18G>A Multiple submitters
- c.1167+15C>T Multiple submitters
- c.1167+15del Multiple submitters
- c.1326+7G>A Multiple submitters
- c.1451-11G>A Multiple submitters
- c.1586+17C>T Multiple submitters
- c.1587-17C>T Multiple submitters
- c.1823-10C>T Multiple submitters
- c.366+11C>T Multiple submitters
- c.366+17G>A Multiple submitters
- c.822+14C>T Multiple submitters
- c.823-13C>T Multiple submitters agammaglobulinemia 8b, autosomal recessive
- p.Ala424Val Multiple submitters
- p.Arg105= Multiple submitters agammaglobulinemia 8b, autosomal recessive
- p.Asp163= Multiple submitters
- p.Asp480Asn Multiple submitters
- p.Asp504= Multiple submitters
- p.Glu571= Multiple submitters agammaglobulinemia 8b, autosomal recessive
- p.Gly119Ser Multiple submitters
- p.Gly385Asp Multiple submitters
- p.Gly431= Multiple submitters
- p.Gly431Ser Multiple submitters myeloproliferative neoplasm, unclassifiable
- p.His513Gln Multiple submitters
- p.Leu120Pro Multiple submitters
- p.Leu475= Multiple submitters
- p.Lys101Arg Multiple submitters
- p.Lys175= Multiple submitters
- p.Pro250= Multiple submitters
- p.Pro309= Multiple submitters
- p.Thr198Ala Multiple submitters
- p.Thr300= Multiple submitters
- p.Thr508= Multiple submitters
- p.Thr531Met Multiple submitters
Likely benign 506
Showing the top 300 by review status; the full set is in the sitemap.
- c.1014+20G>A Multiple submitters
- c.1014+8G>A Multiple submitters
- c.1093+15_1093+48del Multiple submitters
- c.1167+10T>G Multiple submitters
- c.1167+16G>A Multiple submitters
- c.1326+19T>G Multiple submitters
- c.1327-15dup Multiple submitters
- c.1327-8G>A Multiple submitters
- c.145+10C>T Multiple submitters
- c.145+13C>T Multiple submitters
- c.1587-13G>A Multiple submitters
- c.1587-14C>T Multiple submitters
- c.1823-13C>T Multiple submitters
- c.1823-346G>C Multiple submitters
- c.1823-347C>T Multiple submitters
- c.1823-598G>A Multiple submitters
- c.366+12G>A Multiple submitters
- c.367-13C>T Multiple submitters
- c.499+7G>A Multiple submitters
- c.550-4G>A Multiple submitters
- c.72+16C>T Multiple submitters
- c.72+17G>C Multiple submitters
- c.73-10C>G Multiple submitters
- c.73-10C>T Multiple submitters
- c.822+20G>A Multiple submitters
- p.Ala161= Multiple submitters
- p.Ala225= Multiple submitters
- p.Ala234= Multiple submitters
- p.Ala296= Multiple submitters
- p.Ala331= Multiple submitters
- p.Ala412= Multiple submitters
- p.Ala424= Multiple submitters
- p.Ala463= Multiple submitters
- p.Ala492= Multiple submitters
- p.Ala510= Multiple submitters
- p.Ala582= Multiple submitters
- p.Ala8= Multiple submitters
- p.Ala8Ser Multiple submitters
- p.Arg487= Multiple submitters
- p.Arg558= Multiple submitters
- p.Asn552= Multiple submitters
- p.Asp18= Multiple submitters
- p.Asp450= Multiple submitters
- p.Asp533= Multiple submitters
- p.Asp535= Multiple submitters
- p.Gln577= Multiple submitters
- p.Gln64= Multiple submitters
- p.Gly302= Multiple submitters
- p.Gly362Asp Multiple submitters
- p.Gly46Arg Multiple submitters agammaglobulinemia 8, autosomal dominant
- p.Gly652= Multiple submitters
- p.His407= Multiple submitters
- p.His439= Multiple submitters
- p.Ile401= Multiple submitters
- p.Leu332= Multiple submitters
- p.Leu442= Multiple submitters
- p.Leu521= Multiple submitters
- p.Leu589= Multiple submitters
- p.Leu599= Multiple submitters
- p.Leu602= Multiple submitters agammaglobulinemia 8, autosomal dominant
- p.Lys522Gln Multiple submitters agammaglobulinemia 8b, autosomal recessive
- p.Phe45= Multiple submitters
- p.Pro135= Multiple submitters
- p.Pro186= Multiple submitters
- p.Pro201= Multiple submitters
- p.Pro231= Multiple submitters
- p.Pro246Leu Multiple submitters
- p.Pro342= Multiple submitters
- p.Pro360= Multiple submitters
- p.Pro650= Multiple submitters
- p.Ser102= Multiple submitters
- p.Ser154= Multiple submitters
- p.Ser202= Multiple submitters
- p.Ser295del Multiple submitters
- p.Ser328= Multiple submitters
- p.Ser350= Multiple submitters
- p.Ser495= Multiple submitters
- p.Ser529= Multiple submitters
- p.Ser61= Multiple submitters
- p.Ser84= Multiple submitters
- p.Thr198= Multiple submitters
- p.Thr264= Multiple submitters
- p.Thr300Ala Multiple submitters
- p.Thr308= Multiple submitters
- p.Thr366= Multiple submitters
- p.Thr417= Multiple submitters
- p.Thr471= Multiple submitters
- p.Thr491= Multiple submitters
- p.Thr92= Multiple submitters
- c.1014+15A>G Single submitter
- c.1014+20G>C Single submitter
- c.1015-17C>G Single submitter
- c.1015-20T>C Single submitter
- c.1015-4G>A Single submitter
- c.1015-5C>G Single submitter
- c.1015-5C>T Single submitter
- c.1015-6T>A Single submitter
- c.1093+10G>A Single submitter
- c.1093+16G>T Single submitter
- c.1093+17G>T Single submitter
- c.1093+18G>T Single submitter
- c.1093+20G>A Single submitter
- c.1093+20G>T Single submitter
- c.1094-10T>C Single submitter
- c.1094-11C>T Single submitter
- c.1094-13C>T Single submitter
- c.1094-16C>G Single submitter
- c.1094-16C>T Single submitter
- c.1094-18G>A Single submitter
- c.1094-19C>T Single submitter
- c.1094-5T>C Single submitter
- c.1094-6_1094-3del Single submitter
- c.1094-7C>A Single submitter
- c.1094-8C>A Single submitter
- c.1167+10_1167+11insC Single submitter
- c.1167+10_1167+14dup Single submitter
- c.1167+10T>C Single submitter
- c.1167+11G>A Single submitter
- c.1167+11G>C Single submitter
- c.1167+11G>T Single submitter
- c.1167+11GCCCC[3] Single submitter
- c.1167+16G>C Single submitter
- c.1167+16G>T Single submitter
- c.1167+17_1167+18insCGCCACCCCA Single submitter
- c.1167+20C>T Single submitter
- c.1167+7G>A Single submitter
- c.1168-13C>T Single submitter
- c.1168-16T>C Single submitter
- c.1168-17A>G Single submitter
- c.1168-4G>A Single submitter
- c.1168-5T>C Single submitter
- c.1168-7C>G Single submitter
- c.1168-7C>T Single submitter
- c.1326+13C>A Single submitter
- c.1326+13C>T Single submitter
- c.1326+14G>A Single submitter
- c.1326+16G>A Single submitter
- c.1326+19T>C Single submitter
- c.1327-16C>T Single submitter
- c.1327-18G>A Single submitter
- c.1327-19C>T Single submitter
- c.1327-4G>A Single submitter
- c.1327-6C>G Single submitter
- c.1327-8G>T Single submitter
- c.1327-9C>T Single submitter
- c.145+11G>A Single submitter
- c.145+11G>T Single submitter
- c.145+12C>A Single submitter
- c.145+14T>G Single submitter
- c.145+20C>T Single submitter
- c.1450+10_1450+16dup Single submitter
- c.1450+13G>A Single submitter
- c.1450+14C>G Single submitter
- c.1450+17G>A Single submitter
- c.1450+8C>G Single submitter
- c.1450+8C>T Single submitter
- c.1451-14T>C Single submitter
- c.1451-15_1451-12dup Single submitter
- c.1451-15C>T Single submitter
- c.146-10C>T Single submitter
- c.146-11C>T Single submitter
- c.146-15C>T Single submitter
- c.146-20T>C Single submitter
- c.146-6C>T Single submitter
- c.146-8G>A Single submitter
- c.146-8G>C Single submitter
- c.1586+12C>T Single submitter
- c.1586+16T>G Single submitter
- c.1586+18G>A Single submitter
- c.1586+46C>T Single submitter
- c.1586+47G>A Single submitter
- c.1586+49A>G Single submitter
- c.1586+53G>A Single submitter
- c.1586+74C>T Single submitter
- c.1586+7A>G Single submitter
- c.1586+8C>T Single submitter
- c.1587-10C>T Single submitter
- c.1587-16G>A Single submitter
- c.1587-19C>T Single submitter
- c.1587-24_1587-14del Single submitter
- c.1587-4A>G Single submitter
- c.1587-57G>A Single submitter
- c.1587-6C>T Single submitter
- c.1822+12C>T Single submitter
- c.1822+13G>A Single submitter
- c.1822+14C>T Single submitter
- c.1822+17G>T Single submitter
- c.1822+9_1822+11del Single submitter
- c.1823-11C>A Single submitter
- c.1823-11C>T Single submitter
- c.1823-12C>A Single submitter
- c.1823-14C>T Single submitter
- c.1823-15C>T Single submitter
- c.1823-341G>C Single submitter
- c.1823-342A>G Single submitter
- c.1823-344C>A Single submitter
- c.1823-346G>A Single submitter
- c.1823-346G>T Single submitter
- c.1823-594T>C Single submitter
- c.1823-596G>C Single submitter
- c.1823-600C>T Single submitter
- c.1823-603C>G Single submitter
- c.1823-6C>T Single submitter
- c.1823-7C>T Single submitter
- c.1823-9T>C Single submitter
- c.219+12C>T Single submitter
- c.219+13G>A Single submitter
- c.219+13G>C Single submitter
- c.219+19C>T Single submitter
- c.219+6A>G Single submitter
- c.220-11A>G Single submitter
- c.220-15C>A Single submitter
- c.220-18C>T Single submitter
- c.220-4C>A Single submitter
- c.220-7C>G Single submitter
- c.220-7C>T Single submitter
- c.220-9C>G Single submitter
- c.298+13C>T Single submitter
- c.298+17G>A Single submitter
- c.298+20C>T Single submitter
- c.298+21G>T Single submitter
- c.298+37A>C Single submitter
- c.298+44T>G Single submitter
- c.298+50C>T Single submitter
- c.298+95C>G Single submitter
- c.299-10C>T Single submitter
- c.299-15_299-12del Single submitter
- c.299-15C>T Single submitter
- c.299-16C>T Single submitter
- c.299-17T>C Single submitter
- c.299-20C>T Single submitter
- c.299-7C>T Single submitter
- c.299-8C>T Single submitter
- c.299-9C>T Single submitter
- c.366+11_366+21del Single submitter
- c.366+16C>G Single submitter
- c.366+16C>T Single submitter
- c.366+20C>T Single submitter
- c.366+7G>A Single submitter
- c.366+9C>T Single submitter
- c.367-10T>C Single submitter
- c.367-11C>T Single submitter
- c.367-16A>G Single submitter
- c.367-18C>T Single submitter
- c.499+10G>A Single submitter
- c.499+10G>C Single submitter
- c.499+18G>A Single submitter
- c.500-11G>C Single submitter
- c.500-17C>G Single submitter
- c.500-19C>T Single submitter
- c.500-6_500-5insCTTC Single submitter
- c.500-8T>A Single submitter
- c.549+11C>T Single submitter
- c.549+12G>A Single submitter
- c.549+15G>A Single submitter
- c.550-12A>C Single submitter
- c.550-12A>G Single submitter
- c.550-16G>A Single submitter
- c.550-17_550-16insCCCCCCCCCCCCCCCCGTGTT Single submitter
- c.550-18C>A Single submitter
- c.550-19A>C Single submitter
- c.550-4G>C Single submitter
- c.550-4G>T Single submitter
- c.550-5C>G Single submitter
- c.550-7C>T Single submitter
- c.550-8G>T Single submitter
- c.550-9C>T Single submitter
- c.652+11G>A Single submitter
- c.652+14C>G Single submitter
- c.652+15G>A Single submitter
- c.652+19G>T Single submitter
- c.652+20C>T Single submitter
- c.652+20del Single submitter
- c.653-10C>T Single submitter
- c.653-11C>T Single submitter
- c.653-13C>T Single submitter
- c.653-4A>G Single submitter
- c.653-7T>C Single submitter
- c.72+14C>A Single submitter
- c.72+17G>A Single submitter
- c.73-15C>T Single submitter
- c.73-18C>T Single submitter
- c.73-20C>T Single submitter
- c.73-6C>G Single submitter
- c.73-6del Single submitter
- c.73-8C>T Single submitter
- c.822+13del Single submitter
- c.822+13G>A Single submitter
- c.822+15A>G Single submitter
- c.823-10G>C Single submitter
- c.823-19C>T Single submitter
- c.823-20C>T Single submitter
- c.823-5C>T Single submitter
- c.823-6C>A Single submitter
- c.823-7C>A Single submitter
- c.823-8C>T Single submitter
- c.823-9A>T Single submitter
- c.955+8C>G Single submitter
- c.955+9C>T Single submitter
- c.956-12C>T Single submitter
Uncertain significance 550
Showing the top 300 by review status; the full set is in the sitemap.
- c.1327-3C>A Multiple submitters agammaglobulinemia 8b, autosomal recessive
- c.652+5A>G Multiple submitters
- c.955+3A>G Multiple submitters agammaglobulinemia 8, autosomal dominant
- c.955+6G>A Multiple submitters
- p.Ala109Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala115Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala225Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala281Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala290Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala296Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala296Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala400Gly Multiple submitters ⚠
- p.Ala408Thr Multiple submitters ⚠
- p.Ala43Val Multiple submitters agammaglobulinemia 8, autosomal dominant ⚠
- p.Ala453Glu Multiple submitters Inborn genetic diseases ⚠
- p.Ala556Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg105Trp Multiple submitters Inborn genetic diseases
- p.Arg159Gln Multiple submitters agammaglobulinemia 8, autosomal dominant ⚠
- p.Arg273Cys Multiple submitters ⚠
- p.Arg273His Multiple submitters ⚠
- p.Arg36Gln Multiple submitters agammaglobulinemia 8, autosomal dominant ⚠
- p.Arg438Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg438Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg487Gln Multiple submitters ⚠
- p.Arg487Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg499Gln Multiple submitters agammaglobulinemia 8b, autosomal recessive ⚠
- p.Arg525Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg527Trp Multiple submitters ⚠
- p.Arg545Gln Multiple submitters TCF3-related disorder
- p.Arg551Gln Multiple submitters ⚠
- p.Arg557Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg563Cys Multiple submitters ⚠
- p.Arg574Cys Multiple submitters ⚠
- p.Arg620Trp Multiple submitters ⚠
- p.Arg73Trp Multiple submitters agammaglobulinemia 8b, autosomal recessive ⚠
- p.Asn649His Multiple submitters TCF3-related disorder ⚠
- p.Asp167Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gln233Glu Multiple submitters ⚠
- p.Gln368Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu449Lys Multiple submitters ⚠
- p.Glu496Lys Multiple submitters TCF3-related disorder ⚠
- p.Glu505Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu77Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly112Arg Multiple submitters TCF3-related disorder ⚠
- p.Gly119Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly232Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly243Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly254Cys Multiple submitters myeloproliferative neoplasm, unclassifiable ⚠
- p.Gly275Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly285Ser Multiple submitters agammaglobulinemia 8, autosomal dominant ⚠
- p.Gly298Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly303Ser Multiple submitters ⚠
- p.Gly322Glu Multiple submitters Inborn genetic diseases
- p.Gly333Ser Multiple submitters ⚠
- p.Gly33Arg Multiple submitters ⚠
- p.Gly33Glu Multiple submitters Inborn genetic diseases
- p.Gly33Val Multiple submitters ⚠
- p.Gly376Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly376Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly385Val Multiple submitters ⚠
- p.Gly423Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly444Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly451Ser Multiple submitters TCF3-related disorder ⚠
- p.Gly484Val Multiple submitters ⚠
- p.Gly628Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly99Arg Multiple submitters ⚠
- p.His344Asn Multiple submitters Inborn genetic diseases ⚠
- p.Leu130Gln Multiple submitters ⚠
- p.Leu19Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys502Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys518Glu Multiple submitters ⚠
- p.Met433Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe293Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe69Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro135Arg Multiple submitters ⚠
- p.Pro137Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro177Leu Multiple submitters agammaglobulinemia 8, autosomal dominant ⚠
- p.Pro201Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro211His Multiple submitters myeloproliferative neoplasm, unclassifiable ⚠
- p.Pro250Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro255Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro27Gln Multiple submitters ⚠
- p.Pro27Leu Multiple submitters ⚠
- p.Pro353Leu Multiple submitters
- p.Pro353Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro37Ser Multiple submitters ⚠
- p.Pro448Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro479Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro524Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro530Arg Multiple submitters agammaglobulinemia 8, autosomal dominant ⚠
- p.Pro633Leu Multiple submitters ⚠
- p.Ser141Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser183Leu Multiple submitters Inborn genetic diseases
- p.Ser259Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser294Phe Multiple submitters ⚠
- p.Ser350Leu Multiple submitters agammaglobulinemia 8, autosomal dominant ⚠
- p.Ser483Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser495Asn Multiple submitters ⚠
- p.Ser509Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser645Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr146Ile Multiple submitters ⚠
- p.Thr300Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr366Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr411Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr417Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr108Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr382Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val256Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val304Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val403Met Multiple submitters Inborn genetic diseases ⚠
- p.Val559Met Multiple submitters
- c.1014+6G>T Single submitter
- c.1093+5G>A Single submitter
- c.1168-3C>T Single submitter
- c.1326+2T>G Single submitter
- c.1450+3A>G Single submitter
- c.1450+6C>A Single submitter
- c.1586+5C>T Single submitter
- c.1587-16_1587-6del Single submitter
- c.1822+5G>C Single submitter
- c.1823-347C>G Single submitter
- c.298+6T>C Single submitter
- c.299-86_299-6delinsAA Single submitter
- c.354_366+7dup Single submitter
- c.367-7C>G Single submitter
- c.499+6C>G Single submitter
- c.499+6C>T Single submitter
- c.500-12T>A Single submitter
- c.549+5G>A Single submitter
- c.550-9C>A Single submitter
- c.72+3G>A Single submitter
- c.72+3G>T Single submitter
- c.72+5G>T Single submitter
- c.72+6C>A Single submitter
- c.822+3A>C Single submitter
- c.823-5C>G Single submitter
- c.955+204G>A Single submitter agammaglobulinemia 8, autosomal dominant
- c.955+4T>C Single submitter
- c.955+6G>T Single submitter
- c.956-4A>C Single submitter
- c.956-6C>G Single submitter
- c.-39-202G>T Single submitter
- p.Ala107Val Single submitter agammaglobulinemia 8b, autosomal recessive ⚠
- p.Ala131Thr Single submitter ⚠
- p.Ala161Ser Single submitter ⚠
- p.Ala161Thr Single submitter ⚠
- p.Ala161Val Single submitter ⚠
- p.Ala199Ser Single submitter ⚠
- p.Ala203Gly Single submitter ⚠
- p.Ala203Pro Single submitter ⚠
- p.Ala203Val Single submitter ⚠
- p.Ala212Pro Single submitter ⚠
- p.Ala212Thr Single submitter ⚠
- p.Ala234Val Single submitter ⚠
- p.Ala290Ser Single submitter ⚠
- p.Ala314Ser Single submitter ⚠
- p.Ala374Asp Single submitter agammaglobulinemia 8, autosomal dominant ⚠
- p.Ala374Ser Single submitter ⚠
- p.Ala374Val Single submitter ⚠
- p.Ala377Ser Single submitter Inborn genetic diseases ⚠
- p.Ala377Thr Single submitter ⚠
- p.Ala38Pro Single submitter ⚠
- p.Ala38Val Single submitter ⚠
- p.Ala41Gly Single submitter Inborn genetic diseases ⚠
- p.Ala41Val Single submitter ⚠
- p.Ala440Thr Single submitter ⚠
- p.Ala453Pro Single submitter ⚠
- p.Ala463Ser Single submitter ⚠
- p.Ala463Thr Single submitter ⚠
- p.Ala463Val Single submitter ⚠
- p.Ala488Val Single submitter ⚠
- p.Ala494Thr Single submitter ⚠
- p.Ala523Gly Single submitter ⚠
- p.Ala523Thr Single submitter agammaglobulinemia 8, autosomal dominant ⚠
- p.Ala526Ser Single submitter ⚠
- p.Ala544Ser Single submitter ⚠
- p.Ala544Val Single submitter ⚠
- p.Ala550Gly Single submitter
- p.Ala553Thr Single submitter
- p.Ala553Val Single submitter
- p.Ala592Val Single submitter
- p.Ala639Val Single submitter ⚠
- p.Arg105Gln Single submitter ⚠
- p.Arg159Trp Single submitter
- p.Arg160Lys Single submitter ⚠
- p.Arg174Trp Single submitter ⚠
- p.Arg195Lys Single submitter ⚠
- p.Arg36Trp Single submitter ⚠
- p.Arg371Gln Single submitter ⚠
- p.Arg371Gly Single submitter ⚠
- p.Arg405Cys Single submitter
- p.Arg477Trp Single submitter ⚠
- p.Arg487Gly Single submitter ⚠
- p.Arg499Trp Single submitter ⚠
- p.Arg525Gly Single submitter ⚠
- p.Arg525Trp Single submitter ⚠
- p.Arg53Gln Single submitter ⚠
- p.Arg545Trp Single submitter
- p.Arg546Pro Single submitter ⚠
- p.Arg548Gly Single submitter
- p.Arg550Cys Single submitter ⚠
- p.Arg550His Single submitter ⚠
- p.Arg551Leu Single submitter ⚠
- p.Arg554Gln Single submitter
- p.Arg556Trp Single submitter
- p.Arg558His Single submitter
- p.Arg560Gln Single submitter
- p.Arg563His Single submitter ⚠
- p.Arg567Trp Single submitter
- p.Arg571Cys Single submitter
- p.Arg574His Single submitter ⚠
- p.Arg574Leu Single submitter ⚠
- p.Arg607Gln Single submitter ⚠
- p.Arg609Trp Single submitter ⚠
- p.Arg620Gln Single submitter ⚠
- p.Arg620Leu Single submitter ⚠
- p.Arg621Gln Single submitter ⚠
- p.Arg621Leu Single submitter ⚠
- p.Arg6Gly Single submitter ⚠
- p.Asn133Asp Single submitter ⚠
- p.Asn133del Single submitter
- p.Asn133His Single submitter ⚠
- p.Asn347Asp Single submitter ⚠
- p.Asn347Ser Single submitter ⚠
- p.Asn461Ser Single submitter ⚠
- p.Asn551Asp Single submitter neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
- p.Asn554Ser Single submitter ⚠
- p.Asn649Asp Single submitter ⚠
- p.Asp114Gly Single submitter ⚠
- p.Asp13Asn Single submitter ⚠
- p.Asp13Glu Single submitter ⚠
- p.Asp163Glu Single submitter ⚠
- p.Asp192Asn Single submitter ⚠
- p.Asp315Asn Single submitter ⚠
- p.Asp383Asn Single submitter ⚠
- p.Asp383Val Single submitter ⚠
- p.Asp414Asn Single submitter ⚠
- p.Asp414Glu Single submitter ⚠
- p.Asp535_Asp536insGluAsp Single submitter
- p.Asp536Asn Single submitter ⚠
- p.Asp536Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp63Gly Single submitter ⚠
- p.Gln122Leu Single submitter ⚠
- p.Gln169Lys Single submitter ⚠
- p.Gln270Arg Single submitter ⚠
- p.Gln361Arg Single submitter ⚠
- p.Gln361Glu Single submitter ⚠
- p.Gln361Lys Single submitter Inborn genetic diseases ⚠
- p.Gln390Arg Single submitter ⚠
- p.Gln468Lys Single submitter ⚠
- p.Gln574His Single submitter
- p.Gln591Ter Single submitter
- p.Gln594His Single submitter ⚠
- p.Gln594Leu Single submitter ⚠
- p.Gln604Glu Single submitter Inborn genetic diseases ⚠
- p.Gln634Arg Single submitter ⚠
- p.Glu129Ala Single submitter agammaglobulinemia 8, autosomal dominant
- p.Glu129Gln Single submitter ⚠
- p.Glu226Asp Single submitter ⚠
- p.Glu272Lys Single submitter ⚠
- p.Glu394Gly Single submitter ⚠
- p.Glu501Gly Single submitter Inborn genetic diseases ⚠
- p.Glu503Asp Single submitter ⚠
- p.Glu503Lys Single submitter Inborn genetic diseases ⚠
- p.Glu515Val Single submitter Inborn genetic diseases ⚠
- p.Glu516Lys Single submitter ⚠
- p.Glu517del Single submitter agammaglobulinemia 8, autosomal dominant
- p.Glu517Gln Single submitter ⚠
- p.Glu534Lys Single submitter ⚠
- p.Glu539Asp Single submitter
- p.Glu545Lys Single submitter ⚠
- p.Glu549Gly Single submitter ⚠
- p.Glu583Lys Single submitter ⚠
- p.Glu623Lys Single submitter ⚠
- p.Glu624Gly Single submitter ⚠
- p.Glu646Lys Single submitter ⚠
- p.Glu77Asp Single submitter agammaglobulinemia 8b, autosomal recessive ⚠
- p.Gly103Asp Single submitter ⚠
- p.Gly119Asp Single submitter ⚠
- p.Gly136Arg Single submitter ⚠
- p.Gly142Ala Single submitter ⚠
- p.Gly145_Thr146insGly Single submitter
- p.Gly145Glu Single submitter ⚠
- p.Gly155Ser Single submitter ⚠
- p.Gly164Asp Single submitter ⚠
- p.Gly179Ser Single submitter Inborn genetic diseases
- p.Gly190Cys Single submitter Inborn genetic diseases ⚠
- p.Gly194Asp Single submitter ⚠
- p.Gly232Cys Single submitter ⚠
- p.Gly237Arg Single submitter ⚠
- p.Gly241Cys Single submitter ⚠
- p.Gly252Asp Single submitter ⚠
- p.Gly252Cys Single submitter ⚠
- p.Gly252Ser Single submitter ⚠
- p.Gly252Val Single submitter Inborn genetic diseases ⚠
- p.Gly257Ser Single submitter ⚠
- p.Gly260Val Single submitter ⚠
- p.Gly275Cys Single submitter ⚠
- p.Gly298Arg Single submitter ⚠
- p.Gly319Ser Single submitter ⚠