MALT1 — 427 ClinVar variants

All ClinVar germline MALT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

15 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 5 Conflicting · 21 Benign · 3 Benign/Likely benign · 199 Likely benign · 173 Uncertain significance

Full MALT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 157

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 3

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

MALT1 p.His778Arg Conflicting Single submitter
Inborn genetic diseases
MALT1 p.Pro168Thr Conflicting Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Val428Ile Conflicting Single submitter
combined immunodeficiency due to MALT1 deficiency

Predictors lean, ClinVar uncertain 106

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

MALT1 p.Ala413Val Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Ala774Pro Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Arg149Gln Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Arg296Gln Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Arg719Gln Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Arg781Gln Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asn734Asp Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asp755Glu Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Glu224Asp Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Glu572Asp Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Glu85Lys Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.His762Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Leu586Ile Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Leu695Phe Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Lys665Glu Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Met732Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Pro17Ser Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Pro812Leu Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Tyr288Cys Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Val222Ala Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Val395Ala Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Val442Ile Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Val803Ala Uncertain significance Multiple submitters
MALT1-related disorder
MALT1 p.Ala112Asp Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Ala496Val Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Ala791Gly Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Ala791Thr Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Arg392His Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Arg558Lys Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Asn195Asp Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asn195Ser Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Asn432Ser Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asn485Ser Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asn577Ser Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asp281Asn Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asp320Gly Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asp640Gly Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asp697Asn Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asp697Glu Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Asp784Val Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Cys230Tyr Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Cys317Arg Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Cys317Tyr Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Cys539Arg Uncertain significance Single submitter
MALT1 p.Cys730Arg Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Gln157His Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Gln159Lys Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Gln285Glu Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Gln738Lys Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Gln754Arg Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Glu313Gly Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Glu368Lys Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Glu437Asp Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Glu453Asp Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Glu588Gln Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Glu607Val Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Glu704Gln Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Glu806Gln Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Gly100Asp Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Gly414Arg Uncertain significance Single submitter
MALT1 p.Gly735Cys Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.His115Arg Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.His153Arg Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.His181Arg Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.His269Arg Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.His269Gln Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.His681Arg Uncertain significance Single submitter
MALT1 p.His681Gln Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.His758Arg Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.His762Asp Uncertain significance Single submitter
MALT1 p.His764Tyr Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.His778Asp Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.His778Gln Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.His797Leu Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Ile127Val Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Ile307Leu Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Ile618Val Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Leu477Val Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Leu731Val Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Lys379Thr Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Lys724Asn Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Met163Thr Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Met590Val Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Phe514Cys Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Phe813Ser Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Pro563Ser Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Ser689Leu Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Ser776Gly Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Ser814Asn Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Thr197Ala Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Thr234Ala Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Thr311Ile Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Thr318Ala Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Thr473Ser Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Thr492Met Uncertain significance Single submitter
MALT1 p.Thr725Ser Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Tyr288Ser Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Tyr293Ser Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Tyr470His Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Tyr669Cys Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Tyr750His Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Val222Ile Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Val249Leu Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Val619Ala Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Val632Ile Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Val659Leu Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency

Predictors split 48

The independent predictors disagree with each other — read with care.

MALT1 p.Arg354Pro Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Arg392Cys Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Pro623Leu Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Ser214Ile Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Ser436Cys Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Thr633Ile Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Tyr275Cys Uncertain significance Multiple submitters
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Val277Met Uncertain significance Multiple submitters
Inborn genetic diseases
MALT1 p.Ala630Thr Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Arg149Trp Uncertain significance Single submitter
MALT1 p.Arg354Trp Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Arg435Thr Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Arg576Trp Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Arg781Trp Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asn171Ser Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asn171Tyr Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asn193Lys Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Asn294His Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asn706Ser Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asp210Asn Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asp281Tyr Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Asp300Glu Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Asp300Gly Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Cys687Ser Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Gln691His Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Glu437Gly Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Glu556Lys Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Glu652Asp Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.His584Tyr Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Ile625Met Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Leu106Phe Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Leu122Phe Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Leu578Pro Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Lys523Arg Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Met113Val Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Met351Arg Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Phe420Ile Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Phe635Leu Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Ser173Pro Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Ser301Gly Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Ser776Asn Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Tyr293Cys Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Tyr620Cys Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Tyr631Cys Uncertain significance Single submitter
Inborn genetic diseases
MALT1 p.Val231Ala Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Val364Met Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Val707Phe Uncertain significance Single submitter
combined immunodeficiency due to MALT1 deficiency
MALT1 p.Trp580Ser Pathogenic No assertion criteria
combined immunodeficiency due to MALT1 deficiency

All MALT1 variants

Pathogenic 15

p.Arg191Ter Multiple submitters combined immunodeficiency due to MALT1 deficiency
p.Thr102fs Multiple submitters combined immunodeficiency due to MALT1 deficiency
p.Arg518fs Single submitter combined immunodeficiency due to MALT1 deficiency
p.Arg551Ter Single submitter
p.Cys441fs Single submitter combined immunodeficiency due to MALT1 deficiency
p.Gln205fs Single submitter combined immunodeficiency due to MALT1 deficiency
p.Gln502Ter Single submitter combined immunodeficiency due to MALT1 deficiency
p.Glu453fs Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu440fs Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu554delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaGlyArgLeuGlnTer Single submitter combined immunodeficiency due to MALT1 deficiency
p.Lys273fs Single submitter combined immunodeficiency due to MALT1 deficiency
p.Phe198fs Single submitter combined immunodeficiency due to MALT1 deficiency
p.Phe200fs Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ser89Ile No assertion criteria combined immunodeficiency due to MALT1 deficiency
p.Trp580Ser No assertion criteria combined immunodeficiency due to MALT1 deficiency ⚠

Pathogenic/Likely pathogenic 1

c.926_929delGAAG Multiple submitters combined immunodeficiency due to MALT1 deficiency

Likely pathogenic 10

c.1019-2A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.1475+1G>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.1911+1G>T Single submitter combined immunodeficiency due to MALT1 deficiency
c.926-1G>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.949_958+73del Single submitter combined immunodeficiency due to MALT1 deficiency
c.986-1G>C Single submitter combined immunodeficiency due to MALT1 deficiency
p.Arg296Ter Single submitter combined immunodeficiency due to MALT1 deficiency
p.Asp184Tyr Single submitter combined immunodeficiency due to MALT1 deficiency
p.Lys538fs Single submitter severe combined immunodeficiency
p.Pro651fs Single submitter combined immunodeficiency due to MALT1 deficiency

Conflicting classifications of pathogenicity 5

c.1401-15G>T Single submitter combined immunodeficiency due to MALT1 deficiency
c.649+9C>T Single submitter combined immunodeficiency due to MALT1 deficiency
p.His778Arg Single submitter Inborn genetic diseases ⚠
p.Pro168Thr Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Val428Ile Single submitter combined immunodeficiency due to MALT1 deficiency ⚠

Benign 21

c.1400+20T>C Multiple submitters combined immunodeficiency due to MALT1 deficiency
c.1401-16C>T Multiple submitters combined immunodeficiency due to MALT1 deficiency
c.1912-5del Multiple submitters combined immunodeficiency due to MALT1 deficiency
p.Ala340= Multiple submitters combined immunodeficiency due to MALT1 deficiency
p.Leu446= Multiple submitters combined immunodeficiency due to MALT1 deficiency
p.Pro433= Multiple submitters combined immunodeficiency due to MALT1 deficiency
c.1018+18dup Single submitter combined immunodeficiency due to MALT1 deficiency
c.1019-6del Single submitter combined immunodeficiency due to MALT1 deficiency
c.1019-6dup Single submitter combined immunodeficiency due to MALT1 deficiency
c.1476-4dup Single submitter combined immunodeficiency due to MALT1 deficiency
c.1603+13del Single submitter combined immunodeficiency due to MALT1 deficiency
c.1753+21dup Single submitter combined immunodeficiency due to MALT1 deficiency
c.1912-5dup Single submitter combined immunodeficiency due to MALT1 deficiency
c.1912-6_1912-5dup Single submitter combined immunodeficiency due to MALT1 deficiency
c.2037+13del Single submitter combined immunodeficiency due to MALT1 deficiency
c.2038-10dup Single submitter combined immunodeficiency due to MALT1 deficiency
c.498+10dup Single submitter combined immunodeficiency due to MALT1 deficiency
c.649+18C>T Single submitter combined immunodeficiency due to MALT1 deficiency
c.986-4A>G Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ala785Val Single submitter combined immunodeficiency due to MALT1 deficiency
c.377-3del No assertion criteria MALT1-related disorder

Benign/Likely benign 3

c.1223-20_1223-17del Multiple submitters combined immunodeficiency due to MALT1 deficiency
p.Arg217Gly Multiple submitters combined immunodeficiency due to MALT1 deficiency
p.Ser660= Multiple submitters combined immunodeficiency due to MALT1 deficiency

Likely benign 199

c.1019-5C>T Multiple submitters combined immunodeficiency due to MALT1 deficiency
p.Asp73Glu Multiple submitters combined immunodeficiency due to MALT1 deficiency
p.Ile641Val Multiple submitters combined immunodeficiency due to MALT1 deficiency
p.Lys226Arg Multiple submitters combined immunodeficiency due to MALT1 deficiency
p.Pro427= Multiple submitters combined immunodeficiency due to MALT1 deficiency
p.Thr483= Multiple submitters combined immunodeficiency due to MALT1 deficiency
c.1018+15A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.1018+19T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.1019-15del Single submitter combined immunodeficiency due to MALT1 deficiency
c.1019-16T>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.1019-5dup Single submitter combined immunodeficiency due to MALT1 deficiency
c.1222+15A>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.1223-17A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.1223-18dup Single submitter combined immunodeficiency due to MALT1 deficiency
c.1223-18T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.1223-19_1223-18del Single submitter combined immunodeficiency due to MALT1 deficiency
c.1223-20_1223-18del Single submitter combined immunodeficiency due to MALT1 deficiency
c.1223-21_1223-18del Single submitter combined immunodeficiency due to MALT1 deficiency
c.1401-15G>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.1401-17C>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.1401-17C>T Single submitter combined immunodeficiency due to MALT1 deficiency
c.1401-20C>T Single submitter combined immunodeficiency due to MALT1 deficiency
c.1401-26_1401-17del Single submitter combined immunodeficiency due to MALT1 deficiency
c.1401-4A>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.1401-6A>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.1475+12T>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.1475+13G>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.1475+17T>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.1476-17C>T Single submitter combined immunodeficiency due to MALT1 deficiency
c.1476-20C>T Single submitter combined immunodeficiency due to MALT1 deficiency
c.1476-9A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.1603+11_1603+17del Single submitter combined immunodeficiency due to MALT1 deficiency
c.1603+16A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.1603+18_1603+22del Single submitter combined immunodeficiency due to MALT1 deficiency
c.1604-11del Single submitter combined immunodeficiency due to MALT1 deficiency
c.1604-7C>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.1604-8T>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.1753+10A>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.1753+15A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.1753+16T>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.1754-14T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.1754-15A>T Single submitter combined immunodeficiency due to MALT1 deficiency
c.1754-18_1754-16del Single submitter combined immunodeficiency due to MALT1 deficiency
c.1754-18C>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.1754-20T>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.1754-8T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.1911+14T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.1912-16A>T Single submitter combined immunodeficiency due to MALT1 deficiency
c.1912-17A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.1912-18_1912-17insG Single submitter combined immunodeficiency due to MALT1 deficiency
c.1912-20C>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.1912-6T>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.2037+12T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.2037+7A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.2038-15T>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.2038-17A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.2038-17del Single submitter combined immunodeficiency due to MALT1 deficiency
c.2038-8C>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.209+15G>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.210-14T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.210-16T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.210-19T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.210-20A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.210-7C>T Single submitter combined immunodeficiency due to MALT1 deficiency
c.376+13C>T Single submitter combined immunodeficiency due to MALT1 deficiency
c.377-15_377-3del Single submitter combined immunodeficiency due to MALT1 deficiency
c.377-16_377-3del Single submitter combined immunodeficiency due to MALT1 deficiency
c.377-16T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.377-6T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.498+10T>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.498+11A>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.498+20T>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.499-13G>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.499-15T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.499-18T>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.499-6T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.499-8_499-5del Single submitter combined immunodeficiency due to MALT1 deficiency
c.649+10G>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.650-15_650-14del Single submitter combined immunodeficiency due to MALT1 deficiency
c.828+13T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.828+19G>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.828+9T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.829-10A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.829-17_829-16insAAGT Single submitter combined immunodeficiency due to MALT1 deficiency
c.829-20A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.829-4A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.829-9T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.925+16C>T Single submitter combined immunodeficiency due to MALT1 deficiency
c.925+18A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.925+8G>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.958+10G>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.958+17G>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.959-11C>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.959-17C>T Single submitter combined immunodeficiency due to MALT1 deficiency
c.985+14A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.986-5T>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.986-5T>C Single submitter combined immunodeficiency due to MALT1 deficiency
c.986-6G>A Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ala137= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ala179= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ala559= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ala571= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ala741= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ala742= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ala747= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Asn419= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Asn422= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Asn432= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Asn770= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Asp336= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Asp775= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Asp817= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Cys209= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Gln142= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Gln157= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Gln285= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Gln375= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Gln691= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Gln728= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Glu105= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Glu232= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Glu264= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Glu388= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Glu437= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Glu451= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Glu549= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Gly152= Single submitter
p.Gly186= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Gly221= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Gly655= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Gly759= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Gly766= Single submitter combined immunodeficiency due to MALT1 deficiency
p.His284= Single submitter combined immunodeficiency due to MALT1 deficiency
p.His291= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ile229= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ile476= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ile613= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu122= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu274= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu347= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu386= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu461= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu480= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu529= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu548= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu554= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu574= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu675= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu695= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu711= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu79= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Leu93= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Lys226= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Lys273= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Lys513= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Lys545= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Phe608= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Phe635= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Phe790= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Pro266= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Pro431= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Pro623= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Pro736= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Pro88= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ser201= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ser504= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ser689= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ser693= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ser739= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ser740= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ser795= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ser814= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ser87= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Thr234= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Thr271= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Thr387= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Thr526= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Thr808= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Tyr279= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Tyr288= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Tyr293= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Tyr353= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Tyr367= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Tyr412= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Tyr434= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Tyr470= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Tyr615= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Tyr631= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Val131= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Val144= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Val219= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Val245= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Val366= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Val458= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Val527= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Val611= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Val659= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Val683= Single submitter combined immunodeficiency due to MALT1 deficiency
p.Val705= Single submitter combined immunodeficiency due to MALT1 deficiency

Uncertain significance 173

p.Ala413Val Multiple submitters Inborn genetic diseases ⚠
p.Ala774Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg149Gln Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.Arg296Gln Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.Arg354Pro Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.Arg392Cys Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.Arg719Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg781Gln Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.Asn734Asp Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.Asp755Glu Multiple submitters Inborn genetic diseases ⚠
p.Glu224Asp Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.Glu572Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu85Lys Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.His762Tyr Multiple submitters Inborn genetic diseases ⚠
p.Leu586Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu695Phe Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.Lys665Glu Multiple submitters Inborn genetic diseases ⚠
p.Met732Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro17Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro623Leu Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.Pro812Leu Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.Ser214Ile Multiple submitters Inborn genetic diseases ⚠
p.Ser436Cys Multiple submitters Inborn genetic diseases ⚠
p.Ter825Cys Multiple submitters combined immunodeficiency due to MALT1 deficiency
p.Thr633Ile Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.Tyr275Cys Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.Tyr288Cys Multiple submitters Inborn genetic diseases ⚠
p.Val222Ala Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.Val277Met Multiple submitters Inborn genetic diseases ⚠
p.Val395Ala Multiple submitters Inborn genetic diseases ⚠
p.Val442Ile Multiple submitters combined immunodeficiency due to MALT1 deficiency ⚠
p.Val803Ala Multiple submitters MALT1-related disorder ⚠
c.1018+6T>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.1476-15_1476-10del Single submitter combined immunodeficiency due to MALT1 deficiency
c.1753+4C>T Single submitter combined immunodeficiency due to MALT1 deficiency
c.1753+5G>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.1911+3_1911+6del Single submitter combined immunodeficiency due to MALT1 deficiency
c.1911+4A>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.210-5T>G Single submitter combined immunodeficiency due to MALT1 deficiency
c.376+5G>A Single submitter combined immunodeficiency due to MALT1 deficiency
c.985+6T>C Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ala112Asp Single submitter Inborn genetic diseases ⚠
p.Ala496Val Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Ala630Thr Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Ala791Gly Single submitter Inborn genetic diseases ⚠
p.Ala791Thr Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Arg149Trp Single submitter ⚠
p.Arg354Trp Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Arg392His Single submitter Inborn genetic diseases ⚠
p.Arg435Thr Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Arg558Lys Single submitter Inborn genetic diseases ⚠
p.Arg576Trp Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Arg719Ter Single submitter combined immunodeficiency due to MALT1 deficiency
p.Arg781Trp Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Arg820_Glu823delinsIleIleSerVal Single submitter combined immunodeficiency due to MALT1 deficiency
p.Asn171Ser Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asn171Tyr Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asn193Lys Single submitter Inborn genetic diseases ⚠
p.Asn195Asp Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asn195Ser Single submitter Inborn genetic diseases ⚠
p.Asn294His Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asn432Ser Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asn485Ser Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asn577Ser Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asn706Ser Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asp210Asn Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asp281Asn Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asp281Tyr Single submitter Inborn genetic diseases ⚠
p.Asp300Glu Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asp300Gly Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asp320Gly Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asp640Gly Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asp662_Leu663delinsVal Single submitter combined immunodeficiency due to MALT1 deficiency
p.Asp697Asn Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Asp697Glu Single submitter Inborn genetic diseases ⚠
p.Asp784_Phe790dup Single submitter combined immunodeficiency due to MALT1 deficiency
p.Asp784Val Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Cys230Tyr Single submitter Inborn genetic diseases ⚠
p.Cys317Arg Single submitter Inborn genetic diseases ⚠
p.Cys317Tyr Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Cys539Arg Single submitter ⚠
p.Cys687Ser Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Cys730Arg Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Cys796_Arg800dup Single submitter combined immunodeficiency due to MALT1 deficiency
p.Gln157His Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Gln159Lys Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Gln285Glu Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Gln691His Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Gln738Lys Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Gln754Arg Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Glu313Gly Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Glu368Lys Single submitter Inborn genetic diseases ⚠
p.Glu437Asp Single submitter Inborn genetic diseases ⚠
p.Glu437Gly Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Glu453Asp Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Glu556del Single submitter combined immunodeficiency due to MALT1 deficiency
p.Glu556Lys Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Glu588Gln Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Glu607Val Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Glu652Asp Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Glu704Gln Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Glu806Gln Single submitter Inborn genetic diseases ⚠
p.Gly100Asp Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Gly414Arg Single submitter ⚠
p.Gly735Cys Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.His115Arg Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.His153Arg Single submitter Inborn genetic diseases ⚠
p.His181Arg Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.His269Arg Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.His269Gln Single submitter Inborn genetic diseases ⚠
p.His584Tyr Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.His681Arg Single submitter ⚠
p.His681Gln Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.His718fs Single submitter combined immunodeficiency due to MALT1 deficiency
p.His758Arg Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.His762Asp Single submitter ⚠
p.His764Tyr Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.His778Asp Single submitter Inborn genetic diseases ⚠
p.His778Gln Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.His797Leu Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Ile127Val Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Ile307Leu Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Ile618Val Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Ile625Met Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Leu106Phe Single submitter Inborn genetic diseases ⚠
p.Leu122Phe Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Leu477Val Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Leu578Pro Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Leu731Val Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Lys379Thr Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Lys523Arg Single submitter Inborn genetic diseases ⚠
p.Lys724Asn Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Met113Val Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Met163Thr Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Met351Arg Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Met590Val Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Phe420Ile Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Phe514Cys Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Phe635Leu Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Phe813Ser Single submitter Inborn genetic diseases ⚠
p.Pro563Ser Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Ser173Pro Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Ser301Gly Single submitter Inborn genetic diseases ⚠
p.Ser689Leu Single submitter Inborn genetic diseases ⚠
p.Ser776Asn Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Ser776fs Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ser776Gly Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Ser780dup Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ser801dup Single submitter combined immunodeficiency due to MALT1 deficiency
p.Ser814Asn Single submitter Inborn genetic diseases ⚠
p.Thr197Ala Single submitter Inborn genetic diseases ⚠
p.Thr234Ala Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Thr311Ile Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Thr318Ala Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Thr473Ser Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Thr492Met Single submitter ⚠
p.Thr725Ser Single submitter Inborn genetic diseases ⚠
p.Tyr288Ser Single submitter Inborn genetic diseases ⚠
p.Tyr293Cys Single submitter Inborn genetic diseases ⚠
p.Tyr293Ser Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Tyr470His Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Tyr620Cys Single submitter Inborn genetic diseases ⚠
p.Tyr631Cys Single submitter Inborn genetic diseases ⚠
p.Tyr669Cys Single submitter Inborn genetic diseases ⚠
p.Tyr750His Single submitter Inborn genetic diseases ⚠
p.Val222Ile Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Val231Ala Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Val249Leu Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Val364Met Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Val619Ala Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Val632Ile Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Val659Leu Single submitter combined immunodeficiency due to MALT1 deficiency ⚠
p.Val707Phe Single submitter combined immunodeficiency due to MALT1 deficiency ⚠