STAT1 — 762 ClinVar variants

All ClinVar germline STAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 217 flagged for review →

54 Pathogenic · 3 Pathogenic/Likely pathogenic · 44 Likely pathogenic · 26 Conflicting · 36 Benign · 23 Benign/Likely benign · 308 Likely benign · 268 Uncertain significance

Full STAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 217

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

Predictors vs ClinVar 14

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

STAT1 p.Arg274Gln Pathogenic Multiple submitters
STAT1-related disorder
STAT1 p.Asn89Tyr Likely pathogenic Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Cys174Arg Likely pathogenic Single submitter
Inherited Immunodeficiency Diseases
STAT1 p.Gln285Arg Pathogenic Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Glu284Gly Likely pathogenic Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Lys286Gln Likely pathogenic Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Thr288Ala Pathogenic Single submitter
immunodeficiency 31B
STAT1 p.Thr387Ala Pathogenic Single submitter
immunodeficiency 31B
STAT1 p.Thr720Ile Likely pathogenic Single submitter
Inherited Immunodeficiency Diseases
STAT1 p.Asn179Lys Pathogenic No assertion criteria
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Lys201Asn Pathogenic No assertion criteria
immunodeficiency 31B
STAT1 p.Lys673Arg Pathogenic No assertion criteria
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Met202Ile Pathogenic No assertion criteria
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Thr295Lys Pathogenic No assertion criteria
chronic mucocutaneous candidiasis

Predictors agree, ClinVar conflicts 8

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

STAT1 p.Arg241Gln Conflicting Single submitter
Inborn genetic diseases
STAT1 p.Asn515Ser Conflicting Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Asp447Glu Conflicting Single submitter
immunodeficiency 31B
STAT1 p.Asp65Gly Conflicting Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Gln67Arg Conflicting Single submitter
STAT1-related disorder
STAT1 p.Ile265Val Conflicting Single submitter
immunodeficiency 31B
STAT1 p.Met390Arg Conflicting Single submitter
immunodeficiency 31B
STAT1 p.Val266Ile Conflicting Single submitter
immunodeficiency 31B

Predictors lean, ClinVar uncertain 129

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

STAT1 p.Ala589Ser Uncertain significance Multiple submitters
Inborn genetic diseases
STAT1 p.Ala589Thr Uncertain significance Multiple submitters
immunodeficiency 31B
STAT1 p.Arg586Gln Uncertain significance Multiple submitters
immunodeficiency 31B
STAT1 p.Arg619Gln Uncertain significance Multiple submitters
immunodeficiency 31B
STAT1 p.Asn179Ser Uncertain significance Multiple submitters
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Asp143Glu Uncertain significance Multiple submitters
immunodeficiency 31B
STAT1 p.Asp744Asn Uncertain significance Multiple submitters
Inborn genetic diseases
STAT1 p.Cys155Arg Uncertain significance Multiple submitters
immunodeficiency 31B
STAT1 p.Ile160Leu Uncertain significance Multiple submitters
immunodeficiency 31B
STAT1 p.Ile446Val Uncertain significance Multiple submitters
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Ile582Val Uncertain significance Multiple submitters
immunodeficiency 31B
STAT1 p.Ile671Thr Uncertain significance Multiple submitters
Inborn genetic diseases
STAT1 p.Leu199Pro Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Met746Val Uncertain significance Multiple submitters
immunodeficiency 31B
STAT1 p.Pro538Leu Uncertain significance Multiple submitters
immunodeficiency 31B
STAT1 p.Pro696His Uncertain significance Multiple submitters
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Thr224Ser Uncertain significance Multiple submitters
Inborn genetic diseases
STAT1 p.Thr373Ser Uncertain significance Multiple submitters
Inborn genetic diseases
STAT1 p.Thr450Ala Uncertain significance Multiple submitters
Inborn genetic diseases
STAT1 p.Val134Leu Uncertain significance Multiple submitters
immunodeficiency 31B
STAT1 p.Val455Ile Uncertain significance Multiple submitters
immunodeficiency 31B
STAT1 p.Ala401Glu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Ala531Thr Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Ala589Pro Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Ala656Val Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Ala687Pro Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Arg147Lys Uncertain significance Single submitter
STAT1 p.Arg331Gly Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Arg346Ser Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Arg56His Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Arg608Trp Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Arg70Cys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Arg70Gly Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Arg88His Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Asn123Ser Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Asn185Ser Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Asn208Ser Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Asn253Asp Uncertain significance Single submitter
Inborn genetic diseases
STAT1 p.Asn253Ser Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Asn297Asp Uncertain significance Single submitter
Inborn genetic diseases
STAT1 p.Asn369Ser Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Asn372Ser Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Asn460Asp Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Asn48Ser Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Asn548Ser Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Asn650Ser Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Asn658Lys Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Asn670Ser Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Asp11Glu Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Asp23Val Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Asp672Glu Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Asp92Glu Uncertain significance Single submitter
STAT1 p.Cys247Tyr Uncertain significance Single submitter
Inborn genetic diseases
STAT1 p.Cys543Trp Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Gln120Glu Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Gln126His Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Gln167Pro Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Gln178Arg Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Gln258Leu Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Gln594His Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Glu212Gln Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Glu290Lys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Glu29Ala Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Glu393Gly Uncertain significance Single submitter
STAT1 p.Glu44Asp Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Glu563Gln Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Glu563Gly Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Glu625Asp Uncertain significance Single submitter
Inborn genetic diseases
STAT1 p.Glu632Gln Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Glu6Asp Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Glu6Lys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Glu730Asp Uncertain significance Single submitter
Inborn genetic diseases
STAT1 p.Gly384Val Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Gly580Asp Uncertain significance Single submitter
STAT1 p.Gly580Cys Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Gly580Ser Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.His291Tyr Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Ile130Thr Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Ile156Met Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Ile156Thr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Ile30Val Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Ile313Val Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Ile671Val Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Ile99Val Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Leu199Phe Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Leu221Gln Uncertain significance Single submitter
Inborn genetic diseases
STAT1 p.Leu259Pro Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Leu312Phe Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Leu351Trp Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Leu358Ser Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Leu407Arg Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Leu488Pro Uncertain significance Single submitter
Inborn genetic diseases
STAT1 p.Leu570Phe Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Lys13Arg Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Lys145Arg Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Lys286Glu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Lys336Met Uncertain significance Single submitter
Inborn genetic diseases
STAT1 p.Lys375Arg Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Met154Ile Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Met154Thr Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Met325Thr Uncertain significance Single submitter
STAT1 p.Met390Ile Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Met390Thr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Pro326Ser Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Pro332Leu Uncertain significance Single submitter
STAT1 p.Pro465Arg Uncertain significance Single submitter
STAT1 p.Pro481Thr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Pro553Ser Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Ser127Leu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Ser462Arg Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Ser503Thr Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Ser606Asn Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Ser715Cys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Thr264Ile Uncertain significance Single submitter
STAT1 p.Thr305Ser Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Thr342Pro Uncertain significance Single submitter
STAT1 p.Thr387Pro Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Thr427Asn Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Thr635Met Uncertain significance Single submitter
Inborn genetic diseases
STAT1 p.Trp262Cys Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Tyr68Cys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Val300Leu Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Val319Met Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Val360Phe Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Val445Ile Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Val455Phe Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Val461Ile Uncertain significance Single submitter
Inborn genetic diseases
STAT1 p.Val617Met Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Val712Ile Uncertain significance Single submitter
immunodeficiency 31B

Predictors split 66

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

STAT1 p.Ala267Val Pathogenic Multiple submitters
STAT1-related disorder
STAT1 p.Arg331Lys Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Asp171Asn Likely pathogenic Multiple submitters
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Asp292Glu Likely pathogenic Multiple submitters
immunodeficiency 31B
STAT1 p.Gln271Pro Pathogenic/Likely pathogenic Multiple submitters
STAT1-related disorder
STAT1 p.Glu500Lys Uncertain significance Multiple submitters
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Phe172Leu Pathogenic Multiple submitters
STAT1-related disorder
STAT1 p.Thr288Ile Pathogenic Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Thr419Arg Uncertain significance Multiple submitters
immunodeficiency 31B
STAT1 p.Thr450Met Uncertain significance Multiple submitters
immunodeficiency 31B
STAT1 p.Ala676Ser Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Arg210Lys Conflicting Single submitter
immunodeficiency 31B
STAT1 p.Arg586Gly Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Arg649His Uncertain significance Single submitter
STAT1 p.Arg736Trp Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Asn355Asp Pathogenic Single submitter
STAT1 p.Asn658Ser Pathogenic Single submitter
STAT1 p.Asn82Lys Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Asp165His Likely pathogenic Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Asp171His Likely pathogenic Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Asp65Asn Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Gln167His Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Gln330Arg Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Gln67Lys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Glu169Val Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Glu16Gln Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Glu284Lys Conflicting Single submitter
Inherited Immunodeficiency Diseases
STAT1 p.Glu559Gln Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Gly467Ser Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Gly623Arg Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.His629Leu Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.His629Tyr Likely pathogenic Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Ile248Thr Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Ile648Val Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Ile659Thr Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Leu383Val Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Leu433Val Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Leu484Pro Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Leu514Phe Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Lys173Ile Likely pathogenic Single submitter
STAT1 p.Met202Thr Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Met390Val Conflicting Single submitter
Inborn genetic diseases
STAT1 p.Phe14Leu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Phe364Leu Conflicting Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Pro293Ala Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Pro293Leu Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Pro293Thr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Pro329Leu Likely pathogenic Single submitter
STAT1-related disorder
STAT1 p.Pro423Arg Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Pro490Leu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Pro596Leu Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Pro725Leu Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Ser532Gly Uncertain significance Single submitter
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Thr540Met Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Tyr287Asp Likely pathogenic Single submitter
Inherited Immunodeficiency Diseases
STAT1 p.Tyr356Cys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Tyr668Phe Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Tyr701Asn Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Tyr701Cys Pathogenic Single submitter
immunodeficiency 31B
STAT1 p.Val501Leu Uncertain significance Single submitter
immunodeficiency 31B
STAT1 p.Val709Gly Uncertain significance Single submitter
Inborn genetic diseases
STAT1 p.Asp165Gly Pathogenic No assertion criteria
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Leu706Ser Pathogenic No assertion criteria
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1 p.Lys278Glu Pathogenic No assertion criteria
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
STAT1 p.Met392Thr Likely pathogenic No assertion criteria
STAT1-related disorder
STAT1 p.Pro329Arg Likely pathogenic No assertion criteria
STAT1-related disorder

All STAT1 variants

Pathogenic 54

p.Ala267Val Multiple submitters STAT1-related disorder ⚠
p.Arg274Gln Multiple submitters STAT1-related disorder ⚠
p.Arg274Trp Multiple submitters STAT1-related disorder
p.Ile30fs Multiple submitters immunodeficiency 31B
p.Phe172Leu Multiple submitters STAT1-related disorder ⚠
p.Thr288Ile Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Thr385Met Multiple submitters Inherited Immunodeficiency Diseases
p.Val339fs Multiple submitters immunodeficiency 31B
c.1127+1G>A Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.373-2A>C Single submitter immunodeficiency 31B
p.Ala402Phe Single submitter
p.Arg321Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Asn355Asp Single submitter ⚠
p.Asn414Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Asn658Ser Single submitter ⚠
p.Asp257fs Single submitter immunodeficiency 31B
p.Gln285Arg Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Gln299fs Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Gln463His Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Gln67Pro Single submitter immunodeficiency 31B
p.Gln9Ter Single submitter immunodeficiency 31B
p.Glu268Ter Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Glu411fs Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Glu429fs Single submitter immunodeficiency 31B
p.Glu563Val Single submitter immunodeficiency 31B
p.Ile232fs Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Ile612fs Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Leu667fs Single submitter immunodeficiency 31B
p.Lys388Gln Single submitter immunodeficiency 31B
p.Lys388Glu Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Met202Val Single submitter immunodeficiency 31B
p.Ser25fs Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Ser466Arg Single submitter immunodeficiency 31B
p.Thr227fs Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Thr288Ala Single submitter immunodeficiency 31B ⚠
p.Thr387Ala Single submitter immunodeficiency 31B ⚠
p.Tyr287Ter Single submitter immunodeficiency 31B
p.Tyr289Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Tyr701Cys Single submitter immunodeficiency 31B ⚠
p.Asn179Lys No assertion criteria autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Asp165Gly No assertion criteria autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Glu320Gln No assertion criteria Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu600Pro No assertion criteria immunodeficiency 31B
p.Leu706Ser No assertion criteria Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Lys201Asn No assertion criteria immunodeficiency 31B ⚠
p.Lys278Glu No assertion criteria autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Lys286Ile No assertion criteria autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Lys637Glu No assertion criteria Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Lys673Arg No assertion criteria Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Met202Ile No assertion criteria autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Thr295Lys No assertion criteria chronic mucocutaneous candidiasis ⚠
p.Thr643fs No assertion criteria immunodeficiency 31B
p.Tyr170Asn No assertion criteria autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Val389Leu No assertion criteria autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

Pathogenic/Likely pathogenic 3

p.Arg274Gly Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Gln271Pro Multiple submitters STAT1-related disorder ⚠
p.Thr437Ile Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

Likely pathogenic 44

p.Asp171Asn Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Asp292Glu Multiple submitters immunodeficiency 31B ⚠
p.Cys324Arg Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Tyr289His Multiple submitters STAT1-related disorder
c.1128-1G>A Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1632+1G>A Single submitter immunodeficiency 31B
c.2135+2T>A Single submitter immunodeficiency 31B
c.372+2T>C Single submitter immunodeficiency 31B
c.541+63C>T Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Arg70Pro Single submitter Inherited Immunodeficiency Diseases
p.Asn89Tyr Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Asp165His Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Asp171His Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Cys174Arg Single submitter Inherited Immunodeficiency Diseases ⚠
p.Gln497Ter Single submitter
p.Glu284Gly Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Glu545Lys Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Glu587fs Single submitter immunodeficiency 31B
p.Glu618Ter Single submitter
p.Gly384Asp Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.His629Tyr Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Leu280Trp Single submitter Inherited Immunodeficiency Diseases
p.Leu351Phe Single submitter
p.Leu400Pro Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu400Val Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Lys140fs Single submitter
p.Lys173Ile Single submitter ⚠
p.Lys286Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Lys361fs Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Lys388Asn Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Met325Lys Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Phe404Val Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Pro251fs Single submitter
p.Pro251Leu Single submitter
p.Pro329Leu Single submitter STAT1-related disorder ⚠
p.Ser62Ter Single submitter immunodeficiency 31B
p.Thr437Asn Single submitter
p.Thr720Ile Single submitter Inherited Immunodeficiency Diseases ⚠
p.Tyr287Asp Single submitter Inherited Immunodeficiency Diseases ⚠
p.Tyr356Asp Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Val339Phe Single submitter immunodeficiency 31B
p.Val389Gly Single submitter immunodeficiency 31B
p.Met392Thr No assertion criteria STAT1-related disorder ⚠
p.Pro329Arg No assertion criteria STAT1-related disorder ⚠

Conflicting classifications of pathogenicity 26

c.1038-3C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1127+4C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1222-5T>C Single submitter immunodeficiency 31B
c.1632+6G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1727+13G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.372+13C>T Single submitter immunodeficiency 31B
c.633+6T>A Single submitter immunodeficiency 31B
c.786-12G>C Single submitter immunodeficiency 31B
p.Arg210Lys Single submitter immunodeficiency 31B ⚠
p.Arg241Gln Single submitter Inborn genetic diseases ⚠
p.Asn515Ser Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Asp447Glu Single submitter immunodeficiency 31B ⚠
p.Asp65Gly Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Gln167= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Gln67= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Gln67Arg Single submitter STAT1-related disorder ⚠
p.Glu284Lys Single submitter Inherited Immunodeficiency Diseases ⚠
p.Ile265Val Single submitter immunodeficiency 31B ⚠
p.Leu477= Single submitter immunodeficiency 31B
p.Met202Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Met390Arg Single submitter immunodeficiency 31B ⚠
p.Met390Val Single submitter Inborn genetic diseases ⚠
p.Phe364Leu Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Pro571= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Ser245= Single submitter immunodeficiency 31B
p.Val266Ile Single submitter immunodeficiency 31B ⚠

Benign 36

c.1038-23A>G Multiple submitters
c.1446+56A>G Multiple submitters
c.1728-103T>C Multiple submitters
c.2136-318G>A Multiple submitters
c.2238+17G>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.634-16C>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.785+184C>T Multiple submitters
c.-1-305G>A Multiple submitters
c.*154T>C Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*535C>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Asn118= Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1038-239G>T Single submitter
c.1038-9dup Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1098-103C>T Single submitter
c.1221+95G>A Single submitter
c.128+285C>A Single submitter
c.1728-4C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1874-128T>C Single submitter
c.2136-8del Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.2239-13dup Single submitter immunodeficiency 31B
c.2239-153A>C Single submitter
c.273+136T>A Single submitter
c.372+98CT[2] Single submitter
c.633+42A>G Single submitter
c.786-285G>A Single submitter
c.944+102_944+105del Single submitter
c.944+132A>T Single submitter
c.-298C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1002T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1060A>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1399A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*364G>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*661T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*777A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*942A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*953G>T Single submitter

Benign/Likely benign 23

c.1097+10C>G Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1098-17A>G Multiple submitters immunodeficiency 31B
c.1098-5dup Multiple submitters immunodeficiency 31B
c.1127+10G>A Multiple submitters immunodeficiency 31B
c.1127+9C>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1222-9G>T Multiple submitters immunodeficiency 31B
c.1263+7G>A Multiple submitters immunodeficiency 31B
c.1347+8T>G Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1727+12C>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1874-8C>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.274-13C>G Multiple submitters immunodeficiency 31B
c.463-8G>C Multiple submitters immunodeficiency 31B
c.634-13C>T Multiple submitters immunodeficiency 31B
p.Asn372= Multiple submitters immunodeficiency 31B
p.Gln275= Multiple submitters immunodeficiency 31B
p.Gln330= Multiple submitters immunodeficiency 31B
p.Gln438= Multiple submitters immunodeficiency 31B
p.Gly624= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu21= Multiple submitters immunodeficiency 31B
p.Lys673= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Thr385= Multiple submitters immunodeficiency 31B
p.Thr419= Multiple submitters immunodeficiency 31B
p.Val712= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Likely benign 308

Showing the top 300 by review status; the full set is in the sitemap.

c.1098-11T>A Multiple submitters immunodeficiency 31B
c.1098-19A>G Multiple submitters immunodeficiency 31B
c.1127+19G>A Multiple submitters immunodeficiency 31B
c.1127+19G>T Multiple submitters immunodeficiency 31B
c.1128-7T>C Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1221+11C>A Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1222-14T>G Multiple submitters immunodeficiency 31B
c.1222-17G>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1264-10C>G Multiple submitters immunodeficiency 31B
c.1446+19C>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1447-8C>G Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1582+7G>A Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1632+15G>T Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1632+9T>C Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1633-13dup Multiple submitters immunodeficiency 31B
c.1728-15C>T Multiple submitters immunodeficiency 31B
c.273+13T>C Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.274-4C>G Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.463-4G>T Multiple submitters immunodeficiency 31B
c.541+7G>T Multiple submitters immunodeficiency 31B
c.945-10G>A Multiple submitters immunodeficiency 31B
p.Ala479= Multiple submitters immunodeficiency 31B
p.Ala630= Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Asn622= Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Asp732= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Glu353= Multiple submitters immunodeficiency 31B
p.Glu411= Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Glu730= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Gly523= Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.His45= Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Leu409= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu569= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu724= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Phe599= Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Phe731= Multiple submitters immunodeficiency 31B
p.Pro251= Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Pro533= Multiple submitters immunodeficiency 31B
p.Ser25= Multiple submitters immunodeficiency 31B
p.Ser466= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Ser62= Multiple submitters immunodeficiency 31B
p.Thr288= Multiple submitters immunodeficiency 31B
c.1037+18G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1037+8G>A Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1097+17A>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1097+20A>G Single submitter immunodeficiency 31B
c.1098-12_1098-11insA Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1098-13A>T Single submitter immunodeficiency 31B
c.1098-13del Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1098-15A>G Single submitter immunodeficiency 31B
c.1098-16T>C Single submitter immunodeficiency 31B
c.1098-18T>C Single submitter immunodeficiency 31B
c.1098-19AT[2] Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1098-19dup Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1098-5del Single submitter immunodeficiency 31B
c.1127+13C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1127+13C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1127+16T>C Single submitter immunodeficiency 31B
c.1127+18C>T Single submitter immunodeficiency 31B
c.1128-11A>G Single submitter
c.1128-4A>G Single submitter immunodeficiency 31B
c.1128-8T>C Single submitter immunodeficiency 31B
c.1128-9A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1221+13G>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1221+14T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1221+18C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1221+9A>G Single submitter immunodeficiency 31B
c.1222-13A>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1222-19A>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1222-20G>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1222-8T>C Single submitter immunodeficiency 31B
c.1263+11C>T Single submitter immunodeficiency 31B
c.1263+15_1263+18del Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1263+20G>T Single submitter immunodeficiency 31B
c.1263+8T>C Single submitter
c.1264-10C>A Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1264-20_1264-18del Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1264-4C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1264-4del Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1264-5C>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.128+13C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.128+17A>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.128+20C>T Single submitter immunodeficiency 31B
c.128+9A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.129-15T>C Single submitter immunodeficiency 31B
c.129-5_129-3del Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.129-5C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1347+10T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1347+15G>T Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1347+19C>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1347+19C>T Single submitter immunodeficiency 31B
c.1347+8T>C Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1348-19G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1446+15T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1447-13G>A Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1447-4C>T Single submitter immunodeficiency 31B
c.1447-6C>T Single submitter immunodeficiency 31B
c.1582+12T>C Single submitter immunodeficiency 31B
c.1582+15A>G Single submitter immunodeficiency 31B
c.1582+19_1582+21del Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1582+6T>G Single submitter immunodeficiency 31B
c.1582+9A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1583-16G>A Single submitter immunodeficiency 31B
c.1583-16G>T Single submitter immunodeficiency 31B
c.1583-6G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1632+10G>A Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1632+10G>T Single submitter immunodeficiency 31B
c.1632+14G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1632+19T>C Single submitter immunodeficiency 31B
c.1632+7A>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1633-10A>G Single submitter immunodeficiency 31B
c.1727+10A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1728-10C>T Single submitter immunodeficiency 31B
c.1728-14T>C Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1728-17A>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1728-6A>G Single submitter immunodeficiency 31B
c.1728-9G>A Single submitter immunodeficiency 31B
c.1873+11G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1873+15G>T Single submitter immunodeficiency 31B
c.1873+7G>A Single submitter immunodeficiency 31B
c.1874-11C>A Single submitter immunodeficiency 31B
c.1874-11C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.2059+15C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.2059+18G>A Single submitter immunodeficiency 31B
c.2059+18G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.2059+8G>A Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.2059+9G>C Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.2060-11T>C Single submitter immunodeficiency 31B
c.2136-15T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.2136-4T>G Single submitter immunodeficiency 31B
c.2136-7A>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.2238+11C>T Single submitter immunodeficiency 31B
c.2238+12G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.2238+18C>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.2238+18C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.2238+19C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.2238+81G>A Single submitter
c.2238+8C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.2239-16T>C Single submitter immunodeficiency 31B
c.2239-18C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.2239-20C>T Single submitter immunodeficiency 31B
c.2239-7T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.273+19A>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.273+9T>A Single submitter
c.274-12A>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.274-9C>G Single submitter immunodeficiency 31B
c.372+12del Single submitter immunodeficiency 31B
c.372+15T>C Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.372+18A>G Single submitter immunodeficiency 31B
c.373-7A>G Single submitter immunodeficiency 31B
c.373-8dup Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.462+18A>G Single submitter immunodeficiency 31B
c.462+8T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.463-11T>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.463-14A>G Single submitter immunodeficiency 31B
c.463-15C>T Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.463-6_463-3del Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.463-9T>G Single submitter immunodeficiency 31B
c.541+12C>A Single submitter immunodeficiency 31B
c.541+15C>T Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.541+16T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.542-10C>T Single submitter immunodeficiency 31B
c.542-7T>C Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.633+17C>T Single submitter immunodeficiency 31B
c.633+18A>G Single submitter immunodeficiency 31B
c.633+19G>A Single submitter immunodeficiency 31B
c.634-11A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.634-20G>A Single submitter immunodeficiency 31B
c.634-24_634-18del Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.785+14A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.785+6_785+7insAC Single submitter immunodeficiency 31B
c.786-12G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.786-13T>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.786-15C>T Single submitter immunodeficiency 31B
c.786-20T>C Single submitter immunodeficiency 31B
c.944+11G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.944+7C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.944+9A>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.945-11G>T Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.945-15G>C Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.945-17T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.945-20C>A Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.-1-4A>G Single submitter
c.*304A>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*428G>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Ala125= Single submitter immunodeficiency 31B
p.Ala230= Single submitter
p.Ala267= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Ala401= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Ala46= Single submitter immunodeficiency 31B
p.Ala53= Single submitter immunodeficiency 31B
p.Ala531= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Ala655= Single submitter immunodeficiency 31B
p.Arg619= Single submitter immunodeficiency 31B
p.Asn148= Single submitter immunodeficiency 31B
p.Asn414= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Asn483= Single submitter
p.Asn530= Single submitter immunodeficiency 31B
p.Asn546= Single submitter immunodeficiency 31B
p.Asn722= Single submitter immunodeficiency 31B
p.Asp11= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Asp168= Single submitter immunodeficiency 31B
p.Asp171= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Asp24= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Asp257= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Asp575= Single submitter
p.Asp59= Single submitter
p.Cys255= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Cys324= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Cys440= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Gln17= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Gln228= Single submitter immunodeficiency 31B
p.Gln276= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Gln285= Single submitter immunodeficiency 31B
p.Gln32= Single submitter
p.Gln441= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Gln63= Single submitter immunodeficiency 31B
p.Gln63Arg Single submitter immunodeficiency 31B
p.Glu268= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Glu290= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Glu403= Single submitter
p.Glu587= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Glu609= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Glu618= Single submitter immunodeficiency 31B
p.Gly338= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Gly384= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Gly467= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Gly597= Single submitter immunodeficiency 31B
p.Gly610= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Gly678= Single submitter immunodeficiency 31B
p.Gly739= Single submitter immunodeficiency 31B
p.His713= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Ile248= Single submitter immunodeficiency 31B
p.Ile294= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Ile425= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Leu136= Single submitter immunodeficiency 31B
p.Leu142= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu221= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu231= Single submitter immunodeficiency 31B
p.Leu270= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu333= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Leu354= Single submitter immunodeficiency 31B
p.Leu424= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu439= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu448= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu464= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu502= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu562= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu564= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Leu600= Single submitter immunodeficiency 31B
p.Leu664= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu79= Single submitter immunodeficiency 31B
p.Lys140= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Lys145= Single submitter immunodeficiency 31B
p.Lys152= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Lys193= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Lys240= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Lys279= Single submitter immunodeficiency 31B
p.Lys286= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Lys296= Single submitter immunodeficiency 31B
p.Lys350= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Lys379= Single submitter immunodeficiency 31B
p.Lys40= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Lys566= Single submitter immunodeficiency 31B
p.Lys637= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Phe486= Single submitter
p.Phe743= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Pro323= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Pro329= Single submitter immunodeficiency 31B
p.Pro332= Single submitter immunodeficiency 31B
p.Pro454= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Pro465= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Pro538= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Pro596= Single submitter immunodeficiency 31B
p.Pro633= Single submitter immunodeficiency 31B
p.Pro663= Single submitter immunodeficiency 31B
p.Pro684= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Pro725= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Ser144= Single submitter
p.Ser316= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Ser508= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Ser583= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Ser715= Single submitter
p.Ser745= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Thr264= Single submitter immunodeficiency 31B
p.Thr305= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Thr327= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Thr337= Single submitter immunodeficiency 31B
p.Thr373= Single submitter immunodeficiency 31B
p.Thr387= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Thr427= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Thr437= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Thr54= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Thr598= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Thr613= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Thr615= Single submitter immunodeficiency 31B
p.Thr635= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Thr720= Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Tyr106= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Tyr287= Single submitter immunodeficiency 31B
p.Tyr289= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Uncertain significance 268

c.1222-3T>C Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.2059+5G>A Multiple submitters immunodeficiency 31B
c.944+4A>G Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Ala589Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala589Thr Multiple submitters immunodeficiency 31B ⚠
p.Arg331Lys Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Arg586Gln Multiple submitters immunodeficiency 31B ⚠
p.Arg619Gln Multiple submitters immunodeficiency 31B ⚠
p.Asn179Ser Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Asp143Glu Multiple submitters immunodeficiency 31B ⚠
p.Asp744Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys155Arg Multiple submitters immunodeficiency 31B ⚠
p.Glu500Lys Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Ile160Leu Multiple submitters immunodeficiency 31B ⚠
p.Ile446Val Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Ile582Val Multiple submitters immunodeficiency 31B ⚠
p.Ile671Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu199Pro Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Lys592Thr Multiple submitters immunodeficiency 31B
p.Met746Val Multiple submitters immunodeficiency 31B ⚠
p.Pro538Leu Multiple submitters immunodeficiency 31B ⚠
p.Pro696His Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Thr224Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr373Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr419Arg Multiple submitters immunodeficiency 31B ⚠
p.Thr450Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr450Met Multiple submitters immunodeficiency 31B ⚠
p.Val134Leu Multiple submitters immunodeficiency 31B ⚠
p.Val426Ile Multiple submitters autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Val455Ile Multiple submitters immunodeficiency 31B ⚠
c.1097+3A>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1097+6A>G Single submitter immunodeficiency 31B
c.1127+3A>G Single submitter immunodeficiency 31B
c.1128-3T>G Single submitter immunodeficiency 31B
c.1221+6G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1263+4A>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1264-3A>G Single submitter
c.1347+16T>A Single submitter
c.1347+3A>G Single submitter immunodeficiency 31B
c.1447-6C>G Single submitter
c.1582+3A>G Single submitter
c.1582+54C>A Single submitter
c.1632+5G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.1632+6del Single submitter immunodeficiency 31B
c.1633-15T>A Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1727+6G>A Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.1727+6G>C Single submitter immunodeficiency 31B
c.1874-3T>C Single submitter immunodeficiency 31B
c.2059+6_2059+7del Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.2060-15T>C Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.2136-19T>A Single submitter
c.2238+6T>C Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.2239-16T>G Single submitter immunodeficiency 31B
c.273+6A>T Single submitter immunodeficiency 31B
c.274-3T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.274-6A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.373-10C>G Single submitter immunodeficiency 31B
c.462+8_462+14del Single submitter
c.463-6T>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.541+3A>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.541+4A>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.541+6G>C Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.542-3T>C Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.785+3A>G Single submitter
c.945-5T>G Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
c.-293C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1012A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1066C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1094G>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1154C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1163T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1175A>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1187C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*121C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1260A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1298A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1317G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*137T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1473C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1482A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1514A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*1628A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*281C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*362T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*363A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*461G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*645T>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*670T>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*855G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*921G>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*932A>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
c.*959G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Ala119Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Ala246Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Ala401Glu Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Ala531Thr Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Ala589Pro Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Ala656Val Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Ala676Ser Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Ala687Pro Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Arg147Lys Single submitter ⚠
p.Arg331Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Arg346Ser Single submitter immunodeficiency 31B ⚠
p.Arg371del Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Arg56His Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Arg586Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Arg608Trp Single submitter immunodeficiency 31B ⚠
p.Arg649His Single submitter ⚠
p.Arg70Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Arg70Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Arg736Trp Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Arg88His Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Asn123Ser Single submitter immunodeficiency 31B ⚠
p.Asn179del Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Asn185Ser Single submitter immunodeficiency 31B ⚠
p.Asn208Ser Single submitter immunodeficiency 31B ⚠
p.Asn253Asp Single submitter Inborn genetic diseases ⚠
p.Asn253Ser Single submitter immunodeficiency 31B ⚠
p.Asn297Asp Single submitter Inborn genetic diseases ⚠
p.Asn357Asp Single submitter immunodeficiency 31B
p.Asn369Ser Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Asn372Ser Single submitter immunodeficiency 31B ⚠
p.Asn381= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Asn460= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Asn460Asp Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Asn48Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Asn548Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Asn650Ser Single submitter immunodeficiency 31B ⚠
p.Asn658Lys Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Asn670Ser Single submitter immunodeficiency 31B ⚠
p.Asn82Lys Single submitter immunodeficiency 31B ⚠
p.Asp11Glu Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Asp23Val Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Asp65Asn Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Asp672Glu Single submitter immunodeficiency 31B ⚠
p.Asp92Glu Single submitter ⚠
p.Cys247Tyr Single submitter Inborn genetic diseases ⚠
p.Cys543Trp Single submitter immunodeficiency 31B ⚠
p.Gln120Glu Single submitter immunodeficiency 31B ⚠
p.Gln126His Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Gln167His Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Gln167Pro Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Gln178Arg Single submitter immunodeficiency 31B ⚠
p.Gln20_Asp24del Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Gln258Leu Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Gln299del Single submitter STAT1-related disorder
p.Gln330Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Gln408= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Gln594His Single submitter immunodeficiency 31B ⚠
p.Gln67Lys Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Glu164_Leu166del Single submitter immunodeficiency 31B
p.Glu169Val Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Glu16Gln Single submitter immunodeficiency 31B ⚠
p.Glu212Gln Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Glu238= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Glu290Lys Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Glu29Ala Single submitter immunodeficiency 31B ⚠
p.Glu393Gly Single submitter ⚠
p.Glu44Asp Single submitter immunodeficiency 31B ⚠
p.Glu559Gln Single submitter immunodeficiency 31B ⚠
p.Glu563Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Glu563Gly Single submitter immunodeficiency 31B ⚠
p.Glu625Asp Single submitter Inborn genetic diseases ⚠
p.Glu632Gln Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Glu6Asp Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Glu6Lys Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Glu730Asp Single submitter Inborn genetic diseases ⚠
p.Gly384Val Single submitter immunodeficiency 31B ⚠
p.Gly416= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Gly467Ser Single submitter immunodeficiency 31B ⚠
p.Gly580Asp Single submitter ⚠
p.Gly580Cys Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Gly580Ser Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Gly623Arg Single submitter immunodeficiency 31B ⚠
p.His291Tyr Single submitter immunodeficiency 31B ⚠
p.His58Tyr Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.His629Leu Single submitter immunodeficiency 31B ⚠
p.Ile130Thr Single submitter immunodeficiency 31B ⚠
p.Ile156Met Single submitter immunodeficiency 31B ⚠
p.Ile156Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Ile248Thr Single submitter immunodeficiency 31B ⚠
p.Ile30Val Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Ile313Val Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Ile561= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Ile648Val Single submitter immunodeficiency 31B ⚠
p.Ile659Thr Single submitter immunodeficiency 31B ⚠
p.Ile671Val Single submitter immunodeficiency 31B ⚠
p.Ile99Val Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Leu166_Asp168del Single submitter immunodeficiency 31B
p.Leu199Phe Single submitter immunodeficiency 31B ⚠
p.Leu221Gln Single submitter Inborn genetic diseases ⚠
p.Leu259Pro Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Leu283Met Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Leu312Phe Single submitter immunodeficiency 31B ⚠
p.Leu351Trp Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Leu358Ser Single submitter immunodeficiency 31B ⚠
p.Leu383Val Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Leu407Arg Single submitter immunodeficiency 31B ⚠
p.Leu433Val Single submitter immunodeficiency 31B ⚠
p.Leu484Pro Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Leu488Pro Single submitter Inborn genetic diseases ⚠
p.Leu514Phe Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Leu527= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu570Phe Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Leu60Phe Single submitter immunodeficiency 31B
p.Leu667_Tyr668insLysTyrLeu Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Leu706= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Leu79Val Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Leu90Val Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Lys13Arg Single submitter immunodeficiency 31B ⚠
p.Lys145Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Lys286Glu Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Lys336Met Single submitter Inborn genetic diseases ⚠
p.Lys375Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Met154Ile Single submitter immunodeficiency 31B ⚠
p.Met154Thr Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Met325Thr Single submitter ⚠
p.Met390Ile Single submitter immunodeficiency 31B ⚠
p.Met390Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Phe14Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Pro293_Asn297del Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Pro293Ala Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Pro293Leu Single submitter immunodeficiency 31B ⚠
p.Pro293Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Pro326Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Pro332Leu Single submitter ⚠
p.Pro423Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Pro465Arg Single submitter ⚠
p.Pro481Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Pro490Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Pro553Ser Single submitter immunodeficiency 31B ⚠
p.Pro596Leu Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Pro725Leu Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Ser127Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Ser432Phe Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Ser462Arg Single submitter immunodeficiency 31B ⚠
p.Ser503Asn Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Ser503Thr Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Ser532Gly Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Ser606Asn Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Ser715Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Thr264Ile Single submitter ⚠
p.Thr305Ser Single submitter immunodeficiency 31B ⚠
p.Thr342Pro Single submitter ⚠
p.Thr387Pro Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Thr417= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Thr427Asn Single submitter immunodeficiency 31B ⚠
p.Thr451Ser Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
p.Thr540Met Single submitter immunodeficiency 31B ⚠
p.Thr635Met Single submitter Inborn genetic diseases ⚠
p.Trp262Cys Single submitter immunodeficiency 31B ⚠
p.Tyr356Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Tyr474= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
p.Tyr668Phe Single submitter immunodeficiency 31B ⚠
p.Tyr68Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Tyr701Asn Single submitter immunodeficiency 31B ⚠
p.Val300Leu Single submitter immunodeficiency 31B ⚠
p.Val319Met Single submitter immunodeficiency 31B ⚠
p.Val360Phe Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ⚠
p.Val445Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Val455Phe Single submitter immunodeficiency 31B ⚠
p.Val461Ile Single submitter Inborn genetic diseases ⚠
p.Val501Leu Single submitter immunodeficiency 31B ⚠
p.Val617Met Single submitter Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ⚠
p.Val709Gly Single submitter Inborn genetic diseases ⚠
p.Val712Ile Single submitter immunodeficiency 31B ⚠
p.Val734fs Single submitter immunodeficiency 31B
p.Val750fs Single submitter autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome