Sugi Variant

Sugi Variant/FOXP3

FOXP3 — 456 ClinVar variants

All ClinVar germline FOXP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 180 flagged for review →

30 Pathogenic · 5 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 32 Conflicting · 32 Benign · 19 Benign/Likely benign · 130 Likely benign · 185 Uncertain significance

Full FOXP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 180

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 22

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

Predictors lean, ClinVar uncertain 127

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

Predictors split 30

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

All FOXP3 variants

Pathogenic 30

  • p.Arg397Trp Multiple submitters FOXP3-related disorder
  • p.Glu251del Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ile363Val Multiple submitters FOXP3-related disorder
  • c.210+1G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.210+1G>C Single submitter
  • c.210+1G>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.736-2A>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.816+5G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.816+7G>C Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Arg337Ter Single submitter
  • p.Arg386His Single submitter FOXP3-related disorder
  • p.Arg48Ter Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Asp303fs Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Cys232Gly Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Glu237fs Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Glu243fs Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Glu412fs Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Gly43fs Single submitter centronuclear myopathy
  • p.Leu16fs Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Leu76fs Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Met1Lys Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Met256Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Met370Ile Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Phe367Leu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Gln231Lys No assertion criteria Non-obstructive azoospermia
  • p.Met1Ile No assertion criteria immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Phe371Cys No assertion criteria immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Phe373Ala No assertion criteria immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Pro431fs No assertion criteria immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ter432ThrextTer? No assertion criteria immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Pathogenic/Likely pathogenic 5

  • p.Ala384Thr Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Arg397Gln Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Lys250del Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Pro339Ala Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Val408Met Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Likely pathogenic 23

  • c.454+4A>G Multiple submitters FOXP3-related disorder
  • c.543-2A>G Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Arg386Cys Multiple submitters
  • p.Met370Val Multiple submitters FOXP3-related disorder ⚠
  • c.315+2T>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.542+2T>G Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.646_647+2del Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.648-2A>G Single submitter multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
  • c.736-1G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.-22-1G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ala145Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ala384Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Cys199Ter Single submitter
  • p.Cys424fs Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Gln240fs Single submitter FOXP3-related disorder
  • p.Ile385Asn Single submitter FOXP3-related disorder
  • p.Leu242Pro Single submitter FOXP3-related disorder
  • p.Phe374del Single submitter hydrops fetalis
  • p.Pro6fs Single submitter FOXP3-related disorder
  • p.Pro75Leu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser390Asn Single submitter FOXP3-related disorder
  • p.Thr359Ile Single submitter
  • p.Gln245= No assertion criteria FOXP3-related disorder

Conflicting classifications of pathogenicity 32

  • c.315+1G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.455-6C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.816+6C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.817-5C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.-23+1G>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ala111Thr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg114Trp Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg299Trp Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg309Gln Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg85Trp Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Asn388Ser Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Cys424Tyr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Gly40Asp Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Gly42Arg Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Gly7Ala Single submitter Inborn genetic diseases ⚠
  • p.His121Tyr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ile282= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Leu118Val Single submitter Inborn genetic diseases ⚠
  • p.Met256Thr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Met328Ile Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Phe324Leu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro133Leu Single submitter type 1 diabetes mellitus ⚠
  • p.Pro429Ser Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser181= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser184Leu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser60del Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser67Leu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Thr108Met Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Thr320Lys Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Thr44Ser Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Tyr364Cys Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Val292Ile Single submitter Inborn genetic diseases ⚠

Benign 32

  • c.211-231A>G Multiple submitters
  • c.211-74G>A Multiple submitters
  • c.648-20G>A Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ala220Val Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1045-10del Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1045-10dup Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1147-12G>C Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.455-205C>A Single submitter
  • c.455-9del Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.543-3dup Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.817-221G>A Single submitter
  • c.968-13del Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.-22-181GT[12] Single submitter
  • c.-22-181GT[15] Single submitter
  • c.-23+146_-23+148dup Single submitter
  • c.-23+148ATA[3] Single submitter
  • c.-23+151_-23+152insAAA Single submitter
  • c.-23+153= Single submitter
  • c.-23+2877= Single submitter
  • c.-23+474C>G Single submitter
  • c.-23+523G>A Single submitter
  • c.-23+575G>A Single submitter
  • c.-23+808dup Single submitter
  • c.-23+943G>A Single submitter
  • c.-78C>T Single submitter
  • p.Arg39Gln Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Asp276Asn Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Glu209Lys Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Gly83= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Phe208= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Pro20Leu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Val291= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Benign/Likely benign 19

  • c.1044+17G>A Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1045-11C>G Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1147-13C>T Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.210+16C>T Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.316-3del Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.648-13T>A Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.735+14G>A Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.736-14G>A Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ala38Ser Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Arg414His Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Asn383= Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Asn426Lys Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Gly52Val Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.His112= Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Leu351= Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Pro165= Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser59Cys Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Thr108= Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Thr407= Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Likely benign 130

  • c.647+19T>G Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.*673G>A Multiple submitters
  • p.Arg397= Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Glu164= Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Glu237= Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Pro211Ala Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser10= Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser184= Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser23= Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser67= Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ter432= Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1044+16C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1045-11C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1045-13C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1045-14C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1045-15_1045-9del Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1045-15C>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1045-15C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1045-17C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1045-20C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1045-6T>C Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1146+16G>C Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1146+16G>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1146+17T>C Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1146+21G>A Single submitter
  • c.1146+8C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.1146+90C>T Single submitter
  • c.210+10T>C Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.211-17C>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.211-20C>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.211-5C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.315+8C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.315+9G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.316-13A>G Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.316-16C>G Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.316-4C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.316-8C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.454+16G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.454+8_454+10del Single submitter
  • c.455-14G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.455-19G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.542+8G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.543-16C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.543-4C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.543-5C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.647+11del Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.647+16C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.647+9C>T Single submitter
  • c.648-15C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.648-5C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.735+13C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.735+17G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.816+11C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.817-10C>G Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.817-11C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.817-12C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.817-9C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.967+13C>G Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.967+19C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.967+9G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.968-12A>G Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.968-17T>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.968-7C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.-23+117G>A Single submitter
  • c.-23+76G>T Single submitter
  • c.-23+801C>T Single submitter
  • p.Ala220= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ala269= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ala269Thr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ala273= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ala28= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ala54= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Arg163= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Arg299Gln Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Arg358= Single submitter
  • p.Arg414Cys Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg48Gln Single submitter
  • p.Asn318= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Asn327= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Asn426Ser Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Asp409= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Cys199= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Cys204Tyr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Gln119= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Gln419= Single submitter
  • p.Glu124= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Glu212Gln Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Gly148= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Gly262= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Gly289= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Gly43= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Gly87= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.His121= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.His222= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Leu106= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Leu224Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Leu233= Single submitter
  • p.Leu234= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Leu35= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Leu360= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Leu69Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Leu76Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Leu96= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Lys263= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Lys416Asn Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Phe373= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Pro202= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Pro211= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Pro339= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Pro354= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Pro65= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Pro66= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser162= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser175= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser254= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser270= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser275= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser304= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser319= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser400= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser418Arg Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser58= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ser82= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Thr136= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Thr170= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Thr344= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Tyr342= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Val140= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Val79= Single submitter
  • c.-28A>G No assertion criteria FOXP3-related disorder

Uncertain significance 185

  • c.1147-12G>A Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.967+3A>T Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ala113Ser Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ala113Thr Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ala137Thr Multiple submitters monogenic diabetes ⚠
  • p.Ala15Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala258Val Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg114Gln Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg358Gln Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Arg369His Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg417Trp Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg51Gln Multiple submitters FOXP3-related disorder ⚠
  • p.Arg85Gln Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg99Ser Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Asn361Ser Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Asn3Lys Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Cys169Arg Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Cys169Tyr Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Glu243Lys Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Gly139Glu Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Gly314Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly53Arg Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Gly83Arg Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.His101Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His326Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu158Gln Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Lys144Glu Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Lys416Ile Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Phe324Val Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Phe333Tyr Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro147Ala Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro165Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Pro165Leu Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro192Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro293Ala Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro75Ser Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser175Asn Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser23Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser275Phe Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser279Phe Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Thr136Ile Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Thr170Ala Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Thr267Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr44Ala Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Val140Leu Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Val161Gly Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Val283Ile Multiple submitters immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • c.210+5G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.315+18G>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.316-3C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.542+5G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.542+6T>C Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.543-3C>T Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.648-3T>C Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.816+11C>A Single submitter
  • c.816+3G>A Single submitter
  • c.967+4A>G Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.967+5G>A Single submitter
  • c.968-7_968-6del Single submitter
  • c.-201C>T Single submitter
  • c.-23+3G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.-23+4A>G Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.-23+5G>A Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • c.-353G>C Single submitter
  • c.*867G>C Single submitter
  • c.*878A>G Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ala220Glu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ala284Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ala301Thr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ala32Ser Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ala32Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ala343Thr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ala372= Single submitter
  • p.Ala379Thr Single submitter
  • p.Ala56Thr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg146Gln Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg178Gly Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg27Lys Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg310Gly Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg310Lys Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg347Cys Single submitter FOXP3-related disorder ⚠
  • p.Arg347Ser Single submitter ⚠
  • p.Arg358Trp Single submitter ⚠
  • p.Arg39Trp Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg417Gln Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg423Lys Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg48Gly Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Arg5Met Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Asn3Ile Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Asp213Tyr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Asp225His Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Asp276His Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Asp303His Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Asp34Glu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Asp98Asn Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Cys281Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln219Lys Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Gln245Glu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Gln419His Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Glu164Asp Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Glu249Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Glu300Lys Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Glu323Lys Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Gly148Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Gly203Arg Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Gly21Arg Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Gly297Ala Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Gly314Asp Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Gly47Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Gly83Glu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.His217Arg Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.His334Arg Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.His365Tyr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.His377Asp Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.His55Arg Single submitter ⚠
  • p.His91Pro Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ile153= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Ile282Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ile346Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Leu149Ile Single submitter ⚠
  • p.Leu167Met Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Leu246Arg Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Leu360Pro Single submitter ⚠
  • p.Leu71Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Lys206del Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Lys227Thr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Lys252Glu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Met238Arg Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Met328Val Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Met336Thr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Phe321Leu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Phe331Ser Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Phe340Leu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Phe373Ser Single submitter ⚠
  • p.Pro126Thr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro134Thr Single submitter ⚠
  • p.Pro151Ser Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro174Arg Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro211Ser Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro24Ser Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro290Leu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro293Ser Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro298_Arg299insValValProAlaTrpSerGlyPro Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Pro298Ala Single submitter ⚠
  • p.Pro427Arg Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro431Ser Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro63Leu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro81Ser Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Pro88Ser Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser125Asn Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser175Arg Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser181Ile Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser23Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser254Asn Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser271Phe Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser271Pro Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser400Arg Single submitter ⚠
  • p.Ser418Asn Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser418Gly Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser418Thr Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser422Arg Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser60Ala Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Ser82Cys Single submitter Inborn genetic diseases ⚠
  • p.Thr132Ile Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Thr135Asn Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Thr267Ala Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Thr267Pro Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Thr344Lys Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Thr344Met Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Thr380Ile Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Thr73Ala Single submitter ⚠
  • p.Trp295Arg Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Trp313Leu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Trp348Cys Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Trp348Gly Single submitter ⚠
  • p.Trp366Cys Single submitter ⚠
  • p.Val161Ala Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Val207Ile Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Val239Ala Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Val247Met Single submitter ⚠
  • p.Val272= Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • p.Val272Met Single submitter Inborn genetic diseases ⚠
  • p.Val283Leu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Val398Leu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠
  • p.Val77Leu Single submitter immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ⚠