Sugi Variant

Sugi Variant/STK4

STK4 — 301 ClinVar variants

All ClinVar germline STK4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →

12 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 5 Conflicting · 9 Benign · 10 Benign/Likely benign · 125 Likely benign · 133 Uncertain significance

Full STK4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 120

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

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 89

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

Predictors split 29

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

All STK4 variants

Pathogenic 12

  • p.Arg117Ter Multiple submitters Inherited Immunodeficiency Diseases
  • p.Arg148Ter Multiple submitters combined immunodeficiency due to STK4 deficiency
  • p.Arg291Ter Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Arg332Ter Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Asp31fs Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Gln308Ter Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Glu125Ter Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Glu322Ter Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Gly379fs Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Met368fs Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Trp250Ter Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Trp99Ter Single submitter combined immunodeficiency due to STK4 deficiency

Pathogenic/Likely pathogenic 2

  • p.Arg115Ter Multiple submitters STK4-related disorder
  • p.Arg245Ter Multiple submitters combined immunodeficiency due to STK4 deficiency

Likely pathogenic 5

  • c.36-1G>A Single submitter combined immunodeficiency due to STK4 deficiency
  • c.831+2T>C Single submitter severe combined immunodeficiency
  • c.961-2A>G Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Lys259Ter Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Ser132Ter Single submitter severe combined immunodeficiency

Conflicting classifications of pathogenicity 5

  • p.Arg332Gln Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Asp97Glu Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.His162Asn Single submitter STK4-related disorder ⚠
  • p.Ser82= Single submitter Inborn genetic diseases
  • p.Thr353Ala Single submitter combined immunodeficiency due to STK4 deficiency ⚠

Benign 9

Benign/Likely benign 10

  • c.116+20A>G Multiple submitters combined immunodeficiency due to STK4 deficiency
  • c.246-12C>T Multiple submitters combined immunodeficiency due to STK4 deficiency
  • c.36-12C>G Multiple submitters combined immunodeficiency due to STK4 deficiency
  • c.525+14T>C Multiple submitters combined immunodeficiency due to STK4 deficiency
  • c.526-9C>G Multiple submitters combined immunodeficiency due to STK4 deficiency
  • c.-2C>G Multiple submitters
  • p.Asn253Ser Multiple submitters Inborn genetic diseases
  • p.Leu448= Multiple submitters combined immunodeficiency due to STK4 deficiency
  • p.Pro416Leu Multiple submitters combined immunodeficiency due to STK4 deficiency
  • p.Val312Met Multiple submitters combined immunodeficiency due to STK4 deficiency

Likely benign 125

  • c.246-15TC[7] Multiple submitters combined immunodeficiency due to STK4 deficiency
  • c.36-4A>G Multiple submitters combined immunodeficiency due to STK4 deficiency
  • c.360+16A>G Multiple submitters combined immunodeficiency due to STK4 deficiency
  • c.526-7A>G Multiple submitters combined immunodeficiency due to STK4 deficiency
  • c.831+18A>G Multiple submitters combined immunodeficiency due to STK4 deficiency
  • c.960+13C>T Multiple submitters combined immunodeficiency due to STK4 deficiency
  • c.960+14G>A Multiple submitters combined immunodeficiency due to STK4 deficiency
  • p.Glu400= Multiple submitters combined immunodeficiency due to STK4 deficiency
  • p.Glu458= Multiple submitters combined immunodeficiency due to STK4 deficiency
  • p.His357= Multiple submitters combined immunodeficiency due to STK4 deficiency
  • p.Pro428= Multiple submitters combined immunodeficiency due to STK4 deficiency
  • p.Ser43= Multiple submitters combined immunodeficiency due to STK4 deficiency
  • p.Thr96= Multiple submitters combined immunodeficiency due to STK4 deficiency
  • c.1147+18T>C Single submitter combined immunodeficiency due to STK4 deficiency
  • c.1148-13T>C Single submitter combined immunodeficiency due to STK4 deficiency
  • c.1148-18A>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.1148-7T>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.1148-8G>A Single submitter combined immunodeficiency due to STK4 deficiency
  • c.116+10A>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.117-7T>C Single submitter combined immunodeficiency due to STK4 deficiency
  • c.1305+10G>A Single submitter combined immunodeficiency due to STK4 deficiency
  • c.1305+18del Single submitter combined immunodeficiency due to STK4 deficiency
  • c.1305+9T>A Single submitter combined immunodeficiency due to STK4 deficiency
  • c.1306-13A>C Single submitter
  • c.1306-18del Single submitter combined immunodeficiency due to STK4 deficiency
  • c.1306-6T>C Single submitter combined immunodeficiency due to STK4 deficiency
  • c.245+10T>A Single submitter combined immunodeficiency due to STK4 deficiency
  • c.245+17T>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.246-10C>T Single submitter combined immunodeficiency due to STK4 deficiency
  • c.246-12C>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.246-15TC[4] Single submitter combined immunodeficiency due to STK4 deficiency
  • c.246-19A>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.246-4C>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.246-4C>T Single submitter combined immunodeficiency due to STK4 deficiency
  • c.35+8_35+9delinsTT Single submitter combined immunodeficiency due to STK4 deficiency
  • c.35+8G>A Single submitter combined immunodeficiency due to STK4 deficiency
  • c.35+8G>T Single submitter combined immunodeficiency due to STK4 deficiency
  • c.36-18A>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.36-19T>C Single submitter combined immunodeficiency due to STK4 deficiency
  • c.361-14T>A Single submitter combined immunodeficiency due to STK4 deficiency
  • c.361-15T>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.361-16C>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.361-5T>C Single submitter combined immunodeficiency due to STK4 deficiency
  • c.525+16_525+19del Single submitter combined immunodeficiency due to STK4 deficiency
  • c.525+16A>C Single submitter combined immunodeficiency due to STK4 deficiency
  • c.525+18T>A Single submitter combined immunodeficiency due to STK4 deficiency
  • c.526-13C>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.526-15C>A Single submitter combined immunodeficiency due to STK4 deficiency
  • c.526-17C>T Single submitter combined immunodeficiency due to STK4 deficiency
  • c.526-7A>C Single submitter combined immunodeficiency due to STK4 deficiency
  • c.693+11G>A Single submitter combined immunodeficiency due to STK4 deficiency
  • c.693+14C>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.831+19T>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.832-15A>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.832-5T>A Single submitter combined immunodeficiency due to STK4 deficiency
  • c.961-12A>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.961-12A>T Single submitter combined immunodeficiency due to STK4 deficiency
  • c.961-17A>C Single submitter combined immunodeficiency due to STK4 deficiency
  • c.961-18G>C Single submitter combined immunodeficiency due to STK4 deficiency
  • c.961-18G>T Single submitter combined immunodeficiency due to STK4 deficiency
  • c.961-5T>C Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Ala214= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Ala218= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Ala391= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Arg117Gln Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Arg342= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Arg384= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Arg447= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Arg463= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Arg483= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Asn118= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Asp176= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Asp18= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Asp315= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Asp359= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Asp424= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Asp432= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Asp475= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Gln173= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Gln364= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Gln401= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Gln457= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Glu267= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Glu403= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Glu456= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Glu460= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Glu51= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Gly169= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Gly200= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Gly335= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Gly350= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Gly379Arg Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Gly53= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.His278= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Ile100= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Ile155= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Ile459= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Leu140= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Leu276= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Leu361= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Lys15= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Lys481= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Lys59= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Met368Val Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Pro222= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Pro26= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Pro279= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Pro362= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Pro390= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Ser109= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Ser111= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Ser40= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Ser423= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Thr122= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Thr177= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Thr183= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Thr329= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Thr360= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Thr367= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Thr52= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Tyr433= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Tyr88= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Tyr92= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Val204= Single submitter combined immunodeficiency due to STK4 deficiency
  • c.694-26TTTG[3] No assertion criteria STK4-related disorder

Uncertain significance 133

  • p.Ala391Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala479Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg310Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg310Pro Multiple submitters combined immunodeficiency due to STK4 deficiency ⚠
  • p.Arg342Gln Multiple submitters combined immunodeficiency due to STK4 deficiency ⚠
  • p.Arg463Gln Multiple submitters combined immunodeficiency due to STK4 deficiency ⚠
  • p.Arg483Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn158Ser Multiple submitters combined immunodeficiency due to STK4 deficiency ⚠
  • p.Asp124Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp349Asn Multiple submitters combined immunodeficiency due to STK4 deficiency ⚠
  • p.Asp358Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Gln314Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Glu434Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu456Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly335Asp Multiple submitters combined immunodeficiency due to STK4 deficiency ⚠
  • p.Ile129Met Multiple submitters combined immunodeficiency due to STK4 deficiency ⚠
  • p.Ile207Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile477Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Leu275Val Multiple submitters combined immunodeficiency due to STK4 deficiency ⚠
  • p.Lys221Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Met381Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro266Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro418Ser Multiple submitters ⚠
  • p.Ser132Ala Multiple submitters combined immunodeficiency due to STK4 deficiency ⚠
  • p.Thr120Met Multiple submitters Inborn genetic diseases
  • p.Thr133Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr238Arg Multiple submitters combined immunodeficiency due to STK4 deficiency ⚠
  • c.117-13C>G Single submitter
  • c.1305+1G>A Single submitter combined immunodeficiency due to STK4 deficiency
  • c.1306-1G>C Single submitter
  • c.245+11G>A Single submitter
  • c.35+15_35+16del Single submitter combined immunodeficiency due to STK4 deficiency
  • c.35+6G>A Single submitter combined immunodeficiency due to STK4 deficiency
  • c.36-3C>T Single submitter combined immunodeficiency due to STK4 deficiency
  • c.360+5G>C Single submitter combined immunodeficiency due to STK4 deficiency
  • c.694-4C>G Single submitter combined immunodeficiency due to STK4 deficiency
  • c.960+5G>A Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Ala225Val Single submitter Inborn genetic diseases ⚠
  • p.Ala344Val Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Ala372Pro Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Ala476Val Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Arg231= Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Arg282Ile Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Arg291Gln Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Arg304Cys Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Arg332Leu Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Arg463Trp Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Arg470Gln Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Arg470Trp Single submitter Inborn genetic diseases ⚠
  • p.Asn295Ser Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Asn319Asp Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Asp124Tyr Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Asp316Asn Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Asp316Tyr Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Asp358Gly Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Asp359Glu Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Asp430Val Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Asp432His Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Gln13Pro Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Gln173Leu Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Gln268His Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Gln407Arg Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Gln429Arg Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Gln457Lys Single submitter ⚠
  • p.Gln457Ter Single submitter
  • p.Gln485_Asn486delinsHisTyr Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Glu138Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu198Gln Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Glu324Asp Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Glu356Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu373Ala Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Glu377_Glu378dup Single submitter combined immunodeficiency due to STK4 deficiency
  • p.Glu403Lys Single submitter STK4-related disorder ⚠
  • p.Glu461Asp Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Glu73Gly Single submitter Inborn genetic diseases ⚠
  • p.Gly186Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly200Glu Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Gly328Ser Single submitter ⚠
  • p.Gly417Asp Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Gly53Asp Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Gly53Ser Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.His84Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile113Thr Single submitter ⚠
  • p.Ile114Val Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Ile196Val Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Ile408Thr Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Ile58Val Single submitter Inborn genetic diseases ⚠
  • p.Ile74Asn Single submitter Inborn genetic diseases ⚠
  • p.Leu36Pro Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Leu436Val Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Leu451Pro Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Lys119Asn Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Lys119Thr Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Lys16Arg Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Lys221Arg Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Lys303Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys87Arg Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Met102Thr Single submitter Inborn genetic diseases ⚠
  • p.Met143Leu Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Met217Val Single submitter Inborn genetic diseases ⚠
  • p.Met235Val Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Met298Thr Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Met354Ile Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Met368Arg Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Met368Ile Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Met381Val Single submitter Inborn genetic diseases ⚠
  • p.Met388Val Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Met455Thr Single submitter Inborn genetic diseases ⚠
  • p.Phe142Leu Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Pro10Leu Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Pro188Leu Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Pro223Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro241Leu Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Pro241Ser Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Pro247Ser Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Pro266Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr120Ala Single submitter
  • p.Thr175Ile Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Thr23Ile Single submitter ⚠
  • p.Thr271Ile Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Thr273Ile Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Thr329Met Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Thr360Met Single submitter Inborn genetic diseases ⚠
  • p.Thr52Ile Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Thr96Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr96Pro Single submitter Inborn genetic diseases ⚠
  • p.Tyr104Ser Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Val101Ala Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Val101Ile Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Val101Leu Single submitter ⚠
  • p.Val258Met Single submitter combined immunodeficiency due to STK4 deficiency ⚠
  • p.Val287Leu Single submitter ⚠
  • p.Val44Ile Single submitter ⚠