Sugi Variant

Sugi Variant/IRF8

IRF8 — 444 ClinVar variants

All ClinVar germline IRF8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 196 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 10 Conflicting · 17 Benign · 6 Benign/Likely benign · 184 Likely benign · 224 Uncertain significance

Full IRF8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 196

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 6

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 140

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

Predictors split 49

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

All IRF8 variants

Pathogenic 1

  • p.Lys108Glu No assertion criteria immunodeficiency 32B

Likely pathogenic 2

  • p.Thr80Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Gly272Arg No assertion criteria esophageal atresia/tracheoesophageal fistula ⚠

Conflicting classifications of pathogenicity 10

Benign 17

Benign/Likely benign 6

  • c.1104+40del Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.602-19G>A Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Phe271= Multiple submitters immunodeficiency 32B
  • p.Phe288= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Phe298= Multiple submitters immunodeficiency 32B
  • p.Val374= Multiple submitters immunodeficiency 32B

Likely benign 184

  • c.1104+39_1104+40del Multiple submitters immunodeficiency 32B
  • c.1105-6A>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.359-4G>A Multiple submitters immunodeficiency 32B
  • c.359-4G>C Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.601+14C>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.988+12C>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Ala387= Multiple submitters immunodeficiency 32B
  • p.Arg276= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Asp196= Multiple submitters immunodeficiency 32B
  • p.Asp343= Multiple submitters immunodeficiency 32B
  • p.Glu275= Multiple submitters immunodeficiency 32B
  • p.Gly139Ser Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Gly386= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.His42= Multiple submitters immunodeficiency 32B
  • p.Ile143= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Leu188= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Leu372= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Leu377= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Pro237= Multiple submitters immunodeficiency 32B
  • p.Pro253= Multiple submitters immunodeficiency 32B
  • p.Pro355= Multiple submitters immunodeficiency 32B
  • p.Pro359= Multiple submitters immunodeficiency 32B
  • p.Pro394= Multiple submitters immunodeficiency 32B
  • p.Pro397= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Ser104= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Ser260= Multiple submitters Inborn genetic diseases
  • p.Thr96= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Thr96Met Multiple submitters immunodeficiency 32B
  • p.Tyr242His Multiple submitters immunodeficiency 32B
  • p.Val124Met Multiple submitters immunodeficiency 32B
  • c.1104+10G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.1104+10G>C Single submitter immunodeficiency 32B
  • c.1104+12C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.1104+27_1104+40del Single submitter immunodeficiency 32B
  • c.1104+29_1104+40del Single submitter immunodeficiency 32B
  • c.1104+32_1104+40dup Single submitter
  • c.1104+33_1104+40del Single submitter
  • c.1104+33_1104+40dup Single submitter
  • c.1104+34_1104+40del Single submitter
  • c.1104+34_1104+40dup Single submitter
  • c.1104+35_1104+40del Single submitter
  • c.1104+35_1104+40dup Single submitter
  • c.1104+36_1104+40del Single submitter
  • c.1104+36_1104+40dup Single submitter
  • c.1104+37_1104+40dup Single submitter
  • c.1104+38_1104+40del Single submitter
  • c.1104+38_1104+40dup Single submitter
  • c.1104+39_1104+40dup Single submitter
  • c.1104+40dup Single submitter
  • c.1104+7dup Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.1104+8T>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.1105-12C>T Single submitter immunodeficiency 32B
  • c.1105-16T>C Single submitter immunodeficiency 32B
  • c.1105-4C>G Single submitter immunodeficiency 32B
  • c.1105-6A>G Single submitter immunodeficiency 32B
  • c.174+10C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.174+16C>T Single submitter immunodeficiency 32B
  • c.174+18C>T Single submitter immunodeficiency 32B
  • c.175-14G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.175-8T>C Single submitter immunodeficiency 32B
  • c.358+10C>T Single submitter immunodeficiency 32B
  • c.358+16G>C Single submitter immunodeficiency 32B
  • c.358+18G>A Single submitter immunodeficiency 32B
  • c.358+7A>T Single submitter immunodeficiency 32B
  • c.358+9C>T Single submitter immunodeficiency 32B
  • c.359-15_359-12del Single submitter
  • c.359-16G>A Single submitter immunodeficiency 32B
  • c.359-6C>T Single submitter immunodeficiency 32B
  • c.359-7T>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.447+10G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.447+13A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.448-12C>G Single submitter immunodeficiency 32B
  • c.553+10G>A Single submitter immunodeficiency 32B
  • c.553+14G>T Single submitter immunodeficiency 32B
  • c.553+16_553+26del Single submitter immunodeficiency 32B
  • c.553+16C>G Single submitter immunodeficiency 32B
  • c.553+18A>G Single submitter immunodeficiency 32B
  • c.554-11T>C Single submitter immunodeficiency 32B
  • c.554-14T>C Single submitter immunodeficiency 32B
  • c.554-15C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.554-16T>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.554-5T>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.554-6C>T Single submitter immunodeficiency 32B
  • c.554-9C>T Single submitter immunodeficiency 32B
  • c.601+10G>A Single submitter immunodeficiency 32B
  • c.601+11G>C Single submitter immunodeficiency 32B
  • c.601+14C>G Single submitter immunodeficiency 32B
  • c.601+15G>A Single submitter immunodeficiency 32B
  • c.601+18C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.602-11C>T Single submitter immunodeficiency 32B
  • c.602-20C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.988+12C>A Single submitter immunodeficiency 32B
  • c.988+13G>A Single submitter immunodeficiency 32B
  • c.988+9C>A Single submitter immunodeficiency 32B
  • c.988+9C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.989-17T>G Single submitter immunodeficiency 32B
  • c.989-8C>T Single submitter immunodeficiency 32B
  • c.-1-1639C>T Single submitter
  • c.*3G>A Single submitter
  • p.Ala127= Single submitter immunodeficiency 32B
  • p.Ala179= Single submitter immunodeficiency 32B
  • p.Ala197= Single submitter immunodeficiency 32B
  • p.Ala201= Single submitter immunodeficiency 32B
  • p.Ala255= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Ala303= Single submitter immunodeficiency 32B
  • p.Ala358= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Ala43= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Arg161= Single submitter immunodeficiency 32B
  • p.Arg170= Single submitter immunodeficiency 32B
  • p.Arg291= Single submitter immunodeficiency 32B
  • p.Arg296= Single submitter immunodeficiency 32B
  • p.Arg309= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Arg340= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Asn30= Single submitter
  • p.Asn302= Single submitter immunodeficiency 32B
  • p.Asn336= Single submitter immunodeficiency 32B
  • p.Asn87= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Asp153= Single submitter immunodeficiency 32B
  • p.Asp256= Single submitter
  • p.Asp323= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Asp356= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Asp400= Single submitter immunodeficiency 32B
  • p.Cys2= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Cys349= Single submitter immunodeficiency 32B
  • p.Gln12= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Gln17= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Gln422= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Gln423= Single submitter immunodeficiency 32B
  • p.Glu105= Single submitter immunodeficiency 32B
  • p.Glu145= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Glu29= Single submitter immunodeficiency 32B
  • p.Gly123= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Gly139= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Gly185= Single submitter immunodeficiency 32B
  • p.Gly212= Single submitter immunodeficiency 32B
  • p.Gly243= Single submitter immunodeficiency 32B
  • p.Gly246= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Gly25= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Gly286= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Gly301= Single submitter immunodeficiency 32B
  • p.Gly382= Single submitter
  • p.His273= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Ile15= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Ile159= Single submitter immunodeficiency 32B
  • p.Ile27= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Ile409= Single submitter immunodeficiency 32B
  • p.Ile424= Single submitter immunodeficiency 32B
  • p.Leu146= Single submitter immunodeficiency 32B
  • p.Leu173= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Leu241= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Leu247= Single submitter immunodeficiency 32B
  • p.Leu270= Single submitter immunodeficiency 32B
  • p.Leu279= Single submitter immunodeficiency 32B
  • p.Leu366= Single submitter immunodeficiency 32B
  • p.Lys214= Single submitter immunodeficiency 32B
  • p.Lys290= Single submitter immunodeficiency 32B
  • p.Met22Lys Single submitter
  • p.Phe209= Single submitter immunodeficiency 32B
  • p.Phe322= Single submitter immunodeficiency 32B
  • p.Phe350= Single submitter
  • p.Pro165= Single submitter immunodeficiency 32B
  • p.Pro166= Single submitter immunodeficiency 32B
  • p.Pro187= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Pro244= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Pro254= Single submitter immunodeficiency 32B
  • p.Pro310= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Pro407= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Pro90= Single submitter immunodeficiency 32B
  • p.Ser282= Single submitter immunodeficiency 32B
  • p.Ser300= Single submitter immunodeficiency 32B
  • p.Ser362= Single submitter immunodeficiency 32B
  • p.Ser89= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Thr190= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Thr194= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Thr220= Single submitter immunodeficiency 32B
  • p.Thr222= Single submitter immunodeficiency 32B
  • p.Thr267= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Thr324= Single submitter immunodeficiency 32B
  • p.Thr425= Single submitter immunodeficiency 32B
  • p.Tyr192= Single submitter immunodeficiency 32B
  • p.Tyr195= Single submitter immunodeficiency 32B
  • p.Tyr373= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Val250= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Val321= Single submitter immunodeficiency 32B

Uncertain significance 224

  • p.Arg140His Multiple submitters immunodeficiency 32B ⚠
  • p.Arg228Cys Multiple submitters immunodeficiency 32B ⚠
  • p.Arg268Trp Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Arg296Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg315His Multiple submitters immunodeficiency 32B ⚠
  • p.Arg340Trp Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Arg361Gly Multiple submitters immunodeficiency 32B ⚠
  • p.Arg375Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg404Gln Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Arg415Ile Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Cys84Arg Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Gln368= Multiple submitters immunodeficiency 32B
  • p.Glu145Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu149= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Glu16Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu225Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Ile15Met Multiple submitters immunodeficiency 32B ⚠
  • p.Ile365Val Multiple submitters immunodeficiency 32B ⚠
  • p.Lys33Arg Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Met136Val Multiple submitters Inborn genetic diseases ⚠
  • p.Pro166Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro224Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Pro244Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro254Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Pro397Thr Multiple submitters immunodeficiency 32B ⚠
  • p.Pro398Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Ser20Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser34Arg Multiple submitters immunodeficiency 32B
  • p.Ser412Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Thr190Met Multiple submitters immunodeficiency 32B ⚠
  • p.Thr193Ala Multiple submitters immunodeficiency 32B ⚠
  • p.Thr267Met Multiple submitters Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Trp177Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Val287Met Multiple submitters immunodeficiency 32B ⚠
  • p.Val304Met Multiple submitters Inborn genetic diseases ⚠
  • c.174+4A>G Single submitter immunodeficiency 32B
  • c.174+5A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.175-3C>T Single submitter immunodeficiency 32B
  • c.358+4A>C Single submitter immunodeficiency 32B
  • c.358+4A>T Single submitter immunodeficiency 32B
  • c.448-3C>T Single submitter immunodeficiency 32B
  • c.601+1G>A Single submitter immunodeficiency 32B
  • c.601+5G>A Single submitter immunodeficiency 32B
  • c.601+5G>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.601+6G>C Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • c.602-13C>G Single submitter immunodeficiency 32B
  • c.-11_-2+1del Single submitter immunodeficiency 32B
  • p.Ala127Val Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Ala179Ser Single submitter immunodeficiency 32B ⚠
  • p.Ala179Val Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Ala197Thr Single submitter immunodeficiency 32B ⚠
  • p.Ala257Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Ala303Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Ala358Asp Single submitter immunodeficiency 32B ⚠
  • p.Ala381Gly Single submitter immunodeficiency 32B ⚠
  • p.Ala381Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala387Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Ala387Ser Single submitter immunodeficiency 32B ⚠
  • p.Ala73Val Single submitter immunodeficiency 32B ⚠
  • p.Ala76Val Single submitter immunodeficiency 32B ⚠
  • p.Arg111Ter Single submitter immunodeficiency 32B
  • p.Arg140Cys Single submitter immunodeficiency 32B ⚠
  • p.Arg140Leu Single submitter immunodeficiency 32B ⚠
  • p.Arg170Gln Single submitter ⚠
  • p.Arg170Gly Single submitter immunodeficiency 32B ⚠
  • p.Arg170Trp Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Arg228His Single submitter ⚠
  • p.Arg228Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Arg251Cys Single submitter immunodeficiency 32B ⚠
  • p.Arg251His Single submitter immunodeficiency 32B ⚠
  • p.Arg251Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg276His Single submitter immunodeficiency 32B ⚠
  • p.Arg284Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Arg284Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg284Trp Single submitter immunodeficiency 32B ⚠
  • p.Arg296His Single submitter immunodeficiency 32B ⚠
  • p.Arg345Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Arg361Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Arg361His Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Arg361Pro Single submitter immunodeficiency 32B ⚠
  • p.Arg375Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Arg404Trp Single submitter immunodeficiency 32B ⚠
  • p.Arg4Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Arg4Trp Single submitter ⚠
  • p.Arg8Trp Single submitter immunodeficiency 32B ⚠
  • p.Arg98Gln Single submitter immunodeficiency 32B ⚠
  • p.Arg9Trp Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Asn421Asp Single submitter immunodeficiency 32B ⚠
  • p.Asn5Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Asp154Asn Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Asp154Tyr Single submitter immunodeficiency 32B ⚠
  • p.Asp154Val Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Asp176Glu Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Asp196Asn Single submitter ⚠
  • p.Asp19Gly Single submitter immunodeficiency 32B ⚠
  • p.Asp256Asn Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Asp323Asn Single submitter immunodeficiency 32B ⚠
  • p.Asp323His Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Asp343Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Asp343Val Single submitter immunodeficiency 32B ⚠
  • p.Asp356Glu Single submitter immunodeficiency 32B ⚠
  • p.Asp3Glu Single submitter ⚠
  • p.Asp97Asn Single submitter immunodeficiency 32B ⚠
  • p.Cys138Trp Single submitter immunodeficiency 32B ⚠
  • p.Cys138Tyr Single submitter immunodeficiency 32B ⚠
  • p.Cys223Phe Single submitter immunodeficiency 32B ⚠
  • p.Cys410Phe Single submitter immunodeficiency 32B ⚠
  • p.Cys410Tyr Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Gln12His Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Gln12Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Gln181His Single submitter immunodeficiency 32B ⚠
  • p.Gln218Arg Single submitter immunodeficiency 32B ⚠
  • p.Gln233His Single submitter immunodeficiency 32B ⚠
  • p.Gln285Glu Single submitter immunodeficiency 32B ⚠
  • p.Gln320His Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Gln338Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln368Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Gln376fs Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Gln392fs Single submitter
  • p.Gln392His Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Gln423Ter Single submitter
  • p.Gln50Arg Single submitter immunodeficiency 32B ⚠
  • p.Glu115Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Glu135Asp Single submitter immunodeficiency 32B ⚠
  • p.Glu225Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Glu245Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu353Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Glu379Gln Single submitter immunodeficiency 32B ⚠
  • p.Glu395Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Glu395Lys Single submitter immunodeficiency 32B ⚠
  • p.Gly212Trp Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Gly238Arg Single submitter immunodeficiency 32B ⚠
  • p.Gly238Asp Single submitter immunodeficiency 32B ⚠
  • p.Gly238Cys Single submitter Inborn genetic diseases ⚠
  • p.Gly301Ser Single submitter immunodeficiency 32B ⚠
  • p.Gly308Asp Single submitter immunodeficiency 32B ⚠
  • p.Gly344Asp Single submitter immunodeficiency 32B ⚠
  • p.Gly344Cys Single submitter immunodeficiency 32B ⚠
  • p.Gly388Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Gly44Ser Single submitter immunodeficiency 32B ⚠
  • p.Gly7del Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Gly7Ser Single submitter immunodeficiency 32B
  • p.His199fs Single submitter immunodeficiency 32B
  • p.His273Gln Single submitter immunodeficiency 32B ⚠
  • p.His413Gln Single submitter Inborn genetic diseases ⚠
  • p.Ile18Thr Single submitter ⚠
  • p.Ile207Met Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Leu10Phe Single submitter immunodeficiency 32B ⚠
  • p.Leu173Val Single submitter immunodeficiency 32B ⚠
  • p.Leu279Met Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Leu313Met Single submitter immunodeficiency 32B ⚠
  • p.Leu341His Single submitter Inborn genetic diseases ⚠
  • p.Lys121Gln Single submitter Inborn genetic diseases ⚠
  • p.Lys121Ile Single submitter immunodeficiency 32B
  • p.Lys240Met Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Lys290Arg Single submitter immunodeficiency 32B ⚠
  • p.Lys58= Single submitter immunodeficiency 32B
  • p.Lys66Asn Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Met158Ile Single submitter ⚠
  • p.Met22Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Met357Val Single submitter ⚠
  • p.Met35Thr Single submitter immunodeficiency 32B ⚠
  • p.Met391Ile Single submitter immunodeficiency 32B ⚠
  • p.Met405Ile Single submitter immunodeficiency 32B ⚠
  • p.Met405Leu Single submitter immunodeficiency 32B ⚠
  • p.Phe202Val Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Phe298Ser Single submitter immunodeficiency 32B ⚠
  • p.Phe322Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Pro187Leu Single submitter immunodeficiency 32B ⚠
  • p.Pro237Thr Single submitter immunodeficiency 32B ⚠
  • p.Pro24Ala Single submitter immunodeficiency 32B ⚠
  • p.Pro24Arg Single submitter ⚠
  • p.Pro394fs Single submitter immunodeficiency 32B
  • p.Pro394Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Pro397Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Pro399fs Single submitter immunodeficiency 32B
  • p.Ser162Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Ser162Thr Single submitter immunodeficiency 32B ⚠
  • p.Ser183Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Ser200= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Ser208Arg Single submitter Inborn genetic diseases
  • p.Ser208Thr Single submitter immunodeficiency 32B ⚠
  • p.Ser20Gly Single submitter immunodeficiency 32B ⚠
  • p.Ser232Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Ser260Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Ser282Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Ser283Thr Single submitter immunodeficiency 32B ⚠
  • p.Ser34Asn Single submitter immunodeficiency 32B ⚠
  • p.Ser384Thr Single submitter immunodeficiency 32B ⚠
  • p.Ter427TyrextTer? Single submitter immunodeficiency 32B
  • p.Thr126Ile Single submitter ⚠
  • p.Thr126Ser Single submitter immunodeficiency 32B ⚠
  • p.Thr184= Single submitter immunodeficiency 32B
  • p.Thr184Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Thr190Arg Single submitter immunodeficiency 32B ⚠
  • p.Thr190Lys Single submitter immunodeficiency 32B ⚠
  • p.Thr190Pro Single submitter immunodeficiency 32B ⚠
  • p.Thr239Ile Single submitter immunodeficiency 32B ⚠
  • p.Thr239Ser Single submitter immunodeficiency 32B ⚠
  • p.Thr324Ala Single submitter immunodeficiency 32B ⚠
  • p.Thr425Ile Single submitter immunodeficiency 32B
  • p.Thr80Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Tyr23Cys Single submitter immunodeficiency 32B ⚠
  • p.Tyr335Cys Single submitter immunodeficiency 32B ⚠
  • p.Tyr373Cys Single submitter immunodeficiency 32B ⚠
  • p.Val109Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Val124Glu Single submitter Inborn genetic diseases ⚠
  • p.Val130Lys Single submitter immunodeficiency 32B
  • p.Val130Met Single submitter immunodeficiency 32B ⚠
  • p.Val133Ala Single submitter immunodeficiency 32B ⚠
  • p.Val186Met Single submitter immunodeficiency 32B ⚠
  • p.Val206Leu Single submitter immunodeficiency 32B ⚠
  • p.Val250Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Val289Ile Single submitter immunodeficiency 32B ⚠
  • p.Val318Met Single submitter Inborn genetic diseases ⚠
  • p.Val321Ile Single submitter Inborn genetic diseases ⚠
  • p.Val346Ala Single submitter immunodeficiency 32B ⚠
  • p.Val346Met Single submitter immunodeficiency 32B ⚠
  • p.Val367Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ⚠
  • p.Val390fs Single submitter immunodeficiency 32B
  • p.Val426= Single submitter Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • p.Val426Ala Single submitter Inborn genetic diseases ⚠
  • p.Val426Ile Single submitter ⚠
  • p.Val62Ile Single submitter immunodeficiency 32B ⚠