HAX1 — 679 ClinVar variants

All ClinVar germline HAX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 317 flagged for review →

32 Pathogenic · 8 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 13 Conflicting · 5 Benign · 7 Benign/Likely benign · 240 Likely benign · 352 Uncertain significance

Full HAX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 317

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.

HAX1 p.Ile222Thr Conflicting Single submitter
Inborn genetic diseases
HAX1 p.Ser53Gly Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 241

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 241

HAX1 p.Ala157Thr Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Ala97Ser Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg120Trp Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg150Ser Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg226His Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg235Gln Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg242Gln Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Arg250Gly Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg277Gln Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg277Trp Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg279Gln Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Arg279Trp Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg46Pro Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg50Ser Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg74His Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg86Gln Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Asp176Val Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Asp246His Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Asp34Glu Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Asp5Ala Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Asp5Glu Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Gln55Arg Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Glu106Ala Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Glu183Gln Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Glu254Gln Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Gly122Glu Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Gly142Arg Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Gly142Val Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Gly143Ala Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Gly195Val Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Gly234Ser Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Gly41Val Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Gly42Asp Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Gly64Asp Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Gly64Ser Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Gly80Ser Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.His56Gln Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Leu107Phe Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Leu270Ser Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Lys209Arg Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Met175Ile Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Phe4Ser Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Phe61Ser Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Phe65Val Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Pro154Leu Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Pro16Leu Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Pro16Ser Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Pro253Thr Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Pro54Ala Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Pro57Leu Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Pro69Arg Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Ser128Ala Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Ser192Pro Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Ser53Arg Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Trp160Cys Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Val191Ile Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Ala149Glu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Ala149Thr Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Ala157Pro Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Ala245Thr Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Ala260Val Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Ala264Thr Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Ala264Val Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Ala97Thr Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg150Gly Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg164Lys Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg168Gly Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg182Lys Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg20Gly Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg20Ile Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg250Ser Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg250Thr Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg257Lys Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg274His Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg279Leu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg29Gln Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg29Pro Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg50Lys Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg74Leu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asn185Ser Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asn78Ile Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asn89Ser Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp127Tyr Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Asp134Glu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp159Glu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp159His Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp159Val Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp170Ala Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp170Asn Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp170Gly Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp171Gly Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp176Gly Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp220His Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Asp220Tyr Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp220Val Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Asp246Ala Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp252Glu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp262Glu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp263Asn Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp5Val Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp77Asn Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Asp77Glu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp77His Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp77Tyr Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp94Val Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gln123Arg Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gln137Glu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gln163Arg Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gln190Leu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gln193His Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gln201His Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Glu111Val Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Glu113Asp Uncertain significance Single submitter
HAX1 p.Glu194Gln Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Glu224Lys Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Glu233Lys Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Glu244Lys Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Glu254Gly Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Glu31Asp Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Glu36Gly Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Glu60Asp Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly142Ala Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly142Trp Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly143Arg Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Gly143Glu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly15Val Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly161Asp Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly221Arg Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly221Glu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly234Val Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly251Ala Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Gly251Ser Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly251Val Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Gly273Arg Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly41Arg Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly45Asp Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly47Arg Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly47Trp Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly64Arg Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly70Val Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly71Glu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly72Arg Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly80Ala Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.His103Gln Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.His103Tyr Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.His136Tyr Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.His167Asp Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.His167Leu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.His19Tyr Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.His243Asn Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 74

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

HAX1 p.Arg126Gln Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg126Trp Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Arg226Cys Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg227Gln Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg227Leu Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg227Trp Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Arg235Trp Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg274Cys Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg46Cys Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg86Gly Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Glu37Gln Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Gly42Cys Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Phe208Ile Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Phe61Cys Uncertain significance Multiple submitters
Kostmann syndrome
HAX1 p.Ser189Pro Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Thr124Lys Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Val229Leu Uncertain significance Multiple submitters
Inborn genetic diseases
HAX1 p.Arg126Leu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg182Ser Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg20Ser Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg235Gly Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg235Leu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg242Gly Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Arg74Cys Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp184Asn Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp186Gly Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp188Asn Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp188Gly Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp21Ala Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp21His Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp32Val Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp34His Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp5Asn Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp5Gly Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp83Tyr Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp87Asn Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp87His Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Asp94Tyr Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Glu35Lys Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Glu36Gln Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Glu36Lys Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Glu37Ala Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Glu37Lys Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Glu39Gln Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Glu39Lys Uncertain significance Single submitter
HAX1 p.Gly12Asp Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly161Cys Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Gly9Arg Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Leu187Pro Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Leu200Gln Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Lys209Asn Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Met129Leu Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Phe11Ser Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Phe13Leu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Phe166Leu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Phe24Ser Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Phe271Leu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Phe4Tyr Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Phe65Leu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Phe79Leu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Phe81Val Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Phe88Leu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Pro14Leu Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Pro198Leu Conflicting Single submitter
Kostmann syndrome
HAX1 p.Ser153Cys Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Ser206Phe Uncertain significance Single submitter
HAX1 p.Ser247Cys Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Ser266Cys Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Thr236Ile Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Thr239Ala Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Tyr207Asp Uncertain significance Single submitter
Kostmann syndrome
HAX1 p.Tyr207Ser Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Val223Met Uncertain significance Single submitter
Inborn genetic diseases
HAX1 p.Ile267Thr Uncertain significance No assertion criteria
Kostmann syndrome

All HAX1 variants

Pathogenic 32

p.Gln123fs Multiple submitters Kostmann syndrome
p.Ser128Ter Multiple submitters Kostmann syndrome
p.Ser43fs Multiple submitters Kostmann syndrome
p.Trp44Ter Multiple submitters Kostmann syndrome
p.Val144fs Multiple submitters Kostmann syndrome
c.505-1G>C Single submitter Kostmann syndrome
c.556+1del Single submitter Kostmann syndrome
c.557-1G>T Single submitter Kostmann syndrome
p.Arg20fs Single submitter Kostmann syndrome
p.Gln163Ter Single submitter Kostmann syndrome
p.Gln190Ter Single submitter HAX1-related disorders
p.Gln55Ter Single submitter Kostmann syndrome
p.Glu113fs Single submitter Kostmann syndrome
p.Glu117Ter Single submitter Kostmann syndrome
p.Glu35fs Single submitter Kostmann syndrome
p.Gly15Ter Single submitter Kostmann syndrome
p.Gly72fs Single submitter
p.His56fs Single submitter Kostmann syndrome
p.Ile73fs Single submitter Kostmann syndrome
p.Leu125fs Single submitter Kostmann syndrome
p.Leu145fs Single submitter Kostmann syndrome
p.Leu3_Phe4insTer Single submitter Kostmann syndrome
p.Leu6fs Single submitter Kostmann syndrome
p.Phe79fs Single submitter Kostmann syndrome
p.Pro105_Glu106insTer Single submitter Kostmann syndrome
p.Pro49fs Single submitter Kostmann syndrome
p.Pro58fs Single submitter Kostmann syndrome
p.Ser53fs Single submitter Kostmann syndrome
p.Trp160Ter Single submitter Kostmann syndrome
p.Trp173Ter Single submitter Kostmann syndrome
p.Arg126fs No assertion criteria Kostmann syndrome
p.Pro58_Glu59insTer No assertion criteria Kostmann syndrome

Pathogenic/Likely pathogenic 8

c.557-1G>C Multiple submitters Kostmann syndrome
c.663+1G>A Multiple submitters Kostmann syndrome
p.Arg29Ter Multiple submitters Kostmann syndrome
p.Gln155fs Multiple submitters HAX1-related disorders
p.Glu113Ter Multiple submitters Kostmann syndrome
p.Glu31fs Multiple submitters HAX1-related disorders
p.Glu37Ter Multiple submitters HAX1-related disorder
p.His136fs Multiple submitters HAX1-related disorders

Likely pathogenic 22

c.317-2A>G Multiple submitters Kostmann syndrome
c.556+1G>A Multiple submitters severe congenital neutropenia
c.556+1G>C Multiple submitters Kostmann syndrome
p.Gln201Ter Multiple submitters severe congenital neutropenia
p.His19fs Multiple submitters Kostmann syndrome
c.316+1G>A Single submitter Kostmann syndrome
c.504+1G>A Single submitter Kostmann syndrome
c.53+1G>A Single submitter Kostmann syndrome
c.53+1G>C Single submitter Kostmann syndrome
c.54-2A>T Single submitter Kostmann syndrome
c.556+1_556+2dup Single submitter Kostmann syndrome
c.557-1G>A Single submitter Kostmann syndrome
c.663+1G>C Single submitter Kostmann syndrome
c.664-1G>A Single submitter Kostmann syndrome
c.664-1G>T Single submitter Kostmann syndrome
p.Arg120fs Single submitter Kostmann syndrome
p.Arg226fs Single submitter Kostmann syndrome
p.Arg29_Asp30insTer Single submitter HAX1-related disorders
p.Gln155Ter Single submitter Kostmann syndrome
p.Gln203fs Single submitter Kostmann syndrome
p.Met27fs Single submitter Kostmann syndrome
p.Pro105fs Single submitter Kostmann syndrome

Conflicting classifications of pathogenicity 13

c.317-4G>T Single submitter Kostmann syndrome
c.505-4G>A Single submitter Kostmann syndrome
c.557-12C>G Single submitter Kostmann syndrome
c.*47A>G Single submitter Kostmann syndrome
p.Arg242Ter Single submitter Kostmann syndrome
p.Arg86Ter Single submitter congenital portosystemic shunt
p.Glu40_Gly41dup Single submitter Kostmann syndrome
p.Glu40del Single submitter Kostmann syndrome
p.Ile222Thr Single submitter Inborn genetic diseases ⚠
p.Pro198Leu Single submitter Kostmann syndrome ⚠
p.Ser153= Single submitter Inborn genetic diseases
p.Ser53Gly Single submitter Inborn genetic diseases ⚠
p.Thr238Ile Single submitter Kostmann syndrome

Benign 5

c.504+26T>A Multiple submitters
c.-52G>T Multiple submitters Kostmann syndrome
c.-58T>G Multiple submitters Kostmann syndrome
c.-53_-52del Single submitter
c.-53_-52delinsT Single submitter

Benign/Likely benign 7

c.505-16A>G Multiple submitters Kostmann syndrome
c.53+11G>A Multiple submitters Kostmann syndrome
c.53+13C>T Multiple submitters Kostmann syndrome
c.53+14C>T Multiple submitters Kostmann syndrome
p.Pro69= Multiple submitters Kostmann syndrome
p.Ser53= Multiple submitters hereditary sensory and autonomic neuropathy type 4
p.Val172Ile Multiple submitters Kostmann syndrome

Likely benign 240

c.316+12dup Multiple submitters Kostmann syndrome
c.316+19G>A Multiple submitters Kostmann syndrome
c.504+12A>G Multiple submitters Kostmann syndrome
c.505-14G>C Multiple submitters Kostmann syndrome
c.54-18A>G Multiple submitters Kostmann syndrome
c.556+13G>A Multiple submitters Kostmann syndrome
c.557-6T>C Multiple submitters Kostmann syndrome
p.Ala260= Multiple submitters Inborn genetic diseases
p.Ala97= Multiple submitters Inborn genetic diseases
p.Arg164= Multiple submitters Inborn genetic diseases
p.Arg227= Multiple submitters Kostmann syndrome
p.Arg274= Multiple submitters Kostmann syndrome
p.Arg8= Multiple submitters Inborn genetic diseases
p.Asp148= Multiple submitters Inborn genetic diseases
p.Asp176= Multiple submitters Inborn genetic diseases
p.Asp220= Multiple submitters Inborn genetic diseases
p.Asp82= Multiple submitters Inborn genetic diseases
p.Gln137= Multiple submitters Kostmann syndrome
p.Gln155= Multiple submitters Kostmann syndrome
p.Glu117= Multiple submitters Inborn genetic diseases
p.Glu121= Multiple submitters Inborn genetic diseases
p.Glu146Lys Multiple submitters Kostmann syndrome
p.Glu183= Multiple submitters Inborn genetic diseases
p.Glu233= Multiple submitters Inborn genetic diseases
p.Glu60= Multiple submitters Inborn genetic diseases
p.Gly12= Multiple submitters Kostmann syndrome
p.Gly142= Multiple submitters Kostmann syndrome
p.Gly143= Multiple submitters Inborn genetic diseases
p.Gly26= Multiple submitters Inborn genetic diseases
p.Gly41= Multiple submitters Kostmann syndrome
p.Gly96= Multiple submitters Inborn genetic diseases
p.His167= Multiple submitters Inborn genetic diseases
p.His19= Multiple submitters Inborn genetic diseases
p.His243= Multiple submitters Inborn genetic diseases
p.His56= Multiple submitters Inborn genetic diseases
p.His76= Multiple submitters Inborn genetic diseases
p.Leu119= Multiple submitters Inborn genetic diseases
p.Leu272= Multiple submitters Inborn genetic diseases
p.Leu6= Multiple submitters Kostmann syndrome
p.Lys215= Multiple submitters Inborn genetic diseases
p.Phe10= Multiple submitters Inborn genetic diseases
p.Phe141= Multiple submitters Inborn genetic diseases
p.Phe265= Multiple submitters Inborn genetic diseases
p.Phe75= Multiple submitters Inborn genetic diseases
p.Pro14= Multiple submitters Inborn genetic diseases
p.Pro154= Multiple submitters Kostmann syndrome
p.Pro165= Multiple submitters Inborn genetic diseases
p.Pro177= Multiple submitters Inborn genetic diseases
p.Pro198= Multiple submitters Inborn genetic diseases
p.Pro204= Multiple submitters Inborn genetic diseases
p.Pro256= Multiple submitters Inborn genetic diseases
p.Pro57= Multiple submitters Inborn genetic diseases
p.Ser151= Multiple submitters Inborn genetic diseases
p.Ser162= Multiple submitters Inborn genetic diseases
p.Ser189= Multiple submitters Kostmann syndrome
p.Ser212= Multiple submitters Inborn genetic diseases
p.Ser248= Multiple submitters Inborn genetic diseases
p.Ser266= Multiple submitters Inborn genetic diseases
p.Ser90= Multiple submitters Kostmann syndrome
p.Tyr132= Multiple submitters Inborn genetic diseases
p.Tyr207= Multiple submitters Inborn genetic diseases
p.Val230= Multiple submitters Inborn genetic diseases
c.316+10T>C Single submitter
c.316+10T>G Single submitter Kostmann syndrome
c.316+17_316+28del Single submitter Kostmann syndrome
c.316+17A>G Single submitter Kostmann syndrome
c.317-11C>T Single submitter Kostmann syndrome
c.317-17C>G Single submitter Kostmann syndrome
c.317-17C>T Single submitter Kostmann syndrome
c.317-19A>C Single submitter Kostmann syndrome
c.317-19A>G Single submitter Kostmann syndrome
c.317-33C>T Single submitter
c.317-41G>A Single submitter
c.317-9T>A Single submitter Kostmann syndrome
c.504+10C>A Single submitter Kostmann syndrome
c.504+10C>T Single submitter Kostmann syndrome
c.504+12A>C Single submitter Kostmann syndrome
c.504+12A>T Single submitter Kostmann syndrome
c.504+15T>C Single submitter Kostmann syndrome
c.504+19C>T Single submitter Kostmann syndrome
c.504+7A>G Single submitter Kostmann syndrome
c.504+7dup Single submitter Kostmann syndrome
c.504+9C>G Single submitter Kostmann syndrome
c.505-13G>T Single submitter Kostmann syndrome
c.505-14G>T Single submitter Kostmann syndrome
c.505-20T>C Single submitter Kostmann syndrome
c.505-9C>T Single submitter Kostmann syndrome
c.53+16G>A Single submitter Kostmann syndrome
c.53+19C>T Single submitter Kostmann syndrome
c.53+3GA[3] Single submitter Kostmann syndrome
c.53+6_53+7insT Single submitter Kostmann syndrome
c.53+7G>A Single submitter Kostmann syndrome
c.53+9A>C Single submitter Kostmann syndrome
c.54-12C>T Single submitter Kostmann syndrome
c.54-14G>A Single submitter Kostmann syndrome
c.54-15T>G Single submitter Kostmann syndrome
c.54-20C>G Single submitter Kostmann syndrome
c.54-4T>A Single submitter Kostmann syndrome
c.54-4T>G Single submitter Kostmann syndrome
c.54-5C>T Single submitter Kostmann syndrome
c.54-6T>C Single submitter Kostmann syndrome
c.54-8A>G Single submitter Kostmann syndrome
c.54-9del Single submitter Kostmann syndrome
c.556+11A>G Single submitter Kostmann syndrome
c.556+15A>C Single submitter Kostmann syndrome
c.556+15A>G Single submitter Kostmann syndrome
c.556+17G>T Single submitter Kostmann syndrome
c.556+9G>A Single submitter Kostmann syndrome
c.557-11T>C Single submitter Kostmann syndrome
c.557-16C>T Single submitter Kostmann syndrome
c.557-18A>G Single submitter Kostmann syndrome
c.557-19C>T Single submitter Kostmann syndrome
c.557-5T>C Single submitter Kostmann syndrome
c.557-7C>T Single submitter Kostmann syndrome
c.557-8del Single submitter
c.557-8T>C Single submitter Kostmann syndrome
c.557-9C>A Single submitter Kostmann syndrome
c.663+14_663+17del Single submitter Kostmann syndrome
c.663+18G>C Single submitter Kostmann syndrome
c.663+20dup Single submitter Kostmann syndrome
c.664-10C>T Single submitter Kostmann syndrome
c.664-13C>T Single submitter Kostmann syndrome
c.664-4G>A Single submitter Kostmann syndrome
c.664-5T>G Single submitter Kostmann syndrome
c.664-6T>C Single submitter Kostmann syndrome
c.664-8C>G Single submitter Kostmann syndrome
c.664-8C>T Single submitter Kostmann syndrome
c.664-9T>C Single submitter Kostmann syndrome
c.754+12G>A Single submitter Kostmann syndrome
c.754+16_754+17del Single submitter Kostmann syndrome
c.754+16A>G Single submitter Kostmann syndrome
c.754+17A>G Single submitter Kostmann syndrome
c.754+18G>T Single submitter Kostmann syndrome
c.754+19G>C Single submitter Kostmann syndrome
c.754+7T>G Single submitter Kostmann syndrome
c.754+8A>C Single submitter Kostmann syndrome
c.755-12T>A Single submitter Kostmann syndrome
c.755-13C>T Single submitter Kostmann syndrome
c.755-17A>G Single submitter Kostmann syndrome
c.755-19G>A Single submitter Kostmann syndrome
c.755-19G>T Single submitter Kostmann syndrome
c.755-4T>C Single submitter Kostmann syndrome
c.755-5C>G Single submitter Kostmann syndrome
c.755-5C>T Single submitter Kostmann syndrome
c.755-6C>T Single submitter Kostmann syndrome
c.-5C>T Single submitter
p.Ala149Gly Single submitter Inborn genetic diseases
p.Ala157= Single submitter Kostmann syndrome
p.Ala264= Single submitter Inborn genetic diseases
p.Arg120Gln Single submitter Inborn genetic diseases
p.Arg139= Single submitter Inborn genetic diseases
p.Arg17= Single submitter Inborn genetic diseases
p.Arg226= Single submitter Kostmann syndrome
p.Arg235= Single submitter Kostmann syndrome
p.Arg277= Single submitter Kostmann syndrome
p.Arg279= Single submitter Kostmann syndrome
p.Asn48= Single submitter Inborn genetic diseases
p.Asn89= Single submitter Inborn genetic diseases
p.Asp127= Single submitter Kostmann syndrome
p.Asp171= Single submitter Kostmann syndrome
p.Asp184= Single submitter Kostmann syndrome
p.Asp246= Single submitter Inborn genetic diseases
p.Asp262= Single submitter Kostmann syndrome
p.Asp32= Single submitter Kostmann syndrome
p.Asp33= Single submitter Kostmann syndrome
p.Asp33Glu Single submitter Inborn genetic diseases
p.Asp5= Single submitter Inborn genetic diseases
p.Asp77= Single submitter Kostmann syndrome
p.Asp87= Single submitter Inborn genetic diseases
p.Gln155Lys Single submitter Inborn genetic diseases
p.Gln163= Single submitter Inborn genetic diseases
p.Gln203= Single submitter Inborn genetic diseases
p.Glu152= Single submitter Kostmann syndrome
p.Glu194= Single submitter Kostmann syndrome
p.Glu225= Single submitter Inborn genetic diseases
p.Glu35= Single submitter Inborn genetic diseases
p.Glu36= Single submitter Kostmann syndrome
p.Glu59= Single submitter Inborn genetic diseases
p.Gly122= Single submitter Inborn genetic diseases
p.Gly234= Single submitter Kostmann syndrome
p.Gly251Asp Single submitter Inborn genetic diseases
p.Gly273= Single submitter Kostmann syndrome
p.Gly42= Single submitter Inborn genetic diseases
p.Gly42Ala Single submitter Inborn genetic diseases
p.Gly62= Single submitter Kostmann syndrome
p.Gly70= Single submitter Inborn genetic diseases
p.Gly72= Single submitter Kostmann syndrome
p.Gly9= Single submitter Kostmann syndrome
p.His103Arg Single submitter Inborn genetic diseases
p.His243Gln Single submitter Inborn genetic diseases
p.Ile140= Single submitter Kostmann syndrome
p.Ile211= Single submitter Kostmann syndrome
p.Ile211Val Single submitter Inborn genetic diseases
p.Ile222= Single submitter Kostmann syndrome
p.Leu130= Single submitter Inborn genetic diseases
p.Leu187= Single submitter Inborn genetic diseases
p.Leu196= Single submitter Inborn genetic diseases
p.Leu261= Single submitter Inborn genetic diseases
p.Leu268= Single submitter Kostmann syndrome
p.Leu270= Single submitter Inborn genetic diseases
p.Leu3= Single submitter Kostmann syndrome
p.Lys131= Single submitter Kostmann syndrome
p.Lys218= Single submitter Kostmann syndrome
p.Met175Val Single submitter Inborn genetic diseases
p.Phe11= Single submitter Inborn genetic diseases
p.Phe13= Single submitter Inborn genetic diseases
p.Phe169= Single submitter Kostmann syndrome
p.Phe208= Single submitter Inborn genetic diseases
p.Phe276= Single submitter Inborn genetic diseases
p.Phe4= Single submitter Kostmann syndrome
p.Phe63= Single submitter Kostmann syndrome
p.Phe7= Single submitter Kostmann syndrome
p.Phe79= Single submitter Inborn genetic diseases
p.Phe92= Single submitter Kostmann syndrome
p.Pro133= Single submitter Kostmann syndrome
p.Pro138= Single submitter Kostmann syndrome
p.Pro16= Single submitter Inborn genetic diseases
p.Pro202= Single submitter Kostmann syndrome
p.Pro219= Single submitter Kostmann syndrome
p.Pro253= Single submitter Inborn genetic diseases
p.Pro258= Single submitter Inborn genetic diseases
p.Pro49= Single submitter Kostmann syndrome
p.Pro54= Single submitter Kostmann syndrome
p.Pro58= Single submitter Kostmann syndrome
p.Ser102= Single submitter Inborn genetic diseases
p.Ser128= Single submitter Inborn genetic diseases
p.Ser192= Single submitter Inborn genetic diseases
p.Ser206= Single submitter Inborn genetic diseases
p.Ser210= Single submitter Inborn genetic diseases
p.Ser247= Single submitter Kostmann syndrome
p.Ser43= Single submitter Kostmann syndrome
p.Ser93= Single submitter Kostmann syndrome
p.Thr114= Single submitter Inborn genetic diseases
p.Thr181= Single submitter Kostmann syndrome
p.Thr228= Single submitter Kostmann syndrome
p.Thr239= Single submitter Kostmann syndrome
p.Thr241= Single submitter Inborn genetic diseases
p.Thr28= Single submitter Kostmann syndrome
p.Val172= Single submitter Kostmann syndrome
p.Val85= Single submitter Inborn genetic diseases

Uncertain significance 352

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

c.*1C>G Multiple submitters Kostmann syndrome
p.Ala157Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala97Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg120Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg126Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg126Trp Multiple submitters Kostmann syndrome ⚠
p.Arg150Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg20_Asp21delinsSerHis Multiple submitters Kostmann syndrome
p.Arg226Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg226His Multiple submitters Inborn genetic diseases ⚠
p.Arg227Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg227Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg227Trp Multiple submitters Kostmann syndrome ⚠
p.Arg235Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg235Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg242Gln Multiple submitters Kostmann syndrome ⚠
p.Arg250Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg274Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg277Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg277Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg279Gln Multiple submitters Kostmann syndrome ⚠
p.Arg279Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg46Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg46Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg50Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg74His Multiple submitters Inborn genetic diseases ⚠
p.Arg86Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg86Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp176Val Multiple submitters Inborn genetic diseases ⚠
p.Asp246His Multiple submitters Inborn genetic diseases ⚠
p.Asp34del Multiple submitters Kostmann syndrome
p.Asp34Glu Multiple submitters Kostmann syndrome ⚠
p.Asp5Ala Multiple submitters Kostmann syndrome ⚠
p.Asp5Glu Multiple submitters Kostmann syndrome ⚠
p.Gln55Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu106Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu183Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu254Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu37Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu40_Gly41insGluGlu Multiple submitters Kostmann syndrome
p.Gly122Glu Multiple submitters Kostmann syndrome ⚠
p.Gly142Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly142Val Multiple submitters Inborn genetic diseases ⚠
p.Gly143Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly195Ser Multiple submitters Inborn genetic diseases
p.Gly195Val Multiple submitters Inborn genetic diseases ⚠
p.Gly234Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly41Val Multiple submitters Inborn genetic diseases ⚠
p.Gly42Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly42Cys Multiple submitters Inborn genetic diseases ⚠
p.Gly64Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly64Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly80Ser Multiple submitters Kostmann syndrome ⚠
p.His56Gln Multiple submitters Inborn genetic diseases ⚠
p.Leu107Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu270Ser Multiple submitters Kostmann syndrome ⚠
p.Lys209Arg Multiple submitters Kostmann syndrome ⚠
p.Met175Ile Multiple submitters Inborn genetic diseases ⚠
p.Phe208Ile Multiple submitters Inborn genetic diseases ⚠
p.Phe4Ser Multiple submitters Kostmann syndrome ⚠
p.Phe61Cys Multiple submitters Kostmann syndrome ⚠
p.Phe61Ser Multiple submitters Inborn genetic diseases ⚠
p.Phe65Val Multiple submitters Inborn genetic diseases ⚠
p.Pro154Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro16Leu Multiple submitters Kostmann syndrome ⚠
p.Pro16Ser Multiple submitters Kostmann syndrome ⚠
p.Pro202Leu Multiple submitters Kostmann syndrome
p.Pro253Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro54Ala Multiple submitters Kostmann syndrome ⚠
p.Pro57Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro69Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser128Ala Multiple submitters Kostmann syndrome ⚠
p.Ser189Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser192Pro Multiple submitters Kostmann syndrome ⚠
p.Ser266Phe Multiple submitters Inborn genetic diseases
p.Ser53Arg Multiple submitters Kostmann syndrome ⚠
p.Thr124Lys Multiple submitters Inborn genetic diseases ⚠
p.Trp160Cys Multiple submitters Inborn genetic diseases ⚠
p.Val191Ile Multiple submitters Inborn genetic diseases ⚠
p.Val229Leu Multiple submitters Inborn genetic diseases ⚠
c.316+4T>G Single submitter Kostmann syndrome
c.53+26G>A Single submitter
c.556+2dup Single submitter
c.556+5G>A Single submitter Kostmann syndrome
c.663+5G>C Single submitter Kostmann syndrome
c.-150A>T Single submitter Kostmann syndrome
c.*80C>T Single submitter Kostmann syndrome
p.Ala149Glu Single submitter Inborn genetic diseases ⚠
p.Ala149Thr Single submitter Inborn genetic diseases ⚠
p.Ala157Pro Single submitter Inborn genetic diseases ⚠
p.Ala245Thr Single submitter Inborn genetic diseases ⚠
p.Ala260Val Single submitter Kostmann syndrome ⚠
p.Ala264Thr Single submitter Inborn genetic diseases ⚠
p.Ala264Val Single submitter Inborn genetic diseases ⚠
p.Ala97Thr Single submitter Inborn genetic diseases ⚠
p.Arg126Leu Single submitter Inborn genetic diseases ⚠
p.Arg150Gly Single submitter Inborn genetic diseases ⚠
p.Arg164Lys Single submitter Inborn genetic diseases ⚠
p.Arg168Gly Single submitter Inborn genetic diseases ⚠
p.Arg182Lys Single submitter Inborn genetic diseases ⚠
p.Arg182Ser Single submitter Inborn genetic diseases ⚠
p.Arg20Gly Single submitter Inborn genetic diseases ⚠
p.Arg20Ile Single submitter Inborn genetic diseases ⚠
p.Arg20Ser Single submitter Inborn genetic diseases ⚠
p.Arg226Ser Single submitter Inborn genetic diseases
p.Arg235Gly Single submitter Inborn genetic diseases ⚠
p.Arg235Leu Single submitter Inborn genetic diseases ⚠
p.Arg242Gly Single submitter Inborn genetic diseases ⚠
p.Arg250Ser Single submitter Inborn genetic diseases ⚠
p.Arg250Thr Single submitter Inborn genetic diseases ⚠
p.Arg257Lys Single submitter Inborn genetic diseases ⚠
p.Arg274His Single submitter Inborn genetic diseases ⚠
p.Arg274Ser Single submitter Inborn genetic diseases
p.Arg279Leu Single submitter Inborn genetic diseases ⚠
p.Arg29Gln Single submitter Inborn genetic diseases ⚠
p.Arg29Pro Single submitter Inborn genetic diseases ⚠
p.Arg46del Single submitter Kostmann syndrome
p.Arg50Lys Single submitter Inborn genetic diseases ⚠
p.Arg74Cys Single submitter Inborn genetic diseases ⚠
p.Arg74Leu Single submitter Inborn genetic diseases ⚠
p.Asn185Ser Single submitter Inborn genetic diseases ⚠
p.Asn78Ile Single submitter Inborn genetic diseases ⚠
p.Asn89Ser Single submitter Inborn genetic diseases ⚠
p.Asp127Tyr Single submitter Kostmann syndrome ⚠
p.Asp134Glu Single submitter Inborn genetic diseases ⚠
p.Asp134Tyr Single submitter Inborn genetic diseases
p.Asp159Glu Single submitter Inborn genetic diseases ⚠
p.Asp159His Single submitter Inborn genetic diseases ⚠
p.Asp159Val Single submitter Inborn genetic diseases ⚠
p.Asp170Ala Single submitter Inborn genetic diseases ⚠
p.Asp170Asn Single submitter Inborn genetic diseases ⚠
p.Asp170Gly Single submitter Inborn genetic diseases ⚠
p.Asp171Gly Single submitter Inborn genetic diseases ⚠
p.Asp176Gly Single submitter Inborn genetic diseases ⚠
p.Asp184Asn Single submitter Inborn genetic diseases ⚠
p.Asp186Gly Single submitter Inborn genetic diseases ⚠
p.Asp188Asn Single submitter Inborn genetic diseases ⚠
p.Asp188Gly Single submitter Inborn genetic diseases ⚠
p.Asp21Ala Single submitter Inborn genetic diseases ⚠
p.Asp21His Single submitter Inborn genetic diseases ⚠
p.Asp220His Single submitter Kostmann syndrome ⚠
p.Asp220Tyr Single submitter Inborn genetic diseases ⚠
p.Asp220Val Single submitter Kostmann syndrome ⚠
p.Asp246Ala Single submitter Inborn genetic diseases ⚠
p.Asp252Glu Single submitter Inborn genetic diseases ⚠
p.Asp262Glu Single submitter Inborn genetic diseases ⚠
p.Asp263Asn Single submitter Inborn genetic diseases ⚠
p.Asp32Val Single submitter Inborn genetic diseases ⚠
p.Asp34His Single submitter Inborn genetic diseases ⚠
p.Asp5Asn Single submitter Inborn genetic diseases ⚠
p.Asp5Gly Single submitter Inborn genetic diseases ⚠
p.Asp5Val Single submitter Inborn genetic diseases ⚠
p.Asp77Asn Single submitter Kostmann syndrome ⚠
p.Asp77Glu Single submitter Inborn genetic diseases ⚠
p.Asp77His Single submitter Inborn genetic diseases ⚠
p.Asp77Tyr Single submitter Inborn genetic diseases ⚠
p.Asp83Tyr Single submitter Inborn genetic diseases ⚠
p.Asp87Asn Single submitter Inborn genetic diseases ⚠
p.Asp87His Single submitter Inborn genetic diseases ⚠
p.Asp94Tyr Single submitter Inborn genetic diseases ⚠
p.Asp94Val Single submitter Inborn genetic diseases ⚠
p.Gln123Arg Single submitter Inborn genetic diseases ⚠
p.Gln137Glu Single submitter Inborn genetic diseases ⚠
p.Gln163Arg Single submitter Inborn genetic diseases ⚠
p.Gln190Leu Single submitter Inborn genetic diseases ⚠
p.Gln193His Single submitter Inborn genetic diseases ⚠
p.Gln201His Single submitter Inborn genetic diseases ⚠
p.Glu111Val Single submitter Inborn genetic diseases ⚠
p.Glu113Asp Single submitter ⚠
p.Glu194Gln Single submitter Inborn genetic diseases ⚠
p.Glu224Lys Single submitter Inborn genetic diseases ⚠
p.Glu233Lys Single submitter Inborn genetic diseases ⚠
p.Glu244Lys Single submitter Inborn genetic diseases ⚠
p.Glu254Gly Single submitter Inborn genetic diseases ⚠
p.Glu31_Asp32del Single submitter HAX1-related disorder
p.Glu31Asp Single submitter Inborn genetic diseases ⚠
p.Glu31del Single submitter Kostmann syndrome
p.Glu35Lys Single submitter Inborn genetic diseases ⚠
p.Glu36Gln Single submitter Kostmann syndrome ⚠
p.Glu36Gly Single submitter Inborn genetic diseases ⚠
p.Glu36Lys Single submitter Kostmann syndrome ⚠
p.Glu37Ala Single submitter Kostmann syndrome ⚠
p.Glu37Lys Single submitter Inborn genetic diseases ⚠
p.Glu39_Glu40dup Single submitter Kostmann syndrome
p.Glu39Gln Single submitter Inborn genetic diseases ⚠
p.Glu39Lys Single submitter ⚠
p.Glu40_Gly41insGlu Single submitter Kostmann syndrome
p.Glu60Asp Single submitter Inborn genetic diseases ⚠
p.Gly12Asp Single submitter Inborn genetic diseases ⚠
p.Gly142Ala Single submitter Inborn genetic diseases ⚠
p.Gly142Trp Single submitter Inborn genetic diseases ⚠
p.Gly143Arg Single submitter Kostmann syndrome ⚠
p.Gly143Glu Single submitter Inborn genetic diseases ⚠
p.Gly15Val Single submitter Inborn genetic diseases ⚠
p.Gly161Asp Single submitter Inborn genetic diseases ⚠
p.Gly161Cys Single submitter Inborn genetic diseases ⚠
p.Gly221= Single submitter Kostmann syndrome
p.Gly221Arg Single submitter Inborn genetic diseases ⚠
p.Gly221Glu Single submitter Inborn genetic diseases ⚠
p.Gly234Val Single submitter Inborn genetic diseases ⚠
p.Gly251Ala Single submitter Kostmann syndrome ⚠
p.Gly251Ser Single submitter Inborn genetic diseases ⚠
p.Gly251Val Single submitter Kostmann syndrome ⚠
p.Gly273Arg Single submitter Inborn genetic diseases ⚠
p.Gly41Arg Single submitter Inborn genetic diseases ⚠
p.Gly45Asp Single submitter Inborn genetic diseases ⚠
p.Gly47Arg Single submitter Inborn genetic diseases ⚠
p.Gly47Trp Single submitter Inborn genetic diseases ⚠
p.Gly64Arg Single submitter Inborn genetic diseases ⚠
p.Gly70Val Single submitter Inborn genetic diseases ⚠
p.Gly71Glu Single submitter Inborn genetic diseases ⚠
p.Gly72Arg Single submitter Inborn genetic diseases ⚠
p.Gly72del Single submitter Kostmann syndrome
p.Gly80Ala Single submitter Inborn genetic diseases ⚠
p.Gly80Asp Single submitter
p.Gly9Arg Single submitter Inborn genetic diseases ⚠
p.His103Gln Single submitter Inborn genetic diseases ⚠
p.His103Tyr Single submitter Inborn genetic diseases ⚠
p.His136Tyr Single submitter Inborn genetic diseases ⚠
p.His167Asp Single submitter Inborn genetic diseases ⚠
p.His167Leu Single submitter Inborn genetic diseases ⚠
p.His19Tyr Single submitter Inborn genetic diseases ⚠
p.His243Asn Single submitter Inborn genetic diseases ⚠
p.His243Tyr Single submitter Inborn genetic diseases ⚠
p.His52Arg Single submitter Inborn genetic diseases ⚠
p.His52Tyr Single submitter Inborn genetic diseases ⚠
p.His56Pro Single submitter Inborn genetic diseases ⚠
p.His56Tyr Single submitter Inborn genetic diseases ⚠
p.His76Arg Single submitter Inborn genetic diseases ⚠
p.His76Tyr Single submitter ⚠
p.Ile267fs Single submitter Kostmann syndrome
p.Ile267Phe Single submitter Inborn genetic diseases ⚠
p.Leu119Val Single submitter Inborn genetic diseases ⚠
p.Leu145Val Single submitter Inborn genetic diseases ⚠
p.Leu187Pro Single submitter Kostmann syndrome ⚠
p.Leu187Val Single submitter Inborn genetic diseases ⚠
p.Leu200Gln Single submitter Kostmann syndrome ⚠
p.Leu261Pro Single submitter Inborn genetic diseases ⚠
p.Leu261Val Single submitter Kostmann syndrome ⚠
p.Leu272Val Single submitter Inborn genetic diseases ⚠
p.Leu3Val Single submitter Inborn genetic diseases ⚠
p.Lys205Arg Single submitter Kostmann syndrome ⚠
p.Lys209Asn Single submitter Inborn genetic diseases ⚠
p.Lys209Gln Single submitter Inborn genetic diseases ⚠
p.Met129Leu Single submitter Kostmann syndrome ⚠
p.Met129Val Single submitter ⚠
p.Met175Thr Single submitter Inborn genetic diseases ⚠
p.Met95Ile Single submitter Inborn genetic diseases ⚠
p.Met95Val Single submitter Inborn genetic diseases ⚠
p.Phe10Cys Single submitter Inborn genetic diseases ⚠
p.Phe11Ser Single submitter Kostmann syndrome ⚠
p.Phe13Leu Single submitter Inborn genetic diseases ⚠
p.Phe166Leu Single submitter Inborn genetic diseases ⚠
p.Phe23Val Single submitter Kostmann syndrome ⚠
p.Phe24Ser Single submitter Inborn genetic diseases ⚠
p.Phe271Leu Single submitter Inborn genetic diseases ⚠
p.Phe276Ser Single submitter Inborn genetic diseases ⚠
p.Phe4Tyr Single submitter Inborn genetic diseases ⚠
p.Phe65_Ser66insGlyPhe Single submitter Kostmann syndrome
p.Phe65Leu Single submitter Inborn genetic diseases ⚠
p.Phe75Cys Single submitter Inborn genetic diseases ⚠
p.Phe79Leu Single submitter Inborn genetic diseases ⚠
p.Phe81Val Single submitter Inborn genetic diseases ⚠
p.Phe88Leu Single submitter Inborn genetic diseases ⚠
p.Pro101Leu Single submitter Inborn genetic diseases ⚠
p.Pro104Ser Single submitter Inborn genetic diseases ⚠
p.Pro105Ala Single submitter Inborn genetic diseases ⚠
p.Pro105Arg Single submitter Inborn genetic diseases ⚠
p.Pro105Leu Single submitter Inborn genetic diseases ⚠
p.Pro108Ala Single submitter Inborn genetic diseases ⚠
p.Pro108Leu Single submitter Inborn genetic diseases ⚠
p.Pro108Ser Single submitter Kostmann syndrome ⚠
p.Pro110Ala Single submitter Inborn genetic diseases ⚠
p.Pro115Arg Single submitter Inborn genetic diseases ⚠
p.Pro138His Single submitter Kostmann syndrome ⚠
p.Pro14Leu Single submitter Inborn genetic diseases ⚠
p.Pro154Ser Single submitter Inborn genetic diseases ⚠
p.Pro156Gln Single submitter Inborn genetic diseases ⚠
p.Pro156Ser Single submitter Inborn genetic diseases ⚠
p.Pro156Thr Single submitter Inborn genetic diseases ⚠
p.Pro158Ala Single submitter Inborn genetic diseases ⚠
p.Pro158Ser Single submitter Inborn genetic diseases ⚠
p.Pro165Leu Single submitter Inborn genetic diseases ⚠
p.Pro16Arg Single submitter Inborn genetic diseases ⚠
p.Pro174Arg Single submitter Kostmann syndrome ⚠
p.Pro174His Single submitter Kostmann syndrome ⚠
p.Pro174Ser Single submitter Inborn genetic diseases ⚠
p.Pro174Thr Single submitter Inborn genetic diseases ⚠
p.Pro179Ala Single submitter Inborn genetic diseases ⚠
p.Pro22Leu Single submitter Kostmann syndrome ⚠
p.Pro249Arg Single submitter Inborn genetic diseases ⚠
p.Pro249Thr Single submitter Inborn genetic diseases ⚠
p.Pro256Leu Single submitter Inborn genetic diseases ⚠
p.Pro258Arg Single submitter Inborn genetic diseases ⚠
p.Pro49Gln Single submitter Inborn genetic diseases ⚠
p.Pro58Ala Single submitter Inborn genetic diseases ⚠
p.Pro58Ser Single submitter Kostmann syndrome ⚠
p.Pro58Thr Single submitter ⚠
p.Ser102Phe Single submitter Inborn genetic diseases ⚠
p.Ser153Cys Single submitter Inborn genetic diseases ⚠