Sugi Variant

Sugi Variant/XIAP

XIAP — 429 ClinVar variants

All ClinVar germline XIAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →

56 Pathogenic · 1 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 21 Conflicting · 68 Benign · 18 Benign/Likely benign · 75 Likely benign · 173 Uncertain significance

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

⚑ Evidence disagreements 143

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 16

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 109

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

Predictors split 17

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

All XIAP variants

Pathogenic 56

  • p.Arg222Ter Multiple submitters Inborn genetic diseases
  • p.Arg381Ter Multiple submitters XIAP-related disorder
  • p.Asn341fs Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Asp130fs Multiple submitters Inborn genetic diseases
  • p.Glu337Ter Multiple submitters XIAP-related disorder
  • p.Lys299fs Multiple submitters XIAP-related disorder
  • p.Pro37fs Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Tyr115Ter Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Tyr329fs Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1057-2A>G Single submitter
  • c.1057-600_1300+79del Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.978-2A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.-10_977+11del Single submitter lymphoproliferative syndrome 2
  • p.Ala165fs Single submitter
  • p.Arg124fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Arg222fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Arg238Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Arg49Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Asn252fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Asn255fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Asn280fs Single submitter
  • p.Gln199Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gln319Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gln372Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Glu211Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Glu21fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Glu22Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Glu350Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Glu439Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gly204fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gly76fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Leu141fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Leu331fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Leu348fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Phe462fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ser150fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ser150Ter Single submitter X-linked sideroblastic anemia 1
  • p.Ser278Ter Single submitter XIAP-related disorder
  • p.Ser45Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Thr308fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Thr363fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Trp173Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Trp317Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Trp323Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Trp73Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Tyr139fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Tyr161fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Tyr190fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Tyr338fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Val487fs Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Cys203Tyr No assertion criteria X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Glu118Ter No assertion criteria X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Glu99fs No assertion criteria X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Leu189Pro No assertion criteria X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Pro225fs No assertion criteria X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Trp217fs No assertion criteria X-linked lymphoproliferative disease due to XIAP deficiency

Pathogenic/Likely pathogenic 1

  • p.Gly205del Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency

Likely pathogenic 17

  • p.His220Tyr Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1056+2T>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1057-1G>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1099+2T>C Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.877+1G>C Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.977+1G>A Single submitter XIAP-related disorder
  • c.-32-5232_878-647del Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Asn100fs Single submitter
  • p.Gln333Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gln418Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gln440Ter Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gly288Ter Single submitter autoinflammatory syndrome
  • p.Ile494Asn Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Lys480Ter Single submitter XIAP-related disorder
  • p.Phe228fs Single submitter XIAP-related disorder
  • p.Tyr485Ter Single submitter XIAP-related disorder
  • p.Val415fs Single submitter

Conflicting classifications of pathogenicity 21

  • c.1301-1G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Arg49Gln Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Arg62Trp Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asp367Gly Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Glu25Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu282Lys Single submitter autoinflammatory syndrome ⚠
  • p.Glu350del Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Glu99Gly Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Gly188Arg Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Gly326= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gly39Cys Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ile149Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro181Leu Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Pro257Ala Single submitter autoinflammatory syndrome ⚠
  • p.Pro260Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ser123Asn Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Thr103Met Single submitter Inborn genetic diseases ⚠
  • p.Thr152Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Thr359Ala Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Thr470Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Val230Ile Single submitter Inborn genetic diseases ⚠

Benign 68

  • c.1100-116A>G Multiple submitters
  • c.-43C>T Multiple submitters
  • c.*1393G>A Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*1676T>C Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*1958G>A Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*2674A>C Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*2845C>T Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3383T>C Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3642T>G Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*4015A>G Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*4078C>A Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*4188T>C Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*4610C>T Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*4884C>T Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*4889T>C Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5241A>T Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5505G>A Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5506T>A Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5892T>G Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*6251C>T Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*6422T>A Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*803G>T Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*80G>C Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Leu410= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1057-7G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1100-8del Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1300+7A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.878-5C>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.977+286T>C Single submitter
  • c.*1298G>C Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*2622G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*2682T>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*2729C>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*2944C>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3040G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3572A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3611C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3707T>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*4024C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*4092G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*4149A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*4380G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*4658C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*482G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5010A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5069A>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5140C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5295A>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5331G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5368C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5756C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5796C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*579G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5870G>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*6357G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*6549C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*6566G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Asn119Lys Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.His178Tyr Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.His343Asn Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ile269Met Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ile380Val Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ile399Arg Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Leu348Phe Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Lys433= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Pro312Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Pro374= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ser45Leu Single submitter X-linked lymphoproliferative disease due to XIAP deficiency

Benign/Likely benign 18

  • c.1056+13_1056+14del Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1056+19A>T Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1099+20A>G Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1100-19T>G Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.878-5C>T Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*12A>G Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ala321Gly Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Asn157= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gln398His Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gln423Pro Multiple submitters autoinflammatory syndrome
  • p.Gly305= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gly8Glu Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ile366Val Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Leu167= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Lys311= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Lys472= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Phe92= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Thr103= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency

Likely benign 75

  • c.1100-14A>C Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Asn100= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Asp479= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gly273= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ile370= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ile397Met Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Leu414= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Lys328= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Tyr290= Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1056+10A>G Single submitter
  • c.1056+13T>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1056+21_1056+22del Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1056+28_1056+60dup Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1057-13A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1057-20A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1100-14A>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1300+10G>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1300+12T>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1300+17T>C Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1301-17A>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1301-20A>C Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.1301-6_1301-5del Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.877+8_877+9del Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.878-4G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.977+19C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.978-6G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ala291= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ala417= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Arg222= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Arg268= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Arg381= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Asn259= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Asp196= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Asp367= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Cys202= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Cys351= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Cys484= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gln145His Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Glu164Gly Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Glu183= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Glu357= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Glu438= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gly109= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gly383= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gly56= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gly95Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.His136= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.His83= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ile460= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Leu179= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Leu207= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Leu30= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Leu344= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Leu441= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Lys299= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Lys419= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Phe6= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Pro155= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Pro257= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ser123= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ser162= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ser246= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ser40= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ser402= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ser65= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ser87= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Thr274= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Thr60= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Tyr115= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Val146= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Val24= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Val469= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Val61= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5178_*5180del No assertion criteria XIAP-related disorder
  • p.Ile389= No assertion criteria XIAP-related disorder

Uncertain significance 173

  • p.Ala137Gly Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ala68Val Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ala79Thr Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Arg233Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg238Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg443Cys Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Arg62Gln Multiple submitters XIAP-related disorder ⚠
  • p.Arg91Lys Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asn107Ser Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asn280His Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asn280Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln104Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Glu211Lys Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Glu476Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly76Ala Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ile149Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile397Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu307Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met160Val Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Phe228Cys Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ser246Phe Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ser385Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser385Gly Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ser421Asn Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Thr486fs Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Tyr161Cys Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Tyr485Cys Multiple submitters X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • c.977+3A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.977+4A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.978-10_978-4del Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.978-4_978-3insA Single submitter
  • c.978-9A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.-142G>C Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*10A>G Single submitter autoinflammatory syndrome
  • c.*1481C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*1705A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*1869G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*1904G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*1940T>C Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*1950C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*2401C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*2488C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*2521A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*253C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*2901T>C Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3001T>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3201A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3205T>C Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3408G>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3544G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3547C>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3573G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3589A>C Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3673C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3845A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*3997A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*4307_*4309dup Single submitter
  • c.*4336T>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*4691G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*5986G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*6009C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*6010G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*6211C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*6216G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*6220C>T Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*6221G>A Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*6256T>C Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*866A>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*870G>C Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • c.*93T>G Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Ala137Val Single submitter Inborn genetic diseases ⚠
  • p.Ala15Thr Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ala263Thr Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ala379Thr Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ala412Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ala477Thr Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Arg142Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg182Gly Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Arg215Cys Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Arg215Ser Single submitter ⚠
  • p.Arg221Ser Single submitter ⚠
  • p.Arg233Gln Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Arg238Leu Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Arg248Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Arg268Trp Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Arg354del Single submitter
  • p.Arg364Gly Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Arg381Gln Single submitter ⚠
  • p.Arg443His Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Arg84Thr Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Arg91Gly Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asn100Asp Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asn18Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asn249Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asn252Asp Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asn259Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asn28Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn340Lys Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asn341Lys Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asn35Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asn403Asp Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asn89Asp Single submitter Inborn genetic diseases ⚠
  • p.Asp214Asn Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asp214Gly Single submitter ⚠
  • p.Asp242Val Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asp296Gly Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asp367Asn Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asp413Asn Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asp420Gly Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Asp479Asn Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Cys200Phe Single submitter ⚠
  • p.Cys202Tyr Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Cys227Arg Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Cys327Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Cys453Tyr Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Cys66Tyr Single submitter ⚠
  • p.Gln440Leu Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Glu164Asp Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Glu211Gly Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Glu21Lys Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Glu282Gln Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Glu350Lys Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Glu408Gly Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Glu439Asp Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Glu57= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Gly113Arg Single submitter ⚠
  • p.Gly144Arg Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Gly401Glu Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.His126Asp Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.His220Arg Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.His220Gln Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.His223Arg Single submitter Inborn genetic diseases ⚠
  • p.His223Tyr Single submitter
  • p.Ile153Met Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ile194Asn Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ile269Leu Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ile339Val Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ile370Val Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Leu231= Single submitter X-linked lymphoproliferative disease due to XIAP deficiency
  • p.Leu47Pro Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Lys206_Lys208delinsGln Single submitter
  • p.Lys311Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys322Arg Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Lys328Arg Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Lys358Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys433Glu Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Met393Ile Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Met422Val Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Phe170Tyr Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Phe228Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Pro14Thr Single submitter ⚠
  • p.Pro155Leu Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Pro225Arg Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Pro374Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Pro464Ser Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ser239Asn Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ser241Phe Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ser385Cys Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Ser87Phe Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Thr143Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr2Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr356Ala Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Thr369Ala Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Thr437Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr486Ala Single submitter ⚠
  • p.Tyr120Cys Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Tyr139Cys Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Val353Ala Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Val42Ile Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Val461Ile Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Val61Met Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Val70Gly Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠
  • p.Val80Ala Single submitter X-linked lymphoproliferative disease due to XIAP deficiency ⚠