ZAP70 — 564 ClinVar variants

All ClinVar germline ZAP70 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 185 flagged for review →

24 Pathogenic · 1 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 21 Conflicting · 19 Benign · 16 Benign/Likely benign · 252 Likely benign · 218 Uncertain significance

Full ZAP70 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 185

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

Predictors vs ClinVar 1

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

ZAP70 p.Pro95Ser Pathogenic Single submitter
combined immunodeficiency

Predictors agree, ClinVar conflicts 7

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

ZAP70 p.Arg192Trp Conflicting Single submitter
combined immunodeficiency
ZAP70 p.Arg583His Conflicting Single submitter
ZAP70 p.Asp327Glu Conflicting Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Gly245Arg Conflicting Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ile342Thr Conflicting Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Pro502Leu Conflicting Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ser497Leu Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 118

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

ZAP70 p.Ala297Val Uncertain significance Multiple submitters
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ala340Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Arg360Cys Uncertain significance Multiple submitters
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Arg385Cys Uncertain significance Multiple submitters
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Arg460Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Arg519Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Arg519His Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Asp574Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Glu174Lys Uncertain significance Multiple submitters
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Gly428Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Gly609Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.His279Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Ile368Asn Uncertain significance Multiple submitters
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Leu410Val Uncertain significance Multiple submitters
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Met447Val Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Met549Val Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Pro110Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Pro305Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Pro307Leu Uncertain significance Multiple submitters
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Pro584Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Ser599Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Ser610Asn Uncertain significance Multiple submitters
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Thr207Met Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Thr380Met Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Thr611Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Tyr397Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Val314Met Uncertain significance Multiple submitters
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ala181Gly Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ala272Gly Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ala27Thr Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Ala340Gly Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ala407Gly Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ala409Ser Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ala409Val Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ala463Val Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ala601Thr Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ala614Pro Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ala6Thr Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ala6Val Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ala76Val Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Arg160Gln Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Arg17Leu Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Arg37Ser Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Arg400Trp Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Arg430Lys Uncertain significance Single submitter
ZAP70-related disorder
ZAP70 p.Arg460His Uncertain significance Single submitter
ZAP70 p.Arg465His Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Arg465Pro Uncertain significance Single submitter
ZAP70 p.Arg472Gln Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Arg496His Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Arg583Cys Uncertain significance Single submitter
ZAP70 p.Arg89Cys Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Asn395His Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Asn66Ser Uncertain significance Single submitter
ZAP70 p.Asp230Val Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Asp285Asn Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Asp327Asn Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Asp365Gly Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Asp479Asn Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Asp490Asn Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Asp585Asn Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Asp90Glu Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Cys405Tyr Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Gln129Pro Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Gln215Glu Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Gln554Glu Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Glu136Lys Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Glu237Gly Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Glu252Lys Uncertain significance Single submitter
ZAP70 p.Glu376Lys Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Glu386Lys Uncertain significance Single submitter
ZAP70 p.Glu432Val Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Glu531Lys Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Glu563Lys Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Gly13Cys Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Gly185Ser Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Gly419Ser Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Gly45Arg Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Gly606Glu Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Gly67Cys Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.His57Tyr Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.His7Gln Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ile339Lys Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Ile402Thr Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ile577Leu Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Leu118Pro Uncertain significance Single submitter
ZAP70 p.Leu337Arg Uncertain significance Single submitter
ZAP70 p.Lys613Asn Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Met558Thr Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Phe425Tyr Uncertain significance Single submitter
ZAP70 p.Phe457Ser Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Phe586Ser Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Phe59Leu Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Pro110Ser Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Pro191Leu Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Pro268Ser Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Pro305Ser Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Pro421Leu Uncertain significance Single submitter
ZAP70 p.Pro607Ser Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Pro60Leu Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Pro80Gln Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Pro9Ala Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ser214Asn Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Ser260Ile Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Ser260Thr Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Ser436Thr Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Ser478Gly Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ser49Pro Uncertain significance Single submitter
ZAP70 p.Thr276Met Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Thr278Ile Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Thr375Met Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Thr611Ser Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Val404Ile Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Val445Met Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Val467Ile Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Val470Gly Uncertain significance Single submitter
ZAP70 p.Val47Glu Uncertain significance Single submitter
ZAP70 p.Val548Gly Uncertain significance No assertion criteria

Predictors split 59

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

ZAP70 p.Ala146Val Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Ala27Glu Uncertain significance Multiple submitters
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Arg175Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Arg472Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Gln64His Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Glu567Lys Uncertain significance Multiple submitters
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.His158Gln Uncertain significance Multiple submitters
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Leu200Val Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Leu330Phe Uncertain significance Multiple submitters
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Pro224Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ZAP70 p.Ser313Arg Likely benign Multiple submitters
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Thr231Met Uncertain significance Multiple submitters
autoimmune disease, multisystem, infantile-onset, 2
ZAP70 p.Ala141Gly Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ala199Thr Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Arg175Cys Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Arg360Pro Conflicting Single submitter
combined immunodeficiency
ZAP70 p.Arg514Cys Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Arg592Cys Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Arg592His Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Arg594Gly Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Asn456Lys Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Asp3His Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Asp490His Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Cys102Gly Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Cys254Ser Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Gln148His Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Glu237Asp Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Glu382Lys Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Glu440Lys Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Glu62Gly Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Gly13Arg Conflicting Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Gly219Ser Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Gly291Arg Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Gly419Asp Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ile203Asn Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ile203Thr Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ile477Val Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ile61Met Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Leu325Phe Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Lys372Thr Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Lys424Asn Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Met122Ile Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Met308Ile Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Met359Leu Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Met414Val Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Met447Thr Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Met593Thr Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Pro101Gln Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Pro147Leu Uncertain significance Single submitter
autoimmune disease, multisystem, infantile-onset, 2
ZAP70 p.Pro546Leu Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Ser106Trp Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Thr155Met Benign Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Thr156Arg Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Thr169Met Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Thr231Lys Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Tyr126Ser Uncertain significance Single submitter
Inborn genetic diseases
ZAP70 p.Val127Ala Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Val438Leu Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency
ZAP70 p.Val589Met Uncertain significance Single submitter
combined immunodeficiency due to ZAP70 deficiency

All ZAP70 variants

Pathogenic 24

c.1624-11G>A Multiple submitters ZAP70-related disorder
c.703-1G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Arg282fs Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Arg283Ter Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Asp379fs Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Cys249Ter Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Cys39Ter Single submitter
p.Cys84Ter Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Glu159Ter Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Glu415fs Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Gly420fs Single submitter combined immunodeficiency due to ZAP70 deficiency
p.His165fs Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ile511fs Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu410fs Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Lys484Ter Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Lys504fs Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Met416fs Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro307fs Single submitter
p.Pro95Ser Single submitter combined immunodeficiency ⚠
p.Trp131Ter Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Tyr506Ter Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Tyr87Ter Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Val427fs Single submitter
p.Ser518Arg No assertion criteria combined immunodeficiency due to ZAP70 deficiency

Pathogenic/Likely pathogenic 1

p.Arg37Gly Multiple submitters severe combined immunodeficiency

Likely pathogenic 13

p.Arg465Cys Multiple submitters autoimmune disease, multisystem, infantile-onset, 2
c.1083-1G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.402+1G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.791-1G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.890-1_891del Single submitter combined immunodeficiency due to ZAP70 deficiency
c.890-1G>C Single submitter
p.Asp521Asn Single submitter severe combined immunodeficiency
p.Cys560Tyr Single submitter
p.Cys564Arg Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Gly355= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Met29fs Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ser289Ter Single submitter ZAP70-related disorder
p.Trp505Ter Single submitter ZAP70-related disorder

Conflicting classifications of pathogenicity 21

c.1082+8C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1289+10G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1624-12C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1737-3C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala463= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Arg192Trp Single submitter combined immunodeficiency ⚠
p.Arg360Pro Single submitter combined immunodeficiency ⚠
p.Arg583His Single submitter ⚠
p.Asp327Glu Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Asp489= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Gly13Arg Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Gly245Arg Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.His52= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ile342Thr Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ile552= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu202= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro502Leu Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Pro539= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ser313= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ser497Leu Single submitter Inborn genetic diseases ⚠
p.Thr276= Single submitter combined immunodeficiency due to ZAP70 deficiency

Benign 19

c.1289+67T>C Multiple submitters
c.1290-89C>T Multiple submitters
c.1737-224C>G Multiple submitters
c.402+294C>T Multiple submitters
c.889+288C>T Multiple submitters
c.889+43A>C Multiple submitters
c.890-16C>T Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.-101+81A>G Multiple submitters
c.-186C>A Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.-21-115A>C Multiple submitters
c.-59T>C Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.*289G>C Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.*29G>A Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Leu35= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.1290-11del Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1737-162_1737-161del Single submitter
c.-100-100_-100-93del Single submitter
c.-91T>A Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Thr155Met Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠

Benign/Likely benign 16

c.1482+11G>T Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.1623+7G>A Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.1737-15C>T Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.563+13C>G Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.790+19C>T Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.790+20G>A Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Asp244= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Glu171Gly Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Glu559= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.His158= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Leu177= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Leu270= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Pro224= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Pro546= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Tyr535= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Val149= Multiple submitters combined immunodeficiency due to ZAP70 deficiency

Likely benign 252

c.1082+15G>A Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.1083-19C>G Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.1083-7C>T Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.1290-11C>T Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.1290-16T>C Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.1623+9G>A Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.1624-13C>T Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.1737-10C>T Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.1737-9G>A Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.402+219A>G Multiple submitters
c.702+12G>A Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.702+17A>C Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.702+9C>A Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.790+12_790+15dup Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.889+7G>A Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.-177C>A Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Ala18= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Ala439= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Ala488= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Arg385= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Asp574= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Glu252= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Leu371= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Pro191= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Pro566= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Ser258= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Ser313Arg Multiple submitters combined immunodeficiency due to ZAP70 deficiency ⚠
p.Thr183= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Thr227= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Thr588= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Tyr211= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Tyr451= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Tyr474= Multiple submitters Inborn genetic diseases
p.Tyr506= Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.1082+10C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1082+12C>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1082+16C>G Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1082+17C>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1082+18G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1082+9G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1083-17G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1083-18C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1083-20C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1083-4G>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1289+10G>C Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1289+13T>G Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1289+19C>G Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1289+19C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1289+20G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1289+20G>C Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1289+20G>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1289+8C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1289+9C>G Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1289+9C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1290-10G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1290-18C>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1290-19G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1290-20C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1290-5C>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1290-9C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1482+7C>G Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1623+8C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1624-15C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1624-18_1624-17del Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1624-4G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1736+18G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1736+19G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1736+20G>C Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1736+8C>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1737-6C>T Single submitter
c.1737-8C>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.402+20C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.402+8C>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.403-11_403-10del Single submitter combined immunodeficiency due to ZAP70 deficiency
c.563+11C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.563+13C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.563+16G>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.563+8G>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.563+93C>T Single submitter
c.564-13C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.564-18C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.564-19C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.702+11C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.703-4G>C Single submitter combined immunodeficiency due to ZAP70 deficiency
c.703-6C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.703-8C>G Single submitter combined immunodeficiency due to ZAP70 deficiency
c.703-9T>C Single submitter combined immunodeficiency due to ZAP70 deficiency
c.790+16G>A Single submitter
c.790+16G>C Single submitter combined immunodeficiency due to ZAP70 deficiency
c.790+18G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.791-12C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.791-14T>G Single submitter combined immunodeficiency due to ZAP70 deficiency
c.791-16C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.791-17C>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.791-17C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.791-6C>T Single submitter
c.837+14del Single submitter combined immunodeficiency due to ZAP70 deficiency
c.837+17T>C Single submitter combined immunodeficiency due to ZAP70 deficiency
c.837+9G>T Single submitter
c.838-14C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.838-99C>T Single submitter
c.889+14G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.889+14G>C Single submitter combined immunodeficiency due to ZAP70 deficiency
c.889+15G>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.889+20G>C Single submitter combined immunodeficiency due to ZAP70 deficiency
c.889+8G>C Single submitter combined immunodeficiency due to ZAP70 deficiency
c.890-12G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.890-14C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.890-8G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.-100-14G>A Single submitter
c.*12C>G Single submitter
c.*6C>T Single submitter
p.Ala137= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala141= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala173= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala181= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala199= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala243= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala259= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala262= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala27= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala30= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala340= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala367= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala409= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala464= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala498= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala550= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala72= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Arg104= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Arg119= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Arg192= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Arg306= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Arg334= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Arg353= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Arg400= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Arg472= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Arg89= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Asn261= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Asn456= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Asn466= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Asp120= Single submitter
p.Asp327= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Asp341= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Asp379= Single submitter
p.Asp53= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Asp92= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Cys405= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Gln145= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Glu22= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Glu323= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Glu343= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Glu408= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Glu531= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Glu553= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Glu563= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Gly180= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Gly291= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Gly419= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Gly428= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Gly481= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Gly536= Single submitter
p.Gly545= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Gly606= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Gly73= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Gly93= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ile213= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ile284= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ile339Val Single submitter Inborn genetic diseases
p.Ile342= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ile364= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ile433= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ile477= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu108= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu118= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu168= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu189= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu212= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu232= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu287= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu330= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu338Phe Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu393= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu426= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu43= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu442= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu468= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu503= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu568= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Leu600= Single submitter
p.Lys176= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Lys186= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Lys206= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Lys251= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Lys329= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Lys476= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Lys484= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Phe115= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Phe425= Single submitter
p.Phe457= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Phe551= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Phe59= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro105= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro110= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro112= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro2= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro268= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro294= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro305= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro318= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro322= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro421= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro502= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro508= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro584= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro60= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Pro91= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ser106= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ser16= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ser179= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ser478= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ser520= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ser599= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ser88= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Thr130= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Thr156= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Thr197= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Thr207= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Thr231= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Thr312= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Thr375= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Thr380= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Thr611= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Tyr198= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Tyr238= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Tyr292= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Tyr492= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Tyr493= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Tyr569= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Tyr69= Single submitter
p.Val114= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Val123= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Val208= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Val356= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Val370= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Val427= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Val435= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Val445= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Val467= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Val54= Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1083-13_1083-10dup No assertion criteria ZAP70-related disorder
p.Gln537= No assertion criteria ZAP70-related disorder

Uncertain significance 218

c.1083-3C>A Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.403-3T>C Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.790+6G>A Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.837+6T>C Multiple submitters combined immunodeficiency due to ZAP70 deficiency
c.889+6C>T Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Ala146Val Multiple submitters Inborn genetic diseases ⚠
p.Ala27Glu Multiple submitters combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ala297Val Multiple submitters combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ala340Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg175Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg360Cys Multiple submitters combined immunodeficiency due to ZAP70 deficiency ⚠
p.Arg385Cys Multiple submitters combined immunodeficiency due to ZAP70 deficiency ⚠
p.Arg460Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg472Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg519Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg519His Multiple submitters Inborn genetic diseases ⚠
p.Asp574Asn Multiple submitters Inborn genetic diseases ⚠
p.Gln64His Multiple submitters Inborn genetic diseases ⚠
p.Glu174Lys Multiple submitters combined immunodeficiency due to ZAP70 deficiency ⚠
p.Glu567Lys Multiple submitters combined immunodeficiency due to ZAP70 deficiency ⚠
p.Gly428Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly609Ser Multiple submitters Inborn genetic diseases ⚠
p.His158Gln Multiple submitters combined immunodeficiency due to ZAP70 deficiency ⚠
p.His279Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ile368Asn Multiple submitters combined immunodeficiency due to ZAP70 deficiency ⚠
p.Leu200Val Multiple submitters Inborn genetic diseases ⚠
p.Leu330Phe Multiple submitters combined immunodeficiency due to ZAP70 deficiency ⚠
p.Leu410Val Multiple submitters combined immunodeficiency due to ZAP70 deficiency ⚠
p.Lys613Ter Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Met447Val Multiple submitters Inborn genetic diseases ⚠
p.Met549Val Multiple submitters Inborn genetic diseases ⚠
p.Phe425Cys Multiple submitters combined immunodeficiency due to ZAP70 deficiency
p.Pro110Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro224Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro305Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro307Leu Multiple submitters combined immunodeficiency due to ZAP70 deficiency ⚠
p.Pro584Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser599Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser610Asn Multiple submitters combined immunodeficiency due to ZAP70 deficiency ⚠
p.Thr207Met Multiple submitters Inborn genetic diseases ⚠
p.Thr231Met Multiple submitters autoimmune disease, multisystem, infantile-onset, 2 ⚠
p.Thr312Met Multiple submitters Inborn genetic diseases
p.Thr380Met Multiple submitters Inborn genetic diseases ⚠
p.Thr611Ile Multiple submitters Inborn genetic diseases ⚠
p.Tyr397Cys Multiple submitters Inborn genetic diseases ⚠
p.Val314Met Multiple submitters combined immunodeficiency due to ZAP70 deficiency ⚠
c.1083-11G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1289+4A>G Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1623+5G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1736+5G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.1737-7C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.402+3G>A Single submitter
c.402+4A>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.402+5G>C Single submitter combined immunodeficiency due to ZAP70 deficiency
c.402+6A>G Single submitter combined immunodeficiency due to ZAP70 deficiency
c.563+4T>G Single submitter combined immunodeficiency due to ZAP70 deficiency
c.790+15C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.790+5C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.791-3C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.-133C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.-217G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.*11C>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.*161G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.*228G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.*274G>A Single submitter combined immunodeficiency due to ZAP70 deficiency
c.*328C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
c.*48C>T Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala141Gly Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ala181Gly Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ala199Thr Single submitter Inborn genetic diseases ⚠
p.Ala243Val Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ala272Gly Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ala27Thr Single submitter Inborn genetic diseases ⚠
p.Ala340Gly Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ala407Gly Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ala409Ser Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ala409Val Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ala463Val Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ala601Thr Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ala614Pro Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ala6Thr Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ala6Val Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ala76Val Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Arg160Gln Single submitter Inborn genetic diseases ⚠
p.Arg175Cys Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Arg17Leu Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Arg334His Single submitter Inborn genetic diseases
p.Arg37Ser Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Arg400Trp Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Arg430Lys Single submitter ZAP70-related disorder ⚠
p.Arg460His Single submitter ⚠
p.Arg465His Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Arg465Pro Single submitter ⚠
p.Arg472Gln Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Arg496His Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Arg514Cys Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Arg583Cys Single submitter ⚠
p.Arg592Cys Single submitter Inborn genetic diseases ⚠
p.Arg592His Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Arg594Gly Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Arg594Ter Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Arg89Cys Single submitter Inborn genetic diseases ⚠
p.Asn395His Single submitter Inborn genetic diseases ⚠
p.Asn456Lys Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Asn66Ser Single submitter ⚠
p.Asp184Asn Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Asp230Val Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Asp285Asn Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Asp327Asn Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Asp365Gly Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Asp3His Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Asp479Asn Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Asp490Asn Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Asp490His Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Asp585Asn Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Asp90Glu Single submitter Inborn genetic diseases ⚠
p.Cys102Gly Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Cys254Ser Single submitter Inborn genetic diseases ⚠
p.Cys346Arg Single submitter Inborn genetic diseases
p.Cys405Tyr Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Gln129Pro Single submitter Inborn genetic diseases ⚠
p.Gln148His Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Gln215Glu Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Gln392His Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Gln554Glu Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Glu136Lys Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Glu172= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Glu237Asp Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Glu237Gly Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Glu252Lys Single submitter ⚠
p.Glu376Lys Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Glu382Lys Single submitter Inborn genetic diseases ⚠
p.Glu386Lys Single submitter ⚠
p.Glu432Val Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Glu440Lys Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Glu531Lys Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Glu563Lys Single submitter Inborn genetic diseases ⚠
p.Glu62Gly Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Gly13Cys Single submitter Inborn genetic diseases ⚠
p.Gly185Ser Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Gly219Ser Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Gly291Arg Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Gly419Asp Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Gly419Ser Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Gly45Arg Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Gly606Glu Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Gly67Cys Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.His57Tyr Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.His7Gln Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ile203Asn Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ile203Thr Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ile339Lys Single submitter Inborn genetic diseases ⚠
p.Ile398Val Single submitter Inborn genetic diseases
p.Ile402Thr Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ile477Val Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ile577Leu Single submitter Inborn genetic diseases ⚠
p.Ile61Met Single submitter Inborn genetic diseases ⚠
p.Leu118Pro Single submitter ⚠
p.Leu325Phe Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Leu337Arg Single submitter ⚠
p.Lys372Thr Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Lys424Asn Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Lys541= Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Lys613Asn Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Met122Ile Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Met308Ile Single submitter Inborn genetic diseases ⚠
p.Met359Leu Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Met414Val Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Met447Ile Single submitter Inborn genetic diseases
p.Met447Thr Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Met558Thr Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Met593Thr Single submitter Inborn genetic diseases ⚠
p.Phe425Tyr Single submitter ⚠
p.Phe457Ser Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Phe586Ser Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Phe59Leu Single submitter Inborn genetic diseases ⚠
p.Pro101Gln Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Pro110Ser Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Pro147Leu Single submitter autoimmune disease, multisystem, infantile-onset, 2 ⚠
p.Pro191Leu Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Pro268Ser Single submitter Inborn genetic diseases ⚠
p.Pro305Ser Single submitter Inborn genetic diseases ⚠
p.Pro421Leu Single submitter ⚠
p.Pro546Leu Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Pro607Ser Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Pro60Leu Single submitter Inborn genetic diseases ⚠
p.Pro80Gln Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Pro9Ala Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ser106Trp Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ser16Pro Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Ser214Asn Single submitter Inborn genetic diseases ⚠
p.Ser260Ile Single submitter Inborn genetic diseases ⚠
p.Ser260Thr Single submitter Inborn genetic diseases ⚠
p.Ser436Thr Single submitter Inborn genetic diseases ⚠
p.Ser478Gly Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Ser49Pro Single submitter ⚠
p.Thr156Arg Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Thr169Met Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Thr197Ile Single submitter
p.Thr231Lys Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Thr276Met Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Thr278Ile Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Thr375Met Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Thr611Ser Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Thr68Ser Single submitter combined immunodeficiency due to ZAP70 deficiency
p.Tyr126Ser Single submitter Inborn genetic diseases ⚠
p.Tyr598Cys Single submitter Inborn genetic diseases
p.Val127Ala Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Val404Ile Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Val438Leu Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Val445Met Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Val467Ile Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Val470Gly Single submitter ⚠
p.Val47Glu Single submitter ⚠
p.Val51Ala Single submitter Inborn genetic diseases
p.Val589Met Single submitter combined immunodeficiency due to ZAP70 deficiency ⚠
p.Met1Ile No assertion criteria
p.Val548Gly No assertion criteria ⚠