WAS — 726 ClinVar variants

All ClinVar germline WAS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 211 flagged for review →

136 Pathogenic · 11 Pathogenic/Likely pathogenic · 56 Likely pathogenic · 37 Conflicting · 24 Benign · 21 Benign/Likely benign · 227 Likely benign · 214 Uncertain significance

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

⚑ Evidence disagreements 211

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 6

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

WAS p.Asp224Gly Pathogenic/Likely pathogenic Multiple submitters
Wiskott-Aldrich syndrome
WAS p.Gly187Cys Likely pathogenic Single submitter
WAS-related disorder
WAS p.Pro58His Likely pathogenic Single submitter
WAS p.Pro58Ser Likely pathogenic Single submitter
WAS p.Pro58Thr Pathogenic Single submitter
X-linked severe congenital neutropenia
WAS p.Pro58Arg Pathogenic No assertion criteria
THROMBOCYTOPENIA, X-LINKED, INTERMITTENT

Predictors agree, ClinVar conflicts 19

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

WAS p.Ala198Val Conflicting Single submitter
Inborn genetic diseases
WAS p.Ala350Val Conflicting Single submitter
Inborn genetic diseases
WAS p.Arg138Gln Conflicting Single submitter
X-linked severe congenital neutropenia
WAS p.Arg13Gln Conflicting Single submitter
thrombocytopenia 1
WAS p.Arg213His Conflicting Single submitter
Inborn genetic diseases
WAS p.Arg268Gln Conflicting Single submitter
X-linked severe congenital neutropenia
WAS p.Asp296Asn Conflicting Single submitter
Wiskott-Aldrich syndrome
WAS p.Asp77Gly Conflicting Single submitter
WAS-related disorder
WAS p.Gln255His Conflicting Single submitter
Inborn genetic diseases
WAS p.Gly334Asp Conflicting Single submitter
thrombocytopenia 1
WAS p.Gly89Asp Conflicting Single submitter
thrombocytopenia 1
WAS p.His180Asn Conflicting Single submitter
X-linked severe congenital neutropenia
WAS p.Leu415Pro Conflicting Single submitter
Inborn genetic diseases
WAS p.Met307Val Conflicting Single submitter
Bleeding and platelet disorders
WAS p.Met6Val Conflicting Single submitter
thrombocytopenia 1
WAS p.Pro175Leu Conflicting Single submitter
thrombocytopenia 1
WAS p.Pro403Leu Conflicting Single submitter
WAS-related disorder
WAS p.Pro427Leu Conflicting Single submitter
thrombocytopenia 1
WAS p.Ser463Leu Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 126

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

WAS p.Ala129Pro Uncertain significance Multiple submitters
thrombocytopenia 1
WAS p.Arg268Pro Uncertain significance Multiple submitters
thrombocytopenia 1
WAS p.Arg321Gln Uncertain significance Multiple submitters
thrombocytopenia 1
WAS p.Arg328Gln Uncertain significance Multiple submitters
Inborn genetic diseases
WAS p.Arg357Gln Uncertain significance Multiple submitters
X-linked severe congenital neutropenia
WAS p.Arg431Trp Uncertain significance Multiple submitters
X-linked severe congenital neutropenia
WAS p.Arg94Gln Uncertain significance Multiple submitters
Inborn genetic diseases
WAS p.Asp264Asn Uncertain significance Multiple submitters
Wiskott-Aldrich syndrome
WAS p.Asp489Gly Uncertain significance Multiple submitters
Inborn genetic diseases
WAS p.Gln19His Uncertain significance Multiple submitters
X-linked severe congenital neutropenia
WAS p.Gln325His Uncertain significance Multiple submitters
X-linked severe congenital neutropenia
WAS p.Gln440Lys Uncertain significance Multiple submitters
thrombocytopenia 1
WAS p.Glu464Gly Uncertain significance Multiple submitters
thrombocytopenia 1
WAS p.Glu486Lys Uncertain significance Multiple submitters
X-linked severe congenital neutropenia
WAS p.Glu98Lys Uncertain significance Multiple submitters
Wiskott-Aldrich syndrome
WAS p.Gly183Arg Uncertain significance Multiple submitters
thrombocytopenia 1
WAS p.Gly333Ala Uncertain significance Multiple submitters
Wiskott-Aldrich syndrome
WAS p.Ile238Thr Uncertain significance Multiple submitters
X-linked severe congenital neutropenia
WAS p.Ile331Phe Uncertain significance Multiple submitters
thrombocytopenia 1
WAS p.Leu44Val Uncertain significance Multiple submitters
WAS-related disorder
WAS p.Leu55Pro Uncertain significance Multiple submitters
thrombocytopenia 1
WAS p.Pro178Leu Uncertain significance Multiple submitters
thrombocytopenia 1
WAS p.Pro23Arg Uncertain significance Multiple submitters
thrombocytopenia 1
WAS p.Pro402Leu Uncertain significance Multiple submitters
X-linked severe congenital neutropenia
WAS p.Thr282Ala Uncertain significance Multiple submitters
Inborn genetic diseases
WAS p.Val420Ala Uncertain significance Multiple submitters
X-linked severe congenital neutropenia
WAS p.Ala124Glu Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Ala139Asp Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Ala17Ser Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Ala198Gly Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Ala217Glu Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Ala374Thr Uncertain significance Single submitter
Inborn genetic diseases
WAS p.Ala418Thr Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Ala433Val Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Ala455Val Uncertain significance Single submitter
WAS p.Ala92Thr Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Arg151Lys Uncertain significance Single submitter
WAS p.Arg156Thr Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Arg171Lys Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Arg227His Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Arg273Met Uncertain significance Single submitter
WAS p.Arg273Ser Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Arg309His Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Arg364Gln Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Arg377His Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Arg439Pro Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Arg477Thr Uncertain significance Single submitter
WAS p.Asn21Ile Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Asn32Lys Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Asp130Asn Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Asp201Asn Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Asp224Asn Uncertain significance Single submitter
Inborn genetic diseases
WAS p.Asp497Gly Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Cys73Ser Uncertain significance Single submitter
thrombocytopenia
WAS p.Gln146Lys Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Gln152His Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Gln185Leu Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Gln33Glu Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Gln437Pro Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Gln461Arg Uncertain significance Single submitter
Inborn genetic diseases
WAS p.Gln461Pro Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Gln52His Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Gln99Arg Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Gln99Pro Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Glu452Asp Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Glu486Asp Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Glu496Ala Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Gly183Glu Uncertain significance Single submitter
WAS p.Gly337Ser Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Gly379Arg Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Gly407Arg Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Gly423Arg Uncertain significance Single submitter
WAS p.Gly4Asp Uncertain significance Single submitter
WAS p.Gly8Arg Uncertain significance Single submitter
thrombocytopenia 1
WAS p.His115Arg Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.His249Gln Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Ile331Met Uncertain significance Single submitter
WAS p.Ile331Thr Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Ile85Asn Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Leu177Arg Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Leu267Arg Uncertain significance Single submitter
WAS p.Leu26Ile Uncertain significance Single submitter
Inborn genetic diseases
WAS p.Leu281Ile Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Leu326Pro Uncertain significance Single submitter
WAS p.Leu425Pro Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Leu434Phe Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Leu444Val Uncertain significance Single submitter
WAS p.Lys230Arg Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Lys232Arg Uncertain significance Single submitter
Inborn genetic diseases
WAS p.Lys232Met Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Lys76Thr Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Phe114Ile Uncertain significance Single submitter
WAS p.Pro10Ser Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Pro161Ala Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Pro161Gln Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Pro16Ala Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Pro176Ser Uncertain significance Single submitter
Inborn genetic diseases
WAS p.Pro181Leu Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro181Ser Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Pro220Ser Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro318Leu Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Pro356His Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Pro359Ser Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Pro359Thr Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Pro362Thr Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro392Thr Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Pro397Ala Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro448Leu Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro448Ser Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Pro460Arg Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Ser153Arg Uncertain significance Single submitter
Inborn genetic diseases
WAS p.Ser153Ile Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Ser194Pro Uncertain significance Single submitter
Inborn genetic diseases
WAS p.Ser269Cys Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Ser320Phe Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Ser320Pro Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Ser405Asn Uncertain significance Single submitter
WAS p.Ser453Thr Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Ser462Arg Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Ser462Gly Uncertain significance Single submitter
Inborn genetic diseases
WAS p.Thr25Ile Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Tyr107Ser Uncertain significance Single submitter
WAS p.Val18Ile Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Val50Asp Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Arg477Gly Uncertain significance No assertion criteria
Wiskott-Aldrich syndrome
WAS p.Asn149Tyr Uncertain significance No assertion criteria
Wiskott-Aldrich syndrome

Predictors split 60

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

WAS p.Arg309Cys Uncertain significance Multiple submitters
Wiskott-Aldrich syndrome
WAS p.Arg328Trp Uncertain significance Multiple submitters
Wiskott-Aldrich syndrome
WAS p.Arg377Cys Uncertain significance Multiple submitters
Inborn genetic diseases
WAS p.Arg41Gln Uncertain significance Multiple submitters
thrombocytopenia 1
WAS p.Pro316Thr Uncertain significance Multiple submitters
Wiskott-Aldrich syndrome
WAS p.Pro330Leu Uncertain significance Multiple submitters
thrombocytopenia 1
WAS p.Pro371Leu Uncertain significance Multiple submitters
thrombocytopenia 1
WAS p.Pro386Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WAS p.Pro397Leu Uncertain significance Multiple submitters
thrombocytopenia 1
WAS p.Pro416Leu Uncertain significance Multiple submitters
X-linked severe congenital neutropenia
WAS p.Ala236Thr Conflicting Single submitter
X-linked severe congenital neutropenia
WAS p.Arg138Trp Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Arg227Cys Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Arg357Trp Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Arg94Trp Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Asn204Tyr Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Asp259Asn Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Asp292Asn Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Asp77Asn Uncertain significance Single submitter
WAS p.Cys69Ser Conflicting Single submitter
Inborn genetic diseases
WAS p.Gln123His Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Gln135Pro Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Gln440Pro Conflicting Single submitter
X-linked severe congenital neutropenia
WAS p.Glu131Lys Conflicting Single submitter
X-linked severe congenital neutropenia
WAS p.Glu133Asp Pathogenic Single submitter
thrombocytopenia 1
WAS p.Glu306Lys Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Gly358Glu Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Gly389Asp Conflicting Single submitter
X-linked severe congenital neutropenia
WAS p.Gly429Arg Likely benign Single submitter
X-linked severe congenital neutropenia
WAS p.Gly430Val Uncertain significance Single submitter
WAS p.His68Arg Uncertain significance Single submitter
Inborn genetic diseases
WAS p.Met474Ile Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro112Arg Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro112His Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Pro316His Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro316Leu Uncertain significance Single submitter
Inborn genetic diseases
WAS p.Pro341Leu Conflicting Single submitter
Inborn genetic diseases
WAS p.Pro343Leu Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro354Gln Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro361His Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro361Thr Conflicting Single submitter
Wiskott-Aldrich syndrome
WAS p.Pro369Leu Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro371Thr Uncertain significance Single submitter
WAS p.Pro383Leu Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Pro384Ser Conflicting Single submitter
X-linked severe congenital neutropenia
WAS p.Pro385Ala Uncertain significance Single submitter
Inborn genetic diseases
WAS p.Pro394Leu Conflicting Single submitter
X-linked severe congenital neutropenia
WAS p.Pro395Ala Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro396Arg Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro396Gln Uncertain significance Single submitter
Inborn genetic diseases
WAS p.Pro399Arg Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro400Leu Conflicting Single submitter
thrombocytopenia 1
WAS p.Pro403Gln Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Pro410Arg Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Ser242Arg Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Ser24Pro Pathogenic Single submitter
X-linked severe congenital neutropenia
WAS p.Thr65Asn Uncertain significance Single submitter
thrombocytopenia 1
WAS p.Val141Met Uncertain significance Single submitter
X-linked severe congenital neutropenia
WAS p.Val473Met Uncertain significance Single submitter
Wiskott-Aldrich syndrome
WAS p.Ala236Gly Pathogenic No assertion criteria
thrombocytopenia 1

All WAS variants

Pathogenic 136

c.1453+2T>C Multiple submitters Wiskott-Aldrich syndrome
c.273+1G>A Multiple submitters Wiskott-Aldrich syndrome
c.360+1G>A Multiple submitters Wiskott-Aldrich syndrome
c.466_469del Multiple submitters thrombocytopenia 1
c.559+5G>A Multiple submitters thrombocytopenia 1
c.777+1G>A Multiple submitters Wiskott-Aldrich syndrome
c.777+3_777+6del Multiple submitters X-linked severe congenital neutropenia
c.778-6G>A Multiple submitters thrombocytopenia 1
p.Ala56Val Multiple submitters thrombocytopenia 1
p.Arg138Pro Multiple submitters thrombocytopenia 1
p.Arg13fs Multiple submitters Wiskott-Aldrich syndrome
p.Arg13Ter Multiple submitters X-linked severe congenital neutropenia
p.Arg211Ter Multiple submitters Wiskott-Aldrich syndrome
p.Arg321Ter Multiple submitters WAS-related disorder
p.Arg364Ter Multiple submitters WAS-related disorder
p.Arg86Cys Multiple submitters Wiskott-Aldrich syndrome
p.Arg86His Multiple submitters WAS-related disorder
p.Asn408fs Multiple submitters thrombocytopenia 1
p.Asp485Asn Multiple submitters X-linked severe congenital neutropenia
p.Gln80Ter Multiple submitters X-linked severe congenital neutropenia
p.Gln99Ter Multiple submitters Wiskott-Aldrich syndrome
p.Gly334fs Multiple submitters Wiskott-Aldrich syndrome
p.Pro353fs Multiple submitters X-linked severe congenital neutropenia
p.Pro59fs Multiple submitters thrombocytopenia 1
p.Thr45Met Multiple submitters WAS-related disorder
p.Trp64Ter Multiple submitters thrombocytopenia 1
p.Val75Met Multiple submitters WAS-related disorder
c.1453+1G>A Single submitter thrombocytopenia 1
c.1453+2T>G Single submitter thrombocytopenia 1
c.361-1G>C Single submitter thrombocytopenia 1
c.361-2A>C Single submitter
c.464-11T>G Single submitter thrombocytopenia 1
c.559+1G>A Single submitter X-linked severe congenital neutropenia
c.559+2T>C Single submitter Wiskott-Aldrich syndrome
c.734+1G>C Single submitter X-linked severe congenital neutropenia
c.734+2T>A Single submitter X-linked severe congenital neutropenia
c.734+5G>A Single submitter X-linked severe congenital neutropenia
c.735-2A>G Single submitter X-linked severe congenital neutropenia
c.735-2A>T Single submitter X-linked severe congenital neutropenia
c.931+1G>A Single submitter X-linked severe congenital neutropenia
c.931+1G>C Single submitter Wiskott-Aldrich syndrome
c.-37_132+35del Single submitter Wiskott-Aldrich syndrome
p.Ala134Val Single submitter thrombocytopenia 1
p.Ala217fs Single submitter thrombocytopenia 1
p.Arg138fs Single submitter X-linked severe congenital neutropenia
p.Arg151fs Single submitter thrombocytopenia 1
p.Arg156fs Single submitter thrombocytopenia 1
p.Arg157fs Single submitter Wiskott-Aldrich syndrome
p.Arg268fs Single submitter thrombocytopenia
p.Arg34Ter Single submitter thrombocytopenia 1
p.Arg41Ter Single submitter thrombocytopenia 1
p.Arg431fs Single submitter X-linked severe congenital neutropenia
p.Asn324fs Single submitter thrombocytopenia 1
p.Asp130fs Single submitter
p.Cys73Ter Single submitter Wiskott-Aldrich syndrome
p.Gln135Ter Single submitter
p.Gln146fs Single submitter X-linked severe congenital neutropenia
p.Gln152Ter Single submitter Wiskott-Aldrich syndrome
p.Gln20Ter Single submitter thrombocytopenia 1
p.Gln28Ter Single submitter thrombocytopenia 1
p.Gln305Ter Single submitter thrombocytopenia 1
p.Gln440Ter Single submitter thrombocytopenia 1
p.Gln91Ter Single submitter X-linked severe congenital neutropenia
p.Gln99fs Single submitter X-linked severe congenital neutropenia
p.Glu133Asp Single submitter thrombocytopenia 1 ⚠
p.Glu37fs Single submitter Wiskott-Aldrich syndrome
p.Glu464Ter Single submitter X-linked severe congenital neutropenia
p.Gly119Arg Single submitter Wiskott-Aldrich syndrome
p.Gly119Ter Single submitter Wiskott-Aldrich syndrome
p.Gly229= Single submitter thrombocytopenia 1
p.Gly322Ter Single submitter Wiskott-Aldrich syndrome
p.Gly334_Asn335insTer Single submitter WAS-related disorder
p.Gly387fs Single submitter
p.Gly430fs Single submitter X-linked severe congenital neutropenia
p.Gly4fs Single submitter thrombocytopenia 1
p.Gly7fs Single submitter X-linked severe congenital neutropenia
p.Gly7Ter Single submitter
p.Gly8fs Single submitter
p.His180fs Single submitter thrombocytopenia 1
p.Ile207fs Single submitter X-linked severe congenital neutropenia
p.Ile276fs Single submitter thrombocytopenia 1
p.Leu101Pro Single submitter thrombocytopenia 1
p.Leu105fs Single submitter Wiskott-Aldrich syndrome
p.Leu195fs Single submitter thrombocytopenia 1
p.Leu342fs Single submitter X-linked severe congenital neutropenia
p.Leu347fs Single submitter Wiskott-Aldrich syndrome
p.Leu35_Phe36insTer Single submitter X-linked severe congenital neutropenia
p.Lys231fs Single submitter thrombocytopenia 1
p.Lys231Ter Single submitter thrombocytopenia 1
p.Phe113fs Single submitter WAS-related disorder
p.Phe128Leu Single submitter thrombocytopenia 1
p.Phe293fs Single submitter X-linked severe congenital neutropenia
p.Pro330fs Single submitter Wiskott-Aldrich syndrome
p.Pro341fs Single submitter thrombocytopenia 1
p.Pro354fs Single submitter X-linked severe congenital neutropenia
p.Pro359fs Single submitter thrombocytopenia 1
p.Pro362fs Single submitter X-linked severe congenital neutropenia
p.Pro398fs Single submitter
p.Pro402fs Single submitter Wiskott-Aldrich syndrome
p.Pro413fs Single submitter
p.Pro58Thr Single submitter X-linked severe congenital neutropenia ⚠
p.Ser210Ter Single submitter Wiskott-Aldrich syndrome
p.Ser221_Pro222insTer Single submitter Wiskott-Aldrich syndrome
p.Ser234fs Single submitter thrombocytopenia 1
p.Ser248fs Single submitter
p.Ser24Pro Single submitter X-linked severe congenital neutropenia ⚠
p.Ser287fs Single submitter thrombocytopenia 1
p.Thr111fs Single submitter Wiskott-Aldrich syndrome
p.Trp252fs Single submitter thrombocytopenia 1
p.Trp252Ter Single submitter thrombocytopenia 1
p.Trp64Arg Single submitter X-linked severe congenital neutropenia
p.Trp97Ter Single submitter
p.Tyr102fs Single submitter thrombocytopenia 1
p.Tyr107Cys Single submitter
p.Tyr107His Single submitter thrombocytopenia 1
p.Tyr83Ter Single submitter
p.Tyr88Ter Single submitter thrombocytopenia 1
p.Val467fs Single submitter Wiskott-Aldrich syndrome
c.1315_1453+204del No assertion criteria Wiskott-Aldrich syndrome
c.1337_1338+9del No assertion criteria Wiskott-Aldrich syndrome
c.360+1G>C No assertion criteria Wiskott-Aldrich syndrome
c.559+2T>G No assertion criteria Wiskott-Aldrich syndrome
c.560-1G>A No assertion criteria Wiskott-Aldrich syndrome
p.130DE[3] No assertion criteria Wiskott-Aldrich syndrome
p.Ala236Gly No assertion criteria thrombocytopenia 1 ⚠
p.Arg86Leu No assertion criteria Wiskott-Aldrich syndrome
p.Gln475Ter No assertion criteria thrombocytopenia 1
p.Gly366fs No assertion criteria Wiskott-Aldrich syndrome
p.Gly60fs No assertion criteria Wiskott-Aldrich syndrome
p.Ile331fs No assertion criteria Wiskott-Aldrich syndrome
p.Ile481Asn No assertion criteria THROMBOCYTOPENIA, X-LINKED, INTERMITTENT
p.Met1Leu No assertion criteria Wiskott-Aldrich syndrome
p.Pro162fs No assertion criteria thrombocytopenia 1
p.Pro58Arg No assertion criteria THROMBOCYTOPENIA, X-LINKED, INTERMITTENT ⚠
p.Ser82Phe No assertion criteria Wiskott-Aldrich syndrome
p.Thr25fs No assertion criteria Wiskott-Aldrich syndrome

Pathogenic/Likely pathogenic 11

c.1339-2A>G Multiple submitters X-linked severe congenital neutropenia
c.360+1G>T Multiple submitters
p.Arg86fs Multiple submitters X-linked severe congenital neutropenia
p.Asp224Gly Multiple submitters Wiskott-Aldrich syndrome ⚠
p.Glu133Lys Multiple submitters Wiskott-Aldrich syndrome
p.Glu31Lys Multiple submitters X-linked severe congenital neutropenia
p.Ile294Thr Multiple submitters WAS-related disorder
p.Leu270Pro Multiple submitters thrombocytopenia 1
p.Phe128Ser Multiple submitters thrombocytopenia 1
p.Pro386fs Multiple submitters Wiskott-Aldrich syndrome
p.Ser242fs Multiple submitters thrombocytopenia 1

Likely pathogenic 56

p.Ile290Thr Multiple submitters Wiskott-Aldrich syndrome
c.360+2_360+24del Single submitter
c.463+1G>A Single submitter thrombocytopenia 1
c.464-5_466dup Single submitter WAS-related disorder
c.506-1G>C Single submitter thrombocytopenia 1
c.509_510del Single submitter Wiskott-Aldrich syndrome
c.559+5G>C Single submitter
c.560-3_560-2del Single submitter Wiskott-Aldrich syndrome
c.777+1G>T Single submitter Wiskott-Aldrich syndrome
c.778-1G>A Single submitter Wiskott-Aldrich syndrome
p.Ala374fs Single submitter Wiskott-Aldrich syndrome
p.Ala433fs Single submitter Abnormality of blood and blood-forming tissues
p.Ala469fs Single submitter WAS-related disorder
p.Arg34fs Single submitter Wiskott-Aldrich syndrome
p.Arg86Pro Single submitter Wiskott-Aldrich syndrome
p.Asp498_Trp500delinsGluAspGlu Single submitter
p.Gln104Ter Single submitter Wiskott-Aldrich syndrome
p.Gln185Ter Single submitter Wiskott-Aldrich syndrome
p.Gln255fs Single submitter Wiskott-Aldrich syndrome
p.Gln80fs Single submitter Wiskott-Aldrich syndrome
p.Glu278Ter Single submitter X-linked severe congenital neutropenia
p.Glu285fs Single submitter Wiskott-Aldrich syndrome
p.Glu31Val Single submitter Wiskott-Aldrich syndrome
p.Glu488fs Single submitter
p.Gly119Glu Single submitter WAS-related disorder
p.Gly125Arg Single submitter thrombocytopenia 1
p.Gly125Glu Single submitter Wiskott-Aldrich syndrome
p.Gly187Cys Single submitter WAS-related disorder ⚠
p.Gly424fs Single submitter Wiskott-Aldrich syndrome
p.Gly70Arg Single submitter thrombocytopenia 1
p.Gly70Val Single submitter thrombocytopenia 1
p.His115Tyr Single submitter Wiskott-Aldrich syndrome
p.His472_Met474del Single submitter thrombocytopenia
p.Leu35Pro Single submitter Wiskott-Aldrich syndrome
p.Leu425fs Single submitter Wiskott-Aldrich syndrome
p.Lys76del Single submitter Wiskott-Aldrich syndrome
p.Phe128Cys Single submitter X-linked severe congenital neutropenia
p.Phe36fs Single submitter Wiskott-Aldrich syndrome
p.Phe84Leu Single submitter X-linked severe congenital neutropenia
p.Pro161fs Single submitter WAS-related disorder
p.Pro351fs Single submitter Wiskott-Aldrich syndrome
p.Pro361fs Single submitter Wiskott-Aldrich syndrome
p.Pro373fs Single submitter WAS-related disorder
p.Pro459fs Single submitter
p.Pro58His Single submitter ⚠
p.Pro58Ser Single submitter ⚠
p.Ser272Pro Single submitter Wiskott-Aldrich syndrome
p.Ser82Pro Single submitter
p.Ter503Arg Single submitter Wiskott-Aldrich syndrome
p.Thr111Pro Single submitter Wiskott-Aldrich syndrome
p.Thr48Pro Single submitter thrombocytopenia 1
p.Tyr54_Leu55delinsAsnLeuAlaLeuProPro Single submitter
p.Val106fs Single submitter Wiskott-Aldrich syndrome
p.Val51Phe Single submitter
p.Cys43Tyr No assertion criteria Wiskott-Aldrich syndrome
p.Thr45Arg No assertion criteria WAS-related disorder

Conflicting classifications of pathogenicity 37

c.1338+8C>T Single submitter X-linked severe congenital neutropenia
p.Ala198Val Single submitter Inborn genetic diseases ⚠
p.Ala236Thr Single submitter X-linked severe congenital neutropenia ⚠
p.Ala350Val Single submitter Inborn genetic diseases ⚠
p.Arg138Gln Single submitter X-linked severe congenital neutropenia ⚠
p.Arg13Gln Single submitter thrombocytopenia 1 ⚠
p.Arg211Gln Single submitter WAS-related disorder
p.Arg213His Single submitter Inborn genetic diseases ⚠
p.Arg268Gln Single submitter X-linked severe congenital neutropenia ⚠
p.Asp296Asn Single submitter Wiskott-Aldrich syndrome ⚠
p.Asp485= Single submitter thrombocytopenia 1
p.Asp77Gly Single submitter WAS-related disorder ⚠
p.Cys69Ser Single submitter Inborn genetic diseases ⚠
p.Gln255His Single submitter Inborn genetic diseases ⚠
p.Gln440Pro Single submitter X-linked severe congenital neutropenia ⚠
p.Glu131Lys Single submitter X-linked severe congenital neutropenia ⚠
p.Gly334Asp Single submitter thrombocytopenia 1 ⚠
p.Gly389Asp Single submitter X-linked severe congenital neutropenia ⚠
p.Gly89Asp Single submitter thrombocytopenia 1 ⚠
p.His180Asn Single submitter X-linked severe congenital neutropenia ⚠
p.Leu415Pro Single submitter Inborn genetic diseases ⚠
p.Leu95= Single submitter thrombocytopenia 1
p.Met307Val Single submitter Bleeding and platelet disorders ⚠
p.Met6Val Single submitter thrombocytopenia 1 ⚠
p.Pro175Leu Single submitter thrombocytopenia 1 ⚠
p.Pro341Leu Single submitter Inborn genetic diseases ⚠
p.Pro354del Single submitter X-linked severe congenital neutropenia
p.Pro360= Single submitter X-linked severe congenital neutropenia
p.Pro361Thr Single submitter Wiskott-Aldrich syndrome ⚠
p.Pro384Ser Single submitter X-linked severe congenital neutropenia ⚠
p.Pro394Leu Single submitter X-linked severe congenital neutropenia ⚠
p.Pro400Leu Single submitter thrombocytopenia 1 ⚠
p.Pro402_Pro404del Single submitter Wiskott-Aldrich syndrome
p.Pro403Leu Single submitter WAS-related disorder ⚠
p.Pro427Leu Single submitter thrombocytopenia 1 ⚠
p.Ser463Leu Single submitter Inborn genetic diseases ⚠
p.Tyr88= Single submitter Wiskott-Aldrich syndrome

Benign 24

c.1453+268= Multiple submitters
c.559+127A>G Multiple submitters
p.Pro314Leu Multiple submitters X-linked severe congenital neutropenia
p.Pro460Ser Multiple submitters thrombocytopenia 1
c.133-18C>T Single submitter thrombocytopenia 1
c.1453+17G>A Single submitter thrombocytopenia 1
c.273+10C>G Single submitter thrombocytopenia 1
c.273+11del Single submitter X-linked severe congenital neutropenia
c.463+14A>C Single submitter thrombocytopenia 1
c.559+4C>T Single submitter thrombocytopenia 1
c.560-4A>C Single submitter Wiskott-Aldrich syndrome
p.Ala418Ser Single submitter X-linked severe congenital neutropenia
p.Asp206= Single submitter thrombocytopenia 1
p.Asp489= Single submitter thrombocytopenia 1
p.Asp502= Single submitter thrombocytopenia 1
p.Glu62Gln Single submitter X-linked severe congenital neutropenia
p.Gly12Ala Single submitter Wiskott-Aldrich syndrome
p.Gly333= Single submitter X-linked severe congenital neutropenia
p.Gly424= Single submitter thrombocytopenia 1
p.Ile202= Single submitter X-linked severe congenital neutropenia
p.Pro192= Single submitter Wiskott-Aldrich syndrome
p.Pro315= Single submitter thrombocytopenia 1
p.Ser2= Single submitter thrombocytopenia 1
p.Thr109= Single submitter X-linked severe congenital neutropenia

Benign/Likely benign 21

c.133-19C>G Multiple submitters X-linked severe congenital neutropenia
c.1339-18G>A Multiple submitters X-linked severe congenital neutropenia
c.1453+16C>T Multiple submitters X-linked severe congenital neutropenia
c.273+10_273+11dup Multiple submitters X-linked severe congenital neutropenia
c.273+11dup Multiple submitters X-linked severe congenital neutropenia
c.273+14C>T Multiple submitters X-linked severe congenital neutropenia
c.559+3G>A Multiple submitters thrombocytopenia 1
c.560-5dup Multiple submitters thrombocytopenia 1
c.931+20C>A Multiple submitters Wiskott-Aldrich syndrome
p.Ala426Ser Multiple submitters X-linked severe congenital neutropenia
p.Ala433= Multiple submitters X-linked severe congenital neutropenia
p.Arg304= Multiple submitters thrombocytopenia 1
p.Glu301Asp Multiple submitters X-linked severe congenital neutropenia
p.His30= Multiple submitters X-linked severe congenital neutropenia
p.Lys232= Multiple submitters X-linked severe congenital neutropenia
p.Lys232del Multiple submitters X-linked severe congenital neutropenia
p.Pro400= Multiple submitters Wiskott-Aldrich syndrome
p.Ser242Cys Multiple submitters thrombocytopenia 1
p.Tyr291= Multiple submitters X-linked severe congenital neutropenia
p.Tyr83= Multiple submitters X-linked severe congenital neutropenia
p.Val332Ala Multiple submitters X-linked severe congenital neutropenia

Likely benign 227

c.1338+9A>C Multiple submitters Wiskott-Aldrich syndrome
c.1454-267A>T Multiple submitters
c.273+15C>T Multiple submitters X-linked severe congenital neutropenia
c.273+16C>A Multiple submitters Wiskott-Aldrich syndrome
c.273+17C>T Multiple submitters thrombocytopenia 1
c.273+19A>G Multiple submitters thrombocytopenia 1
c.273+9_273+11dup Multiple submitters thrombocytopenia 1
c.273+9C>T Multiple submitters thrombocytopenia 1
c.361-17C>T Multiple submitters X-linked severe congenital neutropenia
c.931+20C>T Multiple submitters thrombocytopenia 1
p.Ala166= Multiple submitters thrombocytopenia 1
p.Ala198= Multiple submitters X-linked severe congenital neutropenia
p.Ala418Val Multiple submitters thrombocytopenia 1
p.Ala422= Multiple submitters Wiskott-Aldrich syndrome
p.Ala56= Multiple submitters X-linked severe congenital neutropenia
p.Arg157His Multiple submitters Inborn genetic diseases
p.Asp130= Multiple submitters X-linked severe congenital neutropenia
p.Asp132= Multiple submitters Wiskott-Aldrich syndrome
p.Gly299= Multiple submitters X-linked severe congenital neutropenia
p.Gly358= Multiple submitters thrombocytopenia 1
p.Gly70= Multiple submitters X-linked severe congenital neutropenia
p.Leu140= Multiple submitters thrombocytopenia 1
p.Leu263= Multiple submitters thrombocytopenia 1
p.Leu289= Multiple submitters Wiskott-Aldrich syndrome
p.Leu415= Multiple submitters Wiskott-Aldrich syndrome
p.Phe113= Multiple submitters X-linked severe congenital neutropenia
p.Phe117= Multiple submitters X-linked severe congenital neutropenia
p.Pro192Leu Multiple submitters Inborn genetic diseases
p.Pro351= Multiple submitters thrombocytopenia 1
p.Pro353= Multiple submitters X-linked severe congenital neutropenia
p.Pro354= Multiple submitters X-linked severe congenital neutropenia
p.Pro362= Multiple submitters X-linked severe congenital neutropenia
p.Pro368= Multiple submitters X-linked severe congenital neutropenia
p.Pro370= Multiple submitters X-linked severe congenital neutropenia
p.Pro372= Multiple submitters X-linked severe congenital neutropenia
p.Pro397= Multiple submitters thrombocytopenia 1
p.Pro403= Multiple submitters thrombocytopenia 1
p.Ser406= Multiple submitters thrombocytopenia 1
p.Ter503= Multiple submitters thrombocytopenia 1
c.132+14C>G Single submitter Wiskott-Aldrich syndrome
c.133-15G>A Single submitter X-linked severe congenital neutropenia
c.133-19C>T Single submitter thrombocytopenia 1
c.133-5C>T Single submitter thrombocytopenia 1
c.1338+13A>G Single submitter thrombocytopenia 1
c.1338+13A>T Single submitter thrombocytopenia 1
c.1338+18G>A Single submitter thrombocytopenia 1
c.1338+19G>A Single submitter thrombocytopenia 1
c.1339-16T>C Single submitter X-linked severe congenital neutropenia
c.1339-3C>T Single submitter thrombocytopenia 1
c.1339-4G>A Single submitter Wiskott-Aldrich syndrome
c.1339-6C>G Single submitter X-linked severe congenital neutropenia
c.1453+12C>T Single submitter thrombocytopenia 1
c.1453+20G>C Single submitter thrombocytopenia 1
c.1453+9A>C Single submitter X-linked severe congenital neutropenia
c.1454-11T>C Single submitter Wiskott-Aldrich syndrome
c.1454-12C>A Single submitter X-linked severe congenital neutropenia
c.1454-12C>T Single submitter thrombocytopenia 1
c.1454-14C>T Single submitter thrombocytopenia 1
c.1454-5T>C Single submitter X-linked severe congenital neutropenia
c.1454-6C>T Single submitter X-linked severe congenital neutropenia
c.1454-7C>T Single submitter Wiskott-Aldrich syndrome
c.273+11C>A Single submitter thrombocytopenia 1
c.273+11C>G Single submitter X-linked severe congenital neutropenia
c.273+11C>T Single submitter thrombocytopenia 1
c.273+12dup Single submitter thrombocytopenia 1
c.273+14C>G Single submitter X-linked severe congenital neutropenia
c.273+17C>A Single submitter X-linked severe congenital neutropenia
c.273+6C>T Single submitter Wiskott-Aldrich syndrome
c.273+8_273+9insA Single submitter thrombocytopenia 1
c.274-11C>T Single submitter X-linked severe congenital neutropenia
c.274-20C>A Single submitter thrombocytopenia 1
c.274-4C>T Single submitter X-linked severe congenital neutropenia
c.360+13C>G Single submitter thrombocytopenia 1
c.360+13C>T Single submitter X-linked severe congenital neutropenia
c.360+8A>G Single submitter X-linked severe congenital neutropenia
c.361-10G>A Single submitter X-linked severe congenital neutropenia
c.361-12A>G Single submitter thrombocytopenia 1
c.361-8A>T Single submitter thrombocytopenia 1
c.463+10C>T Single submitter thrombocytopenia 1
c.463+12A>G Single submitter X-linked severe congenital neutropenia
c.464-13C>T Single submitter thrombocytopenia 1
c.464-9T>C Single submitter Wiskott-Aldrich syndrome
c.505+10C>A Single submitter Wiskott-Aldrich syndrome
c.505+20T>C Single submitter thrombocytopenia 1
c.505+3_505+7dup Single submitter X-linked severe congenital neutropenia
c.506-10A>G Single submitter Wiskott-Aldrich syndrome
c.506-12C>T Single submitter
c.506-15A>G Single submitter Wiskott-Aldrich syndrome
c.559+14_559+32del Single submitter Wiskott-Aldrich syndrome
c.559+6_559+13dup Single submitter thrombocytopenia 1
c.559+8C>G Single submitter Wiskott-Aldrich syndrome
c.560-175A>G Single submitter
c.560-6C>T Single submitter Wiskott-Aldrich syndrome
c.735-10C>A Single submitter thrombocytopenia 1
c.735-16_735-15insGT Single submitter Wiskott-Aldrich syndrome
c.735-5C>T Single submitter thrombocytopenia 1
c.777+11T>A Single submitter X-linked severe congenital neutropenia
c.777+12del Single submitter thrombocytopenia 1
c.777+17T>C Single submitter X-linked severe congenital neutropenia
c.778-11C>T Single submitter thrombocytopenia 1
c.778-14T>C Single submitter thrombocytopenia 1
c.778-7T>C Single submitter
c.778-8C>T Single submitter X-linked severe congenital neutropenia
c.778-9C>T Single submitter Wiskott-Aldrich syndrome
c.931+10T>A Single submitter thrombocytopenia 1
c.931+14T>C Single submitter thrombocytopenia 1
c.931+15C>T Single submitter Wiskott-Aldrich syndrome
c.931+19A>C Single submitter thrombocytopenia 1
c.931+7C>A Single submitter X-linked severe congenital neutropenia
c.932-10C>T Single submitter thrombocytopenia 1
c.932-11C>A Single submitter X-linked severe congenital neutropenia
c.932-12C>A Single submitter thrombocytopenia 1
c.932-12C>T Single submitter X-linked severe congenital neutropenia
c.932-15A>G Single submitter thrombocytopenia 1
c.932-18_932-17del Single submitter Wiskott-Aldrich syndrome
c.932-5C>T Single submitter Wiskott-Aldrich syndrome
c.932-9_932-8dup Single submitter thrombocytopenia 1
c.932-9C>A Single submitter thrombocytopenia 1
p.Ala118Thr Single submitter X-linked severe congenital neutropenia
p.Ala124= Single submitter thrombocytopenia 1
p.Ala17= Single submitter thrombocytopenia 1
p.Ala17Val Single submitter Wiskott-Aldrich syndrome
p.Ala223= Single submitter X-linked severe congenital neutropenia
p.Ala284= Single submitter thrombocytopenia 1
p.Ala374= Single submitter thrombocytopenia 1
p.Ala469= Single submitter X-linked severe congenital neutropenia
p.Ala47= Single submitter Wiskott-Aldrich syndrome
p.Ala480= Single submitter Wiskott-Aldrich syndrome
p.Ala491= Single submitter thrombocytopenia 1
p.Ala491Thr Single submitter X-linked severe congenital neutropenia
p.Arg211= Single submitter X-linked severe congenital neutropenia
p.Arg268= Single submitter thrombocytopenia 1
p.Arg273= Single submitter X-linked severe congenital neutropenia
p.Arg364= Single submitter X-linked severe congenital neutropenia
p.Arg377= Single submitter Wiskott-Aldrich syndrome
p.Arg431= Single submitter thrombocytopenia 1
p.Arg439= Single submitter thrombocytopenia 1
p.Asn256= Single submitter X-linked severe congenital neutropenia
p.Asn445= Single submitter thrombocytopenia 1
p.Asp201= Single submitter thrombocytopenia 1
p.Asp283= Single submitter X-linked severe congenital neutropenia
p.Asp493= Single submitter X-linked severe congenital neutropenia
p.Asp493Asn Single submitter X-linked severe congenital neutropenia
p.Asp498= Single submitter thrombocytopenia 1
p.Gln123= Single submitter Wiskott-Aldrich syndrome
p.Gln135= Single submitter X-linked severe congenital neutropenia
p.Gln146= Single submitter thrombocytopenia 1
p.Gln152Arg Single submitter thrombocytopenia 1
p.Gln440= Single submitter thrombocytopenia 1
p.Gln475= Single submitter X-linked severe congenital neutropenia
p.Glu131= Single submitter
p.Glu278= Single submitter thrombocytopenia 1
p.Gly173= Single submitter Wiskott-Aldrich syndrome
p.Gly196= Single submitter Wiskott-Aldrich syndrome
p.Gly214= Single submitter thrombocytopenia 1
p.Gly376= Single submitter X-linked severe congenital neutropenia
p.Gly429Arg Single submitter X-linked severe congenital neutropenia ⚠
p.Gly449= Single submitter thrombocytopenia 1
p.Gly492= Single submitter X-linked severe congenital neutropenia
p.His180= Single submitter X-linked severe congenital neutropenia
p.His249= Single submitter thrombocytopenia 1
p.His472= Single submitter Wiskott-Aldrich syndrome
p.His63= Single submitter thrombocytopenia 1
p.His68= Single submitter X-linked severe congenital neutropenia
p.Ile85= Single submitter thrombocytopenia 1
p.Leu101= Single submitter Wiskott-Aldrich syndrome
p.Leu193= Single submitter thrombocytopenia 1
p.Leu195= Single submitter X-linked severe congenital neutropenia
p.Leu270= Single submitter thrombocytopenia 1
p.Leu342= Single submitter X-linked severe congenital neutropenia
p.Leu347= Single submitter X-linked severe congenital neutropenia
p.Leu419Met Single submitter Wiskott-Aldrich syndrome
p.Leu435= Single submitter X-linked severe congenital neutropenia
p.Leu456= Single submitter thrombocytopenia 1
p.Leu46= Single submitter thrombocytopenia 1
p.Leu53= Single submitter Wiskott-Aldrich syndrome
p.Lys225= Single submitter Wiskott-Aldrich syndrome
p.Lys230= Single submitter thrombocytopenia 1
p.Lys81= Single submitter thrombocytopenia 1
p.Phe137= Single submitter X-linked severe congenital neutropenia
p.Phe74= Single submitter thrombocytopenia 1
p.Pro10= Single submitter X-linked severe congenital neutropenia
p.Pro218= Single submitter thrombocytopenia 1
p.Pro23= Single submitter Wiskott-Aldrich syndrome
p.Pro265= Single submitter thrombocytopenia 1
p.Pro314= Single submitter thrombocytopenia 1
p.Pro318= Single submitter Wiskott-Aldrich syndrome
p.Pro329= Single submitter thrombocytopenia 1
p.Pro329Ala Single submitter X-linked severe congenital neutropenia
p.Pro344= Single submitter thrombocytopenia 1
p.Pro346= Single submitter X-linked severe congenital neutropenia
p.Pro352= Single submitter thrombocytopenia 1
p.Pro356= Single submitter X-linked severe congenital neutropenia
p.Pro367= Single submitter Wiskott-Aldrich syndrome
p.Pro369= Single submitter Wiskott-Aldrich syndrome
p.Pro371= Single submitter thrombocytopenia 1
p.Pro373= Single submitter Wiskott-Aldrich syndrome
p.Pro380= Single submitter X-linked severe congenital neutropenia
p.Pro383= Single submitter
p.Pro385= Single submitter thrombocytopenia 1
p.Pro396= Single submitter
p.Pro399= Single submitter X-linked severe congenital neutropenia
p.Pro402= Single submitter Wiskott-Aldrich syndrome
p.Pro421= Single submitter thrombocytopenia 1
p.Pro459= Single submitter Wiskott-Aldrich syndrome
p.Ser221= Single submitter X-linked severe congenital neutropenia
p.Ser248= Single submitter thrombocytopenia 1
p.Ser277= Single submitter thrombocytopenia 1
p.Ser378= Single submitter thrombocytopenia 1
p.Thr116= Single submitter thrombocytopenia 1
p.Thr164Pro Single submitter thrombocytopenia 1
p.Thr208= Single submitter X-linked severe congenital neutropenia
p.Thr25= Single submitter Wiskott-Aldrich syndrome
p.Thr282= Single submitter X-linked severe congenital neutropenia
p.Thr286= Single submitter X-linked severe congenital neutropenia
p.Thr375= Single submitter X-linked severe congenital neutropenia
p.Thr447= Single submitter Wiskott-Aldrich syndrome
p.Thr45= Single submitter thrombocytopenia 1
p.Thr65= Single submitter thrombocytopenia 1
p.Val18= Single submitter
p.Val190= Single submitter Wiskott-Aldrich syndrome
p.Val250= Single submitter X-linked severe congenital neutropenia
p.Val260= Single submitter X-linked severe congenital neutropenia
p.Val332= Single submitter thrombocytopenia 1
p.Val420= Single submitter thrombocytopenia 1
p.Val50= Single submitter thrombocytopenia 1
p.Val75= Single submitter thrombocytopenia 1

Uncertain significance 214

c.360+6T>C Multiple submitters X-linked severe congenital neutropenia
c.463+3G>C Multiple submitters thrombocytopenia 1
p.Ala129Pro Multiple submitters thrombocytopenia 1 ⚠
p.Arg268Pro Multiple submitters thrombocytopenia 1 ⚠
p.Arg268Trp Multiple submitters X-linked severe congenital neutropenia
p.Arg309Cys Multiple submitters Wiskott-Aldrich syndrome ⚠
p.Arg321Gln Multiple submitters thrombocytopenia 1 ⚠
p.Arg328Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg328Trp Multiple submitters Wiskott-Aldrich syndrome ⚠
p.Arg357Gln Multiple submitters X-linked severe congenital neutropenia ⚠
p.Arg377Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg41Gln Multiple submitters thrombocytopenia 1 ⚠
p.Arg431Trp Multiple submitters X-linked severe congenital neutropenia ⚠
p.Arg94Gln Multiple submitters Inborn genetic diseases ⚠
p.Asp264Asn Multiple submitters Wiskott-Aldrich syndrome ⚠
p.Asp489Gly Multiple submitters Inborn genetic diseases ⚠
p.Gln19His Multiple submitters X-linked severe congenital neutropenia ⚠
p.Gln325His Multiple submitters X-linked severe congenital neutropenia ⚠
p.Gln440Lys Multiple submitters thrombocytopenia 1 ⚠
p.Glu464Gly Multiple submitters thrombocytopenia 1 ⚠
p.Glu486Lys Multiple submitters X-linked severe congenital neutropenia ⚠
p.Glu98Lys Multiple submitters Wiskott-Aldrich syndrome ⚠
p.Gly14Arg Multiple submitters thrombocytopenia 1
p.Gly183Arg Multiple submitters thrombocytopenia 1 ⚠
p.Gly333Ala Multiple submitters Wiskott-Aldrich syndrome ⚠
p.Ile238Thr Multiple submitters X-linked severe congenital neutropenia ⚠
p.Ile331Phe Multiple submitters thrombocytopenia 1 ⚠
p.Leu44Val Multiple submitters WAS-related disorder ⚠
p.Leu55Pro Multiple submitters thrombocytopenia 1 ⚠
p.Pro178Leu Multiple submitters thrombocytopenia 1 ⚠
p.Pro23Arg Multiple submitters thrombocytopenia 1 ⚠
p.Pro316Thr Multiple submitters Wiskott-Aldrich syndrome ⚠
p.Pro330Leu Multiple submitters thrombocytopenia 1 ⚠
p.Pro371Leu Multiple submitters thrombocytopenia 1 ⚠
p.Pro386Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro397Leu Multiple submitters thrombocytopenia 1 ⚠
p.Pro402_Pro404dup Multiple submitters X-linked severe congenital neutropenia
p.Pro402Leu Multiple submitters X-linked severe congenital neutropenia ⚠
p.Pro404_Ser405insProProPro Multiple submitters thrombocytopenia 1
p.Pro416Leu Multiple submitters X-linked severe congenital neutropenia ⚠
p.Thr282Ala Multiple submitters Inborn genetic diseases ⚠
p.Val420Ala Multiple submitters X-linked severe congenital neutropenia ⚠
c.132+6C>T Single submitter Wiskott-Aldrich syndrome
c.133-38C>A Single submitter
c.1338+1dup Single submitter Wiskott-Aldrich syndrome
c.1453+6C>G Single submitter thrombocytopenia 1
c.1453+779C>T Single submitter
c.274-9C>G Single submitter thrombocytopenia 1
c.360+5G>A Single submitter Wiskott-Aldrich syndrome
c.463+35C>G Single submitter
c.463+5G>A Single submitter thrombocytopenia 1
c.464-3C>T Single submitter
c.505+4A>G Single submitter thrombocytopenia 1
c.506-9T>G Single submitter thrombocytopenia 1
c.559+6T>C Single submitter Wiskott-Aldrich syndrome
c.734+3G>A Single submitter thrombocytopenia 1
c.735-21_735-11del Single submitter
c.777+4A>C Single submitter thrombocytopenia 1
c.777+5G>A Single submitter X-linked severe congenital neutropenia
c.777+6dup Single submitter Wiskott-Aldrich syndrome
c.931+5G>C Single submitter X-linked severe congenital neutropenia
p.494ED[1] Single submitter Wiskott-Aldrich syndrome
p.Ala124Glu Single submitter thrombocytopenia 1 ⚠
p.Ala136Val Single submitter
p.Ala139Asp Single submitter thrombocytopenia 1 ⚠
p.Ala17Ser Single submitter Wiskott-Aldrich syndrome ⚠
p.Ala198Gly Single submitter X-linked severe congenital neutropenia ⚠
p.Ala217Glu Single submitter Wiskott-Aldrich syndrome ⚠
p.Ala374Thr Single submitter Inborn genetic diseases ⚠
p.Ala418Thr Single submitter X-linked severe congenital neutropenia ⚠
p.Ala433Val Single submitter Wiskott-Aldrich syndrome ⚠
p.Ala455Val Single submitter ⚠
p.Ala92Thr Single submitter Wiskott-Aldrich syndrome ⚠
p.Arg138Trp Single submitter thrombocytopenia 1 ⚠
p.Arg151Lys Single submitter ⚠
p.Arg156Thr Single submitter Wiskott-Aldrich syndrome ⚠
p.Arg171Lys Single submitter X-linked severe congenital neutropenia ⚠
p.Arg227Cys Single submitter Wiskott-Aldrich syndrome ⚠
p.Arg227His Single submitter Wiskott-Aldrich syndrome ⚠
p.Arg273Met Single submitter ⚠
p.Arg273Ser Single submitter thrombocytopenia 1 ⚠
p.Arg309His Single submitter thrombocytopenia 1 ⚠
p.Arg357Trp Single submitter Wiskott-Aldrich syndrome ⚠
p.Arg364Gln Single submitter thrombocytopenia 1 ⚠
p.Arg377His Single submitter thrombocytopenia 1 ⚠
p.Arg439Pro Single submitter thrombocytopenia 1 ⚠
p.Arg439Trp Single submitter Wiskott-Aldrich syndrome
p.Arg477Thr Single submitter ⚠
p.Arg94Trp Single submitter X-linked severe congenital neutropenia ⚠
p.Asn204Tyr Single submitter thrombocytopenia 1 ⚠
p.Asn21Ile Single submitter thrombocytopenia 1 ⚠
p.Asn32Lys Single submitter thrombocytopenia 1 ⚠
p.Asp130Asn Single submitter thrombocytopenia 1 ⚠
p.Asp201Asn Single submitter X-linked severe congenital neutropenia ⚠
p.Asp224Asn Single submitter Inborn genetic diseases ⚠
p.Asp259= Single submitter X-linked severe congenital neutropenia
p.Asp259Asn Single submitter thrombocytopenia 1 ⚠
p.Asp292Asn Single submitter X-linked severe congenital neutropenia ⚠
p.Asp497Gly Single submitter X-linked severe congenital neutropenia ⚠
p.Asp77Asn Single submitter ⚠
p.Cys73Ser Single submitter thrombocytopenia ⚠
p.Gln123His Single submitter Wiskott-Aldrich syndrome ⚠
p.Gln135Pro Single submitter Wiskott-Aldrich syndrome ⚠
p.Gln146Lys Single submitter thrombocytopenia 1 ⚠
p.Gln152His Single submitter thrombocytopenia 1 ⚠
p.Gln185Leu Single submitter thrombocytopenia 1 ⚠
p.Gln33Glu Single submitter Wiskott-Aldrich syndrome ⚠
p.Gln437Pro Single submitter X-linked severe congenital neutropenia ⚠
p.Gln461Arg Single submitter Inborn genetic diseases ⚠
p.Gln461Pro Single submitter Wiskott-Aldrich syndrome ⚠
p.Gln52His Single submitter thrombocytopenia 1 ⚠
p.Gln91= Single submitter thrombocytopenia 1
p.Gln99Arg Single submitter Wiskott-Aldrich syndrome ⚠
p.Gln99Pro Single submitter X-linked severe congenital neutropenia ⚠
p.Glu143del Single submitter thrombocytopenia 1
p.Glu306Lys Single submitter X-linked severe congenital neutropenia ⚠
p.Glu452Asp Single submitter thrombocytopenia 1 ⚠
p.Glu486Asp Single submitter Wiskott-Aldrich syndrome ⚠
p.Glu496Ala Single submitter Wiskott-Aldrich syndrome ⚠
p.Gly183Glu Single submitter ⚠
p.Gly251Glu Single submitter WAS-related disorder
p.Gly323del Single submitter X-linked severe congenital neutropenia
p.Gly337Ser Single submitter Wiskott-Aldrich syndrome ⚠
p.Gly358Glu Single submitter thrombocytopenia 1 ⚠
p.Gly379Arg Single submitter thrombocytopenia 1 ⚠
p.Gly407Arg Single submitter X-linked severe congenital neutropenia ⚠
p.Gly423Arg Single submitter ⚠
p.Gly430Val Single submitter ⚠
p.Gly4Asp Single submitter ⚠
p.Gly8Arg Single submitter thrombocytopenia 1 ⚠
p.His115Arg Single submitter X-linked severe congenital neutropenia ⚠
p.His249Gln Single submitter X-linked severe congenital neutropenia ⚠
p.His30del Single submitter thrombocytopenia 1
p.His68Arg Single submitter Inborn genetic diseases ⚠
p.Ile331Met Single submitter ⚠
p.Ile331Thr Single submitter X-linked severe congenital neutropenia ⚠
p.Ile85Asn Single submitter thrombocytopenia 1 ⚠
p.Leu177Arg Single submitter thrombocytopenia 1 ⚠
p.Leu267Arg Single submitter ⚠
p.Leu26Ile Single submitter Inborn genetic diseases ⚠
p.Leu281Ile Single submitter thrombocytopenia 1 ⚠
p.Leu326Pro Single submitter ⚠
p.Leu425_Ala426delinsProGly Single submitter X-linked severe congenital neutropenia
p.Leu425Pro Single submitter X-linked severe congenital neutropenia ⚠
p.Leu434Phe Single submitter Wiskott-Aldrich syndrome ⚠
p.Leu444Val Single submitter ⚠
p.Lys230Arg Single submitter thrombocytopenia 1 ⚠
p.Lys232Arg Single submitter Inborn genetic diseases ⚠
p.Lys232Met Single submitter thrombocytopenia 1 ⚠
p.Lys76Thr Single submitter thrombocytopenia 1 ⚠
p.Met474Ile Single submitter thrombocytopenia 1 ⚠
p.Phe114Ile Single submitter ⚠
p.Pro10Ser Single submitter Wiskott-Aldrich syndrome ⚠
p.Pro112Arg Single submitter thrombocytopenia 1 ⚠
p.Pro112His Single submitter X-linked severe congenital neutropenia ⚠
p.Pro161Ala Single submitter Wiskott-Aldrich syndrome ⚠
p.Pro161Gln Single submitter Wiskott-Aldrich syndrome ⚠
p.Pro16Ala Single submitter X-linked severe congenital neutropenia ⚠
p.Pro176Ser Single submitter Inborn genetic diseases ⚠
p.Pro181Leu Single submitter thrombocytopenia 1 ⚠
p.Pro181Ser Single submitter X-linked severe congenital neutropenia ⚠
p.Pro189Arg Single submitter Wiskott-Aldrich syndrome
p.Pro220Ser Single submitter thrombocytopenia 1 ⚠
p.Pro316His Single submitter thrombocytopenia 1 ⚠
p.Pro316Leu Single submitter Inborn genetic diseases ⚠
p.Pro318Leu Single submitter Wiskott-Aldrich syndrome ⚠
p.Pro343Leu Single submitter thrombocytopenia 1 ⚠
p.Pro354Gln Single submitter thrombocytopenia 1 ⚠
p.Pro356His Single submitter X-linked severe congenital neutropenia ⚠
p.Pro359Ser Single submitter X-linked severe congenital neutropenia ⚠
p.Pro359Thr Single submitter Wiskott-Aldrich syndrome ⚠
p.Pro361His Single submitter thrombocytopenia 1 ⚠
p.Pro362Thr Single submitter thrombocytopenia 1 ⚠
p.Pro369Leu Single submitter thrombocytopenia 1 ⚠
p.Pro371Thr Single submitter ⚠
p.Pro383Leu Single submitter X-linked severe congenital neutropenia ⚠
p.Pro385Ala Single submitter Inborn genetic diseases ⚠
p.Pro392Thr Single submitter X-linked severe congenital neutropenia ⚠
p.Pro395Ala Single submitter thrombocytopenia 1 ⚠
p.Pro396Arg Single submitter thrombocytopenia 1 ⚠
p.Pro396Gln Single submitter Inborn genetic diseases ⚠
p.Pro397Ala Single submitter thrombocytopenia 1 ⚠
p.Pro399Arg Single submitter thrombocytopenia 1 ⚠
p.Pro403Gln Single submitter thrombocytopenia 1 ⚠
p.Pro410Arg Single submitter thrombocytopenia 1 ⚠
p.Pro448Leu Single submitter thrombocytopenia 1 ⚠
p.Pro448Ser Single submitter Wiskott-Aldrich syndrome ⚠
p.Pro460Arg Single submitter thrombocytopenia 1 ⚠
p.Ser153Arg Single submitter Inborn genetic diseases ⚠
p.Ser153Ile Single submitter thrombocytopenia 1 ⚠
p.Ser194Pro Single submitter Inborn genetic diseases ⚠
p.Ser242Arg Single submitter X-linked severe congenital neutropenia ⚠
p.Ser269Cys Single submitter X-linked severe congenital neutropenia ⚠
p.Ser272_Arg273insSer Single submitter
p.Ser320Phe Single submitter thrombocytopenia 1 ⚠
p.Ser320Pro Single submitter thrombocytopenia 1 ⚠
p.Ser405Asn Single submitter ⚠
p.Ser453Thr Single submitter thrombocytopenia 1 ⚠
p.Ser462Arg Single submitter thrombocytopenia 1 ⚠
p.Ser462Gly Single submitter Inborn genetic diseases ⚠
p.Ter503CysextTer? Single submitter thrombocytopenia 1
p.Ter503Ser Single submitter thrombocytopenia 1
p.Ter503Trp Single submitter thrombocytopenia 1
p.Thr25Ile Single submitter X-linked severe congenital neutropenia ⚠
p.Thr65Asn Single submitter thrombocytopenia 1 ⚠
p.Trp500Ter Single submitter
p.Tyr107Ser Single submitter ⚠
p.Val141Met Single submitter X-linked severe congenital neutropenia ⚠
p.Val18Ile Single submitter thrombocytopenia 1 ⚠
p.Val247= Single submitter thrombocytopenia 1
p.Val473Met Single submitter Wiskott-Aldrich syndrome ⚠
p.Val50Asp Single submitter X-linked severe congenital neutropenia ⚠
p.Arg477Gly No assertion criteria Wiskott-Aldrich syndrome ⚠
p.Asn149Tyr No assertion criteria Wiskott-Aldrich syndrome ⚠