BTK — 848 ClinVar variants

All ClinVar germline BTK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →

220 Pathogenic · 19 Pathogenic/Likely pathogenic · 111 Likely pathogenic · 23 Conflicting · 53 Benign · 17 Benign/Likely benign · 208 Likely benign · 197 Uncertain significance

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

⚑ Evidence disagreements 166

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.

BTK p.Gln196His Likely pathogenic Single submitter

Predictors agree, ClinVar conflicts 8

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

BTK p.Arg255Gln Conflicting Single submitter
Inherited Immunodeficiency Diseases
BTK p.Arg492His Conflicting Single submitter
Bruton-type agammaglobulinemia
BTK p.Asp504Val Conflicting Single submitter
isolated growth hormone deficiency type III
BTK p.His333Arg Conflicting Single submitter
isolated growth hormone deficiency type III
BTK p.Leu198Ser Conflicting Single submitter
Inborn genetic diseases
BTK p.Leu542Pro Conflicting Single submitter
isolated growth hormone deficiency type III
BTK p.Pro566Leu Conflicting Single submitter
Bruton-type agammaglobulinemia
BTK p.Pro597Ser Conflicting Single submitter
isolated growth hormone deficiency type III

Predictors lean, ClinVar uncertain 113

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

BTK p.Ala3Thr Uncertain significance Multiple submitters
isolated growth hormone deficiency type III
BTK p.Arg615Cys Uncertain significance Multiple submitters
isolated growth hormone deficiency type III
BTK p.Asn161Thr Uncertain significance Multiple submitters
BTK-related disorder
BTK p.Glu240Asp Uncertain significance Multiple submitters
BTK-related disorder
BTK p.Glu298Lys Uncertain significance Multiple submitters
Inborn genetic diseases
BTK p.Lys314Arg Uncertain significance Multiple submitters
Inborn genetic diseases
BTK p.Phe304Cys Uncertain significance Multiple submitters
Inborn genetic diseases
BTK p.Pro327Leu Uncertain significance Multiple submitters
Inborn genetic diseases
BTK p.Ser115Phe Uncertain significance Multiple submitters
Bruton-type agammaglobulinemia
BTK p.Trp634Arg Uncertain significance Multiple submitters
Bruton-type agammaglobulinemia
BTK p.Val113Ile Uncertain significance Multiple submitters
isolated growth hormone deficiency type III
BTK p.Val34Met Uncertain significance Multiple submitters
Bruton-type agammaglobulinemia
BTK p.Ala272Gly Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ala291Asp Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ala312Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ala347Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ala428Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ala524Val Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ala607Thr Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ala622Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Arg123Gln Uncertain significance Single submitter
Inborn genetic diseases
BTK p.Arg253Lys Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Arg288Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Arg468Leu Uncertain significance Single submitter
BTK p.Arg490His Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Arg520Leu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Arg615Leu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Arg618Gly Uncertain significance Single submitter
BTK p.Arg641Leu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Asn365Tyr Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Asp232Tyr Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Asp326Glu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Asp579Asn Uncertain significance Single submitter
BTK p.Cys165Arg Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Cys464Phe Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Cys506Arg Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Cys506Phe Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Gln103Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Gln196Lys Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Gln380Glu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Gln496Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Gln497His Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Glu119Lys Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Glu194Lys Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Glu246Gln Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Glu488Lys Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Glu500Asp Uncertain significance Single submitter
BTK p.Gly150Glu Uncertain significance Single submitter
Bruton-type agammaglobulinemia
BTK p.Gly178Arg Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Gly262Val Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Gly302Val Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Gly303Asp Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Gly435Val Uncertain significance Single submitter
Bruton-type agammaglobulinemia
BTK p.Gly584Glu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.His333Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.His333Tyr Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.His519Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ile355Thr Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ile432Asn Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ile473Asn Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ile56Val Uncertain significance Single submitter
BTK p.Ile629Val Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ile651Ser Uncertain significance Single submitter
Bruton-type agammaglobulinemia
BTK p.Ile9Asn Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Leu111Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Leu120Pro Uncertain significance Single submitter
BTK p.Leu294Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Leu373His Uncertain significance Single submitter
Bruton-type agammaglobulinemia
BTK p.Leu482Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Leu512Arg Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Leu518Arg Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Leu522Arg Uncertain significance Single submitter
BTK p.Leu593Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Lys18Glu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Lys300Arg Uncertain significance Single submitter
BTK p.Lys382Glu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Lys536Glu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Lys577Thr Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Met477Ile Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Phe25Ser Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Phe413Leu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Phe574Leu Uncertain significance Single submitter
BTK p.Pro101Leu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Pro250Leu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Pro340Ser Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Pro469Leu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Pro80Leu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ser115Tyr Uncertain significance Single submitter
BTK p.Ser14Phe Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ser179Asn Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ser179Ile Uncertain significance Single submitter
Inborn genetic diseases
BTK p.Ser342Asn Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ser353Asn Uncertain significance Single submitter
BTK p.Ser514Thr Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ser55Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ser564Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ser592Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ser592Tyr Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Thr403Pro Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Thr410Ile Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Thr495Ser Uncertain significance Single submitter
BTK p.Thr628Ser Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Trp281Arg Uncertain significance Single submitter
Bruton-type agammaglobulinemia
BTK p.Trp581Cys Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Tyr375Cys Uncertain significance Single submitter
Inborn genetic diseases
BTK p.Val131Ile Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Val306Ala Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Val34Leu Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Val463Ile Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Val505Ile Uncertain significance Single submitter
BTK p.Val537Ala Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Val555Ala Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Val585Ile Uncertain significance Single submitter

Predictors split 44

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

BTK p.Arg492Pro Uncertain significance Multiple submitters
isolated growth hormone deficiency type III
BTK p.Asp107Tyr Uncertain significance Multiple submitters
isolated growth hormone deficiency type III
BTK p.Glu608Gly Uncertain significance Multiple submitters
isolated growth hormone deficiency type III
BTK p.Ile443Thr Uncertain significance Multiple submitters
isolated growth hormone deficiency type III
BTK p.Ala611Asp Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Arg123Trp Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Arg133Trp Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Arg236Trp Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Arg490Cys Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Arg544Lys Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Asn365Lys Uncertain significance Single submitter
BTK p.Asp137Gly Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Asp149Asn Uncertain significance Single submitter
Inborn genetic diseases
BTK p.Asp531Tyr Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Cys481Ser Conflicting Single submitter
isolated growth hormone deficiency type III
BTK p.Cys63Phe Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Cys63Ser Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Glu357Lys Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Gly303Ser Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Gly393Arg Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Gly556Ser Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.His362Tyr Likely pathogenic Single submitter
BTK-related disorder
BTK p.Leu11Met Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Leu153Ile Likely benign Single submitter
isolated growth hormone deficiency type III
BTK p.Lys26Arg Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Met437Ile Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Met587Ile Conflicting Single submitter
Bruton-type agammaglobulinemia
BTK p.Met596Thr Likely pathogenic Single submitter
common variable immunodeficiency
BTK p.Phe146Leu Uncertain significance Single submitter
BTK p.Phe320Cys Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Phe98Leu Uncertain significance Single submitter
BTK p.Pro203Leu Likely benign Single submitter
isolated growth hormone deficiency type III
BTK p.Pro227Thr Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ser289Arg Conflicting Single submitter
isolated growth hormone deficiency type III
BTK p.Ser310Arg Uncertain significance Single submitter
BTK p.Ser453Phe Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Ser623Leu Conflicting Single submitter
isolated growth hormone deficiency type III
BTK p.Thr117Ala Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Thr316Ala Likely pathogenic Single submitter
BTK p.Thr403Asn Uncertain significance Single submitter
BTK p.Thr403Ile Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Tyr545His Uncertain significance Single submitter
isolated growth hormone deficiency type III
BTK p.Val335Asp Pathogenic Single submitter
Bruton-type agammaglobulinemia
BTK p.Ser543Pro Pathogenic No assertion criteria
Bruton-type agammaglobulinemia

All BTK variants

Pathogenic 220

c.1349+1G>A Multiple submitters Bruton-type agammaglobulinemia
c.1632-2A>G Multiple submitters isolated growth hormone deficiency type III
c.588+1G>T Multiple submitters isolated growth hormone deficiency type III
p.Arg13Ter Multiple submitters Bruton-type agammaglobulinemia
p.Arg255Ter Multiple submitters Bruton-type agammaglobulinemia
p.Arg288Gln Multiple submitters Bruton-type agammaglobulinemia
p.Arg28Cys Multiple submitters Bruton-type agammaglobulinemia
p.Arg28His Multiple submitters Bruton-type agammaglobulinemia
p.Arg520Gln Multiple submitters BTK-related disorder
p.Arg520Ter Multiple submitters isolated growth hormone deficiency type III
p.Arg525Ter Multiple submitters isolated growth hormone deficiency type III
p.Arg562Trp Multiple submitters BTK-related disorder
p.Arg641His Multiple submitters BTK-related disorder
p.Asn72fs Multiple submitters isolated growth hormone deficiency type III
p.Cys527fs Multiple submitters isolated growth hormone deficiency type III
p.Gln380Ter Multiple submitters Bruton-type agammaglobulinemia
p.Gln612Ter Multiple submitters Bruton-type agammaglobulinemia
p.Glu441Ter Multiple submitters Bruton-type agammaglobulinemia
p.Gly594Glu Multiple submitters BTK-related disorder
p.His362Arg Multiple submitters BTK-related disorder
p.Leu369Pro Multiple submitters Bruton-type agammaglobulinemia
p.Lys141fs Multiple submitters Bruton-type agammaglobulinemia
p.Lys60del Multiple submitters isolated growth hormone deficiency type III
p.Met1Ile Multiple submitters isolated growth hormone deficiency type III
p.Thr158fs Multiple submitters isolated growth hormone deficiency type III
p.Thr474fs Multiple submitters isolated growth hormone deficiency type III
p.Trp252Ter Multiple submitters Bruton-type agammaglobulinemia
p.Trp588Ter Multiple submitters isolated growth hormone deficiency type III
p.Tyr241fs Multiple submitters Bruton-type agammaglobulinemia
p.Tyr40Cys Multiple submitters isolated growth hormone deficiency type III
p.Val219fs Multiple submitters isolated growth hormone deficiency type III
c.1350-1G>A Single submitter isolated growth hormone deficiency type III
c.1350-2A>G Single submitter isolated growth hormone deficiency type III
c.1567-2A>C Single submitter isolated growth hormone deficiency type III
c.1567-2A>G Single submitter isolated growth hormone deficiency type III
c.1631+2T>C Single submitter isolated growth hormone deficiency type III
c.1750+1G>A Single submitter isolated growth hormone deficiency type III
c.1750+1G>T Single submitter isolated growth hormone deficiency type III
c.1750+5G>A Single submitter isolated growth hormone deficiency type III
c.1751-1G>A Single submitter isolated growth hormone deficiency type III
c.1751-1G>C Single submitter isolated growth hormone deficiency type III
c.1751-1G>T Single submitter isolated growth hormone deficiency type III
c.1751-2A>G Single submitter isolated growth hormone deficiency type III
c.(240+1_241-1 Single submitter Bruton-type agammaglobulinemia
c.241-1G>C Single submitter isolated growth hormone deficiency type III
c.309+1G>A Single submitter isolated growth hormone deficiency type III
c.310-1G>C Single submitter isolated growth hormone deficiency type III
c.310dupG Single submitter Bruton-type agammaglobulinemia
c.391+1G>A Single submitter isolated growth hormone deficiency type III
c.418_424insSVA Single submitter Bruton-type agammaglobulinemia
c.495_(520+1_521-1 Single submitter Bruton-type agammaglobulinemia
c.520+1G>A Single submitter isolated growth hormone deficiency type III
c.521-1G>A Single submitter isolated growth hormone deficiency type III
c.588+1G>A Single submitter isolated growth hormone deficiency type III
c.588+2T>C Single submitter Bruton-type agammaglobulinemia
c.894+1G>C Single submitter isolated growth hormone deficiency type III
c.895-1G>A Single submitter
c.895-1G>T Single submitter isolated growth hormone deficiency type III
c.895-2A>T Single submitter isolated growth hormone deficiency type III
c.895-37_928del Single submitter isolated growth hormone deficiency type III
c.974+1G>A Single submitter isolated growth hormone deficiency type III
c.974+1G>T Single submitter isolated growth hormone deficiency type III
c.975-1G>T Single submitter isolated growth hormone deficiency type III
p.Ala622fs Single submitter isolated growth hormone deficiency type III
p.Arg253fs Single submitter
p.Arg288Gly Single submitter Bruton-type agammaglobulinemia
p.Arg520Gly Single submitter isolated growth hormone deficiency type III
p.Arg525Gly Single submitter isolated growth hormone deficiency type III
p.Arg544Gly Single submitter isolated growth hormone deficiency type III
p.Arg544Ser Single submitter isolated growth hormone deficiency type III
p.Asn130fs Single submitter isolated growth hormone deficiency type III
p.Asn172fs Single submitter isolated growth hormone deficiency type III
p.Asn360fs Single submitter
p.Asn526fs Single submitter BTK-related disorder
p.Asp548fs Single submitter isolated growth hormone deficiency type III
p.Cys155Ter Single submitter isolated growth hormone deficiency type III
p.Cys502Tyr Single submitter isolated growth hormone deficiency type III
p.Cys506Tyr Single submitter isolated growth hormone deficiency type III
p.Cys527Ser Single submitter
p.Gln103Ter Single submitter
p.Gln127fs Single submitter isolated growth hormone deficiency type III
p.Gln157Ter Single submitter
p.Gln15fs Single submitter isolated growth hormone deficiency type III
p.Gln166Ter Single submitter isolated growth hormone deficiency type III
p.Gln16Ter Single submitter
p.Gln260Ter Single submitter isolated growth hormone deficiency type III
p.Gln297Ter Single submitter isolated growth hormone deficiency type III
p.Gln379Ter Single submitter isolated growth hormone deficiency type III
p.Gln467Ter Single submitter isolated growth hormone deficiency type III
p.Gln497Ter Single submitter
p.Gln516Ter Single submitter isolated growth hormone deficiency type III
p.Gln78Ter Single submitter isolated growth hormone deficiency type III
p.Gln91Ter Single submitter Bruton-type agammaglobulinemia
p.Glu118fs Single submitter
p.Glu119fs Single submitter isolated growth hormone deficiency type III
p.Glu434Ter Single submitter isolated growth hormone deficiency type III
p.Glu513fs Single submitter isolated growth hormone deficiency type III
p.Glu567fs Single submitter isolated growth hormone deficiency type III
p.Glu567Ter Single submitter
p.Glu589Ter Single submitter isolated growth hormone deficiency type III
p.Glu65Ter Single submitter isolated growth hormone deficiency type III
p.Glu76fs Single submitter isolated growth hormone deficiency type III
p.Glu90fs Single submitter isolated growth hormone deficiency type III
p.Glu96Ter Single submitter isolated growth hormone deficiency type III
p.Gly303fs Single submitter isolated growth hormone deficiency type III
p.Gly368Glu Single submitter
p.Gly368Ter Single submitter isolated growth hormone deficiency type III
p.Gly391Ter Single submitter isolated growth hormone deficiency type III
p.Gly47fs Single submitter isolated growth hormone deficiency type III
p.Gly541_Leu542insArgAlaGlyGluArgArgProGlyGlySerGlyTrpArgSerGlyArgAlaProProGlyProArgAlaThrSerArgProGlnProXaaXaaXaaLysLysLysLysLysLysAsnLysValSerAspPheGly Single submitter isolated growth hormone deficiency type III
p.Gly594Arg Single submitter isolated growth hormone deficiency type III
p.Ile331fs Single submitter Bruton-type agammaglobulinemia
p.Ile355Asn Single submitter
p.Ile629_Ser632del Single submitter isolated growth hormone deficiency type III
p.Ile629fs Single submitter
p.Ile92fs Single submitter isolated growth hormone deficiency type III
p.Ile94fs Single submitter Bruton-type agammaglobulinemia
p.Leu11Pro Single submitter isolated growth hormone deficiency type III
p.Leu153fs Single submitter isolated growth hormone deficiency type III
p.Leu460Ter Single submitter isolated growth hormone deficiency type III
p.Leu498Val Single submitter isolated growth hormone deficiency type III
p.Leu512fs Single submitter Bruton-type agammaglobulinemia
p.Leu512Pro Single submitter isolated growth hormone deficiency type III
p.Leu593fs Single submitter isolated growth hormone deficiency type III
p.Lys183fs Single submitter isolated growth hormone deficiency type III
p.Lys199Ter Single submitter isolated growth hormone deficiency type III
p.Lys311Ter Single submitter isolated growth hormone deficiency type III
p.Lys417Ter Single submitter isolated growth hormone deficiency type III
p.Lys420fs Single submitter Bruton-type agammaglobulinemia
p.Lys515fs Single submitter isolated growth hormone deficiency type III
p.Lys52Ter Single submitter isolated growth hormone deficiency type III
p.Lys536Ter Single submitter isolated growth hormone deficiency type III
p.Met163fs Single submitter
p.Met477fs Single submitter
p.Met596fs Single submitter Bruton-type agammaglobulinemia
p.Phe146_Trp147insTer Single submitter isolated growth hormone deficiency type III
p.Phe320fs Single submitter isolated growth hormone deficiency type III
p.Phe644Ser Single submitter isolated growth hormone deficiency type III
p.Pro187fs Single submitter isolated growth hormone deficiency type III
p.Pro190fs Single submitter isolated growth hormone deficiency type III
p.Pro227fs Single submitter isolated growth hormone deficiency type III
p.Pro566Arg Single submitter isolated growth hormone deficiency type III
p.Pro566fs Single submitter isolated growth hormone deficiency type III
p.Ser14Tyr Single submitter
p.Ser156fs Single submitter isolated growth hormone deficiency type III
p.Ser21Ter Single submitter isolated growth hormone deficiency type III
p.Ser318fs Single submitter isolated growth hormone deficiency type III
p.Ser572fs Single submitter isolated growth hormone deficiency type III
p.Ser575Arg Single submitter isolated growth hormone deficiency type III
p.Ser93Ter Single submitter isolated growth hormone deficiency type III
p.Thr117Pro Single submitter isolated growth hormone deficiency type III
p.Thr628fs Single submitter isolated growth hormone deficiency type III
p.Thr643fs Single submitter isolated growth hormone deficiency type III
p.Trp252fs Single submitter isolated growth hormone deficiency type III
p.Trp395Ter Single submitter
p.Trp421Ter Single submitter isolated growth hormone deficiency type III
p.Trp563Ter Single submitter isolated growth hormone deficiency type III
p.Trp581Arg Single submitter Bruton-type agammaglobulinemia
p.Trp581fs Single submitter isolated growth hormone deficiency type III
p.Trp581Ter Single submitter isolated growth hormone deficiency type III
p.Tyr100Ter Single submitter Bruton-type agammaglobulinemia
p.Tyr112fs Single submitter isolated growth hormone deficiency type III
p.Tyr112His Single submitter isolated growth hormone deficiency type III
p.Tyr112Ter Single submitter isolated growth hormone deficiency type III
p.Tyr134Ter Single submitter isolated growth hormone deficiency type III
p.Tyr142Ter Single submitter isolated growth hormone deficiency type III
p.Tyr223Ter Single submitter
p.Tyr241Ter Single submitter Bruton-type agammaglobulinemia
p.Tyr279Ter Single submitter Inherited Immunodeficiency Diseases
p.Tyr375Ter Single submitter isolated growth hormone deficiency type III
p.Tyr392Ter Single submitter isolated growth hormone deficiency type III
p.Tyr461fs Single submitter
p.Tyr485Ter Single submitter Bruton-type agammaglobulinemia
p.Tyr598Asn Single submitter Bruton-type agammaglobulinemia
p.Tyr598Ter Single submitter
p.Tyr631Ter Single submitter isolated growth hormone deficiency type III
p.Val335Asp Single submitter Bruton-type agammaglobulinemia ⚠
p.Val427fs Single submitter isolated growth hormone deficiency type III
c.141+3_141+4del No assertion criteria Bruton-type agammaglobulinemia
c.141+3_141+6del No assertion criteria autosomal recessive agammaglobulinemia 1
c.1567-2A>T No assertion criteria autosomal recessive agammaglobulinemia 1
c.1630_1631+3delinsGAAA No assertion criteria autosomal recessive agammaglobulinemia 1
c.1631+1G>T No assertion criteria Bruton-type agammaglobulinemia
c.1632-2A>T No assertion criteria Bruton-type agammaglobulinemia
c.310-2A>G No assertion criteria Bruton-type agammaglobulinemia
c.894+191_1908+163del No assertion criteria Bruton-type agammaglobulinemia
c.895-2del No assertion criteria Bruton-type agammaglobulinemia
c.974+1del No assertion criteria Bruton-type agammaglobulinemia
c.-31+5G>A No assertion criteria Bruton-type agammaglobulinemia
p.Ala607Asp No assertion criteria Bruton-type agammaglobulinemia
p.Arg307Gly No assertion criteria Bruton-type agammaglobulinemia
p.Arg372Ser No assertion criteria autosomal recessive agammaglobulinemia 1
p.Asn530fs No assertion criteria Bruton-type agammaglobulinemia
p.Cys145Ter No assertion criteria autosomal recessive agammaglobulinemia 1
p.Cys502Ter No assertion criteria Bruton-type agammaglobulinemia
p.Gln496Ter No assertion criteria Bruton-type agammaglobulinemia
p.Glu240Ter No assertion criteria Bruton-type agammaglobulinemia
p.Glu589Gly No assertion criteria Bruton-type agammaglobulinemia
p.Glu636Ter No assertion criteria Bruton-type agammaglobulinemia
p.Gly54fs No assertion criteria autosomal recessive agammaglobulinemia 1
p.Ile197fs No assertion criteria Bruton-type agammaglobulinemia
p.Ile243fs No assertion criteria Bruton-type agammaglobulinemia
p.Ile56fs No assertion criteria Bruton-type agammaglobulinemia
p.Leu408Pro No assertion criteria Bruton-type agammaglobulinemia
p.Leu569Pro No assertion criteria autosomal recessive agammaglobulinemia 1
p.Leu652Pro No assertion criteria Bruton-type agammaglobulinemia
p.Lys218fs No assertion criteria Bruton-type agammaglobulinemia
p.Lys430Glu No assertion criteria Bruton-type agammaglobulinemia
p.Lys637delinsPheTer No assertion criteria Bruton-type agammaglobulinemia
p.Met630Lys No assertion criteria Bruton-type agammaglobulinemia
p.Ser214fs No assertion criteria Bruton-type agammaglobulinemia
p.Ser318Phe No assertion criteria autosomal recessive agammaglobulinemia 1
p.Ser378fs No assertion criteria Bruton-type agammaglobulinemia
p.Ser543Pro No assertion criteria Bruton-type agammaglobulinemia ⚠
p.Ser649fs No assertion criteria autosomal recessive agammaglobulinemia 1
p.Thr33Pro No assertion criteria Bruton-type agammaglobulinemia
p.Tyr334Ser No assertion criteria Bruton-type agammaglobulinemia
p.Tyr425Ter No assertion criteria Bruton-type agammaglobulinemia
p.Tyr42Ter No assertion criteria Bruton-type agammaglobulinemia
p.Val113Asp No assertion criteria Bruton-type agammaglobulinemia

Pathogenic/Likely pathogenic 19

c.1103-2A>G Multiple submitters isolated growth hormone deficiency type III
c.777-1G>A Multiple submitters Bruton-type agammaglobulinemia
c.777-2A>G Multiple submitters isolated growth hormone deficiency type III
c.894+1G>A Multiple submitters Bruton-type agammaglobulinemia
c.895-2A>G Multiple submitters isolated growth hormone deficiency type III
p.Arg288Trp Multiple submitters BTK-related disorder
p.Arg28Leu Multiple submitters Bruton-type agammaglobulinemia
p.Arg525Gln Multiple submitters BTK-related disorder
p.Arg562Pro Multiple submitters isolated growth hormone deficiency type III
p.Arg641Cys Multiple submitters isolated growth hormone deficiency type III
p.Gln15Ter Multiple submitters Inherited Immunodeficiency Diseases
p.Ile61Asn Multiple submitters isolated growth hormone deficiency type III
p.Met1Thr Multiple submitters isolated growth hormone deficiency type III
p.Met509Thr Multiple submitters Bruton-type agammaglobulinemia
p.Met630Thr Multiple submitters Bruton-type agammaglobulinemia
p.Pro80= Multiple submitters BTK-related disorder
p.Trp124Ter Multiple submitters Bruton-type agammaglobulinemia
p.Tyr591Ter Multiple submitters isolated growth hormone deficiency type III
p.Val269fs Multiple submitters Bruton-type agammaglobulinemia

Likely pathogenic 111

c.839+1G>C Multiple submitters isolated growth hormone deficiency type III
c.840-1G>A Multiple submitters Bruton-type agammaglobulinemia
c.974+5G>A Multiple submitters isolated growth hormone deficiency type III
p.Arg641Pro Multiple submitters Bruton-type agammaglobulinemia
p.Asn526Lys Multiple submitters isolated growth hormone deficiency type III
p.His454Arg Multiple submitters isolated growth hormone deficiency type III
p.Tyr598Cys Multiple submitters isolated growth hormone deficiency type III
c.1103-2A>C Single submitter
c.1300_1909-813del Single submitter isolated growth hormone deficiency type III
c.1349+4A>T Single submitter BTK-related disorder
c.141+1G>C Single submitter isolated growth hormone deficiency type III
c.1566_1566+9del Single submitter Bruton-type agammaglobulinemia
c.1566+1G>A Single submitter BTK-related disorder
c.1567-117_1604del Single submitter isolated growth hormone deficiency type III
c.1631+5G>C Single submitter isolated growth hormone deficiency type III
c.1908+1G>T Single submitter isolated growth hormone deficiency type III
c.1908+2dup Single submitter isolated growth hormone deficiency type III
c.1909-2A>G Single submitter Agammaglobulinaemia with absent BTK expression
c.240+109C>A Single submitter isolated growth hormone deficiency type III
c.241_260dup Single submitter Bruton-type agammaglobulinemia
c.588+2T>A Single submitter Bruton-type agammaglobulinemia
c.776+1del Single submitter Bruton-type agammaglobulinemia
c.776+2T>C Single submitter isolated growth hormone deficiency type III
c.839+1G>A Single submitter BTK-related disorder
c.842_844delGGT Single submitter
c.974+5G>C Single submitter isolated growth hormone deficiency type III
c.975-2A>G Single submitter BTK-related disorder
c.-31+5G>T Single submitter
p.Ala162fs Single submitter
p.Ala582Val Single submitter isolated growth hormone deficiency type III
p.Arg562Gln Single submitter Bruton-type agammaglobulinemia
p.Arg615His Single submitter Bruton-type agammaglobulinemia
p.Arg618fs Single submitter Bruton-type agammaglobulinemia
p.Asn267fs Single submitter Bruton-type agammaglobulinemia
p.Asp521Glu Single submitter isolated growth hormone deficiency type III
p.Asp521Gly Single submitter BTK-related disorder
p.Cys154Gly Single submitter isolated growth hormone deficiency type III
p.Cys155Gly Single submitter Bruton-type agammaglobulinemia
p.Cys165Tyr Single submitter isolated growth hormone deficiency type III
p.Cys527Tyr Single submitter Inherited Immunodeficiency Diseases
p.Gln151Ter Single submitter Bruton-type agammaglobulinemia
p.Gln196His Single submitter ⚠
p.Gln516del Single submitter
p.Gln78fs Single submitter Bruton-type agammaglobulinemia
p.Glu277Ter Single submitter Bruton-type agammaglobulinemia
p.Glu45_Arg46del Single submitter isolated growth hormone deficiency type III
p.Glu567Asp Single submitter BTK-related disorder
p.Glu589Asp Single submitter isolated growth hormone deficiency type III
p.Glu589Lys Single submitter BTK-related disorder
p.Gly302Arg Single submitter Bruton-type agammaglobulinemia
p.Gly303del Single submitter
p.Gly541Cys Single submitter Bruton-type agammaglobulinemia
p.Gly613Asp Single submitter Bruton-type agammaglobulinemia
p.His362Tyr Single submitter BTK-related disorder ⚠
p.His454Leu Single submitter isolated growth hormone deficiency type III
p.His454Pro Single submitter isolated growth hormone deficiency type III
p.His519Gln Single submitter BTK-related disorder
p.Ile359Thr Single submitter isolated growth hormone deficiency type III
p.Ile56Thr Single submitter isolated growth hormone deficiency type III
p.Leu111Arg Single submitter isolated growth hormone deficiency type III
p.Leu295Pro Single submitter isolated growth hormone deficiency type III
p.Leu358Phe Single submitter isolated growth hormone deficiency type III
p.Leu373Ile Single submitter isolated growth hormone deficiency type III
p.Leu452Pro Single submitter Bruton-type agammaglobulinemia
p.Leu512Gln Single submitter isolated growth hormone deficiency type III
p.Leu586Ser Single submitter
p.Leu614fs Single submitter
p.Leu647fs Single submitter
p.Lys12Asn Single submitter Bruton-type agammaglobulinemia
p.Lys314= Single submitter BTK-related disorder
p.Lys430Arg Single submitter Bruton-type agammaglobulinemia
p.Lys558fs Single submitter Bruton-type agammaglobulinemia
p.Lys573fs Single submitter Bruton-type agammaglobulinemia
p.Met1Val Single submitter Agammaglobulinaemia with absent BTK expression
p.Met509Ile Single submitter
p.Met587Thr Single submitter
p.Met596Thr Single submitter common variable immunodeficiency ⚠
p.Met630Leu Single submitter
p.Phe102Ser Single submitter isolated growth hormone deficiency type III
p.Phe583Ser Single submitter Agammaglobulinaemia with absent BTK expression
p.Phe583Val Single submitter isolated growth hormone deficiency type III
p.Phe644Leu Single submitter isolated growth hormone deficiency type III
p.Pro565Leu Single submitter isolated growth hormone deficiency type III
p.Pro566Ser Single submitter isolated growth hormone deficiency type III
p.Pro597Leu Single submitter isolated growth hormone deficiency type III
p.Pro642fs Single submitter Bruton-type agammaglobulinemia
p.Pro642Leu Single submitter Bruton-type agammaglobulinemia
p.Ser371Pro Single submitter
p.Ser55Ter Single submitter Bruton-type agammaglobulinemia
p.Ter660Gly Single submitter
p.Thr316Ala Single submitter ⚠
p.Thr602Ile Single submitter
p.Trp124Arg Single submitter
p.Trp124Cys Single submitter Bruton-type agammaglobulinemia
p.Trp281Ter Single submitter Bruton-type agammaglobulinemia
p.Trp563Leu Single submitter
p.Trp588Arg Single submitter isolated growth hormone deficiency type III
p.Trp588Leu Single submitter isolated growth hormone deficiency type III
p.Trp634Ser Single submitter isolated growth hormone deficiency type III
p.Trp634Ter Single submitter Primary immunodeficiency or monogenic inflammatory bowel disease
p.Tyr152Cys Single submitter isolated growth hormone deficiency type III
p.Tyr361Cys Single submitter isolated growth hormone deficiency type III
p.Tyr40fs Single submitter BTK-related disorder
p.Tyr545Ter Single submitter Bruton-type agammaglobulinemia
p.Tyr571Ter Single submitter Bruton-type agammaglobulinemia
p.Tyr591fs Single submitter Bruton-type agammaglobulinemia
p.Tyr598Ser Single submitter isolated growth hormone deficiency type III
p.Tyr627Ter Single submitter Agammaglobulinaemia with absent BTK expression
p.Val505Phe Single submitter isolated growth hormone deficiency type III
p.Val67fs Single submitter BTK-related disorder
p.Glu41fs No assertion criteria Bruton-type agammaglobulinemia

Conflicting classifications of pathogenicity 23

c.141+11C>T Single submitter Bruton-type agammaglobulinemia
c.142-205A>G Single submitter BTK-related disorder
c.142-8C>T Single submitter isolated growth hormone deficiency type III
c.1567-12_1567-9del Single submitter Bruton-type agammaglobulinemia
c.1909-9T>C Single submitter Bruton-type agammaglobulinemia
c.520+15C>T Single submitter Bruton-type agammaglobulinemia
c.894+7G>A Single submitter isolated growth hormone deficiency type III
p.Arg255Gln Single submitter Inherited Immunodeficiency Diseases ⚠
p.Arg492His Single submitter Bruton-type agammaglobulinemia ⚠
p.Asp504Val Single submitter isolated growth hormone deficiency type III ⚠
p.Cys481Ser Single submitter isolated growth hormone deficiency type III ⚠
p.His333Arg Single submitter isolated growth hormone deficiency type III ⚠
p.Leu198Ser Single submitter Inborn genetic diseases ⚠
p.Leu542Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Leu648= Single submitter isolated growth hormone deficiency type III
p.Lys284= Single submitter Bruton-type agammaglobulinemia
p.Met587Ile Single submitter Bruton-type agammaglobulinemia ⚠
p.Pro566Leu Single submitter Bruton-type agammaglobulinemia ⚠
p.Pro597Ser Single submitter isolated growth hormone deficiency type III ⚠
p.Ser174= Single submitter isolated growth hormone deficiency type III
p.Ser289Arg Single submitter isolated growth hormone deficiency type III ⚠
p.Ser623Leu Single submitter isolated growth hormone deficiency type III ⚠
p.Ser659= Single submitter Bruton-type agammaglobulinemia

Benign 53

c.1350-176C>T Multiple submitters
c.1631+71C>T Multiple submitters isolated growth hormone deficiency type III
c.1908+142G>A Multiple submitters
c.241-175G>A Multiple submitters
c.310-124A>G Multiple submitters
c.391+143dup Multiple submitters
c.588+172G>A Multiple submitters
c.776+78G>A Multiple submitters isolated growth hormone deficiency type III
c.839+51C>A Multiple submitters
c.839+53A>C Multiple submitters
c.*116A>C Multiple submitters Bruton-type agammaglobulinemia
c.*192G>A Multiple submitters isolated growth hormone deficiency type III
c.*334T>G Multiple submitters isolated growth hormone deficiency type III
p.Ser318= Multiple submitters isolated growth hormone deficiency type III
c.1177+7C>T Single submitter isolated growth hormone deficiency type III
c.1178-12C>T Single submitter isolated growth hormone deficiency type III
c.1350-29A>G Single submitter
c.1566+18T>C Single submitter isolated growth hormone deficiency type III
c.1750+10T>C Single submitter isolated growth hormone deficiency type III
c.1751-11del Single submitter isolated growth hormone deficiency type III
c.1751-17T>C Single submitter isolated growth hormone deficiency type III
c.1908+123del Single submitter
c.1908+278dup Single submitter
c.1908+302C>T Single submitter
c.1909-149dup Single submitter
c.240+12_240+24del Single submitter isolated growth hormone deficiency type III
c.240+7A>C Single submitter isolated growth hormone deficiency type III
c.241-3C>T Single submitter isolated growth hormone deficiency type III
c.309+11T>C Single submitter isolated growth hormone deficiency type III
c.310-20C>A Single submitter isolated growth hormone deficiency type III
c.310-226G>A Single submitter
c.310-8C>T Single submitter isolated growth hormone deficiency type III
c.391+251_391+253del Single submitter
c.391+251_391+257del Single submitter
c.520+13A>G Single submitter isolated growth hormone deficiency type III
c.520+15C>G Single submitter isolated growth hormone deficiency type III
c.520+16G>A Single submitter isolated growth hormone deficiency type III
c.521-5del Single submitter isolated growth hormone deficiency type III
c.72+3927C>T Single submitter
c.777-17C>A Single submitter isolated growth hormone deficiency type III
c.839+194G>C Single submitter
c.839+41CT[7] Single submitter
c.839+53AT[8] Single submitter
c.840-262G>A Single submitter
c.895-11C>T Single submitter isolated growth hormone deficiency type III
c.-30-198C>T Single submitter
c.*221G>T Single submitter Bruton-type agammaglobulinemia
p.Ala159= Single submitter isolated growth hormone deficiency type III
p.Asp426Asn Single submitter isolated growth hormone deficiency type III
p.Cys337= Single submitter isolated growth hormone deficiency type III
p.Leu138= Single submitter isolated growth hormone deficiency type III
p.Met9Ile Single submitter
p.Thr495= Single submitter isolated growth hormone deficiency type III

Benign/Likely benign 17

c.1102+7A>G Multiple submitters isolated growth hormone deficiency type III
c.1103-11C>G Multiple submitters isolated growth hormone deficiency type III
c.1350-17C>A Multiple submitters isolated growth hormone deficiency type III
c.1632-20A>C Multiple submitters isolated growth hormone deficiency type III
c.241-16dup Multiple submitters isolated growth hormone deficiency type III
c.895-10G>A Multiple submitters isolated growth hormone deficiency type III
p.Ala209Ser Multiple submitters isolated growth hormone deficiency type III
p.Arg236Gln Multiple submitters isolated growth hormone deficiency type III
p.Cys633= Multiple submitters Bruton-type agammaglobulinemia
p.Glu205Asp Multiple submitters Bruton-type agammaglobulinemia
p.Glu513= Multiple submitters isolated growth hormone deficiency type III
p.Glu567= Multiple submitters isolated growth hormone deficiency type III
p.Gly368= Multiple submitters Inborn genetic diseases
p.Pro177= Multiple submitters isolated growth hormone deficiency type III
p.Pro566= Multiple submitters isolated growth hormone deficiency type III
p.Ser115= Multiple submitters isolated growth hormone deficiency type III
p.Tyr418His Multiple submitters Bruton-type agammaglobulinemia

Likely benign 208

c.240+10G>C Multiple submitters isolated growth hormone deficiency type III
c.240+17G>C Multiple submitters isolated growth hormone deficiency type III
c.241-7A>G Multiple submitters isolated growth hormone deficiency type III
c.974+17C>T Multiple submitters isolated growth hormone deficiency type III
p.Ala2= Multiple submitters isolated growth hormone deficiency type III
p.Asp239Glu Multiple submitters isolated growth hormone deficiency type III
p.Gln494= Multiple submitters isolated growth hormone deficiency type III
p.Phe413= Multiple submitters isolated growth hormone deficiency type III
p.Pro597= Multiple submitters isolated growth hormone deficiency type III
c.1102+13G>A Single submitter isolated growth hormone deficiency type III
c.1102+20G>A Single submitter isolated growth hormone deficiency type III
c.1103-17C>G Single submitter isolated growth hormone deficiency type III
c.1103-17CT[4] Single submitter isolated growth hormone deficiency type III
c.1103-23_1103-20del Single submitter isolated growth hormone deficiency type III
c.1177+6T>G Single submitter
c.1177+8C>T Single submitter isolated growth hormone deficiency type III
c.1178-17C>G Single submitter isolated growth hormone deficiency type III
c.1178-19A>C Single submitter isolated growth hormone deficiency type III
c.1178-207C>T Single submitter
c.1178-8A>T Single submitter isolated growth hormone deficiency type III
c.1178-9T>C Single submitter isolated growth hormone deficiency type III
c.1349+11G>C Single submitter isolated growth hormone deficiency type III
c.1349+18C>T Single submitter isolated growth hormone deficiency type III
c.1349+20C>T Single submitter isolated growth hormone deficiency type III
c.1349+7T>G Single submitter isolated growth hormone deficiency type III
c.1350-4G>A Single submitter isolated growth hormone deficiency type III
c.1350-6C>T Single submitter isolated growth hormone deficiency type III
c.1350-9T>C Single submitter isolated growth hormone deficiency type III
c.141+12G>A Single submitter isolated growth hormone deficiency type III
c.141+13A>G Single submitter isolated growth hormone deficiency type III
c.141+16A>G Single submitter isolated growth hormone deficiency type III
c.141+19A>C Single submitter isolated growth hormone deficiency type III
c.142-12T>A Single submitter isolated growth hormone deficiency type III
c.142-12T>C Single submitter isolated growth hormone deficiency type III
c.142-16T>A Single submitter isolated growth hormone deficiency type III
c.142-189T>C Single submitter
c.142-4_142-3del Single submitter
c.142-4T>C Single submitter isolated growth hormone deficiency type III
c.142-5del Single submitter isolated growth hormone deficiency type III
c.142-9A>G Single submitter isolated growth hormone deficiency type III
c.1566+20G>A Single submitter isolated growth hormone deficiency type III
c.1566+7C>T Single submitter isolated growth hormone deficiency type III
c.1567-31G>A Single submitter
c.1567-8C>T Single submitter isolated growth hormone deficiency type III
c.1567-9G>T Single submitter isolated growth hormone deficiency type III
c.1631+18A>T Single submitter isolated growth hormone deficiency type III
c.1632-15C>T Single submitter isolated growth hormone deficiency type III
c.1632-18G>A Single submitter isolated growth hormone deficiency type III
c.1632-20A>T Single submitter isolated growth hormone deficiency type III
c.1750+11A>G Single submitter isolated growth hormone deficiency type III
c.1750+16T>A Single submitter isolated growth hormone deficiency type III
c.1751-13T>C Single submitter isolated growth hormone deficiency type III
c.1751-16T>C Single submitter isolated growth hormone deficiency type III
c.1751-18A>C Single submitter isolated growth hormone deficiency type III
c.1751-18A>T Single submitter isolated growth hormone deficiency type III
c.1751-8C>T Single submitter isolated growth hormone deficiency type III
c.1908+18A>G Single submitter isolated growth hormone deficiency type III
c.1908+18A>T Single submitter isolated growth hormone deficiency type III
c.1908+294del Single submitter
c.1908+7G>T Single submitter isolated growth hormone deficiency type III
c.1909-134del Single submitter
c.1909-17T>G Single submitter isolated growth hormone deficiency type III
c.1909-18C>T Single submitter isolated growth hormone deficiency type III
c.1909-20T>C Single submitter isolated growth hormone deficiency type III
c.1909-7G>A Single submitter isolated growth hormone deficiency type III
c.240+105C>T Single submitter
c.240+15A>G Single submitter isolated growth hormone deficiency type III
c.240+8G>A Single submitter isolated growth hormone deficiency type III
c.240+97G>A Single submitter
c.240+9A>T Single submitter isolated growth hormone deficiency type III
c.241-4A>G Single submitter isolated growth hormone deficiency type III
c.241-5T>C Single submitter isolated growth hormone deficiency type III
c.309+13C>T Single submitter isolated growth hormone deficiency type III
c.309+17C>T Single submitter isolated growth hormone deficiency type III
c.309+8A>C Single submitter isolated growth hormone deficiency type III
c.309+8A>G Single submitter isolated growth hormone deficiency type III
c.310-19T>A Single submitter isolated growth hormone deficiency type III
c.310-22G>C Single submitter
c.310-4C>A Single submitter isolated growth hormone deficiency type III
c.310-5C>T Single submitter isolated growth hormone deficiency type III
c.310-7G>A Single submitter isolated growth hormone deficiency type III
c.391+165_391+168del Single submitter
c.391+19A>T Single submitter isolated growth hormone deficiency type III
c.392-14_392-12del Single submitter
c.392-8T>C Single submitter isolated growth hormone deficiency type III
c.520+17A>C Single submitter isolated growth hormone deficiency type III
c.520+18T>C Single submitter isolated growth hormone deficiency type III
c.520+19A>G Single submitter isolated growth hormone deficiency type III
c.521-11T>C Single submitter isolated growth hormone deficiency type III
c.521-16G>C Single submitter isolated growth hormone deficiency type III
c.521-5T>C Single submitter isolated growth hormone deficiency type III
c.588+14C>G Single submitter isolated growth hormone deficiency type III
c.589-12C>T Single submitter isolated growth hormone deficiency type III
c.589-13C>T Single submitter isolated growth hormone deficiency type III
c.589-17T>C Single submitter isolated growth hormone deficiency type III
c.589-4A>G Single submitter isolated growth hormone deficiency type III
c.776+16C>T Single submitter isolated growth hormone deficiency type III
c.777-16A>G Single submitter isolated growth hormone deficiency type III
c.777-16A>T Single submitter
c.777-20C>A Single submitter
c.777-9C>G Single submitter isolated growth hormone deficiency type III
c.839+19G>A Single submitter isolated growth hormone deficiency type III
c.839+19G>T Single submitter isolated growth hormone deficiency type III
c.840-17G>T Single submitter isolated growth hormone deficiency type III
c.840-8C>T Single submitter isolated growth hormone deficiency type III
c.894+15A>C Single submitter isolated growth hormone deficiency type III
c.894+9G>A Single submitter isolated growth hormone deficiency type III
c.895-13T>C Single submitter isolated growth hormone deficiency type III
c.895-7G>T Single submitter isolated growth hormone deficiency type III
c.974+18A>G Single submitter isolated growth hormone deficiency type III
c.974+19A>G Single submitter isolated growth hormone deficiency type III
c.974+7G>A Single submitter isolated growth hormone deficiency type III
c.975-19T>G Single submitter isolated growth hormone deficiency type III
c.975-4T>G Single submitter isolated growth hormone deficiency type III
c.975-7T>C Single submitter isolated growth hormone deficiency type III
c.-30-162C>A Single submitter
p.Ala208= Single submitter isolated growth hormone deficiency type III
p.Ala388= Single submitter
p.Ala428= Single submitter isolated growth hormone deficiency type III
p.Ala508= Single submitter isolated growth hormone deficiency type III
p.Ala582= Single submitter
p.Ala611= Single submitter isolated growth hormone deficiency type III
p.Ala611Ser Single submitter isolated growth hormone deficiency type III
p.Arg121= Single submitter isolated growth hormone deficiency type III
p.Arg13= Single submitter isolated growth hormone deficiency type III
p.Arg133= Single submitter isolated growth hormone deficiency type III
p.Arg422= Single submitter isolated growth hormone deficiency type III
p.Arg525= Single submitter isolated growth hormone deficiency type III
p.Arg600= Single submitter isolated growth hormone deficiency type III
p.Arg618= Single submitter isolated growth hormone deficiency type III
p.Asn172= Single submitter isolated growth hormone deficiency type III
p.Asn530= Single submitter isolated growth hormone deficiency type III
p.Asn72Lys Single submitter isolated growth hormone deficiency type III
p.Asp107= Single submitter isolated growth hormone deficiency type III
p.Asp232= Single submitter isolated growth hormone deficiency type III
p.Asp579= Single submitter isolated growth hormone deficiency type III
p.Cys464= Single submitter isolated growth hormone deficiency type III
p.Cys63= Single submitter isolated growth hormone deficiency type III
p.Gln140= Single submitter isolated growth hormone deficiency type III
p.Gln293= Single submitter isolated growth hormone deficiency type III
p.Gln380= Single submitter isolated growth hormone deficiency type III
p.Gln424= Single submitter isolated growth hormone deficiency type III
p.Gln459= Single submitter isolated growth hormone deficiency type III
p.Gln78= Single submitter isolated growth hormone deficiency type III
p.Glu119= Single submitter isolated growth hormone deficiency type III
p.Glu193Gln Single submitter isolated growth hormone deficiency type III
p.Glu439= Single submitter isolated growth hormone deficiency type III
p.Glu455= Single submitter isolated growth hormone deficiency type III
p.Glu608Lys Single submitter isolated growth hormone deficiency type III
p.Gly164= Single submitter isolated growth hormone deficiency type III
p.Gly389= Single submitter
p.Gly462= Single submitter isolated growth hormone deficiency type III
p.Gly50= Single submitter isolated growth hormone deficiency type III
p.Gly584= Single submitter isolated growth hormone deficiency type III
p.His181= Single submitter isolated growth hormone deficiency type III
p.Ile148= Single submitter isolated growth hormone deficiency type III
p.Ile472= Single submitter isolated growth hormone deficiency type III
p.Leu153Ile Single submitter isolated growth hormone deficiency type III ⚠
p.Leu168= Single submitter isolated growth hormone deficiency type III
p.Leu295= Single submitter isolated growth hormone deficiency type III
p.Leu351= Single submitter isolated growth hormone deficiency type III
p.Leu369= Single submitter
p.Leu460= Single submitter isolated growth hormone deficiency type III
p.Leu486= Single submitter isolated growth hormone deficiency type III
p.Leu512= Single submitter isolated growth hormone deficiency type III
p.Leu542= Single submitter isolated growth hormone deficiency type III
p.Lys12= Single submitter isolated growth hormone deficiency type III
p.Lys27= Single submitter isolated growth hormone deficiency type III
p.Lys300= Single submitter isolated growth hormone deficiency type III
p.Lys417= Single submitter isolated growth hormone deficiency type III
p.Met228Ile Single submitter
p.Met655Ile Single submitter isolated growth hormone deficiency type III
p.Phe540= Single submitter isolated growth hormone deficiency type III
p.Phe98= Single submitter isolated growth hormone deficiency type III
p.Pro101= Single submitter isolated growth hormone deficiency type III
p.Pro187= Single submitter isolated growth hormone deficiency type III
p.Pro192= Single submitter isolated growth hormone deficiency type III
p.Pro203= Single submitter isolated growth hormone deficiency type III
p.Pro203Leu Single submitter isolated growth hormone deficiency type III ⚠
p.Pro385= Single submitter isolated growth hormone deficiency type III
p.Pro399= Single submitter isolated growth hormone deficiency type III
p.Ser21= Single submitter isolated growth hormone deficiency type III
p.Ser554= Single submitter isolated growth hormone deficiency type III
p.Ser564= Single submitter isolated growth hormone deficiency type III
p.Ser86= Single submitter isolated growth hormone deficiency type III
p.Ser93= Single submitter isolated growth hormone deficiency type III
p.Thr117= Single submitter isolated growth hormone deficiency type III
p.Thr191= Single submitter isolated growth hormone deficiency type III
p.Thr20= Single submitter isolated growth hormone deficiency type III
p.Thr213= Single submitter isolated growth hormone deficiency type III
p.Thr287= Single submitter isolated growth hormone deficiency type III
p.Thr33= Single submitter isolated growth hormone deficiency type III
p.Thr628= Single submitter isolated growth hormone deficiency type III
p.Tyr106= Single submitter isolated growth hormone deficiency type III
p.Tyr112= Single submitter isolated growth hormone deficiency type III
p.Tyr268= Single submitter isolated growth hormone deficiency type III
p.Tyr282= Single submitter isolated growth hormone deficiency type III
p.Tyr345= Single submitter isolated growth hormone deficiency type III
p.Tyr361= Single submitter isolated growth hormone deficiency type III
p.Tyr392= Single submitter isolated growth hormone deficiency type III
p.Tyr425= Single submitter isolated growth hormone deficiency type III
p.Tyr476= Single submitter isolated growth hormone deficiency type III
p.Val211= Single submitter isolated growth hormone deficiency type III
p.Val306= Single submitter
p.Val336= Single submitter isolated growth hormone deficiency type III
p.Val415= Single submitter isolated growth hormone deficiency type III
p.Val534= Single submitter isolated growth hormone deficiency type III
p.Asp426= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma

Uncertain significance 197

c.1908+5G>T Multiple submitters isolated growth hormone deficiency type III
c.310-8C>A Multiple submitters isolated growth hormone deficiency type III
c.894+3A>G Multiple submitters isolated growth hormone deficiency type III
p.Ala3Thr Multiple submitters isolated growth hormone deficiency type III ⚠
p.Arg492Pro Multiple submitters isolated growth hormone deficiency type III ⚠
p.Arg615Cys Multiple submitters isolated growth hormone deficiency type III ⚠
p.Asn161Thr Multiple submitters BTK-related disorder ⚠
p.Asp107Tyr Multiple submitters isolated growth hormone deficiency type III ⚠
p.Glu240Asp Multiple submitters BTK-related disorder ⚠
p.Glu298Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu608Gly Multiple submitters isolated growth hormone deficiency type III ⚠
p.Ile443Thr Multiple submitters isolated growth hormone deficiency type III ⚠
p.Lys314Arg Multiple submitters Inborn genetic diseases ⚠
p.Met286Thr Multiple submitters isolated growth hormone deficiency type III
p.Phe304Cys Multiple submitters Inborn genetic diseases ⚠
p.Pro327Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser115Phe Multiple submitters Bruton-type agammaglobulinemia ⚠
p.Thr191Met Multiple submitters Inborn genetic diseases
p.Trp634Arg Multiple submitters Bruton-type agammaglobulinemia ⚠
p.Val113Ile Multiple submitters isolated growth hormone deficiency type III ⚠
p.Val34Met Multiple submitters Bruton-type agammaglobulinemia ⚠
c.1178-11T>A Single submitter isolated growth hormone deficiency type III
c.1349+2dup Single submitter isolated growth hormone deficiency type III
c.1349+5G>T Single submitter isolated growth hormone deficiency type III
c.1349+6T>G Single submitter isolated growth hormone deficiency type III
c.141+5G>C Single submitter
c.1567-23A>C Single submitter
c.1631+5G>A Single submitter isolated growth hormone deficiency type III
c.1631+6T>G Single submitter isolated growth hormone deficiency type III
c.1632-11_1632-6del Single submitter isolated growth hormone deficiency type III
c.1632-3C>A Single submitter isolated growth hormone deficiency type III
c.1909-1G>A Single submitter isolated growth hormone deficiency type III
c.240+2dup Single submitter isolated growth hormone deficiency type III
c.391+333T>C Single submitter
c.391+3G>A Single submitter
c.391+5G>T Single submitter isolated growth hormone deficiency type III
c.588+3A>G Single submitter isolated growth hormone deficiency type III
c.588+4T>C Single submitter isolated growth hormone deficiency type III
c.588+5A>C Single submitter isolated growth hormone deficiency type III
c.589-7T>G Single submitter
c.777-3C>G Single submitter Bruton-type agammaglobulinemia
c.839+4_839+7del Single submitter isolated growth hormone deficiency type III
c.839+5_839+6insAGAAATGTATGAGTAAGGCTGACTGTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCATGTTGCTCACACAAAGCCTGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA Single submitter isolated growth hormone deficiency type III
c.839+5G>T Single submitter isolated growth hormone deficiency type III
c.840-3C>G Single submitter isolated growth hormone deficiency type III
c.894+2dup Single submitter isolated growth hormone deficiency type III
c.895-12T>C Single submitter isolated growth hormone deficiency type III
c.-105G>T Single submitter isolated growth hormone deficiency type III
c.-189G>A Single submitter
c.-31+1G>A Single submitter isolated growth hormone deficiency type III
c.-31+6T>C Single submitter isolated growth hormone deficiency type III
c.-87C>T Single submitter isolated growth hormone deficiency type III
c.*101del Single submitter
c.*342T>G Single submitter isolated growth hormone deficiency type III
c.*390G>A Single submitter Bruton-type agammaglobulinemia
p.Ala208Ile Single submitter
p.Ala272Gly Single submitter isolated growth hormone deficiency type III ⚠
p.Ala291Asp Single submitter isolated growth hormone deficiency type III ⚠
p.Ala312Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Ala347Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Ala428Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Ala524Val Single submitter isolated growth hormone deficiency type III ⚠
p.Ala607Thr Single submitter isolated growth hormone deficiency type III ⚠
p.Ala611Asp Single submitter isolated growth hormone deficiency type III ⚠
p.Ala622Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Arg123Gln Single submitter Inborn genetic diseases ⚠
p.Arg123Trp Single submitter isolated growth hormone deficiency type III ⚠
p.Arg133Trp Single submitter isolated growth hormone deficiency type III ⚠
p.Arg182Trp Single submitter isolated growth hormone deficiency type III
p.Arg236Trp Single submitter isolated growth hormone deficiency type III ⚠
p.Arg253Lys Single submitter isolated growth hormone deficiency type III ⚠
p.Arg288Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Arg468Leu Single submitter ⚠
p.Arg490Cys Single submitter isolated growth hormone deficiency type III ⚠
p.Arg490His Single submitter isolated growth hormone deficiency type III ⚠
p.Arg520Leu Single submitter isolated growth hormone deficiency type III ⚠
p.Arg544Lys Single submitter isolated growth hormone deficiency type III ⚠
p.Arg615Leu Single submitter isolated growth hormone deficiency type III ⚠
p.Arg618Gly Single submitter ⚠
p.Arg641Leu Single submitter isolated growth hormone deficiency type III ⚠
p.Asn130= Single submitter isolated growth hormone deficiency type III
p.Asn365Lys Single submitter ⚠
p.Asn365Tyr Single submitter isolated growth hormone deficiency type III ⚠
p.Asp137Gly Single submitter isolated growth hormone deficiency type III ⚠
p.Asp149Asn Single submitter Inborn genetic diseases ⚠
p.Asp232Tyr Single submitter isolated growth hormone deficiency type III ⚠
p.Asp326Glu Single submitter isolated growth hormone deficiency type III ⚠
p.Asp531Tyr Single submitter isolated growth hormone deficiency type III ⚠
p.Asp579Asn Single submitter ⚠
p.Cys165Arg Single submitter isolated growth hormone deficiency type III ⚠
p.Cys464Phe Single submitter isolated growth hormone deficiency type III ⚠
p.Cys506Arg Single submitter isolated growth hormone deficiency type III ⚠
p.Cys506Phe Single submitter isolated growth hormone deficiency type III ⚠
p.Cys63Phe Single submitter isolated growth hormone deficiency type III ⚠
p.Cys63Ser Single submitter isolated growth hormone deficiency type III ⚠
p.Gln103Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Gln196Lys Single submitter isolated growth hormone deficiency type III ⚠
p.Gln380Glu Single submitter isolated growth hormone deficiency type III ⚠
p.Gln424His Single submitter isolated growth hormone deficiency type III
p.Gln496Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Gln497His Single submitter isolated growth hormone deficiency type III ⚠
p.Glu119Lys Single submitter isolated growth hormone deficiency type III ⚠
p.Glu194Lys Single submitter isolated growth hormone deficiency type III ⚠
p.Glu246Gln Single submitter isolated growth hormone deficiency type III ⚠
p.Glu357Lys Single submitter isolated growth hormone deficiency type III ⚠
p.Glu488Lys Single submitter isolated growth hormone deficiency type III ⚠
p.Glu500Asp Single submitter ⚠
p.Gly150Glu Single submitter Bruton-type agammaglobulinemia ⚠
p.Gly173Glu Single submitter isolated growth hormone deficiency type III
p.Gly178Arg Single submitter isolated growth hormone deficiency type III ⚠
p.Gly262Val Single submitter isolated growth hormone deficiency type III ⚠
p.Gly302Val Single submitter isolated growth hormone deficiency type III ⚠
p.Gly303Asp Single submitter isolated growth hormone deficiency type III ⚠
p.Gly303Ser Single submitter isolated growth hormone deficiency type III ⚠
p.Gly393Arg Single submitter isolated growth hormone deficiency type III ⚠
p.Gly435Val Single submitter Bruton-type agammaglobulinemia ⚠
p.Gly556Ser Single submitter isolated growth hormone deficiency type III ⚠
p.Gly584Glu Single submitter isolated growth hormone deficiency type III ⚠
p.His333Pro Single submitter isolated growth hormone deficiency type III ⚠
p.His333Tyr Single submitter isolated growth hormone deficiency type III ⚠
p.His519Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Ile355Thr Single submitter isolated growth hormone deficiency type III ⚠
p.Ile432Asn Single submitter isolated growth hormone deficiency type III ⚠
p.Ile473Asn Single submitter isolated growth hormone deficiency type III ⚠
p.Ile56Val Single submitter ⚠
p.Ile629Val Single submitter isolated growth hormone deficiency type III ⚠
p.Ile651Ser Single submitter Bruton-type agammaglobulinemia ⚠
p.Ile94Met Single submitter isolated growth hormone deficiency type III
p.Ile9Asn Single submitter isolated growth hormone deficiency type III ⚠
p.Leu111Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Leu11Met Single submitter isolated growth hormone deficiency type III ⚠
p.Leu120Pro Single submitter ⚠
p.Leu294Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Leu373His Single submitter Bruton-type agammaglobulinemia ⚠
p.Leu482Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Leu512Arg Single submitter isolated growth hormone deficiency type III ⚠
p.Leu518Arg Single submitter isolated growth hormone deficiency type III ⚠
p.Leu522Arg Single submitter ⚠
p.Leu593Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Lys18Glu Single submitter isolated growth hormone deficiency type III ⚠
p.Lys26Arg Single submitter isolated growth hormone deficiency type III ⚠
p.Lys300Arg Single submitter ⚠
p.Lys382Glu Single submitter isolated growth hormone deficiency type III ⚠
p.Lys536Glu Single submitter isolated growth hormone deficiency type III ⚠
p.Lys577Thr Single submitter isolated growth hormone deficiency type III ⚠
p.Met437Ile Single submitter isolated growth hormone deficiency type III ⚠
p.Met477Ile Single submitter isolated growth hormone deficiency type III ⚠
p.Met587Leu Single submitter isolated growth hormone deficiency type III
p.Phe146Leu Single submitter ⚠
p.Phe25Ser Single submitter isolated growth hormone deficiency type III ⚠
p.Phe320Cys Single submitter isolated growth hormone deficiency type III ⚠
p.Phe404del Single submitter
p.Phe413Leu Single submitter isolated growth hormone deficiency type III ⚠
p.Phe574Leu Single submitter ⚠
p.Phe98Leu Single submitter ⚠
p.Pro101Leu Single submitter isolated growth hormone deficiency type III ⚠
p.Pro227Thr Single submitter isolated growth hormone deficiency type III ⚠
p.Pro250Leu Single submitter isolated growth hormone deficiency type III ⚠
p.Pro340Ser Single submitter isolated growth hormone deficiency type III ⚠
p.Pro469Leu Single submitter isolated growth hormone deficiency type III ⚠
p.Pro80Leu Single submitter isolated growth hormone deficiency type III ⚠
p.Ser115Tyr Single submitter ⚠
p.Ser14Phe Single submitter isolated growth hormone deficiency type III ⚠
p.Ser179Asn Single submitter isolated growth hormone deficiency type III ⚠
p.Ser179Ile Single submitter Inborn genetic diseases ⚠
p.Ser310Arg Single submitter ⚠
p.Ser342Asn Single submitter isolated growth hormone deficiency type III ⚠
p.Ser353Asn Single submitter ⚠
p.Ser378Pro Single submitter isolated growth hormone deficiency type III
p.Ser453Phe Single submitter isolated growth hormone deficiency type III ⚠
p.Ser514Thr Single submitter isolated growth hormone deficiency type III ⚠
p.Ser55Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Ser564Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Ser592Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Ser592Tyr Single submitter isolated growth hormone deficiency type III ⚠
p.Ser659_Ter660delinsXaa Single submitter isolated growth hormone deficiency type III
p.Thr117Ala Single submitter isolated growth hormone deficiency type III ⚠
p.Thr403Asn Single submitter ⚠
p.Thr403Ile Single submitter isolated growth hormone deficiency type III ⚠
p.Thr403Pro Single submitter isolated growth hormone deficiency type III ⚠
p.Thr410Ile Single submitter isolated growth hormone deficiency type III ⚠
p.Thr495Ser Single submitter ⚠
p.Thr628Ser Single submitter isolated growth hormone deficiency type III ⚠
p.Trp281Arg Single submitter Bruton-type agammaglobulinemia ⚠
p.Trp581Cys Single submitter isolated growth hormone deficiency type III ⚠
p.Tyr375Cys Single submitter Inborn genetic diseases ⚠
p.Tyr545His Single submitter isolated growth hormone deficiency type III ⚠
p.Val131Ile Single submitter isolated growth hormone deficiency type III ⚠
p.Val306Ala Single submitter isolated growth hormone deficiency type III ⚠
p.Val34Leu Single submitter isolated growth hormone deficiency type III ⚠
p.Val427Lys Single submitter isolated growth hormone deficiency type III
p.Val463Ile Single submitter isolated growth hormone deficiency type III ⚠
p.Val505Ile Single submitter ⚠
p.Val537Ala Single submitter isolated growth hormone deficiency type III ⚠
p.Val555Ala Single submitter isolated growth hormone deficiency type III ⚠
p.Val585Ile Single submitter ⚠
p.Glu608_Ala611del No assertion criteria