Sugi Variant

Sugi Variant/GATA2

GATA2 — 1699 ClinVar variants

All ClinVar germline GATA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 779 flagged for review →

125 Pathogenic · 19 Pathogenic/Likely pathogenic · 54 Likely pathogenic · 92 Conflicting · 29 Benign · 11 Benign/Likely benign · 481 Likely benign · 888 Uncertain significance

Full GATA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 779

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

Predictors agree, ClinVar conflicts 38

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

Predictors lean, ClinVar uncertain 427

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 427

Predictors split 314

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 314

All GATA2 variants

Pathogenic 125

  • c.1018-2A>T Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Arg204Ter Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Arg330Ter Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Arg337Ter Multiple submitters GATA2 deficiency with susceptibility to MDS/AML
  • p.Arg396Gln Multiple submitters monocytopenia with susceptibility to infections
  • p.Arg398Trp Multiple submitters GATA2-related disorder
  • p.Glu180Ter Multiple submitters GATA2-related disorder
  • p.Glu44Ter Multiple submitters GATA2 deficiency with susceptibility to MDS/AML
  • p.Gly101fs Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Gly146fs Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Gly200_Ser201insTer Multiple submitters GATA2 deficiency with susceptibility to MDS/AML
  • p.Gly200fs Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Leu229fs Multiple submitters Inborn genetic diseases
  • p.Lys324fs Multiple submitters monocytopenia with susceptibility to infections
  • p.Pro368fs Multiple submitters GATA2-related disorder
  • p.Ser54Ter Multiple submitters GATA2 deficiency with susceptibility to MDS/AML
  • p.Thr117= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Thr188fs Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Thr354Met Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Trp306fs Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Trp306Ter Multiple submitters GATA2-related disorder
  • p.Tyr33Ter Multiple submitters GATA2-related disorder
  • p.Tyr59Ter Multiple submitters GATA2 deficiency with susceptibility to MDS/AML
  • c.1017+1del Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+2T>A Single submitter
  • c.1017+2T>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+2T>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.1018_1028del Single submitter deafness-lymphedema-leukemia syndrome
  • c.1018-10_1037del Single submitter deafness-lymphedema-leukemia syndrome
  • c.1018-11_1027del Single submitter deafness-lymphedema-leukemia syndrome
  • c.1018-3_1031del Single submitter deafness-lymphedema-leukemia syndrome
  • c.1126_1143+54del Single submitter monocytopenia with susceptibility to infections
  • c.1143+200_1198del Single submitter deafness-lymphedema-leukemia syndrome
  • c.-200_871+527del2032 Single submitter GATA2 deficiency with susceptibility to MDS/AML
  • p.Ala103fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ala107fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ala194fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ala198fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ala302fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ala318fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ala318Thr Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ala341fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ala342del Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ala342fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ala68fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Arg343fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Arg344fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Arg361Leu Single submitter GATA2 deficiency with susceptibility to MDS/AML
  • p.Arg362fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Arg69fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Arg78fs Single submitter GATA2 deficiency with susceptibility to MDS/AML
  • p.Arg86fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Asn351Asp Single submitter myelodysplastic syndrome
  • p.Asn365fs Single submitter monocytopenia with susceptibility to infections
  • p.Asn371fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Asn381fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Asn383fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Asp367fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Cys298fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Cys319fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Cys348fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Cys352fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Cys373Gly Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Gln239Ter Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gln328Ter Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gln38Ter Single submitter monocytopenia with susceptibility to infections
  • p.Gln394Ter Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gln7fs Single submitter monocytopenia with susceptibility to infections
  • p.Glu219fs Single submitter monocytopenia with susceptibility to infections
  • p.Glu224Ter Single submitter deafness-lymphedema-leukemia syndrome
  • p.Glu294fs Single submitter
  • p.Glu391fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Glu6fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gly136fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gly147fs Single submitter monocytopenia with susceptibility to infections
  • p.Gly199fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gly237fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gly263fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gly268fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gly273fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gly28fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gly346fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gly82fs Single submitter GATA2 deficiency with susceptibility to MDS/AML
  • p.His323fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ile246fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Leu105fs Single submitter GATA2 deficiency with susceptibility to MDS/AML
  • p.Leu332fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Leu375fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Lys102fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Lys179Ter Single submitter multilineage dysplasia
  • p.Lys378fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Lys378Ter Single submitter deafness-lymphedema-leukemia syndrome
  • p.Lys406fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Met400fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Phe265fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Phe278fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Phe428fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Pro161fs Single submitter monocytopenia with susceptibility to infections
  • p.Pro254fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Pro274fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Pro280_Lys281insTer Single submitter monocytopenia with susceptibility to infections
  • p.Pro280fs Single submitter monocytopenia with susceptibility to infections
  • p.Ser106fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ser129fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ser139fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ser277fs Single submitter Inborn genetic diseases
  • p.Ser290Ter Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ser340fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Thr176fs Single submitter monocytopenia with susceptibility to infections
  • p.Thr218_Glu219insTer Single submitter Inborn genetic diseases
  • p.Thr311fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Thr347fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Thr358Asn Single submitter deafness-lymphedema-leukemia syndrome
  • p.Trp97fs Single submitter monocytopenia with susceptibility to infections
  • p.Tyr141Ter Single submitter deafness-lymphedema-leukemia syndrome
  • p.Tyr252fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Tyr260fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Tyr314fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Tyr376fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Tyr376Ter Single submitter deafness-lymphedema-leukemia syndrome
  • p.Tyr72Ter Single submitter deafness-lymphedema-leukemia syndrome
  • p.Val118fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Val140fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Val211fs Single submitter deafness-lymphedema-leukemia syndrome
  • p.Val70fs Single submitter deafness-lymphedema-leukemia syndrome

Pathogenic/Likely pathogenic 19

  • c.1017+572C>T Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.1018-1G>T Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.1018-2A>G Multiple submitters GATA2 deficiency with susceptibility to MDS/AML
  • c.1143+2T>A Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Arg343Ter Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Arg361Cys Multiple submitters monocytopenia with susceptibility to infections
  • p.Arg362Ter Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Arg396Trp Multiple submitters GATA2-related disorder
  • p.Arg398Gln Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Asn371Lys Multiple submitters GATA2 deficiency with susceptibility to MDS/AML
  • p.Cys349Arg Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Cys373Arg Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Gln20Ter Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Gln282Ter Multiple submitters Inborn genetic diseases
  • p.Gly268Ter Multiple submitters GATA2 deficiency with susceptibility to MDS/AML
  • p.Ser340Ter Multiple submitters monocytopenia with susceptibility to infections
  • p.Thr354Pro Multiple submitters GATA2-related disorder
  • p.Thr358del Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Val16fs Multiple submitters Inborn genetic diseases

Likely pathogenic 54

  • p.Ala372Thr Multiple submitters monocytopenia with susceptibility to infections
  • p.Arg361Gly Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Arg362Pro Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Arg396Leu Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Cys349Tyr Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Cys352Arg Multiple submitters GATA2 deficiency with susceptibility to MDS/AML
  • p.Cys352Gly Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Leu375Phe Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Tyr377Asp Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.1017+513_1017+540del Single submitter deafness-lymphedema-leukemia syndrome
  • c.1018-1G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1018-2A>C Single submitter
  • c.1143+5G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1144-1_1146del Single submitter GATA2-related disorder
  • c.1144-1G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1144-1G>C Single submitter
  • c.871+1G>A Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ala191fs Single submitter
  • p.Ala255fs Single submitter acute myeloid leukemia
  • p.Ala257fs Single submitter GATA2-related disorder
  • p.Ala345_Gly346insLeuLeuValAlaAlaLeuLeuAlaAla Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ala64fs Single submitter
  • p.Arg362_Asn365del Single submitter GATA2 deficiency with susceptibility to MDS/AML
  • p.Arg396Gly Single submitter
  • p.Arg398Gly Single submitter monocytopenia with susceptibility to infections
  • p.Asn297fs Single submitter
  • p.Cys349Gly Single submitter deafness-lymphedema-leukemia syndrome
  • p.Cys349Phe Single submitter deafness-lymphedema-leukemia syndrome
  • p.Cys349Ter Single submitter GATA2-related disorder
  • p.Cys352Phe Single submitter deafness-lymphedema-leukemia syndrome
  • p.Cys370Trp Single submitter deafness-lymphedema-leukemia syndrome
  • p.Cys373_Tyr377del Single submitter deafness-lymphedema-leukemia syndrome
  • p.Cys373Tyr Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gly327fs Single submitter GATA2-related disorder
  • p.His13fs Single submitter GATA2-related disorder
  • p.Ile333fs Single submitter
  • p.Leu315Pro Single submitter deafness-lymphedema-leukemia syndrome
  • p.Leu375Val Single submitter deafness-lymphedema-leukemia syndrome
  • p.Met388fs Single submitter
  • p.Met388Thr Single submitter deafness-lymphedema-leukemia syndrome
  • p.Pro14fs Single submitter monocytopenia with susceptibility to infections
  • p.Pro185fs Single submitter
  • p.Pro368Arg Single submitter monocytopenia with susceptibility to infections
  • p.Pro385Gln Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ser251fs Single submitter monocytopenia with susceptibility to infections
  • p.Ser447Arg Single submitter deafness-lymphedema-leukemia syndrome
  • p.Thr176Pro Single submitter monocytopenia with susceptibility to infections
  • p.Thr354Arg Single submitter deafness-lymphedema-leukemia syndrome
  • p.Thr356_Asn365del Single submitter deafness-lymphedema-leukemia syndrome
  • p.Trp116fs Single submitter myelodysplastic syndrome
  • p.Trp360Leu Single submitter deafness-lymphedema-leukemia syndrome
  • p.Trp360Ter Single submitter myelodysplastic syndrome
  • c.1018-26_1033delinsAGC No assertion criteria GATA2-related disorder
  • p.Gln353Ter No assertion criteria monocytopenia with susceptibility to infections

Conflicting classifications of pathogenicity 92

  • c.1017+485A>T Single submitter monocytopenia with susceptibility to infections
  • c.1017+512C>T Single submitter monocytopenia with susceptibility to infections
  • c.1017+525C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+559G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+565_1017+566del Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+573G>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+582G>T Single submitter GATA2 deficiency with susceptibility to MDS/AML
  • c.1017+590dup Single submitter monocytopenia with susceptibility to infections
  • c.1017+693dup Single submitter deafness-lymphedema-leukemia syndrome
  • c.1018-5C>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1018-5C>T Single submitter Inborn genetic diseases
  • c.1143+11C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1143+5G>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.1143+8C>T Single submitter GATA2 deficiency with susceptibility to MDS/AML
  • c.230-12_230-9del Single submitter hereditary neoplastic syndrome
  • c.872-1G>C Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ala104Val Single submitter monocytopenia with susceptibility to infections ⚠
  • p.Ala198Val Single submitter monocytopenia with susceptibility to infections ⚠
  • p.Ala286Val Single submitter GATA2 deficiency with susceptibility to MDS/AML ⚠
  • p.Ala341= Single submitter Inborn genetic diseases
  • p.Ala364Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala411Val Single submitter monocytopenia with susceptibility to infections ⚠
  • p.Arg283Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg344= Single submitter monocytopenia with susceptibility to infections
  • p.Arg361His Single submitter GATA2-related disorder ⚠
  • p.Arg362dup Single submitter monocytopenia with susceptibility to infections
  • p.Arg362Gln Single submitter Inborn genetic diseases ⚠
  • p.Asn351Ser Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Asn402= Single submitter deafness-lymphedema-leukemia syndrome
  • p.Asp23Asn Single submitter Inborn genetic diseases ⚠
  • p.Glu6Gln Single submitter Inborn genetic diseases ⚠
  • p.Gly100Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly101= Single submitter Inborn genetic diseases
  • p.Gly136= Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gly149Arg Single submitter GATA2 deficiency with susceptibility to MDS/AML
  • p.Gly153Arg Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Gly200Asp Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Gly210Ser Single submitter monocytopenia with susceptibility to infections ⚠
  • p.Gly263Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly327= Single submitter deafness-lymphedema-leukemia syndrome
  • p.Gly374Asp Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Gly450Arg Single submitter Hereditary cancer ⚠
  • p.Gly468Ser Single submitter Inborn genetic diseases ⚠
  • p.His113del Single submitter Inborn genetic diseases
  • p.His165= Single submitter Inborn genetic diseases
  • p.His313Tyr Single submitter monocytopenia with susceptibility to infections ⚠
  • p.His442= Single submitter deafness-lymphedema-leukemia syndrome
  • p.His442fs Single submitter acute myeloid leukemia
  • p.Ile452= Single submitter Inborn genetic diseases
  • p.Leu105= Single submitter Inborn genetic diseases
  • p.Leu138Pro Single submitter Predisposition to myelodysplastic syndrome ⚠
  • p.Leu217= Single submitter myelodysplastic syndrome
  • p.Leu264= Single submitter deafness-lymphedema-leukemia syndrome
  • p.Leu359Ser Single submitter GATA2 deficiency with susceptibility to MDS/AML ⚠
  • p.Leu359Val Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Lys390= Single submitter Inborn genetic diseases
  • p.Lys390Glu Single submitter monocytopenia with susceptibility to infections ⚠
  • p.Met11Val Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Met223Ile Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Met236Val Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Met388Val Single submitter GATA2 deficiency with susceptibility to MDS/AML ⚠
  • p.Phe48Ile Single submitter Inborn genetic diseases ⚠
  • p.Pro120Ser Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Pro128Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro14Ser Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Pro161Ala Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Pro41Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro456Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro472Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro93= Single submitter Inborn genetic diseases
  • p.Ser225Asn Single submitter monocytopenia with susceptibility to infections ⚠
  • p.Ser227Asn Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Ser277Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser284= Single submitter deafness-lymphedema-leukemia syndrome
  • p.Ser425Ala Single submitter Inborn genetic diseases ⚠
  • p.Ser425Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser429Thr Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Thr188= Single submitter Inborn genetic diseases
  • p.Thr218= Single submitter Inborn genetic diseases
  • p.Thr357Ala Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Thr357Ile Single submitter GATA2 deficiency with susceptibility to MDS/AML ⚠
  • p.Thr387Asn Single submitter GATA2 deficiency with susceptibility to MDS/AML ⚠
  • p.Trp10Cys Single submitter monocytopenia with susceptibility to infections ⚠
  • p.Trp360Arg Single submitter GATA2 deficiency with susceptibility to MDS/AML ⚠
  • p.Tyr314= Single submitter deafness-lymphedema-leukemia syndrome
  • p.Tyr376= Single submitter Inborn genetic diseases
  • p.Val211= Single submitter Inborn genetic diseases
  • p.Val211Ile Single submitter Inborn genetic diseases ⚠
  • p.Val296= Single submitter monocytopenia with susceptibility to infections
  • p.Val3Ala Single submitter Inborn genetic diseases ⚠
  • p.Val440Met Single submitter deafness-lymphedema-leukemia syndrome ⚠
  • p.Val70Phe Single submitter GATA2 deficiency with susceptibility to MDS/AML ⚠

Benign 29

  • c.1018-226T>G Multiple submitters
  • c.1143+128C>T Multiple submitters
  • c.1143+203A>G Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.229+127C>T Multiple submitters
  • c.871+342C>T Multiple submitters
  • c.872-158C>A Multiple submitters
  • c.872-187T>C Multiple submitters
  • c.-276T>G Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.*200C>T Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.*482C>T Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.*546C>T Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Ala164Thr Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Pro250Ala Multiple submitters Inborn genetic diseases
  • c.1017+491del Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+491dup Single submitter monocytopenia with susceptibility to infections
  • c.1017+704C>A Single submitter monocytopenia with susceptibility to infections
  • c.1143+242G>C Single submitter
  • c.-106T>G Single submitter
  • c.-54C>T Single submitter
  • c.*100C>A Single submitter
  • c.*1080G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.*1229A>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.*24G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.*410C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.*427C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.*508G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.*715G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.*882T>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.*94C>T Single submitter deafness-lymphedema-leukemia syndrome

Benign/Likely benign 11

  • c.1018-19C>T Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.230-17T>C Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.-5C>G Multiple submitters Inborn genetic diseases
  • c.*183C>T Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Ala411= Multiple submitters Inborn genetic diseases
  • p.Gln38= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Glu391= Multiple submitters Inborn genetic diseases
  • p.Gly237Asp Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.His111= Multiple submitters Inborn genetic diseases
  • p.Pro22= Multiple submitters Inborn genetic diseases
  • p.Thr477= Multiple submitters monocytopenia with susceptibility to infections

Likely benign 481

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

  • c.1017+11G>A Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.1017+20G>T Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.1017+215C>T Multiple submitters
  • c.1017+8C>T Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.1017+9G>A Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.1018-10G>A Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.1018-18G>T Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.1018-194C>T Multiple submitters
  • c.1018-6_1018-3dup Multiple submitters Inborn genetic diseases
  • c.1143+13C>T Multiple submitters monocytopenia with susceptibility to infections
  • c.1143+18C>T Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.1143+19G>A Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.1143+19G>C Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.1143+9G>A Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.229+15C>G Multiple submitters deafness-lymphedema-leukemia syndrome
  • c.872-95C>G Multiple submitters
  • c.-4G>C Multiple submitters Inborn genetic diseases
  • p.Ala103= Multiple submitters Inborn genetic diseases
  • p.Ala109= Multiple submitters Inborn genetic diseases
  • p.Ala110= Multiple submitters Inborn genetic diseases
  • p.Ala144= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Ala157= Multiple submitters Inborn genetic diseases
  • p.Ala164= Multiple submitters Inborn genetic diseases
  • p.Ala191= Multiple submitters Inborn genetic diseases
  • p.Ala194= Multiple submitters Inborn genetic diseases
  • p.Ala241= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Ala345= Multiple submitters Inborn genetic diseases
  • p.Ala37= Multiple submitters Inborn genetic diseases
  • p.Ala432= Multiple submitters Inborn genetic diseases
  • p.Ala434= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Ala478= Multiple submitters Inborn genetic diseases
  • p.Ala61= Multiple submitters monocytopenia with susceptibility to infections
  • p.Ala64= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Ala66= Multiple submitters Inborn genetic diseases
  • p.Ala68= Multiple submitters monocytopenia with susceptibility to infections
  • p.Arg204= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Arg293= Multiple submitters monocytopenia with susceptibility to infections
  • p.Arg337= Multiple submitters Inborn genetic diseases
  • p.Arg343= Multiple submitters Inborn genetic diseases
  • p.Arg67= Multiple submitters Inborn genetic diseases
  • p.Arg86= Multiple submitters Inborn genetic diseases
  • p.Asn114= Multiple submitters Inborn genetic diseases
  • p.Asn326= Multiple submitters Inborn genetic diseases
  • p.Asn351= Multiple submitters Inborn genetic diseases
  • p.Asn363= Multiple submitters Inborn genetic diseases
  • p.Asn365= Multiple submitters Inborn genetic diseases
  • p.Asn371= Multiple submitters Inborn genetic diseases
  • p.Asn57= Multiple submitters Inborn genetic diseases
  • p.Asn62= Multiple submitters Inborn genetic diseases
  • p.Asp209= Multiple submitters monocytopenia with susceptibility to infections
  • p.Asp23= Multiple submitters Inborn genetic diseases
  • p.Asp309= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Asp367= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Asp43= Multiple submitters Inborn genetic diseases
  • p.Asp46= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Asp53= Multiple submitters Inborn genetic diseases
  • p.Asp99= Multiple submitters Inborn genetic diseases
  • p.Cys289= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Cys373= Multiple submitters Inborn genetic diseases
  • p.Gln55= Multiple submitters Inborn genetic diseases
  • p.Glu219= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Glu35= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Glu416= Multiple submitters Inborn genetic diseases
  • p.Gly100= Multiple submitters Inborn genetic diseases
  • p.Gly135= Multiple submitters Inborn genetic diseases
  • p.Gly143= Multiple submitters Inborn genetic diseases
  • p.Gly167= Multiple submitters Inborn genetic diseases
  • p.Gly172= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Gly226= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Gly272= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Gly320= Multiple submitters Inborn genetic diseases
  • p.Gly346= Multiple submitters Inborn genetic diseases
  • p.Gly374= Multiple submitters monocytopenia with susceptibility to infections
  • p.Gly410= Multiple submitters Inborn genetic diseases
  • p.Gly441= Multiple submitters monocytopenia with susceptibility to infections
  • p.Gly450= Multiple submitters Inborn genetic diseases
  • p.His127= Multiple submitters Inborn genetic diseases
  • p.His169= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.His21= Multiple submitters Inborn genetic diseases
  • p.His243= Multiple submitters Inborn genetic diseases
  • p.His244= Multiple submitters monocytopenia with susceptibility to infections
  • p.His25= Multiple submitters monocytopenia with susceptibility to infections
  • p.His266= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.His380= Multiple submitters Inborn genetic diseases
  • p.His460= Multiple submitters Inborn genetic diseases
  • p.His469= Multiple submitters Inborn genetic diseases
  • p.His471= Multiple submitters Inborn genetic diseases
  • p.His51= Multiple submitters hereditary neoplastic syndrome
  • p.His76= Multiple submitters Inborn genetic diseases
  • p.Leu233= Multiple submitters Inborn genetic diseases
  • p.Leu271= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Leu321= Multiple submitters Inborn genetic diseases
  • p.Leu332= Multiple submitters Inborn genetic diseases
  • p.Leu359= Multiple submitters Inborn genetic diseases
  • p.Leu379= Multiple submitters Inborn genetic diseases
  • p.Leu40= Multiple submitters Inborn genetic diseases
  • p.Leu443= Multiple submitters Inborn genetic diseases
  • p.Leu52= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Leu89= Multiple submitters Inborn genetic diseases
  • p.Lys179= Multiple submitters Inborn genetic diseases
  • p.Lys324= Multiple submitters monocytopenia with susceptibility to infections
  • p.Lys336= Multiple submitters Inborn genetic diseases
  • p.Lys378= Multiple submitters Inborn genetic diseases
  • p.Phe121= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Phe171= Multiple submitters monocytopenia with susceptibility to infections
  • p.Phe173= Multiple submitters Inborn genetic diseases
  • p.Phe265= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Phe414= Multiple submitters Inborn genetic diseases
  • p.Phe467= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Phe48= Multiple submitters Inborn genetic diseases
  • p.Phe49= Multiple submitters Inborn genetic diseases
  • p.Pro125= Multiple submitters Inborn genetic diseases
  • p.Pro137= Multiple submitters Inborn genetic diseases
  • p.Pro178= Multiple submitters Inborn genetic diseases
  • p.Pro228= Multiple submitters Inborn genetic diseases
  • p.Pro254= Multiple submitters Inborn genetic diseases
  • p.Pro267= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Pro27= Multiple submitters Inborn genetic diseases
  • p.Pro274= Multiple submitters Inborn genetic diseases
  • p.Pro331= Multiple submitters Inborn genetic diseases
  • p.Pro41= Multiple submitters monocytopenia with susceptibility to infections
  • p.Pro42= Multiple submitters Inborn genetic diseases
  • p.Pro427= Multiple submitters Inborn genetic diseases
  • p.Pro444= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Pro456= Multiple submitters Inborn genetic diseases
  • p.Pro458= Multiple submitters Inborn genetic diseases
  • p.Pro461= Multiple submitters Inborn genetic diseases
  • p.Pro470= Multiple submitters Inborn genetic diseases
  • p.Pro58= Multiple submitters Inborn genetic diseases
  • p.Pro96= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Ser148= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Ser155= Multiple submitters Inborn genetic diseases
  • p.Ser158= Multiple submitters Inborn genetic diseases
  • p.Ser197= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Ser201= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Ser216= Multiple submitters monocytopenia with susceptibility to infections
  • p.Ser225= Multiple submitters monocytopenia with susceptibility to infections
  • p.Ser24= Multiple submitters Inborn genetic diseases
  • p.Ser262= Multiple submitters Inborn genetic diseases
  • p.Ser447= Multiple submitters Inborn genetic diseases
  • p.Ser466= Multiple submitters Inborn genetic diseases
  • p.Ser71= Multiple submitters Inborn genetic diseases
  • p.Ser92Asn Multiple submitters deafness-lymphedema-leukemia syndrome ⚠
  • p.Thr160= Multiple submitters Inborn genetic diseases
  • p.Thr176= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Thr235Ala Multiple submitters Inborn genetic diseases
  • p.Thr238= Multiple submitters Inborn genetic diseases
  • p.Thr248= Multiple submitters Inborn genetic diseases
  • p.Thr279= Multiple submitters Inborn genetic diseases
  • p.Thr279Ser Multiple submitters monocytopenia with susceptibility to infections
  • p.Thr301= Multiple submitters Inborn genetic diseases
  • p.Thr311= Multiple submitters Inborn genetic diseases
  • p.Thr347= Multiple submitters Inborn genetic diseases
  • p.Thr354= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Thr357= Multiple submitters Inborn genetic diseases
  • p.Thr387= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Thr395= Multiple submitters Inborn genetic diseases
  • p.Thr80= Multiple submitters monocytopenia with susceptibility to infections
  • p.Tyr141= Multiple submitters Inborn genetic diseases
  • p.Tyr213= Multiple submitters Inborn genetic diseases
  • p.Tyr252= Multiple submitters Inborn genetic diseases
  • p.Tyr322= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Tyr59= Multiple submitters monocytopenia with susceptibility to infections
  • p.Tyr72= Multiple submitters deafness-lymphedema-leukemia syndrome
  • p.Val16= Multiple submitters Inborn genetic diseases
  • p.Val181= Multiple submitters Inborn genetic diseases
  • p.Val253= Multiple submitters Inborn genetic diseases
  • p.Val369= Multiple submitters Inborn genetic diseases
  • p.Val382= Multiple submitters monocytopenia with susceptibility to infections
  • p.Val440= Multiple submitters Inborn genetic diseases
  • c.1017+11G>T Single submitter monocytopenia with susceptibility to infections
  • c.1017+14C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+477G>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+480A>G Single submitter monocytopenia with susceptibility to infections
  • c.1017+484T>A Single submitter monocytopenia with susceptibility to infections
  • c.1017+484T>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+486A>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+491A>G Single submitter monocytopenia with susceptibility to infections
  • c.1017+500C>T Single submitter monocytopenia with susceptibility to infections
  • c.1017+506T>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+508C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+512C>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+513G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+513G>T Single submitter monocytopenia with susceptibility to infections
  • c.1017+516G>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+517T>G Single submitter monocytopenia with susceptibility to infections
  • c.1017+518T>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+520C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+523A>C Single submitter monocytopenia with susceptibility to infections
  • c.1017+523A>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+525C>A Single submitter monocytopenia with susceptibility to infections
  • c.1017+526C>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+526C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+527G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+533C>T Single submitter monocytopenia with susceptibility to infections
  • c.1017+534T>G Single submitter monocytopenia with susceptibility to infections
  • c.1017+535G>T Single submitter monocytopenia with susceptibility to infections
  • c.1017+536C>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+536C>T Single submitter monocytopenia with susceptibility to infections
  • c.1017+537A>G Single submitter monocytopenia with susceptibility to infections
  • c.1017+538G>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+540C>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+544A>G Single submitter monocytopenia with susceptibility to infections
  • c.1017+555C>T Single submitter monocytopenia with susceptibility to infections
  • c.1017+555dup Single submitter monocytopenia with susceptibility to infections
  • c.1017+556T>G Single submitter monocytopenia with susceptibility to infections
  • c.1017+557T>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+558C>G Single submitter
  • c.1017+558C>T Single submitter monocytopenia with susceptibility to infections
  • c.1017+560T>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+564T>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+571C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+579T>G Single submitter monocytopenia with susceptibility to infections
  • c.1017+582G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+582G>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+584G>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+592_1017+593del Single submitter
  • c.1017+592A>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+593G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+594T>C Single submitter monocytopenia with susceptibility to infections
  • c.1017+596T>C Single submitter monocytopenia with susceptibility to infections
  • c.1017+598_1017+600del Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+605C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+607G>C Single submitter monocytopenia with susceptibility to infections
  • c.1017+612G>A Single submitter monocytopenia with susceptibility to infections
  • c.1017+615T>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+616C>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+616C>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+616C>T Single submitter monocytopenia with susceptibility to infections
  • c.1017+618C>T Single submitter monocytopenia with susceptibility to infections
  • c.1017+619G>A Single submitter monocytopenia with susceptibility to infections
  • c.1017+620C>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+621T>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+622G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+622G>T Single submitter monocytopenia with susceptibility to infections
  • c.1017+626T>C Single submitter monocytopenia with susceptibility to infections
  • c.1017+641A>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+644A>G Single submitter monocytopenia with susceptibility to infections
  • c.1017+645C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+646C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+654C>G Single submitter monocytopenia with susceptibility to infections
  • c.1017+657C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+662A>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+663A>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+666C>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+666C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+667_1017+675del Single submitter monocytopenia with susceptibility to infections
  • c.1017+667G>A Single submitter monocytopenia with susceptibility to infections
  • c.1017+669A>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+679G>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+688A>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+691T>C Single submitter monocytopenia with susceptibility to infections
  • c.1017+704C>T Single submitter monocytopenia with susceptibility to infections
  • c.1017+705G>A Single submitter monocytopenia with susceptibility to infections
  • c.1017+8C>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.1017+9G>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.1018-11T>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.1018-12T>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.1018-18G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1018-19C>A Single submitter monocytopenia with susceptibility to infections
  • c.1018-7C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1143+12C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1143+13C>G Single submitter monocytopenia with susceptibility to infections
  • c.1143+14G>A Single submitter monocytopenia with susceptibility to infections
  • c.1143+14G>C Single submitter monocytopenia with susceptibility to infections
  • c.1143+15C>G Single submitter monocytopenia with susceptibility to infections
  • c.1143+16C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1143+17C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1143+18C>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1143+193A>G Single submitter
  • c.1143+20del Single submitter deafness-lymphedema-leukemia syndrome
  • c.1143+20G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.1143+20G>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.1143+7del Single submitter deafness-lymphedema-leukemia syndrome
  • c.1144-10T>C Single submitter monocytopenia with susceptibility to infections
  • c.1144-12G>T Single submitter monocytopenia with susceptibility to infections
  • c.1144-14G>A Single submitter monocytopenia with susceptibility to infections
  • c.1144-16T>C Single submitter monocytopenia with susceptibility to infections
  • c.1144-16T>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.1144-17C>G Single submitter monocytopenia with susceptibility to infections
  • c.1144-17C>T Single submitter monocytopenia with susceptibility to infections
  • c.1144-5T>G Single submitter monocytopenia with susceptibility to infections
  • c.1144-6C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.229+10G>A Single submitter monocytopenia with susceptibility to infections
  • c.229+11G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.229+12dup Single submitter monocytopenia with susceptibility to infections
  • c.229+12G>A Single submitter monocytopenia with susceptibility to infections
  • c.229+13C>T Single submitter monocytopenia with susceptibility to infections
  • c.229+14C>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.229+14C>T Single submitter monocytopenia with susceptibility to infections
  • c.229+15C>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.229+16G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.229+19G>A Single submitter deafness-lymphedema-leukemia syndrome
  • c.229+19G>C Single submitter monocytopenia with susceptibility to infections
  • c.229+38C>T Single submitter
  • c.229+7A>C Single submitter deafness-lymphedema-leukemia syndrome
  • c.229+7A>G Single submitter deafness-lymphedema-leukemia syndrome
  • c.229+8C>G Single submitter monocytopenia with susceptibility to infections
  • c.229+8C>T Single submitter deafness-lymphedema-leukemia syndrome
  • c.230-10_230-9del Single submitter monocytopenia with susceptibility to infections

Uncertain significance 888

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