Sugi Variant

Sugi Variant/MPL

MPL — 910 ClinVar variants

All ClinVar germline MPL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 274 flagged for review →

66 Pathogenic · 37 Pathogenic/Likely pathogenic · 91 Likely pathogenic · 34 Conflicting · 11 Benign · 11 Benign/Likely benign · 354 Likely benign · 306 Uncertain significance

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

⚑ Evidence disagreements 274

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 4

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

Predictors agree, ClinVar conflicts 19

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

Predictors lean, ClinVar uncertain 214

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 214

Predictors split 37

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

All MPL variants

Pathogenic 66

  • p.Arg102Pro Multiple submitters thrombocythemia 2 ⚠
  • p.Arg123Ter Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Arg357Ter Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Arg43Ter Multiple submitters congenital amegakaryocytic thrombocytopenia 1
  • p.Arg90Ter Multiple submitters primary myelofibrosis
  • p.Gln186Ter Multiple submitters thrombocythemia 2
  • p.Leu79fs Multiple submitters thrombocythemia 2
  • p.Lys140fs Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Phe126fs Multiple submitters congenital amegakaryocytic thrombocytopenia 1
  • p.Ser505Asn Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • c.1468+1G>C Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala203fs Single submitter essential thrombocythemia
  • p.Ala32fs Single submitter essential thrombocythemia
  • p.Ala490fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala497fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Arg170_Pro176delinsHisTrpSer Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Arg174fs Single submitter essential thrombocythemia
  • p.Arg426Pro Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asp326fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asp434_Trp435insTer Single submitter essential thrombocythemia
  • p.Cys194Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Cys291Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Cys560fs Single submitter essential thrombocythemia
  • p.Cys560Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Cys583fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln306Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln387Ter Single submitter essential thrombocythemia
  • p.Gln411Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln424Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln460Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln516Ter Single submitter essential thrombocythemia
  • p.Gln64Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu237Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu338fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu407Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu450fs Single submitter essential thrombocythemia
  • p.Glu450Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu488Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu562Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu576fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu234fs Single submitter essential thrombocythemia
  • p.Leu30Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu510fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu511fs Single submitter essential thrombocythemia
  • p.Leu582fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Lys339Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Met84fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro281fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro342fs Single submitter essential thrombocythemia
  • p.Pro441fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro96fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ser145fs Single submitter essential thrombocythemia
  • p.Ser493fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ser557Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Trp398Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Trp416Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Tyr316Ter Single submitter essential thrombocythemia
  • p.Tyr457fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Tyr521Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Tyr63Ter Single submitter essential thrombocythemia
  • p.Tyr69His Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Val130fs Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1566-1G>T No assertion criteria congenital amegakaryocytic thrombocytopenia 1
  • p.Leu500fs No assertion criteria congenital amegakaryocytic thrombocytopenia 1
  • p.Trp491Ter No assertion criteria congenital amegakaryocytic thrombocytopenia 1
  • p.Trp515Lys No assertion criteria myelofibrosis with myeloid metaplasia

Pathogenic/Likely pathogenic 37

  • c.1468+2T>C Multiple submitters congenital amegakaryocytic thrombocytopenia
  • c.1469-2A>T Multiple submitters congenital amegakaryocytic thrombocytopenia
  • c.1653+1del Multiple submitters primary myelofibrosis
  • c.79+2T>A Multiple submitters thrombocythemia 2
  • p.Arg102Cys Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Arg257Cys Multiple submitters thrombocythemia 2
  • p.Arg325fs Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Arg426Ter Multiple submitters essential thrombocythemia
  • p.Asn250fs Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Asp558fs Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Cys422fs Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Cys77fs Multiple submitters congenital amegakaryocytic thrombocytopenia 1
  • p.Gln219fs Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Gln345Ter Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Gln348Ter Multiple submitters MPL-related disorder
  • p.Gln541Ter Multiple submitters essential thrombocythemia
  • p.Gln98Ter Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Glu160Ter Multiple submitters congenital amegakaryocytic thrombocytopenia 1
  • p.Glu439fs Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Glu72Ter Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.His201fs Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Ile138fs Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Ile152fs Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Leu103fs Multiple submitters essential thrombocythemia
  • p.Leu265fs Multiple submitters essential thrombocythemia
  • p.Phe104fs Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Phe105fs Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Pro136Leu Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Pro382fs Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Pro635Leu Multiple submitters essential thrombocythemia ⚠
  • p.Pro70fs Multiple submitters congenital amegakaryocytic thrombocytopenia 1
  • p.Ser232Ter Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Ser605fs Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Trp154Arg Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Trp477Ter Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Trp515Ter Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Tyr91Ter Multiple submitters primary myelofibrosis

Likely pathogenic 91

  • c.1165+1G>C Multiple submitters MPL-related disorder
  • c.1166-1G>C Multiple submitters congenital amegakaryocytic thrombocytopenia 1
  • c.1566-1G>A Multiple submitters essential thrombocythemia
  • c.1653+1G>C Multiple submitters primary myelofibrosis
  • c.853+1G>A Multiple submitters congenital amegakaryocytic thrombocytopenia
  • c.981-1G>C Multiple submitters primary myelofibrosis
  • p.Phe104Ser Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Pro136Arg Multiple submitters congenital amegakaryocytic thrombocytopenia 1
  • p.Pro136His Multiple submitters thrombocythemia 2
  • p.Trp272Ter Multiple submitters congenital amegakaryocytic thrombocytopenia
  • c.1166_1169dup Single submitter congenital amegakaryocytic thrombocytopenia 1
  • c.1166-1G>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1308+2T>G Single submitter essential thrombocythemia
  • c.1309-1G>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1468+1G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1469-1G>T Single submitter essential thrombocythemia
  • c.1566-7_1572delinsGAGAAGCAGA Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1653+2T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1654-1G>A Single submitter congenital amegakaryocytic thrombocytopenia 1
  • c.212+5G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.213-1G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.690+1G>A Single submitter congenital amegakaryocytic thrombocytopenia 1
  • c.690+2T>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.690+2T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.691-2A>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.79+1G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.79+1G>T Single submitter essential thrombocythemia
  • c.80-1G>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.854-1G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.980+1dup Single submitter congenital amegakaryocytic thrombocytopenia
  • c.980+2T>A Single submitter essential thrombocythemia
  • c.980+2T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.981-1G>T Single submitter congenital amegakaryocytic thrombocytopenia 1
  • p.Ala16fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Arg102His Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg257Leu Single submitter congenital amegakaryocytic thrombocytopenia 1
  • p.Arg325Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Arg456fs Single submitter congenital amegakaryocytic thrombocytopenia 1
  • p.Arg462fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Arg525fs Single submitter MPL-related disorder
  • p.Arg544fs Single submitter congenital amegakaryocytic thrombocytopenia 1
  • p.Asn19fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asp479fs Single submitter congenital amegakaryocytic thrombocytopenia 1
  • p.Asp47fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Cys193Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Cys50fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln118fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln122fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln247fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln255Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln305fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln419Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln424fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln516fs Single submitter
  • p.Gln82Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln94Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu259Ter Single submitter congenital amegakaryocytic thrombocytopenia 1
  • p.Glu335Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly131Arg Single submitter congenital amegakaryocytic thrombocytopenia 1 ⚠
  • p.Gly245Ter Single submitter congenital amegakaryocytic thrombocytopenia 1
  • p.Gly288fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly380fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly88Glu Single submitter thrombocytopenia ⚠
  • p.His353fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.His86fs Single submitter congenital amegakaryocytic thrombocytopenia 1
  • p.Leu254Pro Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu274fs Single submitter congenital amegakaryocytic thrombocytopenia 1
  • p.Leu30fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu508fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro133fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro136Ala Single submitter ⚠
  • p.Pro227fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro382_Phe383insArgMetTer Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ser137fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ser244Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ser33Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ser531fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Thr346fs Single submitter congenital amegakaryocytic thrombocytopenia 1
  • p.Thr485Ile Single submitter ⚠
  • p.Trp154Leu Single submitter
  • p.Trp154Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Trp253Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Trp269Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Trp331_Glu332delinsTer Single submitter congenital amegakaryocytic thrombocytopenia 1
  • p.Trp331Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Trp398fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Trp435Arg Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Trp52Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Tyr167Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Tyr252Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Val366fs Single submitter congenital amegakaryocytic thrombocytopenia 1

Conflicting classifications of pathogenicity 34

  • c.1566-7C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1654-10T>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.212+1G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.391+5G>C Single submitter congenital amegakaryocytic thrombocytopenia 1
  • c.690+11C>T Single submitter essential thrombocythemia
  • p.Ala58Val Single submitter primary myelofibrosis ⚠
  • p.Arg43Gln Single submitter essential thrombocythemia ⚠
  • p.Arg537Trp Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg592Ter Single submitter Bleeding and platelet disorders
  • p.Asn19Lys Single submitter Inborn genetic diseases ⚠
  • p.Asp128Tyr Single submitter essential thrombocythemia ⚠
  • p.Gln219Glu Single submitter essential thrombocythemia ⚠
  • p.Gly238Cys Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gly443Arg Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly446Arg Single submitter essential thrombocythemia ⚠
  • p.Gly614Ala Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Leu265Phe Single submitter essential thrombocythemia ⚠
  • p.Leu594Trp Single submitter ⚠
  • p.Lys355Glu Single submitter essential thrombocythemia ⚠
  • p.Pro106Leu Single submitter congenital amegakaryocytic thrombocytopenia 1 ⚠
  • p.Pro135Arg Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Pro453= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro530Leu Single submitter congenital amegakaryocytic thrombocytopenia 1 ⚠
  • p.Ter636Trp Single submitter essential thrombocythemia
  • p.Thr44Ile Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Thr496= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Thr62Ile Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Trp435Cys Single submitter congenital amegakaryocytic thrombocytopenia 1 ⚠
  • p.Trp515Leu Single submitter essential thrombocythemia ⚠
  • p.Tyr252His Single submitter essential thrombocythemia ⚠
  • p.Tyr91= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Val114Met Single submitter essential thrombocythemia ⚠
  • p.Val368Leu Single submitter essential thrombocythemia ⚠
  • p.Val556Phe Single submitter congenital amegakaryocytic thrombocytopenia ⚠

Benign 11

Benign/Likely benign 11

  • c.1309-10C>T Multiple submitters essential thrombocythemia
  • c.1565+5C>T Multiple submitters essential thrombocythemia
  • c.1653+3G>A Multiple submitters congenital amegakaryocytic thrombocytopenia
  • c.391+47C>T Multiple submitters
  • p.Arg321Gln Multiple submitters essential thrombocythemia
  • p.Cys598= Multiple submitters essential thrombocythemia
  • p.Glu230= Multiple submitters essential thrombocythemia
  • p.Gly181= Multiple submitters essential thrombocythemia
  • p.Lys39Asn Multiple submitters essential thrombocythemia ⚠
  • p.Pro70= Multiple submitters essential thrombocythemia
  • p.Thr374Ala Multiple submitters congenital amegakaryocytic thrombocytopenia

Likely benign 354

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

  • c.1165+10T>C Multiple submitters congenital amegakaryocytic thrombocytopenia
  • c.1308+12C>T Multiple submitters congenital amegakaryocytic thrombocytopenia
  • c.391+13C>T Multiple submitters congenital amegakaryocytic thrombocytopenia
  • c.690+19G>A Multiple submitters congenital amegakaryocytic thrombocytopenia
  • c.79+7T>C Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Ala547Val Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Arg351= Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Arg399= Multiple submitters essential thrombocythemia
  • p.Arg482= Multiple submitters essential thrombocythemia
  • p.Cys334= Multiple submitters essential thrombocythemia
  • p.Glu338= Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Pro106= Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Pro133= Multiple submitters essential thrombocythemia
  • p.Pro70Leu Multiple submitters essential thrombocythemia
  • p.Ser226Tyr Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Thr489= Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Tyr378= Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Tyr631= Multiple submitters essential thrombocythemia
  • c.1165+12C>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1165+18_1165+27dup Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1165+18del Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1165+8C>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1166-13G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1166-14T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1166-4G>A Single submitter essential thrombocythemia
  • c.1166-5T>C Single submitter essential thrombocythemia
  • c.1166-6C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1166-9T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1308+11G>T Single submitter
  • c.1308+18dup Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1308+8C>A Single submitter essential thrombocythemia
  • c.1308+8C>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1309-18G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1309-18G>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1309-19C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1309-3dup Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1309-6G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1468+10G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1468+10G>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1468+11C>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1468+13C>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1468+14C>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1468+14C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1468+15G>T Single submitter essential thrombocythemia
  • c.1468+16del Single submitter essential thrombocythemia
  • c.1468+17C>T Single submitter essential thrombocythemia
  • c.1468+19G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1468+37G>A Single submitter
  • c.1468+6dup Single submitter essential thrombocythemia
  • c.1468+7C>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1468+7C>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1468+8A>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1468+9A>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1469-10T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1469-15C>T Single submitter essential thrombocythemia
  • c.1469-16C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1469-17C>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1469-17C>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1469-17C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1469-20_1469-19del Single submitter essential thrombocythemia
  • c.1469-7C>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1469-7C>T Single submitter essential thrombocythemia
  • c.1565+11C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1565+12G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1565+12G>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1565+18C>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1565+19dup Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1565+7C>T Single submitter essential thrombocythemia
  • c.1566-14T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1566-15T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1566-16C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1566-19T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1566-3C>T Single submitter
  • c.1566-6C>T Single submitter essential thrombocythemia
  • c.1566-8T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1653+10C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1653+13C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1653+20_1653+21del Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1653+7G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1654-11A>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1654-14_1654-12del Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1654-16_1654-15del Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1654-20C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1654-5C>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1654-5C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1654-9C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.212+10G>A Single submitter essential thrombocythemia
  • c.212+17G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.212+17G>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.212+8C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.213-12C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.213-20G>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.213-6C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.213-7C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.391+18G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.391+19T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.391+19T>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.391+7G>A Single submitter essential thrombocythemia
  • c.392-13G>C Single submitter essential thrombocythemia
  • c.392-15_392-14del Single submitter congenital amegakaryocytic thrombocytopenia
  • c.392-16C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.392-20G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.392-8G>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.392-8G>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.392-9T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.690+10C>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.690+15T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.690+16T>C Single submitter essential thrombocythemia
  • c.690+20C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.690+4T>C Single submitter
  • c.690+7T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.690+8_690+12dup Single submitter congenital amegakaryocytic thrombocytopenia
  • c.691-12T>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.691-16G>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.691-17G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.691-4C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.691-7T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.79+10A>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.79+15G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.79+15G>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.79+16G>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.79+17G>A Single submitter essential thrombocythemia
  • c.79+17G>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.79+18T>C Single submitter essential thrombocythemia
  • c.79+19G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.79+20G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.79+8G>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.79+9C>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.79+9C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.80-11C>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.80-15C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.80-16dup Single submitter congenital amegakaryocytic thrombocytopenia
  • c.80-17C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.80-19C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.80-7T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.80-9G>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.853+10C>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.853+10C>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.853+10C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.853+10del Single submitter congenital amegakaryocytic thrombocytopenia
  • c.853+15G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.853+18del Single submitter essential thrombocythemia
  • c.853+18T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.853+18T>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.853+20G>C Single submitter essential thrombocythemia
  • c.853+7C>A Single submitter essential thrombocythemia
  • c.854-10T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.854-14T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.854-15C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.980+12A>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.980+14T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.980+16C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.981-11C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*601C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala134= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala141= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala189= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala32= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala417= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala418= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala444= Single submitter essential thrombocythemia
  • p.Ala463= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala497= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala554= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala58= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala587= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Arg102= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Arg123= Single submitter essential thrombocythemia
  • p.Arg257= Single submitter essential thrombocythemia
  • p.Arg319= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Arg321= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Arg452= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Arg514= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Arg525= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Arg537= Single submitter essential thrombocythemia
  • p.Arg544= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Arg577= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asn113= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asn178= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asn250= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asn298= Single submitter essential thrombocythemia
  • p.Asn333= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asn341= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asn395= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asn466= Single submitter essential thrombocythemia
  • p.Asp175= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asp261= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asp279= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asp307= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asp326= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asp53= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Asp545= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Cys193= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Cys241= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Cys40= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Cys50= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Cys560= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Cys77= Single submitter essential thrombocythemia
  • p.Cys93= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln122= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln213= Single submitter essential thrombocythemia
  • p.Gln290= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln306Glu Single submitter Inborn genetic diseases
  • p.Gln312= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln424= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln433= Single submitter essential thrombocythemia
  • p.Gln64= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu149= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu155= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu156= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu237= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu337= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu400= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu409= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu420= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu484= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu488= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu54= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu561= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu562= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Glu576= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly144= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly148= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly221= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly313= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly373= Single submitter essential thrombocythemia
  • p.Gly380= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly443= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly446= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly447= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly467= Single submitter essential thrombocythemia
  • p.Gly503= Single submitter essential thrombocythemia
  • p.Gly509= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly61= Single submitter essential thrombocythemia
  • p.Gly614= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gly88= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.His386= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.His405= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.His412= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.His620= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ile364= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu103= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu14= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu165= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu187= Single submitter essential thrombocythemia
  • p.Leu20= Single submitter essential thrombocythemia
  • p.Leu206= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu256= Single submitter essential thrombocythemia
  • p.Leu265= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu280= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu289= Single submitter
  • p.Leu425= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu438= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu442= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu449= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu451= Single submitter essential thrombocythemia
  • p.Leu461= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu465= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu494= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu502= Single submitter essential thrombocythemia
  • p.Leu508= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu512= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu513= Single submitter
  • p.Leu524= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu528= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu535= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu543= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu549= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu567= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu568= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu594= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu599= Single submitter essential thrombocythemia
  • p.Leu604= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu627= Single submitter essential thrombocythemia
  • p.Leu66= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu79= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Lys140= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Lys177= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Lys223= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Lys339= Single submitter essential thrombocythemia
  • p.Lys573= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Lys73= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Phe105= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Phe164= Single submitter essential thrombocythemia
  • p.Phe292= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro135= Single submitter
  • p.Pro136= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro17= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro173= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro195= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro2= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro324= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro329= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro342= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro372= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro392= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro394= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro413= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro440= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro473= Single submitter congenital amegakaryocytic thrombocytopenia

Uncertain significance 306

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

  • c.1653+6T>C Multiple submitters essential thrombocythemia
  • c.854-3T>C Multiple submitters essential thrombocythemia
  • p.Ala205Val Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ala32Val Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ala444Asp Multiple submitters essential thrombocythemia ⚠
  • p.Arg120Trp Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg123Gln Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg257His Multiple submitters thrombocythemia 2 ⚠
  • p.Arg351Cys Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg390His Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg462Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg464Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg537Gln Multiple submitters essential thrombocythemia ⚠
  • p.Arg592Gln Multiple submitters essential thrombocythemia ⚠
  • p.Arg71Gln Multiple submitters essential thrombocythemia ⚠
  • p.Arg90Gln Multiple submitters essential thrombocythemia ⚠
  • p.Asp434Glu Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Cys193Tyr Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Cys211Tyr Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gln186Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln208Lys Multiple submitters essential thrombocythemia ⚠
  • p.Glu155Val Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Glu160Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu259Lys Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Glu335Lys Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Glu420Gln Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Glu488Gly Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gly172Val Multiple submitters essential thrombocythemia ⚠
  • p.Gly270Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gly447Arg Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.His353Arg Multiple submitters essential thrombocythemia ⚠
  • p.Ile330Phe Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ile385Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Leu580Ser Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Leu582Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Lys573Glu Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Met602Thr Multiple submitters thrombocythemia 2 ⚠
  • p.Met84Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Phe105Leu Multiple submitters familial Mediterranean fever, autosomal dominant ⚠
  • p.Pro133Ser Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Pro173Ala Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Pro214Leu Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Pro275Thr Multiple submitters essential thrombocythemia ⚠
  • p.Pro413Leu Multiple submitters essential thrombocythemia ⚠
  • p.Pro551Leu Multiple submitters essential thrombocythemia ⚠
  • p.Ser228Arg Multiple submitters thrombocythemia 2 ⚠
  • p.Ser311_Gln312insHis Multiple submitters thrombocythemia 2
  • p.Ser311Phe Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ser414Leu Multiple submitters ⚠
  • p.Ser478Thr Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ser81Phe Multiple submitters ⚠
  • p.Thr393Ile Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Thr481Ser Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Thr49Ala Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Thr555Ile Multiple submitters essential thrombocythemia ⚠
  • p.Trp491Cys Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • p.Tyr328Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr378Ser Multiple submitters congenital amegakaryocytic thrombocytopenia
  • p.Tyr63His Multiple submitters essential thrombocythemia
  • p.Val366Ala Multiple submitters essential thrombocythemia ⚠
  • p.Val92Met Multiple submitters congenital amegakaryocytic thrombocytopenia ⚠
  • c.1468+5G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.1468+7C>T Single submitter essential thrombocythemia
  • c.690+13_690+37dup Single submitter congenital amegakaryocytic thrombocytopenia
  • c.853+3G>A Single submitter essential thrombocythemia
  • c.981-8G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.-13A>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*1021T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*1216A>G Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*1351T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*1506G>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*1674A>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*170G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*183G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*204C>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*255C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*326A>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*400C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*578C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*612G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*657C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*725T>C Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*871G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*901G>A Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*914C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • c.*970C>T Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala134Val Single submitter Inborn genetic diseases ⚠
  • p.Ala203Ser Single submitter essential thrombocythemia ⚠
  • p.Ala205Thr Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ala309Gly Single submitter essential thrombocythemia ⚠
  • p.Ala32Thr Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ala371Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala388Ser Single submitter ⚠
  • p.Ala388Tyr Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ala417Thr Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ala463Val Single submitter essential thrombocythemia
  • p.Ala490Pro Single submitter essential thrombocythemia ⚠
  • p.Ala547Thr Single submitter ⚠
  • p.Ala548Asp Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ala548Val Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ala68Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg170Cys Single submitter ⚠
  • p.Arg319Lys Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg321Trp Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg390Cys Single submitter essential thrombocythemia ⚠
  • p.Arg399Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg426Gln Single submitter MPL-related disorder ⚠
  • p.Arg445Gln Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg454Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg456Pro Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg458Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg514Lys Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg514Ser Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Arg523Gly Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg544Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg71Trp Single submitter essential thrombocythemia ⚠
  • p.Arg75Cys Single submitter essential thrombocythemia ⚠
  • p.Arg75His Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg90Pro Single submitter ⚠
  • p.Asn113Asp Single submitter essential thrombocythemia ⚠
  • p.Asn113Ile Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Asn117Lys Single submitter essential thrombocythemia ⚠
  • p.Asn341Tyr Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Asn395Asp Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Asp207Asn Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Asp279Gly Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Asp307Glu Single submitter essential thrombocythemia ⚠
  • p.Asp434Asn Single submitter ⚠
  • p.Asp479Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp534Glu Single submitter essential thrombocythemia ⚠
  • p.Asp545Asn Single submitter ⚠
  • p.Cys616Trp Single submitter essential thrombocythemia ⚠
  • p.Cys617Gly Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gln118His Single submitter essential thrombocythemia ⚠
  • p.Gln186Lys Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gln198Arg Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gln255Arg Single submitter ⚠
  • p.Gln290Pro Single submitter congenital amegakaryocytic thrombocytopenia 1
  • p.Gln312His Single submitter Inborn genetic diseases ⚠
  • p.Gln345His Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gln348Arg Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gln460Leu Single submitter essential thrombocythemia ⚠
  • p.Gln471Pro Single submitter essential thrombocythemia
  • p.Gln586Ter Single submitter
  • p.Gln633Ter Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Gln98Glu Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Glu149Lys Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Glu156Asp Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Glu168Lys Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Glu237Lys Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Glu338Gln Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Glu400Ala Single submitter Inborn genetic diseases
  • p.Glu407Lys Single submitter essential thrombocythemia ⚠
  • p.Glu420Asp Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Glu46Gln Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Glu46Lys Single submitter essential thrombocythemia ⚠
  • p.Glu484Lys Single submitter essential thrombocythemia ⚠
  • p.Glu488Asp Single submitter essential thrombocythemia ⚠
  • p.Glu55Lys Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Glu569Asp Single submitter essential thrombocythemia ⚠
  • p.Glu576Val Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gly131Asp Single submitter ⚠
  • p.Gly131Ser Single submitter congenital amegakaryocytic thrombocytopenia 1
  • p.Gly144Arg Single submitter essential thrombocythemia
  • p.Gly148Arg Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gly245Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly266Ser Single submitter essential thrombocythemia ⚠
  • p.Gly282Arg Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gly380Val Single submitter essential thrombocythemia
  • p.Gly404Arg Single submitter ⚠
  • p.Gly446Glu Single submitter essential thrombocythemia ⚠
  • p.Gly472Ser Single submitter ⚠
  • p.Gly540Ser Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gly600Glu Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.His308Leu Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.His353Tyr Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.His499Gln Single submitter essential thrombocythemia ⚠
  • p.Ile138Thr Single submitter ⚠
  • p.Ile139= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ile188Phe Single submitter essential thrombocythemia ⚠
  • p.Ile263Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile263Phe Single submitter ⚠
  • p.Leu125Pro Single submitter essential thrombocythemia ⚠
  • p.Leu169His Single submitter essential thrombocythemia ⚠
  • p.Leu187Met Single submitter Inborn genetic diseases ⚠
  • p.Leu206Met Single submitter essential thrombocythemia ⚠
  • p.Leu234Pro Single submitter essential thrombocythemia ⚠
  • p.Leu246Ile Single submitter essential thrombocythemia ⚠
  • p.Leu30Ser Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Leu31Pro Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Leu451Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu513_Arg514insLeu Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu549Val Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Leu582Val Single submitter essential thrombocythemia ⚠
  • p.Leu604fs Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Leu79Arg Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Lys177Thr Single submitter essential thrombocythemia ⚠
  • p.Lys573Asn Single submitter thrombocythemia 2 ⚠
  • p.Met216Val Single submitter essential thrombocythemia ⚠
  • p.Met589Ile Single submitter Inborn genetic diseases ⚠
  • p.Met589Thr Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Met84Thr Single submitter Inborn genetic diseases ⚠
  • p.Met8Leu Single submitter Inborn genetic diseases ⚠
  • p.Met8Val Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Phe105del Single submitter essential thrombocythemia
  • p.Phe314Cys Single submitter essential thrombocythemia ⚠
  • p.Phe315Cys Single submitter congenital amegakaryocytic thrombocytopenia 1 ⚠
  • p.Phe315Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe41Leu Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Phe7Leu Single submitter essential thrombocythemia ⚠
  • p.Pro133Leu Single submitter ⚠
  • p.Pro159Ala Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Pro17Ser Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Pro195Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro217His Single submitter essential thrombocythemia ⚠
  • p.Pro248Ala Single submitter essential thrombocythemia ⚠
  • p.Pro2Ser Single submitter ⚠
  • p.Pro324Arg Single submitter congenital amegakaryocytic thrombocytopenia 1 ⚠
  • p.Pro342Gln Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Pro372Leu Single submitter ⚠
  • p.Pro372Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro37Leu Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Pro394Ala Single submitter Inborn genetic diseases
  • p.Pro440Arg Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Pro453Arg Single submitter essential thrombocythemia
  • p.Pro551= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Pro96Ser Single submitter ⚠
  • p.Ser11Ala Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ser137Gly Single submitter congenital amegakaryocytic thrombocytopenia 1 ⚠
  • p.Ser145Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser162Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser179Pro Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ser179Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ser204Phe Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ser204Pro Single submitter essential thrombocythemia ⚠
  • p.Ser209Phe Single submitter ⚠
  • p.Ser226= Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Ser228Asn Single submitter essential thrombocythemia ⚠
  • p.Ser244Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser360Ile Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ser402Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser414Trp Single submitter Inborn genetic diseases ⚠
  • p.Ser505Arg Single submitter ⚠
  • p.Ser550Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser557Ala Single submitter essential thrombocythemia ⚠
  • p.Ser574Phe Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ser585Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser60Gly Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Thr183Met Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Thr225Ile Single submitter essential thrombocythemia ⚠
  • p.Thr340Lys Single submitter Inborn genetic diseases ⚠
  • p.Thr346Ile Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Thr421Pro Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Thr487Ile Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Thr578Ile Single submitter essential thrombocythemia ⚠
  • p.Thr619Asn Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Thr89Ile Single submitter Inborn genetic diseases ⚠
  • p.Trp253Arg Single submitter congenital amegakaryocytic thrombocytopenia 1
  • p.Trp474Ter Single submitter
  • p.Trp4Arg Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Trp515Ala Single submitter congenital amegakaryocytic thrombocytopenia
  • p.Trp515Ser Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Trp52Arg Single submitter Inborn genetic diseases ⚠
  • p.Tyr423His Single submitter essential thrombocythemia ⚠
  • p.Tyr521Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr591Asp Single submitter ⚠
  • p.Tyr69Cys Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • p.Val276Leu Single submitter ⚠
  • p.Val501Ala Single submitter ⚠
  • p.Val538Leu Single submitter essential thrombocythemia
  • p.Val563Ala Single submitter essential thrombocythemia ⚠
  • p.Val606Met Single submitter congenital amegakaryocytic thrombocytopenia ⚠
  • c.1468+3dup No assertion criteria congenital amegakaryocytic thrombocytopenia
  • c.691-6C>T No assertion criteria congenital amegakaryocytic thrombocytopenia
  • c.*2dup No assertion criteria congenital amegakaryocytic thrombocytopenia
  • p.Ala463Gly No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Ala527Asp No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg327Ser No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg390Ser No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Arg71= No assertion criteria congenital amegakaryocytic thrombocytopenia
  • p.Asn358Ser No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Asp479= No assertion criteria congenital amegakaryocytic thrombocytopenia
  • p.Asp534Tyr No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Asp545Glu No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Cys12Arg No assertion criteria congenital amegakaryocytic thrombocytopenia
  • p.Cys607Arg No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Glu36= No assertion criteria congenital amegakaryocytic thrombocytopenia
  • p.Gly172Cys No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gly238Ala No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gly446Val No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Gly503Ser No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Leu109= No assertion criteria congenital amegakaryocytic thrombocytopenia
  • p.Leu38= No assertion criteria congenital amegakaryocytic thrombocytopenia
  • p.Leu500Val No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Leu510= No assertion criteria congenital amegakaryocytic thrombocytopenia
  • p.Leu543Phe No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Pro147Leu No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Pro176Ser No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠
  • p.Pro195Arg No assertion criteria
  • p.Ser258Asn No assertion criteria congenital amegakaryocytic thrombocytopenia ⚠