SH2B3 — 1035 ClinVar variants

All ClinVar germline SH2B3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 655 flagged for review →

5 Pathogenic · 1 Likely pathogenic · 7 Conflicting · 17 Benign · 5 Benign/Likely benign · 319 Likely benign · 681 Uncertain significance

Full SH2B3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 655

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 7

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

SH2B3 p.Arg308Gln Conflicting Single submitter
Inborn genetic diseases
SH2B3 p.Arg508Gln Conflicting Single submitter
SH2B3 p.Glu208Gln Conflicting Single submitter
Hereditary cancer
SH2B3 p.Glu395Lys Conflicting Single submitter
thrombocythemia 1
SH2B3 p.Ile257Thr Conflicting Single submitter
SH2B3 p.Leu498Pro Conflicting Single submitter
Inborn genetic diseases
SH2B3 p.Pro155Leu Conflicting Single submitter
thrombocythemia 1

Predictors lean, ClinVar uncertain 538

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 538

SH2B3 p.Ala161Val Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Ala174Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Ala300Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Arg221Met Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Arg226Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Arg235Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Arg39Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Gln353Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Glu400Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Glu400Lys Uncertain significance Multiple submitters
primary myelofibrosis
SH2B3 p.Gly307Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.His137Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.His52Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Leu142Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Met211Val Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Pro574Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Ser213Arg Uncertain significance Multiple submitters
SH2B3-related disorder
SH2B3 p.Ser337Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Ser519Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Ala100Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala111Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala112Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala112Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala118Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala118Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala125Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala125Ser Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala125Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala14Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala156Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala157Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala157Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala160Asp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala161Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala162Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala162Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala162Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala169Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala179Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala17Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala17Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala188Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala188Ser Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala188Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala188Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala195Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala199Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala199Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala206Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala206Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala209Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala20Glu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala20Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala20Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala215Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala227Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala22Asp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala22Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala22Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala300Ser Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala315Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala342Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala342Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala351Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala351Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala36Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala36Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala37Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala38Asp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala38Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala42Asp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala49Ser Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala49Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala536Asp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala536Ser Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala56Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala56Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala60Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala84Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg119Cys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg119His Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg128Gln Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg128Trp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg139Cys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg139Ser Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg140Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg143Cys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg143Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg147Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg149Cys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg175Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg189Gln Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg202His Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg202Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg216Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg221Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg225Cys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg225Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg226Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg235His Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg235Ser Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg282Gly Uncertain significance Single submitter
SH2B3 p.Arg332Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg332Lys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg332Met Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg332Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg371Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg39Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg39Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg421Gln Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg443Cys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg443His Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg443Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg457Gln Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg457Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg50Gln Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg50Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg518Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg549Gln Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg549Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg551Gln Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg551Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg551Trp Uncertain significance Single submitter
SH2B3 p.Arg562Gln Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg562Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg59Cys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg59Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg59His Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg59Ser Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg73His Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg73Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg77Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg77His Uncertain significance Single submitter
SH2B3 p.Arg77Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg87Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg87Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg90Gln Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg94Cys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg94His Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg94Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asn271Ser Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asn296His Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asn2Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asn548Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asp212Asn Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asp231Asn Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asp234Glu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asp234Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asp281Asn Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asp349Glu Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 110

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

SH2B3 p.Arg265Gln Uncertain significance Multiple submitters
thrombocytosis disease
SH2B3 p.Arg398Cys Uncertain significance Multiple submitters
SH2B3 p.Asp231Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SH2B3 p.Ala199Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala252Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala42Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala42Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ala567Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg189Trp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg202Cys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg202Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg202Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg219His Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg225His Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg24Trp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg265Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg282Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg397Gln Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg39Trp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg425Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg43Cys Uncertain significance Single submitter
SH2B3 p.Arg457Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg457Trp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg50Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg50Trp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg566Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg80Cys Benign Single submitter
SH2B3 p.Arg90Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Arg90Trp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asn570Asp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asn570Tyr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asp284Asn Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asp436Asn Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Asp69Gly Uncertain significance Single submitter
SH2B3 p.Asp81Tyr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Cys30Ser Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Gln376Glu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Gln376His Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Gln423Arg Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Gln423Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Gln423Lys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Gln524His Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Gln66Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Gln72Arg Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Glu238Asp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Glu40Gln Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Glu40Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Glu40Lys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Glu449Asp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Glu78Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Glu78Lys Uncertain significance Single submitter
SH2B3 p.Glu78Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Gly451Ser Uncertain significance Single submitter
SH2B3 p.His33Arg Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.His33Asn Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.His527Tyr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ile285Thr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Leu201Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Leu205Gln Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Leu239Ile Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Leu239Phe Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Leu390Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Leu65Pro Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Lys354Asn Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Lys373Gln Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Met211Ile Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Phe146Cys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Phe146Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Phe146Tyr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Phe240Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Phe287Cys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Phe287Val Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Phe358Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Phe405Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Phe407Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Phe48Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Phe526Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Phe71Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Pro230Ser Likely benign Single submitter
Inborn genetic diseases
SH2B3 p.Pro23Arg Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Pro242Ser Likely benign Single submitter
SH2B3 p.Pro248Arg Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Pro248Ser Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Pro363Ser Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Pro530Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Pro53Ala Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Pro53Arg Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Pro53Gln Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ser120Arg Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ser120Asn Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ser120Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ser120Ile Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ser150Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ser150Trp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ser18Tyr Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ser245Arg Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ser245Asn Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ser360Phe Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ser444Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ser444Trp Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ser466Phe Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Ser64Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Thr355Arg Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Thr419Lys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Tyr45Cys Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Val372Gly Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Val426Leu Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Val529Ala Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Val529Met Uncertain significance Single submitter
Inborn genetic diseases
SH2B3 p.Val79Met Uncertain significance Single submitter
Inborn genetic diseases

All SH2B3 variants

Pathogenic 5

p.Asp231fs Single submitter
p.Gly409_Ile410insTer Single submitter hereditary neoplastic syndrome
p.Met1Val Single submitter primary familial polycythemia due to EPO receptor mutation
p.Pro383_Asp384insTer Single submitter juvenile myelomonocytic leukemia
p.Arg202fs No assertion criteria primary myelofibrosis

Likely pathogenic 1

p.Glu523fs Single submitter primary myelofibrosis

Conflicting classifications of pathogenicity 7

p.Arg308Gln Single submitter Inborn genetic diseases ⚠
p.Arg508Gln Single submitter ⚠
p.Glu208Gln Single submitter Hereditary cancer ⚠
p.Glu395Lys Single submitter thrombocythemia 1 ⚠
p.Ile257Thr Single submitter ⚠
p.Leu498Pro Single submitter Inborn genetic diseases ⚠
p.Pro155Leu Single submitter thrombocythemia 1 ⚠

Benign 17

c.1236+24T>G Multiple submitters
c.1236+4TGGGG[4] Multiple submitters
c.732+57T>A Multiple submitters
c.733-11835T>C Multiple submitters
c.*178G>A Multiple submitters
p.Phe182Leu Multiple submitters
p.Thr165Ser Multiple submitters
p.Trp262Arg Multiple submitters thrombocythemia 1
c.732+294T>C Single submitter
c.733-142T>C Single submitter
c.733-1957G>A Single submitter
c.733-2072C>A Single submitter
c.733-268G>C Single submitter
c.-27-245A>G Single submitter
p.Ala38Thr Single submitter
p.Ala536Thr Single submitter
p.Arg80Cys Single submitter ⚠

Benign/Likely benign 5

c.1236+4TGGGG[6] Multiple submitters
p.Leu476Phe Multiple submitters
p.Lys180= Multiple submitters Inborn genetic diseases
p.Pro243= Multiple submitters Inborn genetic diseases
p.Pro344Leu Multiple submitters

Likely benign 319

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

p.Ala206= Multiple submitters Inborn genetic diseases
p.Asp291= Multiple submitters Inborn genetic diseases
p.Gln379= Multiple submitters Inborn genetic diseases
p.Gln467= Multiple submitters Inborn genetic diseases
p.Thr419= Multiple submitters Inborn genetic diseases
p.Val456= Multiple submitters Inborn genetic diseases
c.1022-10_1022-6del Single submitter
c.1236+4TGGGG[3] Single submitter
c.733-10G>C Single submitter
c.733-1840G>C Single submitter
c.927-20C>T Single submitter
p.Ala100= Single submitter Inborn genetic diseases
p.Ala102= Single submitter Inborn genetic diseases
p.Ala111= Single submitter Inborn genetic diseases
p.Ala118= Single submitter Inborn genetic diseases
p.Ala125= Single submitter Inborn genetic diseases
p.Ala14= Single submitter Inborn genetic diseases
p.Ala151= Single submitter Inborn genetic diseases
p.Ala157= Single submitter Inborn genetic diseases
p.Ala161= Single submitter Inborn genetic diseases
p.Ala188= Single submitter Inborn genetic diseases
p.Ala195= Single submitter Inborn genetic diseases
p.Ala199= Single submitter Inborn genetic diseases
p.Ala20= Single submitter Inborn genetic diseases
p.Ala209= Single submitter Inborn genetic diseases
p.Ala21= Single submitter Inborn genetic diseases
p.Ala215= Single submitter Inborn genetic diseases
p.Ala223= Single submitter Inborn genetic diseases
p.Ala227= Single submitter Inborn genetic diseases
p.Ala300= Single submitter Inborn genetic diseases
p.Ala315= Single submitter Inborn genetic diseases
p.Ala34= Single submitter Inborn genetic diseases
p.Ala351= Single submitter Inborn genetic diseases
p.Ala36= Single submitter Inborn genetic diseases
p.Ala37= Single submitter Inborn genetic diseases
p.Ala411= Single submitter Inborn genetic diseases
p.Ala452= Single submitter Inborn genetic diseases
p.Ala550= Single submitter Inborn genetic diseases
p.Ala56= Single submitter Inborn genetic diseases
p.Ala567= Single submitter Inborn genetic diseases
p.Ala60= Single submitter Inborn genetic diseases
p.Ala84= Single submitter Inborn genetic diseases
p.Ala98= Single submitter Inborn genetic diseases
p.Arg119= Single submitter Inborn genetic diseases
p.Arg128= Single submitter Inborn genetic diseases
p.Arg140= Single submitter Inborn genetic diseases
p.Arg143= Single submitter Inborn genetic diseases
p.Arg147= Single submitter Inborn genetic diseases
p.Arg148= Single submitter Inborn genetic diseases
p.Arg149= Single submitter Inborn genetic diseases
p.Arg175= Single submitter Inborn genetic diseases
p.Arg202= Single submitter Inborn genetic diseases
p.Arg216= Single submitter Inborn genetic diseases
p.Arg219= Single submitter Inborn genetic diseases
p.Arg221= Single submitter Inborn genetic diseases
p.Arg225= Single submitter Inborn genetic diseases
p.Arg226= Single submitter Inborn genetic diseases
p.Arg235= Single submitter Inborn genetic diseases
p.Arg24= Single submitter Inborn genetic diseases
p.Arg247= Single submitter Inborn genetic diseases
p.Arg247Lys Single submitter Inborn genetic diseases
p.Arg261= Single submitter Inborn genetic diseases
p.Arg265= Single submitter Inborn genetic diseases
p.Arg282= Single submitter Inborn genetic diseases
p.Arg39= Single submitter Inborn genetic diseases
p.Arg397= Single submitter Inborn genetic diseases
p.Arg421= Single submitter Inborn genetic diseases
p.Arg425= Single submitter Inborn genetic diseases
p.Arg43= Single submitter Inborn genetic diseases
p.Arg50= Single submitter Inborn genetic diseases
p.Arg508= Single submitter Inborn genetic diseases
p.Arg549= Single submitter Inborn genetic diseases
p.Arg551= Single submitter Inborn genetic diseases
p.Arg566= Single submitter Inborn genetic diseases
p.Arg59= Single submitter Inborn genetic diseases
p.Arg73= Single submitter Inborn genetic diseases
p.Arg77= Single submitter Inborn genetic diseases
p.Arg80= Single submitter Inborn genetic diseases
p.Arg87= Single submitter Inborn genetic diseases
p.Arg90= Single submitter Inborn genetic diseases
p.Asn2= Single submitter Inborn genetic diseases
p.Asn271= Single submitter Inborn genetic diseases
p.Asn537= Single submitter Inborn genetic diseases
p.Asn548= Single submitter Inborn genetic diseases
p.Asn548Ser Single submitter Inborn genetic diseases
p.Asn570= Single submitter Inborn genetic diseases
p.Asp212= Single submitter Inborn genetic diseases
p.Asp234= Single submitter Inborn genetic diseases
p.Asp284= Single submitter Inborn genetic diseases
p.Asp336= Single submitter Inborn genetic diseases
p.Asp485_Trp492del Single submitter
p.Asp569= Single submitter Inborn genetic diseases
p.Asp69= Single submitter Inborn genetic diseases
p.Asp81= Single submitter Inborn genetic diseases
p.Cys450= Single submitter Inborn genetic diseases
p.Gln136= Single submitter Inborn genetic diseases
p.Gln251= Single submitter Inborn genetic diseases
p.Gln294= Single submitter Inborn genetic diseases
p.Gln376= Single submitter Inborn genetic diseases
p.Gln393= Single submitter Inborn genetic diseases
p.Gln408= Single submitter Inborn genetic diseases
p.Gln427= Single submitter Inborn genetic diseases
p.Gln54= Single submitter Inborn genetic diseases
p.Gln540= Single submitter Inborn genetic diseases
p.Gln54His Single submitter Inborn genetic diseases
p.Gln66= Single submitter Inborn genetic diseases
p.Glu123= Single submitter Inborn genetic diseases
p.Glu153= Single submitter Inborn genetic diseases
p.Glu194= Single submitter Inborn genetic diseases
p.Glu198= Single submitter Inborn genetic diseases
p.Glu267= Single submitter Inborn genetic diseases
p.Glu28= Single submitter Inborn genetic diseases
p.Glu288= Single submitter Inborn genetic diseases
p.Glu292= Single submitter Inborn genetic diseases
p.Glu324= Single submitter Inborn genetic diseases
p.Glu495= Single submitter Inborn genetic diseases
p.Glu51= Single submitter Inborn genetic diseases
p.Glu533= Single submitter Inborn genetic diseases
p.Glu545= Single submitter Inborn genetic diseases
p.Gly107= Single submitter Inborn genetic diseases
p.Gly131= Single submitter Inborn genetic diseases
p.Gly152= Single submitter Inborn genetic diseases
p.Gly164= Single submitter Inborn genetic diseases
p.Gly167= Single submitter Inborn genetic diseases
p.Gly214= Single submitter Inborn genetic diseases
p.Gly220= Single submitter Inborn genetic diseases
p.Gly229= Single submitter Inborn genetic diseases
p.Gly232= Single submitter Inborn genetic diseases
p.Gly3= Single submitter Inborn genetic diseases
p.Gly309= Single submitter Inborn genetic diseases
p.Gly341= Single submitter Inborn genetic diseases
p.Gly345= Single submitter Inborn genetic diseases
p.Gly382= Single submitter Inborn genetic diseases
p.Gly399= Single submitter Inborn genetic diseases
p.Gly409= Single submitter Inborn genetic diseases
p.Gly422= Single submitter Inborn genetic diseases
p.Gly451= Single submitter Inborn genetic diseases
p.Gly505= Single submitter Inborn genetic diseases
p.Gly509= Single submitter Inborn genetic diseases
p.Gly514= Single submitter Inborn genetic diseases
p.Gly82= Single submitter Inborn genetic diseases
p.Gly86= Single submitter Inborn genetic diseases
p.Gly95= Single submitter Inborn genetic diseases
p.His137= Single submitter Inborn genetic diseases
p.His33= Single submitter Inborn genetic diseases
p.His357= Single submitter Inborn genetic diseases
p.His366= Single submitter Inborn genetic diseases
p.His386= Single submitter Inborn genetic diseases
p.His413= Single submitter Inborn genetic diseases
p.His428= Single submitter Inborn genetic diseases
p.His52= Single submitter Inborn genetic diseases
p.His544= Single submitter Inborn genetic diseases
p.His55= Single submitter Inborn genetic diseases
p.Ile145= Single submitter Inborn genetic diseases
p.Ile257= Single submitter Inborn genetic diseases
p.Ile285= Single submitter Inborn genetic diseases
p.Ile286= Single submitter Inborn genetic diseases
p.Ile446= Single submitter Inborn genetic diseases
p.Ile525= Single submitter Inborn genetic diseases
p.Ile568= Single submitter Inborn genetic diseases
p.Leu115= Single submitter Inborn genetic diseases
p.Leu124= Single submitter Inborn genetic diseases
p.Leu154= Single submitter Inborn genetic diseases
p.Leu183= Single submitter Inborn genetic diseases
p.Leu196= Single submitter Inborn genetic diseases
p.Leu201= Single submitter Inborn genetic diseases
p.Leu205= Single submitter Inborn genetic diseases
p.Leu224= Single submitter Inborn genetic diseases
p.Leu272= Single submitter Inborn genetic diseases
p.Leu277= Single submitter Inborn genetic diseases
p.Leu302= Single submitter Inborn genetic diseases
p.Leu347= Single submitter Inborn genetic diseases
p.Leu359= Single submitter Inborn genetic diseases
p.Leu390= Single submitter Inborn genetic diseases
p.Leu403= Single submitter Inborn genetic diseases
p.Leu41= Single submitter Inborn genetic diseases
p.Leu416= Single submitter Inborn genetic diseases
p.Leu429= Single submitter Inborn genetic diseases
p.Leu448= Single submitter Inborn genetic diseases
p.Leu458= Single submitter Inborn genetic diseases
p.Leu47= Single submitter Inborn genetic diseases
p.Leu476= Single submitter Inborn genetic diseases
p.Leu535= Single submitter Inborn genetic diseases
p.Leu539= Single submitter Inborn genetic diseases
p.Leu6= Single submitter Inborn genetic diseases
p.Leu65= Single submitter Inborn genetic diseases
p.Leu70= Single submitter Inborn genetic diseases
p.Lys117= Single submitter Inborn genetic diseases
p.Lys180Arg Single submitter Inborn genetic diseases
p.Lys354= Single submitter Inborn genetic diseases
p.Lys99= Single submitter Inborn genetic diseases
p.Phe135Leu Single submitter Inborn genetic diseases
p.Phe138= Single submitter Inborn genetic diseases
p.Phe138Leu Single submitter Inborn genetic diseases
p.Phe240= Single submitter Inborn genetic diseases
p.Phe275= Single submitter Inborn genetic diseases
p.Phe287= Single submitter Inborn genetic diseases
p.Phe358= Single submitter Inborn genetic diseases
p.Phe431= Single submitter Inborn genetic diseases
p.Phe441= Single submitter Inborn genetic diseases
p.Phe479= Single submitter Inborn genetic diseases
p.Phe48= Single submitter Inborn genetic diseases
p.Phe75= Single submitter Inborn genetic diseases
p.Pro108= Single submitter Inborn genetic diseases
p.Pro110= Single submitter Inborn genetic diseases
p.Pro113= Single submitter Inborn genetic diseases
p.Pro116= Single submitter Inborn genetic diseases
p.Pro126= Single submitter Inborn genetic diseases
p.Pro127= Single submitter Inborn genetic diseases
p.Pro129= Single submitter Inborn genetic diseases
p.Pro130= Single submitter Inborn genetic diseases
p.Pro15Ser Single submitter Inborn genetic diseases
p.Pro163= Single submitter Inborn genetic diseases
p.Pro163Ala Single submitter Inborn genetic diseases
p.Pro166= Single submitter Inborn genetic diseases
p.Pro173= Single submitter Inborn genetic diseases
p.Pro176= Single submitter Inborn genetic diseases
p.Pro184= Single submitter Inborn genetic diseases
p.Pro19= Single submitter Inborn genetic diseases
p.Pro193= Single submitter Inborn genetic diseases
p.Pro228= Single submitter Inborn genetic diseases
p.Pro23= Single submitter Inborn genetic diseases
p.Pro230= Single submitter Inborn genetic diseases
p.Pro230Ser Single submitter Inborn genetic diseases ⚠
p.Pro233= Single submitter Inborn genetic diseases
p.Pro242Ser Single submitter ⚠
p.Pro248= Single submitter Inborn genetic diseases
p.Pro320= Single submitter Inborn genetic diseases
p.Pro325= Single submitter Inborn genetic diseases
p.Pro344= Single submitter Inborn genetic diseases
p.Pro350= Single submitter Inborn genetic diseases
p.Pro363= Single submitter Inborn genetic diseases
p.Pro368= Single submitter Inborn genetic diseases
p.Pro4= Single submitter Inborn genetic diseases
p.Pro432= Single submitter Inborn genetic diseases
p.Pro445= Single submitter Inborn genetic diseases
p.Pro447= Single submitter Inborn genetic diseases
p.Pro478= Single submitter Inborn genetic diseases
p.Pro482Ser Single submitter Inborn genetic diseases
p.Pro507= Single submitter Inborn genetic diseases
p.Pro522= Single submitter Inborn genetic diseases
p.Pro53= Single submitter Inborn genetic diseases
p.Pro530= Single submitter Inborn genetic diseases
p.Pro532= Single submitter Inborn genetic diseases
p.Pro57= Single submitter Inborn genetic diseases
p.Pro574= Single submitter Inborn genetic diseases
p.Pro96= Single submitter Inborn genetic diseases
p.Pro97= Single submitter Inborn genetic diseases
p.Ser10= Single submitter Inborn genetic diseases
p.Ser103= Single submitter Inborn genetic diseases
p.Ser13= Single submitter Inborn genetic diseases
p.Ser134= Single submitter Inborn genetic diseases
p.Ser141= Single submitter Inborn genetic diseases
p.Ser150= Single submitter Inborn genetic diseases
p.Ser18= Single submitter Inborn genetic diseases
p.Ser186= Single submitter Inborn genetic diseases
p.Ser186Ile Single submitter
p.Ser210= Single submitter Inborn genetic diseases
p.Ser213= Single submitter Inborn genetic diseases
p.Ser245= Single submitter Inborn genetic diseases
p.Ser256= Single submitter Inborn genetic diseases
p.Ser27= Single submitter Inborn genetic diseases
p.Ser303= Single submitter Inborn genetic diseases
p.Ser326= Single submitter Inborn genetic diseases
p.Ser328= Single submitter Inborn genetic diseases
p.Ser330= Single submitter Inborn genetic diseases
p.Ser334= Single submitter Inborn genetic diseases
p.Ser360= Single submitter Inborn genetic diseases
p.Ser394= Single submitter Inborn genetic diseases
p.Ser433= Single submitter Inborn genetic diseases
p.Ser444= Single submitter Inborn genetic diseases
p.Ser459= Single submitter Inborn genetic diseases
p.Ser466= Single submitter Inborn genetic diseases
p.Ser480= Single submitter Inborn genetic diseases
p.Ser486= Single submitter Inborn genetic diseases
p.Ser494= Single submitter Inborn genetic diseases
p.Ser531= Single submitter Inborn genetic diseases
p.Ser538= Single submitter Inborn genetic diseases
p.Ser553= Single submitter Inborn genetic diseases
p.Ser64= Single submitter Inborn genetic diseases
p.Ter576= Single submitter Inborn genetic diseases
p.Thr159= Single submitter Inborn genetic diseases
p.Thr165= Single submitter Inborn genetic diseases
p.Thr165Ala Single submitter Inborn genetic diseases
p.Thr172= Single submitter Inborn genetic diseases
p.Thr264= Single submitter Inborn genetic diseases
p.Thr274= Single submitter Inborn genetic diseases
p.Thr306= Single submitter Inborn genetic diseases
p.Thr313= Single submitter Inborn genetic diseases
p.Thr327= Single submitter Inborn genetic diseases
p.Thr335= Single submitter Inborn genetic diseases
p.Thr355= Single submitter Inborn genetic diseases
p.Thr396= Single submitter Inborn genetic diseases
p.Thr474= Single submitter Inborn genetic diseases
p.Thr573= Single submitter Inborn genetic diseases
p.Tyr273= Single submitter Inborn genetic diseases
p.Tyr362= Single submitter Inborn genetic diseases
p.Tyr401= Single submitter Inborn genetic diseases
p.Tyr555= Single submitter Inborn genetic diseases
p.Tyr74= Single submitter Inborn genetic diseases

Uncertain significance 681

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

p.Ala161Val Multiple submitters Inborn genetic diseases ⚠
p.Ala174Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala300Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg221Met Multiple submitters Inborn genetic diseases ⚠
p.Arg226Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg235Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg265Gln Multiple submitters thrombocytosis disease ⚠
p.Arg398Cys Multiple submitters ⚠
p.Arg39Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg566Trp Multiple submitters thrombocythemia 1
p.Asp231Tyr Multiple submitters Inborn genetic diseases ⚠
p.Gln353Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu400Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu400Lys Multiple submitters primary myelofibrosis ⚠
p.Gly307Arg Multiple submitters Inborn genetic diseases ⚠
p.His137Asp Multiple submitters Inborn genetic diseases ⚠
p.His52Gln Multiple submitters Inborn genetic diseases ⚠
p.Leu142Phe Multiple submitters Inborn genetic diseases ⚠
p.Met211Val Multiple submitters Inborn genetic diseases ⚠
p.Pro574Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser213Arg Multiple submitters SH2B3-related disorder ⚠
p.Ser337Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser519Phe Multiple submitters Inborn genetic diseases ⚠
c.733-11829G>A Single submitter
c.733-7C>T Single submitter
c.*8G>C Single submitter SH2B3-related disorder
p.Ala100Pro Single submitter Inborn genetic diseases ⚠
p.Ala111Gly Single submitter Inborn genetic diseases ⚠
p.Ala112Pro Single submitter Inborn genetic diseases ⚠
p.Ala112Thr Single submitter Inborn genetic diseases ⚠
p.Ala118Gly Single submitter Inborn genetic diseases ⚠
p.Ala118Val Single submitter Inborn genetic diseases ⚠
p.Ala125Pro Single submitter Inborn genetic diseases ⚠
p.Ala125Ser Single submitter Inborn genetic diseases ⚠
p.Ala125Val Single submitter Inborn genetic diseases ⚠
p.Ala14Thr Single submitter Inborn genetic diseases ⚠
p.Ala156Gly Single submitter Inborn genetic diseases ⚠
p.Ala157Thr Single submitter Inborn genetic diseases ⚠
p.Ala157Val Single submitter Inborn genetic diseases ⚠
p.Ala160Asp Single submitter Inborn genetic diseases ⚠
p.Ala161Thr Single submitter Inborn genetic diseases ⚠
p.Ala162Gly Single submitter Inborn genetic diseases ⚠
p.Ala162Thr Single submitter Inborn genetic diseases ⚠
p.Ala162Val Single submitter Inborn genetic diseases ⚠
p.Ala169Gly Single submitter Inborn genetic diseases ⚠
p.Ala179Thr Single submitter Inborn genetic diseases ⚠
p.Ala17Gly Single submitter Inborn genetic diseases ⚠
p.Ala17Pro Single submitter Inborn genetic diseases ⚠
p.Ala188Gly Single submitter Inborn genetic diseases ⚠
p.Ala188Ser Single submitter Inborn genetic diseases ⚠
p.Ala188Thr Single submitter Inborn genetic diseases ⚠
p.Ala188Val Single submitter Inborn genetic diseases ⚠
p.Ala195Val Single submitter Inborn genetic diseases ⚠
p.Ala199Gly Single submitter Inborn genetic diseases ⚠
p.Ala199Pro Single submitter Inborn genetic diseases ⚠
p.Ala199Val Single submitter Inborn genetic diseases ⚠
p.Ala206Thr Single submitter Inborn genetic diseases ⚠
p.Ala206Val Single submitter Inborn genetic diseases ⚠
p.Ala209Val Single submitter Inborn genetic diseases ⚠
p.Ala20Glu Single submitter Inborn genetic diseases ⚠
p.Ala20Thr Single submitter Inborn genetic diseases ⚠
p.Ala20Val Single submitter Inborn genetic diseases ⚠
p.Ala215Thr Single submitter Inborn genetic diseases ⚠
p.Ala227Val Single submitter Inborn genetic diseases ⚠
p.Ala22Asp Single submitter Inborn genetic diseases ⚠
p.Ala22Gly Single submitter Inborn genetic diseases ⚠
p.Ala22Thr Single submitter Inborn genetic diseases ⚠
p.Ala252Gly Single submitter Inborn genetic diseases ⚠
p.Ala300Ser Single submitter Inborn genetic diseases ⚠
p.Ala315Thr Single submitter Inborn genetic diseases ⚠
p.Ala342Pro Single submitter Inborn genetic diseases ⚠
p.Ala342Thr Single submitter Inborn genetic diseases ⚠
p.Ala351Pro Single submitter Inborn genetic diseases ⚠
p.Ala351Val Single submitter Inborn genetic diseases ⚠
p.Ala36Gly Single submitter Inborn genetic diseases ⚠
p.Ala36Thr Single submitter Inborn genetic diseases ⚠
p.Ala37Val Single submitter Inborn genetic diseases ⚠
p.Ala385Asp Single submitter Inborn genetic diseases
p.Ala385Val Single submitter Inborn genetic diseases
p.Ala38Asp Single submitter Inborn genetic diseases ⚠
p.Ala38Pro Single submitter Inborn genetic diseases ⚠
p.Ala411Ser Single submitter Inborn genetic diseases
p.Ala42Asp Single submitter Inborn genetic diseases ⚠
p.Ala42Thr Single submitter Inborn genetic diseases ⚠
p.Ala42Val Single submitter Inborn genetic diseases ⚠
p.Ala49Ser Single submitter Inborn genetic diseases ⚠
p.Ala49Val Single submitter Inborn genetic diseases ⚠
p.Ala536Asp Single submitter Inborn genetic diseases ⚠
p.Ala536Ser Single submitter Inborn genetic diseases ⚠
p.Ala567Val Single submitter Inborn genetic diseases ⚠
p.Ala56Thr Single submitter Inborn genetic diseases ⚠
p.Ala56Val Single submitter Inborn genetic diseases ⚠
p.Ala60Val Single submitter Inborn genetic diseases ⚠
p.Ala84Val Single submitter Inborn genetic diseases ⚠
p.Arg119Cys Single submitter Inborn genetic diseases ⚠
p.Arg119His Single submitter Inborn genetic diseases ⚠
p.Arg119Leu Single submitter
p.Arg128Gln Single submitter Inborn genetic diseases ⚠
p.Arg128Trp Single submitter Inborn genetic diseases ⚠
p.Arg139Cys Single submitter Inborn genetic diseases ⚠
p.Arg139Ser Single submitter Inborn genetic diseases ⚠
p.Arg140Leu Single submitter Inborn genetic diseases ⚠
p.Arg143Cys Single submitter Inborn genetic diseases ⚠
p.Arg143Leu Single submitter Inborn genetic diseases ⚠
p.Arg147Pro Single submitter Inborn genetic diseases ⚠
p.Arg149Cys Single submitter Inborn genetic diseases ⚠
p.Arg175Pro Single submitter Inborn genetic diseases ⚠
p.Arg189Gln Single submitter Inborn genetic diseases ⚠
p.Arg189Trp Single submitter Inborn genetic diseases ⚠
p.Arg202Cys Single submitter Inborn genetic diseases ⚠
p.Arg202Gly Single submitter Inborn genetic diseases ⚠
p.Arg202His Single submitter Inborn genetic diseases ⚠
p.Arg202Leu Single submitter Inborn genetic diseases ⚠
p.Arg202Pro Single submitter Inborn genetic diseases ⚠
p.Arg216Gly Single submitter Inborn genetic diseases ⚠
p.Arg219His Single submitter Inborn genetic diseases ⚠
p.Arg219Pro Single submitter Inborn genetic diseases
p.Arg221Thr Single submitter Inborn genetic diseases ⚠
p.Arg225Cys Single submitter Inborn genetic diseases ⚠
p.Arg225Gly Single submitter Inborn genetic diseases
p.Arg225His Single submitter Inborn genetic diseases ⚠
p.Arg225Pro Single submitter Inborn genetic diseases ⚠
p.Arg226Gly Single submitter Inborn genetic diseases ⚠
p.Arg235His Single submitter Inborn genetic diseases ⚠
p.Arg235Ser Single submitter Inborn genetic diseases ⚠
p.Arg24Trp Single submitter Inborn genetic diseases ⚠
p.Arg265Leu Single submitter Inborn genetic diseases ⚠
p.Arg282Gly Single submitter ⚠
p.Arg282Pro Single submitter Inborn genetic diseases ⚠
p.Arg332Gly Single submitter Inborn genetic diseases ⚠
p.Arg332Lys Single submitter Inborn genetic diseases ⚠
p.Arg332Met Single submitter Inborn genetic diseases ⚠
p.Arg332Thr Single submitter Inborn genetic diseases ⚠
p.Arg371Thr Single submitter Inborn genetic diseases ⚠
p.Arg397Gln Single submitter Inborn genetic diseases ⚠
p.Arg39Gly Single submitter Inborn genetic diseases ⚠
p.Arg39Leu Single submitter Inborn genetic diseases ⚠
p.Arg39Trp Single submitter Inborn genetic diseases ⚠
p.Arg421Gln Single submitter Inborn genetic diseases ⚠
p.Arg425Leu Single submitter Inborn genetic diseases ⚠
p.Arg43Cys Single submitter ⚠
p.Arg443Cys Single submitter Inborn genetic diseases ⚠
p.Arg443His Single submitter Inborn genetic diseases ⚠
p.Arg443Leu Single submitter Inborn genetic diseases ⚠
p.Arg457Gln Single submitter Inborn genetic diseases ⚠
p.Arg457Gly Single submitter Inborn genetic diseases ⚠
p.Arg457Leu Single submitter Inborn genetic diseases ⚠
p.Arg457Trp Single submitter Inborn genetic diseases ⚠
p.Arg50Gln Single submitter Inborn genetic diseases ⚠
p.Arg50Leu Single submitter Inborn genetic diseases ⚠
p.Arg50Pro Single submitter Inborn genetic diseases ⚠
p.Arg50Trp Single submitter Inborn genetic diseases ⚠
p.Arg518Leu Single submitter Inborn genetic diseases ⚠
p.Arg549Gln Single submitter Inborn genetic diseases ⚠
p.Arg549Gly Single submitter Inborn genetic diseases ⚠
p.Arg551Gln Single submitter Inborn genetic diseases ⚠
p.Arg551Pro Single submitter Inborn genetic diseases ⚠
p.Arg551Trp Single submitter ⚠
p.Arg562Gln Single submitter Inborn genetic diseases ⚠
p.Arg562Gly Single submitter Inborn genetic diseases ⚠
p.Arg566Gly Single submitter Inborn genetic diseases ⚠
p.Arg59Cys Single submitter Inborn genetic diseases ⚠
p.Arg59Gly Single submitter Inborn genetic diseases ⚠
p.Arg59His Single submitter Inborn genetic diseases ⚠
p.Arg59Ser Single submitter Inborn genetic diseases ⚠
p.Arg73His Single submitter Inborn genetic diseases ⚠
p.Arg73Leu Single submitter Inborn genetic diseases ⚠
p.Arg77Gly Single submitter Inborn genetic diseases ⚠
p.Arg77His Single submitter ⚠
p.Arg77Leu Single submitter Inborn genetic diseases ⚠
p.Arg87Gly Single submitter Inborn genetic diseases ⚠
p.Arg87Leu Single submitter Inborn genetic diseases ⚠
p.Arg90Gln Single submitter Inborn genetic diseases ⚠
p.Arg90Pro Single submitter Inborn genetic diseases ⚠
p.Arg90Trp Single submitter Inborn genetic diseases ⚠
p.Arg94Cys Single submitter Inborn genetic diseases ⚠
p.Arg94His Single submitter Inborn genetic diseases ⚠
p.Arg94Leu Single submitter Inborn genetic diseases ⚠
p.Asn271Ser Single submitter Inborn genetic diseases ⚠
p.Asn296His Single submitter Inborn genetic diseases ⚠
p.Asn2Thr Single submitter Inborn genetic diseases ⚠
p.Asn406Ser Single submitter Inborn genetic diseases
p.Asn548Thr Single submitter Inborn genetic diseases ⚠
p.Asn570Asp Single submitter Inborn genetic diseases ⚠
p.Asn570His Single submitter Inborn genetic diseases
p.Asn570Ser Single submitter Inborn genetic diseases
p.Asn570Tyr Single submitter Inborn genetic diseases ⚠
p.Asp212Asn Single submitter Inborn genetic diseases ⚠
p.Asp231Asn Single submitter Inborn genetic diseases ⚠
p.Asp234Glu Single submitter Inborn genetic diseases ⚠
p.Asp234Gly Single submitter Inborn genetic diseases ⚠
p.Asp281Asn Single submitter Inborn genetic diseases ⚠
p.Asp284Asn Single submitter Inborn genetic diseases ⚠
p.Asp291Glu Single submitter Inborn genetic diseases
p.Asp291His Single submitter Inborn genetic diseases
p.Asp349Glu Single submitter Inborn genetic diseases ⚠
p.Asp356Asn Single submitter Inborn genetic diseases ⚠
p.Asp356Glu Single submitter Inborn genetic diseases ⚠
p.Asp384Gly Single submitter Inborn genetic diseases ⚠
p.Asp436Asn Single submitter Inborn genetic diseases ⚠
p.Asp455Ala Single submitter Inborn genetic diseases
p.Asp455His Single submitter Inborn genetic diseases
p.Asp552Glu Single submitter Inborn genetic diseases ⚠
p.Asp552Gly Single submitter Inborn genetic diseases ⚠
p.Asp554His Single submitter Inborn genetic diseases ⚠
p.Asp554Tyr Single submitter Inborn genetic diseases
p.Asp558Asn Single submitter Inborn genetic diseases ⚠
p.Asp558Tyr Single submitter Inborn genetic diseases ⚠
p.Asp569Glu Single submitter Inborn genetic diseases ⚠
p.Asp69Gly Single submitter ⚠
p.Asp81Asn Single submitter Inborn genetic diseases ⚠
p.Asp81His Single submitter Inborn genetic diseases ⚠
p.Asp81Tyr Single submitter Inborn genetic diseases ⚠
p.Cys254Arg Single submitter Inborn genetic diseases ⚠
p.Cys263Gly Single submitter Inborn genetic diseases ⚠
p.Cys263Tyr Single submitter Inborn genetic diseases ⚠
p.Cys305Gly Single submitter Inborn genetic diseases ⚠
p.Cys305Phe Single submitter Inborn genetic diseases ⚠
p.Cys30Arg Single submitter Inborn genetic diseases ⚠
p.Cys30Ser Single submitter Inborn genetic diseases ⚠
p.Cys30Tyr Single submitter familial myelofibrosis ⚠
p.Cys424Arg Single submitter Inborn genetic diseases ⚠
p.Cys450Gly Single submitter Inborn genetic diseases ⚠
p.Cys450Trp Single submitter Inborn genetic diseases ⚠
p.Cys454Arg Single submitter Inborn genetic diseases
p.Cys472Arg Single submitter Inborn genetic diseases ⚠
p.Cys472Tyr Single submitter Inborn genetic diseases ⚠
p.Gln218Lys Single submitter Inborn genetic diseases ⚠
p.Gln258Arg Single submitter Inborn genetic diseases ⚠
p.Gln258Ter Single submitter
p.Gln353His Single submitter Inborn genetic diseases ⚠
p.Gln353Pro Single submitter Inborn genetic diseases ⚠
p.Gln376Glu Single submitter Inborn genetic diseases ⚠
p.Gln376His Single submitter Inborn genetic diseases ⚠
p.Gln408Arg Single submitter Inborn genetic diseases ⚠
p.Gln408His Single submitter Inborn genetic diseases ⚠
p.Gln423Arg Single submitter Inborn genetic diseases ⚠
p.Gln423His Single submitter Inborn genetic diseases ⚠
p.Gln423Leu Single submitter Inborn genetic diseases ⚠
p.Gln423Lys Single submitter Inborn genetic diseases ⚠
p.Gln427Arg Single submitter Inborn genetic diseases ⚠
p.Gln427His Single submitter Inborn genetic diseases ⚠
p.Gln442His Single submitter Inborn genetic diseases ⚠
p.Gln442Pro Single submitter primary myelofibrosis ⚠
p.Gln44Arg Single submitter Inborn genetic diseases ⚠
p.Gln467Pro Single submitter Inborn genetic diseases ⚠
p.Gln524His Single submitter Inborn genetic diseases ⚠
p.Gln571Arg Single submitter Inborn genetic diseases ⚠
p.Gln66Pro Single submitter Inborn genetic diseases ⚠
p.Gln72Arg Single submitter Inborn genetic diseases ⚠
p.Gln72Pro Single submitter Inborn genetic diseases ⚠
p.Gln7Lys Single submitter Inborn genetic diseases ⚠
p.Glu122Asp Single submitter Inborn genetic diseases ⚠
p.Glu122Gln Single submitter Inborn genetic diseases ⚠
p.Glu123Asp Single submitter Inborn genetic diseases ⚠
p.Glu153Gln Single submitter Inborn genetic diseases ⚠
p.Glu168Val Single submitter Inborn genetic diseases ⚠
p.Glu171Asp Single submitter Inborn genetic diseases ⚠
p.Glu208Val Single submitter Inborn genetic diseases ⚠
p.Glu238Asp Single submitter Inborn genetic diseases ⚠
p.Glu238Gly Single submitter Inborn genetic diseases ⚠
p.Glu238Lys Single submitter Inborn genetic diseases ⚠
p.Glu288Gln Single submitter Inborn genetic diseases ⚠
p.Glu292Ala Single submitter Inborn genetic diseases ⚠
p.Glu292Lys Single submitter primary myelofibrosis ⚠
p.Glu301Asp Single submitter Inborn genetic diseases ⚠
p.Glu314Lys Single submitter Inborn genetic diseases ⚠
p.Glu316Asp Single submitter ⚠
p.Glu316Gln Single submitter Inborn genetic diseases ⚠
p.Glu324Asp Single submitter Inborn genetic diseases ⚠
p.Glu324Gly Single submitter Inborn genetic diseases ⚠
p.Glu40Gln Single submitter Inborn genetic diseases ⚠
p.Glu40Gly Single submitter Inborn genetic diseases ⚠
p.Glu40Lys Single submitter Inborn genetic diseases ⚠
p.Glu449Asp Single submitter Inborn genetic diseases ⚠
p.Glu487Ala Single submitter Inborn genetic diseases ⚠
p.Glu495Asp Single submitter Inborn genetic diseases ⚠
p.Glu51Asp Single submitter Inborn genetic diseases ⚠
p.Glu51Gln Single submitter Inborn genetic diseases ⚠
p.Glu51Gly Single submitter Inborn genetic diseases ⚠
p.Glu543Asp Single submitter Inborn genetic diseases ⚠
p.Glu543Gln Single submitter Inborn genetic diseases ⚠
p.Glu543Gly Single submitter Inborn genetic diseases ⚠
p.Glu545Lys Single submitter Inborn genetic diseases ⚠
p.Glu78Gly Single submitter Inborn genetic diseases ⚠
p.Glu78Lys Single submitter ⚠
p.Glu78Val Single submitter Inborn genetic diseases ⚠
p.Gly114Cys Single submitter Inborn genetic diseases ⚠
p.Gly131Ala Single submitter Inborn genetic diseases ⚠
p.Gly131Arg Single submitter Inborn genetic diseases ⚠
p.Gly152Ala Single submitter Inborn genetic diseases ⚠
p.Gly164Glu Single submitter Inborn genetic diseases ⚠
p.Gly167Arg Single submitter Inborn genetic diseases ⚠
p.Gly177Ser Single submitter Inborn genetic diseases ⚠
p.Gly214Arg Single submitter Inborn genetic diseases
p.Gly214Glu Single submitter Inborn genetic diseases
p.Gly214Val Single submitter Inborn genetic diseases
p.Gly232Arg Single submitter Inborn genetic diseases ⚠
p.Gly25Asp Single submitter Inborn genetic diseases ⚠
p.Gly309Arg Single submitter Inborn genetic diseases ⚠