TUBB1 — 346 ClinVar variants
All ClinVar germline TUBB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 195 flagged for review →
3 Pathogenic · 2 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 25 Conflicting · 6 Benign · 17 Benign/Likely benign · 71 Likely benign · 210 Uncertain significance
Full TUBB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 195
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 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TUBB1 p.Arg251His
Conflicting
Single submitter
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.Arg77Gln Conflicting Single submitter
-
TUBB1 p.Asp249His
Conflicting
Single submitter
TUBB1-related disorder
- TUBB1 p.Glu441Ala Conflicting Single submitter
-
TUBB1 p.Gly109Glu
Conflicting
Single submitter
thrombocytopenia
-
TUBB1 p.Gly146Arg
Conflicting
Single submitter
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.His6Arg Conflicting Single submitter
-
TUBB1 p.Ile193Thr
Conflicting
Single submitter
macrothrombocytopenia, isolated, 1, autosomal dominant
-
TUBB1 p.Thr439Met
Conflicting
Single submitter
Inborn genetic diseases
- TUBB1 p.Val136Ile Conflicting Single submitter
-
TUBB1 p.Val5Ile
Conflicting
Single submitter
thrombocytopenia
Predictors lean, ClinVar uncertain 140
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TUBB1 p.Ala185Val
Uncertain significance
Multiple submitters
Macrothrombocytopenia
-
TUBB1 p.Arg162Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TUBB1 p.Arg162Trp Uncertain significance Multiple submitters
-
TUBB1 p.Arg241Trp
Uncertain significance
Multiple submitters
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.Arg262Cys Uncertain significance Multiple submitters
- TUBB1 p.Arg306His Uncertain significance Multiple submitters
- TUBB1 p.Arg318Gln Uncertain significance Multiple submitters
-
TUBB1 p.Arg57Lys
Uncertain significance
Multiple submitters
macrothrombocytopenia, isolated, 1, autosomal dominant
-
TUBB1 p.Asp197Glu
Uncertain significance
Multiple submitters
TUBB1-related disorder
-
TUBB1 p.Asp295Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TUBB1 p.Asp427Asn Uncertain significance Multiple submitters
- TUBB1 p.Glu111Lys Uncertain significance Multiple submitters
-
TUBB1 p.Gly17Arg
Uncertain significance
Multiple submitters
TUBB1-related disorder
- TUBB1 p.Ile30Val Uncertain significance Multiple submitters
- TUBB1 p.Ile7Val Uncertain significance Multiple submitters
-
TUBB1 p.Met23Thr
Uncertain significance
Multiple submitters
thrombocytopenia
-
TUBB1 p.Met257Val
Uncertain significance
Multiple submitters
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.Met388Thr Uncertain significance Multiple submitters
-
TUBB1 p.Pro160Leu
Uncertain significance
Multiple submitters
congenital hypothyroidism
- TUBB1 p.Pro243Leu Uncertain significance Multiple submitters
-
TUBB1 p.Pro346Ser
Uncertain significance
Multiple submitters
macrothrombocytopenia, isolated, 1, autosomal dominant
-
TUBB1 p.Ser322Phe
Uncertain significance
Multiple submitters
macrothrombocytopenia, isolated, 1, autosomal dominant
-
TUBB1 p.Thr107Met
Uncertain significance
Multiple submitters
macrothrombocytopenia, isolated, 1, autosomal dominant
-
TUBB1 p.Thr107Pro
Uncertain significance
Multiple submitters
macrothrombocytopenia, isolated, 1, autosomal dominant
-
TUBB1 p.Val333Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TUBB1 p.Val333Met
Uncertain significance
Multiple submitters
macrothrombocytopenia, isolated, 1, autosomal dominant
-
TUBB1 p.Ala102Val
Uncertain significance
Single submitter
thrombocytopenia
- TUBB1 p.Ala198Thr Uncertain significance Single submitter
- TUBB1 p.Ala206Val Uncertain significance Single submitter
- TUBB1 p.Ala275Asp Uncertain significance Single submitter
- TUBB1 p.Ala287Thr Uncertain significance Single submitter
- TUBB1 p.Ala287Val Uncertain significance Single submitter
- TUBB1 p.Ala364Thr Uncertain significance Single submitter
- TUBB1 p.Ala365Val Uncertain significance Single submitter
- TUBB1 p.Ala83Thr Uncertain significance Single submitter
- TUBB1 p.Ala97Thr Uncertain significance Single submitter
- TUBB1 p.Arg241Gln Uncertain significance Single submitter
- TUBB1 p.Arg282Pro Uncertain significance Single submitter
-
TUBB1 p.Arg2Cys
Uncertain significance
Single submitter
thrombocytopenia
-
TUBB1 p.Arg2Pro
Uncertain significance
Single submitter
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.Arg37Cys Uncertain significance Single submitter
- TUBB1 p.Arg37His Uncertain significance Single submitter
-
TUBB1 p.Arg46Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB1 p.Arg62Gln Uncertain significance Single submitter
- TUBB1 p.Arg77Pro Uncertain significance Single submitter
- TUBB1 p.Asn14Lys Uncertain significance Single submitter
- TUBB1 p.Asn184Asp Uncertain significance Single submitter
-
TUBB1 p.Asn256Asp
Uncertain significance
Single submitter
Macrothrombocytopenia
- TUBB1 p.Asn348Lys Uncertain significance Single submitter
- TUBB1 p.Asn406His Uncertain significance Single submitter
- TUBB1 p.Asn94Thr Uncertain significance Single submitter
-
TUBB1 p.Asp161Glu
Uncertain significance
Single submitter
Macrothrombocytopenia
-
TUBB1 p.Asp224Val
Uncertain significance
Single submitter
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.Asp31Asn Uncertain significance Single submitter
- TUBB1 p.Asp355Asn Uncertain significance Single submitter
- TUBB1 p.Asp36Asn Uncertain significance Single submitter
-
TUBB1 p.Asp36His
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB1 p.Asp88Asn Uncertain significance Single submitter
- TUBB1 p.Cys129Tyr Uncertain significance Single submitter
- TUBB1 p.Cys201Arg Uncertain significance Single submitter
-
TUBB1 p.Gln11Pro
Uncertain significance
Single submitter
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.Gln131Arg Uncertain significance Single submitter
- TUBB1 p.Gln424Arg Uncertain significance Single submitter
- TUBB1 p.Glu158Ala Uncertain significance Single submitter
- TUBB1 p.Glu194Asp Uncertain significance Single submitter
-
TUBB1 p.Glu288Lys
Uncertain significance
Single submitter
thrombocytopenia
-
TUBB1 p.Glu383Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB1 p.Glu401Lys Uncertain significance Single submitter
- TUBB1 p.Glu401Val Uncertain significance Single submitter
-
TUBB1 p.Glu407Lys
Uncertain significance
Single submitter
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.Glu421Lys Uncertain significance Single submitter
-
TUBB1 p.Glu69Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB1 p.Gly10Arg
Uncertain significance
Single submitter
thrombocytopenia
- TUBB1 p.Gly132Arg Uncertain significance Single submitter
- TUBB1 p.Gly141Ala Uncertain significance Single submitter
- TUBB1 p.Gly146Ala Uncertain significance Single submitter
- TUBB1 p.Gly17Glu Uncertain significance Single submitter
- TUBB1 p.Gly235Ser Uncertain significance Single submitter
-
TUBB1 p.Gly244Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB1 p.Gly402Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB1 p.Gly450Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB1 p.Gly56Ser Uncertain significance Single submitter
- TUBB1 p.Gly93Asp Uncertain significance Single submitter
- TUBB1 p.His122Tyr Uncertain significance Single submitter
- TUBB1 p.His264Arg Uncertain significance Single submitter
-
TUBB1 p.His264Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB1 p.His264Tyr Uncertain significance Single submitter
- TUBB1 p.Ile202Ser Uncertain significance Single submitter
-
TUBB1 p.Ile30Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB1 p.Ile345Phe Uncertain significance Single submitter
- TUBB1 p.Leu250Arg Uncertain significance Single submitter
- TUBB1 p.Leu289Pro Uncertain significance Single submitter
- TUBB1 p.Leu305His Uncertain significance Single submitter
- TUBB1 p.Leu331Phe Uncertain significance Single submitter
- TUBB1 p.Lys252Glu Uncertain significance Single submitter
- TUBB1 p.Lys390Asn Uncertain significance Single submitter
- TUBB1 p.Lys58Arg Uncertain significance Single submitter
- TUBB1 p.Met147Thr Uncertain significance Single submitter
- TUBB1 p.Met170Leu Uncertain significance Single submitter
- TUBB1 p.Met23Arg Uncertain significance Single submitter
- TUBB1 p.Met257Thr Uncertain significance Single submitter
- TUBB1 p.Met363Ile Uncertain significance Single submitter
- TUBB1 p.Phe260Val Uncertain significance Single submitter
- TUBB1 p.Phe266Leu Uncertain significance Single submitter
- TUBB1 p.Phe341Ser Uncertain significance Single submitter
- TUBB1 p.Phe378Ser Uncertain significance Single submitter
- TUBB1 p.Phe408Ile Uncertain significance Single submitter
- TUBB1 p.Pro182Ser Uncertain significance Single submitter
- TUBB1 p.Pro220Ser Uncertain significance Single submitter
- TUBB1 p.Pro357Leu Uncertain significance Single submitter
- TUBB1 p.Pro358Ser Uncertain significance Single submitter
- TUBB1 p.Pro87Ser Uncertain significance Single submitter
- TUBB1 p.Ser124Asn Uncertain significance Single submitter
- TUBB1 p.Ser138Phe Uncertain significance Single submitter
- TUBB1 p.Thr218Met Uncertain significance Single submitter
-
TUBB1 p.Thr312Arg
Uncertain significance
Single submitter
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.Thr372Arg Uncertain significance Single submitter
- TUBB1 p.Thr372Lys Uncertain significance Single submitter
- TUBB1 p.Thr372Met Uncertain significance Single submitter
- TUBB1 p.Tyr208Cys Uncertain significance Single submitter
- TUBB1 p.Tyr398Asn Uncertain significance Single submitter
- TUBB1 p.Tyr51Cys Uncertain significance Single submitter
- TUBB1 p.Tyr51His Uncertain significance Single submitter
- TUBB1 p.Tyr51Phe Uncertain significance Single submitter
- TUBB1 p.Val119Ala Uncertain significance Single submitter
- TUBB1 p.Val169Ile Uncertain significance Single submitter
-
TUBB1 p.Val229Met
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB1 p.Val255Met Uncertain significance Single submitter
-
TUBB1 p.Val258Ala
Uncertain significance
Single submitter
thrombocytopenia
- TUBB1 p.Val326Leu Uncertain significance Single submitter
-
TUBB1 p.Val342Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB1 p.Val342Gly Uncertain significance Single submitter
- TUBB1 p.Val395Ala Uncertain significance Single submitter
-
TUBB1 p.Val438Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TUBB1 p.Asn347Lys
Uncertain significance
No assertion criteria
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.Asn52Ile Uncertain significance No assertion criteria
-
TUBB1 p.Cys354Arg
Uncertain significance
No assertion criteria
macrothrombocytopenia, isolated, 1, autosomal dominant
-
TUBB1 p.Gly13Ser
Uncertain significance
No assertion criteria
macrothrombocytopenia, isolated, 1, autosomal dominant
-
TUBB1 p.Gly141Arg
Uncertain significance
No assertion criteria
macrothrombocytopenia, isolated, 1, autosomal dominant
-
TUBB1 p.Ser400Asn
Uncertain significance
No assertion criteria
macrothrombocytopenia, isolated, 1, autosomal dominant
Predictors split 44
The independent predictors disagree with each other — read with care.
-
TUBB1 p.Arg213Cys
Uncertain significance
Multiple submitters
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.Arg282Gln Uncertain significance Multiple submitters
- TUBB1 p.Arg306Cys Benign/Likely benign Multiple submitters
- TUBB1 p.Asp31Gly Uncertain significance Multiple submitters
- TUBB1 p.Gln43His Benign/Likely benign Multiple submitters
- TUBB1 p.Gln43Pro Benign/Likely benign Multiple submitters
-
TUBB1 p.Glu53Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TUBB1 p.Gly38Arg Benign/Likely benign Multiple submitters
- TUBB1 p.Ile24Thr Uncertain significance Multiple submitters
-
TUBB1 p.Leu284Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TUBB1 p.Lys174Gln
Uncertain significance
Multiple submitters
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.Thr274Met Benign/Likely benign Multiple submitters
- TUBB1 p.Ala248Thr Uncertain significance Single submitter
- TUBB1 p.Ala254Val Uncertain significance Single submitter
- TUBB1 p.Ala302Val Uncertain significance Single submitter
- TUBB1 p.Arg213His Conflicting Single submitter
- TUBB1 p.Arg2Gly Uncertain significance Single submitter
- TUBB1 p.Arg309His Uncertain significance Single submitter
- TUBB1 p.Arg359Gln Uncertain significance Single submitter
-
TUBB1 p.Arg359Trp
Conflicting
Single submitter
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.Asn204Ser Uncertain significance Single submitter
-
TUBB1 p.Asp304Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TUBB1 p.Asp355Glu Uncertain significance Single submitter
- TUBB1 p.Cys12Ser Uncertain significance Single submitter
- TUBB1 p.Gln334Lys Uncertain significance Single submitter
- TUBB1 p.Glu114Lys Conflicting Single submitter
- TUBB1 p.Glu376Gly Uncertain significance Single submitter
- TUBB1 p.Gly38Glu Uncertain significance Single submitter
- TUBB1 p.Gly38Val Uncertain significance Single submitter
- TUBB1 p.His396Gln Uncertain significance Single submitter
-
TUBB1 p.Leu130Val
Conflicting
Single submitter
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.Leu253Val Uncertain significance Single submitter
-
TUBB1 p.Leu284Phe
Uncertain significance
Single submitter
macrothrombocytopenia, isolated, 1, autosomal dominant
- TUBB1 p.Lys174Arg Uncertain significance Single submitter
- TUBB1 p.Met152Thr Uncertain significance Single submitter
- TUBB1 p.Met363Thr Uncertain significance Single submitter
- TUBB1 p.Met73Thr Uncertain significance Single submitter
- TUBB1 p.Pro357Ser Uncertain significance Single submitter
- TUBB1 p.Ser124Arg Uncertain significance Single submitter
- TUBB1 p.Ser40Leu Uncertain significance Single submitter
- TUBB1 p.Thr274Ala Uncertain significance Single submitter
- TUBB1 p.Val119Leu Uncertain significance Single submitter
- TUBB1 p.Val286Met Uncertain significance Single submitter
-
TUBB1 p.Arg297His
Uncertain significance
No assertion criteria
macrothrombocytopenia, isolated, 1, autosomal dominant
All TUBB1 variants
Pathogenic 3
- p.Gly269Asp Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Tyr208Ter Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- p.Tyr106Ter No assertion criteria congenital hypothyroidism
Pathogenic/Likely pathogenic 2
- p.Arg318Trp Multiple submitters TUBB1-related disorder
- p.Phe260Ser Multiple submitters macrothrombocytopenia, isolated, 1, autosomal dominant
Likely pathogenic 12
- c.166+1G>C Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant
- c.57+1G>A Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Cys315Ter Single submitter thrombocytopenia
- p.Gln43fs Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Glu194Ter Single submitter
- p.Glu27Ter Single submitter
- p.Phe266del Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Trp21Ter Single submitter
- p.Trp397_Tyr398insTer Single submitter Macrothrombocytopenia
- p.Asn99Lys No assertion criteria Macrothrombocytopenia
- p.Phe242Leu No assertion criteria macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Ser420delinsGluTyrHisVal No assertion criteria TUBB1-related disorder
Conflicting classifications of pathogenicity 25
- c.166+14G>C Single submitter
- c.167-7T>C Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Arg213His Single submitter ⚠
- p.Arg251His Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Arg282Ter Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Arg359Trp Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Arg77Gln Single submitter ⚠
- p.Arg77Ter Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Asn348del Single submitter
- p.Asp249His Single submitter TUBB1-related disorder ⚠
- p.Cys12fs Single submitter TUBB1-related disorder
- p.Gln134Ter Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Gln280Ter Single submitter
- p.Gln423Ter Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Glu114Lys Single submitter ⚠
- p.Glu441Ala Single submitter ⚠
- p.Gly109Glu Single submitter thrombocytopenia ⚠
- p.Gly146Arg Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.His6Arg Single submitter ⚠
- p.Ile193Thr Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Leu130Val Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Leu361fs Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Thr439Met Single submitter Inborn genetic diseases ⚠
- p.Val136Ile Single submitter ⚠
- p.Val5Ile Single submitter thrombocytopenia ⚠
Benign 6
- p.His28= Multiple submitters
- p.Val349Ile Multiple submitters
- c.167-213_167-212insAA Single submitter
- c.277+10del Single submitter
- c.58-255A>G Single submitter
- p.Thr237= Single submitter
Benign/Likely benign 17
- p.Arg306Cys Multiple submitters ⚠
- p.Arg307Cys Multiple submitters
- p.Arg307His Multiple submitters macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Arg37= Multiple submitters
- p.Arg62= Multiple submitters
- p.Asp435= Multiple submitters
- p.Gln276Arg Multiple submitters macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Gln43His Multiple submitters ⚠
- p.Gln43Pro Multiple submitters ⚠
- p.Gly132= Multiple submitters
- p.Gly38Arg Multiple submitters ⚠
- p.His122= Multiple submitters
- p.Pro357= Multiple submitters
- p.Pro87= Multiple submitters
- p.Ser145= Multiple submitters
- p.Thr178= Multiple submitters
- p.Thr274Met Multiple submitters ⚠
Likely benign 71
- c.277+20T>C Multiple submitters
- c.57+10G>A Multiple submitters
- p.Ala254= Multiple submitters
- p.Ala302= Multiple submitters
- p.Arg307= Multiple submitters
- p.Asn406= Multiple submitters
- p.Asp448Asn Multiple submitters
- p.Glu440= Multiple submitters
- p.Gly140= Multiple submitters
- p.Ser285= Multiple submitters
- p.Thr107= Multiple submitters
- p.Thr218= Multiple submitters
- p.Thr439= Multiple submitters
- c.166+10G>T Single submitter
- c.166+11C>T Single submitter
- c.166+13G>A Single submitter
- c.166+16C>A Single submitter
- c.277+15A>C Single submitter
- c.278-4A>G Single submitter
- c.278-8G>C Single submitter
- c.57+10G>C Single submitter
- c.57+17T>A Single submitter
- c.57+19C>G Single submitter
- c.57+9T>C Single submitter
- c.58-13C>T Single submitter
- p.Ala185= Single submitter
- p.Ala275= Single submitter
- p.Ala287= Single submitter
- p.Ala314= Single submitter
- p.Ala430= Single submitter
- p.Arg213= Single submitter
- p.Arg336= Single submitter
- p.Asn115= Single submitter
- p.Asn348= Single submitter
- p.Asn99= Single submitter
- p.Asp448= Single submitter
- p.Asp88= Single submitter
- p.Cys354= Single submitter
- p.Gln280= Single submitter
- p.Gln292= Single submitter
- p.Glu343= Single submitter
- p.Gly141= Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Gly223= Single submitter
- p.Gly223Arg Single submitter
- p.Gly269= Single submitter
- p.Gly82= Single submitter
- p.His190= Single submitter
- p.Ile113= Single submitter
- p.Ile135= Single submitter
- p.Ile16= Single submitter
- p.Ile30= Single submitter
- p.Leu207= Single submitter
- p.Leu228= Single submitter
- p.Leu246= Single submitter
- p.Lys390= Single submitter
- p.Phe266= Single submitter
- p.Phe394= Single submitter
- p.Pro160= Single submitter
- p.Ser168= Single submitter
- p.Ser234= Single submitter
- p.Ser239= Single submitter
- p.Ser332= Single submitter
- p.Ser35= Single submitter
- p.Ser40= Single submitter
- p.Thr274= Single submitter
- p.Thr299= Single submitter
- p.Val179= Single submitter
- p.Val180= Single submitter
- p.Val381= Single submitter
- p.Val49Met Single submitter
- p.Val91= Single submitter
Uncertain significance 210
- p.Ala185Val Multiple submitters Macrothrombocytopenia ⚠
- p.Arg162Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg162Trp Multiple submitters ⚠
- p.Arg213Cys Multiple submitters macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Arg241Trp Multiple submitters macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Arg262Cys Multiple submitters ⚠
- p.Arg282Gln Multiple submitters ⚠
- p.Arg306His Multiple submitters ⚠
- p.Arg318Gln Multiple submitters ⚠
- p.Arg391fs Multiple submitters
- p.Arg57Lys Multiple submitters macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Asp197Glu Multiple submitters TUBB1-related disorder ⚠
- p.Asp295Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp31Gly Multiple submitters ⚠
- p.Asp427Asn Multiple submitters ⚠
- p.Glu111Lys Multiple submitters ⚠
- p.Glu27Leu Multiple submitters
- p.Glu53Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly17Arg Multiple submitters TUBB1-related disorder ⚠
- p.Ile189fs Multiple submitters macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Ile24Thr Multiple submitters ⚠
- p.Ile30Val Multiple submitters ⚠
- p.Ile7Val Multiple submitters ⚠
- p.Leu284Pro Multiple submitters Inborn genetic diseases ⚠
- p.Lys174Gln Multiple submitters macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Lys390Ile Multiple submitters Inborn genetic diseases
- p.Met23Thr Multiple submitters thrombocytopenia ⚠
- p.Met257Val Multiple submitters macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Met388Thr Multiple submitters ⚠
- p.Pro160Leu Multiple submitters congenital hypothyroidism ⚠
- p.Pro243Leu Multiple submitters ⚠
- p.Pro346Ser Multiple submitters macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Ser322Phe Multiple submitters macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Thr107Met Multiple submitters macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Thr107Pro Multiple submitters macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Val333Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val333Met Multiple submitters macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- c.166+2T>C Single submitter
- c.166+4G>C Single submitter
- c.57+1G>T Single submitter
- c.58-2A>G Single submitter
- c.-88G>C Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Ala102Val Single submitter thrombocytopenia ⚠
- p.Ala198Thr Single submitter ⚠
- p.Ala206Val Single submitter ⚠
- p.Ala248Thr Single submitter ⚠
- p.Ala254Val Single submitter ⚠
- p.Ala275Asp Single submitter ⚠
- p.Ala287Thr Single submitter ⚠
- p.Ala287Val Single submitter ⚠
- p.Ala302Val Single submitter ⚠
- p.Ala364Thr Single submitter ⚠
- p.Ala365Val Single submitter ⚠
- p.Ala83Thr Single submitter ⚠
- p.Ala97fs Single submitter
- p.Ala97Thr Single submitter ⚠
- p.Arg241Gln Single submitter ⚠
- p.Arg282Pro Single submitter ⚠
- p.Arg2Cys Single submitter thrombocytopenia ⚠
- p.Arg2Gly Single submitter ⚠
- p.Arg2Pro Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Arg309His Single submitter ⚠
- p.Arg336Ser Single submitter
- p.Arg359Gln Single submitter ⚠
- p.Arg37Cys Single submitter ⚠
- p.Arg37His Single submitter ⚠
- p.Arg46Thr Single submitter Inborn genetic diseases ⚠
- p.Arg62Gln Single submitter ⚠
- p.Arg62Ter Single submitter
- p.Arg77Pro Single submitter ⚠
- p.Asn14Lys Single submitter ⚠
- p.Asn184Asp Single submitter ⚠
- p.Asn204Ser Single submitter ⚠
- p.Asn256Asp Single submitter Macrothrombocytopenia ⚠
- p.Asn348Lys Single submitter ⚠
- p.Asn406His Single submitter ⚠
- p.Asn414del Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant
- p.Asn94Thr Single submitter ⚠
- p.Asp161Glu Single submitter Macrothrombocytopenia ⚠
- p.Asp224Glu Single submitter
- p.Asp224Val Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Asp304Asn Single submitter Inborn genetic diseases ⚠
- p.Asp31Asn Single submitter ⚠
- p.Asp355Asn Single submitter ⚠
- p.Asp355Glu Single submitter ⚠
- p.Asp36Asn Single submitter ⚠
- p.Asp36His Single submitter Inborn genetic diseases ⚠
- p.Asp88Asn Single submitter ⚠
- p.Cys129Tyr Single submitter ⚠
- p.Cys12Ser Single submitter ⚠
- p.Cys201Arg Single submitter ⚠
- p.Gln11Pro Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Gln131Arg Single submitter ⚠
- p.Gln334Lys Single submitter ⚠
- p.Gln424Arg Single submitter ⚠
- p.Glu111fs Single submitter
- p.Glu158Ala Single submitter ⚠
- p.Glu194Asp Single submitter ⚠
- p.Glu22Lys Single submitter
- p.Glu288Lys Single submitter thrombocytopenia ⚠
- p.Glu376Gly Single submitter ⚠
- p.Glu383Gln Single submitter Inborn genetic diseases ⚠
- p.Glu401Lys Single submitter ⚠
- p.Glu401Val Single submitter ⚠
- p.Glu407Lys Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Glu421Lys Single submitter ⚠
- p.Glu69Asp Single submitter Inborn genetic diseases ⚠
- p.Gly10Arg Single submitter thrombocytopenia ⚠
- p.Gly132Arg Single submitter ⚠
- p.Gly132fs Single submitter
- p.Gly141Ala Single submitter ⚠
- p.Gly146Ala Single submitter ⚠
- p.Gly17Glu Single submitter ⚠
- p.Gly235fs Single submitter
- p.Gly235Ser Single submitter ⚠
- p.Gly244Val Single submitter Inborn genetic diseases ⚠
- p.Gly29Glu Single submitter
- p.Gly319fs Single submitter
- p.Gly38Glu Single submitter ⚠
- p.Gly38Val Single submitter ⚠
- p.Gly402Ala Single submitter Inborn genetic diseases ⚠
- p.Gly450Arg Single submitter Inborn genetic diseases ⚠
- p.Gly56Ser Single submitter ⚠
- p.Gly93Asp Single submitter ⚠
- p.His122Tyr Single submitter ⚠
- p.His264Arg Single submitter ⚠
- p.His264Leu Single submitter Inborn genetic diseases ⚠
- p.His264Tyr Single submitter ⚠
- p.His396Gln Single submitter ⚠
- p.His92Pro Single submitter
- p.Ile202Ser Single submitter ⚠
- p.Ile30Thr Single submitter Inborn genetic diseases ⚠
- p.Ile345Phe Single submitter ⚠
- p.Leu150Val Single submitter
- p.Leu250Arg Single submitter ⚠
- p.Leu253Val Single submitter ⚠
- p.Leu284Phe Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Leu289Pro Single submitter ⚠
- p.Leu305His Single submitter ⚠
- p.Leu331Phe Single submitter ⚠
- p.Leu44fs Single submitter
- p.Leu81fs Single submitter
- p.Lys174Arg Single submitter ⚠
- p.Lys216Ter Single submitter
- p.Lys252Glu Single submitter ⚠
- p.Lys390Asn Single submitter ⚠
- p.Lys58Arg Single submitter ⚠
- p.Met147Thr Single submitter ⚠
- p.Met152Thr Single submitter ⚠
- p.Met170Leu Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met23Arg Single submitter ⚠
- p.Met257Thr Single submitter ⚠
- p.Met300del Single submitter
- p.Met363Ile Single submitter ⚠
- p.Met363Thr Single submitter ⚠
- p.Met73Ile Single submitter
- p.Met73Thr Single submitter ⚠
- p.Phe260Val Single submitter ⚠
- p.Phe266Leu Single submitter ⚠
- p.Phe341Ser Single submitter ⚠
- p.Phe378Ser Single submitter ⚠
- p.Phe408Ile Single submitter ⚠
- p.Pro182Ser Single submitter ⚠
- p.Pro220Ser Single submitter ⚠
- p.Pro357Leu Single submitter ⚠
- p.Pro357Ser Single submitter ⚠
- p.Pro358Ser Single submitter ⚠
- p.Pro87Ser Single submitter ⚠
- p.Ser124Arg Single submitter ⚠
- p.Ser124Asn Single submitter ⚠
- p.Ser138Phe Single submitter ⚠
- p.Ser40Leu Single submitter ⚠
- p.Ter452Gln Single submitter
- p.Thr218Met Single submitter ⚠
- p.Thr221Ile Single submitter
- p.Thr274Ala Single submitter ⚠
- p.Thr312Arg Single submitter macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Thr323Ile Single submitter
- p.Thr372Arg Single submitter ⚠
- p.Thr372Lys Single submitter ⚠
- p.Thr372Met Single submitter ⚠
- p.Tyr208Cys Single submitter ⚠
- p.Tyr398Asn Single submitter ⚠
- p.Tyr51Cys Single submitter ⚠
- p.Tyr51His Single submitter ⚠
- p.Tyr51Phe Single submitter ⚠
- p.Tyr55= Single submitter
- p.Tyr55Ter Single submitter
- p.Tyr59Ter Single submitter
- p.Val119Ala Single submitter ⚠
- p.Val119Leu Single submitter ⚠
- p.Val169Ile Single submitter ⚠
- p.Val229Met Single submitter Inborn genetic diseases ⚠
- p.Val255Met Single submitter ⚠
- p.Val258Ala Single submitter thrombocytopenia ⚠
- p.Val286Met Single submitter ⚠
- p.Val326Leu Single submitter ⚠
- p.Val342Glu Single submitter Inborn genetic diseases ⚠
- p.Val342Gly Single submitter ⚠
- p.Val351Leu Single submitter
- p.Val395Ala Single submitter ⚠
- p.Val438Ile Single submitter Inborn genetic diseases ⚠
- p.Arg297His No assertion criteria macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Asn347Lys No assertion criteria macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Asn52Ile No assertion criteria ⚠
- p.Cys354Arg No assertion criteria macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Gly13Ser No assertion criteria macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Gly141Arg No assertion criteria macrothrombocytopenia, isolated, 1, autosomal dominant ⚠
- p.Ser400Asn No assertion criteria macrothrombocytopenia, isolated, 1, autosomal dominant ⚠