Sugi Variant

Sugi Variant/MAT2A

MAT2A — 313 ClinVar variants

All ClinVar germline MAT2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

1 Pathogenic · 2 Conflicting · 12 Benign · 15 Benign/Likely benign · 181 Likely benign · 102 Uncertain significance

Full MAT2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 64

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

Predictors split 23

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

All MAT2A variants

Pathogenic 1

  • p.Glu344Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠

Conflicting classifications of pathogenicity 2

  • c.406-3T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu10Asp Single submitter Cardiovascular phenotype ⚠

Benign 12

Benign/Likely benign 15

  • c.406-19G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.951+12_951+13del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.952-19G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.952-3dup Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.-15C>T Multiple submitters
  • p.Ala40= Multiple submitters Cardiovascular phenotype
  • p.Arg264= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln36= Multiple submitters Cardiovascular phenotype
  • p.His243= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His277= Multiple submitters Cardiovascular phenotype
  • p.Leu167= Multiple submitters Cardiovascular phenotype
  • p.Thr146= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr271= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val106= Multiple submitters Cardiovascular phenotype
  • p.Val108= Multiple submitters familial thoracic aortic aneurysm and aortic dissection

Likely benign 181

  • c.1086-18C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.293-15G>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.768+18C>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.91+17A>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.951+11T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.951+13TA[2] Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.951+14A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.951+16A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.951+7A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.952-20C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.-18C>T Multiple submitters
  • p.Ala109= Multiple submitters Cardiovascular phenotype
  • p.Ala221= Multiple submitters Cardiovascular phenotype
  • p.Ala233= Multiple submitters Cardiovascular phenotype
  • p.Ala233Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala281= Multiple submitters Cardiovascular phenotype
  • p.Ala297= Multiple submitters Cardiovascular phenotype
  • p.Asn105= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln4= Multiple submitters Cardiovascular phenotype
  • p.Glu148= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly16= Multiple submitters Cardiovascular phenotype
  • p.Gly257= Multiple submitters Cardiovascular phenotype
  • p.Gly272= Multiple submitters Cardiovascular phenotype
  • p.Gly280= Multiple submitters Cardiovascular phenotype
  • p.Gly309= Multiple submitters Cardiovascular phenotype
  • p.Ile154= Multiple submitters Cardiovascular phenotype
  • p.Ile205Val Multiple submitters Cardiovascular phenotype
  • p.Ile330= Multiple submitters Cardiovascular phenotype
  • p.Ile370= Multiple submitters Cardiovascular phenotype
  • p.Leu160= Multiple submitters Cardiovascular phenotype
  • p.Leu222= Multiple submitters Cardiovascular phenotype
  • p.Lys159= Multiple submitters Cardiovascular phenotype
  • p.Lys265= Multiple submitters Cardiovascular phenotype
  • p.Lys391= Multiple submitters Cardiovascular phenotype
  • p.Lys81= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe18= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe353= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro327= Multiple submitters Cardiovascular phenotype
  • p.Pro390= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser22= Multiple submitters Cardiovascular phenotype
  • p.Ser24= Multiple submitters Cardiovascular phenotype
  • p.Ser247= Multiple submitters Cardiovascular phenotype
  • p.Ser384= Multiple submitters Cardiovascular phenotype
  • p.Thr153= Multiple submitters Cardiovascular phenotype
  • p.Thr17= Multiple submitters Cardiovascular phenotype
  • p.Tyr335= Multiple submitters Cardiovascular phenotype
  • p.Val155= Multiple submitters Cardiovascular phenotype
  • p.Val230= Multiple submitters Cardiovascular phenotype
  • p.Val25= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val290= Multiple submitters Cardiovascular phenotype
  • p.Val82= Multiple submitters Cardiovascular phenotype
  • p.Val83= Multiple submitters Cardiovascular phenotype
  • c.1085+17C>T Single submitter
  • c.1085+19G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1086-17G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1086-8T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.169+10G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.169+13T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.169+19del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.170-11_170-10del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.170-13C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.170-9T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.292+12T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.292+14A>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.292+17T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.293-13T>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.293-17G>A Single submitter
  • c.293-18_293-16del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.293-47C>T Single submitter
  • c.293-79T>C Single submitter
  • c.405+16G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.406-10_406-8del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.406-10C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.406-18T>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.406-20_406-13del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.406-3dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.406-4_406-3dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.549+13C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.549+19G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.549+19G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.550-12G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.550-17C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.550-19G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.550-4C>T Single submitter Cardiovascular phenotype
  • c.550-7dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.768+14G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.768+18C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.768+7T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.768+8C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.769-13C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.769-19_769-18dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.769-20C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.91+13C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.91+14C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.91+16G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.91+19G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.91+20C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.91+20C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.92-237C>A Single submitter
  • c.92-3del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.92-5T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.92-6T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.92-8T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.92-9C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.951+15T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.951+18A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.951+20C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.951+20C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.952-16A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.952-20C>G Single submitter
  • c.952-20del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.952-21_952-14del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.952-4T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.952-5T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.-132G>A Single submitter
  • c.-22A>G Single submitter
  • c.-35C>G Single submitter
  • c.-35C>T Single submitter
  • c.-7C>T Single submitter
  • p.Ala142= Single submitter Cardiovascular phenotype
  • p.Ala229= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala302= Single submitter Cardiovascular phenotype
  • p.Ala321= Single submitter Cardiovascular phenotype
  • p.Ala75= Single submitter Cardiovascular phenotype
  • p.Ala86Thr Single submitter Cardiovascular phenotype
  • p.Arg168= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg177= Single submitter Cardiovascular phenotype
  • p.Arg219= Single submitter Cardiovascular phenotype
  • p.Arg292= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg312= Single submitter Cardiovascular phenotype
  • p.Arg313= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg343= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg356= Single submitter Cardiovascular phenotype
  • p.Asn2= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp100= Single submitter Cardiovascular phenotype
  • p.Asp129= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp179= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp239= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp354= Single submitter Cardiovascular phenotype
  • p.Asp78= Single submitter Cardiovascular phenotype
  • p.Gln112= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln47= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu147= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu166= Single submitter Cardiovascular phenotype
  • p.Glu70= Single submitter
  • p.Gly140= Single submitter Cardiovascular phenotype
  • p.Gly26= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly273= Single submitter Cardiovascular phenotype
  • p.Gly275= Single submitter Cardiovascular phenotype
  • p.Gly28= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly336= Single submitter Cardiovascular phenotype
  • p.Gly7= Single submitter Cardiovascular phenotype
  • p.His9= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile13= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile266= Single submitter Cardiovascular phenotype
  • p.Ile332= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile37= Single submitter Cardiovascular phenotype
  • p.Ile65= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu173= Single submitter Cardiovascular phenotype
  • p.Leu19= Single submitter Cardiovascular phenotype
  • p.Leu345= Single submitter Cardiovascular phenotype
  • p.Leu346= Single submitter Cardiovascular phenotype
  • p.Lys234= Single submitter Cardiovascular phenotype
  • p.Lys351= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro151= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro386= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser180= Single submitter Cardiovascular phenotype
  • p.Ser283= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser304= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser319= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser73= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser96= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr270= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr337= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr58= Single submitter Cardiovascular phenotype
  • p.Tyr320= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr92= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val231= Single submitter Cardiovascular phenotype
  • p.Val316= Single submitter Cardiovascular phenotype
  • p.Val41= Single submitter Cardiovascular phenotype
  • p.Val59= Single submitter Cardiovascular phenotype

Uncertain significance 102

  • c.292+4T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.549+3A>G Multiple submitters Cardiovascular phenotype
  • c.952-3T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala11Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg177Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg312Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg343Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg356Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn6His Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn6Ile Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln4Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly171Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile13Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile154Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile241Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile330Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu19Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu5Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Lys340Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Lys350Met Multiple submitters Cardiovascular phenotype ⚠
  • p.Lys391Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys53Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro115Thr Multiple submitters Cardiovascular phenotype ⚠
  • c.1086-3C>T Single submitter Cardiovascular phenotype
  • c.169+3A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.405+20G>A Single submitter
  • c.951+4T>C Single submitter Cardiovascular phenotype
  • c.951+5A>G Single submitter Cardiovascular phenotype
  • p.Ala229Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala233Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala40Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala68Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg125Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg192Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg219Gly Single submitter Cardiovascular phenotype ⚠
  • p.Arg373Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg382Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn126Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn6Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn6Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp216Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp220Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp239Glu Single submitter Cardiovascular phenotype ⚠
  • p.Cys149Ser Single submitter Isolated thoracic aortic aneurysm
  • p.Gln183= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln4His Single submitter Cardiovascular phenotype ⚠
  • p.Gln4Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu10Gln Single submitter Cardiovascular phenotype ⚠
  • p.Glu128Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu147Gly Single submitter Cardiovascular phenotype ⚠
  • p.Glu211Lys Single submitter MAT2A-related disorder ⚠
  • p.Gly279Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly381Ser Single submitter Cardiovascular phenotype ⚠
  • p.Gly3Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His9Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile13Met Single submitter Cardiovascular phenotype ⚠
  • p.Ile205Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile252Phe Single submitter Cardiovascular phenotype ⚠
  • p.Ile267Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile322Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile330fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile348Val Single submitter Cardiovascular phenotype ⚠
  • p.Ile370Leu Single submitter Cardiovascular phenotype ⚠
  • p.Ile370Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile65Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile90Val Single submitter Cardiovascular phenotype ⚠
  • p.Leu123Ile Single submitter Cardiovascular phenotype ⚠
  • p.Leu196fs Single submitter Cardiovascular phenotype
  • p.Leu5Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys102Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys163Arg Single submitter Cardiovascular phenotype ⚠
  • p.Lys225Arg Single submitter ⚠
  • p.Lys351Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys391Glu Single submitter Cardiovascular phenotype ⚠
  • p.Lys391Ile Single submitter Cardiovascular phenotype ⚠
  • p.Lys392Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys394Asn Single submitter Cardiovascular phenotype ⚠
  • p.Lys81Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys88Glu Single submitter Cardiovascular phenotype ⚠
  • p.Met189Thr Single submitter Cardiovascular phenotype ⚠
  • p.Phe353Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro386Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser180Cys Single submitter Isolated thoracic aortic aneurysm ⚠
  • p.Ser325Cys Single submitter Cardiovascular phenotype ⚠
  • p.Ser331Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser341Arg Single submitter Cardiovascular phenotype ⚠
  • p.Ser95Pro Single submitter Cardiovascular phenotype ⚠
  • p.Ser96Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr141Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr242His Single submitter Cardiovascular phenotype ⚠
  • p.Tyr287His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr395Asn Single submitter Cardiovascular phenotype ⚠
  • p.Tyr395del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr395His Single submitter Cardiovascular phenotype ⚠
  • p.Val106Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val186Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val213Ile Single submitter ⚠
  • p.Val226Ile Single submitter Cardiovascular phenotype ⚠
  • p.Val314Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val318Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val87Leu Single submitter Cardiovascular phenotype ⚠
  • p.Val87Phe Single submitter Cardiovascular phenotype ⚠