Sugi Variant

Sugi Variant/ACTA2

ACTA2 — 698 ClinVar variants

All ClinVar germline ACTA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 288 flagged for review →

14 Pathogenic · 10 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 35 Conflicting · 20 Benign · 13 Benign/Likely benign · 243 Likely benign · 350 Uncertain significance

Full ACTA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 288

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 20

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 220

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 220

Predictors split 46

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

All ACTA2 variants

Pathogenic 14

  • p.Arg149Cys Multiple submitters Cardiovascular phenotype
  • p.Arg179Cys Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Arg179His Multiple submitters multisystemic smooth muscle dysfunction syndrome
  • p.Arg258Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.369+1G>C Single submitter aortic aneurysm, familial thoracic 6
  • c.454+1del Single submitter Descending aortic dissection
  • p.Arg314Gln Single submitter aortic aneurysm, familial thoracic 6
  • p.Asp27Tyr Single submitter Marfan syndrome
  • p.Cys219Arg Single submitter aortic aneurysm, familial thoracic 6
  • p.Met46Ile Single submitter aortic aneurysm, familial thoracic 6
  • p.Val45Leu Single submitter aortic aneurysm, familial thoracic 6
  • p.Arg179Leu No assertion criteria multisystemic smooth muscle dysfunction syndrome
  • p.Arg179Ser No assertion criteria multisystemic smooth muscle dysfunction syndrome
  • p.Met49Val No assertion criteria aortic aneurysm, familial thoracic 6

Pathogenic/Likely pathogenic 10

  • p.Arg118Gln Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Arg149Leu Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Arg198Cys Multiple submitters Thoracic aortic aneurysm or dissection
  • p.Arg198His Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Arg212Gln Multiple submitters ACTA2-related disorder
  • p.Arg258His Multiple submitters Cardiovascular phenotype
  • p.Arg314Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg39Cys Multiple submitters Thoracic aortic aneurysm or dissection
  • p.Arg39Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg39His Multiple submitters Familial aortopathy

Likely pathogenic 13

Conflicting classifications of pathogenicity 35

  • c.130-9C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.258+6G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.259-1G>C Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.455-3del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.808+14G>A Single submitter multisystemic smooth muscle dysfunction syndrome
  • c.991-16del Single submitter aortic aneurysm, familial thoracic 6
  • c.991-4A>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.-23-3831T>C Single submitter aortic aneurysm, familial thoracic 6
  • c.*105G>T Single submitter aortic aneurysm, familial thoracic 6
  • p.Ala133= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala140Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala206Thr Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Arg118Trp Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Arg185Gln Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Arg256Cys Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Arg256His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn117Ser Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Asp27Asn Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Asp82Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu109fs Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu216Asp Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu363= Single submitter aortic aneurysm, familial thoracic 6
  • p.Gly152= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly22Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly270Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly270Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly368Arg Single submitter Cardiovascular phenotype ⚠
  • p.Ile73Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys215= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys240Asn Single submitter Cardiovascular phenotype ⚠
  • p.Met134Thr Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Pro72Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr204Ile Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Tyr135Cys Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Val161Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠

Benign 20

Benign/Likely benign 13

  • c.130-18T>C Multiple submitters aortic aneurysm, familial thoracic 6
  • c.455-18C>T Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Ala140= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Ala232= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Ala312= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn130= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn282= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp26= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln139= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu67= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys20= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Phe202= Multiple submitters connective tissue disorder
  • p.Tyr55= Multiple submitters familial thoracic aortic aneurysm and aortic dissection

Likely benign 243

  • c.129+126A>G Multiple submitters
  • c.129+57A>C Multiple submitters
  • c.130-14T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.259-11C>A Multiple submitters aortic aneurysm, familial thoracic 6
  • c.259-12C>T Multiple submitters aortic aneurysm, familial thoracic 6
  • c.259-15C>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.259-17del Multiple submitters aortic aneurysm, familial thoracic 6
  • c.259-8C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.369+108C>T Multiple submitters
  • c.369+10C>A Multiple submitters aortic aneurysm, familial thoracic 6
  • c.454+15G>A Multiple submitters aortic aneurysm, familial thoracic 6
  • c.454+65G>A Multiple submitters
  • c.455-11T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.455-161C>T Multiple submitters
  • c.617-12T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.617-14T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.808+15C>T Multiple submitters aortic aneurysm, familial thoracic 6
  • c.809-19G>A Multiple submitters aortic aneurysm, familial thoracic 6
  • c.809-4C>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.990+20C>T Multiple submitters aortic aneurysm, familial thoracic 6
  • c.991-6T>C Multiple submitters aortic aneurysm, familial thoracic 6
  • c.991-8A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.-24+173A>G Multiple submitters
  • p.Ala116= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala137= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala21= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala24= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala321= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala349= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Arg212= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp156= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp159= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp224= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Asp288= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp290= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Asp58= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp82= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu101= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu119= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu169= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu197= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu216= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Glu243= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu5= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Gly17= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly170= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Gly38= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly44= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile138= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile153= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Ile252= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile269= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Ile311= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile319= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile36= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Ile78= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu180= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Leu218= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu301= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys193= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys317= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Lys52= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe264= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe377= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro111= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro72= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser234= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr151= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr196= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr204= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Thr262= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr320= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr326= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Thr68= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr135= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr145= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr242= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr339= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Tyr364= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val165= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val300= Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Val341= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val47= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.129+12T>A Single submitter aortic aneurysm, familial thoracic 6
  • c.129+12T>C Single submitter aortic aneurysm, familial thoracic 6
  • c.129+15G>A Single submitter aortic aneurysm, familial thoracic 6
  • c.129+8A>C Single submitter aortic aneurysm, familial thoracic 6
  • c.129+9A>C Single submitter aortic aneurysm, familial thoracic 6
  • c.130-12G>A Single submitter aortic aneurysm, familial thoracic 6
  • c.130-18T>A Single submitter aortic aneurysm, familial thoracic 6
  • c.130-4T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.130-8C>G Single submitter aortic aneurysm, familial thoracic 6
  • c.130-8C>T Single submitter
  • c.258+15C>A Single submitter aortic aneurysm, familial thoracic 6
  • c.258+15C>G Single submitter aortic aneurysm, familial thoracic 6
  • c.258+18C>A Single submitter aortic aneurysm, familial thoracic 6
  • c.258+261dup Single submitter
  • c.259-11C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.259-12C>A Single submitter aortic aneurysm, familial thoracic 6
  • c.259-17G>C Single submitter aortic aneurysm, familial thoracic 6
  • c.259-18T>G Single submitter aortic aneurysm, familial thoracic 6
  • c.259-19C>G Single submitter aortic aneurysm, familial thoracic 6
  • c.259-20T>C Single submitter aortic aneurysm, familial thoracic 6
  • c.259-20T>G Single submitter aortic aneurysm, familial thoracic 6
  • c.259-332C>T Single submitter
  • c.369+11T>C Single submitter aortic aneurysm, familial thoracic 6
  • c.369+13C>A Single submitter aortic aneurysm, familial thoracic 6
  • c.369+13C>T Single submitter aortic aneurysm, familial thoracic 6
  • c.369+19C>A Single submitter aortic aneurysm, familial thoracic 6
  • c.369+276C>T Single submitter
  • c.369+65A>G Single submitter
  • c.369+7A>G Single submitter aortic aneurysm, familial thoracic 6
  • c.370-11T>C Single submitter aortic aneurysm, familial thoracic 6
  • c.370-16T>C Single submitter aortic aneurysm, familial thoracic 6
  • c.370-19del Single submitter connective tissue disorder
  • c.370-4G>A Single submitter aortic aneurysm, familial thoracic 6
  • c.370-4G>C Single submitter aortic aneurysm, familial thoracic 6
  • c.370-4G>T Single submitter aortic aneurysm, familial thoracic 6
  • c.370-9G>T Single submitter aortic aneurysm, familial thoracic 6
  • c.454+14C>A Single submitter aortic aneurysm, familial thoracic 6
  • c.454+14C>T Single submitter aortic aneurysm, familial thoracic 6
  • c.454+17G>T Single submitter aortic aneurysm, familial thoracic 6
  • c.454+18A>G Single submitter aortic aneurysm, familial thoracic 6
  • c.454+8G>A Single submitter aortic aneurysm, familial thoracic 6
  • c.455-154T>C Single submitter
  • c.455-15C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.455-18C>G Single submitter aortic aneurysm, familial thoracic 6
  • c.455-8T>C Single submitter aortic aneurysm, familial thoracic 6
  • c.455-9G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.616+10G>A Single submitter aortic aneurysm, familial thoracic 6
  • c.616+18T>C Single submitter aortic aneurysm, familial thoracic 6
  • c.616+192_616+194del Single submitter
  • c.616+19A>G Single submitter aortic aneurysm, familial thoracic 6
  • c.617-4A>G Single submitter aortic aneurysm, familial thoracic 6
  • c.617-6del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.617-9G>T Single submitter aortic aneurysm, familial thoracic 6
  • c.808+13C>T Single submitter aortic aneurysm, familial thoracic 6
  • c.808+16C>T Single submitter aortic aneurysm, familial thoracic 6
  • c.808+7A>G Single submitter aortic aneurysm, familial thoracic 6
  • c.808+9C>A Single submitter aortic aneurysm, familial thoracic 6
  • c.809-11C>T Single submitter aortic aneurysm, familial thoracic 6
  • c.809-20G>A Single submitter aortic aneurysm, familial thoracic 6
  • c.809-5T>C Single submitter aortic aneurysm, familial thoracic 6
  • c.809-9C>G Single submitter aortic aneurysm, familial thoracic 6
  • c.990+17del Single submitter aortic aneurysm, familial thoracic 6
  • c.990+251A>G Single submitter
  • c.991-11T>C Single submitter aortic aneurysm, familial thoracic 6
  • c.991-16T>C Single submitter aortic aneurysm, familial thoracic 6
  • c.991-16T>G Single submitter aortic aneurysm, familial thoracic 6
  • c.991-17T>G Single submitter aortic aneurysm, familial thoracic 6
  • c.991-20T>A Single submitter aortic aneurysm, familial thoracic 6
  • c.-23-22G>C Single submitter
  • c.-23-308G>A Single submitter
  • c.-23-4057G>C Single submitter
  • c.-23-438C>T Single submitter
  • c.-24+357C>T Single submitter
  • c.-24+409G>A Single submitter
  • p.Ala110= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala146= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala183= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala206= Single submitter aortic aneurysm, familial thoracic 6
  • p.Ala222= Single submitter
  • p.Ala367= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg179= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg256= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg30= Single submitter aortic aneurysm, familial thoracic 6
  • p.Asn113= Single submitter aortic aneurysm, familial thoracic 6
  • p.Asn14= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn164= Single submitter aortic aneurysm, familial thoracic 6
  • p.Asn298= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn299= Single submitter aortic aneurysm, familial thoracic 6
  • p.Asp189= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp246= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp294= Single submitter
  • p.Asp313= Single submitter aortic aneurysm, familial thoracic 6
  • p.Asp365= Single submitter aortic aneurysm, familial thoracic 6
  • p.Asp6= Single submitter
  • p.Glu127= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu239= Single submitter aortic aneurysm, familial thoracic 6
  • p.Glu318= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu366= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu74= Single submitter aortic aneurysm, familial thoracic 6
  • p.Glu95= Single submitter aortic aneurysm, familial thoracic 6
  • p.Gly184= Single submitter aortic aneurysm, familial thoracic 6
  • p.Gly270= Single submitter aortic aneurysm, familial thoracic 6
  • p.Gly310= Single submitter aortic aneurysm, familial thoracic 6
  • p.His175= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His75= Single submitter aortic aneurysm, familial thoracic 6
  • p.Ile177= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile194= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile252= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile269= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile311= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile347= Single submitter aortic aneurysm, familial thoracic 6
  • p.Ile66= Single submitter aortic aneurysm, familial thoracic 6
  • p.Ile77= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu106= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu107= Single submitter aortic aneurysm, familial thoracic 6
  • p.Leu155= Single submitter aortic aneurysm, familial thoracic 6
  • p.Leu195= Single submitter aortic aneurysm, familial thoracic 6
  • p.Leu322= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu348= Single submitter aortic aneurysm, familial thoracic 6
  • p.Leu351= Single submitter
  • p.Leu96= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys115= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys217= Single submitter aortic aneurysm, familial thoracic 6
  • p.Lys338= Single submitter aortic aneurysm, familial thoracic 6
  • p.Lys70= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Phe257= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Phe268= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Phe33= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro104= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro114= Single submitter aortic aneurysm, familial thoracic 6
  • p.Pro174= Single submitter aortic aneurysm, familial thoracic 6
  • p.Pro309= Single submitter aortic aneurysm, familial thoracic 6
  • p.Pro34= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser147= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser236= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser273= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser360= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser54= Single submitter aortic aneurysm, familial thoracic 6
  • p.Ter378= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr108= Single submitter aortic aneurysm, familial thoracic 6
  • p.Thr122= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr128= Single submitter aortic aneurysm, familial thoracic 6
  • p.Thr251= Single submitter aortic aneurysm, familial thoracic 6
  • p.Thr262= Single submitter aortic aneurysm, familial thoracic 6
  • p.Thr279= Single submitter aortic aneurysm, familial thoracic 6
  • p.Thr280= Single submitter aortic aneurysm, familial thoracic 6
  • p.Tyr168= Single submitter aortic aneurysm, familial thoracic 6
  • p.Tyr190= Single submitter
  • p.Tyr200= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr220= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr281= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr296= Single submitter aortic aneurysm, familial thoracic 6
  • p.Val136= Single submitter aortic aneurysm, familial thoracic 6
  • p.Val154= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val161= Single submitter aortic aneurysm, familial thoracic 6
  • p.Val249= Single submitter aortic aneurysm, familial thoracic 6
  • p.Val300= Single submitter aortic aneurysm, familial thoracic 6
  • p.Val32= Single submitter aortic aneurysm, familial thoracic 6
  • p.Cys287= No assertion criteria ACTA2-related disorder
  • p.Ser235= No assertion criteria ACTA2-related disorder

Uncertain significance 350

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

  • c.129+1G>A Multiple submitters aortic aneurysm, familial thoracic 6
  • c.129+4A>G Multiple submitters multisystemic smooth muscle dysfunction syndrome
  • c.129+5G>A Multiple submitters aortic aneurysm, familial thoracic 6
  • c.130-10A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.259-1G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.369+5G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.370-13dup Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.370-14G>A Multiple submitters aortic aneurysm, familial thoracic 6
  • c.454+1G>T Multiple submitters aortic aneurysm, familial thoracic 6
  • c.454+5G>A Multiple submitters aortic aneurysm, familial thoracic 6
  • c.616+5G>C Multiple submitters Cardiovascular phenotype
  • c.616+6G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.-4A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.*6_*38del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala230Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala230Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala233Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala28Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala321Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala321Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala323Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala367Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala60Thr Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Ala99Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg149His Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Arg185Gly Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Arg185Ter Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Arg208Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg208His Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Arg337Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg374Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg374His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg97His Multiple submitters Moyamoya disease 5 ⚠
  • p.Asn130His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn299Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn94Ser Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Asp26Glu Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Asp26His Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Asp313Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp365Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp83Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys219fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys2Ser Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Gln123Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln51Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu169Lys Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu226Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu226Asp Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu255Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu272Asp Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu272Gly Multiple submitters Isolated thoracic aortic aneurysm ⚠
  • p.Glu318Asp Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu363Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu59Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu5Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu5Gln Multiple submitters multisystemic smooth muscle dysfunction syndrome ⚠
  • p.Glu5Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu95Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly152Asp Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Gly160Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly160Val Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Gly253Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly270Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly344Ser Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Gly48Glu Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Gly57Val Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.His75Asn Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Ile214Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile250Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile250Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile289Thr Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Ile291Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile332Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile36Thr Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Ile371Asn Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Ile371Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile77Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu295Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu351fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys52Glu Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Lys86Arg Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Met192Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met1Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Met229Ile Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Met307Val Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Pro104Ser Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Pro166Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro174Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro335= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro335Ala Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Pro335Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser241Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser340fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser370Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ter378Gln Multiple submitters Cardiovascular phenotype
  • p.Thr108Met Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Thr188Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr231Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr262Ala Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Thr306Ala Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Thr320Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr326Asn Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Thr68Ile Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Trp342Ter Multiple submitters aortic aneurysm, familial thoracic 6
  • p.Tyr135His Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Tyr190Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val154Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val165Ile Multiple submitters aortic aneurysm, familial thoracic 6 ⚠
  • p.Val203Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val211Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val47Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val56Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.129+3G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.129+6G>T Single submitter aortic aneurysm, familial thoracic 6
  • c.258+2T>G Single submitter
  • c.258+4T>C Single submitter aortic aneurysm, familial thoracic 6
  • c.258+5G>T Single submitter multisystemic smooth muscle dysfunction syndrome
  • c.259-9A>G Single submitter aortic aneurysm, familial thoracic 6
  • c.369+4_369+7del Single submitter aortic aneurysm, familial thoracic 6
  • c.369+4A>G Single submitter
  • c.454+3A>G Single submitter aortic aneurysm, familial thoracic 6
  • c.455-3C>A Single submitter aortic aneurysm, familial thoracic 6
  • c.455-9G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.616+1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.616+2T>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.808+2T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.808+3A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.808+5G>A Single submitter aortic aneurysm, familial thoracic 6
  • c.809-15G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.990+1G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.990+5T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.991-7C>T Single submitter
  • c.-23-3850C>G Single submitter aortic aneurysm, familial thoracic 6
  • c.-56C>T Single submitter multisystemic smooth muscle dysfunction syndrome
  • c.*104C>G Single submitter aortic aneurysm, familial thoracic 6
  • c.*3C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.*43A>G Single submitter aortic aneurysm, familial thoracic 6
  • c.*4A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.*5C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala110Val Single submitter ⚠
  • p.Ala137Val Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ala140Pro Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ala172Val Single submitter ⚠
  • p.Ala183Gly Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ala21Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala233Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala274Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala28Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala31Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala31Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala323Glu Single submitter ⚠
  • p.Ala60Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala99Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg179delinsLeuAlaCys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg292Ser Single submitter ⚠
  • p.Arg30Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg30Trp Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Arg337His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg374Gly Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Arg97Pro Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Asn113Asp Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Asn113Thr Single submitter Cardiovascular phenotype ⚠
  • p.Asn113Tyr Single submitter ⚠
  • p.Asn14Ser Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Asn298Ile Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Asn94Asp Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Asp156His Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Asp159His Single submitter ⚠
  • p.Asp213Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp224Glu Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Asp224His Single submitter ⚠
  • p.Asp26Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp26Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp290Asn Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Asp294Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp365Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp53Glu Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Asp58Glu Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Asp6Gly Single submitter ⚠
  • p.Cys12Ter Single submitter aortic aneurysm, familial thoracic 6
  • p.Cys12Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys19Ser Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Cys219Ser Single submitter ⚠
  • p.Cys259fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys287Tyr Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Cys376Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys376fs Single submitter aortic aneurysm, familial thoracic 6
  • p.Gln265Arg Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Gln316Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln356Arg Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Gln356Ter Single submitter aortic aneurysm, familial thoracic 6
  • p.Gln362Ter Single submitter aortic aneurysm, familial thoracic 6
  • p.Gln51Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu102Ala Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu102fs Single submitter aortic aneurysm, familial thoracic 6
  • p.Glu119Gln Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu127Gln Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu197Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu197Gln Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu207Gly Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu226Lys Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu243Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu243Lys Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu255Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu261Gly Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu272Gln Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu272Ter Single submitter aortic aneurysm, familial thoracic 6
  • p.Glu318Lys Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu336Gln Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Glu336Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu95Gly Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Gly160Asp Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Gly247Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly253Arg Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Gly253Val Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Gly25Arg Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Gly304Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly304fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly304Ser Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Gly310Asp Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Gly368fs Single submitter Cardiovascular phenotype
  • p.Gly368Trp Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Gly38Ile Single submitter aortic aneurysm, familial thoracic 6
  • p.Gly48Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly48Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly48Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly50Arg Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Gly57Arg Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Gly57Ser Single submitter ⚠
  • p.Gly76Ser Single submitter ⚠
  • p.His175Asp Single submitter ⚠
  • p.His175fs Single submitter aortic aneurysm, familial thoracic 6
  • p.His42Tyr Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.His75Gln Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ile138Val Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ile210Asn Single submitter ⚠
  • p.Ile214Leu Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ile250Thr Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ile276Thr Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ile289Asn Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ile291Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile291Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile311Thr Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ile332Val Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ile359Asn Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ile36Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile66Leu Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ile78del Single submitter
  • p.Leu112fs Single submitter
  • p.Leu155Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu18Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu218Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu218fs Single submitter
  • p.Leu238Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu244Val Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Leu295Ile Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Leu69Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys115Arg Single submitter ⚠
  • p.Lys115Asn Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Lys115Gln Single submitter ⚠
  • p.Lys193Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys20Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys215fs Single submitter aortic aneurysm, familial thoracic 6
  • p.Lys217Glu Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Lys317del Single submitter aortic aneurysm, familial thoracic 6
  • p.Lys328del Single submitter aortic aneurysm, familial thoracic 6
  • p.Lys330Thr Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Lys338Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys70Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys86Asn Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Lys86Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met121Thr Single submitter ⚠
  • p.Met125Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met178Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met192Ile Single submitter Isolated thoracic aortic aneurysm ⚠
  • p.Met1Ile Single submitter aortic aneurysm, familial thoracic 6
  • p.Met271Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met285Ile Single submitter ⚠
  • p.Met307Thr Single submitter ⚠
  • p.Met315Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met327Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met49Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met49Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met84Thr Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Phe225Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe23Ile Single submitter ⚠
  • p.Phe92Leu Single submitter ⚠
  • p.Pro245Ala Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Pro324Ser Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Pro334Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro334Thr Single submitter ⚠
  • p.Pro335Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro34Leu Single submitter ⚠
  • p.Ser237Tyr Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ser273Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser35fs Single submitter aortic aneurysm, familial thoracic 6
  • p.Ser35Pro Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ser35Tyr Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ser370Tyr Single submitter aortic aneurysm, familial thoracic 6 ⚠
  • p.Ser62Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠