Sugi Variant

Sugi Variant/SMAD3

SMAD3 — 1188 ClinVar variants

All ClinVar germline SMAD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 455 flagged for review →

88 Pathogenic · 30 Pathogenic/Likely pathogenic · 67 Likely pathogenic · 80 Conflicting · 39 Benign · 16 Benign/Likely benign · 339 Likely benign · 529 Uncertain significance

Full SMAD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 455

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 42

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

Predicted LoF vs a conflicting call 6

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 353

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 353

Predictors split 54

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

All SMAD3 variants

Pathogenic 88

  • c.871+1G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg368Ter Multiple submitters SMAD3-related disorder
  • p.Asn165Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn218fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys121Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys320Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu162fs Multiple submitters SMAD3-related disorder
  • p.Glu28Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu52Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly245Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His143fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro152fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Trp326Ter Multiple submitters SMAD3-related disorder
  • p.Trp92Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Trp94Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val331fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1010-2A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1154+1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.207-10_280delinsA Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.207-1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.207-1G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala250fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg142fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg268Pro Single submitter
  • p.Arg292fs Single submitter aneurysm-osteoarthritis syndrome
  • p.Arg295fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg385fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg90dup Single submitter aneurysm-osteoarthritis syndrome
  • p.Asn24fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn344fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn345fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp262fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp262Val Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys31fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys31Ter Single submitter aneurysm-osteoarthritis syndrome
  • p.Cys320fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln128Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln173fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln173Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln26fs Single submitter aneurysm-osteoarthritis syndrome
  • p.Gln322Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln358Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln47fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln47Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu246fs Single submitter aneurysm-osteoarthritis syndrome
  • p.Glu267_Arg268delinsAspCys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu284fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu302fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu347Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly183fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly291Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly337_Cys338insTer Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly337fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly337Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His249fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile235fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile290fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu83fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys41fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro141fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro180fs Single submitter
  • p.Pro209fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro223fs Single submitter aneurysm-osteoarthritis syndrome
  • p.Pro263Ala Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro393fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser186fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser37fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser391fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser416fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser423fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser425Cys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr330fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr388fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Trp232Ter Single submitter
  • p.Trp326fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Trp406fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Trp406Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Trp92Cys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr127Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr184Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr238Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr297Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr88Ter Single submitter
  • p.Val257fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val77fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala105fs No assertion criteria aneurysm-osteoarthritis syndrome
  • p.Glu361Ter No assertion criteria aneurysm-osteoarthritis syndrome
  • p.Phe248fs No assertion criteria aneurysm-osteoarthritis syndrome

Pathogenic/Likely pathogenic 30

  • c.1010-1G>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.401-6G>A Multiple submitters SMAD3-related disorder
  • p.Ala112Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg129fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg268Cys Multiple submitters SMAD3-related disorder
  • p.Arg268His Multiple submitters Thoracic aortic aneurysm and aortic dissection
  • p.Arg279Lys Multiple submitters SMAD3-related disorder
  • p.Arg287Gln Multiple submitters connective tissue disorder
  • p.Arg287Trp Multiple submitters SMAD3-related disorder
  • p.Arg93Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln252Ter Multiple submitters Familial aortopathy
  • p.Gln316Ter Multiple submitters Loeys-Dietz syndrome
  • p.Glu149fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu239Lys Multiple submitters SMAD3-related disorder
  • p.Gly17_Trp18insTer Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly245Arg Multiple submitters SMAD3-related disorder
  • p.Gly291fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly381Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys116Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys81fs Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Phe314fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser266Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser416Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr367fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Trp380Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Trp92_Trp94delinsSer Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr226Ser Multiple submitters SMAD3-related disorder
  • p.Val122Met Multiple submitters SMAD3-related disorder
  • p.Val363fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val389fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection

Likely pathogenic 67

  • c.1009+1G>A Multiple submitters Thoracic aortic aneurysm or dissection
  • c.1009+2T>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.206+1G>C Multiple submitters Loeys-Dietz syndrome
  • c.532+1G>C Multiple submitters Loeys-Dietz syndrome
  • c.658+1G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp258His Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu145fs Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Lys117del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro263Leu Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Tyr125Cys Multiple submitters SMAD3-related disorder
  • p.Val331Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1155-1G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.400+1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.400+1G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.401-6_410del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.608-4_611del Single submitter aneurysm-osteoarthritis syndrome
  • c.(658+1_659-1 Single submitter Cardiovascular phenotype
  • c.659-2A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.871+1G>T Single submitter
  • c.872-1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.872-2_881del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.872-2A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala112Leu Single submitter aneurysm-osteoarthritis syndrome
  • p.Arg243Pro Single submitter aneurysm-osteoarthritis syndrome
  • p.Arg268Leu Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg385Thr Single submitter Cardiovascular phenotype
  • p.Arg386Thr Single submitter aneurysm-osteoarthritis syndrome
  • p.Arg74Leu Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn165fs Single submitter SMAD3-related disorder
  • p.Asn217Ter Single submitter SMAD3-related disorder
  • p.Asp201fs Single submitter Loeys-Dietz syndrome
  • p.Asp258fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp262Gly Single submitter
  • p.Cys270fs Single submitter aneurysm-osteoarthritis syndrome
  • p.Cys394fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln26Ter Single submitter
  • p.Gln365Leu Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Gln76His Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu102fs Single submitter aneurysm-osteoarthritis syndrome
  • p.Glu102Ter Single submitter aneurysm-osteoarthritis syndrome
  • p.Glu239Gly Single submitter SMAD3-related disorder
  • p.Glu284Gly Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu306Ter Single submitter aneurysm-osteoarthritis syndrome
  • p.Glu32Ter Single submitter Isolated thoracic aortic aneurysm
  • p.Gly245Trp Single submitter Thoracic aortic aneurysm or dissection
  • p.His198fs Single submitter Ehlers-Danlos syndrome
  • p.His216fs Single submitter
  • p.Ile290Phe Single submitter SMAD3-related disorder
  • p.Ile67Ser Single submitter aneurysm-osteoarthritis syndrome
  • p.Leu274Pro Single submitter
  • p.Lys36Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Met255fs Single submitter
  • p.Phe260Leu Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro182fs Single submitter SMAD3-related disorder
  • p.Ser275fs Single submitter aneurysm-osteoarthritis syndrome
  • p.Ser423Ile Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser423Thr Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Ser425fs Single submitter aneurysm-osteoarthritis syndrome
  • p.Thr144fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr261Ile Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr226Asn Single submitter SMAD3-related disorder
  • p.Val283Glu Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val315fs Single submitter SMAD3-related disorder
  • p.Val356fs Single submitter aneurysm-osteoarthritis syndrome
  • p.Val410fs Single submitter
  • p.Gln23Ter No assertion criteria aneurysm-osteoarthritis syndrome
  • p.Ser264fs No assertion criteria aneurysm-osteoarthritis syndrome

Conflicting classifications of pathogenicity 80

  • c.1009+5A>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1009+6C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1010-10T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.207-10G>A Single submitter connective tissue disorder
  • c.401-6G>C Single submitter aneurysm-osteoarthritis syndrome
  • c.401-7C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.532+2T>C Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.533-10T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.533-13_533-10del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.533-1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.533-2A>G Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.533-3C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.607+1G>T Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.607+4A>C Single submitter aneurysm-osteoarthritis syndrome
  • c.607+9T>A Single submitter connective tissue disorder
  • c.659-12del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.871+2T>C Single submitter Loeys-Dietz syndrome ⚠
  • c.*2547C>T Single submitter aneurysm-osteoarthritis syndrome
  • c.*6del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala168Thr Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Arg243Cys Single submitter Ehlers-Danlos syndrome ⚠
  • p.Arg243His Single submitter Familial aortopathy ⚠
  • p.Arg243Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg295= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg323His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg373Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg373His Single submitter SMAD3-related disorder ⚠
  • p.Arg385Gly Single submitter Cardiovascular phenotype ⚠
  • p.Arg74Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg74Trp Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Arg90Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg90His Single submitter Ehlers-Danlos syndrome ⚠
  • p.Arg93Gln Single submitter idiopathic spontaneous coronary artery dissection ⚠
  • p.Asn114Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn357Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp408His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys121= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys394Arg Single submitter SMAD3-related disorder ⚠
  • p.Gln222Arg Single submitter aneurysm-osteoarthritis syndrome
  • p.Glu102Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu361Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu52Gly Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Gly169Asp Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly189= Single submitter Ehlers-Danlos syndrome
  • p.Gly259= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly272Arg Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Gly291Val Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Gly293= Single submitter aneurysm-osteoarthritis syndrome
  • p.Gly379= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly415Arg Single submitter Cardiovascular phenotype ⚠
  • p.His101= Single submitter Ehlers-Danlos syndrome
  • p.His327Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile396Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile396Thr Single submitter SMAD3-related disorder ⚠
  • p.Ile396Val Single submitter Ehlers-Danlos syndrome ⚠
  • p.Leu108Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu219Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu404fs Single submitter SMAD3-related disorder ⚠
  • p.Lys333= Single submitter aneurysm-osteoarthritis syndrome
  • p.Met212Ile Single submitter Loeys-Dietz syndrome ⚠
  • p.Pro124Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro205Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro211= Single submitter aneurysm-osteoarthritis syndrome
  • p.Pro263Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro263Ser Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Pro393Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro417Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser266= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser355= Single submitter aneurysm-osteoarthritis syndrome
  • p.Ser37_Lys40del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser37_Val39delinsIle Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser423Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser70Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Trp94Leu Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Tyr364= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr364Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val244Ile Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Val377Ile Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Val60Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val60Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠

Benign 39

Benign/Likely benign 16

  • c.1009+7G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.206+11G>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.206+21dup Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.207-11C>T Multiple submitters aneurysm-osteoarthritis syndrome
  • c.207-13C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.207-26779C>T Multiple submitters aneurysm-osteoarthritis syndrome
  • c.533-589G>A Multiple submitters
  • c.608-15T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu22= Multiple submitters Ehlers-Danlos syndrome
  • p.Ile170Val Multiple submitters Ehlers-Danlos syndrome
  • p.Ile290= Multiple submitters Ehlers-Danlos syndrome
  • p.Leu153= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro161= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro229= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro328= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr330= Multiple submitters aneurysm-osteoarthritis syndrome

Likely benign 339

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

  • c.1009+11C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1155-109C>T Multiple submitters
  • c.1155-11A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1155-160C>T Multiple submitters
  • c.206+15G>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.206+74G>A Multiple submitters
  • c.206+8C>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.207-26869C>A Multiple submitters
  • c.207-4G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.401-10C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.401-11C>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.532+8C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.532+9G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.533-5C>T Multiple submitters aneurysm-osteoarthritis syndrome
  • c.607+166G>A Multiple submitters
  • c.607+7C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.608-4G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.608-5C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.608-7C>T Multiple submitters aneurysm-osteoarthritis syndrome
  • c.608-7del Multiple submitters aneurysm-osteoarthritis syndrome
  • c.658+15G>C Multiple submitters aneurysm-osteoarthritis syndrome
  • c.658+164C>T Multiple submitters
  • c.658+58C>T Multiple submitters
  • c.872-12G>C Multiple submitters aneurysm-osteoarthritis syndrome
  • c.872-15C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.872-19C>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.872-4G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.872-94C>T Multiple submitters
  • c.872-9T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.*798G>A Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Ala148= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala215= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala353= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala382= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Arg368= Multiple submitters Ehlers-Danlos syndrome
  • p.Arg74= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn114= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn165= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn197= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Asn24= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn241= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn276= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn339= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Asn59= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Asp118= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp154= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp201= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp49= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys227= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln222= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln23= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln252= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln354= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln76= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu178= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu246= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu267= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu27= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Glu306= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly17= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly21= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly381= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly402= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly415= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His216= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.His249= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.His98= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile160= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile170= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile299= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Ile334= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile55= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile65= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Ile87= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Leu15= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu16= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu273= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu274= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu38= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu42= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu83= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu91= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys20= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys29= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys41= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Met106Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe111= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Phe150= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe166= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Phe248= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe269= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Phe304= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe348= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Phe376= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Pro136= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Pro147= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro167= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Pro172= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Pro253= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro335= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Pro393= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Ser199= Multiple submitters Ehlers-Danlos syndrome
  • p.Ser236= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser254= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser311= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser375= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser70= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Thr144= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr179= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr256= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr261= Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Thr45= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr127= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr238= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val138= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val224= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val244= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val331= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val39= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val86= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1009+12G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1009+13C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1009+159T>C Single submitter
  • c.1009+15C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1009+18G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1009+314C>T Single submitter
  • c.1009+9G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1010-12T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1010-16T>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1154+11G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1154+11G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1154+23A>C Single submitter
  • c.1154+7T>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1154+9T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1155-13C>T Single submitter aneurysm-osteoarthritis syndrome
  • c.1155-18T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1155-20C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1155-4A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1155-6T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1155-7C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.206+10C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.206+14C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.206+17G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.206+184A>G Single submitter
  • c.206+19G>C Single submitter
  • c.206+19G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.206+20_206+23del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.206+20G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.206+32531G>A Single submitter
  • c.206+7del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.206+8C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.206+9C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.207-14C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.207-16C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.207-18C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.207-18C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.207-261A>G Single submitter
  • c.207-26784C>T Single submitter
  • c.207-26787C>T Single submitter
  • c.207-26817C>T Single submitter
  • c.207-26879A>C Single submitter
  • c.207-26879A>G Single submitter
  • c.207-39138C>T Single submitter
  • c.207-7C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.207-8C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.207-9T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.400+14C>T Single submitter
  • c.400+17G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.401-13C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.401-17_401-16del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.401-4A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.401-9C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.532+10T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.532+118G>A Single submitter
  • c.532+13G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.532+14C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.532+158C>A Single submitter
  • c.532+15G>A Single submitter
  • c.532+15G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.532+16G>A Single submitter
  • c.532+450del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.532+46G>A Single submitter
  • c.532+8C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.532+9G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.533-11C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.533-18C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.533-20A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.533-289G>A Single submitter
  • c.533-510A>G Single submitter
  • c.533-690G>T Single submitter
  • c.533-8A>T Single submitter aneurysm-osteoarthritis syndrome
  • c.533-9G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.607+11C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.607+16T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.607+34C>A Single submitter
  • c.607+3C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.607+65_607+73del Single submitter
  • c.607+8A>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.608-12C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.608-17C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.608-3C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.658+17G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.658+18C>A Single submitter
  • c.658+20C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.658+99C>T Single submitter
  • c.659-17C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.659-18C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.659-287G>A Single submitter
  • c.659-30A>G Single submitter
  • c.659-6C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.871+10G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.871+12C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.871+14C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.871+14C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.871+18_871+19insGCCCCCCCCCCCCCCCCCCCCCC Single submitter
  • c.871+18_871+19insGGCCCCC Single submitter
  • c.871+18_871+19insGGG Single submitter
  • c.871+18_871+19insGGGCCC Single submitter
  • c.871+18_871+19insGGGGGGGCCCCCCCCCCCCCCCC Single submitter
  • c.871+19C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.871+19C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.871+20C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.871+20C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.871+22_871+23insCCCCCCCCCCCCCCC Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.871+25C>A Single submitter
  • c.871+30del Single submitter
  • c.872-12G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.872-13T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.872-14C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.872-20T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.872-6C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.*1217A>G Single submitter
  • c.*1325T>C Single submitter
  • c.*1880C>T Single submitter
  • c.*2229A>G Single submitter
  • c.*2444A>G Single submitter aneurysm-osteoarthritis syndrome
  • c.*2489C>T Single submitter
  • c.*2995G>A Single submitter aneurysm-osteoarthritis syndrome
  • c.*301C>T Single submitter
  • c.*3126C>T Single submitter
  • c.*3658G>A Single submitter
  • c.*419G>T Single submitter
  • c.*51G>C Single submitter
  • c.*579del Single submitter
  • c.*843G>A Single submitter
  • p.Ala168= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala230= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala250= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala312= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala329= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala34= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala54= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg129= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg243= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg268= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg323= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn217= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn319= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn345= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp188= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp220= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys370= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys64= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln195= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu102= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu107= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu110= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu131= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu145= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu149= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu361= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu383= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly245= Single submitter aneurysm-osteoarthritis syndrome
  • p.Gly25= Single submitter
  • p.Gly272= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly337= Single submitter aneurysm-osteoarthritis syndrome
  • p.Gly46= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly73= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His198= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His399= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His79= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His85= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile342= Single submitter connective tissue disorder
  • p.Ile396= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile67= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu108= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu139= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu221= Single submitter aneurysm-osteoarthritis syndrome
  • p.Leu240= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu285= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu340= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu352= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu398= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu404= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu51= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu75= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu97= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys116= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys19= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys33= Single submitter aneurysm-osteoarthritis syndrome

Uncertain significance 529

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

  • c.1155-5T>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.206+2T>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.206+3G>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.206+4G>T Multiple submitters aneurysm-osteoarthritis syndrome
  • c.207-26797del Multiple submitters aneurysm-osteoarthritis syndrome
  • c.207-3C>A Multiple submitters aneurysm-osteoarthritis syndrome
  • c.400+3A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.400+5G>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.401-7C>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.607+5G>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.-10C>T Multiple submitters Ehlers-Danlos syndrome
  • c.-164A>C Multiple submitters aneurysm-osteoarthritis syndrome
  • c.-1C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.-265T>G Multiple submitters aneurysm-osteoarthritis syndrome
  • c.*4C>T Multiple submitters aneurysm-osteoarthritis syndrome
  • p.Ala112Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala202Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala215Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala215Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala250Thr Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Ala281Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala305Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala312Thr Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Ala34Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala382Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg104Trp Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Arg142Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg14Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg295Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg295Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg323Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg368Gln Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Arg368Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg420Cys Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Arg420His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg69Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg80Gln Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Arg80Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg80Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg90Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg90Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg93Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn114Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn197Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn197Thr Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Asn241His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn24Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn276Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn276Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn280Ser Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Asn59Asp Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Asn61Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp155Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp201Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp201Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp201Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp262Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys109Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys233Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys270Arg Multiple submitters ⚠
  • p.Cys307Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys31Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys64Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys89Tyr Multiple submitters ⚠
  • p.Gln128His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln316Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln58Glu Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Glu119Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu131Gln Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Glu149Lys Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Glu162Lys Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Glu228Lys Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Glu284Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu32Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu361Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu50Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly17Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly203Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly203Ser Multiple submitters ⚠
  • p.Gly25Val Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Gly291Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly300Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly381Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly73Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His126Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His194Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His85Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His98Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile299Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile313Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile65Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu108Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu16Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu296Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu308Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu340Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu351Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu404Ser Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Leu411Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu51Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu71Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu91Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu97Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys19Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys378Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys63Asn Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Met106Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met106Thr Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Met212Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met255Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met369Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met374Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met374Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe248Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe348Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro147Leu Multiple submitters connective tissue disorder ⚠
  • p.Pro152Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro152Leu Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Pro161Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro172Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro177Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro181Ser Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Pro182Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro209Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro211Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro229Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro328Leu Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Pro336Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro393Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro68Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro68Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro95Arg Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Pro95Leu Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Ser192Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser192Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser199Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser208Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser234Phe Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Ser2Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser309Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser311Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser355Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser375Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser391Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser418Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser78Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ter426Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr132Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr164Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr390Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr390Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr392Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr57Arg Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Thr57Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr57Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr62Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr66Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr238del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr384Cys Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Tyr88Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val122Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val12Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val134Ala Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Val294Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val303Asp Multiple submitters aneurysm-osteoarthritis syndrome ⚠
  • p.Val315Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val331Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val363Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val389Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val410= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val410Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val410Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.1009+4A>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1154+3C>A Single submitter aneurysm-osteoarthritis syndrome
  • c.1154+3C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1154+3C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1154+4A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1155-1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1155-2A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.206+4G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.206+4G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.206+5G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.206+6G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.207-26806G>T Single submitter aneurysm-osteoarthritis syndrome
  • c.207-26821_207-26805del Single submitter
  • c.207-26831C>G Single submitter
  • c.207-26834G>A Single submitter
  • c.207-26843C>T Single submitter SMAD3-related disorder
  • c.207-26846A>C Single submitter SMAD3-related disorder
  • c.207-26853C>T Single submitter
  • c.207-6_207-5insA Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.532+3A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.532+5G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.533-585G>A Single submitter
  • c.533-585G>T Single submitter
  • c.607+5del Single submitter
  • c.658+4A>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.658+5G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.871+22_871+23insCCCCCCCCCCCCCCCC Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.871+5G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.872-15C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.872-6_872-5del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.872-7T>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.-139C>G Single submitter aneurysm-osteoarthritis syndrome
  • c.-217C>T Single submitter aneurysm-osteoarthritis syndrome
  • c.-240G>T Single submitter aneurysm-osteoarthritis syndrome
  • c.-244G>A Single submitter aneurysm-osteoarthritis syndrome
  • c.-9T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.*1159A>G Single submitter aneurysm-osteoarthritis syndrome
  • c.*12A>G Single submitter
  • c.*1315C>T Single submitter aneurysm-osteoarthritis syndrome
  • c.*1316G>A Single submitter aneurysm-osteoarthritis syndrome
  • c.*1326A>G Single submitter aneurysm-osteoarthritis syndrome
  • c.*1455G>C Single submitter aneurysm-osteoarthritis syndrome
  • c.*1561A>T Single submitter aneurysm-osteoarthritis syndrome
  • c.*1583T>G Single submitter aneurysm-osteoarthritis syndrome
  • c.*1597G>C Single submitter aneurysm-osteoarthritis syndrome
  • c.*1641T>G Single submitter aneurysm-osteoarthritis syndrome
  • c.*1767G>C Single submitter aneurysm-osteoarthritis syndrome
  • c.*1790G>A Single submitter aneurysm-osteoarthritis syndrome
  • c.*1819C>T Single submitter aneurysm-osteoarthritis syndrome
  • c.*1915G>A Single submitter aneurysm-osteoarthritis syndrome
  • c.*2028T>C Single submitter aneurysm-osteoarthritis syndrome
  • c.*2046T>C Single submitter aneurysm-osteoarthritis syndrome
  • c.*2285G>A Single submitter aneurysm-osteoarthritis syndrome
  • c.*2303G>C Single submitter aneurysm-osteoarthritis syndrome
  • c.*2403C>T Single submitter aneurysm-osteoarthritis syndrome
  • c.*2476A>C Single submitter aneurysm-osteoarthritis syndrome
  • c.*250C>A Single submitter aneurysm-osteoarthritis syndrome
  • c.*2786T>A Single submitter aneurysm-osteoarthritis syndrome
  • c.*304C>T Single submitter aneurysm-osteoarthritis syndrome
  • c.*30C>T Single submitter aneurysm-osteoarthritis syndrome
  • c.*552G>C Single submitter aneurysm-osteoarthritis syndrome
  • c.*552G>T Single submitter aneurysm-osteoarthritis syndrome
  • c.*594C>T Single submitter aneurysm-osteoarthritis syndrome
  • c.*626C>T Single submitter aneurysm-osteoarthritis syndrome
  • c.*789A>G Single submitter aneurysm-osteoarthritis syndrome
  • c.*804C>T Single submitter aneurysm-osteoarthritis syndrome
  • c.*805G>A Single submitter aneurysm-osteoarthritis syndrome
  • c.*925G>A Single submitter aneurysm-osteoarthritis syndrome
  • c.*937T>C Single submitter aneurysm-osteoarthritis syndrome
  • p.Ala105Ile Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala105Phe Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala105Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala105Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala105Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala112Asp Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Ala112Ser Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Ala215Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala312Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala349Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala34Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala350= Single submitter aneurysm-osteoarthritis syndrome
  • p.Ala353Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala353Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala362Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala382Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala54Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala54Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg104_Leu108del Single submitter
  • p.Arg104Gln Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg104Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg129Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg142His Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Arg243Gly Single submitter ⚠
  • p.Arg243Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg268Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg279Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg287Leu Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Arg288_His289insGln Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg292Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg295Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg373Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg373Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg373Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg420Leu Single submitter
  • p.Arg69Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg93Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn217Ser Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Asn218Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn241_Phe248del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn24Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn265Asp Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Asn265Ser Single submitter ⚠
  • p.Asn278Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn280His Single submitter ⚠
  • p.Asn280Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn319Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn319Ser Single submitter ⚠
  • p.Asn344Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn345His Single submitter ⚠
  • p.Asn345Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn357Thr Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Asp118Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp154Asn Single submitter aneurysm-osteoarthritis syndrome ⚠
  • p.Asp220Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp220Glu Single submitter aneurysm-osteoarthritis syndrome
  • p.Asp220His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp258Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp258Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠