Sugi Variant

Sugi Variant/MYLK

MYLK — 2640 ClinVar variants

All ClinVar germline MYLK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1271 flagged for review →

45 Pathogenic · 2 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 199 Conflicting · 34 Benign · 68 Benign/Likely benign · 828 Likely benign · 1438 Uncertain significance

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

⚑ Evidence disagreements 1271

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 98

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

Predicted LoF vs a conflicting call 15

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 943

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 943

Predictors split 214

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 214

All MYLK variants

Pathogenic 45

  • p.Arg1275Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln1364fs Multiple submitters Familial aortopathy
  • c.3652_3652+1del Single submitter aortic aneurysm, familial thoracic 7
  • c.3985+5G>T Single submitter visceral myopathy 1
  • p.Ala1127fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Ala1251fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Ala1335fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Ala1497fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Arg1204fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Arg1487Ter Single submitter aortic aneurysm, familial thoracic 7
  • p.Arg982fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Asp1372fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Cys1077Ter Single submitter aortic aneurysm, familial thoracic 7
  • p.Cys1524fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Gln1239fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Gln1508Ter Single submitter aortic aneurysm, familial thoracic 7
  • p.Glu1468fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Glu942Ter Single submitter aortic aneurysm, familial thoracic 7
  • p.Gly1252Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1089fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Lys1330fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1474fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Lys1485fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Lys1724fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Lys1733Ter Single submitter aortic aneurysm, familial thoracic 7
  • p.Lys989Ter Single submitter aortic aneurysm, familial thoracic 7
  • p.Pro1025fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Pro1625fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Ser1020Ter Single submitter aortic aneurysm, familial thoracic 7
  • p.Ser1293fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Ser1365fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Ser1472fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Ser343fs Single submitter Familial aortopathy
  • p.Trp1131Ter Single submitter aortic aneurysm, familial thoracic 7
  • p.Trp1352Ter Single submitter aortic aneurysm, familial thoracic 7
  • p.Trp1371Ter Single submitter aortic aneurysm, familial thoracic 7
  • p.Trp1490Ter Single submitter aortic aneurysm, familial thoracic 7
  • p.Tyr1366Ter Single submitter aortic aneurysm, familial thoracic 7
  • p.Val1121fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Val1213fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Val1323fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Val1460fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Val938_Ser939insTer Single submitter aortic aneurysm, familial thoracic 7
  • p.Gln1458Ter No assertion criteria aortic aneurysm, familial thoracic 7
  • p.Glu1282fs No assertion criteria visceral myopathy 1

Pathogenic/Likely pathogenic 2

  • p.Arg1480Ter Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ser1759Pro No assertion criteria aortic aneurysm, familial thoracic 7

Likely pathogenic 26

  • c.2390+1G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.2390+1G>C Single submitter aortic aneurysm, familial thoracic 7
  • c.3448+1G>A Single submitter aortic aneurysm, familial thoracic 7
  • c.3565+1G>C Single submitter aortic aneurysm, familial thoracic 7
  • c.3652+1del Single submitter aortic aneurysm, familial thoracic 7
  • c.3832-2A>G Single submitter aortic aneurysm, familial thoracic 7
  • c.4415+1G>A Single submitter aortic aneurysm, familial thoracic 7
  • c.4619+2T>G Single submitter aortic aneurysm, familial thoracic 7
  • c.4620-2A>G Single submitter aortic aneurysm, familial thoracic 7
  • c.4837+1G>A Single submitter aortic aneurysm, familial thoracic 7
  • c.5115-1_5115del Single submitter aortic aneurysm, familial thoracic 7
  • c.5368+1G>A Single submitter aortic aneurysm, familial thoracic 7
  • c.5369-2A>G Single submitter aortic aneurysm, familial thoracic 7
  • p.Ala1491Ser Single submitter MYLK-related disorder ⚠
  • p.Asp270fs Single submitter
  • p.Asp82fs Single submitter
  • p.Gln1120fs Single submitter
  • p.Gly1607Ser Single submitter aortic aneurysm, familial thoracic 7
  • p.Ile744fs Single submitter aortic aneurysm, familial thoracic 7
  • p.Leu1115fs Single submitter Isolated thoracic aortic aneurysm
  • p.Ser1254Ter Single submitter aortic aneurysm, familial thoracic 7
  • p.Thr731fs Single submitter
  • p.Trp447Ter Single submitter
  • p.Tyr1168Ter Single submitter
  • c.2390+2T>C No assertion criteria familial thoracic aortic aneurysm and aortic dissection
  • c.2736delG No assertion criteria aortic aneurysm, familial thoracic 1

Conflicting classifications of pathogenicity 199

  • c.1517-2A>G Single submitter ⚠
  • c.1651+7T>C Single submitter aortic aneurysm, familial thoracic 7
  • c.2140+6G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.2462+5G>A Single submitter aortic aneurysm, familial thoracic 7
  • c.2463-12C>A Single submitter aortic aneurysm, familial thoracic 7
  • c.3566-2A>G Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • c.3653-10_3653-8del Single submitter aortic aneurysm, familial thoracic 7
  • c.373+6T>A Single submitter aortic aneurysm, familial thoracic 7
  • c.374-9T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.3832-6C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.3832-8G>C Single submitter aortic aneurysm, familial thoracic 7
  • c.4289-2A>C Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • c.4289-3del Single submitter aortic aneurysm, familial thoracic 7
  • c.4289-4C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.4289-5C>A Single submitter aortic aneurysm, familial thoracic 7
  • c.4416-8A>T Single submitter aortic aneurysm, familial thoracic 7
  • c.4620-4G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.4620-5C>T Single submitter connective tissue disorder
  • c.4620-6C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.4838-3C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.5369-10T>G Single submitter aortic aneurysm, familial thoracic 7
  • c.5370_5372delAGA Single submitter aortic aneurysm, familial thoracic 7
  • c.588+10C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.773+10G>A Single submitter aortic aneurysm, familial thoracic 7
  • c.774-15C>G Single submitter aortic aneurysm, familial thoracic 7
  • c.-24C>T Single submitter aortic aneurysm, familial thoracic 7
  • p.Ala1041Thr Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Ala1062Ser Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Ala1062Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1299= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1300= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1300Thr Single submitter connective tissue disorder ⚠
  • p.Ala1615Val Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Ala1826Val Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala350Thr Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Ala492Thr Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Ala524Thr Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Ala596Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala708= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala743Thr Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg115His Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg1204Trp Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg1250His Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Arg1301Cys Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg1301His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1469Lys Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg152His Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg1567Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg169Ter Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg179Ter Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Arg1816His Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Arg206Cys Single submitter MYLK-related disorder
  • p.Arg23Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg378His Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg409Lys Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg40Gln Single submitter connective tissue disorder ⚠
  • p.Arg538Gln Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg538Trp Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Arg544Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg558Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg55Trp Single submitter aortic aneurysm, familial thoracic 7
  • p.Arg728Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg728His Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg86Gln Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg86Trp Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg870Ter Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg876His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg898Gln Single submitter connective tissue disorder ⚠
  • p.Asn311Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn69= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1070Gly Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Asp1124= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1358Glu Single submitter MYLK-related disorder ⚠
  • p.Asp1448Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp717Asn Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Asp717Tyr Single submitter aortic aneurysm, familial thoracic 7
  • p.Asp868= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp913Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp914Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys1305= Single submitter aortic aneurysm, familial thoracic 7
  • p.Cys523= Single submitter aortic aneurysm, familial thoracic 7
  • p.Cys803= Single submitter aortic aneurysm, familial thoracic 7
  • p.Gln133His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln301Ter Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Gln503= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln664Arg Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Gln683= Single submitter aortic aneurysm, familial thoracic 7
  • p.Gln707Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln713Ter Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln881= Single submitter aortic aneurysm, familial thoracic 7
  • p.Glu1217= Single submitter aortic aneurysm, familial thoracic 7
  • p.Glu1290Lys Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu1303Gln Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu1399Lys Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu1434= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu1446Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu158Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu158fs Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu282Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu505Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu769Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu862Gln Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly1112= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1360Asp Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Gly1639Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly303Val Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly360fs Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly407= Single submitter aortic aneurysm, familial thoracic 7
  • p.Gly407Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly459Ser Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly702fs Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly76Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly801= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly84Ser Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly866Ser Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.His601Pro Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His97Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile1368= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile1540= Single submitter aortic aneurysm, familial thoracic 7
  • p.Ile1581= Single submitter connective tissue disorder
  • p.Leu1146= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu1395Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu1654= Single submitter aortic aneurysm, familial thoracic 7
  • p.Leu1719= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu201= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu584= Single submitter aortic aneurysm, familial thoracic 7
  • p.Leu81= Single submitter aortic aneurysm, familial thoracic 7
  • p.Lys1485Asn Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Lys1564Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys281Arg Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Lys783Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met1038Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met1236Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met215Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met405Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro1232Leu Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Pro1431= Single submitter connective tissue disorder
  • p.Pro1431Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro1588Leu Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Pro190= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro190Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro333= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro333Leu Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Pro359Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro404= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro441Ser Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Pro443Thr Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Pro453= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro652Ala Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro825Leu Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Pro973= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro979Leu Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Ser1011Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser1193Arg Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Ser126Gly Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Ser1281= Single submitter MYLK-related disorder
  • p.Ser1768Gly Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Ser239Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser283Leu Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Ser328Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser418Arg Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Ser486Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser911= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser911Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser999Ile Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Ser9Leu Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Thr1132fs Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Thr1262Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr1423Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr1711Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr1901= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr1901Met Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Thr267Asn Single submitter connective tissue disorder ⚠
  • p.Thr331= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr331Lys Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Thr341= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr582Asn Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr751= Single submitter connective tissue disorder
  • p.Trp547Ter Single submitter Familial aortopathy ⚠
  • p.Tyr1575= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr471Ter Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val1008= Single submitter aortic aneurysm, familial thoracic 7
  • p.Val1026Met Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Val1328Met Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Val1522Ala Single submitter MYLK-related disorder
  • p.Val1628Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val207Met Single submitter connective tissue disorder ⚠
  • p.Val228Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val395del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val454Met Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Val509Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val537Ile Single submitter connective tissue disorder ⚠
  • p.Val565Met Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Val600Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val709Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val776Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val800fs Single submitter aortic aneurysm, familial thoracic 7 ⚠
  • p.Val877Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val933= Single submitter aortic aneurysm, familial thoracic 7

Benign 34

  • c.1651+6T>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.1804+8C>T Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome
  • c.3448+15G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.4289-10dup Multiple submitters Cardiovascular phenotype
  • c.-153C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.-72C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.*1809A>G Multiple submitters aortic aneurysm, familial thoracic 7
  • c.*406G>C Multiple submitters aortic aneurysm, familial thoracic 7
  • c.*612C>A Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ala128Val Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1
  • p.Asn1134= Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome
  • p.Asn1614= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1175= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1439= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His1398= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu218= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu496Val Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome
  • p.Pro1025= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Pro147Ser Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome
  • p.Ser137= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr1085Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr1186= Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome
  • p.Thr335= Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome
  • c.1309+26G>A Single submitter
  • c.166-8del Single submitter aortic aneurysm, familial thoracic 7
  • c.2462+12dup Single submitter aortic aneurysm, familial thoracic 7
  • c.3448+3086G>A Single submitter aortic aneurysm, familial thoracic 7
  • c.3703+12C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.3831+18del Single submitter aortic aneurysm, familial thoracic 7
  • c.774-18A>C Single submitter aortic aneurysm, familial thoracic 7
  • c.774-19dup Single submitter aortic aneurysm, familial thoracic 7
  • c.*1538A>G Single submitter aortic aneurysm, familial thoracic 7
  • c.*419C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.1651+23C>G No assertion criteria

Benign/Likely benign 68

  • c.1310-20T>C Multiple submitters aortic aneurysm, familial thoracic 7
  • c.1516+16C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.2140+15C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.2462+20G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.3652+10C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.3652+11G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.373+18C>T Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1
  • c.3832-9C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.422+14G>C Multiple submitters aortic aneurysm, familial thoracic 7
  • c.4289-10_4289-9dup Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.4289-13del Multiple submitters aortic aneurysm, familial thoracic 7
  • c.4289-4C>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.4289-9C>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.4415+9A>G Multiple submitters aortic aneurysm, familial thoracic 7
  • c.4620-12G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.4620-18G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.5238+6G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.5368+13_5368+21del Multiple submitters aortic aneurysm, familial thoracic 7
  • c.5501-20G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.588+13_588+16del Multiple submitters aortic aneurysm, familial thoracic 7
  • c.754+17G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.755-12C>T Multiple submitters connective tissue disorder
  • p.Ala128Thr Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ala701Thr Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ala8= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala886= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala920= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg1250= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg143= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg1450Gln Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1
  • p.Arg1600= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg1707= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg1816= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg506Gly Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg845Cys Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg876= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Asn237= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1329Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp1643= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1722= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp865= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp914Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu1009= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu1066del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu863= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly675Arg Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1
  • p.Gly87Glu Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.His1081Arg Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1
  • p.Leu861Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1693= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe1661= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Pro1588= Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1
  • p.Pro160Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro1838= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro21His Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro336Leu Multiple submitters connective tissue disorder
  • p.Pro443Ser Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ser1373= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser328= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ser438= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Thr1814Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr690= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr711= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr1640= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val1187= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Val261Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val709= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val877= Multiple submitters familial thoracic aortic aneurysm and aortic dissection

Likely benign 828

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

  • c.1309+20G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.1651+14G>A Multiple submitters connective tissue disorder
  • c.1651+17C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.1651+8C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.1805-10T>C Multiple submitters aortic aneurysm, familial thoracic 7
  • c.1943-16CCT[2] Multiple submitters aortic aneurysm, familial thoracic 7
  • c.2140+12C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.2141-19G>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.2391-16C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.2462+19T>C Multiple submitters aortic aneurysm, familial thoracic 7
  • c.2462+7G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.3449-15A>G Multiple submitters aortic aneurysm, familial thoracic 7
  • c.3565+13del Multiple submitters aortic aneurysm, familial thoracic 7
  • c.3653-14C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.3704-14C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.373+19G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.374-20A>G Multiple submitters aortic aneurysm, familial thoracic 7
  • c.374-7C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.3831+10G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.3832-4C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.3985+14C>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.3985+20G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.423-20C>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.423-8C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.4289-4_4289-3insA Multiple submitters aortic aneurysm, familial thoracic 7
  • c.4289-4C>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.4289-6C>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.4289-9C>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.4322-11G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.4416-14C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.4838-7G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.5115-7C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.5238+12G>T Multiple submitters connective tissue disorder
  • c.5368+9_5368+11del Multiple submitters aortic aneurysm, familial thoracic 7
  • c.5369-20TCT[2] Multiple submitters aortic aneurysm, familial thoracic 7
  • c.754+16C>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.773+16G>T Multiple submitters aortic aneurysm, familial thoracic 7
  • c.*197T>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.*945G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ala1000= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ala1176= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1179= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ala1227= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ala128= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1340= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1615= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala164= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ala1692= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ala1728= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1891= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala242= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala32= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ala349= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala508= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala563= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ala566= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala596= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala789= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg1165= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg1301= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg1450Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg187= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg371= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg378Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg385= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg544Gln Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg607= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg705Cys Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg982= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn1016= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn1028= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Asn1040= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn1390= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn1408= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Asn1595= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn198Ser Multiple submitters connective tissue disorder
  • p.Asn213= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn224= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Asn257= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn491= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1070= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Asp1074= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1342= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Asp1552= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1690= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Asp1845= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1862= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1876= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1877= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp227= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp286= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Asp775= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Asp913= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Cys1651= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys1873= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Cys535= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys561= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Cys594= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys695= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Cys742= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Cys828= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys83= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gln116= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gln1523= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gln429= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln571= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gln890= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Glu1436= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu1444= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu1509= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu1548= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Glu1903= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu319= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Glu323= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu370= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Glu829Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu878= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Glu884= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu917= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu942= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gly1306= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1492= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gly1572= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gly1598= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gly1889= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1905= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly197= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly388= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly451= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gly468= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly539= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gly564= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gly58= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gly866= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His1517= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.His1854= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His716= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His788= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile1157= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile1407= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ile1454= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile1534= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ile155= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile1604= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ile1638= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile1647= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile1849= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile250= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile403= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu1214= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Leu1311= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu1603= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu1731= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Leu1818= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu288= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu37= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Leu474= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu589= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Leu613= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu710= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu901= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Lys1042= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1136= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1169= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1401= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1520= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Lys1619= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1813= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Lys1879= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1883= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys321= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Lys442= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe1606= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Phe35= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe413= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Phe777= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Pro1022= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Pro1049= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Pro1212= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro1228= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro1232= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Pro1445= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Pro1780= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro203= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Pro336= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro354= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Pro420= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro575= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro60= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro651= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Pro687= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Pro966= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro973Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro979= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ser1061= Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1
  • p.Ser1289= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ser1356= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ser145= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser1570= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ser1760= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser239= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ser243= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ser283= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser312= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ser482= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ser536= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser595= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser666= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Ser700= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser75= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser9= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Thr1046= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Thr1132= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr1296= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr1387= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Thr15= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr1558= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Thr1597= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr1711= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr232= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr381= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr452= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr599= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr692= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Thr694= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr731= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Thr778= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr879= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr104= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Tyr1464= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr1810= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr1859= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Tyr464= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Tyr556= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr693= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Val123= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Val1323= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Val1327= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Val1447= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val170Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val1899= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Val24= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Val275= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Val445= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Val776= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Val869= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val945= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val951= Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Val956= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1309+12T>C Single submitter aortic aneurysm, familial thoracic 7
  • c.1309+14A>G Single submitter aortic aneurysm, familial thoracic 7
  • c.1310-20T>A Single submitter aortic aneurysm, familial thoracic 7
  • c.1310-5T>C Single submitter aortic aneurysm, familial thoracic 7
  • c.1516+16del Single submitter aortic aneurysm, familial thoracic 7
  • c.1516+19G>A Single submitter aortic aneurysm, familial thoracic 7
  • c.1516+19G>C Single submitter aortic aneurysm, familial thoracic 7
  • c.1516+9A>T Single submitter aortic aneurysm, familial thoracic 7
  • c.1517-12T>G Single submitter aortic aneurysm, familial thoracic 7
  • c.1517-5C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.1517-7C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.1517-7dup Single submitter aortic aneurysm, familial thoracic 7
  • c.165+10G>A Single submitter aortic aneurysm, familial thoracic 7
  • c.165+20G>A Single submitter aortic aneurysm, familial thoracic 7
  • c.1651+17C>G Single submitter aortic aneurysm, familial thoracic 7
  • c.1651+8C>A Single submitter aortic aneurysm, familial thoracic 7
  • c.1652-11T>C Single submitter aortic aneurysm, familial thoracic 7
  • c.1652-15G>A Single submitter aortic aneurysm, familial thoracic 7
  • c.1652-19T>C Single submitter aortic aneurysm, familial thoracic 7
  • c.1652-4A>G Single submitter aortic aneurysm, familial thoracic 7
  • c.1652-5C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.1652-9C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.166-4G>T Single submitter aortic aneurysm, familial thoracic 7
  • c.1804+8C>A Single submitter aortic aneurysm, familial thoracic 7
  • c.1805-16G>A Single submitter aortic aneurysm, familial thoracic 7
  • c.1805-17T>C Single submitter aortic aneurysm, familial thoracic 7
  • c.1805-7C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.1942+19C>G Single submitter aortic aneurysm, familial thoracic 7
  • c.1942+19C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.1943-11T>C Single submitter aortic aneurysm, familial thoracic 7
  • c.1943-13C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.1943-16C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.1943-18C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.2140+11C>G Single submitter aortic aneurysm, familial thoracic 7
  • c.2140+12C>G Single submitter aortic aneurysm, familial thoracic 7
  • c.2140+17C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.2140+18A>T Single submitter aortic aneurysm, familial thoracic 7
  • c.2141-11C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.2141-8del Single submitter aortic aneurysm, familial thoracic 7
  • c.2141-9A>C Single submitter aortic aneurysm, familial thoracic 7
  • c.2141-9A>T Single submitter aortic aneurysm, familial thoracic 7
  • c.2390+12T>A Single submitter aortic aneurysm, familial thoracic 7
  • c.2390+20C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.2390+8T>C Single submitter aortic aneurysm, familial thoracic 7
  • c.2390+9G>A Single submitter aortic aneurysm, familial thoracic 7
  • c.2391-20T>G Single submitter aortic aneurysm, familial thoracic 7
  • c.2391-22_2391-13del Single submitter aortic aneurysm, familial thoracic 7
  • c.2391-4T>C Single submitter aortic aneurysm, familial thoracic 7
  • c.2391-6C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.2462+12C>T Single submitter aortic aneurysm, familial thoracic 7
  • c.2462+13A>C Single submitter aortic aneurysm, familial thoracic 7

Uncertain significance 1438

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

  • c.1310-1G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.1652-2A>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1804+5G>T Multiple submitters MYLK-related disorder
  • c.2140+5G>C Multiple submitters aortic aneurysm, familial thoracic 7
  • c.2462+3G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.2463-1G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.374-3C>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.423-12A>G Multiple submitters aortic aneurysm, familial thoracic 7
  • c.4289-3C>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.754+3A>G Multiple submitters
  • c.-4G>A Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1
  • c.*1191T>C Multiple submitters aortic aneurysm, familial thoracic 7
  • c.*1653G>A Multiple submitters aortic aneurysm, familial thoracic 7
  • c.*334C>T Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1
  • c.*73A>C Multiple submitters aortic aneurysm, familial thoracic 7
  • p.1032_1043AETLKPMGNAKP[1] Multiple submitters aortic aneurysm, familial thoracic 7
  • p.1032_1043AETLKPMGNAKP[3] Multiple submitters aortic aneurysm, familial thoracic 7
  • p.1032AETLKPMGNAKP[3] Multiple submitters aortic aneurysm, familial thoracic 7
  • p.1905GE[2] Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1007Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1029Thr Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Ala1053Asp Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Ala1097Thr Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Ala1110Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1160Val Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Ala1176Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1176Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1190Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1198Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1220Glu Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Ala1220Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1251Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1251Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1300Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1491Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1641Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1795Val Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Ala350Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala358Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala375Thr Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Ala50Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala513Val Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Ala557Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala557Val Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Ala622Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala622Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala732Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala818Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala855Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala993Val Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg101fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg115Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1204Gln Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg1205Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1250Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1275Gln Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg1301Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg1344Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1344Trp Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg1385Cys Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1
  • p.Arg1385His Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Arg1403Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1403His Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg1405Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg1405Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1405His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1480Gln Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg1487Gln Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg1507Gln Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg1507Trp Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg152Cys Multiple submitters MYLK-related disorder ⚠
  • p.Arg152Ser Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg1549Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1549His Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg1567Trp Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Arg169Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1707Cys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg1707His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1742Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg179Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1816Cys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg1853Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1853His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg187Trp Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg206His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg206Leu Multiple submitters MYLK-related disorder ⚠
  • p.Arg23Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg371Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg378Cys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg378Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg478Gln Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg478Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg544Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg558Cys Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg558His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg55Gln Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg57Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg57Gly Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg57Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg674Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg705His Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Arg78Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg78Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg78His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg799Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg799Trp Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg821Gln Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg821Trp Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg86Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg870Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg870Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg876Cys Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Arg876Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg888Cys Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg888His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg898Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg926Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg926Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg926His Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg931Gln Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Arg931Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg931Trp Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1
  • p.Arg943Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg954Cys Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Arg982Cys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asn1028Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn1058Tyr Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asn1288Ser Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asn1505Ser Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asn1514Asp Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asn1614Lys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asn1665del Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Asn1698Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn257Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn277Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn491Ser Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Asn659Asp Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asn699Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn773Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn995Asp Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asn995Ile Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Asp100Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp1056Gly Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asp1189Gly Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asp1332Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1342Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp1605Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp1666Gly Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Asp1690Asn Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asp1703Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp1817Asn Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Asp1845Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp1858Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp1877Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp254Gly Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asp393Gly Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asp3Tyr Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Asp522Glu Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asp668Gly Multiple submitters ⚠
  • p.Asp689Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp689His Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asp764Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp830Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp839Ala Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asp865_Gly866insGluGluAsp Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp899Glu Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asp914Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp914His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp914Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp952Asn Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Asp980Glu Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Cys1153Tyr Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Cys1339Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys1515Tyr Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Cys1651Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys1713Tyr Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Cys1830Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys1830Tyr Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Cys435Tyr Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Cys594Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys803Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys805Trp Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gln1094Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln1279Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln1322His Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gln1417His Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gln1477His Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gln1523Arg Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gln1523Lys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gln1746Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln191Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln216His Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gln225Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln301Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln339Arg Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gln408Arg Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gln421Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln457Glu Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gln63Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln707His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln707Ter Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gln806Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln812Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln894Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln950Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln950Pro Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu1001Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu1001Lys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu1045Lys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu1065Gln Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu107Lys Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Glu1158Lys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu1200Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu124Asp Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu1282Lys Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Glu1369Lys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu1434Gly Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu1502Lys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu1561Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu1631Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu1784Lys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu1790Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu1802Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu1903Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu1911Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu1914del Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Glu282Gly Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu31Gly Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Glu424Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu444Lys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu450_Thr452delinsSer Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Glu462Val Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu511Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu53Lys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu562Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu576Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu653Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu653Lys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu665Gly Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Glu667Gly Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu696Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu703Val Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu714Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu802Lys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu867Lys Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Glu885Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu921Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu940Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly1021Ala Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly102Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly102Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly1083Glu Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly1095Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly1135Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly113Asp Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly1306Ser Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly1317Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1572Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly1639Ala Multiple submitters aortic aneurysm, familial thoracic 7
  • p.Gly1639Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly175Val Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly1834Ala Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly1863Arg Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly1874Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly214Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly238Arg Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Gly360Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly368Glu Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly439Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly451Val Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly468Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly494Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly494Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly494Ser Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ⚠
  • p.Gly551Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly551Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly564Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly58Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly628Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly702Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly70Arg Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly735Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly746Asp Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly77Asp Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly77Ser Multiple submitters connective tissue disorder ⚠
  • p.Gly790Ser Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly834Arg Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly834Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly835Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly871Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly871Glu Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly996Asp Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.Gly996Ser Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.His1108Gln Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.His11Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His1304Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His1577Gln Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.His1806Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His221Tyr Multiple submitters aortic aneurysm, familial thoracic 7 ⚠
  • p.His470Tyr Multiple submitters aortic aneurysm, familial thoracic 7 ⚠