Sugi Variant

Sugi Variant/TGFBR2

TGFBR2 — 1304 ClinVar variants

All ClinVar germline TGFBR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 571 flagged for review →

44 Pathogenic · 19 Pathogenic/Likely pathogenic · 58 Likely pathogenic · 128 Conflicting · 38 Benign · 31 Benign/Likely benign · 357 Likely benign · 629 Uncertain significance

Full TGFBR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 571

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 72

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 362

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 362

Predictors split 131

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

All TGFBR2 variants

Pathogenic 44

  • p.Arg460Cys Multiple submitters Cardiovascular phenotype
  • p.Arg460Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg460His Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg495Ter Multiple submitters Cardiovascular phenotype
  • p.Arg497Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg528Cys Multiple submitters TGFBR2-related disorder
  • p.Arg528His Multiple submitters Loeys-Dietz syndrome
  • p.Cys393Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly357Glu Multiple submitters Loeys-Dietz syndrome 2
  • p.Lys277Asn Multiple submitters Cardiovascular phenotype
  • c.1397-1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1525-2A>G Single submitter TGFBR2-related disorder
  • p.Ala426Asp Single submitter
  • p.Arg378Lys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg528Leu Single submitter Loeys-Dietz syndrome 2
  • p.Arg528Ser Single submitter Loeys-Dietz syndrome 2
  • p.Arg537Pro Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn384Lys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys461Arg Single submitter Loeys-Dietz syndrome 2
  • p.Cys483fs Single submitter esophageal cancer
  • p.Cys520Arg Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln508= Single submitter Loeys-Dietz syndrome 2
  • p.Glu428Lys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu431Lys Single submitter Loeys-Dietz syndrome 2
  • p.Glu526Gln Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His377Arg Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu347Pro Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Met425Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser353Phe Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser441Phe Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser449Cys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr516Lys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr321Asp Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr336Asp Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr424Cys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr448His Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr470Cys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val429Phe Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1524+1G>T No assertion criteria familial thoracic aortic aneurysm and aortic dissection
  • p.Ala535fs No assertion criteria colorectal cancer, hereditary nonpolyposis, type 6
  • p.Leu308Pro No assertion criteria Loeys-Dietz syndrome 2
  • p.Pro427Leu No assertion criteria Loeys-Dietz syndrome 2
  • p.Ser449Phe No assertion criteria Loeys-Dietz syndrome 2
  • p.Tyr336Asn No assertion criteria Loeys-Dietz syndrome 2

Pathogenic/Likely pathogenic 19

  • p.Ala414Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala527Val Multiple submitters TGFBR2-related disorder
  • p.Arg356Pro Multiple submitters Loeys-Dietz syndrome
  • p.Arg378Ser Multiple submitters esophageal cancer
  • p.Arg460Leu Multiple submitters Loeys-Dietz syndrome 2
  • p.Arg460Pro Multiple submitters Loeys-Dietz syndrome 2
  • p.Arg537Cys Multiple submitters TGFBR2-related disorder
  • p.Asp446Asn Multiple submitters TGFBR2-related disorder
  • p.Asp522Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp524Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu305His Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu305Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Met425Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Met434Lys Multiple submitters Loeys-Dietz syndrome
  • p.Thr421Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Trp287Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Trp504Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Trp521Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr470Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection

Likely pathogenic 58

  • p.Ala527Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys393Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys396Tyr Multiple submitters TGFBR2-related disorder
  • p.Cys461Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln511Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly351Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly420Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val484fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1241_1254+1del Single submitter Loeys-Dietz syndrome 2
  • c.1396+1G>T Single submitter Isolated thoracic aortic aneurysm
  • c.1397-2A>G Single submitter Loeys-Dietz syndrome 2
  • c.1524+2T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala426Thr Single submitter
  • p.Ala527Pro Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala531Asp Single submitter Loeys-Dietz syndrome 2
  • p.Arg433Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg460Ser Single submitter Loeys-Dietz syndrome 2
  • p.Arg528Gly Single submitter Ehlers-Danlos syndrome
  • p.Asn438Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp390Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp446Glu Single submitter
  • p.Asp446Gly Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp446Tyr Single submitter Loeys-Dietz syndrome 2
  • p.Cys368Arg Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Cys394Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys514Arg Single submitter Loeys-Dietz syndrome ⚠
  • p.Cys533Arg Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys533Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys533Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln444Pro Single submitter Loeys-Dietz syndrome 2
  • p.Gln532fs Single submitter Loeys-Dietz syndrome 2
  • p.Glu499Ter Single submitter Loeys-Dietz syndrome
  • p.Glu519Lys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu526Lys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly351Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly357Arg Single submitter Loeys-Dietz syndrome 2
  • p.Gly357Trp Single submitter TGFBR2-related disorder
  • p.His377Pro Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile510fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu305Pro Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu337Pro Single submitter TGFBR2-related disorder
  • p.Leu354_Ala355delinsProPro Single submitter Cardiovascular phenotype
  • p.Leu361Pro Single submitter
  • p.Leu395Pro Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Met425Thr Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Phe442Ile Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro427Ser Single submitter
  • p.Thr516_Glu519del Single submitter Marfan syndrome
  • p.Thr530Ile Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Trp287Ser Single submitter Loeys-Dietz syndrome 2
  • p.Trp504Cys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Trp521Ter Single submitter Loeys-Dietz syndrome 2
  • p.Tyr336Ser Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr424Phe Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr448Cys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val419Glu Single submitter
  • p.Val513Ala Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys372Glu No assertion criteria

Conflicting classifications of pathogenicity 128

  • c.1254+8A>G Single submitter multiple congenital anomalies/dysmorphic syndrome
  • c.1397-12C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1524+11_1524+14del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1524+12G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1524+1G>A Single submitter Loeys-Dietz syndrome ⚠
  • c.1524+3A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1525-10C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1525-1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.1525-7G>A Single submitter Ehlers-Danlos syndrome
  • c.263+6C>T Single submitter
  • c.264-7A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.455-2del Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.455-5A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.94+16245G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.94+16263A>C Single submitter diabetic retinopathy
  • c.94+16273G>A Single submitter diabetic retinopathy
  • c.94+16278G>C Single submitter diabetic retinopathy
  • c.94+16293C>A Single submitter Loeys-Dietz syndrome 2
  • c.94+6T>G Single submitter diabetic retinopathy
  • c.94+7G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.95-10C>G Single submitter diabetic retinopathy
  • c.95-2A>G Single submitter Isolated thoracic aortic aneurysm ⚠
  • c.95-3C>A Single submitter colorectal cancer, hereditary nonpolyposis, type 6
  • c.-13A>C Single submitter diabetic retinopathy
  • c.-18C>A Single submitter diabetic retinopathy
  • c.-307C>T Single submitter diabetic retinopathy
  • c.-371A>C Single submitter diabetic retinopathy
  • c.-388C>T Single submitter Loeys-Dietz syndrome 2
  • c.-59C>G Single submitter diabetic retinopathy
  • c.*2066G>A Single submitter Loeys-Dietz syndrome 2
  • c.*443A>G Single submitter Loeys-Dietz syndrome 2
  • p.Ala217Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala329Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala329Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala355Pro Single submitter Loeys-Dietz syndrome ⚠
  • p.Ala414Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala414Val Single submitter ⚠
  • p.Ala531Thr Single submitter TGFBR2-related disorder ⚠
  • p.Arg190His Single submitter colorectal cancer, hereditary nonpolyposis, type 6 ⚠
  • p.Arg207Gln Single submitter TGFBR2-related disorder ⚠
  • p.Arg224His Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Arg254Cys Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Arg254His Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Arg3= Single submitter diabetic retinopathy
  • p.Arg313Gln Single submitter esophageal cancer ⚠
  • p.Arg339Pro Single submitter TGFBR2-related disorder ⚠
  • p.Arg339Trp Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Arg356Gln Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Arg356Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg356Trp Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Arg497Gln Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Arg537His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn146= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn157Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn266Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn298Ser Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Asn384Ser Single submitter Loeys-Dietz syndrome ⚠
  • p.Asn42Ser Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Asn435Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn63Ser Single submitter diabetic retinopathy ⚠
  • p.Asp296= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp35Asn Single submitter diabetic retinopathy ⚠
  • p.Asp379Val Single submitter Cardiovascular phenotype ⚠
  • p.Asp390Asn Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Asp397Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys138Gly Single submitter diabetic retinopathy ⚠
  • p.Cys393Gly Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Cys51Arg Single submitter diabetic retinopathy ⚠
  • p.Glu114= Single submitter diabetic retinopathy
  • p.Glu290Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu93Lys Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Gly204Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly253Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly253Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly2Cys Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Gly509Val Single submitter Isolated thoracic aortic aneurysm ⚠
  • p.His102Arg Single submitter diabetic retinopathy ⚠
  • p.His27= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His301Arg Single submitter Cardiovascular phenotype ⚠
  • p.His362Arg Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.His362Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His377Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile184Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu209Phe Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Leu305Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu333Gln Single submitter ⚠
  • p.Leu347= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu350Gln Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Leu408Met Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Leu436Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu452Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu9fs Single submitter diabetic retinopathy ⚠
  • p.Lys124= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys128fs Single submitter Loeys-Dietz syndrome ⚠
  • p.Lys291del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys381Arg Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Lys46Glu Single submitter diabetic retinopathy ⚠
  • p.Met123Leu Single submitter diabetic retinopathy ⚠
  • p.Met434Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met68Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met68Val Single submitter diabetic retinopathy ⚠
  • p.Phe442Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro104Ser Single submitter Loeys-Dietz syndrome ⚠
  • p.Pro107Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro129Ala Single submitter diabetic retinopathy ⚠
  • p.Pro367Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro374Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser31Ala Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Ser382Asn Single submitter TGFBR2-related disorder ⚠
  • p.Ser401Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser553Thr Single submitter connective tissue disorder ⚠
  • p.Ser72Asn Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Thr155Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr18= Single submitter Loeys-Dietz syndrome 2
  • p.Thr206Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr230Met Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Thr338Met Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Thr39Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr39Ser Single submitter diabetic retinopathy ⚠
  • p.Thr530Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Trp504Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr424His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val376Met Single submitter Cardiovascular phenotype ⚠
  • p.Val387Leu Single submitter Ehlers-Danlos syndrome
  • p.Val387Met Single submitter Ehlers-Danlos syndrome ⚠
  • p.Val419Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val491= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val56= Single submitter Loeys-Dietz syndrome 2

Benign 38

Benign/Likely benign 31

  • c.1254+16T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1525-8C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.263+17A>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.263+17del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.264-289G>A Multiple submitters diabetic retinopathy
  • c.264-35T>G Multiple submitters diabetic retinopathy
  • c.454+11T>C Multiple submitters Loeys-Dietz syndrome 2
  • c.94+16202A>G Multiple submitters diabetic retinopathy
  • c.94+16238C>T Multiple submitters diabetic retinopathy
  • c.94+16299A>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.95-7T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.*1833A>C Multiple submitters
  • p.Asn42= Multiple submitters diabetic retinopathy
  • p.Asp364= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln320= Multiple submitters
  • p.His328= Multiple submitters Ehlers-Danlos syndrome
  • p.Ile375= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu354= Multiple submitters Cardiovascular phenotype
  • p.Lys372= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys488= Multiple submitters Loeys-Dietz syndrome 2
  • p.Met373Ile Multiple submitters connective tissue disorder
  • p.Pro25= Multiple submitters diabetic retinopathy
  • p.Ser213= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser486= Multiple submitters colorectal cancer, hereditary nonpolyposis, type 6
  • p.Thr230= Multiple submitters Loeys-Dietz syndrome 2
  • p.Thr309= Multiple submitters colorectal cancer, hereditary nonpolyposis, type 6
  • p.Thr315Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr325= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr516= Multiple submitters Ehlers-Danlos syndrome
  • p.Val191Ile Multiple submitters Loeys-Dietz syndrome 2
  • p.Val534= Multiple submitters Ehlers-Danlos syndrome

Likely benign 357

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

  • c.1254+12C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1254+98A>G Multiple submitters
  • c.1255-15C>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1255-4A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1396+20A>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1524+10G>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1525-14C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1525-5T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1525-6C>G Multiple submitters Loeys-Dietz syndrome 2
  • c.263+7_263+9delinsGAC Multiple submitters diabetic retinopathy
  • c.263+9G>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.264-11C>T Multiple submitters diabetic retinopathy
  • c.264-5T>G Multiple submitters diabetic retinopathy
  • c.455-4T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.455-9C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.94+16236G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.94+16256C>T Multiple submitters diabetic retinopathy
  • c.94+16308T>C Multiple submitters diabetic retinopathy
  • c.95-20A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.95-7T>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.-302A>G Multiple submitters diabetic retinopathy
  • c.-31G>A Multiple submitters diabetic retinopathy
  • c.*105G>A Multiple submitters Loeys-Dietz syndrome 2
  • c.*149A>T Multiple submitters Loeys-Dietz syndrome 2
  • c.*1507A>G Multiple submitters Loeys-Dietz syndrome 2
  • c.*1815C>T Multiple submitters Loeys-Dietz syndrome 2
  • c.*330_*331del Multiple submitters
  • c.*835C>A Multiple submitters
  • p.Ala232= Multiple submitters Loeys-Dietz syndrome 2
  • p.Ala285= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala310= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala326= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg190= Multiple submitters Loeys-Dietz syndrome 2
  • p.Arg193Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg207= Multiple submitters Loeys-Dietz syndrome 2
  • p.Arg403His Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Arg495= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn154= Multiple submitters Loeys-Dietz syndrome 2
  • p.Asn236= Multiple submitters Loeys-Dietz syndrome 2
  • p.Asn34= Multiple submitters Loeys-Dietz syndrome 2
  • p.Asn384= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn438= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn490= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn70= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp222= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp226= Multiple submitters Loeys-Dietz syndrome 2
  • p.Asp379= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp390= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp469= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp494= Multiple submitters Loeys-Dietz syndrome 2
  • p.Asp524= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp560= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp92= Multiple submitters diabetic retinopathy
  • p.Cys393= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys514= Multiple submitters Loeys-Dietz syndrome 2
  • p.Cys552= Multiple submitters Loeys-Dietz syndrome 2
  • p.Gln270= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln49= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu214= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu283= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu311= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu316= Multiple submitters Loeys-Dietz syndrome 2
  • p.Glu431= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu466= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu78= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly177= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly2= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly318= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly331= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly4= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly43= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly549= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His102= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His13= Multiple submitters Loeys-Dietz syndrome 2
  • p.His301= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His340= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His507= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His523= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile185= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile235= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile510= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu162= Multiple submitters Loeys-Dietz syndrome 2
  • p.Leu172= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu176= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu220= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu241= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu299= Multiple submitters Loeys-Dietz syndrome 2
  • p.Leu305= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu308= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu317= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu350= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu386= Multiple submitters Loeys-Dietz syndrome 2
  • p.Leu391= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu404= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu408= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu413= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu452= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu492= Multiple submitters Loeys-Dietz syndrome 2
  • p.Leu529= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu547= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu563= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu97= Multiple submitters diabetic retinopathy
  • p.Lys126= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys196= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys208= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys252= Multiple submitters Loeys-Dietz syndrome 2
  • p.Lys262= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys349= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys52= Multiple submitters diabetic retinopathy
  • p.Lys556= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys567= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys65= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Met36Val Multiple submitters diabetic retinopathy
  • p.Phe212= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe53= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro129= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro174= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro367= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro406= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro472= Multiple submitters Loeys-Dietz syndrome 2
  • p.Pro473= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro80= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser150= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser198= Multiple submitters Cardiovascular phenotype
  • p.Ser548= Multiple submitters Loeys-Dietz syndrome 2
  • p.Ser553= Multiple submitters Loeys-Dietz syndrome 2
  • p.Ser69= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr203= Multiple submitters Loeys-Dietz syndrome 2
  • p.Thr248= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr267= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr315= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr338= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr392= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr407= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr421= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr445= Multiple submitters Loeys-Dietz syndrome 2
  • p.Thr99= Multiple submitters diabetic retinopathy
  • p.Tyr189= Multiple submitters Loeys-Dietz syndrome 2
  • p.Val250= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val28= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val376= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val45= Multiple submitters diabetic retinopathy
  • p.Val453= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val467= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val484= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val513= Multiple submitters Loeys-Dietz syndrome 2
  • c.1254+11G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1254+14A>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1254+15G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1254+16T>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1254+17G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1254+9G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1254+9G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1255-17G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1255-20A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1255-4A>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1255-5T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1255-7G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1255-8T>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1396+116C>A Single submitter
  • c.1396+13C>T Single submitter
  • c.1396+15G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1396+16C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1396+20_1396+22del Single submitter
  • c.1396+20A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1396+7G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1396+9G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1397-116G>A Single submitter
  • c.1397-11T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1397-13G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1397-6T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1397-8C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1524+10G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1524+11_1524+12del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1524+18A>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1525-10C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1525-11del Single submitter
  • c.1525-15T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1525-4A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1525-9C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1525-9C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.263+12T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.263+22T>C Single submitter
  • c.263+9G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.264-3T>C Single submitter Loeys-Dietz syndrome 2
  • c.264-4C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.454+12T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.454+16T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.454+17_454+27del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.454+17_454+47del31ins22 Single submitter
  • c.454+17T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.454+22del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.454+278C>T Single submitter
  • c.454+74A>G Single submitter
  • c.455-18G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.455-6C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.455-7C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.455-8C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.94+12C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.94+12C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.94+12C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.94+15G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.94+16253C>A Single submitter
  • c.94+16315A>G Single submitter
  • c.94+18C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.94+20G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.94+40G>T Single submitter
  • c.94+9T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.95-10C>T Single submitter
  • c.95-11T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.95-12C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.95-13T>C Single submitter Loeys-Dietz syndrome 2
  • c.95-18A>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.95-6C>T Single submitter Loeys-Dietz syndrome 2
  • c.95-8C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.-64G>T Single submitter
  • c.*11G>A Single submitter
  • c.*1880G>A Single submitter
  • c.*1886G>T Single submitter
  • c.*2248del Single submitter
  • c.*310_*311del Single submitter
  • c.*312AT[11] Single submitter
  • c.*330C>A Single submitter
  • c.*599C>A Single submitter
  • c.*858C>T Single submitter
  • p.Ala179= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala261= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala275= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala359= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala44= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala463= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala531= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg193= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg313= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg339= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg348= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg378= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg403= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg433= Single submitter Loeys-Dietz syndrome 2
  • p.Arg460= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg528= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg57= Single submitter Loeys-Dietz syndrome 2
  • p.Asn146Ser Single submitter
  • p.Asn192= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn266= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn332= Single submitter
  • p.Asn41= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn415= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn462= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn564= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp115= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp247= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp40= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp446= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp522= Single submitter Loeys-Dietz syndrome 2
  • p.Cys121= Single submitter
  • p.Cys143= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys216= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys231= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys394= Single submitter Loeys-Dietz syndrome 2
  • p.Cys520= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys67= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln29= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln532= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu131= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu211= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu214Ter Single submitter Loeys-Dietz syndrome 2
  • p.Glu302= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu519= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu542= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly130= Single submitter
  • p.Gly130Asp Single submitter diabetic retinopathy
  • p.Gly251= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly351= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly357= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly399= Single submitter Loeys-Dietz syndrome 2
  • p.Gly417= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly509= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His215Arg Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His360= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile14= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile147= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile148= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile278= Single submitter Loeys-Dietz syndrome 2
  • p.Ile385= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu160= Single submitter Loeys-Dietz syndrome 2
  • p.Leu161= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu173= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu209= Single submitter Loeys-Dietz syndrome 2
  • p.Leu249= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu323= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu361= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu395= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu402= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu436= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu5= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu50= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu505= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu6= Single submitter
  • p.Lys127= Single submitter familial thoracic aortic aneurysm and aortic dissection

Uncertain significance 629

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

  • c.1254+6T>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1396+6T>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.264-19A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.454+3G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.-9G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala116Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala116Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala21Ser Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Ala256Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala261Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala310Ser Multiple submitters Ehlers-Danlos syndrome
  • p.Ala310Thr Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Ala326Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala355Thr Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Ala355Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala422Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala422Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala44Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala535_Arg537delinsSer Multiple submitters Loeys-Dietz syndrome 2
  • p.Arg190Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg190Gly Multiple submitters colorectal cancer, hereditary nonpolyposis, type 6 ⚠
  • p.Arg193Gln Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Arg19Leu Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Arg207Trp Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Arg224Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg224Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg313Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg313Pro Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Arg313Trp Multiple submitters Isolated thoracic aortic aneurysm ⚠
  • p.Arg339Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg339Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg348Cys Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Arg348His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg3Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg3Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg403Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg479Gln Multiple submitters Arterial dissection ⚠
  • p.Arg479Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg479Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn144Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn157Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn234Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn303His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn303Ser Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Asn33Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn33Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn415Asp Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Asn42Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn490Ser Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Asn506Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn506Ser Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Asn63Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp247Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp35His Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Asp364Glu Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Asp411Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp412Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp524Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp545Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp560Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys61Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln166= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln194Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln265His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln532Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu125Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu151Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu152Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu214Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu245Asp Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Glu257Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu269Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu283Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu302Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu456Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu466Val Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Glu485Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu554Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu555Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu559fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu93Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly169Arg Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Gly253fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly2Ser Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Gly318Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly43Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly549Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly561Ala Multiple submitters esophageal cancer ⚠
  • p.Gly561Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly561Ser Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.His13Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His215Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His360Asp Multiple submitters ⚠
  • p.His377fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His481Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His507Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His523Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile122Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile14Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile180Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile180Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile183Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile24Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile24Thr Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Ile278Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile293Phe Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Ile297Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile304Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile324Met Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Ile358fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile375Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile37Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile385Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile73Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile76Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu209Ile Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Leu220Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu323Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu323Val Multiple submitters colorectal cancer, hereditary nonpolyposis, type 6
  • p.Leu333Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu386Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu413Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu413Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu505Pro Multiple submitters ⚠
  • p.Lys105Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys105Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys120Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys120Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys124Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys124Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys264Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys349Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys372Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys388Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys477Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys556fs Multiple submitters Loeys-Dietz syndrome 2
  • p.Met135Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met210Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met457Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met487Leu Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Met487Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe186Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe212Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe279Leu Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Phe503Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro104Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro11Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro129fs Multiple submitters esophageal cancer
  • p.Pro175Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro26Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro374Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro406Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro498Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro498Thr Multiple submitters Thoracic aortic aneurysm or dissection ⚠
  • p.Pro501Ser Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Ser139Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser150Pro Multiple submitters TGFBR2-related disorder ⚠
  • p.Ser156Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser156Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser171Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser181Tyr Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Ser199Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser225Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser268Leu Multiple submitters esophageal cancer ⚠
  • p.Ser343Gly Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Ser363Gly Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Ser383Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser409fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser416Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser476Phe Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Ser539Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser539Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser548Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser553Leu Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Thr132Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr200Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr239Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr309Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr366Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr407Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr407Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr407Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr445Asn Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr458Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr516Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr516Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr566Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr566Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr74Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Trp322Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr187del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr259Cys Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Tyr281Cys Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Tyr321Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr336Phe Multiple submitters Loeys-Dietz syndrome 2 ⚠
  • p.Tyr470Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val15Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val167Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val167Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val167Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val178Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val182Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val276Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val276Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val439Ala Multiple submitters esophageal cancer ⚠
  • p.Val447Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val467Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val491Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.1254+1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1254+5G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1396+13C>A Single submitter
  • c.1396+1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1396+5_1396+11del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1397-157_1397-153del Single submitter
  • c.1397-6T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1524+4A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1524+7A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1525-15_1576dup Single submitter
  • c.1525-3C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.263+15_263+16insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAGCCTTTT Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.263+5G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.263+6_263+7inv Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.454+8_454+9del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.455-1G>A Single submitter
  • c.455-3C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.94+16232G>A Single submitter
  • c.94+16260C>G Single submitter
  • c.94+16260C>T Single submitter
  • c.94+16282A>G Single submitter
  • c.95-3679C>A Single submitter Loeys-Dietz syndrome 2
  • c.95-3C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.95-3C>T Single submitter
  • c.95-5_95-3del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.-11C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.-15G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.-1C>T Single submitter Loeys-Dietz syndrome 2
  • c.-26G>A Single submitter Loeys-Dietz syndrome 2
  • c.-312_-255del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.-56G>A Single submitter
  • c.-58G>A Single submitter
  • c.-5C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.-60C>G Single submitter
  • c.-78G>T Single submitter
  • c.-7G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.*1201C>T Single submitter Loeys-Dietz syndrome 2
  • c.*1207A>G Single submitter Loeys-Dietz syndrome 2
  • c.*1326G>A Single submitter Loeys-Dietz syndrome 2
  • c.*1327C>G Single submitter Loeys-Dietz syndrome 2
  • c.*1465T>C Single submitter Loeys-Dietz syndrome 2
  • c.*1572A>G Single submitter Loeys-Dietz syndrome 2
  • c.*1637G>A Single submitter Loeys-Dietz syndrome 2
  • c.*1715A>G Single submitter Loeys-Dietz syndrome 2
  • c.*1887G>A Single submitter Loeys-Dietz syndrome 2
  • c.*1966A>G Single submitter Loeys-Dietz syndrome 2
  • c.*2332A>C Single submitter Loeys-Dietz syndrome 2
  • c.*2335T>A Single submitter Loeys-Dietz syndrome 2
  • c.*2340T>C Single submitter Loeys-Dietz syndrome 2
  • c.*2425C>A Single submitter Loeys-Dietz syndrome 2
  • c.*328A>C Single submitter colorectal cancer, hereditary nonpolyposis, type 6
  • c.*33A>G Single submitter Loeys-Dietz syndrome 2
  • c.*352A>G Single submitter Loeys-Dietz syndrome 2
  • c.*3C>A Single submitter Loeys-Dietz syndrome 2
  • c.*407A>G Single submitter Loeys-Dietz syndrome 2
  • c.*579T>C Single submitter Loeys-Dietz syndrome 2
  • c.*604C>T Single submitter
  • c.*799A>G Single submitter Loeys-Dietz syndrome 2
  • c.*820G>A Single submitter Loeys-Dietz syndrome 2
  • c.*859G>A Single submitter Loeys-Dietz syndrome 2
  • c.*86A>G Single submitter Loeys-Dietz syndrome 2
  • c.*988C>T Single submitter Loeys-Dietz syndrome 2
  • c.*989G>A Single submitter Loeys-Dietz syndrome 2
  • p.Ala116Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala117Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala179Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala179Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala21Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala261Asp Single submitter ⚠
  • p.Ala261Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala275Ser Single submitter ⚠
  • p.Ala285Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala326Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala355Ser Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Ala422Glu Single submitter ⚠
  • p.Ala426Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala451Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala451Val Single submitter ⚠
  • p.Ala531Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala86Ser Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Arg207Gly Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Arg207Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg207Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg313Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg370Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg370Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg370Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg3Leu Single submitter ⚠
  • p.Arg403Leu Single submitter Loeys-Dietz syndrome 2
  • p.Arg495Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg550fs Single submitter Loeys-Dietz syndrome 2
  • p.Arg550Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠