Sugi Variant

Sugi Variant/TGFBR1

TGFBR1 — 1143 ClinVar variants

All ClinVar germline TGFBR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 507 flagged for review →

45 Pathogenic · 11 Pathogenic/Likely pathogenic · 53 Likely pathogenic · 93 Conflicting · 31 Benign · 15 Benign/Likely benign · 288 Likely benign · 607 Uncertain significance

Full TGFBR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 507

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 49

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

Predicted LoF vs a conflicting call 10

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 361

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 361

Predictors split 86

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

All TGFBR1 variants

Pathogenic 45

  • c.974-1G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg487Gln Multiple submitters TGFBR1-related disorder
  • p.Glu228del Multiple submitters Loeys-Dietz syndrome
  • p.Lys376Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.973+1G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.974-2A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.98-1G>A Single submitter multiple self-healing squamous epithelioma
  • p.Ala230Thr Single submitter Loeys-Dietz syndrome 1
  • p.Ala24fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala31fs Single submitter Loeys-Dietz syndrome 1
  • p.Ala485_Thr491del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg414Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg482Gly Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg487Pro Single submitter Cardiovascular phenotype
  • p.Asp435fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys348Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln35fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu173fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu239Lys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu245Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly212dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly261Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu278fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu316fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu464fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu77Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys232Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys335Asn Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys397Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro10fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro327fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro79_Arg80insAlaGlyArgGlyGlySerArgLeuTer Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser236Pro Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser460fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr362fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Trp409Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr295Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val229Ala Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val279Ala Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val432fs Single submitter Loeys-Dietz syndrome 1
  • p.Val466fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1255+1G>A No assertion criteria familial thoracic aortic aneurysm and aortic dissection
  • p.Asp400Gly No assertion criteria Loeys-Dietz syndrome 1
  • p.Gly353Val No assertion criteria Loeys-Dietz syndrome
  • p.Thr200Ile No assertion criteria Loeys-Dietz syndrome 1

Pathogenic/Likely pathogenic 11

  • p.Arg487Trp Multiple submitters Loeys-Dietz syndrome 1
  • p.Arg80Ter Multiple submitters TGFBR1-related disorder
  • p.Asp266Gly Multiple submitters Loeys-Dietz syndrome 1
  • p.Glu227Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly214Ser Multiple submitters Loeys-Dietz syndrome 1
  • p.Gly312Ser Multiple submitters TGFBR1-related disorder
  • p.His315Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu486Ser Multiple submitters TGFBR1-related disorder
  • p.Met253Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe234Leu Multiple submitters TGFBR1-related disorder
  • p.Ser241Leu Multiple submitters Marfan syndrome

Likely pathogenic 53

  • c.973+1G>A Multiple submitters TGFBR1-related disorder
  • p.Ala265del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala355Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg225Gly Multiple submitters TGFBR1-related disorder
  • p.Asp351Ala Multiple submitters TGFBR1-related disorder
  • p.Asp400Asn Multiple submitters Loeys-Dietz syndrome 1
  • p.His315Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys232Asn Multiple submitters Ehlers-Danlos syndrome
  • c.1228_1255+1dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1256-1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.344-2A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.574+1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.575-1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.575-1G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.80_97+14del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.805+1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.805+1G>T Single submitter multiple self-healing squamous epithelioma
  • c.974-2A>C Single submitter
  • c.98-1G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.98-2A>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala463fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg457Ter Single submitter TGFBR1-related disorder
  • p.Arg482Ser Single submitter Loeys-Dietz syndrome
  • p.Asp333Asn Single submitter
  • p.Asp333Gly Single submitter TGFBR1-related disorder
  • p.Asp351Gly Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp435His Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys347fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys348Arg Single submitter aortic aneurysm
  • p.Cys474Trp Single submitter
  • p.Glu227Val Single submitter ⚠
  • p.Gly214Arg Single submitter Loeys-Dietz syndrome 1
  • p.Gly217Glu Single submitter Loeys-Dietz syndrome 1
  • p.Leu143Ter Single submitter
  • p.Leu352Phe Single submitter Abnormal palate morphology ⚠
  • p.Leu354fs Single submitter multiple self-healing squamous epithelioma
  • p.Leu354Pro Single submitter Loeys-Dietz syndrome 1
  • p.Lys232Glu Single submitter TGFBR1-related disorder
  • p.Lys326Glu Single submitter
  • p.Met253Ile Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Met253Thr Single submitter
  • p.Met318Arg Single submitter TGFBR1-related disorder
  • p.Pro381_Glu382insTer Single submitter
  • p.Ser241Trp Single submitter
  • p.Ser287Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr375Arg Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Trp224Leu Single submitter
  • p.Trp242Arg Single submitter
  • p.Trp277Arg Single submitter Loeys-Dietz syndrome 1
  • p.Tyr282Asp Single submitter
  • p.Val438del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu245Asp No assertion criteria Loeys-Dietz syndrome 1
  • p.Leu276Pro No assertion criteria Loeys-Dietz syndrome 1

Conflicting classifications of pathogenicity 93

  • c.1131-11A>T Single submitter Loeys-Dietz syndrome
  • c.1131-3dup Single submitter Loeys-Dietz syndrome
  • c.1131-8T>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1256-3C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1256-8T>C Single submitter Loeys-Dietz syndrome
  • c.1387-4G>A Single submitter Loeys-Dietz syndrome
  • c.1387-4G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.343+1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.343+1G>C Single submitter Loeys-Dietz syndrome 1 ⚠
  • c.343+3A>G Single submitter Loeys-Dietz syndrome
  • c.574+7_574+8del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.97+14C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.*2106G>T Single submitter Loeys-Dietz syndrome 1
  • c.*2685T>G Single submitter Loeys-Dietz syndrome 1
  • c.*441C>T Single submitter Loeys-Dietz syndrome 1
  • c.*4623G>C Single submitter Loeys-Dietz syndrome 1
  • p.Ala202Val Single submitter TGFBR1-related disorder ⚠
  • p.Ala22_Ala26del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala23_Ala26del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala23_Ala26dup Single submitter multiple self-healing squamous epithelioma
  • p.Ala24_Ala26dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala25_Ala26dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala26dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala355= Single submitter Loeys-Dietz syndrome
  • p.Ala380= Single submitter Ehlers-Danlos syndrome
  • p.Ala7Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg151His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg157Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg157Ter Single submitter Loeys-Dietz syndrome ⚠
  • p.Arg168His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg215Ter Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg225Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg237Gly Single submitter TGFBR1-related disorder ⚠
  • p.Arg255Cys Single submitter Loeys-Dietz syndrome 1 ⚠
  • p.Arg413Ter Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg487Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn478Ser Single submitter multiple self-healing squamous epithelioma ⚠
  • p.Asp163fs Single submitter Loeys-Dietz syndrome 1 ⚠
  • p.Asp266Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp290_Tyr291insTer Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys347Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys41fs Single submitter Loeys-Dietz syndrome ⚠
  • p.Cys446_Glu447delinsTer Single submitter Familial aortopathy ⚠
  • p.Cys474Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys474Tyr Single submitter Loeys-Dietz syndrome 1 ⚠
  • p.Gln275Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu245Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly188Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly192Asp Single submitter Ehlers-Danlos syndrome, classic type ⚠
  • p.Gly192Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly214Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly312Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly374Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly479Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly52Arg Single submitter TGFBR1-related disorder ⚠
  • p.His156Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His283Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His331= Single submitter Loeys-Dietz syndrome
  • p.His67Tyr Single submitter Loeys-Dietz syndrome ⚠
  • p.Ile139Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile320Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile72Leu Single submitter TGFBR1-related disorder ⚠
  • p.Leu196Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu260Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu276= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu483Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys490Glu Single submitter Loeys-Dietz syndrome 1 ⚠
  • p.Lys64Arg Single submitter Loeys-Dietz syndrome ⚠
  • p.Met379Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met379Val Single submitter TGFBR1-related disorder ⚠
  • p.Phe216Cys Single submitter Loeys-Dietz syndrome 1 ⚠
  • p.Pro194= Single submitter Loeys-Dietz syndrome
  • p.Pro327Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro381Ser Single submitter Loeys-Dietz syndrome ⚠
  • p.Pro436Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser172= Single submitter Loeys-Dietz syndrome
  • p.Ser236Phe Single submitter TGFBR1-related disorder ⚠
  • p.Ser280Ter Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser287Phe Single submitter Loeys-Dietz syndrome 1 ⚠
  • p.Ser69= Single submitter Loeys-Dietz syndrome
  • p.Thr114Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr176= Single submitter Loeys-Dietz syndrome
  • p.Thr274Ala Single submitter TGFBR1-related disorder ⚠
  • p.Thr296= Single submitter Loeys-Dietz syndrome
  • p.Thr32Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr375= Single submitter Ehlers-Danlos syndrome
  • p.Tyr282His Single submitter Loeys-Dietz syndrome 1 ⚠
  • p.Tyr429= Single submitter Loeys-Dietz syndrome
  • p.Tyr429His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val115= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val16Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val219Phe Single submitter Thoracic aortic aneurysm or dissection ⚠
  • p.Val299= Single submitter Loeys-Dietz syndrome

Benign 31

Benign/Likely benign 15

  • c.1387-14dup Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1387-15del Multiple submitters
  • c.1387-16T>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.574+18C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.575-9dup Multiple submitters Ehlers-Danlos syndrome
  • c.97+15GGCG[4] Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala24_Ala26del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala25_Ala26del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala26del Multiple submitters Ehlers-Danlos syndrome
  • p.Asn270= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn344= Multiple submitters Loeys-Dietz syndrome
  • p.Gly226= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu406= Multiple submitters Loeys-Dietz syndrome
  • p.Lys64= Multiple submitters Loeys-Dietz syndrome
  • p.Val153Ile Multiple submitters Loeys-Dietz syndrome 1

Likely benign 288

  • c.1131-10T>A Multiple submitters Loeys-Dietz syndrome
  • c.1131-12A>C Multiple submitters Loeys-Dietz syndrome
  • c.1131-8T>C Multiple submitters Loeys-Dietz syndrome
  • c.1256-10del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1256-12A>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1256-13T>A Multiple submitters Loeys-Dietz syndrome
  • c.1387-14A>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1387-8T>C Multiple submitters Loeys-Dietz syndrome
  • c.343+15A>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.344-142G>A Multiple submitters
  • c.344-71G>A Multiple submitters
  • c.344-9C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.575-5T>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.97+17C>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.97+27_97+41dup Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.973+17T>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.973+19C>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.98-6T>C Multiple submitters Loeys-Dietz syndrome
  • c.*4499G>A Multiple submitters
  • p.Ala25= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala33= Multiple submitters Loeys-Dietz syndrome
  • p.Ala4= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala412= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala481= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg157= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg487= Multiple submitters Loeys-Dietz syndrome
  • p.Arg80= Multiple submitters Loeys-Dietz syndrome
  • p.Asn160= Multiple submitters Loeys-Dietz syndrome
  • p.Asn45= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn68= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys106= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys138= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys86= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln425= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu218= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu247= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu499= Multiple submitters Loeys-Dietz syndrome
  • p.Gly132= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly217= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly222= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly271= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly353= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His315= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His317= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile201= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile401= Multiple submitters Loeys-Dietz syndrome
  • p.Leu14= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu15= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu17= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu177= Multiple submitters multiple self-healing squamous epithelioma
  • p.Leu195= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu196= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu28= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu307= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu352= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu426= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu450= Multiple submitters Loeys-Dietz syndrome
  • p.Leu486= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu492= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu495= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu53= Multiple submitters Loeys-Dietz syndrome
  • p.Phe136= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe234= Multiple submitters Loeys-Dietz syndrome
  • p.Pro29= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro381= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro83= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser117= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser165= Multiple submitters Loeys-Dietz syndrome
  • p.Ser187= Multiple submitters Loeys-Dietz syndrome
  • p.Ser235= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser241= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser311= Multiple submitters Loeys-Dietz syndrome
  • p.Ser437= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser94= Multiple submitters Cardiovascular phenotype
  • p.Thr185= Multiple submitters Loeys-Dietz syndrome
  • p.Thr186= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr272= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr323= Multiple submitters Loeys-Dietz syndrome
  • p.Thr92= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr98= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr146= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr428= Multiple submitters Loeys-Dietz syndrome
  • p.Tyr99= Multiple submitters Loeys-Dietz syndrome
  • p.Val145= Multiple submitters Loeys-Dietz syndrome
  • p.Val206= Multiple submitters Loeys-Dietz syndrome
  • p.Val356= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1130+13A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1130+14C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1130+16A>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1130+19A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1130+20T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1130+20T>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1130+314T>G Single submitter
  • c.1130+52C>T Single submitter
  • c.1130+7T>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1130+9T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1131-16T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1131-19T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1131-19T>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1131-202C>T Single submitter
  • c.1131-232C>G Single submitter
  • c.1131-8T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1131-9T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1255+11C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1255+16C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1255+19C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1255+8G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1256-17T>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1256-253A>G Single submitter
  • c.1256-9C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1256-9C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1386+17G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1386+8T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1386+9T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1387-15T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1387-15T>C Single submitter Loeys-Dietz syndrome
  • c.1387-261C>T Single submitter
  • c.1387-325A>G Single submitter
  • c.1387-5T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1387-7C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.343+10A>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.343+12A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.343+14A>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.343+16T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.344-16C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.344-16C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.344-275A>G Single submitter
  • c.344-31G>A Single submitter
  • c.344-9dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.574+12G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.574+13T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.574+15T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.574+19C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.574+251C>T Single submitter
  • c.574+50C>T Single submitter
  • c.574+8A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.575-10T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.575-13T>C Single submitter Loeys-Dietz syndrome
  • c.575-18A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.575-6C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.575-8A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.805+10A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.805+11T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.806-11C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.806-20A>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.806-3C>T Single submitter Loeys-Dietz syndrome
  • c.806-9G>C Single submitter
  • c.97+12_97+15del Single submitter
  • c.97+12C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.97+15GGCG[2] Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.97+16G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.97+18G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.97+19G>A Single submitter
  • c.97+26_97+44dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.97+4_97+22dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.97+7G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.97+7G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.97+8GCGGC[3] Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.973+15A>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.973+17T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.973+19C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.973+7C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.973+9A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.973+9dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.974-10G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.974-17A>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.974-22T>A Single submitter
  • c.974-4T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.974-6C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.974-6C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.98-10C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.98-16C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.98-17T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.98-18A>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.98-18del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.98-19A>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.98-4C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.98-5T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.98-8T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.*1428G>C Single submitter
  • c.*1687_*1688del Single submitter
  • c.*2100T>G Single submitter
  • c.*2106GTT[2] Single submitter
  • c.*2645A>C Single submitter
  • c.*2703G>A Single submitter
  • c.*4300C>T Single submitter
  • c.*4804dup Single submitter
  • p.Ala131= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala202= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala22= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala23= Single submitter
  • p.Ala230= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala265= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala26Thr Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala310= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala368= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala463= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala468= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala485= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala73= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg151= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg240= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg255= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg357= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg398= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg414= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg472= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg482= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn389= Single submitter
  • p.Asp269= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp290= Single submitter
  • p.Asp435= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp44= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp76= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp81= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys100= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys101= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys38= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln103= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln497= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu110Lys Single submitter connective tissue disorder
  • p.Glu161= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu238= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu245= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu410= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu439= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly301= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly322= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly52= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His256= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His358= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile233= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile248= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile259= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile367= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile454= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile75= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu12= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu121= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu126= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu13= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu141= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu143= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu180= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu254= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu313= Single submitter Loeys-Dietz syndrome
  • p.Leu334= Single submitter Loeys-Dietz syndrome
  • p.Leu34= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu384= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu40= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu464= Single submitter
  • p.Leu483= Single submitter Loeys-Dietz syndrome
  • p.Lys376= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys391= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Phe289= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro119Ser Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro123= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro133= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro369= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro79= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser336= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser360= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser434= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser493= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ter504= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr175= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr200= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr251= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr274= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr346= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr362= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr364= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr42= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr484= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr182= Single submitter Loeys-Dietz syndrome
  • p.Tyr295= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr378= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr476= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val129= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val158= Single submitter Loeys-Dietz syndrome
  • p.Val16= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val252= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val438= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val466= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val58= Single submitter
  • p.Val65= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val85= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr309= No assertion criteria

Uncertain significance 607

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

  • c.1256-3C>A Multiple submitters Loeys-Dietz syndrome
  • c.1386+6T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.344-13G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.574+6A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.805+5_805+6del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.805+5del Multiple submitters Loeys-Dietz syndrome
  • c.806-14A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.806-15_806-7del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.98-4C>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.-3A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.*2103T>G Multiple submitters Loeys-Dietz syndrome 1
  • c.*2112G>T Multiple submitters Loeys-Dietz syndrome 1
  • c.*2T>C Multiple submitters Loeys-Dietz syndrome
  • c.*3C>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala18Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala19Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala20Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala21_Ala26del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala21Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala22Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala24Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala264Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala26Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala310Val Multiple submitters TGFBR1-related disorder ⚠
  • p.Ala314Ser Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Ala33Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala33Val Multiple submitters Loeys-Dietz syndrome
  • p.Ala355Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala380Gly Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Ala380Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala380Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala399Gly Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Ala403Gly Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Ala463Thr Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Ala477Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala480Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala481fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala481Val Multiple submitters Loeys-Dietz syndrome 1 ⚠
  • p.Ala4Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg151Cys Multiple submitters multiple self-healing squamous epithelioma ⚠
  • p.Arg157Gln Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Arg168Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg168Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg199Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg215Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg225Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg240Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg244Cys Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Arg294= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg332_Asp333del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg398His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg413Gln Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Arg413Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg451Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg465Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg80Gln Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Asn102Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn102Ser Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Asn150Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn160Ser Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Asn267Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn270Ser Multiple submitters Loeys-Dietz syndrome
  • p.Asn45Ser Multiple submitters Isolated thoracic aortic aneurysm ⚠
  • p.Asn68Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp167Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp183Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp63Asn Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Cys347Ser Multiple submitters Loeys-Dietz syndrome 1 ⚠
  • p.Cys347Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys461Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys54Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln103Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu209Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu238Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu239Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu300Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu319Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu382Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu394Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu410Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu462Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu60Asp Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Glu74Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu74Lys Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Gly120Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly261Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly30Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly30Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly322Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly345Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly419Arg Multiple submitters Loeys-Dietz syndrome ⚠
  • p.His105Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His149Asp Multiple submitters Cardiovascular phenotype
  • p.His155Asp Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.His256Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His283del Multiple submitters Loeys-Dietz syndrome 1
  • p.His285Arg Multiple submitters Loeys-Dietz syndrome
  • p.His285Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His317Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His331Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile147Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile154Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile201Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile205Val Multiple submitters Loeys-Dietz syndrome 1 ⚠
  • p.Ile248Phe Multiple submitters TGFBR1-related disorder ⚠
  • p.Ile259Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile263Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile263Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile320Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile339Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile365Thr Multiple submitters Loeys-Dietz syndrome 1 ⚠
  • p.Ile401Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile417Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile454Val Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Ile470Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu111Val Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Leu126Val Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Leu14Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu17Gln Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Leu254Val Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Leu27_Leu28del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu28_Pro29insLeu Multiple submitters Loeys-Dietz syndrome 1
  • p.Leu406Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu426Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu492del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu495Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu53Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys116Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys326Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys342Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys343del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys449Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys489Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met142Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met184Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met318Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Met404Thr Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Met404Val Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Met467Val Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Phe170Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe37= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe408Ile Multiple submitters Loeys-Dietz syndrome
  • p.Pro123Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro133Ala Multiple submitters Loeys-Dietz syndrome 1 ⚠
  • p.Pro133Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro164Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro169Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro29Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro369Ala Multiple submitters TGFBR1-related disorder ⚠
  • p.Pro436Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro452Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro452fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro88Thr Multiple submitters Loeys-Dietz syndrome 1 ⚠
  • p.Ser140Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser235Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser236del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser308Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser434Cys Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Ser437Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser496Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser94Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr113Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr114Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr175Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr176Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr186Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr204Ile Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Thr272Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr296Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr298Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr309Met Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Thr98Ser Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Trp220Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Trp475Cys Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Trp475Ser Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Tyr146Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr182Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr295Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr378Cys Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Tyr428Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr429Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr476Cys Multiple submitters ⚠
  • p.Tyr99Cys Multiple submitters Ehlers-Danlos syndrome
  • p.Val134Met Multiple submitters Loeys-Dietz syndrome
  • p.Val137Ile Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Val145Gly Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Val197Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val219Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val231Ile Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Val231Leu Multiple submitters Loeys-Dietz syndrome 1 ⚠
  • p.Val279Leu Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Val297Ile Multiple submitters multiple self-healing squamous epithelioma ⚠
  • p.Val299Ala Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Val321Phe Multiple submitters Loeys-Dietz syndrome
  • p.Val341Ala Multiple submitters Loeys-Dietz syndrome ⚠
  • p.Val373Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val407Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val65Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val95Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.1130+5A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1131-1G>A Single submitter
  • c.1131-1G>C Single submitter
  • c.1131-3T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1255+7del Single submitter Loeys-Dietz syndrome
  • c.1256-1G>C Single submitter Loeys-Dietz syndrome 1
  • c.1256-2A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1386+6del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1387-11T>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.343+5G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.344-15G>A Single submitter Loeys-Dietz syndrome
  • c.344-74del Single submitter Loeys-Dietz syndrome
  • c.575-4_575-3dup Single submitter Loeys-Dietz syndrome
  • c.70_97+13del Single submitter
  • c.70_97+13dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.752_806-1129del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.76_97+13dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.805+5G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.805+7_805+17del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.806-2A>C Single submitter Loeys-Dietz syndrome
  • c.806-34_806-13del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.95_97+14dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.97+2_97+35dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.97+3G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.97+6C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.974-3del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.98-14_98-11del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.98-6_98-5del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.*1080A>C Single submitter Loeys-Dietz syndrome 1
  • c.*1159T>G Single submitter Loeys-Dietz syndrome 1
  • c.*1240G>A Single submitter Loeys-Dietz syndrome 1
  • c.*1343T>C Single submitter Loeys-Dietz syndrome 1
  • c.*1759C>A Single submitter Loeys-Dietz syndrome 1
  • c.*1772A>C Single submitter Loeys-Dietz syndrome 1
  • c.*1792C>A Single submitter Loeys-Dietz syndrome 1
  • c.*1910A>G Single submitter Loeys-Dietz syndrome 1
  • c.*1959G>T Single submitter Loeys-Dietz syndrome 1
  • c.*2095T>G Single submitter Loeys-Dietz syndrome 1
  • c.*2101T>G Single submitter Loeys-Dietz syndrome 1
  • c.*2290T>C Single submitter Loeys-Dietz syndrome 1
  • c.*2409A>G Single submitter Loeys-Dietz syndrome 1
  • c.*2411G>C Single submitter Loeys-Dietz syndrome 1
  • c.*247T>C Single submitter Loeys-Dietz syndrome 1
  • c.*250T>A Single submitter Loeys-Dietz syndrome 1
  • c.*2554A>T Single submitter Loeys-Dietz syndrome 1
  • c.*2846A>G Single submitter Loeys-Dietz syndrome 1
  • c.*2943A>G Single submitter Loeys-Dietz syndrome 1
  • c.*3059A>G Single submitter Loeys-Dietz syndrome 1
  • c.*3095A>G Single submitter Loeys-Dietz syndrome 1
  • c.*311G>A Single submitter Loeys-Dietz syndrome 1
  • c.*3150C>T Single submitter Loeys-Dietz syndrome 1
  • c.*3314A>G Single submitter Loeys-Dietz syndrome 1
  • c.*339G>T Single submitter Loeys-Dietz syndrome 1
  • c.*3482C>G Single submitter Loeys-Dietz syndrome 1
  • c.*3550del Single submitter
  • c.*3567G>A Single submitter Loeys-Dietz syndrome 1
  • c.*372T>C Single submitter Loeys-Dietz syndrome 1
  • c.*3779C>T Single submitter Loeys-Dietz syndrome 1
  • c.*3790C>T Single submitter Loeys-Dietz syndrome 1
  • c.*3839A>C Single submitter Loeys-Dietz syndrome 1
  • c.*4040T>A Single submitter Loeys-Dietz syndrome 1
  • c.*408C>T Single submitter Loeys-Dietz syndrome 1
  • c.*4219G>A Single submitter Loeys-Dietz syndrome 1
  • c.*4278C>T Single submitter Loeys-Dietz syndrome 1
  • c.*4293A>G Single submitter Loeys-Dietz syndrome 1
  • c.*4295C>T Single submitter Loeys-Dietz syndrome 1
  • c.*4356A>G Single submitter Loeys-Dietz syndrome 1
  • c.*4366A>G Single submitter Loeys-Dietz syndrome 1
  • c.*4445C>G Single submitter Loeys-Dietz syndrome 1
  • c.*456G>T Single submitter Loeys-Dietz syndrome 1
  • c.*469T>C Single submitter Loeys-Dietz syndrome 1
  • c.*502T>G Single submitter Loeys-Dietz syndrome 1
  • c.*5A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.*913C>T Single submitter Loeys-Dietz syndrome 1
  • p.Ala127Ser Single submitter Loeys-Dietz syndrome ⚠
  • p.Ala131Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala18Ser Single submitter Ehlers-Danlos syndrome ⚠
  • p.Ala202Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala202Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala20fs Single submitter
  • p.Ala22_Ala26dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala230Asp Single submitter ⚠
  • p.Ala24_Leu27del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala25_Leu27del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala25Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala26_Leu27insAlaAlaAlaAlaAlaAla Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala264Glu Single submitter ⚠
  • p.Ala264Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala306Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala306Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala310Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala31Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala31Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala350Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala350Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala350Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala355Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala361Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala380Phe Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala468Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala468Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠