TGFB2 — 842 ClinVar variants

All ClinVar germline TGFB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 314 flagged for review →

60 Pathogenic · 17 Pathogenic/Likely pathogenic · 39 Likely pathogenic · 31 Conflicting · 34 Benign · 20 Benign/Likely benign · 230 Likely benign · 411 Uncertain significance

Full TGFB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 314

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.

TGFB2 p.Arg311Lys Likely pathogenic Single submitter

Predictors agree, ClinVar conflicts 16

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

TGFB2 p.Arg165Trp Conflicting Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Arg183Cys Conflicting Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Asn143Ser Conflicting Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Asn274Thr Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Asp186Asn Conflicting Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Asp95Glu Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Cys350Tyr Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Gly340Glu Conflicting Single submitter
TGFB2-related disorder
TGFB2 p.His13Asn Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Pro119Leu Conflicting Single submitter
proteinuria
TGFB2 p.Pro119Ser Conflicting Single submitter
TGFB2 p.Thr258Ile Conflicting Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Thr278Ile Conflicting Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Val134Ile Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Val381Met Conflicting Single submitter
Inborn genetic diseases
TGFB2 p.Val67Met Conflicting Single submitter
Ehlers-Danlos syndrome

Predicted LoF vs a conflicting call 1

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.

TGFB2 c.1086+1G>A Conflicting Single submitter
TGFB2-related disorder

Predictors lean, ClinVar uncertain 225

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 225

TGFB2 p.Ala136Thr Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ala18Thr Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ala18Val Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ala248Thr Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ala251Ser Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ala343Thr Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ala349Thr Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ala82Thr Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ala82Val Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ala8Thr Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Arg124Lys Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Arg131Gln Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Arg153His Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Arg165Gln Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Arg271Lys Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Arg298Gln Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Arg34His Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Arg84Gln Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Asn405His Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Asp176Asn Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Cys379Phe Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Gln155Lys Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Gln79Arg Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Glu102Gly Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Glu197Lys Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Glu337Lys Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Glu61Lys Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Gly255Asp Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Gly262Ser Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Gly276Arg Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ile129Thr Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ile185Val Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ile324Val Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ile394Thr Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ile407Val Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ile40Asn Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Leu199Phe Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Leu48Arg Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Lys158Asn Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Lys173Arg Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Lys273Arg Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Lys396Gln Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Lys396Glu Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Lys81Arg Uncertain significance Multiple submitters
TGFB2 p.Phe310Tyr Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Phe345Leu Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Pro321Thr Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Pro351Leu Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Pro58Leu Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Pro65Leu Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Pro65Ser Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ser200Ala Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ser20Thr Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ser223Ile Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ser261Asn Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ser52Arg Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ser52Gly Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ser7Thr Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Thr121Ser Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Thr181Ile Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Thr204Ile Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Thr270Ser Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Trp198Cys Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Tyr259Asp Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Tyr367Cys Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Val313Leu Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ala147Thr Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ala147Val Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Ala18Ser Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Ala248Val Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Ala376Asp Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ala376Ser Uncertain significance Single submitter
TGFB2 p.Ala87Val Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Ala8Ser Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Arg153Gly Uncertain significance Single submitter
TGFB2 p.Arg153Pro Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Arg249Lys Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Arg299Pro Uncertain significance Single submitter
TGFB2 p.Arg328Lys Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Arg328Ser Uncertain significance Single submitter
TGFB2 p.Arg328Thr Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Arg36Gly Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Arg41Cys Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Arg41Pro Uncertain significance Single submitter
TGFB2 p.Arg85Lys Uncertain significance Single submitter
Ehlers-Danlos syndrome
TGFB2 p.Asn312Ser Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Asn368Asp Uncertain significance Single submitter
TGFB2 p.Asp186Glu Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Asp215Asn Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Asp215Glu Uncertain significance Single submitter
TGFB2 p.Asp254Asn Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Asp263Glu Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Asp263Tyr Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Asp325Asn Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Asp329Gly Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Asp329Tyr Uncertain significance Single submitter
TGFB2 p.Asp56Glu Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Cys24Phe Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Cys24Trp Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Cys317Arg Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Cys317Ser Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Cys346Phe Uncertain significance Single submitter
TGFB2 p.Cys350Arg Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Cys380Tyr Uncertain significance Single submitter
TGFB2 p.Cys411Trp Uncertain significance Single submitter
TGFB2 p.Cys413Arg Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Cys4Arg Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Gln155Arg Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Gln164Arg Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Gln264Arg Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Gln264His Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Gln294Arg Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Gln295Arg Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Gln79Leu Uncertain significance Single submitter
TGFB2 p.Gln79Pro Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Glu102Val Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Glu138Asp Uncertain significance Single submitter
TGFB2 p.Glu148Asp Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Glu373Gly Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Glu386Gln Uncertain significance Single submitter
TGFB2 p.Glu38Gln Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Glu401Gly Uncertain significance Single submitter
Isolated thoracic aortic aneurysm
TGFB2 p.Glu55Ala Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Glu55Asp Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Glu55Gly Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Glu59Gly Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Glu62Ala Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Glu90Asp Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Glu90Gln Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Glu96Gln Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Glu96Lys Uncertain significance Single submitter
TGFB2 p.Gly219Glu Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Gly348Glu Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Gly42Glu Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.His13Arg Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.His208Asp Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.His208Tyr Uncertain significance Single submitter
TGFB2 p.His212Arg Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.His213Arg Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.His213Tyr Uncertain significance Single submitter
TGFB2 p.His2Arg Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.His360Tyr Uncertain significance Single submitter
TGFB2 p.Ile129Met Uncertain significance Single submitter
TGFB2 p.Ile129Val Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Ile185Leu Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ile222Arg Uncertain significance Single submitter
TGFB2 p.Ile222Met Uncertain significance Single submitter
TGFB2 p.Ile267Met Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Ile324Thr Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Ile37Met Uncertain significance Single submitter
Loeys-Dietz syndrome 4

Predictors split 71

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

TGFB2 p.Ala306Glu Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Arg183His Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Arg298Trp Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Asp28Gly Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Cys229Phe Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Cys89Arg Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Glu247Lys Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ile70Thr Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Leu322Phe Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Leu330Val Uncertain significance Multiple submitters
Ehlers-Danlos syndrome
TGFB2 p.Leu6Pro Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Lys221Asn Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Lys327Asn Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Lys333Asn Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Lys412Thr Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Pro227Ser Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Pro233Ser Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Pro279Ser Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Pro64Leu Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ser365Gly Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Ser73Gly Likely benign Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Thr358Ala Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Tyr123Cys Uncertain significance Multiple submitters
Loeys-Dietz syndrome 4
TGFB2 p.Val207Leu Benign/Likely benign Multiple submitters
Ehlers-Danlos syndrome
TGFB2 p.Ala100Asp Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Ala100Pro Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ala159Thr Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ala39Val Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Ala88Pro Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Arg150Lys Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Arg320His Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Arg328Gly Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Asp305Glu Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Asp357Gly Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Asp384His Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Asp384Val Uncertain significance Single submitter
TGFB2 p.Cys226Tyr Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Cys89Ser Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Glu102Asp Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Glu209Lys Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Glu244Val Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Glu292Lys Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Gly252Asp Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Gly252Val Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.His213Leu Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.His225Leu Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ile239Asn Uncertain significance Single submitter
Cardiovascular phenotype
TGFB2 p.Ile239Ser Uncertain significance Single submitter
TGFB2 p.Leu50Val Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Lys242Glu Uncertain significance Single submitter
TGFB2 p.Lys277Glu Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Phe32Leu Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Pro227Leu Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Pro372Arg Uncertain significance Single submitter
TGFB2 p.Pro398Ala Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Ser135Leu Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Ser187Asn Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Ser20Asn Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Ser223Asn Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Ser365Asn Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Ser377Pro Uncertain significance Single submitter
TGFB2 p.Ser382Cys Uncertain significance Single submitter
TGFB2 p.Ser46Asn Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Thr204Ser Uncertain significance Single submitter
TGFB2 p.Thr230Ala Uncertain significance Single submitter
TGFB2 p.Thr51Ile Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Tyr289Cys Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Tyr308Cys Uncertain significance Single submitter
Loeys-Dietz syndrome 4
TGFB2 p.Tyr323His Uncertain significance Single submitter
TGFB2 p.Val207Ala Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
TGFB2 p.Val207Phe Uncertain significance Single submitter
Loeys-Dietz syndrome 4

All TGFB2 variants

Pathogenic 60

p.Asn274fs Multiple submitters Loeys-Dietz syndrome 4
p.Glu195Ter Multiple submitters Loeys-Dietz syndrome 4
p.Glu66fs Multiple submitters Loeys-Dietz syndrome 4
p.Leu45fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Lys146fs Multiple submitters TGFB2-related disorder
p.Lys49Ter Multiple submitters Loeys-Dietz syndrome 4
p.Pro119fs Multiple submitters
p.Tyr308Ter Multiple submitters Loeys-Dietz syndrome 4
p.Tyr341Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Tyr99Ter Multiple submitters Loeys-Dietz syndrome 4
c.595_1245del Single submitter Loeys-Dietz syndrome 4
c.643+1G>A Single submitter
p.Arg153fs Single submitter Loeys-Dietz syndrome 4
p.Arg290fs Single submitter Loeys-Dietz syndrome 4
p.Arg298fs Single submitter Loeys-Dietz syndrome 4
p.Arg320fs Single submitter Loeys-Dietz syndrome 4
p.Arg85fs Single submitter Loeys-Dietz syndrome 4
p.Asp305fs Single submitter Loeys-Dietz syndrome 4
p.Asp30fs Single submitter Loeys-Dietz syndrome 4
p.Asp329fs Single submitter Loeys-Dietz syndrome 4
p.Cys226Ter Single submitter Loeys-Dietz syndrome 4
p.Cys229Ter Single submitter Loeys-Dietz syndrome 4
p.Cys4fs Single submitter Loeys-Dietz syndrome 4
p.Gln164Ter Single submitter Loeys-Dietz syndrome 4
p.Gln314Ter Single submitter
p.Gln43Ter Single submitter Loeys-Dietz syndrome 4
p.Gln79Ter Single submitter Familial aortopathy
p.Glu197Ter Single submitter Loeys-Dietz syndrome 4
p.Glu292fs Single submitter Loeys-Dietz syndrome 4
p.Glu80fs Single submitter Loeys-Dietz syndrome 4
p.Glu90Ter Single submitter Loeys-Dietz syndrome 4
p.Glu96_Glu97delinsAspSerSerTer Single submitter Familial aortopathy
p.Gly219fs Single submitter Loeys-Dietz syndrome 4
p.Gly219Ter Single submitter Loeys-Dietz syndrome 4
p.Gly331fs Single submitter Loeys-Dietz syndrome 4
p.Gly348Arg Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Gly348fs Single submitter Ehlers-Danlos syndrome
p.His212fs Single submitter
p.Ile267fs Single submitter
p.Ile68fs Single submitter Loeys-Dietz syndrome 4
p.Leu77fs Single submitter Inborn genetic diseases
p.Lys101Ter Single submitter Loeys-Dietz syndrome 4
p.Lys301fs Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Phe111fs Single submitter Loeys-Dietz syndrome 4
p.Phe149fs Single submitter Loeys-Dietz syndrome 4
p.Phe9_Leu10insTer Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Pro338His Single submitter Loeys-Dietz syndrome 4
p.Ser135Ter Single submitter Loeys-Dietz syndrome 4
p.Thr256fs Single submitter Loeys-Dietz syndrome 4
p.Thr260fs Single submitter Loeys-Dietz syndrome 4
p.Trp210Ter Single submitter TGFB2-related disorder
p.Trp354fs Single submitter Loeys-Dietz syndrome 4
p.Trp354Ter Single submitter Loeys-Dietz syndrome 4
p.Tyr126fs Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Tyr341fs Single submitter Loeys-Dietz syndrome 4
p.Tyr57Ter Single submitter Loeys-Dietz syndrome 4
p.Tyr71Ter Single submitter
p.Val15fs Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Val63fs Single submitter Loeys-Dietz syndrome 4
p.Pro338Thr No assertion criteria atrial septal defect 1

Pathogenic/Likely pathogenic 17

c.346+1G>A Multiple submitters Loeys-Dietz syndrome 4
c.932+1G>A Multiple submitters Loeys-Dietz syndrome 4
c.933-1G>A Multiple submitters Loeys-Dietz syndrome 4
p.Arg131Ter Multiple submitters Loeys-Dietz syndrome 4
p.Arg150fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Arg193fs Multiple submitters Loeys-Dietz syndrome 4
p.Arg299Gln Multiple submitters Loeys-Dietz syndrome 4
p.Arg299Trp Multiple submitters TGFB2-related disorder
p.Arg302Cys Multiple submitters Loeys-Dietz syndrome
p.Arg302His Multiple submitters TGFB2-related disorder
p.Arg302Ser Multiple submitters Loeys-Dietz syndrome 4
p.Arg320Cys Multiple submitters TGFB2-related disorder
p.Asp357fs Multiple submitters Loeys-Dietz syndrome 4
p.Gln182Ter Multiple submitters Loeys-Dietz syndrome 4
p.Glu92Ter Multiple submitters Loeys-Dietz syndrome 4
p.Lys272Ter Multiple submitters Loeys-Dietz syndrome 4
p.Tyr98Ter Multiple submitters TGFB2-related disorder

Likely pathogenic 39

c.1086+2T>C Multiple submitters Familial aortopathy
c.346+1G>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
c.510+1G>A Multiple submitters Loeys-Dietz syndrome 4
p.Gln155Ter Multiple submitters TGFB2-related disorder
c.346+1G>C Single submitter TGFB2-related disorder
c.644-1G>C Single submitter Loeys-Dietz syndrome 4
c.644-2A>G Single submitter
c.754+1G>A Single submitter Loeys-Dietz syndrome 4
c.755-5_755-2delinsG Single submitter Loeys-Dietz syndrome 4
c.921_932+4del Single submitter Loeys-Dietz syndrome 4
c.933-2A>C Single submitter Loeys-Dietz syndrome 4
p.Ala343fs Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Arg216fs Single submitter
p.Arg311Lys Single submitter ⚠
p.Arg328_Asp329insTer Single submitter Loeys-Dietz syndrome 4
p.Asn140fs Single submitter
p.Asn72fs Single submitter Loeys-Dietz syndrome 4
p.Cys318Phe Single submitter
p.Cys380Phe Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Cys380Trp Single submitter
p.Cys413Ter Single submitter
p.Gln294Ter Single submitter TGFB2-related disorder
p.Glu209Ter Single submitter
p.Glu337Ter Single submitter TGFB2-related disorder
p.His208fs Single submitter Marfan syndrome
p.Leu218fs Single submitter TGFB2-related disorder
p.Leu246fs Single submitter TGFB2-related disorder
p.Leu50fs Single submitter TGFB2-related disorder
p.Lys273Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Lys35fs Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Met29fs Single submitter Loeys-Dietz syndrome 4
p.Pro54fs Single submitter
p.Ser234fs Single submitter Loeys-Dietz syndrome 4
p.Ser243fs Single submitter Loeys-Dietz syndrome 4
p.Ser94fs Single submitter TGFB2-related disorder
p.Trp198Ter Single submitter Tall stature
p.Trp332Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Tyr367Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
c.511-1G>C No assertion criteria TGFB2-related disorder

Conflicting classifications of pathogenicity 31

c.1086+1G>A Single submitter TGFB2-related disorder ⚠
c.1087-13T>G Single submitter Loeys-Dietz syndrome 4
c.510+9C>T Single submitter Loeys-Dietz syndrome 4
c.511-10del Single submitter Loeys-Dietz syndrome 4
c.644-4C>T Single submitter Loeys-Dietz syndrome 4
c.754+7A>G Single submitter Loeys-Dietz syndrome 4
c.933-6T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
c.-620G>A Single submitter Loeys-Dietz syndrome 4
p.Ala100_Tyr104del Single submitter Loeys-Dietz syndrome 4
p.Ala306= Single submitter Loeys-Dietz syndrome 4
p.Arg165Trp Single submitter Loeys-Dietz syndrome 4 ⚠
p.Arg183Cys Single submitter Loeys-Dietz syndrome 4 ⚠
p.Asn143Ser Single submitter Loeys-Dietz syndrome 4 ⚠
p.Asn274Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Asp186Asn Single submitter Loeys-Dietz syndrome 4 ⚠
p.Asp95Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Cys350Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Cys380= Single submitter Loeys-Dietz syndrome 4
p.Glu292= Single submitter Loeys-Dietz syndrome 4
p.Gly196= Single submitter Ehlers-Danlos syndrome
p.Gly340Glu Single submitter TGFB2-related disorder ⚠
p.His13Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Leu353Val Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Lys101= Single submitter Loeys-Dietz syndrome 4
p.Pro119Leu Single submitter proteinuria ⚠
p.Pro119Ser Single submitter ⚠
p.Thr258Ile Single submitter Loeys-Dietz syndrome 4 ⚠
p.Thr278Ile Single submitter Loeys-Dietz syndrome 4 ⚠
p.Val134Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Val381Met Single submitter Inborn genetic diseases ⚠
p.Val67Met Single submitter Ehlers-Danlos syndrome ⚠

Benign 34

c.754+71T>C Multiple submitters
c.933-7_933-6del Multiple submitters Loeys-Dietz syndrome 4
c.-677T>C Multiple submitters Loeys-Dietz syndrome 4
c.-784A>C Multiple submitters Loeys-Dietz syndrome 4
c.*1310C>T Multiple submitters Loeys-Dietz syndrome 4
c.*1624T>A Multiple submitters Loeys-Dietz syndrome 4
c.*2008G>A Multiple submitters Loeys-Dietz syndrome 4
c.*201A>T Multiple submitters Loeys-Dietz syndrome 4
c.*2431C>G Multiple submitters Loeys-Dietz syndrome 4
c.*2839G>A Multiple submitters Loeys-Dietz syndrome 4
c.*3196C>T Multiple submitters Loeys-Dietz syndrome 4
c.*747A>C Multiple submitters Loeys-Dietz syndrome 4
c.1087-207G>A Single submitter
c.1087-276dup Single submitter
c.754+333G>T Single submitter
c.755-5dup Single submitter Loeys-Dietz syndrome 4
c.932+213A>G Single submitter
c.932+247G>A Single submitter
c.933-251C>A Single submitter
c.-113_-110dup Single submitter
c.-714A>C Single submitter Loeys-Dietz syndrome 4
c.-746G>T Single submitter Loeys-Dietz syndrome 4
c.*1198A>G Single submitter Loeys-Dietz syndrome 4
c.*1315T>G Single submitter Loeys-Dietz syndrome 4
c.*135G>A Single submitter Loeys-Dietz syndrome 4
c.*1389C>T Single submitter Loeys-Dietz syndrome 4
c.*1443T>A Single submitter Loeys-Dietz syndrome 4
c.*1585C>G Single submitter Loeys-Dietz syndrome 4
c.*1684G>C Single submitter Loeys-Dietz syndrome 4
c.*2108G>A Single submitter Loeys-Dietz syndrome 4
c.*2269T>C Single submitter Loeys-Dietz syndrome 4
c.*2950G>A Single submitter Loeys-Dietz syndrome 4
c.*720T>C Single submitter Loeys-Dietz syndrome 4
c.*969T>C Single submitter Loeys-Dietz syndrome 4

Benign/Likely benign 20

c.347-14C>G Multiple submitters Loeys-Dietz syndrome 4
c.510+12TTG[11] Multiple submitters Loeys-Dietz syndrome 4
c.510+12TTG[12] Multiple submitters Loeys-Dietz syndrome 4
c.510+12TTG[13] Multiple submitters Loeys-Dietz syndrome 4
c.510+12TTG[9] Multiple submitters Loeys-Dietz syndrome 4
c.643+7A>C Multiple submitters Ehlers-Danlos syndrome
c.754+10dup Multiple submitters Loeys-Dietz syndrome 4
c.933-6del Multiple submitters Loeys-Dietz syndrome 4
c.933-8_933-6del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
c.-1230G>A Multiple submitters Loeys-Dietz syndrome 4
c.-1302A>G Multiple submitters Loeys-Dietz syndrome 4
c.-45del Multiple submitters Loeys-Dietz syndrome 4
c.-5A>T Multiple submitters Ehlers-Danlos syndrome
c.*39G>A Multiple submitters Loeys-Dietz syndrome 4
p.Arg91His Multiple submitters Ehlers-Danlos syndrome
p.Cys413= Multiple submitters Cardiovascular phenotype
p.Glu167= Multiple submitters Loeys-Dietz syndrome 4
p.Glu38= Multiple submitters connective tissue disorder
p.Pro119= Multiple submitters connective tissue disorder
p.Val207Leu Multiple submitters Ehlers-Danlos syndrome ⚠

Likely benign 230

c.1086+20G>C Multiple submitters Loeys-Dietz syndrome 4
c.346+198T>G Multiple submitters
c.510+12TTG[14] Multiple submitters Loeys-Dietz syndrome 4
c.510+12TTG[15] Multiple submitters Loeys-Dietz syndrome 4
c.510+12TTG[7] Multiple submitters Loeys-Dietz syndrome 4
c.510+12TTG[8] Multiple submitters Loeys-Dietz syndrome 4
c.511-127C>A Multiple submitters
c.-288A>T Multiple submitters Loeys-Dietz syndrome 4
c.*1128G>A Multiple submitters Loeys-Dietz syndrome 4
c.*2188T>C Multiple submitters Loeys-Dietz syndrome 4
c.*2564A>G Multiple submitters Loeys-Dietz syndrome 4
p.Ala374= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ala39= Multiple submitters Loeys-Dietz syndrome 4
p.Ala87= Multiple submitters Loeys-Dietz syndrome 4
p.Arg216= Multiple submitters Loeys-Dietz syndrome 4
p.Arg249= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Arg328= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Arg36= Multiple submitters Loeys-Dietz syndrome 4
p.Arg84= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Asn312= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Asp133= Multiple submitters Loeys-Dietz syndrome 4
p.Cys4Tyr Multiple submitters Loeys-Dietz syndrome 4
p.Gln294= Multiple submitters Loeys-Dietz syndrome 4
p.Gln314= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Glu102= Multiple submitters Loeys-Dietz syndrome 4
p.Glu62= Multiple submitters Loeys-Dietz syndrome 4
p.Glu97= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.His336= Multiple submitters Loeys-Dietz syndrome 4
p.Ile171= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Leu14= Multiple submitters Loeys-Dietz syndrome 4
p.Leu168= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Leu19= Multiple submitters Loeys-Dietz syndrome 4
p.Leu319= Multiple submitters Loeys-Dietz syndrome 4
p.Leu330= Multiple submitters Loeys-Dietz syndrome 4
p.Leu366= Multiple submitters Loeys-Dietz syndrome 4
p.Leu388= Multiple submitters Loeys-Dietz syndrome 4
p.Lys139= Multiple submitters Loeys-Dietz syndrome 4
p.Phe152= Multiple submitters Loeys-Dietz syndrome 4
p.Phe201= Multiple submitters Loeys-Dietz syndrome 4
p.Pro110= Multiple submitters Loeys-Dietz syndrome 4
p.Pro351= Multiple submitters Loeys-Dietz syndrome 4
p.Ser114= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ser275Gly Multiple submitters Loeys-Dietz syndrome 4
p.Ser365= Multiple submitters Loeys-Dietz syndrome 4
p.Ser73Gly Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Thr204= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Thr266= Multiple submitters Loeys-Dietz syndrome 4
p.Thr296= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Tyr123= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Tyr99= Multiple submitters Loeys-Dietz syndrome 4
p.Val203= Multiple submitters Loeys-Dietz syndrome 4
p.Val63= Multiple submitters Loeys-Dietz syndrome 4
c.1086+10C>A Single submitter Loeys-Dietz syndrome 4
c.1086+10C>T Single submitter Loeys-Dietz syndrome 4
c.1086+11A>C Single submitter Loeys-Dietz syndrome 4
c.1086+13C>A Single submitter Loeys-Dietz syndrome 4
c.1086+13C>T Single submitter Loeys-Dietz syndrome 4
c.1086+14_1086+17dup Single submitter Loeys-Dietz syndrome 4
c.1086+15T>A Single submitter Loeys-Dietz syndrome 4
c.1086+19T>C Single submitter
c.1087-10G>A Single submitter Loeys-Dietz syndrome 4
c.1087-12G>C Single submitter Loeys-Dietz syndrome 4
c.1087-14C>T Single submitter
c.1087-4T>C Single submitter Loeys-Dietz syndrome 4
c.346+12T>C Single submitter Loeys-Dietz syndrome 4
c.346+12T>G Single submitter Loeys-Dietz syndrome 4
c.346+16454G>A Single submitter
c.346+20T>A Single submitter Loeys-Dietz syndrome 4
c.346+8C>G Single submitter Loeys-Dietz syndrome 4
c.346+8C>T Single submitter
c.347-15C>A Single submitter Loeys-Dietz syndrome 4
c.347-18T>A Single submitter Loeys-Dietz syndrome 4
c.347-18T>C Single submitter
c.510+11T>G Single submitter
c.510+12TTG[16] Single submitter Loeys-Dietz syndrome 4
c.510+12TTG[6] Single submitter Loeys-Dietz syndrome 4
c.510+17G>T Single submitter Loeys-Dietz syndrome 4
c.510+53CT[10] Single submitter
c.510+9C>A Single submitter Loeys-Dietz syndrome 4
c.511-15C>T Single submitter Loeys-Dietz syndrome 4
c.511-17C>G Single submitter Loeys-Dietz syndrome 4
c.511-18G>A Single submitter Loeys-Dietz syndrome 4
c.511-73G>C Single submitter
c.511-8C>T Single submitter Loeys-Dietz syndrome 4
c.511-9C>A Single submitter Loeys-Dietz syndrome 4
c.511-9C>T Single submitter Loeys-Dietz syndrome 4
c.643+11_643+12del Single submitter Loeys-Dietz syndrome 4
c.643+13T>G Single submitter Loeys-Dietz syndrome 4
c.643+9C>A Single submitter Loeys-Dietz syndrome 4
c.644-14_644-13del Single submitter Loeys-Dietz syndrome 4
c.644-16A>T Single submitter Loeys-Dietz syndrome 4
c.644-17G>C Single submitter Loeys-Dietz syndrome 4
c.644-18T>A Single submitter
c.644-20_644-18del Single submitter Loeys-Dietz syndrome 4
c.754+14G>A Single submitter Loeys-Dietz syndrome 4
c.754+18A>G Single submitter Loeys-Dietz syndrome 4
c.754+58A>G Single submitter
c.755-17A>C Single submitter Loeys-Dietz syndrome 4
c.755-18C>T Single submitter Loeys-Dietz syndrome 4
c.755-206C>A Single submitter
c.755-6T>C Single submitter Loeys-Dietz syndrome 4
c.932+16G>A Single submitter Loeys-Dietz syndrome 4
c.933-14_933-13insG Single submitter Loeys-Dietz syndrome 4
c.933-18T>C Single submitter Loeys-Dietz syndrome 4
c.933-9T>C Single submitter Loeys-Dietz syndrome 4
c.-1016C>T Single submitter Loeys-Dietz syndrome 4
c.-16T>C Single submitter
c.-45dup Single submitter
c.-4A>C Single submitter
c.-6T>A Single submitter
c.*1233T>A Single submitter Loeys-Dietz syndrome 4
c.*1273T>C Single submitter Loeys-Dietz syndrome 4
c.*1502T>C Single submitter Loeys-Dietz syndrome 4
c.*15T>C Single submitter
c.*21G>T Single submitter Loeys-Dietz syndrome 4
c.*9G>A Single submitter
p.Ala147= Single submitter Loeys-Dietz syndrome 4
p.Ala159= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Ala18= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Ala194= Single submitter Loeys-Dietz syndrome 4
p.Ala307= Single submitter Loeys-Dietz syndrome 4
p.Ala347= Single submitter Loeys-Dietz syndrome 4
p.Arg131= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Arg153= Single submitter Loeys-Dietz syndrome 4
p.Arg290= Single submitter
p.Arg299= Single submitter Loeys-Dietz syndrome 4
p.Arg302= Single submitter Loeys-Dietz syndrome 4
p.Arg41= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Arg85= Single submitter Loeys-Dietz syndrome 4
p.Arg93= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Asn140= Single submitter Loeys-Dietz syndrome 4
p.Asn156= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Asn217= Single submitter Loeys-Dietz syndrome 4
p.Asn241= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Asn344= Single submitter Loeys-Dietz syndrome 4
p.Asn368= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Asn405= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Asp28= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Asp325= Single submitter Loeys-Dietz syndrome 4
p.Asp357= Single submitter Loeys-Dietz syndrome 4
p.Asp384= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Asp76= Single submitter Loeys-Dietz syndrome 4
p.Cys346= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Gln164= Single submitter Loeys-Dietz syndrome 4
p.Gln182= Single submitter Loeys-Dietz syndrome 4
p.Gln264= Single submitter Loeys-Dietz syndrome 4
p.Gln295= Single submitter Loeys-Dietz syndrome 4
p.Gln383= Single submitter Loeys-Dietz syndrome 4
p.Gln43= Single submitter Loeys-Dietz syndrome 4
p.Glu337= Single submitter
p.Glu59= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Glu61= Single submitter Loeys-Dietz syndrome 4
p.Glu96= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Gly276= Single submitter Loeys-Dietz syndrome 4
p.Gly340= Single submitter
p.Gly395= Single submitter Loeys-Dietz syndrome 4
p.Gly42= Single submitter Loeys-Dietz syndrome 4
p.His13= Single submitter Loeys-Dietz syndrome 4
p.His2= Single submitter
p.His208= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.His225= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.His360= Single submitter Loeys-Dietz syndrome 4
p.Ile11Leu Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Ile185= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Ile253= Single submitter Loeys-Dietz syndrome 4
p.Ile37= Single submitter Loeys-Dietz syndrome 4
p.Ile68= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Leu10= Single submitter Loeys-Dietz syndrome 4
p.Leu144= Single submitter Loeys-Dietz syndrome 4
p.Leu199= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Leu21= Single submitter Loeys-Dietz syndrome 4
p.Leu27= Single submitter Loeys-Dietz syndrome 4
p.Leu282= Single submitter
p.Leu285= Single submitter Loeys-Dietz syndrome 4
p.Leu286= Single submitter Loeys-Dietz syndrome 4
p.Leu304= Single submitter Loeys-Dietz syndrome 4
p.Leu45= Single submitter Loeys-Dietz syndrome 4
p.Leu48= Single submitter Loeys-Dietz syndrome 4
p.Leu77= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Leu78= Single submitter Loeys-Dietz syndrome 4
p.Lys221= Single submitter Loeys-Dietz syndrome 4
p.Lys265= Single submitter Loeys-Dietz syndrome 4
p.Lys272= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Lys409= Single submitter Loeys-Dietz syndrome 4
p.Lys47= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Lys49= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Lys81= Single submitter Loeys-Dietz syndrome 4
p.Phe111= Single submitter Loeys-Dietz syndrome 4
p.Phe310= Single submitter Loeys-Dietz syndrome 4
p.Phe32= Single submitter Loeys-Dietz syndrome 4
p.Phe326= Single submitter Loeys-Dietz syndrome 4
p.Pro109= Single submitter Loeys-Dietz syndrome 4
p.Pro110Ser Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Pro125= Single submitter
p.Pro157= Single submitter connective tissue disorder
p.Pro162= Single submitter Loeys-Dietz syndrome 4
p.Pro233= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Pro240= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Pro279= Single submitter
p.Pro321= Single submitter Loeys-Dietz syndrome 4
p.Pro378= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Pro53= Single submitter Loeys-Dietz syndrome 4
p.Pro54= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Pro58= Single submitter Loeys-Dietz syndrome 4
p.Ser200= Single submitter Loeys-Dietz syndrome 4
p.Ser257= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Ser288= Single submitter Loeys-Dietz syndrome 4
p.Ser361= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Ser410= Single submitter Loeys-Dietz syndrome 4
p.Ser46= Single submitter Loeys-Dietz syndrome 4
p.Ser52= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Ser69= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Thr181= Single submitter Loeys-Dietz syndrome 4
p.Thr258= Single submitter Loeys-Dietz syndrome 4
p.Thr26= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Thr270= Single submitter Loeys-Dietz syndrome 4
p.Thr278= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Thr369= Single submitter Loeys-Dietz syndrome 4
p.Thr389= Single submitter
p.Thr74= Single submitter Loeys-Dietz syndrome 4
p.Tyr308= Single submitter Loeys-Dietz syndrome 4
p.Tyr393= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Tyr57= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Tyr71= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Val134= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Val161= Single submitter Loeys-Dietz syndrome 4
p.Val17= Single submitter Loeys-Dietz syndrome 4
p.Val207= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Val67= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Cys318= No assertion criteria TGFB2-related disorder

Uncertain significance 411

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

c.346+16375G>A Multiple submitters
c.346+4_346+7del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
c.346+5G>A Multiple submitters Loeys-Dietz syndrome 4
c.-338T>A Multiple submitters Loeys-Dietz syndrome 4
c.-644A>G Multiple submitters Loeys-Dietz syndrome 4
c.-679G>A Multiple submitters Loeys-Dietz syndrome 4
c.-699A>C Multiple submitters Loeys-Dietz syndrome 4
c.-96C>A Multiple submitters Loeys-Dietz syndrome 4
c.*1233dup Multiple submitters Loeys-Dietz syndrome 4
c.*1871C>T Multiple submitters Loeys-Dietz syndrome 4
c.*45A>G Multiple submitters Loeys-Dietz syndrome 4
c.*589C>A Multiple submitters Loeys-Dietz syndrome 4
c.*962A>G Multiple submitters Loeys-Dietz syndrome 4
p.Ala136Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala147del Multiple submitters Loeys-Dietz syndrome 4
p.Ala18Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala18Val Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ala248Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala251Ser Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ala306Glu Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ala306Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ala307Pro Multiple submitters Loeys-Dietz syndrome 4
p.Ala343Thr Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ala349Thr Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ala376Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ala82Thr Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ala82Val Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ala8Thr Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Arg124Lys Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Arg131Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg153His Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Arg165Gln Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Arg183His Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Arg271Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg298Gln Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Arg298Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg34His Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Arg84Gln Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Asn405His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Asp176Asn Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Asp28Gly Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Cys229Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Cys379Phe Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Cys413fs Multiple submitters Loeys-Dietz syndrome 4
p.Cys89Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gln155Lys Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Gln79Arg Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Glu102del Multiple submitters Loeys-Dietz syndrome 4
p.Glu102Gly Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Glu197Lys Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Glu247Lys Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Glu337Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Glu61Lys Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Gly255Asp Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Gly262Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gly276Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ile129Thr Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ile185Val Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ile324Val Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ile394Thr Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ile407Val Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ile40Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ile70Thr Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Leu172Phe Multiple submitters Loeys-Dietz syndrome 4
p.Leu199Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Leu304Val Multiple submitters Loeys-Dietz syndrome 4
p.Leu322Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Leu330Val Multiple submitters Ehlers-Danlos syndrome ⚠
p.Leu391_Tyr392insTer Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Leu48Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Leu6Pro Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Lys158Asn Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Lys173Arg Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Lys221Asn Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Lys273Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Lys327Asn Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Lys333Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Lys396Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Lys396Glu Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Lys412Thr Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Lys81Arg Multiple submitters ⚠
p.Met137Thr Multiple submitters Loeys-Dietz syndrome 4
p.Phe310Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Phe345Leu Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Pro227Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Pro233Ser Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Pro279Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Pro321Thr Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Pro351Leu Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Pro58Leu Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Pro64Leu Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Pro65Leu Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Pro65Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ser187Gly Multiple submitters Loeys-Dietz syndrome 4
p.Ser200Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ser20Thr Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ser223Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ser261Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ser365Gly Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ser52Arg Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ser52Gly Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Ser7Thr Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Thr121Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Thr181Ile Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Thr204Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Thr270Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Thr358Ala Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Trp198Cys Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Tyr123Cys Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Tyr259Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Tyr367Cys Multiple submitters Loeys-Dietz syndrome 4 ⚠
p.Val313Leu Multiple submitters Loeys-Dietz syndrome 4 ⚠
c.1086+4A>G Single submitter Loeys-Dietz syndrome 4
c.1087-1G>C Single submitter Loeys-Dietz syndrome 4
c.346+4del Single submitter familial thoracic aortic aneurysm and aortic dissection
c.347-10T>A Single submitter Loeys-Dietz syndrome 4
c.347-215_456dup Single submitter
c.510+12TTG[5] Single submitter Loeys-Dietz syndrome 4
c.510+148T>G Single submitter lung adenocarcinoma
c.511-6C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
c.643+5C>T Single submitter
c.644-5T>C Single submitter
c.754+4A>G Single submitter
c.755-10T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
c.755-14T>G Single submitter Loeys-Dietz syndrome 4
c.932+4A>G Single submitter Loeys-Dietz syndrome 4
c.-101A>G Single submitter Loeys-Dietz syndrome 4
c.-1153G>T Single submitter Loeys-Dietz syndrome 4
c.-1237G>C Single submitter Loeys-Dietz syndrome 4
c.-1249G>A Single submitter Loeys-Dietz syndrome 4
c.-1271A>G Single submitter Loeys-Dietz syndrome 4
c.-1278AAGAGA[3] Single submitter Loeys-Dietz syndrome 4
c.-514T>C Single submitter Loeys-Dietz syndrome 4
c.-540A>T Single submitter Loeys-Dietz syndrome 4
c.-542C>T Single submitter Loeys-Dietz syndrome 4
c.-569T>C Single submitter Loeys-Dietz syndrome 4
c.-616G>A Single submitter Loeys-Dietz syndrome 4
c.-646G>A Single submitter Loeys-Dietz syndrome 4
c.-652GCACAC[3] Single submitter Loeys-Dietz syndrome 4
c.-663C>T Single submitter Loeys-Dietz syndrome 4
c.-682C>G Single submitter Loeys-Dietz syndrome 4
c.-683C>A Single submitter Loeys-Dietz syndrome 4
c.-758G>C Single submitter Loeys-Dietz syndrome 4
c.-794T>C Single submitter Loeys-Dietz syndrome 4
c.*1034A>C Single submitter Loeys-Dietz syndrome 4
c.*1229T>C Single submitter Loeys-Dietz syndrome 4
c.*1271A>G Single submitter Loeys-Dietz syndrome 4
c.*1338T>A Single submitter Loeys-Dietz syndrome 4
c.*1428T>C Single submitter Loeys-Dietz syndrome 4
c.*1431A>C Single submitter Loeys-Dietz syndrome 4
c.*1615T>C Single submitter Loeys-Dietz syndrome 4
c.*193A>C Single submitter Loeys-Dietz syndrome 4
c.*2007C>T Single submitter Loeys-Dietz syndrome 4
c.*2053G>A Single submitter Loeys-Dietz syndrome 4
c.*2089A>C Single submitter Loeys-Dietz syndrome 4
c.*2352T>G Single submitter Loeys-Dietz syndrome 4
c.*2421G>T Single submitter Loeys-Dietz syndrome 4
c.*2496A>G Single submitter Loeys-Dietz syndrome 4
c.*2509G>T Single submitter Loeys-Dietz syndrome 4
c.*2617T>C Single submitter Loeys-Dietz syndrome 4
c.*2980G>C Single submitter Loeys-Dietz syndrome 4
c.*3076G>A Single submitter Loeys-Dietz syndrome 4
c.*3141A>G Single submitter Loeys-Dietz syndrome 4
c.*3193A>G Single submitter Loeys-Dietz syndrome 4
c.*3210C>T Single submitter Loeys-Dietz syndrome 4
c.*338C>T Single submitter Loeys-Dietz syndrome 4
c.*489A>G Single submitter Loeys-Dietz syndrome 4
c.*772C>T Single submitter Loeys-Dietz syndrome 4
c.*782del Single submitter Loeys-Dietz syndrome 4
c.*972A>C Single submitter Loeys-Dietz syndrome 4
p.Ala100Asp Single submitter Loeys-Dietz syndrome 4 ⚠
p.Ala100Gly Single submitter Cardiovascular phenotype
p.Ala100Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala100Ser Single submitter
p.Ala147Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala147Val Single submitter Loeys-Dietz syndrome 4 ⚠
p.Ala159Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala18Ser Single submitter Loeys-Dietz syndrome 4 ⚠
p.Ala248Val Single submitter Loeys-Dietz syndrome 4 ⚠
p.Ala251= Single submitter Loeys-Dietz syndrome 4
p.Ala343= Single submitter Loeys-Dietz syndrome 4
p.Ala376Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala376Ser Single submitter ⚠
p.Ala39Val Single submitter Loeys-Dietz syndrome 4 ⚠
p.Ala87Val Single submitter Loeys-Dietz syndrome 4 ⚠
p.Ala88Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala8Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg150Lys Single submitter Loeys-Dietz syndrome 4 ⚠
p.Arg153Gly Single submitter ⚠
p.Arg153Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg249Gly Single submitter
p.Arg249Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg299Pro Single submitter ⚠
p.Arg320His Single submitter Loeys-Dietz syndrome 4 ⚠
p.Arg328Gly Single submitter Loeys-Dietz syndrome 4 ⚠
p.Arg328Lys Single submitter Loeys-Dietz syndrome 4 ⚠
p.Arg328Ser Single submitter ⚠
p.Arg328Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg34Cys Single submitter Loeys-Dietz syndrome 4
p.Arg362= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Arg362Ser Single submitter
p.Arg36Gly Single submitter Loeys-Dietz syndrome 4 ⚠
p.Arg41Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg41Pro Single submitter ⚠
p.Arg85Lys Single submitter Ehlers-Danlos syndrome ⚠
p.Asn241His Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Asn312Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Asn368Asp Single submitter ⚠
p.Asp186Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Asp205_Ala206del Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Asp215Asn Single submitter Loeys-Dietz syndrome 4 ⚠
p.Asp215Glu Single submitter ⚠
p.Asp254Asn Single submitter Loeys-Dietz syndrome 4 ⚠
p.Asp254Tyr Single submitter Loeys-Dietz syndrome 4
p.Asp263Glu Single submitter Loeys-Dietz syndrome 4 ⚠
p.Asp263Tyr Single submitter Loeys-Dietz syndrome 4 ⚠
p.Asp305Glu Single submitter Loeys-Dietz syndrome 4 ⚠
p.Asp325Asn Single submitter Loeys-Dietz syndrome 4 ⚠
p.Asp329Gly Single submitter Loeys-Dietz syndrome 4 ⚠
p.Asp329Tyr Single submitter ⚠
p.Asp357Gly Single submitter Loeys-Dietz syndrome 4 ⚠
p.Asp384His Single submitter Loeys-Dietz syndrome 4 ⚠
p.Asp384Val Single submitter ⚠
p.Asp56Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Cys226Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Cys228= Single submitter Loeys-Dietz syndrome 4
p.Cys24Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Cys24Trp Single submitter Loeys-Dietz syndrome 4 ⚠
p.Cys317Arg Single submitter Loeys-Dietz syndrome 4 ⚠
p.Cys317Ser Single submitter Loeys-Dietz syndrome 4 ⚠
p.Cys346Phe Single submitter ⚠
p.Cys350Arg Single submitter Loeys-Dietz syndrome 4 ⚠
p.Cys379fs Single submitter
p.Cys380Ter Single submitter Loeys-Dietz syndrome 4
p.Cys380Tyr Single submitter ⚠
p.Cys411Trp Single submitter ⚠
p.Cys413Arg Single submitter Loeys-Dietz syndrome 4 ⚠
p.Cys4Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Cys89Ser Single submitter Loeys-Dietz syndrome 4 ⚠
p.Gln155Arg Single submitter Loeys-Dietz syndrome 4 ⚠
p.Gln164Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gln264Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gln264His Single submitter Loeys-Dietz syndrome 4 ⚠
p.Gln294Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gln295Arg Single submitter Loeys-Dietz syndrome 4 ⚠
p.Gln402Ter Single submitter Loeys-Dietz syndrome 4
p.Gln79Leu Single submitter ⚠
p.Gln79Pro Single submitter Loeys-Dietz syndrome 4 ⚠
p.Glu102Asp Single submitter Loeys-Dietz syndrome 4 ⚠
p.Glu102Val Single submitter Loeys-Dietz syndrome 4 ⚠
p.Glu138Asp Single submitter ⚠
p.Glu148Asp Single submitter Loeys-Dietz syndrome 4 ⚠
p.Glu209Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Glu244Val Single submitter Loeys-Dietz syndrome 4 ⚠
p.Glu245Val Single submitter Loeys-Dietz syndrome 4
p.Glu292Lys Single submitter Loeys-Dietz syndrome 4 ⚠
p.Glu373Gly Single submitter Loeys-Dietz syndrome 4 ⚠
p.Glu386Gln Single submitter ⚠
p.Glu38Gln Single submitter Loeys-Dietz syndrome 4 ⚠
p.Glu38Lys Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Glu401Gly Single submitter Isolated thoracic aortic aneurysm ⚠
p.Glu55Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Glu55Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Glu55Gly Single submitter Loeys-Dietz syndrome 4 ⚠
p.Glu59Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Glu62Ala Single submitter Loeys-Dietz syndrome 4 ⚠
p.Glu66_Val67insGlu Single submitter Loeys-Dietz syndrome 4
p.Glu90Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Glu90Gln Single submitter Loeys-Dietz syndrome 4 ⚠
p.Glu96Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Glu96Lys Single submitter ⚠
p.Gly219Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gly252Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gly252Val Single submitter Loeys-Dietz syndrome 4 ⚠
p.Gly348Glu Single submitter Loeys-Dietz syndrome 4 ⚠
p.Gly42Glu Single submitter Loeys-Dietz syndrome 4 ⚠
p.His13Arg Single submitter Loeys-Dietz syndrome 4 ⚠
p.His208Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.His208Tyr Single submitter ⚠
p.His212Arg Single submitter Loeys-Dietz syndrome 4 ⚠
p.His213Arg Single submitter Loeys-Dietz syndrome 4 ⚠
p.His213Leu Single submitter Loeys-Dietz syndrome 4 ⚠
p.His213Tyr Single submitter ⚠
p.His225Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.His280del Single submitter
p.His2Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.His360Tyr Single submitter ⚠
p.Ile129Met Single submitter ⚠
p.Ile129Val Single submitter Loeys-Dietz syndrome 4 ⚠
p.Ile185Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ile222Arg Single submitter ⚠
p.Ile222Met Single submitter ⚠
p.Ile238= Single submitter Loeys-Dietz syndrome 4
p.Ile238Val Single submitter
p.Ile239Asn Single submitter Cardiovascular phenotype ⚠
p.Ile239Phe Single submitter
p.Ile239Ser Single submitter ⚠
p.Ile253Thr Single submitter TGFB2-related disorder
p.Ile267Met Single submitter Loeys-Dietz syndrome 4 ⚠
p.Ile324Thr Single submitter Loeys-Dietz syndrome 4 ⚠