CBS — 1319 ClinVar variants

All ClinVar germline CBS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 354 flagged for review →

81 Pathogenic · 61 Pathogenic/Likely pathogenic · 131 Likely pathogenic · 87 Conflicting · 67 Benign · 26 Benign/Likely benign · 541 Likely benign · 325 Uncertain significance

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

⚑ Evidence disagreements 354

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 21

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

CBS p.Ala114Val Pathogenic/Likely pathogenic Multiple submitters
homocystinuria
CBS p.Ala226Thr Pathogenic/Likely pathogenic Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg125Gln Pathogenic Multiple submitters
homocystinuria
CBS p.Arg125Trp Pathogenic/Likely pathogenic Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg266Lys Pathogenic/Likely pathogenic Multiple submitters
homocystinuria
CBS p.Asp234Asn Pathogenic/Likely pathogenic Multiple submitters
homocystinuria
CBS p.Ile152Met Pathogenic/Likely pathogenic Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ile278Thr Pathogenic Multiple submitters
connective tissue disorder
CBS p.Pro49Leu Pathogenic/Likely pathogenic Multiple submitters
Autosomal recessive CBS-related disorders
CBS p.Thr262Ala Likely pathogenic Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Thr262Met Pathogenic/Likely pathogenic Multiple submitters
homocystinuria
CBS p.Thr353Met Pathogenic Multiple submitters
homocystinuria
CBS p.Val320Ala Pathogenic/Likely pathogenic Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ala114Ser Likely pathogenic Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ala226Ser Likely pathogenic Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asp47Ala Likely pathogenic Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asp47Asn Likely pathogenic Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.His65Leu Likely pathogenic Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Leu230Gln Likely pathogenic Single submitter
classic homocystinuria
CBS p.Val160Met Likely pathogenic Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Val454Glu Likely pathogenic Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Predictors agree, ClinVar conflicts 23

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

CBS p.Ala155Thr Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ala545Thr Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Arg336Leu Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg439Gln Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg491His Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asn194Ser Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asp120Asn Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asp120Gly Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asp328Asn Conflicting Single submitter
classic homocystinuria
CBS p.Gln526Lys Conflicting Single submitter
classic homocystinuria
CBS p.Glu144Gln Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Glu176Gln Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gly153Arg Conflicting Single submitter
homocystinuria
CBS p.Gly256Ser Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Leu251Pro Conflicting Single submitter
classic homocystinuria
CBS p.Phe99Tyr Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Pro12Ser Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Pro312His Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Pro70Leu Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ser123Arg Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ser23Leu Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Thr191Lys Conflicting Single submitter
CBS p.Val168Met Conflicting Single submitter
homocystinuria

Predictors lean, ClinVar uncertain 116

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

CBS p.Ala226Pro Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ala24Val Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ala8Gly Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ala8Val Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg196Ser Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg224Leu Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg45Gln Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Arg51Lys Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg51Ser Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Cys52Tyr Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Glu131Asp Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Glu283Lys Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Glu399Lys Uncertain significance Multiple submitters
classic homocystinuria
CBS p.Gly26Ala Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Gly453Glu Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gly532Arg Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.His22Arg Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ile286Val Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Lys25Asn Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Lys36Glu Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Met173Arg Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Met250Ile Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Met458Thr Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Met505Val Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Pro282Ser Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Pro70Arg Uncertain significance Multiple submitters
classic homocystinuria
CBS p.Ser117Cys Uncertain significance Multiple submitters
classic homocystinuria
CBS p.Thr5Ala Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Trp208Arg Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Trp208Cys Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Tyr484Phe Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Val356Ala Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Val448Met Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ala237Val Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ala38Thr Uncertain significance Single submitter
CBS p.Ala452Val Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ala536Ser Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ala545Val Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ala60Val Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg125Pro Uncertain significance Single submitter
CBS p.Arg18Ser Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg209Pro Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg527Gln Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg58Gln Uncertain significance Single submitter
CBS p.Asn212Lys Uncertain significance Single submitter
classic homocystinuria
CBS p.Asp309Glu Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Asp35Asn Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asp506Asn Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Asp538His Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asp549Asn Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asp549His Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Cys244Tyr Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Cys370Arg Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gln393His Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gln478His Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Gln550Lys Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Glu329Gln Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Glu404Asp Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gly115Asp Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gly11Arg Uncertain significance Single submitter
CBS p.Gly151Trp Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gly151Val Uncertain significance Single submitter
CBS p.Gly185Glu Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gly20Glu Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gly31Glu Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Gly347Ala Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gly347Cys Uncertain significance Single submitter
CBS p.Gly418Ser Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gly453Trp Uncertain significance Single submitter
classic homocystinuria
CBS p.Gly480Ser Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Gly532Trp Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ile44Met Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ile483Thr Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Leu181Pro Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Leu248Val Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Lys177Asn Uncertain significance Single submitter
CBS p.Lys177Thr Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Lys211Arg Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Lys271Arg Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Lys405Gln Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Lys406Gln Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Lys485Arg Uncertain significance Single submitter
classic homocystinuria
CBS p.Lys75Asn Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Lys94Asn Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Met173Ile Uncertain significance Single submitter
CBS p.Met250Lys Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Met337Arg Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Met337Leu Uncertain significance Single submitter
classic homocystinuria
CBS p.Met505Arg Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Met89Leu Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Met89Lys Uncertain significance Single submitter
CBS p.Phe332Leu Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Pro422Gln Uncertain significance Single submitter
classic homocystinuria
CBS p.Ser175Thr Uncertain significance Single submitter
CBS p.Ser199Pro Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ser19Leu Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ser73Cys Uncertain significance Single submitter
CBS p.Thr313Lys Uncertain significance Single submitter
classic homocystinuria
CBS p.Thr383Ile Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Thr403Lys Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Thr5Asn Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Thr68Ala Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Thr68Ile Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Thr87Ile Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Tyr163Cys Uncertain significance Single submitter
CBS p.Tyr381Cys Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Val10Leu Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Val168Leu Uncertain significance Single submitter
CBS p.Val252Met Uncertain significance Single submitter
classic homocystinuria
CBS p.Asn225Asp Uncertain significance No assertion criteria
classic homocystinuria
CBS p.Met505Thr Uncertain significance No assertion criteria
classic homocystinuria
CBS p.Ser147Ala Uncertain significance No assertion criteria
classic homocystinuria
CBS p.Thr236Ile Uncertain significance No assertion criteria
CBS-related disorder
CBS p.Thr434Asn Uncertain significance No assertion criteria
classic homocystinuria
CBS p.Val10Met Uncertain significance No assertion criteria
classic homocystinuria
CBS p.Val354Met Uncertain significance No assertion criteria
classic homocystinuria

Predictors split 194

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 194

CBS p.Ala183Val Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ala288Ser Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ala288Thr Pathogenic/Likely pathogenic Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ala340Val Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ala357Gly Uncertain significance Multiple submitters
classic homocystinuria
CBS p.Ala361Val Uncertain significance Multiple submitters
classic homocystinuria
CBS p.Ala509Thr Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg132His Uncertain significance Multiple submitters
classic homocystinuria
CBS p.Arg132Ser Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Arg18Cys Benign/Likely benign Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Arg209Gln Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg224Cys Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Arg224His Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg317Gly Pathogenic/Likely pathogenic Multiple submitters
classic homocystinuria
CBS p.Arg336His Pathogenic/Likely pathogenic Multiple submitters
homocystinuria
CBS p.Arg369His Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg379Gln Pathogenic Multiple submitters
homocystinuria
CBS p.Arg389Thr Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Arg413Cys Uncertain significance Multiple submitters
classic homocystinuria
CBS p.Arg413His Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Arg439Trp Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg491Cys Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg527Trp Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg548Gln Benign/Likely benign Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Arg548Trp Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asn228Ser Pathogenic/Likely pathogenic Multiple submitters
homocystinuria
CBS p.Asp249Asn Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asp309Asn Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Asp35Tyr Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asp444Asn Pathogenic/Likely pathogenic Multiple submitters
homocystinuria
CBS p.Glu213Lys Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Glu270Lys Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Glu366Lys Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Glu451Asp Uncertain significance Multiple submitters
classic homocystinuria
CBS p.Glu62Lys Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gly134Ala Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gly134Arg Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Gly442Asp Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Gly471Arg Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Gly522Arg Uncertain significance Multiple submitters
classic homocystinuria
CBS p.His65Arg Pathogenic Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ile142Met Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ile264Thr Uncertain significance Multiple submitters
classic homocystinuria
CBS p.Ile278Ser Likely pathogenic Multiple submitters
classic homocystinuria
CBS p.Leu402Pro Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Leu492Phe Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Leu81Val Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Lys102Asn Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Lys102Gln Benign/Likely benign Multiple submitters
connective tissue disorder
CBS p.Lys108Arg Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Met250Leu Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Met337Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CBS p.Pro138Ser Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Pro200Leu Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Pro290Leu Pathogenic/Likely pathogenic Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Pro2Leu Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Pro475Leu Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Pro74Leu Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Pro78Arg Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ser500Leu Uncertain significance Multiple submitters
classic homocystinuria
CBS p.Thr135Met Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Thr141Met Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Thr296Arg Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Thr318Met Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Thr460Met Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Thr493Met Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Thr495Met Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Val118Met Uncertain significance Multiple submitters
classic homocystinuria
CBS p.Val178Met Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Val180Met Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Val204Met Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Val206Met Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Val371Met Pathogenic/Likely pathogenic Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Val372Ile Uncertain significance Multiple submitters
connective tissue disorder
CBS p.Val533Leu Uncertain significance Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
CBS p.Val534Ile Uncertain significance Multiple submitters
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ala114Thr Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ala130Val Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ala157Thr Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ala158Thr Likely pathogenic Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ala183Gly Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ala226Asp Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ala237Thr Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ala331Val Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ala355Val Conflicting Single submitter
classic homocystinuria
CBS p.Ala361Thr Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ala421Asp Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ala446Val Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ala509Val Uncertain significance Single submitter
CBS p.Ala536Thr Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Arg132Cys Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Arg164His Uncertain significance Single submitter
CBS p.Arg182Gln Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg182Trp Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Arg209Trp Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Arg369Cys Conflicting Single submitter
connective tissue disorder
CBS p.Arg45Trp Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Arg58Trp Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asn194Asp Uncertain significance Single submitter
CBS p.Asn380Ser Uncertain significance Single submitter
CBS p.Asp133Asn Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Asp198Asn Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Asp316Asn Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asp388Asn Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Asp477Glu Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Cys165Gly Pathogenic Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Cys52Ser Likely pathogenic Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gln295Glu Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Gln486Arg Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Glu213Gly Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Glu289Gly Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Glu302Lys Conflicting Single submitter
classic homocystinuria
CBS p.Glu329Asp Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Glu40Asp Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Glu547Val Uncertain significance Single submitter
CBS p.Gly100Ser Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Gly11Trp Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Gly139Arg Conflicting Single submitter
classic homocystinuria
CBS p.Gly348Ser Likely pathogenic Single submitter
CBS p.Gly57Asp Uncertain significance Single submitter
classic homocystinuria
CBS p.His17Asn Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.His513Arg Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.His513Gln Uncertain significance Single submitter
CBS p.Ile127Met Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ile166Leu Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ile167Val Uncertain significance Single submitter
CBS p.Ile286Thr Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Ile373Met Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ile437Thr Uncertain significance Single submitter
CBS p.Ile84Thr Uncertain significance Single submitter
familial thoracic aortic aneurysm and aortic dissection
CBS p.Ile95Thr Conflicting Single submitter
classic homocystinuria
CBS p.Leu101Val Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Leu105Val Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Leu461Arg Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Leu461Phe Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Leu503Val Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Lys359Met Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Lys398Glu Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Lys485Glu Uncertain significance Single submitter
classic homocystinuria
CBS p.Lys72Ile Conflicting Single submitter
connective tissue disorder
CBS p.Met169Leu Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Met250Val Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Met382Val Uncertain significance Single submitter
Cardiovascular phenotype
CBS p.Phe99Leu Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Phe99Ser Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Pro200Arg Uncertain significance Single submitter
CBS p.Pro229Thr Conflicting Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Pro273Ser Uncertain significance Single submitter
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS p.Pro290Gln Likely pathogenic Single submitter
CBS p.Pro422Leu Conflicting Single submitter
classic homocystinuria

All CBS variants

Pathogenic 81

c.1223+1G>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1224-2A>C Multiple submitters homocystinuria
c.1358+1G>A Multiple submitters classic homocystinuria
c.209+1del Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.736+2T>G Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.738del Multiple submitters classic homocystinuria
p.Ala71fs Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Arg125Gln Multiple submitters homocystinuria ⚠
p.Arg336Cys Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Arg379Gln Multiple submitters homocystinuria ⚠
p.Asn228Lys Multiple submitters classic homocystinuria
p.Cys165Tyr Multiple submitters classic homocystinuria
p.Gln243Ter Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gln7fs Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu176Lys Multiple submitters classic homocystinuria
p.Gly116Arg Multiple submitters homocystinuria
p.Gly151Arg Multiple submitters classic homocystinuria
p.Gly307Ser Multiple submitters homocystinuria
p.Gly347Ser Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gly85Arg Multiple submitters classic homocystinuria
p.His65Arg Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ile278Thr Multiple submitters connective tissue disorder ⚠
p.Leu230fs Multiple submitters homocystinuria
p.Lys441Ter Multiple submitters classic homocystinuria
p.Lys523fs Multiple submitters homocystinuria
p.Met126fs Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ser466Ter Multiple submitters classic homocystinuria
p.Ser500fs Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr135fs Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr191Met Multiple submitters homocystinuria
p.Thr353Met Multiple submitters homocystinuria ⚠
p.Trp408fs Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Trp409Ter Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Val10fs Multiple submitters classic homocystinuria
c.1039+1G>T Single submitter homocystinuria
c.1359-2A>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.210-2A>G Single submitter classic homocystinuria
c.452-153_624dup Single submitter classic homocystinuria
c.452-2A>C Single submitter classic homocystinuria
c.532-1G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.532-2A>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.736+1G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.736+2T>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.829_830insACACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCCGCGCCCTCTGCAGA Single submitter homocystinuria
c.829-249_878del Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ala186fs Single submitter classic homocystinuria
p.Asn149fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Asp234fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Asp281fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Asp86fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Cys165Gly Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Cys272fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Cys275Ter Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Cys52Ter Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gln242Ter Single submitter homocystinuria
p.Gln298fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gln515Ter Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gln517fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gln526Ter Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gln528Ter Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu128Ter Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu176Ter Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu40fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu62fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gly274fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gly305Arg Single submitter classic homocystinuria
p.Ile127fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ile143fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ile152fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Leu136fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ser27fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr262Arg Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr521fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr87fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Trp208Ter Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Trp390Ter Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Trp409fs Single submitter classic homocystinuria
p.Val160fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Val252fs Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.667-1G>C No assertion criteria classic homocystinuria
p.Val314Ala No assertion criteria classic homocystinuria ⚠

Pathogenic/Likely pathogenic 61

c.1145+1G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1359-1G>C Multiple submitters classic homocystinuria
c.1552+1G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.209+1G>A Multiple submitters CBS-related disorder
c.209+1G>C Multiple submitters classic homocystinuria
c.210-1G>C Multiple submitters classic homocystinuria
c.667-14_667-7del Multiple submitters homocystinuria
c.737-1G>C Multiple submitters homocystinuria
c.828+1G>A Multiple submitters homocystinuria
c.954+1G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ala114Val Multiple submitters homocystinuria ⚠
p.Ala158Val Multiple submitters homocystinuria
p.Ala226Thr Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ala288Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala331Glu Multiple submitters homocystinuria
p.Arg121Cys Multiple submitters homocystinuria
p.Arg121Gly Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Arg121His Multiple submitters homocystinuria
p.Arg121Leu Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Arg125Trp Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg161fs Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Arg266Lys Multiple submitters homocystinuria ⚠
p.Arg317Gly Multiple submitters classic homocystinuria ⚠
p.Arg336His Multiple submitters homocystinuria ⚠
p.Arg336Pro Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Arg379Trp Multiple submitters homocystinuria
p.Arg51fs Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Asn194fs Multiple submitters classic homocystinuria
p.Asn228Ser Multiple submitters homocystinuria ⚠
p.Asp234Asn Multiple submitters homocystinuria ⚠
p.Asp376Asn Multiple submitters classic homocystinuria
p.Asp444Asn Multiple submitters homocystinuria ⚠
p.Cys109Arg Multiple submitters homocystinuria
p.Cys244_Asp245delinsTer Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Cys272Ter Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Cys370Tyr Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu144Lys Multiple submitters homocystinuria
p.Glu297Ter Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu363fs Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu436Ter Multiple submitters classic homocystinuria
p.Gly148Arg Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gly259Ser Multiple submitters classic homocystinuria
p.His232Asp Multiple submitters classic homocystinuria
p.Ile143Met Multiple submitters classic homocystinuria
p.Ile152Met Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Leu101Pro Multiple submitters homocystinuria
p.Leu136Pro Multiple submitters classic homocystinuria
p.Lys247_Gly256del Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Lys384Asn Multiple submitters classic homocystinuria
p.Lys406fs Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Pro145Leu Multiple submitters homocystinuria
p.Pro290Leu Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Pro33fs Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Pro49Leu Multiple submitters Autosomal recessive CBS-related disorders ⚠
p.Pro88Ser Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr257Met Multiple submitters homocystinuria
p.Thr262Met Multiple submitters homocystinuria ⚠
p.Trp323Ter Multiple submitters classic homocystinuria
p.Trp54Ter Multiple submitters homocystinuria
p.Val320Ala Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Val371Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠

Likely pathogenic 131

c.1468-1G>A Multiple submitters classic homocystinuria
c.209+1_209+8del Multiple submitters classic homocystinuria
c.451+1G>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.531+1G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ile278Ser Multiple submitters classic homocystinuria ⚠
p.Leu456Pro Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Leu539Ser Multiple submitters homocystinuria
p.Ser326fs Multiple submitters classic homocystinuria
p.Thr262Ala Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
c.1039+1G>A Single submitter classic homocystinuria
c.1039+2T>C Single submitter classic homocystinuria
c.1039+2T>G Single submitter classic homocystinuria
c.1039+5G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1040-2A>G Single submitter classic homocystinuria
c.1145+1G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1358+2T>A Single submitter classic homocystinuria
c.1359-2A>T Single submitter classic homocystinuria
c.1467+1G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1468-1G>C Single submitter classic homocystinuria
c.1553-1G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1553-2A>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.208_209+8del Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.209+1G>T Single submitter classic homocystinuria
c.210-2A>C Single submitter classic homocystinuria
c.316+1G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.316+2_316+3del Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.316+2T>C Single submitter classic homocystinuria
c.317-2A>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.452-1G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.531+1G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.736_736+8del Single submitter classic homocystinuria
c.808_828+5del Single submitter classic homocystinuria
c.829-1_829insGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCCGCGCCCTCTGCAGGTCACTGGGGTGGATCATCCAGGT Single submitter homocystinuria
c.829-1G>C Single submitter classic homocystinuria
c.829-1G>T Single submitter classic homocystinuria
c.954+2T>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.955-2A>C Single submitter classic homocystinuria
c.955-2A>G Single submitter homocystinuria
c.955-2A>T Single submitter classic homocystinuria
p.Ala114Ser Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ala158Thr Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ala226Ser Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ala288Pro Single submitter homocystinuria
p.Ala355Pro Single submitter homocystinuria
p.Arg196fs Single submitter classic homocystinuria
p.Arg266Gly Single submitter classic homocystinuria
p.Arg336Ser Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Arg379Gly Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Asp120fs Single submitter Abnormality of metabolism/homeostasis
p.Asp234del Single submitter classic homocystinuria
p.Asp444His Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Asp47Ala Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Asp47Asn Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Cys109Tyr Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Cys346Arg Single submitter classic homocystinuria
p.Cys52Ser Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gln295Ter Single submitter classic homocystinuria
p.Gln393Ter Single submitter classic homocystinuria
p.Gln486Ter Single submitter classic homocystinuria
p.Glu144Ter Single submitter classic homocystinuria
p.Glu171fs Single submitter classic homocystinuria
p.Glu176Asp Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu176Gly Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu213Ter Single submitter classic homocystinuria
p.Glu239Ter Single submitter classic homocystinuria
p.Glu283fs Single submitter classic homocystinuria
p.Glu283Ter Single submitter classic homocystinuria
p.Glu404Ter Single submitter classic homocystinuria
p.Glu440Ter Single submitter classic homocystinuria
p.Gly148Ala Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gly148Glu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gly153Val Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gly256Val Single submitter classic homocystinuria
p.Gly259Asp Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gly279Val Single submitter classic homocystinuria
p.Gly307Ala Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gly307Asp Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gly307Val Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gly348Ser Single submitter ⚠
p.Gly351Arg Single submitter
p.Gly453Arg Single submitter classic homocystinuria
p.His203fs Single submitter classic homocystinuria
p.His65Leu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ile278delinsThrGlyValAspHisProGlyGlyAlaPheAlaGlyLeuGluProTer Single submitter classic homocystinuria
p.Ile95Asn Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Leu230Gln Single submitter classic homocystinuria ⚠
p.Leu338Pro Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Leu540Gln Single submitter classic homocystinuria
p.Lys108fs Single submitter classic homocystinuria
p.Lys177Ter Single submitter classic homocystinuria
p.Lys359Ter Single submitter classic homocystinuria
p.Lys384Glu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Lys394fs Single submitter classic homocystinuria
p.Met173del Single submitter classic homocystinuria
p.Met1Ile Single submitter classic homocystinuria
p.Met464fs Single submitter classic homocystinuria
p.Phe385_Leu386insTer Single submitter classic homocystinuria
p.Pro145Arg Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Pro290Gln Single submitter ⚠
p.Pro41fs Single submitter classic homocystinuria
p.Pro88Arg Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ser217Phe Single submitter homocystinuria
p.Ser32fs Single submitter classic homocystinuria
p.Ser349Arg Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ser349Asn Single submitter classic homocystinuria
p.Ser349Gly Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ser352Arg Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ser420Ter Single submitter classic homocystinuria
p.Ser73fs Single submitter classic homocystinuria
p.Thr146fs Single submitter classic homocystinuria
p.Thr430fs Single submitter classic homocystinuria
p.Trp408Ter Single submitter classic homocystinuria
p.Trp410Ter Single submitter classic homocystinuria
p.Tyr518Ter Single submitter classic homocystinuria
p.Val118fs Single submitter classic homocystinuria
p.Val160Met Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Val168fs Single submitter classic homocystinuria
p.Val206fs Single submitter classic homocystinuria
p.Val371Leu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Val448fs Single submitter classic homocystinuria
p.Val454Glu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
c.1219_1223+8del No assertion criteria classic homocystinuria
c.1358+2T>C No assertion criteria classic homocystinuria
c.209+2T>C No assertion criteria classic homocystinuria
p.Arg336_Met337insTer No assertion criteria classic homocystinuria
p.Glu9fs No assertion criteria classic homocystinuria
p.Ile516fs No assertion criteria classic homocystinuria
p.Leu156fs No assertion criteria classic homocystinuria
p.Thr236fs No assertion criteria classic homocystinuria
p.Thr535fs No assertion criteria classic homocystinuria
p.Tyr301Ter No assertion criteria classic homocystinuria

Conflicting classifications of pathogenicity 87

c.1039+3G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
c.1146-12C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1146-5C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1146-6C>T Single submitter classic homocystinuria
c.1224-5C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1553-5C>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.667-10_667-7del Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.667-14C>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.829-13G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.829-3C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.832_833insCTGGGGGGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA Single submitter classic homocystinuria
c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA Single submitter classic homocystinuria
c.954+4G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
c.954+7C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.955-5C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
c.-85+10G>C Single submitter classic homocystinuria
c.*18G>A Single submitter classic homocystinuria
c.*540G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ala114= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Ala114Thr Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ala155Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala157Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala158= Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ala226Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala331Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala335= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Ala355= Single submitter classic homocystinuria
p.Ala355Val Single submitter classic homocystinuria ⚠
p.Ala361Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala509= Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ala545Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg132Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg336Leu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg369Cys Single submitter connective tissue disorder ⚠
p.Arg439Gln Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg45Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg491His Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Asn194Ser Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Asp120Asn Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Asp120Gly Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Asp133Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Asp179_Leu184del Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Asp328Asn Single submitter classic homocystinuria ⚠
p.Gln298= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Gln526Lys Single submitter classic homocystinuria ⚠
p.Glu144Gln Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Glu176Gln Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Glu270del Single submitter classic homocystinuria
p.Glu302Lys Single submitter classic homocystinuria ⚠
p.Gly139Arg Single submitter classic homocystinuria ⚠
p.Gly153Arg Single submitter homocystinuria ⚠
p.Gly256Ser Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.His513= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Ile339= Single submitter classic homocystinuria
p.Ile95Thr Single submitter classic homocystinuria ⚠
p.Leu101Val Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Leu251= Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Leu251Pro Single submitter classic homocystinuria ⚠
p.Leu419= Single submitter connective tissue disorder
p.Lys72Ile Single submitter connective tissue disorder ⚠
p.Met1Thr Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Phe99Tyr Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Pro12Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Pro200= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Pro229Thr Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Pro282= Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Pro312His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Pro422Leu Single submitter classic homocystinuria ⚠
p.Pro427Leu Single submitter classic homocystinuria ⚠
p.Pro475= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Pro59Ser Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Pro70Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Pro88Ala Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ser123Arg Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ser23Leu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ser349Thr Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ser387= Single submitter familial thoracic aortic aneurysm and aortic dissection
p.Ser466Leu Single submitter classic homocystinuria ⚠
p.Thr191Lys Single submitter ⚠
p.Thr296Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Thr318= Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr353= Single submitter connective tissue disorder
p.Thr403Met Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Tyr308= Single submitter classic homocystinuria
p.Val168Met Single submitter homocystinuria ⚠
p.Val358Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Val425Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠

Benign 67

c.1146-288T>C Multiple submitters
c.1467+38A>G Multiple submitters
c.1468-36A>G Multiple submitters
c.1468-98G>A Multiple submitters
c.1552+154T>C Multiple submitters classic homocystinuria
c.316+130G>A Multiple submitters classic homocystinuria
c.316+224C>A Multiple submitters
c.451+75G>A Multiple submitters
c.451+82C>A Multiple submitters
c.531+34G>T Multiple submitters
c.828+23A>G Multiple submitters
c.829-12C>T Multiple submitters classic homocystinuria
c.829-265G>A Multiple submitters
c.829-60C>T Multiple submitters
c.829-88G>A Multiple submitters
c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.954+20C>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.954+33G>A Multiple submitters
c.-85+195A>C Multiple submitters
c.-9+145A>G Multiple submitters
c.*10C>A Multiple submitters classic homocystinuria
c.*123C>G Multiple submitters classic homocystinuria
c.*299G>A Multiple submitters classic homocystinuria
c.*544T>C Multiple submitters classic homocystinuria
c.*565C>T Multiple submitters classic homocystinuria
p.Ala360= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Asn212= Multiple submitters connective tissue disorder
p.Tyr233= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1040-322T>C Single submitter
c.1040-323G>A Single submitter
c.1145+268C>T Single submitter
c.1358+264A>G Single submitter
c.1359-10del Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1359-219C>T Single submitter
c.1359-30C>T Single submitter
c.1467+127_1467+157del Single submitter
c.1467+191G>A Single submitter
c.1467+255A>G Single submitter
c.1552+1031G>A Single submitter
c.1552+1036G>A Single submitter
c.1552+960A>G Single submitter
c.1553-147del Single submitter
c.209+103del Single submitter
c.210-44_210-43dup Single submitter
c.316+718A>T Single submitter
c.316+728C>T Single submitter
c.317-216G>A Single submitter
c.451+142G>A Single submitter
c.451+29A>G Single submitter
c.736+281A>C Single submitter
c.736+282T>G Single submitter
c.736+295G>A Single submitter
c.828+114C>T Single submitter
c.828+237C>T Single submitter
c.828+238G>A Single submitter
c.828+262A>T Single submitter
c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGAGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.-8-159C>T Single submitter
c.-8-258G>A Single submitter
c.-8-292G>C Single submitter
c.-8-36G>A Single submitter
c.-84-52C>T Single submitter
c.-9+175T>C Single submitter
c.*27C>T Single submitter
p.Pro282_Glu283insLysGlyProSerSerGlnSerArgArgSerTer Single submitter
p.Pro282delinsHisProGlyGlyAlaPheAlaGlyLeuGluProTer Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Benign/Likely benign 26

c.1039+19C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
c.1145+7C>T Multiple submitters classic homocystinuria
c.1223+12C>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1223+13G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1358+15C>G Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1359-14C>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.210-44dup Multiple submitters
c.317-46G>C Multiple submitters
c.531+11G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
c.829-14C>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.829-91G>A Multiple submitters
c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.954+8G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.*34G>A Multiple submitters classic homocystinuria
c.*383C>T Multiple submitters classic homocystinuria
c.*566G>A Multiple submitters classic homocystinuria
c.*681A>G Multiple submitters classic homocystinuria
c.*81G>A Multiple submitters classic homocystinuria
p.Ala544= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Arg18Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg548Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Asn225= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Lys102Gln Multiple submitters connective tissue disorder ⚠
p.Pro422= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Thr191= Multiple submitters connective tissue disorder
p.Thr313= Multiple submitters CBS-related disorder

Likely benign 541

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

c.1039+20G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1040-16G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1040-6C>G Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1145+9C>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1146-10C>G Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1146-110C>A Multiple submitters
c.1146-20G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1146-4G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1146-7C>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1223+123_1224-87del Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1223+17G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1224-14C>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1358+15C>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1359-18C>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1359-9G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1468-14C>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1553-16C>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1553-48C>T Multiple submitters
c.316+524G>A Multiple submitters
c.317-225C>T Multiple submitters
c.317-22G>A Multiple submitters
c.451+20G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.452-12G>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.532-13T>C Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.666+10C>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.667-4G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
c.737-10C>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.828+16G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.828+20C>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.829-11G>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.954+18C>G Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.955-108C>A Multiple submitters
c.955-19G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.955-48C>T Multiple submitters
p.Ala107= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ala130= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ala24= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ala265= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ala288= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ala331= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ala340= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ala357= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ala361= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ala470= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ala48= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Arg132= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Arg209= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Arg389= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Arg498= Multiple submitters classic homocystinuria
p.Arg548= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Asn113= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Asn149= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Asn327= Multiple submitters Cardiovascular phenotype
p.Asp179= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Asp221= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Asp234= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Asp444= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Cys275= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Cys346= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Cys370= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gln243= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gln528= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu128= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Glu239= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu330= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu504= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Gly115= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Gly185= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Gly258= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Gly31= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Gly442= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.His17= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.His203= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.His411= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ile127= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ile143= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ile152= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ile167= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ile306= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ile429= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ile76= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ile84= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Leu136= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Leu268= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Leu28= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Leu345= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Leu392= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Leu42= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Leu456= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Leu503= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Leu539= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Leu56= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Lys488= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Lys94= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Phe385= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Phe443= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Phe508= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Phe531= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Phe542= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Phe99= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Pro138= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Pro229= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Pro290= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Pro49= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Pro59= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Pro6= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ser117= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ser123= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ser147= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ser23= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ser466= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Ser525= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ser61= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr141= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr236= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Thr257= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr262= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr383= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr403= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Thr424= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr493= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Thr495= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Thr5= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Thr521= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Thr535= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Tyr163= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Tyr223= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Tyr301= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Val204= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Val280= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Val459= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Val533= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1039+10T>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1039+13C>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1039+13C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1039+14G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1039+14G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1039+19C>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1039+19C>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1039+20G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1039+7G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1039+7G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1039+9G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1040-10C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1040-10CT[2] Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1040-115G>C Single submitter
c.1040-13G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1040-15_1040-13del Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1040-17C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1040-275G>A Single submitter
c.1040-7T>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1145+10G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1145+10G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1145+11G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1145+12C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1145+16C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1145+17C>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1145+17C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1145+19C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1145+241A>G Single submitter
c.1145+8dup Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1145+9C>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1146-10C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1146-11C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1146-13C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1146-199T>C Single submitter
c.1146-19T>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1146-4G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1146-4G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1146-68G>A Single submitter
c.1223+10C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1223+13G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1223+16C>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1223+16C>G Single submitter
c.1223+16C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1223+19A>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1223+7C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1223+8C>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1223+8C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1223+9G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1224-12C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1224-13C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1224-14C>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1224-20G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1224-20G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1224-20G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1224-6C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1224-7C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1358+7C>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1358+7C>T Single submitter
c.1359-10C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1359-13C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1359-15G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1359-5C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1359-8T>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1359-9G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1467+10C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1467+11A>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1467+11dup Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1467+12C>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1467+13C>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1467+16C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1467+18_1467+79del Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1467+19G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1467+317G>A Single submitter
c.1468-132A>C Single submitter
c.1468-13G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1468-13G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1468-17C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1468-219G>A Single submitter
c.1552+10G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1552+11C>G Single submitter
c.1552+11C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1552+12C>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1552+15G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1552+16C>T Single submitter
c.1552+201G>A Single submitter
c.1552+20G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1552+21_1552+22del Single submitter
c.1552+7G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1552+8G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1552+9G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1553-101T>C Single submitter
c.1553-11T>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1553-13G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1553-13G>C Single submitter
c.1553-14C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1553-157dup Single submitter
c.1553-18G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1553-20C>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1553-5C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1553-6C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1553-9T>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.209+13T>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.209+17A>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.209+19C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.209+20A>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.209+236G>A Single submitter
c.209+7C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.210-12C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.210-13T>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.210-16G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.210-17G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.210-19G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.210-45dup Single submitter
c.210-4T>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.316+11T>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.316+18G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.316+19G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.316+474T>G Single submitter
c.316+586A>G Single submitter classic homocystinuria
c.316+652G>A Single submitter
c.316+737T>C Single submitter
c.316+7G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.316+7G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.316+9C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.317-10T>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.317-15A>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.317-15A>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.317-16C>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.317-21_317-20del Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.317-225C>G Single submitter
c.317-319A>G Single submitter
c.317-3del Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.317-4C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.317-5C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.317-70dup Single submitter
c.317-8C>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.317-8C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.451+11G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.451+16A>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.451+197del Single submitter
c.451+19G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.451+20G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.451+20G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.451+7G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.451+7G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.451+8C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.452-11T>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.452-14_452-13del Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.452-14C>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.452-16C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.452-17C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.452-18C>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.452-19A>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.452-4T>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.531+10C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.531+11G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.531+12T>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.531+15C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.531+16C>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.531+17del Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.531+19G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.531+19G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.531+8G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.532-16G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.532-16G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.532-17C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.532-18C>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.532-19A>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Uncertain significance 325

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

c.1223+5G>A Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1467+4C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
c.210-3C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
c.736+4C>T Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.736+5G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ala183Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala226Pro Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ala24Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala288Ser Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ala340Val Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ala357Gly Multiple submitters classic homocystinuria ⚠
p.Ala361Val Multiple submitters classic homocystinuria ⚠
p.Ala509Thr Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ala8Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala8Val Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg132His Multiple submitters classic homocystinuria ⚠
p.Arg132Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg196Ser Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg209Gln Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg224Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg224His Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg224Leu Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg369His Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg389Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg413Cys Multiple submitters classic homocystinuria ⚠
p.Arg413His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg439Trp Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg45Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg491Cys Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg51Lys Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg51Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg527Trp Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg548Trp Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Asp249Asn Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Asp309Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Asp35Tyr Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Cys52Tyr Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gln489= Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu131Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Glu213Lys Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Glu270Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Glu283Lys Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Glu292Leu Multiple submitters classic homocystinuria
p.Glu366Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Glu399Lys Multiple submitters classic homocystinuria ⚠
p.Glu400del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Glu451Asp Multiple submitters classic homocystinuria ⚠
p.Glu62Lys Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gly134Ala Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gly134Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gly26Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gly442Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gly453Glu Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gly471Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gly522Arg Multiple submitters classic homocystinuria ⚠
p.Gly532Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.His22Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ile142Met Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ile264Thr Multiple submitters classic homocystinuria ⚠
p.Ile286Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Leu402Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Leu492Phe Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Leu81Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Lys102Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Lys108Arg Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Lys25Asn Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Lys36Glu Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Met173Arg Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Met250Ile Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Met250Leu Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Met337Val Multiple submitters Cardiovascular phenotype ⚠
p.Met458Thr Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Met505Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Pro138Ser Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Pro200Leu Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Pro282Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Pro2Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Pro475Leu Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Pro70Arg Multiple submitters classic homocystinuria ⚠
p.Pro74Leu Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Pro78Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ser117Cys Multiple submitters classic homocystinuria ⚠
p.Ser27dup Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ser500Leu Multiple submitters classic homocystinuria ⚠
p.Ter552Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Ter552Gly Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr135Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Thr141Met Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Thr296Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Thr318Met Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Thr460Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Thr493Met Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Thr495Met Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Thr5Ala Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Trp208Arg Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Trp208Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Tyr484Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Val118Met Multiple submitters classic homocystinuria ⚠
p.Val178Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Val180Met Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Val204Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Val206Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Val356Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Val372Ile Multiple submitters connective tissue disorder ⚠
p.Val448Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Val533Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
p.Val534Ile Multiple submitters HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
c.1039+6T>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1146-3C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1468-6T>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.1552+5G>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.209+2dup Single submitter familial thoracic aortic aneurysm and aortic dissection
c.209+5G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.316+5G>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.667-3C>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.736+6T>C Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.737-10C>A Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.737-10C>G Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.829-15_829-14insGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGT Single submitter
c.829-2dup Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.954+5G>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.955-3C>T Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
c.-136C>T Single submitter classic homocystinuria
c.-242T>C Single submitter classic homocystinuria
c.-4C>A Single submitter familial thoracic aortic aneurysm and aortic dissection
c.-8-4C>T Single submitter
c.-81C>T Single submitter classic homocystinuria
c.-84-277dup Single submitter classic homocystinuria
c.*132G>C Single submitter classic homocystinuria
c.*140G>A Single submitter classic homocystinuria
c.*17C>T Single submitter
c.*22C>T Single submitter
c.*286A>G Single submitter classic homocystinuria
c.*28G>A Single submitter
c.*296T>C Single submitter classic homocystinuria
c.*305T>C Single submitter classic homocystinuria
c.*394C>T Single submitter classic homocystinuria
c.*409G>A Single submitter classic homocystinuria
c.*409G>T Single submitter classic homocystinuria
c.*472C>T Single submitter classic homocystinuria
c.*592T>A Single submitter classic homocystinuria
c.*6G>A Single submitter
c.*80C>T Single submitter classic homocystinuria
p.Ala130Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala183Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala237Thr Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ala237Val Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ala38Thr Single submitter ⚠
p.Ala421Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala446Val Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ala452Val Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ala509Val Single submitter ⚠
p.Ala536Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala536Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ala545Val Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ala60Val Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg125Pro Single submitter ⚠
p.Arg164His Single submitter ⚠
p.Arg182Gln Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg182Trp Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg18Ser Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg209Pro Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg209Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Arg527Gln Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Arg58Gln Single submitter ⚠
p.Arg58Trp Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Asn194Asp Single submitter ⚠
p.Asn212Lys Single submitter classic homocystinuria ⚠
p.Asn380Ser Single submitter ⚠
p.Asp198Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Asp309Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Asp316Asn Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Asp35Asn Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Asp376_Ser377insAsp Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Asp388Asn Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Asp477Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Asp506Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Asp538His Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Asp549Asn Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Asp549His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Cys244Tyr Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Cys370Arg Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gln295Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gln393His Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gln478His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gln486Arg Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gln550Lys Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Glu213Gly Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Glu289Gly Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Glu329Asp Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Glu329Gln Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Glu404Asp Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Glu404del Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu40Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Glu436_Ile437del Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Glu547Val Single submitter ⚠
p.Gly100Ser Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gly115Asp Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gly11Arg Single submitter ⚠
p.Gly11Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gly151Trp Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gly151Val Single submitter ⚠
p.Gly185Glu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gly20Glu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gly31Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gly347Ala Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gly347Cys Single submitter ⚠
p.Gly418Ser Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Gly453= Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Gly453Trp Single submitter classic homocystinuria ⚠
p.Gly480Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gly532Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Gly57Asp Single submitter classic homocystinuria ⚠
p.His17Asn Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.His513Arg Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.His513Gln Single submitter ⚠
p.Ile127Met Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ile166Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ile167Val Single submitter ⚠
p.Ile286Thr Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ile373Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ile437Thr Single submitter ⚠
p.Ile44Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ile483Thr Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ile84Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Leu105Val Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Leu181Pro Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Leu248Val Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Leu364_Glu366dup Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Leu461Arg Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Leu461Phe Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Leu503Val Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Lys177Asn Single submitter ⚠
p.Lys177Thr Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Lys211Arg Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Lys271Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Lys359Met Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Lys398Glu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Lys405Gln Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Lys406del Single submitter classic homocystinuria
p.Lys406Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Lys485Arg Single submitter classic homocystinuria ⚠
p.Lys485Glu Single submitter classic homocystinuria ⚠
p.Lys75Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Lys94Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Met169Leu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Met173Ile Single submitter ⚠
p.Met250Lys Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Met250Val Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Met337Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Met337Leu Single submitter classic homocystinuria ⚠
p.Met382Val Single submitter Cardiovascular phenotype ⚠
p.Met505Arg Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Met89Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Met89Lys Single submitter ⚠
p.Phe332Leu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Phe99Leu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Phe99Ser Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Pro200Arg Single submitter ⚠
p.Pro273Ser Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Pro422Gln Single submitter classic homocystinuria ⚠
p.Ser175Thr Single submitter ⚠
p.Ser199Cys Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ser199Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ser19Leu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ser254Leu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ser326Gly Single submitter classic homocystinuria ⚠
p.Ser467Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ser50Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ser50Cys Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Ser525Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Ser73Cys Single submitter ⚠
p.Thr141Ala Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Thr150= Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Thr313Lys Single submitter classic homocystinuria ⚠
p.Thr313Met Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Thr383Ile Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Thr403Lys Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Thr5Asn Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Thr68Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Thr68Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Thr87Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Trp43Cys Single submitter ⚠
p.Tyr163Cys Single submitter ⚠
p.Tyr233Cys Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
p.Tyr381Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Tyr381His Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Tyr484Cys Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Val10Leu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Val118Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Val168Leu Single submitter ⚠
p.Val252Met Single submitter classic homocystinuria ⚠
p.Val280Met Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Val354Ala Single submitter ⚠
p.Val372Phe Single submitter classic homocystinuria ⚠
p.Val425Leu Single submitter HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ⚠
p.Val449Gly Single submitter ⚠
p.Val479Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Val482Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
c.*19G>A No assertion criteria classic homocystinuria