| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Classic homocystinuria +1 more | |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Classic homocystinuria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria +4 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +4 more | |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more | |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
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