| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene