| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria +7 more | |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria | |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene