| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | CBS-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +6 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CBS-related disorder +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene