| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic acidemia with homocystinuria, type cblX | |
| | | Copy number gain | Syndromic X-linked intellectual disability Lubs type | |
Click to view in NCBI Gene