| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome +1 more | |
Click to view in NCBI Gene