| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Birk-Barel syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +2 more) | Mulibrey nanism syndrome +1 more | |
Click to view in NCBI Gene