| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cerebellar-facial-dental syndrome | |
| | | Single nucleotide variant (missense variant) | Cerebellar-facial-dental syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene