| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (genic downstream transcript variant) | Limb dystonia +5 more | |
| | | Single nucleotide variant (missense variant) | Limb dystonia +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type I +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene