| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130067340, KCTD17 (A26T +1 more) | Single nucleotide variant (missense variant) | KCTD17-related disorder +2 more | |
| | | Single nucleotide variant (splice donor variant) | KCTD17-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KCTD17-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Myoclonic dystonia 26 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | KCTD17-related disorder +2 more | |
Click to view in NCBI Gene