| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Deletion (intron variant) | Coenzyme Q10 deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene