| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | CEBALID syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | KCNH1-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | Mitochondrial complex III deficiency nuclear type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene