| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | HK1-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with visual defects and brain anomalies +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene