| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 11 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hypomyelinating leukodystrophy 11 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 8 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 8 | |
| | | Copy number gain | not provided | |
Click to view in NCBI Gene