| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation deficiency 32 +2 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | Chromosome 16p13.3 duplication syndrome | |
Click to view in NCBI Gene