| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | LOC130060335, LOC130060336 +242 more | Copy number gain | See cases | |
| | ADORA2B, ARHGAP44 +228 more | Duplication | not specified | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | |
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