| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
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