| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 4 deficiency, nuclear type 12 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Deletion (intron variant) | not specified +2 more | |
| | | Microsatellite (inframe_deletion +1 more) | Mitochondrial complex 4 deficiency, nuclear type 12 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 4 deficiency, nuclear type 12 +1 more | |
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