| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | Chromosome 4q21 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Coenzyme Q10 deficiency, primary, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Coenzyme Q10 deficiency, primary, 1 | |
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