| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Multiple system atrophy 1, susceptibility to +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Multiple system atrophy | |
| | | Deletion (frameshift variant) | Multiple system atrophy 1, susceptibility to | |
| | | Single nucleotide variant (missense variant) | Coenzyme Q10 deficiency, primary, 1 | |
| | | Single nucleotide variant (missense variant) | Coenzyme Q10 deficiency, primary, 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | COQ2, LOC112997540 (Q105H +1 more) | Single nucleotide variant (missense variant) | Coenzyme Q10 deficiency, primary, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Coenzyme Q10 deficiency, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple system atrophy 1, susceptibility to | |
| | | Copy number loss | not provided | |
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