| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ACO2, LOC130067544 (F537S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ACO2, LOC130067544 (D538V) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | ACO2, LOC130067544 (D542A) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | ACO2, LOC130067544 (P570T) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC130067544, ACO2 (W574C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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