| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +2 more) | CHCHD2-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | CHCHD2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | CHCHD2, LOC129998502 (P2L) | Single nucleotide variant (missense variant) | not provided +1 more | |
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