| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129388767, ZNF678 (R57K +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129388768, ZNF678 (H283R +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129388768, ZNF678 (P347R +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
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