| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HELZ2, LOC130066365 (R689C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HELZ2, LOC130066365 (S116L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HELZ2, LOC130066365 (A115D +1 more) | Single nucleotide variant (missense variant) | not specified | |
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