| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | C2orf69, LOC129935377 (W2L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | C2orf69, LOC129935377 (S28C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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