| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC101928045, PITPNC1 (W226G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101928045, PITPNC1 (W226L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101928045, PITPNC1 (G250S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
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