| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LRRC57, SNAP23 (M99T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SNAP23, LRRC57 (E154D +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LRRC57, SNAP23 (D192G +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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