| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GUCY1A2, LOC130006681 (P50L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GUCY1A2, LOC130006681 (E20K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GUCY1A2, LOC130006681 (A54T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
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