| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATP8B2, LOC126805873 (C33Y +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATP8B2, LOC126805873 (L49F +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805873, ATP8B2 (I101V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC132088675, LOC132088682
+1585 more | Copy number gain | See cases | |
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