| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Polycystic liver disease 3 with or without kidney cysts | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Polycystic liver disease 3 with or without kidney cysts +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | ALG8 congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (missense variant) | ALG8 congenital disorder of glycosylation +1 more | |
| | | Duplication (inframe_insertion) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
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