| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Cholestasis-pigmentary retinopathy-cleft palate syndrome +1 more | |
| | | Deletion (frameshift variant) | Cholestasis-pigmentary retinopathy-cleft palate syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cholestasis-pigmentary retinopathy-cleft palate syndrome | |
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