| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Neonatal ichthyosis-sclerosing cholangitis syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Primary hypomagnesemia | |
| | | Single nucleotide variant (missense variant) | Primary hypomagnesemia | |
Click to view in NCBI Gene