| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Neonatal ichthyosis-sclerosing cholangitis syndrome +2 more | |
| | | Deletion (5 prime UTR variant) | Primary hypomagnesemia +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
Click to view in NCBI Gene