| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant +1 more) | Autosomal recessive keratitis-ichthyosis-deafness syndrome | |
| | | Deletion | Autosomal recessive keratitis-ichthyosis-deafness syndrome | |
| | | Single nucleotide variant (nonsense) | Primary hypomagnesemia | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, childhood absence 2 +2 more | |
Click to view in NCBI Gene