| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Vitamin D-dependent rickets, type 1A +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple sclerosis, susceptibility to +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene