| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Roifman syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Osteodysplastic primordial dwarfism, type 1 +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene