| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC107372315, OSGEP (I111T) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC107372315, OSGEP (C110R) | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene