| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant | Metaphyseal chondrodysplasia, McKusick type +2 more | |
| | | Single nucleotide variant (non-coding transcript variant) | Metaphyseal chondrodysplasia, McKusick type +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene