| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 1 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Microsatellite (splice donor variant) | Exostoses, multiple, type 1 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene