| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Multiple epiphyseal dysplasia type 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Carpal tunnel syndrome 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
Click to view in NCBI Gene