Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 5 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, matrilin-3 type | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene