| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial digital arthropathy-brachydactyly +11 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Maroteaux type +11 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Brachyrachia (short spine dysplasia) +13 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Avascular necrosis of femoral head, primary, 2 +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Parastremmatic dwarfism +11 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +12 more | |
| | | Single nucleotide variant (nonsense) | Spondylometaphyseal dysplasia, Kozlowski type +10 more | |
| | | Single nucleotide variant (missense variant) | Brachyrachia (short spine dysplasia) +12 more | |
Click to view in NCBI Gene