Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2C +10 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +12 more | |
| | | Single nucleotide variant (missense variant) | Familial digital arthropathy-brachydactyly +12 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2C +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Scapuloperoneal spinal muscular atrophy +11 more | |
| | | Single nucleotide variant (missense variant) | Parastremmatic dwarfism +11 more | |
| | | Single nucleotide variant (missense variant) | Parastremmatic dwarfism +13 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Avascular necrosis of femoral head, primary, 2 | |
| | | Single nucleotide variant (intron variant) | Spondylometaphyseal dysplasia, Kozlowski type +14 more | |
| | | Single nucleotide variant (missense variant) | Familial digital arthropathy-brachydactyly +11 more | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal dominant 8 +13 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +14 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene