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 |
| | | Single nucleotide variant (intron variant) | Brachyrachia (short spine dysplasia) +14 more | |
| | | Single nucleotide variant (missense variant) | Familial digital arthropathy-brachydactyly +11 more | |
| | | Single nucleotide variant (intron variant) | not provided +13 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease +14 more | GPathogenic/Likely pathogenic |
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