Links from Orgtrack
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Neuronopathy, distal hereditary motor, type 5B | |
| | | Single nucleotide variant (nonsense +1 more) | Charcot-Marie-Tooth disease type 4G | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 4C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4C +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy +4 more | GPathogenic/Likely pathogenic |
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