Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, dominant intermediate G | |
| | | Duplication (inframe_insertion) | Charcot-Marie-Tooth disease, dominant intermediate G | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, dominant intermediate G +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2E +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2E +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2E +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
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