Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease dominant intermediate D +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Autosomal recessive Dejerine-Sottas syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Hereditary liability to pressure palsies +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary liability to pressure palsies +2 more | GPathogenic/Likely pathogenic |
| | | Deletion | Autosomal recessive Dejerine-Sottas syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Peripheral neuropathy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | |
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