Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GDAP1, LOC130000622 (S34C) | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal dominant Charcot-Marie-Tooth disease type 2K +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease axonal type 2K +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant Charcot-Marie-Tooth disease type 2K +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant Charcot-Marie-Tooth disease type 2K +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene