Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Abdominal distention +8 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Movement disorder +3 more | |
Click to view in NCBI Gene