Links from PubMed
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +19 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary motor and sensory, type 6A +5 more | |
Click to view in NCBI Gene