Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Diaphyseal dysplasia +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Peripheral axonal neuropathy +11 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene