Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neural tube defect +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Clubfoot +22 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (missense variant) | not provided +19 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene