Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | Facial hypotonia +5 more | |
| | | Deletion | Autism +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +13 more | GConflicting classifications of pathogenicity |
| | LOC102724058, SCN1A (V1601I +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy +13 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene