| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC102724058, SCN1A (V1601I +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Polyphagia +12 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autism +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mild microcephaly +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | See cases +5 more | |
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