| | | Single nucleotide variant (nonsense) | Febrile seizure (within the age range of 3 months to 6 years) | |
| | | Single nucleotide variant (splice acceptor variant) | Febrile seizure (within the age range of 3 months to 6 years) | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Febrile seizure (within the age range of 3 months to 6 years) +2 more | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy +1 more | |
| | | Single nucleotide variant (missense variant) | Febrile seizure (within the age range of 3 months to 6 years) +5 more | |
| | | Deletion (inframe_deletion +1 more) | Cryptorchidism +7 more | |
| | LOC102724058, SCN1A (S1110fs +5 more) | Duplication (non-coding transcript variant +1 more) | Polymicrogyria +11 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 8 +6 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Myocarditis +3 more | |
| | | Single nucleotide variant (missense variant) | Gastroesophageal reflux +11 more | |
| | | Single nucleotide variant (missense variant) | Aspiration pneumonia +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 13 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Febrile seizure (within the age range of 3 months to 6 years) | |
| | | Single nucleotide variant (missense variant) | Seizures, benign familial infantile, 3 +2 more | GConflicting classifications of pathogenicity |
| | | Translocation | Specific learning disability +9 more | |
| | | Inversion | Thrombocytopenia +9 more | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Hepatosplenomegaly +4 more | GConflicting classifications of pathogenicity |