| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +4 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +4 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC125312417, STRADA (V179L +5 more) | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more | |