| | | Single nucleotide variant (missense variant +3 more) | Microcephaly, growth deficiency, seizures, and brain malformations | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Microcephaly, growth deficiency, seizures, and brain malformations +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Microcephaly, growth deficiency, seizures, and brain malformations +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Galloway-Mowat syndrome 6 +2 more | |
| | | Single nucleotide variant (intron variant) | Galloway-Mowat syndrome 6 +2 more | |
| | | Single nucleotide variant (intron variant) | Microcephaly, growth deficiency, seizures, and brain malformations +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly, growth deficiency, seizures, and brain malformations +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly, growth deficiency, seizures, and brain malformations | |
| | | Single nucleotide variant (synonymous variant +2 more) | Microcephaly, growth deficiency, seizures, and brain malformations +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly, growth deficiency, seizures, and brain malformations +1 more | GConflicting classifications of pathogenicity |