| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | |
| | | Deletion (splice donor variant) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | |
| | | Deletion (inframe_deletion +2 more) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Duplication (frameshift variant +1 more) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | |
| | | Single nucleotide variant (missense variant +2 more) | Syndromic intellectual disability +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic intellectual disability | |