| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental disorder | |