| | | Microsatellite (frameshift variant +1 more) | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | |
| | | Single nucleotide variant (intron variant +1 more) | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | MADD-related condition +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +1 more | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Deeah syndrome +1 more | |
| | | Single nucleotide variant (intron variant +2 more) | MADD-related condition +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deeah syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Deletion (nonsense +2 more) | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | |
| | | Deletion (nonsense +2 more) | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |