| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia +2 more | |
| | | Copy number loss | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | |
| | | Deletion | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | |
| | | Deletion (frameshift variant) | Hypotonia +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |