| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | 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) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | |
| | | Copy number loss | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | |
| | | Copy number loss | not provided | |
Click to view in NCBI Gene