| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | |
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