| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Sleep apnea +2 more | |
| | | Deletion (frameshift variant) | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +3 more | |
| | | Microsatellite (frameshift variant) | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Periventricular leukomalacia +5 more | |
| | | Deletion | Periventricular leukomalacia +5 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypotonia +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Hypertelorism +6 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar atrophy +5 more | |
| | | Deletion (frameshift variant) | Cerebellar atrophy +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked progressive cerebellar ataxia | |
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