| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Hereditary cryohydrocytosis with reduced stomatin +6 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy +1 more | |
| | | Single nucleotide variant (missense variant) | Severe intellectual deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Severe intellectual deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant) | Epilepsy +1 more | |
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