| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 50 +1 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | |
| | | Copy number gain | not provided | |
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