| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +3 more) | Complex cortical dysplasia with other brain malformations 6 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple benign circumferential skin creases on limbs 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Complex cortical dysplasia with other brain malformations 6 +3 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | not provided | |
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