| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Complex cortical dysplasia with other brain malformations 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Complex cortical dysplasia with other brain malformations 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple benign circumferential skin creases on limbs 1 +3 more | |
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