Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Complex cortical dysplasia with other brain malformations 6 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple benign circumferential skin creases on limbs 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple benign circumferential skin creases on limbs 1 +1 more | |
| | | Single nucleotide variant (intron variant +3 more) | Complex cortical dysplasia with other brain malformations 6 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Complex cortical dysplasia with other brain malformations 6 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Complex cortical dysplasia with other brain malformations 6 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Multiple benign circumferential skin creases on limbs 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple benign circumferential skin creases on limbs 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Complex cortical dysplasia with other brain malformations 6 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Complex cortical dysplasia with other brain malformations 6 +1 more | |
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