Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Bilateral frontoparietal polymicrogyria +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bilateral frontoparietal polymicrogyria +1 more | |
| | | Deletion (frameshift variant +2 more) | Bilateral frontoparietal polymicrogyria +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Indel (missense variant) | Bilateral frontoparietal polymicrogyria +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ADGRG1-related disorder +4 more | |
| | | Single nucleotide variant (missense variant) | Bilateral frontoparietal polymicrogyria +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Bilateral frontoparietal polymicrogyria +2 more | |
| | | Microsatellite (intron variant) | not provided | |
Click to view in NCBI Gene