Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Posterolateral diaphragmatic hernia +13 more | |
| | | Deletion (frameshift variant) | Posterolateral diaphragmatic hernia +13 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +22 more | |
| | | Single nucleotide variant (missense variant +1 more) | See cases +19 more | |
| | | Single nucleotide variant (missense variant) | Lens luxation +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | TWIST1-related craniosynostosis +1 more | |
| | | Single nucleotide variant (missense variant) | Child syndrome +1 more | |
| | | Translocation | Narrow nasal base +9 more | |
| | | Translocation | Arachnodactyly +10 more | |
| | | Single nucleotide variant (missense variant) | Dolichocephaly +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | FBN1-related disorder +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +14 more | |
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