Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | See cases +7 more | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect and common atrioventricular junction +7 more | |
| | | Translocation | Delayed speech and language development +9 more | |
| | | Translocation | Asthma +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +11 more | GConflicting classifications of pathogenicity |
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