Links from MedGen
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | LOC130060199, LOC130060200 +14 more | Deletion (genic upstream transcript variant) | Intellectual disability +29 more | |
| | | Single nucleotide variant (nonsense) | Atrial septal defect, ostium secundum type +2 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +4 more | GPathogenic/Likely pathogenic |
| | NDE1, MYH11 (D1461H +1 more) | Single nucleotide variant (missense variant +1 more) | Mitral regurgitation +4 more | |
| | | Single nucleotide variant (missense variant) | Ectopia lentis +6 more | |
| | | Inversion | Hypotonia +22 more | |
| | | Inversion | Cardiac arrhythmia +12 more | |
Click to view in NCBI Gene