Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +9 more | |
| | | Single nucleotide variant (missense variant) | Inguinal hernia +12 more | |
| | | Deletion (frameshift variant) | Joint hypermobility +9 more | |
| | | Single nucleotide variant (missense variant) | Joint hypermobility +9 more | |
Click to view in NCBI Gene