Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Amelogenesis imperfecta, hypomaturation type, IIa6 | |
| | | Single nucleotide variant (nonsense) | Amelogenesis imperfecta, hypomaturation type, IIa6 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta, hypomaturation type, IIa6 +1 more | |
| | | Deletion (frameshift variant) | Amelogenesis imperfecta, hypomaturation type, IIa6 +1 more | |
| | | Deletion (inframe_deletion) | Amelogenesis imperfecta, hypomaturation type, IIa6 +1 more | |
Click to view in NCBI Gene