Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta, type 3C +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta, type 3C | |
| | | Single nucleotide variant (splice acceptor variant) | Amelogenesis imperfecta, type 3C | |
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta, type 3C | |
| | | Deletion (frameshift variant) | Amelogenesis imperfecta, type 3C | |
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