Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (intron variant) | Amelogenesis imperfecta hypomaturation type 2A5 | |
| | | Single nucleotide variant (nonsense) | Amelogenesis imperfecta hypomaturation type 2A5 | |
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta hypomaturation type 2A5 | |
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta hypomaturation type 2A5 | |
| | | Single nucleotide variant (nonsense) | Amelogenesis imperfecta hypomaturation type 2A5 | |
Click to view in NCBI Gene