Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (frameshift variant +1 more) | ODAPH-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | ODAPH-related disorder | |
| | | Single nucleotide variant (splice acceptor variant) | Amelogenesis imperfecta hypomaturation type 2A4 | |
| | | Single nucleotide variant (missense variant +2 more) | Amelogenesis imperfecta hypomaturation type 2A4 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
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