Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (splice acceptor variant) | Maturity onset diabetes mellitus in young | |
| | | Single nucleotide variant (nonsense) | Adrenoleukodystrophy | |
| | | Single nucleotide variant (missense variant) | Monogenic diabetes | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
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