Links from Orgtrack
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant +1 more) | Multiple endocrine neoplasia, type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple endocrine neoplasia, type 1 | |
| | | Deletion (frameshift variant +1 more) | Multiple endocrine neoplasia, type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple endocrine neoplasia, type 1 | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 1 | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Multiple endocrine neoplasia, type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Multiple endocrine neoplasia, type 1 | |
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