Links from Orgtrack
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (non-coding transcript variant) | not specified | |
| | | Duplication (nonsense +2 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Lynch syndrome 1 +1 more | GConflicting classifications of pathogenicity |
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