Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Infiltrating duct carcinoma of breast | |
| | | Duplication (frameshift variant) | Infiltrating duct carcinoma of breast | |
| | | Deletion (frameshift variant) | Infiltrating duct carcinoma of breast | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Ovarian cancer +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not specified +3 more | |
| | BRCA1, LOC126862571 (E1158* +21 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Breast neoplasm +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
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