Links from Orgtrack
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Recessive dystrophic epidermolysis bullosa | |
| | | Microsatellite (frameshift variant) | Premature ovarian failure 15 | GLikely pathogenic, low penetrance |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Lynch syndrome | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_indel +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Duplication (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Duplication (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Melanoma and neural system tumor syndrome +5 more | GPathogenic/Likely pathogenic |
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