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Gene entry

BRCA1

BRCA1 DNA repair associated

Chromosome
17
Cytoband
17q21.31
Variants (rsID)
1,404

BRCA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q21.31). Its official name is “BRCA1 DNA repair associated”. The reference table lists 1404 variants (rsID) for this gene.

Clinically classified variants

1,388 reference-table entries with clinical significance (first 200 shown).

  • rs1060915Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs12516Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1
  • rs149402012Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs149867679Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast|Hereditary breast ovarian cancer syndrome
  • rs16940Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Fanconi anemia, complementation group S|Breast-ovarian cancer, familial, susceptibility to, 1|Pancreatic cancer, susceptibility to, 4|Familial cancer of breast
  • rs16941Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Pancreatic cancer, susceptibility to, 4|Familial cancer of breast|Fanconi anemia, complementation group S|Breast carcinoma|Malignant tumor of breast
  • rs16942Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Breast carcinoma
  • rs1799950Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Ductal breast carcinoma|Familial cancer of breast|Malignant tumor of breast
  • rs1799966Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs1799967Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast
  • rs1800709Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Breast and/or ovarian cancer
  • rs201441987Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs2227945Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs273898672Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Hereditary cancer-predisposing syndrome
  • rs273902770BenignMicrosatelliteBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs28897673Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Breast neoplasm|Hereditary cancer-predisposing syndrome|Endometrial carcinoma
  • rs28897675Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Breast and/or ovarian cancer|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs28897687Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Malignant tumor of breast
  • rs28897689Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Breast and/or ovarian cancer
  • rs28897690Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast and/or ovarian cancer|Malignant tumor of breast
  • rs28897693Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Breast and/or ovarian cancer
  • rs3092995Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome
  • rs397509327Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Breast neoplasm|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Familial cancer of breast
  • rs41286294Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs41286300Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
  • rs4986844Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Breast and/or ovarian cancer
  • rs4986846Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome
  • rs4986847Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs4986850Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs4986852Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs533802049Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Breast neoplasm|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs55650082Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs55680408Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer
  • rs55688530Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Breast and/or ovarian cancer|Malignant tumor of breast
  • rs55720177Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs55725337Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs55874646Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Malignant tumor of breast
  • rs55906931Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer
  • rs56056711Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Malignant tumor of breast
  • rs56128296Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast neoplasm|Hereditary breast ovarian cancer syndrome|Familial cancer of breast|Malignant tumor of breast
  • rs56158747Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast neoplasm|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Familial cancer of breast
  • rs56187033Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs56195342Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs56328013Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs762153716Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs799912Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1
  • rs799917Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast carcinoma
  • rs80356876Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast neoplasm|Hereditary breast ovarian cancer syndrome
  • rs80356909Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80356911Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80356923Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs80356927Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs80356943Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer
  • rs80357015Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Familial cancer of breast
  • rs80357024Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs80357049Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs80357190Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357199Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357245Benignsingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80357270Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357272Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast neoplasm|Hereditary breast ovarian cancer syndrome|Familial cancer of breast
  • rs80357280Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357286Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357309Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
  • rs80357323Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs80357337Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs80357361Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer
  • rs80357407Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357436Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357484Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80358005Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs80358006Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
  • rs80358032Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer
  • rs80358033Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs80358055Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80358057Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80358067Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80358090Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs80358101Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80358105Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Familial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs80358113Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80358169Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80358180Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome
  • rs8176151Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1
  • rs8176153Benignsingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs1060504586Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome
  • rs1351019392Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs199540030Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs273900713Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Familial cancer of breast
  • rs273902771Conflicting interpretationsDeletionBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs273902774Conflicting interpretationsDeletionBreast-ovarian cancer, familial, susceptibility to, 1|Breast and/or ovarian cancer|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs273902776Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast neoplasm
  • rs273902786Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
  • rs28897680Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs28897698Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs369588942Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs369925993Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs371631805Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Breast-ovarian cancer, familial, susceptibility to, 1
  • rs397507204Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs397507226Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs397507234Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs397507241Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast and/or ovarian cancer|Malignant tumor of breast
  • rs398122639Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs398122649Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs398122707Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs41293451Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs431825400Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs483353090Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Carcinoma of colon
  • rs55678461Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs55848034Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast and/or ovarian cancer
  • rs587781684Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome
  • rs587781916Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1
  • rs587782190Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs748876625Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs755427809Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1
  • rs781260818Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs786202534Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs786202898Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs78951648Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast neoplasm|Hereditary breast ovarian cancer syndrome|Familial cancer of breast
  • rs80356854Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80356859Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80356867Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80356884Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80356895Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Familial cancer of breast
  • rs80356910Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80356919Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs80356946Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80356948Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
  • rs80356964Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80356970Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80356972Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80356985Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80357000Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357002Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357005Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357013Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357031Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357036Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs80357041Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs80357047Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
  • rs80357075Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357084Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast and/or ovarian cancer
  • rs80357087Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Breast carcinoma|Hereditary breast ovarian cancer syndrome|Familial cancer of breast|Malignant tumor of breast
  • rs80357088Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357095Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357108Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast and/or ovarian cancer
  • rs80357112Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80357113Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80357132Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80357138Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80357142Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357143Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80357144Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80357147Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast and/or ovarian cancer
  • rs80357159Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80357163Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357169Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357175Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Familial cancer of breast|Malignant tumor of breast
  • rs80357182Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357184Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
  • rs80357217Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357241Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357253Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs80357257Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80357264Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357273Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs80357297Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80357311Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs80357324Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357341Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80357353Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357357Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs80357388Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast neoplasm|Malignant tumor of breast
  • rs80357425Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80357464Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80357465Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast neoplasm|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
  • rs80357488Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs80357501Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80358007Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80358021Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs80358046Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs80358050Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs80358058Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80358084Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Hereditary cancer-predisposing syndrome
  • rs80358104Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80358133Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs80358143Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs80358144Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80358154Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs80358157Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome
  • rs80358170Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs80358179Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Malignant tumor of breast
  • rs80358333Conflicting interpretationsDeletionHereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome
  • rs863224760Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs876658362Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome
  • rs876659772Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs876660005Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1
  • rs876660347Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1
  • rs879254151Conflicting interpretationssingle nucleotide variantHereditary breast ovarian cancer syndrome
  • rs879255495Conflicting interpretationssingle nucleotide variantBreast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.