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Gene entry

ATM

ATM serine/threonine kinase

Chromosome
11
Cytoband
11q22.3
Variants (rsID)
215

ATM is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q22.3). Its official name is “ATM serine/threonine kinase”. The reference table lists 215 variants (rsID) for this gene.

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Clinically classified variants

202 reference-table entries with clinical significance (first 200 shown).

  • rs143097772Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs149711770Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Familial cancer of breast|Breast and/or ovarian cancer
  • rs1800056Benignsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Carcinoma of colon|Toe walking|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
  • rs201686625Benignsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs2227924Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Hereditary breast ovarian cancer syndrome
  • rs2235000Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
  • rs3092856Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Hereditary breast ovarian cancer syndrome
  • rs3092857Benignsingle nucleotide variantB-cell non-Hodgkin lymphoma|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome|Familial cancer of breast
  • rs3218674Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
  • rs3218695Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
  • rs3218707Benignsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
  • rs370680798Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast
  • rs4986761Benignsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs4986839Benignsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
  • rs4987951Benignsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs56252953Benignsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs1057520447Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome
  • rs1057522291Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs1060504273Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs139552233Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast|Familial cancer of breast|Breast and/or ovarian cancer
  • rs140856217Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs144535256Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs144761622Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Hereditary breast ovarian cancer syndrome
  • rs146531614Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Malignant tumor of breast|Familial cancer of breast
  • rs147934285Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
  • rs148191382Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast
  • rs148993589Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast
  • rs1800058Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
  • rs188404773Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast
  • rs199954262Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast
  • rs200151849Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome
  • rs200601781Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast
  • rs201222237Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast
  • rs201666889Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Familial cancer of breast|Malignant tumor of breast
  • rs201773026Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs202144949Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast|Familial cancer of breast
  • rs202206540Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast|Familial cancer of breast
  • rs28904919Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
  • rs3092907Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast
  • rs3218690Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
  • rs3218699Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs34231402Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Familial ovarian cancer|Breast and/or ovarian cancer
  • rs34640941Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Familial cancer of breast|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs35578748Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs370269552Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast
  • rs372569168Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs374431061Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs376116157Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs376521407Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs4988008Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
  • rs55719759Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs55801750Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast|Breast and/or ovarian cancer|Familial cancer of breast
  • rs56009889Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast
  • rs56075338Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast
  • rs56128736Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Carcinoma of colon|Familial cancer of breast|Breast and/or ovarian cancer
  • rs56360226Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial ovarian cancer
  • rs56399311Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Breast carcinoma
  • rs566485657Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Endometrial carcinoma
  • rs567060474Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Toe walking
  • rs587779829Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast
  • rs587779841Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs587780626Conflicting interpretationsDeletionAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs587780636Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs587780641Conflicting interpretationsDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs587780856Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs587781375Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast
  • rs587782506Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs61734354Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Malignant tumor of breast
  • rs730881369Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs747153940Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs753646931Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs756160533Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs759951393Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast
  • rs762092284Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs774281788Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Hereditary cancer|Ataxia-telangiectasia syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast|Familial cancer of breast
  • rs786201609Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs786202493Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs786203693Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs794728018Conflicting interpretationssingle nucleotide variantBreast cancer, early-onset|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs863224440Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs864622164Conflicting interpretationsDuplicationAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs864622251Conflicting interpretationssingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer
  • rs876658542Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs876658991Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs876659304Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs876660302Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs876660552Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs145301478Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs771378101Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs112805604Likely pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome
  • rs192810283Likely pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs766533795Likely pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome
  • rs796051858Likely pathogenicsingle nucleotide variantAtaxia - telangiectasia variant|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Hereditary breast ovarian cancer syndrome
  • rs864622129Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs864622367Likely pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome
  • rs864622610Likely pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome
  • rs869312754Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs876659350Likely pathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs876660245Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs1057516760PathogenicDuplicationAtaxia-telangiectasia syndrome
  • rs1057516980PathogenicDuplicationAtaxia-telangiectasia syndrome
  • rs1057520640Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs1060501687Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Breast cancer, susceptibility to|Ataxia-telangiectasia syndrome
  • rs1060501700Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs1060501711Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs121434219Pathogenicsingle nucleotide variantAtaxia-telangiectasia without immunodeficiency|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs121434220Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Breast and/or ovarian cancer|Carcinoma of pancreas
  • rs139770721Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast carcinoma|Carcinoma of pancreas|Adenocarcinoma
  • rs147557621Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs28904921Pathogenicsingle nucleotide variantT-cell prolymphocytic leukemia|Breast cancer, susceptibility to|Ataxia - telangiectasia variant|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Breast neoplasm|Familial cancer of breast|Ataxia-telangiectasia syndrome|Familial cancer of breast
  • rs371638537Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial ovarian cancer|Familial cancer of breast
  • rs373226793Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs376170600Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs377349459Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|See cases
  • rs557012154Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs55861249Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome
  • rs587776547PathogenicDeletionT-cell prolymphocytic leukemia|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Breast neoplasm|Familial cancer of breast|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs587776550PathogenicDeletionAtaxia-telangiectasia syndrome
  • rs587776551Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer
  • rs587778080Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Breast cancer, susceptibility to|Ataxia-telangiectasia syndrome|Toe walking
  • rs587779822PathogenicDuplicationHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial pancreatic carcinoma
  • rs587779859PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs587779866Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Familial cancer of breast|Breast and/or ovarian cancer
  • rs587780612PathogenicDeletionAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs587780624PathogenicDeletionAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs587780640PathogenicDeletionAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast
  • rs587780645PathogenicDuplicationAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs587781299PathogenicDuplicationHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast
  • rs587781302Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Breast carcinoma|Abnormal central motor function
  • rs587781347PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Familial cancer of breast
  • rs587781511Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs587781722Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to|Ataxia-telangiectasia syndrome
  • rs587781776PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs587781823PathogenicDuplicationHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs587781831PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Breast cancer, susceptibility to|Ataxia-telangiectasia syndrome
  • rs587781894Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast
  • rs587781967Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs587781971PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs587782085PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs587782124Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs587782192Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs587782198PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs587782660PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs587782719Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs587782812PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs730881293PathogenicMicrosatelliteAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs730881294PathogenicDeletionAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs730881297PathogenicDeletionAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs730881309PathogenicDuplicationHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs730881310PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs730881386Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs747727055Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Breast carcinoma
  • rs747855862Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs750663117Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs752135143Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs758814126PathogenicDeletionAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs759520465Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs759965045PathogenicMicrosatelliteAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs762083530Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Abnormal central motor function
  • rs768362387Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome
  • rs771887195PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs774925473Pathogenicsingle nucleotide variantAtaxia - telangiectasia variant|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs777849257Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast
  • rs778031266Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Ataxia-telangiectasia syndrome|Abnormal central motor function
  • rs781404312Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs786202350PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs786202608PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs786202695PathogenicMicrosatelliteHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs786203008PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to
  • rs786203309Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs797045030PathogenicDuplicationAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs797045114PathogenicDeletionAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs863225466PathogenicMicrosatelliteAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs864622163Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome
  • rs864622185Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Familial cancer of breast
  • rs864622416PathogenicDeletionAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs864622479Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs864622490Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs864622662PathogenicDeletionAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs864622669PathogenicDeletionAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs869312756Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs876658163Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs876658502PathogenicDuplicationHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast
  • rs876658512PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs876658740Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs876659116PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs876659450PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast
  • rs876659672PathogenicDuplicationHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs876659710Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs876660235PathogenicDuplicationHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast
  • rs876660382Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Clear cell carcinoma of kidney
  • rs876660485Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs876660567PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs876660741PathogenicDuplicationHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
  • rs876660865PathogenicDeletionHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Breast and/or ovarian cancer
  • rs876660933Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Abnormal central motor function
  • rs878853490PathogenicDeletionAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs879254093Pathogenicsingle nucleotide variantAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs886041340PathogenicDuplicationAtaxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
  • rs149827260Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast

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.