rsid large_stringlengths 5 12 ⌀ | variant_key large_stringlengths 5 111 ⌀ | conclusion large_stringlengths 10 1.08k ⌀ | negatives large_stringclasses 0
values | module large_stringclasses 10
values | gene large_stringlengths 0 12 ⌀ | phenotype large_stringlengths 0 1.02k ⌀ | category large_stringclasses 13
values |
|---|---|---|---|---|---|---|---|
rs2547419235 | rs2547419235 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547419235 | rs2547419235 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2136952289 | rs2136952289 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2136952289 | rs2136952289 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs1555135852 | rs1555135852 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast | |
rs1555135852 | rs1555135852 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast | |
rs1591249359 | rs1591249359 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast | |
rs1591249359 | rs1591249359 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast | |
rs2136953216 | rs2136953216 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136953216 | rs2136953216 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2087842345 | rs2087842345 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2087842345 | rs2087842345 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs1591249480 | rs1591249480 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs1591249480 | rs1591249480 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2136953867 | rs2136953867 | ClinVar: likely_pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2136953867 | rs2136953867 | ClinVar: likely_pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs762744146 | rs762744146 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs762744146 | rs762744146 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs730881295 | rs730881295 | ClinVar: pathogenic (2★) — ATM-related disorder|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|not provided|Carcinoma of colon|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related disorder|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|not provided|Carcinoma of colon|Familial cancer of breast | |
rs730881295 | rs730881295 | ClinVar: pathogenic (2★) — ATM-related disorder|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|not provided|Carcinoma of colon|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related disorder|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|not provided|Carcinoma of colon|Familial cancer of breast | |
rs766533795 | rs766533795 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs766533795 | rs766533795 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
null | ga4gh:VA.nP_aT1nQ60lQe7N1bhw5AMhiaEZZ9Adq | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.nP_aT1nQ60lQe7N1bhw5AMhiaEZZ9Adq | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1060501713 | rs1060501713 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs1060501713 | rs1060501713 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
null | ga4gh:VA.eEpkGEY6POZABsms4kj63GEwZMnlTdgr | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | ga4gh:VA.eEpkGEY6POZABsms4kj63GEwZMnlTdgr | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1305740166 | rs1305740166 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast | |
rs1305740166 | rs1305740166 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast | |
rs2547441708 | rs2547441708 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547441708 | rs2547441708 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs1555137917 | ga4gh:VA.DoUfXXpy6MrgymrKdLJfiQyosW7vGmNl | ClinVar: likely_pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1555137917 | ga4gh:VA.DoUfXXpy6MrgymrKdLJfiQyosW7vGmNl | ClinVar: likely_pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1555137917 | ga4gh:VA.ArUPdLfhn-lRAuWsOoiWMaKP9jB7ILIY | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1555137917 | ga4gh:VA.ArUPdLfhn-lRAuWsOoiWMaKP9jB7ILIY | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2137023331 | rs2137023331 | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2137023331 | rs2137023331 | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1555137920 | ga4gh:VA.zSy_SAuvH_W9xfNq76CJNZMYC8tK6dZZ | ClinVar: likely_pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs1555137920 | ga4gh:VA.zSy_SAuvH_W9xfNq76CJNZMYC8tK6dZZ | ClinVar: likely_pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs1555137920 | ga4gh:VA.lC5SjppBJr6r7nvs7kab67eiRSxtLyNJ | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1555137920 | ga4gh:VA.lC5SjppBJr6r7nvs7kab67eiRSxtLyNJ | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1555137929 | rs1555137929 | ClinVar: pathogenic (2★) — ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1555137929 | rs1555137929 | ClinVar: pathogenic (2★) — ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2547441968 | rs2547441968 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547441968 | rs2547441968 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs587782558 | 11:108345749:C:CA | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs587782558 | 11:108345749:CA:C | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs587782558 | 11:108345749:C:CA | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs587782558 | 11:108345749:CA:C | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1555137973 | rs1555137973 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1555137973 | rs1555137973 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1131691158 | rs1131691158 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast | |
rs1131691158 | rs1131691158 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast | |
rs2547442238 | rs2547442238 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547442238 | rs2547442238 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108345756:AG:A | ClinVar: pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Hereditary cancer-predisposing syndrome | |
null | 11:108345756:AG:A | ClinVar: pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Hereditary cancer-predisposing syndrome | |
rs767533596 | rs767533596 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs767533596 | rs767533596 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs991405942 | rs991405942 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs991405942 | rs991405942 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1591264194 | rs1591264194 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1591264194 | rs1591264194 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs752526400 | rs752526400 | ClinVar: pathogenic (2★) — not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs752526400 | rs752526400 | ClinVar: pathogenic (2★) — not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
null | 11:108345764:G:GA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108345764:G:GA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2137025722 | rs2137025722 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2137025722 | rs2137025722 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
null | 11:108345769:G:GA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108345769:G:GA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2137026687 | ga4gh:VA.7I1eGYppAa0UvhV5zc_wFg-6xj1eRd4I | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2137026687 | ga4gh:VA.7I1eGYppAa0UvhV5zc_wFg-6xj1eRd4I | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2137026687 | ga4gh:VA.74tNmarNRp2Gq4e-kGi2UC8rrXatjSoA | ClinVar: pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2137026687 | ga4gh:VA.74tNmarNRp2Gq4e-kGi2UC8rrXatjSoA | ClinVar: pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2547443017 | rs2547443017 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547443017 | rs2547443017 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2529703104 | rs2529703104 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2529703104 | rs2529703104 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2137027657 | rs2137027657 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2137027657 | rs2137027657 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547443244 | rs2547443244 | ClinVar: pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Hereditary cancer-predisposing syndrome | |
rs2547443244 | rs2547443244 | ClinVar: pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Hereditary cancer-predisposing syndrome | |
rs1555138090 | rs1555138090 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs1555138090 | rs1555138090 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2137028850 | rs2137028850 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2137028850 | rs2137028850 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs786203272 | 11:108345797:C:CA | ClinVar: pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs786203272 | 11:108345797:C:CA | ClinVar: pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs786203272 | 11:108345797:C:CAA | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast|Hereditary cancer-predisposing syndrome | |
rs786203272 | 11:108345797:C:CAA | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast|Hereditary cancer-predisposing syndrome | |
rs587781363 | rs587781363 | ClinVar: pathogenic (3★) — ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs587781363 | rs587781363 | ClinVar: pathogenic (3★) — ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
null | 11:108345797:CA:C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108345797:CA:C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2088278756 | rs2088278756 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2088278756 | rs2088278756 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
null | 11:108345801:ATT:A | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108345801:ATT:A | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast |
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