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 |
|---|---|---|---|---|---|---|---|
rs1555127151 | rs1555127151 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | |
rs1555127151 | rs1555127151 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | |
rs2547330172 | rs2547330172 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547330172 | rs2547330172 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1555127157 | rs1555127157 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs1555127157 | rs1555127157 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
null | 11:108335039:GA:G | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108335039:GA:G | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | ga4gh:VA.ZSIQMhQeiQ25bXfJfzTsMBBvEup7_T8- | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.ZSIQMhQeiQ25bXfJfzTsMBBvEup7_T8- | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2086682689 | 11:108335054:C:CA | 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 | |
rs2086682689 | 11:108335054:CA:C | 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 | |
rs2086682689 | 11:108335054:C:CA | 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 | |
rs2086682689 | 11:108335054:CA:C | 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 | |
rs758588019 | rs758588019 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Inherited breast cancer and ovarian cancer|not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Inherited breast cancer and ovarian cancer|not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs758588019 | rs758588019 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Inherited breast cancer and ovarian cancer|not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Inherited breast cancer and ovarian cancer|not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2136661064 | rs2136661064 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136661064 | rs2136661064 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1064793406 | rs1064793406 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1064793406 | rs1064793406 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2547330771 | rs2547330771 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2547330771 | rs2547330771 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
null | ga4gh:VA.VlpK6Lx4-JmjfN2lGvCzOrAdgqeakmCf | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | ga4gh:VA.VlpK6Lx4-JmjfN2lGvCzOrAdgqeakmCf | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs876659735 | rs876659735 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs876659735 | rs876659735 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs1555127231 | rs1555127231 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1555127231 | rs1555127231 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136661900 | rs2136661900 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136661900 | rs2136661900 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108335077:T:TC | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108335077:T:TC | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs587782719 | ga4gh:VA.pESzg0cEYTF7pnNqnrlklud7ucmCYoDd | ClinVar: pathogenic (2★) — ATM-related cancer predisposition|Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast and/or ovarian cancer|Familial prostate cancer|not provided|Hereditary breast ovarian cancer syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related cancer predisposition|Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast and/or ovarian cancer|Familial prostate cancer|not provided|Hereditary breast ovarian cancer syndrome | |
rs587782719 | ga4gh:VA.pESzg0cEYTF7pnNqnrlklud7ucmCYoDd | ClinVar: pathogenic (2★) — ATM-related cancer predisposition|Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast and/or ovarian cancer|Familial prostate cancer|not provided|Hereditary breast ovarian cancer syndrome | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related cancer predisposition|Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast and/or ovarian cancer|Familial prostate cancer|not provided|Hereditary breast ovarian cancer syndrome | |
rs587782719 | ga4gh:VA.vPRhh3zzyvZah4FKaS4QanSV2ntgTHY_ | ClinVar: likely_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 | |
rs587782719 | ga4gh:VA.vPRhh3zzyvZah4FKaS4QanSV2ntgTHY_ | ClinVar: likely_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 | |
rs2547331166 | rs2547331166 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547331166 | rs2547331166 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs587781990 | rs587781990 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs587781990 | rs587781990 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs1591192266 | rs1591192266 | ClinVar: pathogenic (2★) — Colorectal cancer|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Colorectal cancer|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs1591192266 | rs1591192266 | ClinVar: pathogenic (2★) — Colorectal cancer|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Colorectal cancer|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
null | 11:108335085:CA:C | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108335085:CA:C | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2136663735 | rs2136663735 | 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 | |
rs2136663735 | rs2136663735 | 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 | |
null | ga4gh:VA.wBuGLTmwbO5P7JL4chonXVQzX1qqWlUk | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.wBuGLTmwbO5P7JL4chonXVQzX1qqWlUk | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs2547331436 | rs2547331436 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2547331436 | rs2547331436 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2136664276 | rs2136664276 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136664276 | rs2136664276 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547331529 | rs2547331529 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2547331529 | rs2547331529 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2086690343 | rs2086690343 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATM | not provided | |
rs2086690343 | rs2086690343 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATM | not provided | |
rs1060501695 | rs1060501695 | ClinVar: pathogenic (2★) — Breast and/or ovarian cancer|not provided|Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Breast and/or ovarian cancer|not provided|Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1060501695 | rs1060501695 | ClinVar: pathogenic (2★) — Breast and/or ovarian cancer|not provided|Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Breast and/or ovarian cancer|not provided|Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2547331780 | rs2547331780 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547331780 | rs2547331780 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1565541335 | rs1565541335 | ClinVar: likely_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 | |
rs1565541335 | rs1565541335 | ClinVar: likely_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 | |
rs730881385 | rs730881385 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided | |
rs730881385 | rs730881385 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided | |
rs587782652 | rs587782652 | ClinVar: pathogenic (2★) — ATM-related disorder|Uterine corpus cancer|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast and/or ovarian cancer|not provided|Breast carcinoma|Tip-toe gait | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related disorder|Uterine corpus cancer|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast and/or ovarian cancer|not provided|Breast carcinoma|Tip-toe gait | |
rs587782652 | rs587782652 | ClinVar: pathogenic (2★) — ATM-related disorder|Uterine corpus cancer|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast and/or ovarian cancer|not provided|Breast carcinoma|Tip-toe gait | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related disorder|Uterine corpus cancer|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast and/or ovarian cancer|not provided|Breast carcinoma|Tip-toe gait | |
rs774334667 | rs774334667 | 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 | |
rs774334667 | rs774334667 | 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 | |
rs1555127353 | rs1555127353 | 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 | |
rs1555127353 | rs1555127353 | 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 | |
rs1591192583 | ga4gh:VA.QDMTQOXGnIzy7Z5Od3ER9Wihu2G69sme | 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 | |
rs1591192583 | ga4gh:VA.QDMTQOXGnIzy7Z5Od3ER9Wihu2G69sme | 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 | |
rs1591192583 | ga4gh:VA.Q6OZ80fu0a8u4UZc9CEEbEi1rP52cQ8N | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1591192583 | ga4gh:VA.Q6OZ80fu0a8u4UZc9CEEbEi1rP52cQ8N | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1591192583 | ga4gh:VA.YLuZJDU_kDt2_kPHOxb3bfY69-YN8j5u | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs1591192583 | ga4gh:VA.YLuZJDU_kDt2_kPHOxb3bfY69-YN8j5u | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
null | ga4gh:VA.8Ysji3LV9nRffCbAYAZgTSdAzetEFRYk | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | ga4gh:VA.8Ysji3LV9nRffCbAYAZgTSdAzetEFRYk | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs777602049 | rs777602049 | 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 | |
rs777602049 | rs777602049 | 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 | |
rs2547344882 | rs2547344882 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547344882 | rs2547344882 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs1398616877 | ga4gh:VA.TIYQ4MIv2BY8FsqqEmZye9fZyv0oVqTe | 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 | |
rs1398616877 | ga4gh:VA.TIYQ4MIv2BY8FsqqEmZye9fZyv0oVqTe | 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 | |
rs1398616877 | ga4gh:VA.lCWK5jWXpaTWti6nBfwPa8ae0lEruYaY | 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 | |
rs1398616877 | ga4gh:VA.lCWK5jWXpaTWti6nBfwPa8ae0lEruYaY | 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 | |
rs2547344968 | rs2547344968 | 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 | |
rs2547344968 | rs2547344968 | 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 | |
rs876659066 | rs876659066 | ClinVar: likely_pathogenic (3★) — Hereditary cancer-predisposing syndrome|ATM-related cancer predisposition|not specified|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|ATM-related cancer predisposition|not specified|Ataxia-telangiectasia syndrome | |
rs876659066 | rs876659066 | ClinVar: likely_pathogenic (3★) — Hereditary cancer-predisposing syndrome|ATM-related cancer predisposition|not specified|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|ATM-related cancer predisposition|not specified|Ataxia-telangiectasia syndrome | |
rs2547345248 | rs2547345248 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547345248 | rs2547345248 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108335858:TGA:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108335858:TGA:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2086784990 | rs2086784990 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|ATM-related disorder|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|ATM-related disorder|Ataxia-telangiectasia syndrome | |
rs2086784990 | rs2086784990 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|ATM-related disorder|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|ATM-related disorder|Ataxia-telangiectasia syndrome | |
rs2547345896 | rs2547345896 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547345896 | rs2547345896 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2547345881 | rs2547345881 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547345881 | rs2547345881 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome |
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