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 |
|---|---|---|---|---|---|---|---|
rs1555075781 | rs1555075781 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs1555075781 | rs1555075781 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs1591546645 | rs1591546645 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs1591546645 | rs1591546645 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2497388078 | rs2497388078 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2497388078 | rs2497388078 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108257580:AC:A | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108257580:AC:A | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2497388625 | rs2497388625 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2497388625 | rs2497388625 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2135408030 | rs2135408030 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2135408030 | rs2135408030 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2080584788 | rs2080584788 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2080584788 | rs2080584788 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108257596:ACTGTACCAAGGTAAGATTTT:A | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108257596:ACTGTACCAAGGTAAGATTTT:A | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2497389201 | rs2497389201 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs2497389201 | rs2497389201 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.KwPNEPCGWpn0sjvjX7JZDBU56u044t69 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
null | ga4gh:VA.KwPNEPCGWpn0sjvjX7JZDBU56u044t69 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2497389469 | rs2497389469 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2497389469 | rs2497389469 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs730881347 | ga4gh:VA.aVuQgzrIYZlvpV45jIyjRXzVZY0iBbel | ClinVar: pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|not provided | |
rs730881347 | ga4gh:VA.aVuQgzrIYZlvpV45jIyjRXzVZY0iBbel | ClinVar: pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|not provided | |
rs730881347 | ga4gh:VA.1SQqCg78ftWj0nbJzwaZBNyibKnZU_yI | ClinVar: likely_pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome | |
rs730881347 | ga4gh:VA.1SQqCg78ftWj0nbJzwaZBNyibKnZU_yI | ClinVar: likely_pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome | |
rs2497389540 | rs2497389540 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2497389540 | rs2497389540 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs730881347 | ga4gh:VA.BROh2GyIbjY0Ib_WOJXxW5iqucc5y6OL | 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 | |
rs730881347 | ga4gh:VA.BROh2GyIbjY0Ib_WOJXxW5iqucc5y6OL | 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 | |
rs2135408476 | ga4gh:VA.rCVzOP-Vcvui8ZTqy3_jrMd72dGdqR1y | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135408476 | ga4gh:VA.rCVzOP-Vcvui8ZTqy3_jrMd72dGdqR1y | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135408476 | ga4gh:VA.WDFP2kzWnPH_47UN7LGyyKLNwm4a0v29 | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135408476 | ga4gh:VA.WDFP2kzWnPH_47UN7LGyyKLNwm4a0v29 | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1057516553 | rs1057516553 | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1057516553 | rs1057516553 | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108258985:G:GA | ClinVar: likely_pathogenic (1★) — Hereditary breast ovarian cancer syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary breast ovarian cancer syndrome | |
null | 11:108258985:G:GA | ClinVar: likely_pathogenic (1★) — Hereditary breast ovarian cancer syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary breast ovarian cancer syndrome | |
rs1057516980 | rs1057516980 | 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 | |
rs1057516980 | rs1057516980 | 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 | |
rs2497416677 | rs2497416677 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2497416677 | rs2497416677 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2497417047 | rs2497417047 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2497417047 | rs2497417047 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108259008:CT:C | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108259008:CT:C | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2497417818 | rs2497417818 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2497417818 | rs2497417818 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135421164 | rs2135421164 | 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 | |
rs2135421164 | rs2135421164 | 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 | 11:108259017:TC:GA | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108259017:TC:GA | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108259017:TC:T | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108259017:TC:T | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs780619951 | rs780619951 | ClinVar: pathogenic (3★) — ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome|not provided|Malignant tumor of urinary bladder | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome|not provided|Malignant tumor of urinary bladder | |
rs780619951 | rs780619951 | ClinVar: pathogenic (3★) — ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome|not provided|Malignant tumor of urinary bladder | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome|not provided|Malignant tumor of urinary bladder | |
rs2135421629 | rs2135421629 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135421629 | rs2135421629 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108259034:TCAA:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108259034:TCAA:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs730881348 | ga4gh:VA.GJ1k4m3YWukaHgME812M_g7ptdSyCH73 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial colorectal cancer type X|Familial cancer of breast|Ataxia-telangiectasia syndrome|Malignant tumor of breast | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Familial colorectal cancer type X|Familial cancer of breast|Ataxia-telangiectasia syndrome|Malignant tumor of breast | |
rs730881348 | ga4gh:VA.GJ1k4m3YWukaHgME812M_g7ptdSyCH73 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial colorectal cancer type X|Familial cancer of breast|Ataxia-telangiectasia syndrome|Malignant tumor of breast | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Familial colorectal cancer type X|Familial cancer of breast|Ataxia-telangiectasia syndrome|Malignant tumor of breast | |
rs2497419319 | 11:108259035: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 | |
rs2497419319 | 11:108259035: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 | |
rs2497419319 | 11:108259035: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 | |
rs2497419319 | 11:108259035: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 | |
rs730881348 | ga4gh:VA.Qfc5ZNk0ZMZaLcRbYL1oKUMXhY6_q4o7 | 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 | |
rs730881348 | ga4gh:VA.Qfc5ZNk0ZMZaLcRbYL1oKUMXhY6_q4o7 | 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 | |
rs201909756 | rs201909756 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs201909756 | rs201909756 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2135421772 | rs2135421772 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135421772 | rs2135421772 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135421887 | rs2135421887 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135421887 | rs2135421887 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1565400045 | rs1565400045 | ClinVar: pathogenic (1★) — Neoplasm|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Neoplasm|Ataxia-telangiectasia syndrome | |
rs1565400045 | rs1565400045 | ClinVar: pathogenic (1★) — Neoplasm|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Neoplasm|Ataxia-telangiectasia syndrome | |
rs2135422280 | rs2135422280 | ClinVar: pathogenic (2★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2135422280 | rs2135422280 | ClinVar: pathogenic (2★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2080701196 | rs2080701196 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATM | not provided | |
rs2080701196 | rs2080701196 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATM | not provided | |
rs2135422352 | rs2135422352 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2135422352 | rs2135422352 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2080701610 | rs2080701610 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2080701610 | rs2080701610 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2135422402 | 11:108259071:G:GT | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135422402 | 11:108259071:G:GT | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135422402 | 11:108259071:G:GTT | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135422402 | 11:108259071:G:GTT | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108259072:TTTAGTAA:T | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108259072:TTTAGTAA:T | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1442299125 | ga4gh:VA.-CtHEE0NRH9vuwW7BvXphU42dx2GIEEC | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Malignant tumor of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Malignant tumor of breast | |
rs1442299125 | ga4gh:VA.-CtHEE0NRH9vuwW7BvXphU42dx2GIEEC | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Malignant tumor of breast | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Malignant tumor of breast | |
rs1442299125 | ga4gh:VA.CGPlw70cY6j0uhfyzyhQhncpdwqnqOQs | ClinVar: pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs1442299125 | ga4gh:VA.CGPlw70cY6j0uhfyzyhQhncpdwqnqOQs | ClinVar: pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs786202783 | rs786202783 | ClinVar: pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs786202783 | rs786202783 | ClinVar: pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs914092098 | rs914092098 | 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 | |
rs914092098 | rs914092098 | 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 | |
rs878853495 | ga4gh:VA._jX_oh8S9ODoB2ulann0BMU-fjKRYRm4 | ClinVar: likely_pathogenic (2★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs878853495 | ga4gh:VA._jX_oh8S9ODoB2ulann0BMU-fjKRYRm4 | ClinVar: likely_pathogenic (2★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome |
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