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 |
|---|---|---|---|---|---|---|---|
rs2497245324 | rs2497245324 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2497245324 | rs2497245324 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs587781347 | rs587781347 | ClinVar: pathogenic (3★) — ATM-related cancer predisposition|Familial colorectal cancer type X|ATM-related disorder|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related cancer predisposition|Familial colorectal cancer type X|ATM-related disorder|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided | |
rs587781347 | rs587781347 | ClinVar: pathogenic (3★) — ATM-related cancer predisposition|Familial colorectal cancer type X|ATM-related disorder|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related cancer predisposition|Familial colorectal cancer type X|ATM-related disorder|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided | |
null | 11:108250869:GAGGTCAAACCTAGAAAGCTCACA:G | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108250869:GAGGTCAAACCTAGAAAGCTCACA:G | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2135321724 | rs2135321724 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135321724 | rs2135321724 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2080104347 | rs2080104347 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2080104347 | rs2080104347 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2080105212 | rs2080105212 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs2080105212 | rs2080105212 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs786203550 | rs786203550 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs786203550 | rs786203550 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2497246164 | rs2497246164 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2497246164 | rs2497246164 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2080106350 | rs2080106350 | ClinVar: pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2080106350 | rs2080106350 | ClinVar: pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1555070947 | rs1555070947 | 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 | |
rs1555070947 | rs1555070947 | 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 | |
rs2497246546 | rs2497246546 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2497246546 | rs2497246546 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2497246577 | rs2497246577 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2497246577 | rs2497246577 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs876658651 | rs876658651 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs876658651 | rs876658651 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2135322862 | rs2135322862 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2135322862 | rs2135322862 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1555070980 | rs1555070980 | ClinVar: pathogenic (3★) — Ataxia-telangiectasia syndrome|not provided|Familial cancer of breast|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|not provided|Familial cancer of breast|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome | |
rs1555070980 | rs1555070980 | ClinVar: pathogenic (3★) — Ataxia-telangiectasia syndrome|not provided|Familial cancer of breast|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|not provided|Familial cancer of breast|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome | |
rs1060501670 | rs1060501670 | ClinVar: pathogenic (2★) — not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs1060501670 | rs1060501670 | ClinVar: pathogenic (2★) — not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs2497247115 | rs2497247115 | ClinVar: pathogenic (1★) — Malignant tumor of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Malignant tumor of breast | |
rs2497247115 | rs2497247115 | ClinVar: pathogenic (1★) — Malignant tumor of breast | genotype: homozygous (two copies) | null | cancer | ATM | Malignant tumor of breast | |
rs2135323409 | rs2135323409 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135323409 | rs2135323409 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1555070994 | rs1555070994 | 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 | |
rs1555070994 | rs1555070994 | 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 | |
rs879254093 | rs879254093 | ClinVar: pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|not provided | |
rs879254093 | rs879254093 | ClinVar: pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|not provided | |
rs2080108960 | rs2080108960 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2080108960 | rs2080108960 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs377597949 | rs377597949 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Abnormal central motor function|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Abnormal central motor function|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to | |
rs377597949 | rs377597949 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Abnormal central motor function|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Abnormal central motor function|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to | |
rs1555071002 | rs1555071002 | 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 | |
rs1555071002 | rs1555071002 | 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 | |
rs2135323866 | rs2135323866 | 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 | |
rs2135323866 | rs2135323866 | 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 | |
rs2080109832 | rs2080109832 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2080109832 | rs2080109832 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108250935:TA:T | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108250935:TA:T | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108250937:C:CCT | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
null | 11:108250937:C:CCT | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs1565383194 | rs1565383194 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1565383194 | rs1565383194 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2497248342 | rs2497248342 | 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 | |
rs2497248342 | rs2497248342 | 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 | |
rs2135324290 | rs2135324290 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs2135324290 | rs2135324290 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs2497248654 | rs2497248654 | 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 | |
rs2497248654 | rs2497248654 | 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 | |
rs1064795556 | rs1064795556 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATM | not provided | |
rs1064795556 | rs1064795556 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATM | not provided | |
rs2497248883 | rs2497248883 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2497248883 | rs2497248883 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2135324604 | rs2135324604 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135324604 | rs2135324604 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108250959:G:GC | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108250959:G:GC | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1555071075 | rs1555071075 | 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 | |
rs1555071075 | rs1555071075 | 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 | 11:108250963:ATACAAGCTGAAAACTTT:A | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108250963:ATACAAGCTGAAAACTTT:A | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1281817400 | rs1281817400 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Malignant tumor of urinary bladder|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Malignant tumor of urinary bladder|Ataxia-telangiectasia syndrome | |
rs1281817400 | rs1281817400 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Malignant tumor of urinary bladder|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Malignant tumor of urinary bladder|Ataxia-telangiectasia syndrome | |
rs2497249377 | rs2497249377 | ClinVar: pathogenic (1★) — Malignant tumor of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Malignant tumor of breast | |
rs2497249377 | rs2497249377 | ClinVar: pathogenic (1★) — Malignant tumor of breast | genotype: homozygous (two copies) | null | cancer | ATM | Malignant tumor of breast | |
rs1555071103 | rs1555071103 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1555071103 | rs1555071103 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1060501529 | rs1060501529 | 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 | |
rs1060501529 | rs1060501529 | 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 | 11:108250982:GC:G | 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 | 11:108250982:GC:G | 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 | |
rs2080114187 | rs2080114187 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2080114187 | rs2080114187 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135325561 | rs2135325561 | 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 | |
rs2135325561 | rs2135325561 | 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 | |
rs786204737 | rs786204737 | 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 | |
rs786204737 | rs786204737 | 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 | |
rs2080115075 | rs2080115075 | ClinVar: likely_pathogenic (1★) — Malignant tumor of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Malignant tumor of breast | |
rs2080115075 | rs2080115075 | ClinVar: likely_pathogenic (1★) — Malignant tumor of breast | genotype: homozygous (two copies) | null | cancer | ATM | Malignant tumor of breast | |
rs2080115284 | rs2080115284 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs2080115284 | rs2080115284 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs1591524613 | rs1591524613 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1591524613 | rs1591524613 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs865985297 | rs865985297 | ClinVar: pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of urinary bladder|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of urinary bladder|Ataxia-telangiectasia syndrome | |
rs865985297 | rs865985297 | ClinVar: pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of urinary bladder|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of urinary bladder|Ataxia-telangiectasia syndrome | |
rs2497251101 | rs2497251101 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs2497251101 | rs2497251101 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome |
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