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 |
|---|---|---|---|---|---|---|---|
rs1591731851 | 11:108307907:C:CT | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1591731851 | 11:108307907:CT:C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1591731851 | 11:108307907:C:CT | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1591731851 | 11:108307907:CT:C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs775036118 | rs775036118 | ClinVar: pathogenic (3★) — not provided|Ataxia-telangiectasia syndrome|Malignant tumor of urinary bladder|Familial cancer of breast|Gastric cancer|Inherited breast cancer and ovarian cancer|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Ataxia-telangiectasia syndrome|Malignant tumor of urinary bladder|Familial cancer of breast|Gastric cancer|Inherited breast cancer and ovarian cancer|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome | |
rs775036118 | rs775036118 | ClinVar: pathogenic (3★) — not provided|Ataxia-telangiectasia syndrome|Malignant tumor of urinary bladder|Familial cancer of breast|Gastric cancer|Inherited breast cancer and ovarian cancer|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Ataxia-telangiectasia syndrome|Malignant tumor of urinary bladder|Familial cancer of breast|Gastric cancer|Inherited breast cancer and ovarian cancer|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome | |
rs753839301 | rs753839301 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|not provided | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|not provided | |
rs753839301 | rs753839301 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|not provided | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|not provided | |
rs2468070263 | rs2468070263 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2468070263 | rs2468070263 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2547005376 | rs2547005376 | ClinVar: pathogenic (2★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547005376 | rs2547005376 | ClinVar: pathogenic (2★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2547005490 | rs2547005490 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs2547005490 | rs2547005490 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs2547005499 | rs2547005499 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547005499 | rs2547005499 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs587781730 | 11:108307928:T:TA | ClinVar: pathogenic (2★) — Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided|Malignant tumor of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided|Malignant tumor of breast | |
rs587781730 | 11:108307928:TA:T | ClinVar: pathogenic (2★) — Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided|Malignant tumor of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided|Malignant tumor of breast | |
rs587781730 | 11:108307928:T:TA | ClinVar: pathogenic (2★) — Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided|Malignant tumor of breast | genotype: homozygous (two copies) | null | cancer | ATM | Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided|Malignant tumor of breast | |
rs587781730 | 11:108307928:TA:T | ClinVar: pathogenic (2★) — Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided|Malignant tumor of breast | genotype: homozygous (two copies) | null | cancer | ATM | Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided|Malignant tumor of breast | |
rs765027485 | rs765027485 | 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 | |
rs765027485 | rs765027485 | 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 | |
rs2547005564 | rs2547005564 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547005564 | rs2547005564 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135976833 | rs2135976833 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2135976833 | rs2135976833 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2135976898 | rs2135976898 | 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 | |
rs2135976898 | rs2135976898 | 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 | |
null | 11:108307938:CA:C | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108307938:CA:C | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs1555109102 | rs1555109102 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs1555109102 | rs1555109102 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs1591732123 | rs1591732123 | 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 | |
rs1591732123 | rs1591732123 | 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 | |
null | 11:108307941:AGA:GG | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108307941:AGA:GG | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2135977126 | rs2135977126 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135977126 | rs2135977126 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1565486174 | rs1565486174 | 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 | |
rs1565486174 | rs1565486174 | 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 | |
rs2135977494 | 11:108307956:G:GT | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135977494 | 11:108307956:GT:G | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135977494 | 11:108307956:G:GT | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135977494 | 11:108307956:GT:G | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135977542 | rs2135977542 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135977542 | rs2135977542 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2083821626 | rs2083821626 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2083821626 | rs2083821626 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1555109147 | rs1555109147 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|Ataxia-telangiectasia syndrome | |
rs1555109147 | rs1555109147 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|Ataxia-telangiectasia syndrome | |
rs2135977760 | rs2135977760 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135977760 | rs2135977760 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108307967:CAT:C | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108307967:CAT:C | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108307969:TGA:T | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108307969:TGA:T | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | ga4gh:VA.U138-7PWcXXi0z3DnF7YhAmsljjmlJKE | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | ga4gh:VA.U138-7PWcXXi0z3DnF7YhAmsljjmlJKE | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2083823146 | rs2083823146 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Breast carcinoma|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Breast carcinoma|Familial cancer of breast | |
rs2083823146 | rs2083823146 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Breast carcinoma|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Breast carcinoma|Familial cancer of breast | |
null | 11:108307977:CA:C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108307977:CA:C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1555109177 | rs1555109177 | 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 | |
rs1555109177 | rs1555109177 | 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 | |
rs1591732424 | rs1591732424 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1591732424 | rs1591732424 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1565486341 | rs1565486341 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1565486341 | rs1565486341 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1060501527 | rs1060501527 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1060501527 | rs1060501527 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs869312756 | ga4gh:VA.1HgMfF95L6kMwEVRJI5DGtvy2uKadwZJ | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided | |
rs869312756 | ga4gh:VA.1HgMfF95L6kMwEVRJI5DGtvy2uKadwZJ | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided | |
rs869312756 | ga4gh:VA.a10sv0pJ65jR6q3WAbvItjmwCCMGEHws | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Breast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Breast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs869312756 | ga4gh:VA.a10sv0pJ65jR6q3WAbvItjmwCCMGEHws | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Breast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Breast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs774925473 | rs774925473 | ClinVar: pathogenic (3★) — ATM-related disorder|ATM-related cancer predisposition|Familial colorectal cancer type X|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Breast and/or ovarian cancer|not provided|Ataxia - telangiectasia variant | genotype: heterozygous (one cop... | null | cancer | ATM | ATM-related disorder|ATM-related cancer predisposition|Familial colorectal cancer type X|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Breast and/or ovarian cancer|not provided|Ataxia - telangiectasia variant | |
rs774925473 | rs774925473 | ClinVar: pathogenic (3★) — ATM-related disorder|ATM-related cancer predisposition|Familial colorectal cancer type X|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Breast and/or ovarian cancer|not provided|Ataxia - telangiectasia variant | genotype: homozygous (two copie... | null | cancer | ATM | ATM-related disorder|ATM-related cancer predisposition|Familial colorectal cancer type X|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Breast and/or ovarian cancer|not provided|Ataxia - telangiectasia variant | |
rs2547025082 | rs2547025082 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547025082 | rs2547025082 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108310141:ATATCTCATTTTTCTTTAGACCTTCT:A | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108310141:ATATCTCATTTTTCTTTAGACCTTCT:A | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs876659489 | ga4gh:VA.YbCy5Mmf7qrmSBYe03uPsRPyTDcxNI0u | 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 | |
rs876659489 | ga4gh:VA.YbCy5Mmf7qrmSBYe03uPsRPyTDcxNI0u | 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 | |
rs876659489 | ga4gh:VA.QkPRIOUl_RaeRlseUIqMZ3UjOtD7DIuY | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs876659489 | ga4gh:VA.QkPRIOUl_RaeRlseUIqMZ3UjOtD7DIuY | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs876659489 | ga4gh:VA.s3mP4q7sZbWxl6RpFzPgJ5uM6akjJzya | 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 | |
rs876659489 | ga4gh:VA.s3mP4q7sZbWxl6RpFzPgJ5uM6akjJzya | 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 | |
rs2136011029 | ga4gh:VA.U0mwqs-TnwzGwLIs5x-TljawEhXtNmFf | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136011029 | ga4gh:VA.U0mwqs-TnwzGwLIs5x-TljawEhXtNmFf | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136011029 | ga4gh:VA.GdQr1PdpD__830uYIVMLpm5qzpvOXNB3 | ClinVar: pathogenic (3★) — Ataxia-telangiectasia syndrome|Familial cancer of breast|ATM-related cancer predisposition | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast|ATM-related cancer predisposition | |
rs2136011029 | ga4gh:VA.GdQr1PdpD__830uYIVMLpm5qzpvOXNB3 | ClinVar: pathogenic (3★) — Ataxia-telangiectasia syndrome|Familial cancer of breast|ATM-related cancer predisposition | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast|ATM-related cancer predisposition | |
null | ga4gh:VA.uEbZS8iME_4spB9QPKyGdXRyrZ7un_Rp | ClinVar: pathogenic (2★) — not provided|Familial colorectal cancer type X | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Familial colorectal cancer type X | |
null | ga4gh:VA.uEbZS8iME_4spB9QPKyGdXRyrZ7un_Rp | ClinVar: pathogenic (2★) — not provided|Familial colorectal cancer type X | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Familial colorectal cancer type X | |
rs786202814 | rs786202814 | 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 | |
rs786202814 | rs786202814 | 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 | |
rs2547025965 | rs2547025965 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547025965 | rs2547025965 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108310167:TC:T | 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 | 11:108310167:TC:T | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs876658831 | rs876658831 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | |
rs876658831 | rs876658831 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast |
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