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 |
|---|---|---|---|---|---|---|---|
rs2547030807 | ga4gh:VA._KFX8JF_3yHx2jUdHVYM7kKdg08VE0Xi | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547030807 | ga4gh:VA._KFX8JF_3yHx2jUdHVYM7kKdg08VE0Xi | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs746623393 | ga4gh:VA.K5erAANe4asoJfZf2CoGhnWF0AVo71sO | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs746623393 | ga4gh:VA.K5erAANe4asoJfZf2CoGhnWF0AVo71sO | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs746623393 | ga4gh:VA.LsdO24feL7j0g1kKl7bD79_tToVUv1WL | 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 | |
rs746623393 | ga4gh:VA.LsdO24feL7j0g1kKl7bD79_tToVUv1WL | 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 | |
rs2084240759 | rs2084240759 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2084240759 | rs2084240759 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108312409:AG:GA | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108312409:AG:GA | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1565493368 | rs1565493368 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs1565493368 | rs1565493368 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2547052413 | rs2547052413 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547052413 | rs2547052413 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs587779852 | rs587779852 | ClinVar: pathogenic (2★) — ATM-related disorder|ATM-related cancer predisposition|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to|Familial cancer of breast|Breast and/or ovarian cancer|Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related disorder|ATM-related cancer predisposition|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to|Familial cancer of breast|Breast and/or ovarian cancer|Hereditary cancer-predisposing syndrome|not provided | |
rs587779852 | rs587779852 | ClinVar: pathogenic (2★) — ATM-related disorder|ATM-related cancer predisposition|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to|Familial cancer of breast|Breast and/or ovarian cancer|Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related disorder|ATM-related cancer predisposition|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to|Familial cancer of breast|Breast and/or ovarian cancer|Hereditary cancer-predisposing syndrome|not provided | |
rs2547052455 | rs2547052455 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547052455 | rs2547052455 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs1555111763 | rs1555111763 | 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 | |
rs1555111763 | rs1555111763 | 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 | |
rs2547052584 | rs2547052584 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547052584 | rs2547052584 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547052544 | rs2547052544 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547052544 | rs2547052544 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2136060057 | rs2136060057 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136060057 | rs2136060057 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1555111775 | rs1555111775 | 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 | |
rs1555111775 | rs1555111775 | 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 | |
rs879254271 | rs879254271 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATM | not provided | |
rs879254271 | rs879254271 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATM | not provided | |
null | 11:108312442:AC:A | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108312442:AC:A | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1555111808 | 11:108312448:A:AT | ClinVar: 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 | |
rs1555111808 | 11:108312448:AT:A | ClinVar: 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 | |
rs1555111808 | 11:108312448:A:AT | ClinVar: 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 | |
rs1555111808 | 11:108312448:AT:A | ClinVar: 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 | |
null | ga4gh:VA.j2242FwzU2BXcf6IByey_ka7ifhpJ5M0 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.j2242FwzU2BXcf6IByey_ka7ifhpJ5M0 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547053369 | rs2547053369 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547053369 | rs2547053369 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1591758604 | rs1591758604 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1591758604 | rs1591758604 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1591758642 | rs1591758642 | 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 | |
rs1591758642 | rs1591758642 | 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 | |
rs786203404 | rs786203404 | 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 | |
rs786203404 | rs786203404 | 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 | |
rs2547053574 | rs2547053574 | 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 | |
rs2547053574 | rs2547053574 | 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 | |
rs876660134 | rs876660134 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|ATM-related cancer predisposition|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|ATM-related cancer predisposition|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs876660134 | rs876660134 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|ATM-related cancer predisposition|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|ATM-related cancer predisposition|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2136061889 | rs2136061889 | 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 | |
rs2136061889 | rs2136061889 | 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 | |
rs1555111855 | 11:108312471:T:TA | 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 | |
rs1555111855 | 11:108312471:TA:T | 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 | |
rs1555111855 | 11:108312471:T:TA | 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 | |
rs1555111855 | 11:108312471:TA:T | 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 | |
rs1565493693 | rs1565493693 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1565493693 | rs1565493693 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1555111868 | rs1555111868 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATM | not provided | |
rs1555111868 | rs1555111868 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATM | not provided | |
null | ga4gh:VA.H_MJsme1dRa0gOkKspKAb0EtjCvlFosM | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.H_MJsme1dRa0gOkKspKAb0EtjCvlFosM | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2084252910 | rs2084252910 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATM | not provided | |
rs2084252910 | rs2084252910 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATM | not provided | |
rs1591758884 | rs1591758884 | 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 | |
rs1591758884 | rs1591758884 | 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 | |
rs2084254630 | rs2084254630 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs2084254630 | rs2084254630 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs1591758899 | rs1591758899 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1591758899 | rs1591758899 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108312491:GT:G | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108312491:GT:G | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1555111910 | rs1555111910 | 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 | |
rs1555111910 | rs1555111910 | 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 | |
rs201136510 | rs201136510 | 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 | |
rs201136510 | rs201136510 | 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 | |
rs786202016 | ga4gh:VA.1z6OowNnkPnWU-L70oT7k8EoRP5iFq8g | 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 | |
rs786202016 | ga4gh:VA.1z6OowNnkPnWU-L70oT7k8EoRP5iFq8g | 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 | |
rs786202016 | ga4gh:VA.UK3OO9z4L_OGVNNVLD2PwNPrELCZmbyl | 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 | |
rs786202016 | ga4gh:VA.UK3OO9z4L_OGVNNVLD2PwNPrELCZmbyl | 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 | |
rs786202016 | ga4gh:VA.IYK-NXqOyccDyTJDybk1b3kTxaKO-3m5 | 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 | |
rs786202016 | ga4gh:VA.IYK-NXqOyccDyTJDybk1b3kTxaKO-3m5 | 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 | 11:108315819:T:TCAGGATCTTCTCTTAGAAATCTA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108315819:T:TCAGGATCTTCTCTTAGAAATCTA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1555113505 | 11:108315821:A:AG | 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 | |
rs1555113505 | 11:108315821:AG:A | 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 | |
rs1555113505 | 11:108315821:A:AG | 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 | |
rs1555113505 | 11:108315821:AG:A | 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 | |
rs2136117225 | ga4gh:VA.rIpI_GW4KRDukwHlbTnjajkv7GQLsX_b | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2136117225 | ga4gh:VA.rIpI_GW4KRDukwHlbTnjajkv7GQLsX_b | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2136117225 | ga4gh:VA.2te5ecipiMwHzmg5qiiD4B2xsJCmVT2j | ClinVar: likely_pathogenic (2★) — ATM-related cancer predisposition|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related cancer predisposition|Ataxia-telangiectasia syndrome | |
rs2136117225 | ga4gh:VA.2te5ecipiMwHzmg5qiiD4B2xsJCmVT2j | ClinVar: likely_pathogenic (2★) — ATM-related cancer predisposition|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related cancer predisposition|Ataxia-telangiectasia syndrome | |
rs1365726807 | rs1365726807 | ClinVar: likely_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 | |
rs1365726807 | rs1365726807 | ClinVar: likely_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 | 11:108315826:CT:C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108315826:CT:C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1555113523 | rs1555113523 | ClinVar: 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 | |
rs1555113523 | rs1555113523 | ClinVar: 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 | |
rs1438576066 | rs1438576066 | ClinVar: pathogenic (2★) — Familial cancer of breast|not provided|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|not provided|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs1438576066 | rs1438576066 | ClinVar: pathogenic (2★) — Familial cancer of breast|not provided|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|not provided|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome |
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