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 |
|---|---|---|---|---|---|---|---|
rs2547203226 | rs2547203226 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2547203226 | rs2547203226 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2547203424 | rs2547203424 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547203424 | rs2547203424 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547203609 | rs2547203609 | 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 | |
rs2547203609 | rs2547203609 | 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 | |
rs2547203724 | rs2547203724 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547203724 | rs2547203724 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2085567158 | rs2085567158 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2085567158 | rs2085567158 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136313589 | rs2136313589 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136313589 | rs2136313589 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1591129305 | rs1591129305 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1591129305 | rs1591129305 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547204242 | rs2547204242 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547204242 | rs2547204242 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | ga4gh:VA.rbl_57QL0DFBMLogCwFpgaKRX--0L9z7 | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | ga4gh:VA.rbl_57QL0DFBMLogCwFpgaKRX--0L9z7 | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1591129337 | rs1591129337 | 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 | |
rs1591129337 | rs1591129337 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
null | 11:108325452:A:AT | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108325452:A:AT | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547204620 | rs2547204620 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547204620 | rs2547204620 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2136314501 | rs2136314501 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136314501 | rs2136314501 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs876658394 | rs876658394 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs876658394 | rs876658394 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2136314573 | rs2136314573 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136314573 | rs2136314573 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1060501543 | rs1060501543 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | |
rs1060501543 | rs1060501543 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | |
rs1565518711 | rs1565518711 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs1565518711 | rs1565518711 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2547205149 | rs2547205149 | 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 | |
rs2547205149 | rs2547205149 | 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 | |
rs2136315218 | rs2136315218 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2136315218 | rs2136315218 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2085572299 | rs2085572299 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs2085572299 | rs2085572299 | 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 | 11:108325474:G:GT | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108325474:G:GT | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2085573796 | 11:108325478:T:TA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2085573796 | 11:108325478:TA:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2085573796 | 11:108325478:T:TA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2085573796 | 11:108325478:TA:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1555119232 | rs1555119232 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs1555119232 | rs1555119232 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2547205608 | rs2547205608 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATM | not provided | |
rs2547205608 | rs2547205608 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATM | not provided | |
rs2547205724 | rs2547205724 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547205724 | rs2547205724 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs1555119247 | rs1555119247 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1555119247 | rs1555119247 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108325485:AT:A | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108325485:AT:A | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs863224461 | rs863224461 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|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|Breast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs863224461 | rs863224461 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|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|Breast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2547205843 | rs2547205843 | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547205843 | rs2547205843 | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108325489:TCACCAAA:T | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108325489:TCACCAAA:T | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1064793042 | rs1064793042 | ClinVar: pathogenic (2★) — not provided|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Ataxia-telangiectasia syndrome | |
rs1064793042 | rs1064793042 | ClinVar: pathogenic (2★) — not provided|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Ataxia-telangiectasia syndrome | |
rs2547206071 | rs2547206071 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547206071 | rs2547206071 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs863224578 | rs863224578 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs863224578 | rs863224578 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs949695076 | rs949695076 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs949695076 | rs949695076 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108325502:TG:T | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108325502:TG:T | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136317336 | rs2136317336 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136317336 | rs2136317336 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1131691156 | rs1131691156 | ClinVar: pathogenic (2★) — Malignant tumor of breast|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Malignant tumor of breast|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1131691156 | rs1131691156 | ClinVar: pathogenic (2★) — Malignant tumor of breast|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Malignant tumor of breast|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
null | 11:108325511:C:CT | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108325511:C:CT | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108325515:A:AT | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108325515:A:AT | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547207216 | rs2547207216 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547207216 | rs2547207216 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108325530:TTCAAGAACAC:T | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108325530:TTCAAGAACAC:T | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs45481995 | rs45481995 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs45481995 | rs45481995 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1555119364 | rs1555119364 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs1555119364 | rs1555119364 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs2136318895 | rs2136318895 | ClinVar: likely_pathogenic (1★) — ATM-related disorder | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related disorder | |
rs2136318895 | rs2136318895 | ClinVar: likely_pathogenic (1★) — ATM-related disorder | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related disorder | |
rs2085584895 | rs2085584895 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2085584895 | rs2085584895 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs587780638 | rs587780638 | ClinVar: pathogenic (3★) — ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs587780638 | rs587780638 | ClinVar: pathogenic (3★) — ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2547207638 | rs2547207638 | 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 | |
rs2547207638 | rs2547207638 | 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 | |
rs2136319435 | ga4gh:VA.2bZf3mmfl9GV6tc6TVBvrzOeTDyYOYzW | ClinVar: likely_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 | |
rs2136319435 | ga4gh:VA.2bZf3mmfl9GV6tc6TVBvrzOeTDyYOYzW | ClinVar: likely_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 | |
rs2136319435 | ga4gh:VA.O8SbK3BfIyZpSX0k35o4zHxIoFtn2zxZ | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome | |
rs2136319435 | ga4gh:VA.O8SbK3BfIyZpSX0k35o4zHxIoFtn2zxZ | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome |
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