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 |
|---|---|---|---|---|---|---|---|
null | 11:108332807:A:AG | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108332807:A:AG | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs730881293 | rs730881293 | 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 | |
rs730881293 | rs730881293 | 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 | |
null | 11:108332813:C:CGA | ClinVar: pathogenic (3★) — ATM-related cancer predisposition | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related cancer predisposition | |
null | 11:108332813:C:CGA | ClinVar: pathogenic (3★) — ATM-related cancer predisposition | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related cancer predisposition | |
rs2547299084 | rs2547299084 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547299084 | rs2547299084 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108332822:GTCAGAAGTG:AGGTCTCCTTTGAGTGCCTCA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108332822:GTCAGAAGTG:AGGTCTCCTTTGAGTGCCTCA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1555125349 | rs1555125349 | 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 | |
rs1555125349 | rs1555125349 | 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 | 11:108332835:A:AG | 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 | 11:108332835:A:AG | 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 | |
rs766351395 | rs766351395 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome|Tip-toe gait | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome|Tip-toe gait | |
rs766351395 | rs766351395 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome|Tip-toe gait | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome|Tip-toe gait | |
rs2136568493 | rs2136568493 | ClinVar: likely_pathogenic (2★) — Familial cancer of breast|not provided | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|not provided | |
rs2136568493 | rs2136568493 | ClinVar: likely_pathogenic (2★) — Familial cancer of breast|not provided | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|not provided | |
null | 11:108332845:TGATGCTTA:C | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108332845:TGATGCTTA:C | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs1196903858 | rs1196903858 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1196903858 | rs1196903858 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs267606668 | rs267606668 | 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 | |
rs267606668 | rs267606668 | 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 | |
rs267606669 | rs267606669 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs267606669 | rs267606669 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1450394308 | rs1450394308 | ClinVar: pathogenic (2★) — Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided|ATM-related cancer predisposition|Hereditary breast ovarian cancer syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided|ATM-related cancer predisposition|Hereditary breast ovarian cancer syndrome | |
rs1450394308 | rs1450394308 | ClinVar: pathogenic (2★) — Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided|ATM-related cancer predisposition|Hereditary breast ovarian cancer syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Gastric cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided|ATM-related cancer predisposition|Hereditary breast ovarian cancer syndrome | |
null | 11:108332851:TTATA:T | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108332851:TTATA:T | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2086422796 | rs2086422796 | ClinVar: likely_pathogenic (3★) — Familial cancer of breast|Ataxia-telangiectasia syndrome|ATM-related cancer predisposition | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome|ATM-related cancer predisposition | |
rs2086422796 | rs2086422796 | ClinVar: likely_pathogenic (3★) — Familial cancer of breast|Ataxia-telangiectasia syndrome|ATM-related cancer predisposition | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome|ATM-related cancer predisposition | |
rs1057516599 | rs1057516599 | 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 | |
rs1057516599 | rs1057516599 | 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 | |
null | ga4gh:VA.HwTYLq9mrLMM9cSzsMoOov6InlNZbb9C | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | ga4gh:VA.HwTYLq9mrLMM9cSzsMoOov6InlNZbb9C | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108332855:AT:A | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108332855:AT:A | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1591178998 | ga4gh:VA.3oYmjicYYIEDZsEH607eUx6_vpN-belg | ClinVar: pathogenic (2★) — not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs1591178998 | ga4gh:VA.3oYmjicYYIEDZsEH607eUx6_vpN-belg | ClinVar: pathogenic (2★) — not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs1591178998 | ga4gh:VA.ZR_zvZatTV5F1f4AohtvcXPYNmZhXJx6 | ClinVar: pathogenic (2★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs1591178998 | ga4gh:VA.ZR_zvZatTV5F1f4AohtvcXPYNmZhXJx6 | ClinVar: pathogenic (2★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2547300787 | rs2547300787 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547300787 | rs2547300787 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108332875:TGCCACTC:A | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATM | not provided | |
null | 11:108332875:TGCCACTC:A | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATM | not provided | |
null | 11:108332885:TG:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108332885:TG:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs377349459 | rs377349459 | ClinVar: pathogenic (2★) — ATM-related disorder|ATM-related cancer predisposition|Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|not provided|See cases | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related disorder|ATM-related cancer predisposition|Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|not provided|See cases | |
rs377349459 | rs377349459 | ClinVar: pathogenic (2★) — ATM-related disorder|ATM-related cancer predisposition|Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|not provided|See cases | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related disorder|ATM-related cancer predisposition|Familial cancer of breast|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|not provided|See cases | |
rs758843096 | rs758843096 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs758843096 | rs758843096 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs1591179199 | rs1591179199 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1591179199 | rs1591179199 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.5Snmg99ymA6EeVXSX_yPcOWI7WOfygsu | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.5Snmg99ymA6EeVXSX_yPcOWI7WOfygsu | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2136572656 | rs2136572656 | 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 | |
rs2136572656 | rs2136572656 | 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 | 11:108332889:A:ACT | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108332889:A:ACT | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs769523686 | rs769523686 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs769523686 | rs769523686 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2136573333 | rs2136573333 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2136573333 | rs2136573333 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108332898:G:GA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108332898:G:GA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs863224440 | rs863224440 | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome | |
rs863224440 | rs863224440 | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome | |
rs1555125532 | ga4gh:VA.KXAsfy-o5knhpWK3_O7Y7VuvnJtfjJiv | ClinVar: likely_pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs1555125532 | ga4gh:VA.KXAsfy-o5knhpWK3_O7Y7VuvnJtfjJiv | ClinVar: likely_pathogenic (2★) — Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome | |
rs1555125532 | ga4gh:VA.t-Fchs-7RmLjGe6abvIOVcnSxu3uZSO1 | 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 | |
rs1555125532 | ga4gh:VA.t-Fchs-7RmLjGe6abvIOVcnSxu3uZSO1 | 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 | |
rs2086432758 | ga4gh:VA.y6MMGSJ6lkn9ySfoj8C9FMShfvXZ9Dya | ClinVar: pathogenic (2★) — not provided|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Ataxia-telangiectasia syndrome | |
rs2086432758 | ga4gh:VA.y6MMGSJ6lkn9ySfoj8C9FMShfvXZ9Dya | ClinVar: pathogenic (2★) — not provided|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Ataxia-telangiectasia syndrome | |
rs2086432758 | ga4gh:VA.3rCV-P2_vCBkyCUI8NhEo80NGz4z1XTN | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2086432758 | ga4gh:VA.3rCV-P2_vCBkyCUI8NhEo80NGz4z1XTN | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1064795550 | rs1064795550 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome | |
rs1064795550 | rs1064795550 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome | |
rs2136611559 | rs2136611559 | ClinVar: likely_pathogenic (1★) — Abnormal central motor function|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Abnormal central motor function|Ataxia-telangiectasia syndrome | |
rs2136611559 | rs2136611559 | ClinVar: likely_pathogenic (1★) — Abnormal central motor function|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Abnormal central motor function|Ataxia-telangiectasia syndrome | |
rs2547313126 | rs2547313126 | 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 | |
rs2547313126 | rs2547313126 | 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 | |
rs587781994 | rs587781994 | 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 | |
rs587781994 | rs587781994 | 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 | |
rs2136612771 | rs2136612771 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136612771 | rs2136612771 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547313740 | rs2547313740 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547313740 | rs2547313740 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2136613666 | rs2136613666 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2136613666 | rs2136613666 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1289658632 | rs1289658632 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1289658632 | rs1289658632 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547314205 | rs2547314205 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs2547314205 | rs2547314205 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
null | 11:108333924:CTTAAGAA:C | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108333924:CTTAAGAA:C | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs121434218 | rs121434218 | ClinVar: likely_pathogenic (1★) — not provided|Ataxia-telangiectasia without immunodeficiency | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Ataxia-telangiectasia without immunodeficiency | |
rs121434218 | rs121434218 | ClinVar: likely_pathogenic (1★) — not provided|Ataxia-telangiectasia without immunodeficiency | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Ataxia-telangiectasia without immunodeficiency | |
null | 11:108333926:TA:CT | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108333926:TA:CT | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast |
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