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 |
|---|---|---|---|---|---|---|---|
rs2471355366 | rs2471355366 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471355366 | rs2471355366 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1578227605 | rs1578227605 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1578227605 | rs1578227605 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471355388 | rs2471355388 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471355388 | rs2471355388 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153228161 | ga4gh:VA.UC1LBGDP-VBN445EFkHOmwPHrcQS8ooi | ClinVar: likely_pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153228161 | ga4gh:VA.UC1LBGDP-VBN445EFkHOmwPHrcQS8ooi | ClinVar: likely_pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153228161 | ga4gh:VA.Zd_InBMN808GgGKAcJFHQFEwqME-6lPl | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2153228161 | ga4gh:VA.Zd_InBMN808GgGKAcJFHQFEwqME-6lPl | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1559591511 | rs1559591511 | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1559591511 | rs1559591511 | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471356841 | rs2471356841 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471356841 | rs2471356841 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.GGXkUC6eBe5vHM6VTt46ICi3a2M1F69C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.GGXkUC6eBe5vHM6VTt46ICi3a2M1F69C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2153228278 | rs2153228278 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153228278 | rs2153228278 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705235390 | rs1705235390 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | |
rs1705235390 | rs1705235390 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | |
null | 3:52408509:CATCA:C | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52408509:CATCA:C | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471357592 | rs2471357592 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471357592 | rs2471357592 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52408523:G:GT | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52408523:G:GT | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2153228310 | rs2153228310 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153228310 | rs2153228310 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471357710 | rs2471357710 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471357710 | rs2471357710 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705237553 | rs1705237553 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705237553 | rs1705237553 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52408539:TAG:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52408539:TAG:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52408543:G:GA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52408543:G:GA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1060503744 | rs1060503744 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1060503744 | rs1060503744 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471358086 | rs2471358086 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471358086 | rs2471358086 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1253151209 | rs1253151209 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|not provided|BAP1-related tumor predisposition syndrome | |
rs1253151209 | rs1253151209 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|not provided|BAP1-related tumor predisposition syndrome | |
null | 3:52408551:GC:G | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52408551:GC:G | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1298276806 | rs1298276806 | ClinVar: pathogenic (1★) — Neurodevelopmental disorder|not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | Neurodevelopmental disorder|not provided | |
rs1298276806 | rs1298276806 | ClinVar: pathogenic (1★) — Neurodevelopmental disorder|not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | Neurodevelopmental disorder|not provided | |
rs1705238769 | rs1705238769 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705238769 | rs1705238769 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471358250 | rs2471358250 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471358250 | rs2471358250 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471358329 | rs2471358329 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471358329 | rs2471358329 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153228333 | rs2153228333 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153228333 | rs2153228333 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1559591728 | rs1559591728 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1559591728 | rs1559591728 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2153228340 | rs2153228340 | ClinVar: likely_pathogenic (1★) — Neurodevelopmental disorder|not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | Neurodevelopmental disorder|not provided | |
rs2153228340 | rs2153228340 | ClinVar: likely_pathogenic (1★) — Neurodevelopmental disorder|not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | Neurodevelopmental disorder|not provided | |
rs1553646045 | ga4gh:VA.DdmCLKgBBUhlKU9x47bR9lXIzhyNdORP | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553646045 | ga4gh:VA.DdmCLKgBBUhlKU9x47bR9lXIzhyNdORP | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553646045 | ga4gh:VA.HKChYAhtzJv6FyPFvx-LOOGwoV93ZiaK | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | |
rs1553646045 | ga4gh:VA.HKChYAhtzJv6FyPFvx-LOOGwoV93ZiaK | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | |
rs2153228349 | rs2153228349 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided | |
rs2153228349 | rs2153228349 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided | |
rs1265456777 | rs1265456777 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1265456777 | rs1265456777 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471358764 | rs2471358764 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided | |
rs2471358764 | rs2471358764 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided | |
null | 3:52408599:ATACAGGGCTGGGGGAAG:A | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | |
null | 3:52408599:ATACAGGGCTGGGGGAAG:A | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | |
rs1553646061 | rs1553646061 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1553646061 | rs1553646061 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471358847 | rs2471358847 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471358847 | rs2471358847 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.lK5_sapvRr-fy53MV5AP1oK8ZQsgE7Di | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.lK5_sapvRr-fy53MV5AP1oK8ZQsgE7Di | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1060503732 | rs1060503732 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1060503732 | rs1060503732 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.cPSMJ5gV91vN3k-xMwaQv6yo4bG9ETzf | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.cPSMJ5gV91vN3k-xMwaQv6yo4bG9ETzf | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1578230320 | ga4gh:VA.kGurd70pWtObLyNf7Gyy9kz0r5CVQAo2 | ClinVar: likely_pathogenic (2★) — not provided|BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided|BAP1-related tumor predisposition syndrome | |
rs1578230320 | ga4gh:VA.kGurd70pWtObLyNf7Gyy9kz0r5CVQAo2 | ClinVar: likely_pathogenic (2★) — not provided|BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided|BAP1-related tumor predisposition syndrome | |
rs1578230320 | ga4gh:VA.6PGuui3xue46i5mGCFnnEWE6Wb8N97IN | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578230320 | ga4gh:VA.6PGuui3xue46i5mGCFnnEWE6Wb8N97IN | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471363943 | rs2471363943 | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471363943 | rs2471363943 | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578230334 | ga4gh:VA.PqAelFLI7D9NRqtNw0zs5K5khSAhHxSW | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | |
rs1578230334 | ga4gh:VA.PqAelFLI7D9NRqtNw0zs5K5khSAhHxSW | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | |
rs1578230334 | ga4gh:VA.Qj0OqYzTCPIMo5pIXYCPbvy9vks8MU7p | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | |
rs1578230334 | ga4gh:VA.Qj0OqYzTCPIMo5pIXYCPbvy9vks8MU7p | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | |
rs2153228507 | rs2153228507 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153228507 | rs2153228507 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471364013 | rs2471364013 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471364013 | rs2471364013 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553646284 | rs1553646284 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | |
rs1553646284 | rs1553646284 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | |
null | 3:52409561:AT:A | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52409561:AT:A | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2153228515 | rs2153228515 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153228515 | rs2153228515 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.