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 |
|---|---|---|---|---|---|---|---|
rs2544252448 | rs2544252448 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
rs2544252448 | rs2544252448 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
null | 17:65558324:CAGGAA:C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
null | 17:65558324:CAGGAA:C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
rs2544252708 | rs2544252708 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2544252708 | rs2544252708 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2544252847 | rs2544252847 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome | |
rs2544252847 | rs2544252847 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome | |
null | 17:65558342:G:GT | ClinVar: pathogenic (2★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
null | 17:65558342:G:GT | ClinVar: pathogenic (2★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
null | ga4gh:VA.mVJbPSanwZn21XFXJsNYDdUOHlhlxchg | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.mVJbPSanwZn21XFXJsNYDdUOHlhlxchg | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
rs2544253193 | rs2544253193 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
rs2544253193 | rs2544253193 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
null | 17:65558374:G:GT | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
null | 17:65558374:G:GT | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs1567769335 | rs1567769335 | ClinVar: pathogenic (2★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs1567769335 | rs1567769335 | ClinVar: pathogenic (2★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2144589420 | rs2144589420 | ClinVar: pathogenic (2★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2144589420 | rs2144589420 | ClinVar: pathogenic (2★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2544253595 | rs2544253595 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2544253595 | rs2544253595 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2144589643 | rs2144589643 | ClinVar: likely_pathogenic (1★) — AXIN2-related attenuated familial adenomatous polyposis | genotype: heterozygous (one copy) | null | cancer | AXIN2 | AXIN2-related attenuated familial adenomatous polyposis | |
rs2144589643 | rs2144589643 | ClinVar: likely_pathogenic (1★) — AXIN2-related attenuated familial adenomatous polyposis | genotype: homozygous (two copies) | null | cancer | AXIN2 | AXIN2-related attenuated familial adenomatous polyposis | |
null | ga4gh:VA.SdW8RIex9_u3gzqFd3W8tzmosOsPqFeZ | ClinVar: likely_pathogenic (1★) — AXIN2-related disorder | genotype: heterozygous (one copy) | null | cancer | AXIN2 | AXIN2-related disorder | |
null | ga4gh:VA.SdW8RIex9_u3gzqFd3W8tzmosOsPqFeZ | ClinVar: likely_pathogenic (1★) — AXIN2-related disorder | genotype: homozygous (two copies) | null | cancer | AXIN2 | AXIN2-related disorder | |
rs2144589822 | rs2144589822 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2144589822 | rs2144589822 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs1555583659 | rs1555583659 | ClinVar: pathogenic (2★) — Oligodontia-cancer predisposition syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome|Hereditary cancer-predisposing syndrome | |
rs1555583659 | rs1555583659 | ClinVar: pathogenic (2★) — Oligodontia-cancer predisposition syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome|Hereditary cancer-predisposing syndrome | |
rs2544254066 | rs2544254066 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
rs2544254066 | rs2544254066 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
rs2544254111 | rs2544254111 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2544254111 | rs2544254111 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
null | ga4gh:VA.Mt6rbBbcvfpmcsf7SOq3yFd6mxaihz5H | ClinVar: pathogenic (1★) — Colorectal cancer | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Colorectal cancer | |
null | ga4gh:VA.Mt6rbBbcvfpmcsf7SOq3yFd6mxaihz5H | ClinVar: pathogenic (1★) — Colorectal cancer | genotype: homozygous (two copies) | null | cancer | AXIN2 | Colorectal cancer | |
rs2544254203 | rs2544254203 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2544254203 | rs2544254203 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2044308192 | rs2044308192 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2044308192 | rs2044308192 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2544254746 | rs2544254746 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2544254746 | rs2544254746 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2544254960 | rs2544254960 | ClinVar: pathogenic (2★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2544254960 | rs2544254960 | ClinVar: pathogenic (2★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2544255457 | rs2544255457 | ClinVar: pathogenic (2★) — Colorectal cancer|Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Colorectal cancer|Oligodontia-cancer predisposition syndrome | |
rs2544255457 | rs2544255457 | ClinVar: pathogenic (2★) — Colorectal cancer|Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Colorectal cancer|Oligodontia-cancer predisposition syndrome | |
rs746837986 | rs746837986 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Colorectal cancer|Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome|Colorectal cancer|Oligodontia-cancer predisposition syndrome | |
rs746837986 | rs746837986 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Colorectal cancer|Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome|Colorectal cancer|Oligodontia-cancer predisposition syndrome | |
rs2544256340 | rs2544256340 | ClinVar: pathogenic (2★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2544256340 | rs2544256340 | ClinVar: pathogenic (2★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2144592396 | rs2144592396 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2144592396 | rs2144592396 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
null | 3:52401643:GC:G | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52401643:GC:G | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1704980243 | rs1704980243 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1704980243 | rs1704980243 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs587776878 | ga4gh:VA.l-1sbF3Ryu1Vexvce6K1APuLmqzZFlVc | ClinVar: likely_pathogenic (1★) — 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 | |
rs587776878 | ga4gh:VA.l-1sbF3Ryu1Vexvce6K1APuLmqzZFlVc | ClinVar: likely_pathogenic (1★) — 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 | |
rs587776878 | ga4gh:VA.WQqXtk-HjqRJhh8d1thhU_vlL0xlVRHW | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|not provided | |
rs587776878 | ga4gh:VA.WQqXtk-HjqRJhh8d1thhU_vlL0xlVRHW | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|not provided | |
rs1578218644 | ga4gh:VA.fLORDHf4jDcpKYjah4uXNDfLSX-T2ukA | 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 | |
rs1578218644 | ga4gh:VA.fLORDHf4jDcpKYjah4uXNDfLSX-T2ukA | 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 | |
rs1578218644 | ga4gh:VA.znuJyLrP512DVtIIluga2Y1k1sKZwspQ | 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 | |
rs1578218644 | ga4gh:VA.znuJyLrP512DVtIIluga2Y1k1sKZwspQ | 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 | |
rs387906848 | rs387906848 | 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 | |
rs387906848 | rs387906848 | 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 | 3:52402617:TG:T | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52402617:TG:T | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471320326 | rs2471320326 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471320326 | rs2471320326 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226204 | rs2153226204 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226204 | rs2153226204 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.f7LlZGQYxGxhTqYCqUT_zYkEVisBF_rt | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.f7LlZGQYxGxhTqYCqUT_zYkEVisBF_rt | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471320496 | rs2471320496 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471320496 | rs2471320496 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578218746 | rs1578218746 | ClinVar: likely_pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578218746 | rs1578218746 | ClinVar: likely_pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578218761 | rs1578218761 | 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 | |
rs1578218761 | rs1578218761 | 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 | |
rs1705001036 | rs1705001036 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705001036 | rs1705001036 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553644634 | rs1553644634 | 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 | |
rs1553644634 | rs1553644634 | 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 | |
null | ga4gh:VA.6gCBUsTKA9h1GOqkxgiHb_mBIOzZ4BYD | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.6gCBUsTKA9h1GOqkxgiHb_mBIOzZ4BYD | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226226 | rs2153226226 | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226226 | rs2153226226 | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.fBCXNBpWbykZgIzp_noSYNO1yGwM9TeY | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.fBCXNBpWbykZgIzp_noSYNO1yGwM9TeY | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553644659 | rs1553644659 | 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 | |
rs1553644659 | rs1553644659 | 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 | |
rs2471321922 | rs2471321922 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471321922 | rs2471321922 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52402794:CTT:C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52402794:CTT:C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52402804:TC:T | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52402804:TC:T | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52402813:AG:A | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52402813:AG:A | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome |
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