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 | 3:52403490:T:TCACG | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52403490:T:TCACG | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471327413 | rs2471327413 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471327413 | rs2471327413 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471327444 | rs2471327444 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471327444 | rs2471327444 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.uBDaJ0093z6Va-WAjw6E12aSwLg_PBfV | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.uBDaJ0093z6Va-WAjw6E12aSwLg_PBfV | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471327880 | rs2471327880 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471327880 | rs2471327880 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1578220452 | rs1578220452 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1578220452 | rs1578220452 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2153226657 | rs2153226657 | ClinVar: pathogenic (2★) — not provided|BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided|BAP1-related tumor predisposition syndrome | |
rs2153226657 | rs2153226657 | ClinVar: pathogenic (2★) — not provided|BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided|BAP1-related tumor predisposition syndrome | |
rs2471327966 | rs2471327966 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471327966 | rs2471327966 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705042101 | rs1705042101 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705042101 | rs1705042101 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705043129 | rs1705043129 | 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 | |
rs1705043129 | rs1705043129 | 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 | 3:52403593:G:GC | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52403593:G:GC | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52403593:GC:G | 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 | |
null | 3:52403593:GC:G | 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 | |
rs2153226675 | rs2153226675 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226675 | rs2153226675 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705045724 | rs1705045724 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1705045724 | rs1705045724 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471328461 | rs2471328461 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471328461 | rs2471328461 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471328509 | rs2471328509 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471328509 | rs2471328509 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578220681 | rs1578220681 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1578220681 | rs1578220681 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1322319973 | rs1322319973 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided | |
rs1322319973 | rs1322319973 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided | |
rs2471328569 | rs2471328569 | 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 | |
rs2471328569 | rs2471328569 | 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 | 3:52403639:AG:A | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided | |
null | 3:52403639:AG:A | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided | |
rs2153226696 | rs2153226696 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226696 | rs2153226696 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471328745 | rs2471328745 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471328745 | rs2471328745 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2153226700 | rs2153226700 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226700 | rs2153226700 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471328765 | rs2471328765 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471328765 | rs2471328765 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1559586782 | rs1559586782 | 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 | |
rs1559586782 | rs1559586782 | 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 | |
rs2153226707 | rs2153226707 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226707 | rs2153226707 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52403680:T:TG | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided | |
null | 3:52403680:T:TG | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided | |
rs1553644922 | rs1553644922 | 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 | |
rs1553644922 | rs1553644922 | 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 | |
rs1705049633 | rs1705049633 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided | |
rs1705049633 | rs1705049633 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided | |
null | 3:52403692:AG:A | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52403692:AG:A | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1705050256 | rs1705050256 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705050256 | rs1705050256 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471329027 | rs2471329027 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471329027 | rs2471329027 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471329072 | rs2471329072 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471329072 | rs2471329072 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs869160449 | rs869160449 | 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 | |
rs869160449 | rs869160449 | 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 | |
rs1060503731 | rs1060503731 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1060503731 | rs1060503731 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52403732:AG:A | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52403732:AG:A | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226742 | rs2153226742 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226742 | rs2153226742 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471329526 | rs2471329526 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471329526 | rs2471329526 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1559586965 | rs1559586965 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1559586965 | rs1559586965 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52403765:TGA:T | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52403765:TGA:T | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553644949 | ga4gh:VA.7j5JhcHqWJwAkGxGPCNhUOKY1UXAyZoY | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553644949 | ga4gh:VA.7j5JhcHqWJwAkGxGPCNhUOKY1UXAyZoY | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553644949 | ga4gh:VA.jvUtHKohqOO4Obj49nFBbUsPDa2C9JVr | 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 | |
rs1553644949 | ga4gh:VA.jvUtHKohqOO4Obj49nFBbUsPDa2C9JVr | 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 | |
rs2471329614 | rs2471329614 | 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 | |
rs2471329614 | rs2471329614 | 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 | 3:52403772:T:TC | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52403772:T:TC | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52403778:TG:T | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52403778:TG:T | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1351986946 | rs1351986946 | 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 | |
rs1351986946 | rs1351986946 | 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 | |
rs1559587104 | rs1559587104 | 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 | |
rs1559587104 | rs1559587104 | 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 | |
rs1443225407 | rs1443225407 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1443225407 | rs1443225407 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226756 | rs2153226756 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided | |
rs2153226756 | rs2153226756 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided | |
null | ga4gh:VA.k5Lyb3vdjzUNj8mW9nLtdtPjO36whHDj | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.k5Lyb3vdjzUNj8mW9nLtdtPjO36whHDj | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome |
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