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 |
|---|---|---|---|---|---|---|---|
rs1705111763 | 3:52405232:G:GT | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705111763 | 3:52405232:GT:G | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705111763 | 3:52405232:G:GT | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705111763 | 3:52405232:GT:G | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471337014 | rs2471337014 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471337014 | rs2471337014 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52405253:AT:A | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52405253:AT:A | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1559588632 | rs1559588632 | ClinVar: pathogenic (1★) — Uveal melanoma | genotype: heterozygous (one copy) | null | cancer | BAP1 | Uveal melanoma | |
rs1559588632 | rs1559588632 | ClinVar: pathogenic (1★) — Uveal melanoma | genotype: homozygous (two copies) | null | cancer | BAP1 | Uveal melanoma | |
rs1578223503 | rs1578223503 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578223503 | rs1578223503 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553645329 | rs1553645329 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1553645329 | rs1553645329 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471337286 | rs2471337286 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471337286 | rs2471337286 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227082 | rs2153227082 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227082 | rs2153227082 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52405290:AC:A | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52405290:AC:A | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52405291:CCATCTGAGACA:C | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52405291:CCATCTGAGACA:C | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227087 | rs2153227087 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided | |
rs2153227087 | rs2153227087 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided | |
rs9848343 | rs9848343 | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs9848343 | rs9848343 | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs112194987 | rs112194987 | 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 | |
rs112194987 | rs112194987 | 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.W6Uc4Drlw_TKYAKx9sSWtBCZk5kHP7J2 | 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 | ga4gh:VA.W6Uc4Drlw_TKYAKx9sSWtBCZk5kHP7J2 | 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 | |
rs1578224271 | rs1578224271 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578224271 | rs1578224271 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578224341 | rs1578224341 | 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 | |
rs1578224341 | rs1578224341 | 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 | |
rs2471340602 | rs2471340602 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471340602 | rs2471340602 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553645486 | rs1553645486 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome|not provided|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome|not provided|Hereditary cancer-predisposing syndrome | |
rs1553645486 | rs1553645486 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome|not provided|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome|not provided|Hereditary cancer-predisposing syndrome | |
rs1705139320 | rs1705139320 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705139320 | rs1705139320 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.v00dQ5YAqkuoQe1XOgcLEjpFkJlfarGT | ClinVar: likely_pathogenic (1★) — Kury-Isidor syndrome|BAP1-related tumor predisposition syndrome|Melanoma, uveal, susceptibility to, 2 | genotype: heterozygous (one copy) | null | cancer | BAP1 | Kury-Isidor syndrome|BAP1-related tumor predisposition syndrome|Melanoma, uveal, susceptibility to, 2 | |
null | ga4gh:VA.v00dQ5YAqkuoQe1XOgcLEjpFkJlfarGT | ClinVar: likely_pathogenic (1★) — Kury-Isidor syndrome|BAP1-related tumor predisposition syndrome|Melanoma, uveal, susceptibility to, 2 | genotype: homozygous (two copies) | null | cancer | BAP1 | Kury-Isidor syndrome|BAP1-related tumor predisposition syndrome|Melanoma, uveal, susceptibility to, 2 | |
rs2471340903 | rs2471340903 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471340903 | rs2471340903 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471340929 | rs2471340929 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471340929 | rs2471340929 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52405855:G:GC | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52405855:G:GC | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553645492 | rs1553645492 | 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 | |
rs1553645492 | rs1553645492 | 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 | ga4gh:VA.qQi9Ggz4LpC8rGrmj2e7o9XRMj8mqCjw | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.qQi9Ggz4LpC8rGrmj2e7o9XRMj8mqCjw | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52405861:ACT:A | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52405861:ACT:A | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1553645497 | rs1553645497 | 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 | |
rs1553645497 | rs1553645497 | 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 | |
rs1327490224 | rs1327490224 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome|not provided | |
rs1327490224 | rs1327490224 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome|not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome|not provided | |
rs1559589252 | rs1559589252 | 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 | |
rs1559589252 | rs1559589252 | 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 | |
rs2471341236 | rs2471341236 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471341236 | rs2471341236 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.hTuWPO1TAGLu994FgskZiuB60h-CU7-x | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.hTuWPO1TAGLu994FgskZiuB60h-CU7-x | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1553645509 | rs1553645509 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1553645509 | rs1553645509 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2153227280 | rs2153227280 | 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 | |
rs2153227280 | rs2153227280 | 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 | |
rs387906849 | rs387906849 | 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 | |
rs387906849 | rs387906849 | 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 | |
rs2471341415 | rs2471341415 | 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 | |
rs2471341415 | rs2471341415 | 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 | |
rs1559589344 | rs1559589344 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1559589344 | rs1559589344 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471343029 | rs2471343029 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471343029 | rs2471343029 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705153755 | rs1705153755 | ClinVar: likely_pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705153755 | rs1705153755 | ClinVar: likely_pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.tydvE-oVjXVPZ3FFfYXy8cCiJSPNw_zN | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.tydvE-oVjXVPZ3FFfYXy8cCiJSPNw_zN | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs864622592 | rs864622592 | 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 | |
rs864622592 | rs864622592 | 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 | 3:52406264:C:CCT | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52406264:C:CCT | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1553645586 | rs1553645586 | 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 | |
rs1553645586 | rs1553645586 | 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 | |
rs2153227431 | rs2153227431 | 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 | |
rs2153227431 | rs2153227431 | 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 | |
rs1553645591 | rs1553645591 | 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 | |
rs1553645591 | rs1553645591 | 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 | |
rs2471343300 | rs2471343300 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|not provided | |
rs2471343300 | rs2471343300 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|not provided | |
rs776240891 | rs776240891 | 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 | |
rs776240891 | rs776240891 | 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 | |
rs2471343622 | rs2471343622 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471343622 | rs2471343622 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.9d737YXxfvgeE_snOd10_CyQ9RlBoJ3O | 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 | |
null | ga4gh:VA.9d737YXxfvgeE_snOd10_CyQ9RlBoJ3O | 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 | |
rs2153227460 | rs2153227460 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227460 | rs2153227460 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome |
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