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 |
|---|---|---|---|---|---|---|---|
rs2471330374 | rs2471330374 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471330374 | rs2471330374 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52403863:C:CCCCT | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52403863:C:CCCCT | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs780414230 | rs780414230 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs780414230 | rs780414230 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52403869:GCTTCC:G | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52403869:GCTTCC:G | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2153226766 | rs2153226766 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226766 | rs2153226766 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471330481 | rs2471330481 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471330481 | rs2471330481 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471330617 | rs2471330617 | 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 | |
rs2471330617 | rs2471330617 | 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 | |
rs1064795786 | rs1064795786 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided | |
rs1064795786 | rs1064795786 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided | |
rs1578221396 | ga4gh:VA.eSv7SCtrLyn8W7YC0e7OdGrFj79BhXWM | ClinVar: likely_pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578221396 | ga4gh:VA.eSv7SCtrLyn8W7YC0e7OdGrFj79BhXWM | ClinVar: likely_pathogenic (2★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578221396 | ga4gh:VA.qPaIUb8ZgaQwHCT6urvHNWycMwXOJkhg | 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 | |
rs1578221396 | ga4gh:VA.qPaIUb8ZgaQwHCT6urvHNWycMwXOJkhg | 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 | |
rs2153226773 | rs2153226773 | 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 | |
rs2153226773 | rs2153226773 | 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 | |
rs2153226834 | rs2153226834 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome|Familial melanoma|Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome|Familial melanoma|Hereditary cancer-predisposing syndrome|not provided | |
rs2153226834 | rs2153226834 | ClinVar: pathogenic (2★) — BAP1-related tumor predisposition syndrome|Familial melanoma|Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome|Familial melanoma|Hereditary cancer-predisposing syndrome|not provided | |
rs2471332601 | rs2471332601 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471332601 | rs2471332601 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553645117 | rs1553645117 | 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 | |
rs1553645117 | rs1553645117 | 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 | |
rs1705082679 | rs1705082679 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1705082679 | rs1705082679 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2153226844 | rs2153226844 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided | |
rs2153226844 | rs2153226844 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided | |
rs2153226848 | rs2153226848 | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226848 | rs2153226848 | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553645126 | rs1553645126 | 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 | |
rs1553645126 | rs1553645126 | 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 | |
rs886058705 | rs886058705 | 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 | |
rs886058705 | rs886058705 | 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 | |
rs200156887 | rs200156887 | 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 | |
rs200156887 | rs200156887 | 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 | |
rs1553645136 | rs1553645136 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553645136 | rs1553645136 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52404518:TGA:T | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52404518:TGA:T | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226861 | rs2153226861 | 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 | |
rs2153226861 | rs2153226861 | 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 | |
rs1364087255 | rs1364087255 | 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 | |
rs1364087255 | rs1364087255 | 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 | 3:52404524:CT:C | ClinVar: pathogenic (2★) — not provided|BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided|BAP1-related tumor predisposition syndrome | |
null | 3:52404524:CT:C | ClinVar: pathogenic (2★) — not provided|BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided|BAP1-related tumor predisposition syndrome | |
rs878874989 | rs878874989 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs878874989 | rs878874989 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1553645146 | rs1553645146 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome|Kury-Isidor syndrome|Melanoma, uveal, susceptibility to, 2 | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome|Kury-Isidor syndrome|Melanoma, uveal, susceptibility to, 2 | |
rs1553645146 | rs1553645146 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome|Kury-Isidor syndrome|Melanoma, uveal, susceptibility to, 2 | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome|Kury-Isidor syndrome|Melanoma, uveal, susceptibility to, 2 | |
rs1578222261 | rs1578222261 | 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 | |
rs1578222261 | rs1578222261 | 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 | 3:52404533:T:TGGGCGGACTGGAACTCGGCTGCGGC | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52404533:T:TGGGCGGACTGGAACTCGGCTGCGGC | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52404542:TG:T | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52404542:TG:T | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52404546:ACTCGGCTG:A | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52404546:ACTCGGCTG:A | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1553645164 | rs1553645164 | 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 | |
rs1553645164 | rs1553645164 | 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 | |
rs2153226878 | rs2153226878 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226878 | rs2153226878 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52404551:GCTGCGGCCCACACC:G | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52404551:GCTGCGGCCCACACC:G | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153226890 | rs2153226890 | ClinVar: likely_pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided|Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | |
rs2153226890 | rs2153226890 | ClinVar: likely_pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided|Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.B4wPLWnx155IeRRM6j41rUMPobeGvJgp | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.B4wPLWnx155IeRRM6j41rUMPobeGvJgp | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.lQXSQ2_vU5KAWLQo2z-p4A4acJQiCEif | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.lQXSQ2_vU5KAWLQo2z-p4A4acJQiCEif | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.--A6ct0vqB_jZ6NZ4aqVpyRe5c-SXOWD | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.--A6ct0vqB_jZ6NZ4aqVpyRe5c-SXOWD | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471335526 | rs2471335526 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471335526 | rs2471335526 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578223103 | rs1578223103 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578223103 | rs1578223103 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52405127:CA:C | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52405127:CA:C | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1391804672 | rs1391804672 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1391804672 | rs1391804672 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471335834 | rs2471335834 | 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 | |
rs2471335834 | rs2471335834 | 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 | |
rs869312757 | rs869312757 | 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 | |
rs869312757 | rs869312757 | 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 | 3:52405187:GA:G | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52405187:GA:G | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705109295 | rs1705109295 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705109295 | rs1705109295 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52405193:CA:C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52405193:CA:C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52405203:G:GC | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52405203:G:GC | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | 3:52405219:AC:A | 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 | |
null | 3:52405219:AC:A | 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 | |
rs1705111517 | rs1705111517 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705111517 | rs1705111517 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome |
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