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 | ga4gh:VA.j2m64qDaimfDd3cbkhv-QtY1D0aKuTVk | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.j2m64qDaimfDd3cbkhv-QtY1D0aKuTVk | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1578225176 | rs1578225176 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578225176 | rs1578225176 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.JKNdVlQxDEjSaMMHK1x-EPcjUHjrJWqw | ClinVar: likely_pathogenic (1★) — Kury-Isidor syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Kury-Isidor syndrome | |
null | ga4gh:VA.JKNdVlQxDEjSaMMHK1x-EPcjUHjrJWqw | ClinVar: likely_pathogenic (1★) — Kury-Isidor syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Kury-Isidor syndrome | |
rs2153227484 | rs2153227484 | ClinVar: likely_pathogenic (2★) — Kury-Isidor syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Kury-Isidor syndrome | |
rs2153227484 | rs2153227484 | ClinVar: likely_pathogenic (2★) — Kury-Isidor syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Kury-Isidor syndrome | |
null | ga4gh:VA.RBQQ3ckvtRrC_RyCwRI_PVGJNXxPFdrz | ClinVar: likely_pathogenic (1★) — Kury-Isidor syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Kury-Isidor syndrome | |
null | ga4gh:VA.RBQQ3ckvtRrC_RyCwRI_PVGJNXxPFdrz | ClinVar: likely_pathogenic (1★) — Kury-Isidor syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Kury-Isidor syndrome | |
rs2153227498 | rs2153227498 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227498 | rs2153227498 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1559589809 | rs1559589809 | 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 | |
rs1559589809 | rs1559589809 | 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 | |
rs878854741 | rs878854741 | 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 | |
rs878854741 | rs878854741 | 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 | |
rs1578225739 | rs1578225739 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578225739 | rs1578225739 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.yOt9_ZxAWz-1MXmnMWVCHwqstRDIylcN | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.yOt9_ZxAWz-1MXmnMWVCHwqstRDIylcN | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1064795667 | rs1064795667 | ClinVar: likely_pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided|Hereditary cancer-predisposing syndrome | |
rs1064795667 | rs1064795667 | ClinVar: likely_pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided|Hereditary cancer-predisposing syndrome | |
rs2153227622 | ga4gh:VA.nR2KKh3I78WWLusOYS6CvmdZxQrcp8-v | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2153227622 | ga4gh:VA.nR2KKh3I78WWLusOYS6CvmdZxQrcp8-v | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2153227622 | ga4gh:VA.gZ_T5NqDy82LgBjLKfcOQIcJ_dENAZww | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227622 | ga4gh:VA.gZ_T5NqDy82LgBjLKfcOQIcJ_dENAZww | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.HM42DLzOeZUHSGZUPT_hmWO8xbC9hyVY | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.HM42DLzOeZUHSGZUPT_hmWO8xbC9hyVY | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52406829:C:CGTAA | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52406829:C:CGTAA | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1060503727 | rs1060503727 | 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 | |
rs1060503727 | rs1060503727 | 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 | |
rs2471346883 | rs2471346883 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471346883 | rs2471346883 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578225793 | rs1578225793 | 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 | |
rs1578225793 | rs1578225793 | 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 | |
rs2153227636 | rs2153227636 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227636 | rs2153227636 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1705177318 | rs1705177318 | 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 | |
rs1705177318 | rs1705177318 | 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 | |
rs1578225864 | rs1578225864 | 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 | |
rs1578225864 | rs1578225864 | 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 | 3:52406874:TTGTC:T | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52406874:TTGTC:T | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227651 | rs2153227651 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227651 | rs2153227651 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs868339867 | ga4gh:VA.itQNksFMgaaBJA5uaJJlvEnUNemISBuZ | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs868339867 | ga4gh:VA.itQNksFMgaaBJA5uaJJlvEnUNemISBuZ | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs868339867 | ga4gh:VA.5XgxADH9OOqwUKKDPO3OSU9EJjoah4Af | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs868339867 | ga4gh:VA.5XgxADH9OOqwUKKDPO3OSU9EJjoah4Af | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227652 | rs2153227652 | ClinVar: pathogenic (2★) — Kury-Isidor syndrome|Melanoma, uveal, susceptibility to, 2|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Kury-Isidor syndrome|Melanoma, uveal, susceptibility to, 2|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | |
rs2153227652 | rs2153227652 | ClinVar: pathogenic (2★) — Kury-Isidor syndrome|Melanoma, uveal, susceptibility to, 2|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Kury-Isidor syndrome|Melanoma, uveal, susceptibility to, 2|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | |
rs2153227653 | rs2153227653 | 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 | |
rs2153227653 | rs2153227653 | 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 | |
rs2471347358 | rs2471347358 | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471347358 | rs2471347358 | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227660 | rs2153227660 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227660 | rs2153227660 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1205668341 | 3:52406895:T:TC | ClinVar: pathogenic (2★) — not provided|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | |
rs1205668341 | 3:52406895:TC:T | ClinVar: pathogenic (2★) — not provided|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | |
rs1205668341 | 3:52406895:T:TC | ClinVar: pathogenic (2★) — not provided|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | |
rs1205668341 | 3:52406895:TC:T | ClinVar: pathogenic (2★) — not provided|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome | |
rs1553645720 | rs1553645720 | 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 | |
rs1553645720 | rs1553645720 | 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 | |
rs1193212091 | rs1193212091 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1193212091 | rs1193212091 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1553645728 | rs1553645728 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided | |
rs1553645728 | rs1553645728 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided | |
rs1553645725 | rs1553645725 | 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 | |
rs1553645725 | rs1553645725 | 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 | ga4gh:VA.9eAbZzxv_idWUuy8V73yAYi7PHQ352jC | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | ga4gh:VA.9eAbZzxv_idWUuy8V73yAYi7PHQ352jC | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553645729 | ga4gh:VA.Q7DAhkLxWnD1TQciu0XoQEfjgPB5MaZA | 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 | |
rs1553645729 | ga4gh:VA.Q7DAhkLxWnD1TQciu0XoQEfjgPB5MaZA | 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 | |
rs1553645729 | ga4gh:VA.mgLK_N9jieyXjsN7hVHXMYFj-HzIqHcM | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553645729 | ga4gh:VA.mgLK_N9jieyXjsN7hVHXMYFj-HzIqHcM | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1430317959 | rs1430317959 | ClinVar: pathogenic (2★) — not provided|BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | not provided|BAP1-related tumor predisposition syndrome | |
rs1430317959 | rs1430317959 | ClinVar: pathogenic (2★) — not provided|BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | not provided|BAP1-related tumor predisposition syndrome | |
rs2153227761 | rs2153227761 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227761 | rs2153227761 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553645785 | ga4gh:VA.hxvQCC_tAb06OYR-grxr6cI8xDCznCVW | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1553645785 | ga4gh:VA.hxvQCC_tAb06OYR-grxr6cI8xDCznCVW | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1553645785 | ga4gh:VA.ge2XHeYLJWYIoyNovXIt6_7tqmTUqcmK | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1553645785 | ga4gh:VA.ge2XHeYLJWYIoyNovXIt6_7tqmTUqcmK | ClinVar: likely_pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52407183:T:TG | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
null | 3:52407183:T:TG | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227786 | rs2153227786 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2153227786 | rs2153227786 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471349752 | rs2471349752 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471349752 | rs2471349752 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1060503726 | rs1060503726 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1060503726 | rs1060503726 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471349839 | rs2471349839 | 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 | |
rs2471349839 | rs2471349839 | 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 | ga4gh:VA.IfrIsalVdQJmzpeGm8KK_r2wad_s7RRF | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.IfrIsalVdQJmzpeGm8KK_r2wad_s7RRF | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs2471349981 | rs2471349981 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs2471349981 | rs2471349981 | ClinVar: pathogenic (1★) — BAP1-related tumor predisposition syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | BAP1-related tumor predisposition syndrome | |
rs1578226444 | rs1578226444 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome | |
rs1578226444 | rs1578226444 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | BAP1 | Hereditary cancer-predisposing syndrome |
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