question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Gene CHEK2 (checkpoint kinase 2) variant at chromosome 22, position 28711971—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATG... | TCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATG... | pathogenic | 324,769 |
Is chromosome 22, position 28711973, gene CHEK2 (checkpoint kinase 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCT... | TTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCT... | pathogenic | 324,771 |
A mutation at chromosome position 28711976 on chromosome 22 in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast', 'Li-Fraumeni_syndrome_2'] | ATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGG... | ATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGG... | pathogenic | 324,773 |
The genetic variant at chromosome 22, position 28711984, affecting gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGGCAAATAGT... | GAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGGCAAATAGT... | pathogenic | 324,775 |
Considering the genetic mutation at chromosome 22, position 28711988, impacting CHEK2 (checkpoint kinase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGGCAAATAGTAAGC... | GGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGGCAAATAGTAAGC... | pathogenic | 324,778 |
The mutation impacting CHEK2 (checkpoint kinase 2) on chromosome 22 at position 28712001: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGGCAAATAGTAAGCACTCAATAAATGG... | TCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGGCAAATAGTAAGCACTCAATAAATGG... | pathogenic | 324,782 |
Evaluate the clinical significance of the mutation at chromosome 22, position 28712004 in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGGCAAATAGTAAGCACTCAATAAATGGCCA... | CATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGGCAAATAGTAAGCACTCAATAAATGGCCA... | pathogenic | 324,785 |
Mutation at chromosome 22, position 28712006, within CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast'] | TATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGGCAAATAGTAAGCACTCAATAAATGGCCAGG... | TATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGGCAAATAGTAAGCACTCAATAAATGGCCAGG... | pathogenic | 324,786 |
Determine whether the variant at chromosome 22, position 28712018, in gene CHEK2 (checkpoint kinase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGGCAAATAGTAAGCACTCAATAAATGGCCAGGCCCTGTGCCAAG... | GATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGGCAAATAGTAAGCACTCAATAAATGGCCAGGCCCTGTGCCAAG... | pathogenic | 324,791 |
Considering the variant on chromosome 22, location 28712094, involving gene CHEK2 (checkpoint kinase 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGGCAAATAGTAAGCACTCAATAAATGGCCAGGCCCTGTGCCAAGCTCTTTATTTACAGAGATCATGTCTCATAAGCCTCAGAATCCCCATCTTACAGATGGGGCAACCAAGGCTCAGAAA... | TTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTGTAAAATGCTTGGCAAATAGTAAGCACTCAATAAATGGCCAGGCCCTGTGCCAAGCTCTTTATTTACAGAGATCATGTCTCATAAGCCTCAGAATCCCCATCTTACAGATGGGGCAACCAAGGCTCAGAAA... | benign | 324,803 |
Evaluate the clinical significance of the mutation at chromosome 22, position 28719393 in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_cancer_of_breast'] | TCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAGAAGAAAAAAATAAATGTAACTCATCTTAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTC... | TCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAGAAGAAAAAAATAAATGTAACTCATCTTAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTC... | pathogenic | 324,811 |
Assess the variant on chromosome 22, position 28719404, impacting CHEK2 (checkpoint kinase 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGACAGAGCGAGACTCCATCTCAAGAAGAAAAAAATAAATGTAACTCATCTTAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAG... | TGACAGAGCGAGACTCCATCTCAAGAAGAAAAAAATAAATGTAACTCATCTTAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAG... | pathogenic | 324,815 |
Gene CHEK2 (checkpoint kinase 2) variant at chromosome position 28719404 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGACAGAGCGAGACTCCATCTCAAGAAGAAAAAAATAAATGTAACTCATCTTAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAG... | TGACAGAGCGAGACTCCATCTCAAGAAGAAAAAAATAAATGTAACTCATCTTAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAG... | pathogenic | 324,816 |
Regarding the variant at chromosome 22 and position 28719413, affecting gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer'] | GAGACTCCATCTCAAGAAGAAAAAAATAAATGTAACTCATCTTAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAG... | GAGACTCCATCTCAAGAAGAAAAAAATAAATGTAACTCATCTTAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAG... | pathogenic | 324,818 |
Does the variant impacting CHEK2 (checkpoint kinase 2) on chromosome 22, position 28719422, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTCAAGAAGAAAAAAATAAATGTAACTCATCTTAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATG... | TCTCAAGAAGAAAAAAATAAATGTAACTCATCTTAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATG... | pathogenic | 324,822 |
A genetic alteration at chromosome 22, position 28719445, in gene CHEK2 (checkpoint kinase 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAACTCATCTTAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAA... | TAACTCATCTTAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAA... | pathogenic | 324,828 |
Regarding the variant found on chromosome 22 at position 28719451 in gene CHEK2 (checkpoint kinase 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATCTTAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAA... | ATCTTAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAA... | pathogenic | 324,832 |
The genetic variant at chromosome 22, position 28719455, affecting gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAA... | TAACATGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAA... | pathogenic | 324,835 |
Variant in CHEK2 (checkpoint kinase 2), chromosome 22, position 28719460—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | TGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAATTAG... | TGTAGTAAATTTACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAATTAG... | pathogenic | 324,837 |
Is the genetic variant on chromosome 22, position 28719471, gene CHEK2 (checkpoint kinase 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast_cancer,_susceptibility_to', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Prostate_cancer_susceptibility'] | TACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGTG... | TACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGTG... | pathogenic | 324,840 |
Does the chromosome 22 mutation at position 28719471 within gene CHEK2 (checkpoint kinase 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGTG... | TACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGTG... | pathogenic | 324,841 |
Determine if the mutation at chromosome 22, position 28719471 in gene CHEK2 (checkpoint kinase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGTG... | TACCTAATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGTG... | pathogenic | 324,842 |
Does the variant impacting CHEK2 (checkpoint kinase 2) on chromosome 22, position 28719477, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast'] | ATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGTGGTGGCG... | ATGAATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGTGGTGGCG... | pathogenic | 324,843 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 28719480, gene CHEK2 (checkpoint kinase 2): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGTGGTGGCGGGC... | AATTAATATAAAAATGTCTTGGCAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGTGGTGGCGGGC... | pathogenic | 324,845 |
Is chromosome 22, position 28719502, gene CHEK2 (checkpoint kinase 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGTGGTGGCGGGCACCTGTAATCCCAGCTACCTGG... | CAAAATGCAGTGGTTCACACCTGTAATCCCAACATTTTGAGAGGCTGAGGCAGGAGGATAACTTGAGCCCAGGAGTTCGAGACAAGCCTAGGCAATACAGCAAGACTCATCTCTACAGTAAAAAAAAAAATAAAAATTAGGGCCGGGAGTGGTGGCTCACGCCTATAATCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGTGGTGGCGGGCACCTGTAATCCCAGCTACCTGG... | benign | 324,857 |
Variant in gene CHEK2 (checkpoint kinase 2), located at chromosome 22 position 28724895: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GCAGGGACTACAGACTCATGCCGCAGCCCCTAGAGGCATGATTTTTAAAATCCCTACCAGAATCTGGAGAAGAGTGCTTATATGAACCTTTATTTTCAAAATGTGTCGCACACACATAGACACCCTCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATG... | GCAGGGACTACAGACTCATGCCGCAGCCCCTAGAGGCATGATTTTTAAAATCCCTACCAGAATCTGGAGAAGAGTGCTTATATGAACCTTTATTTTCAAAATGTGTCGCACACACATAGACACCCTCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATG... | benign | 324,861 |
Variant at chromosome position 28724963, chromosome 22, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GAAGAGTGCTTATATGAACCTTTATTTTCAAAATGTGTCGCACACACATAGACACCCTCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTA... | GAAGAGTGCTTATATGAACCTTTATTTTCAAAATGTGTCGCACACACATAGACACCCTCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTA... | benign | 324,866 |
Is chromosome 22, position 28724977, gene CHEK2 (checkpoint kinase 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast_and/or_ovarian_cancer', 'CHEK2-related_disorder', 'Colorectal_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_breast_cancer_and_ovarian_cancer', 'Malignant_tumor_of_breast', 'Malignant_tumor_of_prostate'] | TGAACCTTTATTTTCAAAATGTGTCGCACACACATAGACACCCTCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGA... | TGAACCTTTATTTTCAAAATGTGTCGCACACACATAGACACCCTCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGA... | pathogenic | 324,875 |
Is the genetic change at chromosome 22, position 28724990, within gene CHEK2 (checkpoint kinase 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCAAAATGTGTCGCACACACATAGACACCCTCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGA... | TCAAAATGTGTCGCACACACATAGACACCCTCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGA... | pathogenic | 324,878 |
Clinical classification of chromosome 22, position 28725011, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAGACACCCTCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCAC... | TAGACACCCTCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCAC... | pathogenic | 324,885 |
Is the genetic variant on chromosome 22, position 28725013, gene CHEK2 (checkpoint kinase 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GACACCCTCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAG... | GACACCCTCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAG... | pathogenic | 324,886 |
Is the variant located on chromosome 22 at position 28725020, gene CHEK2 (checkpoint kinase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTA... | TCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTA... | pathogenic | 324,888 |
Is the genetic change at chromosome 22, position 28725031, within gene CHEK2 (checkpoint kinase 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast'] | CGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATA... | CGACTCTCAGATAAGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATA... | pathogenic | 324,890 |
Regarding the variant at chromosome 22 and position 28725044, affecting gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAAT... | AGTTTGGGAACGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAAT... | pathogenic | 324,897 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 28725054, gene CHEK2 (checkpoint kinase 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCG... | CGTCTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCG... | pathogenic | 324,899 |
Regarding the variant at chromosome 22 and position 28725061, affecting gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Colorectal_cancer', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome_2'] | GGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGC... | GGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGC... | pathogenic | 324,900 |
Does the genetic variant at chromosome 22, position 28725085, impacting gene CHEK2 (checkpoint kinase 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT... | GTATTCCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT... | pathogenic | 324,905 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 28725090, gene CHEK2 (checkpoint kinase 2): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG... | CCTCCTGTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG... | pathogenic | 324,907 |
The mutation in gene CHEK2 (checkpoint kinase 2) at chromosome 22, position 28725096—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG... | GTCTAATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG... | pathogenic | 324,910 |
Located at chromosome 22 position 28725100, the variant affecting gene CHEK2 (checkpoint kinase 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG... | AATCACGCTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG... | pathogenic | 324,912 |
Gene CHEK2 (checkpoint kinase 2) variant at chromosome 22, position 28725116—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast'] | TTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCA... | TTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCA... | pathogenic | 324,918 |
Considering the genetic mutation at chromosome 22, position 28725119, impacting CHEK2 (checkpoint kinase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA... | TAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA... | pathogenic | 324,920 |
Classify the chromosome 22 variant at position 28725122 affecting gene CHEK2 (checkpoint kinase 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGAT... | CTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGAT... | pathogenic | 324,921 |
Regarding the variant found on chromosome 22 at position 28725134 in gene CHEK2 (checkpoint kinase 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCT... | TTTTTGTCAGGTATCCTTTCTAGATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTTCAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCT... | benign | 324,929 |
Chromosome 22, position 28725241, gene CHEK2 (checkpoint kinase 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATG... | GGCTGATAAACATCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATG... | pathogenic | 324,939 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 28725253, gene CHEK2 (checkpoint kinase 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | TCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG... | TCTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG... | pathogenic | 324,945 |
Determine whether the variant at chromosome 22, position 28725254, in gene CHEK2 (checkpoint kinase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast'] | CTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG... | CTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG... | pathogenic | 324,947 |
Mutation at chromosome 22, position 28725254, within CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG... | CTCCACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG... | pathogenic | 324,949 |
Evaluate this variant at chromosome 22, position 28725258, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC... | ACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC... | pathogenic | 324,951 |
Chromosome 22, position 28725269, gene CHEK2 (checkpoint kinase 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG... | ATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG... | pathogenic | 324,953 |
A genetic alteration at chromosome 22, position 28725281, in gene CHEK2 (checkpoint kinase 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC... | TATTTACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC... | pathogenic | 324,961 |
Determine whether the variant at chromosome 22, position 28725285, in gene CHEK2 (checkpoint kinase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast'] | TACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC... | TACAAAGGTAGAAGCTCTAAAGTGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC... | pathogenic | 324,962 |
Gene CHEK2 (checkpoint kinase 2) variant at chromosome 22, position 28725314—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCA... | CTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCA... | pathogenic | 324,970 |
Evaluate this variant at chromosome 22, position 28725320, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTC... | GAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTC... | pathogenic | 324,973 |
Chromosome 22, position 28725322, gene CHEK2 (checkpoint kinase 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCG... | AGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCG... | pathogenic | 324,974 |
Evaluate if the mutation on chromosome 22 at position 28725322 in CHEK2 (checkpoint kinase 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | AGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCG... | AGCACTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCG... | pathogenic | 324,975 |
Gene CHEK2 (checkpoint kinase 2) variant at chromosome position 28725326 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCAC... | CTCACAGCCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCAC... | pathogenic | 324,976 |
Clinical significance of chromosome 22, position 28725333, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCACAAGGAAA... | CCTAGTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCACAAGGAAA... | pathogenic | 324,978 |
Located at chromosome 22 position 28725337, the variant affecting gene CHEK2 (checkpoint kinase 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast'] | GTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCACAAGGAAAAAAA... | GTACCTGGCATATAAAAAGAGCTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCACAAGGAAAAAAA... | pathogenic | 324,980 |
Considering the variant on chromosome 22, location 28725362, involving gene CHEK2 (checkpoint kinase 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCACAAGGAAAAAAAAAGAAAAAAAAAAAAAAGGAGCTCA... | ATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCACAAGGAAAAAAAAAGAAAAAAAAAAAAAAGGAGCTCA... | pathogenic | 324,990 |
A genetic variant on chromosome 22, position 28734359, affects the gene CHEK2 (checkpoint kinase 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATA... | ATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATA... | benign | 325,001 |
Regarding the variant at chromosome 22 and position 28734401, affecting gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGA... | CGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGA... | pathogenic | 325,011 |
Gene CHEK2 (checkpoint kinase 2) variant at chromosome position 28734406 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGA... | ATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGA... | pathogenic | 325,016 |
Is chromosome 22, position 28734426, gene CHEK2 (checkpoint kinase 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGGATTACAGGCATGAGCCACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAG... | TGGGATTACAGGCATGAGCCACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAG... | pathogenic | 325,021 |
Evaluate if the mutation on chromosome 22 at position 28734429 in CHEK2 (checkpoint kinase 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATTACAGGCATGAGCCACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGA... | GATTACAGGCATGAGCCACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGA... | pathogenic | 325,022 |
Variant at chromosome position 28734439, chromosome 22, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGAGCCACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAA... | ATGAGCCACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAA... | pathogenic | 325,028 |
Clinically, how would you classify the variant at chromosome 22, position 28734444, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'CHEK2-related_cancer_predisposition', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome_2', 'Predisposition_to_cancer'] | CCACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGA... | CCACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGA... | pathogenic | 325,032 |
Is the genetic variant on chromosome 22, position 28734445, gene CHEK2 (checkpoint kinase 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGAT... | CACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGAT... | pathogenic | 325,033 |
Does the genetic variant at chromosome 22, position 28734445, impacting gene CHEK2 (checkpoint kinase 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGAT... | CACCACGCCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGAT... | pathogenic | 325,034 |
Clinical significance of chromosome 22, position 28734452, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAG... | CCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAG... | pathogenic | 325,036 |
Variant chromosome 22, position 28734452, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAG... | CCTGGCCTAATTTTTGTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAG... | pathogenic | 325,037 |
The chromosome 22, position 28734467 genetic variant in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast'] | GTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTA... | GTATTTTTAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTA... | pathogenic | 325,042 |
Determine whether the variant at chromosome 22, position 28734474, in gene CHEK2 (checkpoint kinase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAAC... | TAACAGAGACAGGGTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAAC... | pathogenic | 325,046 |
Considering the variant on chromosome 22, location 28734487, involving gene CHEK2 (checkpoint kinase 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTG... | GTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTG... | pathogenic | 325,051 |
Regarding the variant at chromosome 22 and position 28734487, affecting gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast'] | GTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTG... | GTTTCCCCATGTTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTG... | pathogenic | 325,052 |
Is the genetic change at chromosome 22, position 28734498, within gene CHEK2 (checkpoint kinase 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome_2', 'Malignant_tumor_of_breast'] | TTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAG... | TTGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAG... | pathogenic | 325,057 |
Clinical classification of chromosome 22, position 28734499, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGT... | TGGCCAGGATGGCCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGT... | pathogenic | 325,058 |
Clinical classification of chromosome 22, position 28734526, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | CTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATT... | CTCAGGTGATCCACCTGCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATT... | pathogenic | 325,064 |
The mutation impacting CHEK2 (checkpoint kinase 2) on chromosome 22 at position 28734542: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast'] | GCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAG... | GCCTTGGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAG... | pathogenic | 325,068 |
Variant in CHEK2 (checkpoint kinase 2), chromosome 22, position 28734547—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_cancer_of_breast'] | GGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAA... | GGTCTCTCAACGTGCTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAA... | pathogenic | 325,070 |
A genetic variant on chromosome 22, position 28734561, affects the gene CHEK2 (checkpoint kinase 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTT... | CTGGGATTACAGGCATGAGCCACAATGCCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTT... | pathogenic | 325,073 |
Does the variant on chromosome 22 at location 28734588 affecting gene CHEK2 (checkpoint kinase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCC... | CCCGGTCTGAAAAATATATTTTAAATCAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCC... | pathogenic | 325,077 |
Clinical significance of chromosome 22, position 28734614, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bone_osteosarcoma', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Li-Fraumeni_syndrome_2'] | CAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCA... | CAGTTAAAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCA... | pathogenic | 325,083 |
Determine whether the variant at chromosome 22, position 28734620, in gene CHEK2 (checkpoint kinase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCA... | AAAATAGCTTCGAGTGTCTACTTATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCA... | pathogenic | 325,087 |
Variant in CHEK2 (checkpoint kinase 2), chromosome 22, position 28734642—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCT... | TATAAATTTAAAGTTGTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCT... | pathogenic | 325,098 |
Assess the variant on chromosome 22, position 28734657, impacting CHEK2 (checkpoint kinase 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGA... | GTATATGTGGAATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGA... | pathogenic | 325,106 |
Is the chromosome 22, position 28734668 variant in CHEK2 (checkpoint kinase 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGATTGCAGACATG... | ATGCAGGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGATTGCAGACATG... | pathogenic | 325,110 |
Classify the chromosome 22 variant at position 28734690 affecting gene CHEK2 (checkpoint kinase 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGATTGCAGACATGCGCCACCACACCTGGCTAATTT... | TTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGATTGCAGACATGCGCCACCACACCTGGCTAATTT... | pathogenic | 325,116 |
A mutation at chromosome position 28734701 on chromosome 22 in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGATTGCAGACATGCGCCACCACACCTGGCTAATTTTTGTATTTTCA... | TTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGATTGCAGACATGCGCCACCACACCTGGCTAATTTTTGTATTTTCA... | pathogenic | 325,123 |
The mutation impacting CHEK2 (checkpoint kinase 2) on chromosome 22 at position 28734705: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['CHEK2-related_disorder', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGATTGCAGACATGCGCCACCACACCTGGCTAATTTTTGTATTTTCAGGAG... | AGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGATTGCAGACATGCGCCACCACACCTGGCTAATTTTTGTATTTTCAGGAG... | pathogenic | 325,125 |
Evaluate this variant at chromosome 22, position 28734711, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGATTGCAGACATGCGCCACCACACCTGGCTAATTTTTGTATTTTCAGGAGAGACAG... | CAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGATTGCAGACATGCGCCACCACACCTGGCTAATTTTTGTATTTTCAGGAGAGACAG... | pathogenic | 325,127 |
Is the genetic variant on chromosome 22, position 28741771, gene CHEK2 (checkpoint kinase 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | ATACCATCTCACCCAAGTTAAAATGGTTTGTATAAAAGATAGGCAAAACAGATGCTGGAAAGAATGTGCAGAAAGGGGAACTGTATAGAGTGCTCTTGACATAAGTAATTTTATCTTAGAAAAAGGCTCTATCTTATATTTTAAAAGGCATTATGCCAACAGGGACCAGATGTTTGTCTAATTAATAAAGACTGTACTGGCCATGTACAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCGACATGGTGAAACCCCAACTCTACTAAAA... | ATACCATCTCACCCAAGTTAAAATGGTTTGTATAAAAGATAGGCAAAACAGATGCTGGAAAGAATGTGCAGAAAGGGGAACTGTATAGAGTGCTCTTGACATAAGTAATTTTATCTTAGAAAAAGGCTCTATCTTATATTTTAAAAGGCATTATGCCAACAGGGACCAGATGTTTGTCTAATTAATAAAGACTGTACTGGCCATGTACAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCGACATGGTGAAACCCCAACTCTACTAAAA... | benign | 325,129 |
A genetic alteration at chromosome 22, position 29489138, in gene NEFH (neurofilament heavy chain)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GGAAGCACAGGTACCACTGGGCTGCTACAGAGGGAACCCTTAGTCAGTGGCAGCCTTGAGAAATCCAGTCTGAGGAATAAGACCGGGGGGAGCAGGGCTAGGGAGCAGGACTGATTCCCTGAGGACTTGTCCCAGTTCTGACTGGTGACCTGTGGCTTCCTACCTCTTGGCTCTCGTCTGTAATCTTGCTACTCAAAGCATGGCACATGAACCAGCAGAATTGGCATCATTCAAGAGCTTATCAGAAAGATAGTCTCTTGGTTGGGTGTAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGACAGAT... | GGAAGCACAGGTACCACTGGGCTGCTACAGAGGGAACCCTTAGTCAGTGGCAGCCTTGAGAAATCCAGTCTGAGGAATAAGACCGGGGGGAGCAGGGCTAGGGAGCAGGACTGATTCCCTGAGGACTTGTCCCAGTTCTGACTGGTGACCTGTGGCTTCCTACCTCTTGGCTCTCGTCTGTAATCTTGCTACTCAAAGCATGGCACATGAACCAGCAGAATTGGCATCATTCAAGAGCTTATCAGAAAGATAGTCTCTTGGTTGGGTGTAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGACAGAT... | benign | 325,208 |
Chromosome 22, position 29489578, gene NEFH (neurofilament heavy chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GCTGACGTGGGAGGATCACCTGAGCCTGGGAGTTGGAGGCTTCAGTGAGCTATGATCGTGCCACTGCACTCCAGCCTGTCATCACAGAGTGAGACACTGTCTCAAAAATAACAACAACACAACAACAACAAAAGACAGACGCTCAGCCCCTCCCCAGACCTGCTGAATCAGAATCTGCATTTTGATAAGATCCCCGGTCATCTGTGTGCTGCTAAATTTGGGAAGTACTAGTCTGAGGGGTAACCCCCACACTTACTCTGAGACAAGCATTCTGCCAAGTCTTTTCCATTCATTGTCTCACTGAAACAACCCTCTGACGT... | GCTGACGTGGGAGGATCACCTGAGCCTGGGAGTTGGAGGCTTCAGTGAGCTATGATCGTGCCACTGCACTCCAGCCTGTCATCACAGAGTGAGACACTGTCTCAAAAATAACAACAACACAACAACAACAAAAGACAGACGCTCAGCCCCTCCCCAGACCTGCTGAATCAGAATCTGCATTTTGATAAGATCCCCGGTCATCTGTGTGCTGCTAAATTTGGGAAGTACTAGTCTGAGGGGTAACCCCCACACTTACTCTGAGACAAGCATTCTGCCAAGTCTTTTCCATTCATTGTCTCACTGAAACAACCCTCTGACGT... | benign | 325,216 |
Variant at chromosome position 29489591, chromosome 22, gene NEFH (neurofilament heavy chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GATCACCTGAGCCTGGGAGTTGGAGGCTTCAGTGAGCTATGATCGTGCCACTGCACTCCAGCCTGTCATCACAGAGTGAGACACTGTCTCAAAAATAACAACAACACAACAACAACAAAAGACAGACGCTCAGCCCCTCCCCAGACCTGCTGAATCAGAATCTGCATTTTGATAAGATCCCCGGTCATCTGTGTGCTGCTAAATTTGGGAAGTACTAGTCTGAGGGGTAACCCCCACACTTACTCTGAGACAAGCATTCTGCCAAGTCTTTTCCATTCATTGTCTCACTGAAACAACCCTCTGACGTAGGGACTCTAATG... | GATCACCTGAGCCTGGGAGTTGGAGGCTTCAGTGAGCTATGATCGTGCCACTGCACTCCAGCCTGTCATCACAGAGTGAGACACTGTCTCAAAAATAACAACAACACAACAACAACAAAAGACAGACGCTCAGCCCCTCCCCAGACCTGCTGAATCAGAATCTGCATTTTGATAAGATCCCCGGTCATCTGTGTGCTGCTAAATTTGGGAAGTACTAGTCTGAGGGGTAACCCCCACACTTACTCTGAGACAAGCATTCTGCCAAGTCTTTTCCATTCATTGTCTCACTGAAACAACCCTCTGACGTAGGGACTCTAATG... | benign | 325,218 |
A genetic alteration at chromosome 22, position 29489869, in gene NEFH (neurofilament heavy chain)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ATTGTCTCACTGAAACAACCCTCTGACGTAGGGACTCTAATGACCCTCTTTTTCCAGTGAGGAAATTGAGGCTCAAAGAGTTGGTGTGTCTTGGCCAAGGTCACCCATCTAGTGAGGAGCAAAGCCAAGAGGAGAAACTGCGGCCTCTACCCTATTCCTGAAACTCAAAAGATGGTAATACAGGGTGATGAGAGACACTCGCGATTCAAATGGGAGCGTTCTAAGACCTCTTAAACCCAAATTTATAAAAGTAGAATTGTGGTCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGA... | ATTGTCTCACTGAAACAACCCTCTGACGTAGGGACTCTAATGACCCTCTTTTTCCAGTGAGGAAATTGAGGCTCAAAGAGTTGGTGTGTCTTGGCCAAGGTCACCCATCTAGTGAGGAGCAAAGCCAAGAGGAGAAACTGCGGCCTCTACCCTATTCCTGAAACTCAAAAGATGGTAATACAGGGTGATGAGAGACACTCGCGATTCAAATGGGAGCGTTCTAAGACCTCTTAAACCCAAATTTATAAAAGTAGAATTGTGGTCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGA... | benign | 325,230 |
Is the chromosome 22, position 29489872 variant in NEFH (neurofilament heavy chain) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GTCTCACTGAAACAACCCTCTGACGTAGGGACTCTAATGACCCTCTTTTTCCAGTGAGGAAATTGAGGCTCAAAGAGTTGGTGTGTCTTGGCCAAGGTCACCCATCTAGTGAGGAGCAAAGCCAAGAGGAGAAACTGCGGCCTCTACCCTATTCCTGAAACTCAAAAGATGGTAATACAGGGTGATGAGAGACACTCGCGATTCAAATGGGAGCGTTCTAAGACCTCTTAAACCCAAATTTATAAAAGTAGAATTGTGGTCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCG... | GTCTCACTGAAACAACCCTCTGACGTAGGGACTCTAATGACCCTCTTTTTCCAGTGAGGAAATTGAGGCTCAAAGAGTTGGTGTGTCTTGGCCAAGGTCACCCATCTAGTGAGGAGCAAAGCCAAGAGGAGAAACTGCGGCCTCTACCCTATTCCTGAAACTCAAAAGATGGTAATACAGGGTGATGAGAGACACTCGCGATTCAAATGGGAGCGTTCTAAGACCTCTTAAACCCAAATTTATAAAAGTAGAATTGTGGTCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCG... | benign | 325,232 |
Gene NEFH (neurofilament heavy chain) variant at chromosome 22, position 29490261—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AATTAACTGGACGTGGTGGCGTGCGCCTGTACTCCCAGCTACTCAGTAGGCTGAGACAGGAGAATTGCTTGAAGCTGGGGGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAACTGAGATTGTACCACTGGACTCCAGCCTAGGTGACAGAGCAAGACTCCGTCTCAAAAAAAGGAAAAAAAAAAGTGGAATTGTTTGCTCAGGCTCCCAGGGTTCTCTTGAATAATATTTTAGTTTGAGGGACAATAAATTTAACTTTTGTTAAATTTATTTAGGAGCTTTCTCTTGAGGGCCATTTTTTATGGGGCAAAAGTTG... | AATTAACTGGACGTGGTGGCGTGCGCCTGTACTCCCAGCTACTCAGTAGGCTGAGACAGGAGAATTGCTTGAAGCTGGGGGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAACTGAGATTGTACCACTGGACTCCAGCCTAGGTGACAGAGCAAGACTCCGTCTCAAAAAAAGGAAAAAAAAAAGTGGAATTGTTTGCTCAGGCTCCCAGGGTTCTCTTGAATAATATTTTAGTTTGAGGGACAATAAATTTAACTTTTGTTAAATTTATTTAGGAGCTTTCTCTTGAGGGCCATTTTTTATGGGGCAAAAGTTG... | benign | 325,236 |
Regarding the variant at chromosome 22 and position 29490693, affecting gene NEFH (neurofilament heavy chain): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic | CCCACCGGGGTACACATTCTGGGTGGTCACTGGAATGATTTGCCAAGTGACTTTCTCTAGTCTCATAATGCCCACCATTCACATTCCTGTTCCACCAAAACCCATATCATTCGATGTCAGTGACCTTCAGGATAGTCTAGGAAGAACCCAAATAGTGAATTTGCCCTGAGTTTATACTAATGTGTTCCGTGATCCATCCTGCAGAAAACTCCTGGAAGGTGAAGAGTGTCGGATTGGCTTTGGCCCAATTCCTTTCTCGCTTCCAGAAGGACTCCCCAAAATTCCCTCTGTGTCCACTCACATAAAGGTGAAAAGCGAAG... | CCCACCGGGGTACACATTCTGGGTGGTCACTGGAATGATTTGCCAAGTGACTTTCTCTAGTCTCATAATGCCCACCATTCACATTCCTGTTCCACCAAAACCCATATCATTCGATGTCAGTGACCTTCAGGATAGTCTAGGAAGAACCCAAATAGTGAATTTGCCCTGAGTTTATACTAATGTGTTCCGTGATCCATCCTGCAGAAAACTCCTGGAAGGTGAAGAGTGTCGGATTGGCTTTGGCCCAATTCCTTTCTCGCTTCCAGAAGGACTCCCCAAAATTCCCTCTGTGTCCACTCACATAAAGGTGAAAAGCGAAG... | pathogenic | 325,243 |
Considering the genetic mutation at chromosome 22, position 29604004, impacting NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Neurofibromatosis,_type_2'] | AGTCAGCGAGTGGCTCTATCATATCTCTCAGTATCTTCACCTGTGGAGTTGGGGGGGTGATGCTAATGTTAGCTAACATTTATGGGGTGATTATTGTTGTTAAAACTCAGTACACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCCCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAACTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCG... | AGTCAGCGAGTGGCTCTATCATATCTCTCAGTATCTTCACCTGTGGAGTTGGGGGGGTGATGCTAATGTTAGCTAACATTTATGGGGTGATTATTGTTGTTAAAACTCAGTACACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCCCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAACTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCG... | pathogenic | 325,251 |
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