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 |
|---|---|---|---|---|---|
Is the chromosome 22, position 28695202 variant in CHEK2 (checkpoint kinase 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast'] | GACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGAT... | GACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGAT... | pathogenic | 324,423 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 28695208, gene CHEK2 (checkpoint kinase 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | ACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGG... | ACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGG... | pathogenic | 324,428 |
Determine whether the variant at chromosome 22, position 28695210, 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'] | ATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTT... | ATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTT... | pathogenic | 324,430 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 28695211, gene CHEK2 (checkpoint kinase 2): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTG... | TCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTG... | pathogenic | 324,431 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 28695217, gene CHEK2 (checkpoint kinase 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATG... | AGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATG... | pathogenic | 324,433 |
Gene CHEK2 (checkpoint kinase 2) variant at chromosome 22, position 28695222—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGG... | AACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGG... | pathogenic | 324,436 |
A genetic variant at chromosome 22, position 28695226, affecting gene CHEK2 (checkpoint kinase 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Li-Fraumeni_syndrome_2'] | TGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATG... | TGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATG... | pathogenic | 324,437 |
Evaluate if the mutation on chromosome 22 at position 28695230 in CHEK2 (checkpoint kinase 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACC... | CAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACC... | pathogenic | 324,442 |
Does the variant impacting CHEK2 (checkpoint kinase 2) on chromosome 22, position 28695238, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bone_osteosarcoma', 'Breast_and/or_ovarian_cancer', 'CHEK2-related_cancer_predisposition', 'CHEK2-related_disorder', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome_2', 'Malignant_tumor_o... | TGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTAT... | TGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTAT... | pathogenic | 324,443 |
A genetic variant at chromosome 22, position 28695714, affecting gene CHEK2 (checkpoint kinase 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCA... | CTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCA... | pathogenic | 324,460 |
A genetic alteration at chromosome 22, position 28695714, 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'] | CTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCA... | CTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCA... | pathogenic | 324,461 |
Benign or pathogenic: chromosome 22, position 28695715, gene CHEK2 (checkpoint kinase 2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | TGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAG... | TGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAG... | pathogenic | 324,462 |
Determine whether the variant at chromosome 22, position 28695720, in gene CHEK2 (checkpoint kinase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast'] | AGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTT... | AGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTT... | pathogenic | 324,463 |
A genetic variant at chromosome 22, position 28695722, affecting gene CHEK2 (checkpoint kinase 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast'] | CACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCC... | CACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCC... | pathogenic | 324,465 |
Determine whether the variant at chromosome 22, position 28695723, in gene CHEK2 (checkpoint kinase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCC... | ACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCC... | pathogenic | 324,466 |
Does the variant on chromosome 22 at location 28695730 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_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome_2'] | AACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATT... | AACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATT... | pathogenic | 324,469 |
Evaluate if the mutation on chromosome 22 at position 28695731 in CHEK2 (checkpoint kinase 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTT... | ACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTT... | pathogenic | 324,471 |
Assess the variant on chromosome 22, position 28695735, 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'] | CATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATG... | CATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATG... | pathogenic | 324,472 |
Evaluate this variant at chromosome 22, position 28695749, 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'] | ATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGT... | ATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGT... | pathogenic | 324,477 |
Mutation at chromosome 22, position 28695763, within CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast'] | TGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTG... | TGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTG... | pathogenic | 324,482 |
Considering the genetic mutation at chromosome 22, position 28695771, 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'] | GCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACG... | GCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACG... | pathogenic | 324,487 |
Chromosome 22, position 28695771, 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'] | GCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACG... | GCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACG... | pathogenic | 324,488 |
Mutation at chromosome 22, position 28695774, within CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast'] | GCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGT... | GCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGT... | pathogenic | 324,490 |
Considering the genetic mutation at chromosome 22, position 28695780, 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'] | ACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTA... | ACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTA... | pathogenic | 324,491 |
Is the genetic mutation found on chromosome 22 at position 28695804, within the gene CHEK2 (checkpoint kinase 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTG... | GGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTG... | pathogenic | 324,503 |
The genetic variant at chromosome 22, position 28695804, affecting gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTG... | GGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTG... | pathogenic | 324,504 |
The chromosome 22, position 28695804 genetic variant in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTG... | GGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTG... | pathogenic | 324,505 |
Gene CHEK2 (checkpoint kinase 2) variant at chromosome position 28695826 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAA... | GAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAA... | pathogenic | 324,510 |
Chromosome 22, position 28695826, gene CHEK2 (checkpoint kinase 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast'] | GAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAA... | GAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAA... | pathogenic | 324,511 |
Classify the chromosome 22 variant at position 28695828 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'] | ACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACT... | ACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACT... | pathogenic | 324,512 |
Variant at chromosome 22, position 28695841, gene CHEK2 (checkpoint kinase 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTC... | AGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTC... | pathogenic | 324,517 |
Is the genetic mutation found on chromosome 22 at position 28695841, within the gene CHEK2 (checkpoint kinase 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTC... | AGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTC... | pathogenic | 324,518 |
Clinically, how would you classify the variant at chromosome 22, position 28695841, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTC... | AGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTC... | pathogenic | 324,519 |
The mutation impacting CHEK2 (checkpoint kinase 2) on chromosome 22 at position 28695852: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAG... | AGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAG... | pathogenic | 324,522 |
Is the chromosome 22, position 28695868 variant in CHEK2 (checkpoint kinase 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Astrocytoma', 'Bone_osteosarcoma', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Breast_and_colorectal_cancer,_susceptibility_to', 'Breast_cancer,_susceptibility_to', 'Breast_carcinoma', 'Breast_neoplasm', 'CHEK2-related_cancer_predisposition', 'CHEK2-related_di... | CTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAAT... | CTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAAT... | pathogenic | 324,528 |
Assess the variant on chromosome 22, position 28695870, 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'] | GCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCA... | GCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCA... | pathogenic | 324,529 |
A mutation at chromosome position 28695872 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_cancer-predisposing_syndrome'] | ACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACA... | ACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACA... | pathogenic | 324,531 |
Considering the variant on chromosome 22, location 28696903, 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'] | TAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTC... | TAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTC... | pathogenic | 324,546 |
Variant on chromosome 22, at position 28696910, affecting CHEK2 (checkpoint kinase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast'] | TATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGT... | TATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGT... | pathogenic | 324,548 |
A genetic alteration at chromosome 22, position 28696918, 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'] | GTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGAT... | GTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGAT... | pathogenic | 324,550 |
The mutation in gene CHEK2 (checkpoint kinase 2) at chromosome 22, position 28696932—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast'] | AAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACT... | AAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACT... | pathogenic | 324,554 |
Is chromosome 22, position 28696945, gene CHEK2 (checkpoint kinase 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast'] | ATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCT... | ATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCT... | pathogenic | 324,559 |
Mutation at chromosome 22, position 28696949, within CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast'] | AGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGA... | AGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGA... | pathogenic | 324,561 |
Gene CHEK2 (checkpoint kinase 2) variant at chromosome 22, position 28696965—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast'] | CTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCA... | CTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCA... | pathogenic | 324,567 |
Mutation found at chromosome 22 position 28696970, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAG... | GCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAG... | pathogenic | 324,568 |
Chromosome 22, position 28696973, 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'] | ACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCT... | ACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCT... | pathogenic | 324,570 |
Located at chromosome 22 position 28699831, the variant affecting gene CHEK2 (checkpoint kinase 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CCAAGCTGGTCTGGAACTCTTGGGCTAAAGTGACCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAG... | CCAAGCTGGTCTGGAACTCTTGGGCTAAAGTGACCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAG... | benign | 324,584 |
Benign or pathogenic: chromosome 22, position 28699838, gene CHEK2 (checkpoint kinase 2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTCTGGAACTCTTGGGCTAAAGTGACCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTG... | GGTCTGGAACTCTTGGGCTAAAGTGACCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTG... | pathogenic | 324,589 |
Determine if the mutation at chromosome 22, position 28699860 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'] | GTGACCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCC... | GTGACCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCC... | pathogenic | 324,597 |
Is the genetic variant on chromosome 22, position 28699866, gene CHEK2 (checkpoint kinase 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAAT... | TTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAAT... | pathogenic | 324,599 |
Considering the genetic mutation at chromosome 22, position 28699871, 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'] | ACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAG... | ACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAG... | pathogenic | 324,602 |
Does the variant on chromosome 22 at location 28699882 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'] | CCAAAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAG... | CCAAAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAG... | pathogenic | 324,603 |
Evaluate this variant at chromosome 22, position 28699885, 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'] | AAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTC... | AAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTC... | pathogenic | 324,605 |
Located at chromosome 22 position 28699893, the variant affecting gene CHEK2 (checkpoint kinase 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGG... | GGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGG... | pathogenic | 324,611 |
Variant at chromosome 22, position 28699907, gene CHEK2 (checkpoint kinase 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGG... | AGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGG... | pathogenic | 324,617 |
Evaluate this variant at chromosome 22, position 28699909, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTC... | CCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTC... | pathogenic | 324,618 |
Evaluate if the mutation on chromosome 22 at position 28699925 in CHEK2 (checkpoint kinase 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAG... | TATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAG... | pathogenic | 324,623 |
Clinical classification of chromosome 22, position 28699925, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | TATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAG... | TATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAG... | pathogenic | 324,624 |
Chromosome 22, position 28699925, 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'] | TATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAG... | TATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAG... | pathogenic | 324,625 |
Is the genetic change at chromosome 22, position 28699925, within gene CHEK2 (checkpoint kinase 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAG... | TATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAG... | pathogenic | 324,626 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 28699936, gene CHEK2 (checkpoint kinase 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | GAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAGCCTGGCCAACA... | GAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAGCCTGGCCAACA... | pathogenic | 324,629 |
Evaluate the clinical significance of the mutation at chromosome 22, position 28699945 in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAGCCTGGCCAACATGGTGAAAC... | TTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAGCCTGGCCAACATGGTGAAAC... | benign | 324,636 |
Variant chromosome 22, position 28699956, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Disease(s)? | benign | CCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAGCCTGGCCAACATGGTGAAACCCTATCTTTAC... | CCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAGCCTGGCCAACATGGTGAAACCCTATCTTTAC... | benign | 324,641 |
Does the variant on chromosome 22 at location 28703486 affecting gene CHEK2 (checkpoint kinase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CTGGCCTCAAGGGATCCGCCCACCTCAGCCTCTCAAAGTCCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATG... | CTGGCCTCAAGGGATCCGCCCACCTCAGCCTCTCAAAGTCCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATG... | benign | 324,645 |
Variant at chromosome position 28703492, 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'] | TCAAGGGATCCGCCCACCTCAGCCTCTCAAAGTCCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCT... | TCAAGGGATCCGCCCACCTCAGCCTCTCAAAGTCCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCT... | pathogenic | 324,651 |
Evaluate if the mutation on chromosome 22 at position 28703497 in CHEK2 (checkpoint kinase 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGATCCGCCCACCTCAGCCTCTCAAAGTCCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCC... | GGATCCGCCCACCTCAGCCTCTCAAAGTCCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCC... | pathogenic | 324,654 |
Gene CHEK2 (checkpoint kinase 2) variant at chromosome 22, position 28703506—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast'] | CACCTCAGCCTCTCAAAGTCCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAA... | CACCTCAGCCTCTCAAAGTCCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAA... | pathogenic | 324,663 |
Chromosome 22, position 28703510, gene CHEK2 (checkpoint kinase 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bone_osteosarcoma', 'Colorectal_cancer', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome_2'] | TCAGCCTCTCAAAGTCCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGA... | TCAGCCTCTCAAAGTCCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGA... | pathogenic | 324,665 |
The chromosome 22, position 28703515 genetic variant in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer'] | CTCTCAAAGTCCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGC... | CTCTCAAAGTCCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGC... | pathogenic | 324,668 |
Does the variant impacting CHEK2 (checkpoint kinase 2) on chromosome 22, position 28703520, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAGTCCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGA... | AAAGTCCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGA... | pathogenic | 324,671 |
The chromosome 22, position 28703533 genetic variant in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAG... | TACAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAG... | pathogenic | 324,674 |
Clinically, how would you classify the variant at chromosome 22, position 28703535, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast'] | CAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGT... | CAGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGT... | pathogenic | 324,676 |
Variant on chromosome 22, at position 28703536, affecting CHEK2 (checkpoint kinase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTA... | AGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTA... | pathogenic | 324,677 |
The chromosome 22, position 28703536 genetic variant in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTA... | AGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTA... | pathogenic | 324,678 |
A mutation at chromosome position 28703536 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_cancer-predisposing_syndrome'] | AGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTA... | AGGTGTGAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTA... | pathogenic | 324,679 |
Chromosome 22, position 28703542, 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'] | GAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATT... | GAGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATT... | pathogenic | 324,681 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 28703543, gene CHEK2 (checkpoint kinase 2): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATTT... | AGCCACCACACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATTT... | pathogenic | 324,682 |
Regarding the variant found on chromosome 22 at position 28703552 in gene CHEK2 (checkpoint kinase 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATTTCAGAGTAGA... | ACCCAGCCTGTTGTCTATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATTTCAGAGTAGA... | pathogenic | 324,684 |
The mutation in gene CHEK2 (checkpoint kinase 2) at chromosome 22, position 28703567—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATTTCAGAGTAGAGCTGTCCCTCAGTAT... | TATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATTTCAGAGTAGAGCTGTCCCTCAGTAT... | pathogenic | 324,691 |
Variant in gene CHEK2 (checkpoint kinase 2), located at chromosome 22 position 28703568: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATTTCAGAGTAGAGCTGTCCCTCAGTATC... | ATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATTTCAGAGTAGAGCTGTCCCTCAGTATC... | benign | 324,693 |
Evaluate if the mutation on chromosome 22 at position 28703568 in CHEK2 (checkpoint kinase 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATTTCAGAGTAGAGCTGTCCCTCAGTATC... | ATACAGTCTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATTTCAGAGTAGAGCTGTCCCTCAGTATC... | pathogenic | 324,694 |
Regarding the variant at chromosome 22 and position 28703575, affecting gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATTTCAGAGTAGAGCTGTCCCTCAGTATCCATGGGG... | CTTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATTTCAGAGTAGAGCTGTCCCTCAGTATCCATGGGG... | benign | 324,696 |
Chromosome 22, position 28703576, gene CHEK2 (checkpoint kinase 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATTTCAGAGTAGAGCTGTCCCTCAGTATCCATGGGGA... | TTAATGATCACCCTGCATAGATACGATTTGCCAACCAGGAGCAAAGCATTCTGTGCCTGCCACAATAGCTGCTCCCAGAAACACTTAATATTTATGCAGGAGCAGATATCAAGACAGGCATCTTCCAGAAATGAGACAGGAAGTTATTCTGATTACACCAAATAACACAAGACATTATCGCCACTGAAATAAACTACCAAGACACTGAAAGATACTCAGGTGCCACCATGCAACCTGGTCCTGGATTGAAAGGACCCGCATAGAAAGTCCTACCCAGGTAGATATTTCAGAGTAGAGCTGTCCCTCAGTATCCATGGGGA... | benign | 324,698 |
Regarding the variant at chromosome 22 and position 28709989, affecting gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATTCTCCTGCCTCAGCCTCTCCAGTAGCTGGGACTACACGCACCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGA... | ATTCTCCTGCCTCAGCCTCTCCAGTAGCTGGGACTACACGCACCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGA... | benign | 324,702 |
Gene CHEK2 (checkpoint kinase 2) variant at chromosome position 28709996 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGCCTCAGCCTCTCCAGTAGCTGGGACTACACGCACCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGA... | TGCCTCAGCCTCTCCAGTAGCTGGGACTACACGCACCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGA... | benign | 324,705 |
Gene CHEK2 (checkpoint kinase 2) variant at chromosome position 28709998 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bone_osteosarcoma', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Carcinoma_of_pancreas', 'Endometrial_carcinoma', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_can... | CCTCAGCCTCTCCAGTAGCTGGGACTACACGCACCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGT... | CCTCAGCCTCTCCAGTAGCTGGGACTACACGCACCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGT... | pathogenic | 324,706 |
Variant on chromosome 22, at position 28710009, affecting CHEK2 (checkpoint kinase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast'] | CCAGTAGCTGGGACTACACGCACCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGTATCGCTTGGTC... | CCAGTAGCTGGGACTACACGCACCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGTATCGCTTGGTC... | pathogenic | 324,714 |
Does the variant impacting CHEK2 (checkpoint kinase 2) on chromosome 22, position 28710015, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCTGGGACTACACGCACCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGTATCGCTTGGTCCCAGGA... | GCTGGGACTACACGCACCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGTATCGCTTGGTCCCAGGA... | pathogenic | 324,717 |
Mutation found at chromosome 22 position 28710025, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Gastric_cancer'] | CACGCACCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGTATCGCTTGGTCCCAGGAGTTTGAGGCT... | CACGCACCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGTATCGCTTGGTCCCAGGAGTTTGAGGCT... | pathogenic | 324,719 |
For chromosome 22, position 28710028, gene CHEK2 (checkpoint kinase 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCACCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGTATCGCTTGGTCCCAGGAGTTTGAGGCTGCA... | GCACCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGTATCGCTTGGTCCCAGGAGTTTGAGGCTGCA... | pathogenic | 324,720 |
Regarding the variant found on chromosome 22 at position 28710033 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', 'Malignant_tumor_of_breast'] | CGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGTATCGCTTGGTCCCAGGAGTTTGAGGCTGCAGTGAG... | CGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGTATCGCTTGGTCCCAGGAGTTTGAGGCTGCAGTGAG... | pathogenic | 324,722 |
Mutation found at chromosome 22 position 28710066, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGTATCGCTTGGTCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTACACTGAAGCCTGGGTA... | TTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGTATCGCTTGGTCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTACACTGAAGCCTGGGTA... | benign | 324,731 |
Assess the variant on chromosome 22, position 28710078, impacting CHEK2 (checkpoint kinase 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGTATCGCTTGGTCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTACACTGAAGCCTGGGTAACAGAGACAGAC... | GGGATTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCACCGCATTTGTGTTTATCTTAAGGGTAGGTCTGATGCAACCCCACCCCAGAAAATTGGAGGGCTCCTCTCTCCCAGCAGGGTATGGTGTGGCACATGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGTATCGCTTGGTCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTACACTGAAGCCTGGGTAACAGAGACAGAC... | benign | 324,739 |
The chromosome 22, position 28711907 genetic variant in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome_2'] | ACCCACCTCGGCCTCCCAAAGTGCTAGGGTTACAGGCATCAGCCACCACACCTGGCCAATATTATCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTA... | ACCCACCTCGGCCTCCCAAAGTGCTAGGGTTACAGGCATCAGCCACCACACCTGGCCAATATTATCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTA... | pathogenic | 324,747 |
Clinically, how would you classify the variant at chromosome 22, position 28711911, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACCTCGGCCTCCCAAAGTGCTAGGGTTACAGGCATCAGCCACCACACCTGGCCAATATTATCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACA... | ACCTCGGCCTCCCAAAGTGCTAGGGTTACAGGCATCAGCCACCACACCTGGCCAATATTATCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACA... | pathogenic | 324,750 |
Variant at chromosome 22, position 28711924, gene CHEK2 (checkpoint kinase 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAGTGCTAGGGTTACAGGCATCAGCCACCACACCTGGCCAATATTATCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGC... | AAAGTGCTAGGGTTACAGGCATCAGCCACCACACCTGGCCAATATTATCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGC... | pathogenic | 324,754 |
Gene mutation in CHEK2 (checkpoint kinase 2) at chromosome 22, position 28711938—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACAGGCATCAGCCACCACACCTGGCCAATATTATCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACT... | ACAGGCATCAGCCACCACACCTGGCCAATATTATCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACT... | pathogenic | 324,757 |
Assess the variant on chromosome 22, position 28711940, impacting CHEK2 (checkpoint kinase 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_cancer_of_breast'] | AGGCATCAGCCACCACACCTGGCCAATATTATCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTA... | AGGCATCAGCCACCACACCTGGCCAATATTATCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTA... | pathogenic | 324,758 |
Determine whether the variant at chromosome 22, position 28711958, in gene CHEK2 (checkpoint kinase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast'] | CTGGCCAATATTATCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATA... | CTGGCCAATATTATCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATA... | pathogenic | 324,765 |
A genetic variant on chromosome 22, position 28711964, 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'] | AATATTATCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTG... | AATATTATCTTTATTATACTGAAAGGCTTTATACTCTTCTCATATTTTGAGATAGATAAATCTAAGTATGAGTCATATAATAATACTTACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAGCTCTACTTATACAAAGAAATCAAAGCCCAGGTCAATGACTTAAATACCTCACCTAAAATAACTTTG... | pathogenic | 324,766 |
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