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 |
|---|---|---|---|---|---|
The mutation in gene PALB2 (partner and localizer of BRCA2) at chromosome 16, position 23614011—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTATATAACATCACACAACTTTTAAATTCAATTCCACAGATCCTACTAGGCTAGGGAAAGATGCGGTCTTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGA... | ATTATATAACATCACACAACTTTTAAATTCAATTCCACAGATCCTACTAGGCTAGGGAAAGATGCGGTCTTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGA... | pathogenic | 248,886 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 23614018, gene PALB2 (partner and localizer of BRCA2): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AACATCACACAACTTTTAAATTCAATTCCACAGATCCTACTAGGCTAGGGAAAGATGCGGTCTTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGC... | AACATCACACAACTTTTAAATTCAATTCCACAGATCCTACTAGGCTAGGGAAAGATGCGGTCTTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGC... | pathogenic | 248,888 |
Clinically, how would you classify the variant at chromosome 16, position 23614030, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTTTTAAATTCAATTCCACAGATCCTACTAGGCTAGGGAAAGATGCGGTCTTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGCTCACTGCAACCT... | CTTTTAAATTCAATTCCACAGATCCTACTAGGCTAGGGAAAGATGCGGTCTTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGCTCACTGCAACCT... | pathogenic | 248,890 |
Does the genetic variant at chromosome 16, position 23614040, impacting gene PALB2 (partner and localizer of BRCA2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAATTCCACAGATCCTACTAGGCTAGGGAAAGATGCGGTCTTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTG... | CAATTCCACAGATCCTACTAGGCTAGGGAAAGATGCGGTCTTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTG... | pathogenic | 248,894 |
Variant at chromosome position 23614044, chromosome 16, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCACAGATCCTACTAGGCTAGGGAAAGATGCGGTCTTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTT... | TCCACAGATCCTACTAGGCTAGGGAAAGATGCGGTCTTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTT... | pathogenic | 248,896 |
Mutation at chromosome 16, position 23614061, within PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast_neoplasm', 'Familial_cancer_of_breast'] | GCTAGGGAAAGATGCGGTCTTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCCTGC... | GCTAGGGAAAGATGCGGTCTTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCCTGC... | pathogenic | 248,899 |
Does the variant on chromosome 16 at location 23614075 affecting gene PALB2 (partner and localizer of BRCA2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast'] | CGGTCTTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCCTGCCTCAGCCTCCTGAG... | CGGTCTTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCCTGCCTCAGCCTCCTGAG... | pathogenic | 248,904 |
Does the chromosome 16 mutation at position 23614080 within gene PALB2 (partner and localizer of BRCA2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCCTGCCTCAGCCTCCTGAGTAGCT... | TTTGTGTTCAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCCTGCCTCAGCCTCCTGAGTAGCT... | pathogenic | 248,905 |
A genetic variant on chromosome 16, position 23614088, affects the gene PALB2 (partner and localizer of BRCA2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'PALB2-related_disorder', 'Pan... | CAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAC... | CAGAGCCTCTGGATGCTGATCCTCTCACTGTAATCACCAGGCAAGTCAGTCTCTACACAAATGCTGAGCCTGCTGCCATTGTCTCTGCTCATGGCTTCAACAGTGAATACTCAAGTAGTTATTCATTACTCCTAGACAACTACTTTCCCACTGTAACTAGATTGTGAGTCAAGGCTTTTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAC... | pathogenic | 248,906 |
Is the chromosome 16, position 23621382 variant in PALB2 (partner and localizer of BRCA2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CCTGTGATCACACTTTTTTCTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGA... | CCTGTGATCACACTTTTTTCTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGA... | pathogenic | 248,926 |
Is chromosome 16, position 23621397, gene PALB2 (partner and localizer of BRCA2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTTCTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTT... | TTTTCTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTT... | pathogenic | 248,929 |
Is the genetic variant on chromosome 16, position 23621400, gene PALB2 (partner and localizer of BRCA2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTT... | TCTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTT... | pathogenic | 248,932 |
Regarding the variant found on chromosome 16 at position 23621402 in gene PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCT... | TTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCT... | pathogenic | 248,933 |
A genetic variant at chromosome 16, position 23621411, affecting gene PALB2 (partner and localizer of BRCA2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTGAGACAGAGTCTCACTCTGTCACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAA... | TTTGAGACAGAGTCTCACTCTGTCACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAA... | pathogenic | 248,936 |
Does the genetic variant at chromosome 16, position 23621426, impacting gene PALB2 (partner and localizer of BRCA2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_disorder', 'Pancreatic_cancer,_susceptibility_to,_3'] | CACTCTGTCACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGG... | CACTCTGTCACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGG... | pathogenic | 248,942 |
A genetic variant on chromosome 16, position 23621435, affects the gene PALB2 (partner and localizer of BRCA2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast'] | ACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAAC... | ACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAAC... | pathogenic | 248,943 |
Variant at chromosome 16, position 23621435, gene PALB2 (partner and localizer of BRCA2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | ACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAAC... | ACTCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAAC... | pathogenic | 248,944 |
Does the variant impacting PALB2 (partner and localizer of BRCA2) on chromosome 16, position 23621447, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATA... | GTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATA... | pathogenic | 248,946 |
Chromosome 16, position 23621448, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATAC... | TGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATAC... | pathogenic | 248,947 |
Does the variant on chromosome 16 at location 23621448 affecting gene PALB2 (partner and localizer of BRCA2) 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'] | TGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATAC... | TGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATAC... | pathogenic | 248,949 |
Gene mutation in PALB2 (partner and localizer of BRCA2) at chromosome 16, position 23621457—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGT... | GCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGT... | pathogenic | 248,951 |
Variant chromosome 16, position 23621457, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | GCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGT... | GCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGT... | pathogenic | 248,952 |
Regarding the variant at chromosome 16 and position 23621466, affecting gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGTGCCAGACAA... | GCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGTGCCAGACAA... | pathogenic | 248,955 |
Determine if the mutation at chromosome 16, position 23621466 in gene PALB2 (partner and localizer of BRCA2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast'] | GCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGTGCCAGACAA... | GCTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGTGCCAGACAA... | pathogenic | 248,956 |
Does the variant on chromosome 16 at location 23621467 affecting gene PALB2 (partner and localizer of BRCA2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGTGCCAGACAAT... | CTCACTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGTGCCAGACAAT... | pathogenic | 248,957 |
Is the genetic change at chromosome 16, position 23621471, within gene PALB2 (partner and localizer of BRCA2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGTGCCAGACAATATGG... | CTGCAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGTGCCAGACAATATGG... | pathogenic | 248,960 |
Variant in gene PALB2 (partner and localizer of BRCA2), located at chromosome 16 position 23621474: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGTGCCAGACAATATGGTAA... | CAACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGTGCCAGACAATATGGTAA... | pathogenic | 248,961 |
Does the variant impacting PALB2 (partner and localizer of BRCA2) on chromosome 16, position 23621475, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast'] | AACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGTGCCAGACAATATGGTAAG... | AACCTCTGCCTCCTAGGTTCCAGCGATTCTCCTGCCTTAGCCTCGCACCACCAGGCCTGGCTAATTTTTGTGTCTTTAGTAGAGACGAGGTATCTTTAGTAGAGATGGGGTATCTTTAGTAGAGACGCCACACTTATTTTTTGTATACTGAGTAACTTTGGACTGTATCCTAGTTACAGTGATATTAATATGTTGCAAAAACTTTGTATTCTGTTAGGTTCCTCTGACAAACACTGATGTTTTTTCTTTTTAAAAATATTTTTTAAAAAGGAATTTTAACATTTACTGAATACCTCCTATGTGCCAGACAATATGGTAAG... | pathogenic | 248,962 |
Evaluate if the mutation on chromosome 16 at position 23622982 in PALB2 (partner and localizer of BRCA2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CACGGTGGCTCACTCCTGTAATCCCTGCATTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAAT... | CACGGTGGCTCACTCCTGTAATCCCTGCATTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAAT... | pathogenic | 248,972 |
Located at chromosome 16 position 23622989, the variant affecting gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCTCACTCCTGTAATCCCTGCATTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTT... | GCTCACTCCTGTAATCCCTGCATTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTT... | pathogenic | 248,974 |
Is the genetic variant on chromosome 16, position 23622989, gene PALB2 (partner and localizer of BRCA2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast_cancer,_susceptibility_to', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | GCTCACTCCTGTAATCCCTGCATTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTT... | GCTCACTCCTGTAATCCCTGCATTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTT... | pathogenic | 248,975 |
The chromosome 16, position 23622998 genetic variant in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast'] | TGTAATCCCTGCATTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACT... | TGTAATCCCTGCATTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACT... | pathogenic | 248,979 |
A mutation at chromosome position 23623000 on chromosome 16 in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast_cancer,_susceptibility_to', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | TAATCCCTGCATTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCT... | TAATCCCTGCATTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCT... | pathogenic | 248,980 |
Regarding the variant found on chromosome 16 at position 23623001 in gene PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATCCCTGCATTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTC... | AATCCCTGCATTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTC... | pathogenic | 248,981 |
Clinical classification of chromosome 16, position 23623011, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATC... | TTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATC... | pathogenic | 248,986 |
Is the genetic variant on chromosome 16, position 23623014, gene PALB2 (partner and localizer of BRCA2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTC... | TGGGAGTCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTC... | pathogenic | 248,987 |
Is the chromosome 16, position 23623026 variant in PALB2 (partner and localizer of BRCA2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | GCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTG... | GCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTG... | pathogenic | 248,992 |
A genetic variant at chromosome 16, position 23623028, affecting gene PALB2 (partner and localizer of BRCA2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTA... | AGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTA... | pathogenic | 248,994 |
Evaluate this variant at chromosome 16, position 23623033, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATT... | GATCACTTGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATT... | pathogenic | 248,995 |
Does the variant impacting PALB2 (partner and localizer of BRCA2) on chromosome 16, position 23623040, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast'] | TGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTA... | TGAGGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTA... | pathogenic | 248,999 |
Is the variant located on chromosome 16 at position 23623043, gene PALB2 (partner and localizer of BRCA2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | GGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATAT... | GGCCAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATAT... | pathogenic | 249,000 |
Benign or pathogenic: chromosome 16, position 23623049, gene PALB2 (partner and localizer of BRCA2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATATCCTCAT... | GAGTTCAAGACCAACCTGGCCAACATGATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATATCCTCAT... | pathogenic | 249,002 |
Is the genetic mutation found on chromosome 16 at position 23623076, within the gene PALB2 (partner and localizer of BRCA2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATATCCTCATACTACAGATGAGGGAACTGAGGACCTA... | ATGAAACCCTATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATATCCTCATACTACAGATGAGGGAACTGAGGACCTA... | pathogenic | 249,012 |
A genetic variant at chromosome 16, position 23623086, affecting gene PALB2 (partner and localizer of BRCA2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | ATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATATCCTCATACTACAGATGAGGGAACTGAGGACCTAGAGGGAAAGC... | ATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATATCCTCATACTACAGATGAGGGAACTGAGGACCTAGAGGGAAAGC... | pathogenic | 249,015 |
Chromosome 16, position 23623088, gene PALB2 (partner and localizer of BRCA2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATATCCTCATACTACAGATGAGGGAACTGAGGACCTAGAGGGAAAGCTT... | CTCTACTAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATATCCTCATACTACAGATGAGGGAACTGAGGACCTAGAGGGAAAGCTT... | pathogenic | 249,018 |
Regarding the variant found on chromosome 16 at position 23623094 in gene PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast'] | TAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATATCCTCATACTACAGATGAGGGAACTGAGGACCTAGAGGGAAAGCTTACCAAA... | TAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATATCCTCATACTACAGATGAGGGAACTGAGGACCTAGAGGGAAAGCTTACCAAA... | pathogenic | 249,022 |
A genetic variant at chromosome 16, position 23623114, affecting gene PALB2 (partner and localizer of BRCA2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATATCCTCATACTACAGATGAGGGAACTGAGGACCTAGAGGGAAAGCTTACCAAATAACAATGTTGTTCATAATA... | TGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATATCCTCATACTACAGATGAGGGAACTGAGGACCTAGAGGGAAAGCTTACCAAATAACAATGTTGTTCATAATA... | pathogenic | 249,027 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 23623122, gene PALB2 (partner and localizer of BRCA2): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATATCCTCATACTACAGATGAGGGAACTGAGGACCTAGAGGGAAAGCTTACCAAATAACAATGTTGTTCATAATAGTAGTACC... | GTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATACCACTGTACTCCCACCTGGGTGATAGGAGGAGACTCTGTCTCAAAACACAACAAAAACAACAACAACAGCAACACAAAACCACAATCATGTTTACACATACTCTCTTATTTAATCTTCACAACAACCCTGTAAAATTAGAGGTATATCCTCATACTACAGATGAGGGAACTGAGGACCTAGAGGGAAAGCTTACCAAATAACAATGTTGTTCATAATAGTAGTACC... | pathogenic | 249,030 |
Is the chromosome 16, position 23624010 variant in PALB2 (partner and localizer of BRCA2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome'] | CTCAGAAATCTGTCTGCTTCTTCCCATCTCCACTAACATACCCCTAATTTAAGCAAACAATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGT... | CTCAGAAATCTGTCTGCTTCTTCCCATCTCCACTAACATACCCCTAATTTAAGCAAACAATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGT... | pathogenic | 249,056 |
Is the variant located on chromosome 16 at position 23624012, gene PALB2 (partner and localizer of BRCA2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | CAGAAATCTGTCTGCTTCTTCCCATCTCCACTAACATACCCCTAATTTAAGCAAACAATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTT... | CAGAAATCTGTCTGCTTCTTCCCATCTCCACTAACATACCCCTAATTTAAGCAAACAATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTT... | pathogenic | 249,057 |
The mutation impacting PALB2 (partner and localizer of BRCA2) on chromosome 16 at position 23624020: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTCTGCTTCTTCCCATCTCCACTAACATACCCCTAATTTAAGCAAACAATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAG... | TGTCTGCTTCTTCCCATCTCCACTAACATACCCCTAATTTAAGCAAACAATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAG... | pathogenic | 249,059 |
Gene mutation in PALB2 (partner and localizer of BRCA2) at chromosome 16, position 23624021—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTCTGCTTCTTCCCATCTCCACTAACATACCCCTAATTTAAGCAAACAATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGT... | GTCTGCTTCTTCCCATCTCCACTAACATACCCCTAATTTAAGCAAACAATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGT... | pathogenic | 249,060 |
Benign or pathogenic: chromosome 16, position 23624024, gene PALB2 (partner and localizer of BRCA2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | TGCTTCTTCCCATCTCCACTAACATACCCCTAATTTAAGCAAACAATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAG... | TGCTTCTTCCCATCTCCACTAACATACCCCTAATTTAAGCAAACAATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAG... | pathogenic | 249,061 |
Chromosome 16, position 23624041, gene PALB2 (partner and localizer of BRCA2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast'] | ACTAACATACCCCTAATTTAAGCAAACAATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTG... | ACTAACATACCCCTAATTTAAGCAAACAATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTG... | pathogenic | 249,065 |
Mutation found at chromosome 16 position 23624054, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAATTTAAGCAAACAATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTGAAGCAATGGACAC... | TAATTTAAGCAAACAATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTGAAGCAATGGACAC... | pathogenic | 249,070 |
Chromosome 16, position 23624069, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTGAAGCAATGGACACAAGTGTGTGGAACGA... | ATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTGAAGCAATGGACACAAGTGTGTGGAACGA... | pathogenic | 249,073 |
The mutation impacting PALB2 (partner and localizer of BRCA2) on chromosome 16 at position 23624069: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast'] | ATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTGAAGCAATGGACACAAGTGTGTGGAACGA... | ATTATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTGAAGCAATGGACACAAGTGTGTGGAACGA... | pathogenic | 249,074 |
Variant at chromosome position 23624071, chromosome 16, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTGAAGCAATGGACACAAGTGTGTGGAACGAGG... | TATCATCTCTTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTGAAGCAATGGACACAAGTGTGTGGAACGAGG... | pathogenic | 249,075 |
Considering the variant on chromosome 16, location 23624080, involving gene PALB2 (partner and localizer of BRCA2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTGAAGCAATGGACACAAGTGTGTGGAACGAGGAAAGGGTCT... | TTGCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTGAAGCAATGGACACAAGTGTGTGGAACGAGGAAAGGGTCT... | pathogenic | 249,076 |
Chromosome 16, position 23624082, gene PALB2 (partner and localizer of BRCA2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTGAAGCAATGGACACAAGTGTGTGGAACGAGGAAAGGGTCTAG... | GCCTAGATTACTGCAACAGATCATGAATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTGAAGCAATGGACACAAGTGTGTGGAACGAGGAAAGGGTCTAG... | pathogenic | 249,078 |
Clinical significance of chromosome 16, position 23624107, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTGAAGCAATGGACACAAGTGTGTGGAACGAGGAAAGGGTCTAGGACCTTAAGGTATTTCTATATTTTT... | AATAAATAAGCCAAAGTTCCCTGCCCTCCATTTTTAGAAGATACATGAATAATAACAATGAAATGTAATTGAAAAATAAAAATAAAGTGTAATGAGTATATAATAGAGAAGATGCTGTAAGTTCAGTTTGCAACATTTTGAATTTAAGGTGTCCCCAATACGTCTAATAAATAGGCCTGCAGGTCTAGAGCTCAAGAAAGAGCTCAGAGGTAGAAATGTATGTTTGCAAGTAGTCAGCACCAAGATGGTCAGTGAAGCAATGGACACAAGTGTGTGGAACGAGGAAAGGGTCTAGGACCTTAAGGTATTTCTATATTTTT... | benign | 249,086 |
Determine if the mutation at chromosome 16, position 23626231 in gene PALB2 (partner and localizer of BRCA2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | ATTCTCACTGTACAAGGATAATTTTCATCATTTGAAGGCTCAGAAAACTCTTTTTATTAGCTGTAAATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACT... | ATTCTCACTGTACAAGGATAATTTTCATCATTTGAAGGCTCAGAAAACTCTTTTTATTAGCTGTAAATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACT... | pathogenic | 249,092 |
Is the genetic change at chromosome 16, position 23626255, within gene PALB2 (partner and localizer of BRCA2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast'] | TCATCATTTGAAGGCTCAGAAAACTCTTTTTATTAGCTGTAAATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTT... | TCATCATTTGAAGGCTCAGAAAACTCTTTTTATTAGCTGTAAATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTT... | pathogenic | 249,103 |
Is chromosome 16, position 23626255, gene PALB2 (partner and localizer of BRCA2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_disorder', 'Pancreatic_cancer,_susceptibility_to,_3'] | TCATCATTTGAAGGCTCAGAAAACTCTTTTTATTAGCTGTAAATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTT... | TCATCATTTGAAGGCTCAGAAAACTCTTTTTATTAGCTGTAAATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTT... | pathogenic | 249,104 |
The mutation impacting PALB2 (partner and localizer of BRCA2) on chromosome 16 at position 23626264: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAAGGCTCAGAAAACTCTTTTTATTAGCTGTAAATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTC... | GAAGGCTCAGAAAACTCTTTTTATTAGCTGTAAATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTC... | pathogenic | 249,107 |
Benign or pathogenic: chromosome 16, position 23626267, gene PALB2 (partner and localizer of BRCA2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | GGCTCAGAAAACTCTTTTTATTAGCTGTAAATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGA... | GGCTCAGAAAACTCTTTTTATTAGCTGTAAATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGA... | pathogenic | 249,110 |
Located at chromosome 16 position 23626271, the variant affecting gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGAAAACTCTTTTTATTAGCTGTAAATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTT... | CAGAAAACTCTTTTTATTAGCTGTAAATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTT... | pathogenic | 249,112 |
Classify the chromosome 16 variant at position 23626297 affecting gene PALB2 (partner and localizer of BRCA2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGC... | ATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGC... | pathogenic | 249,117 |
Is the chromosome 16, position 23626338 variant in PALB2 (partner and localizer of BRCA2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'PALB2-related_disorder'] | TGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGG... | TGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGG... | pathogenic | 249,128 |
Regarding the variant at chromosome 16 and position 23626340, affecting gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast'] | AGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGGTT... | AGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGGTT... | pathogenic | 249,129 |
The chromosome 16, position 23626348 genetic variant in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGGTTCAAGCGAT... | CCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGGTTCAAGCGAT... | pathogenic | 249,131 |
Considering the variant on chromosome 16, location 23626372, involving gene PALB2 (partner and localizer of BRCA2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_cancer_of_breast'] | AATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTA... | AATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTA... | pathogenic | 249,136 |
Gene mutation in PALB2 (partner and localizer of BRCA2) at chromosome 16, position 23626376—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG... | GGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG... | pathogenic | 249,137 |
Variant at chromosome 16, position 23626376, gene PALB2 (partner and localizer of BRCA2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG... | GGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG... | pathogenic | 249,138 |
Variant on chromosome 16, at position 23626386, affecting PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast'] | TGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGG... | TGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGG... | pathogenic | 249,143 |
A genetic variant on chromosome 16, position 23629202, affects the gene PALB2 (partner and localizer of BRCA2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAGCAGTATTTCCAAGAAAATTTGGAAATTTCCAAGAAAAATCATAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCG... | AAAGCAGTATTTCCAAGAAAATTTGGAAATTTCCAAGAAAAATCATAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCG... | pathogenic | 249,158 |
Is the chromosome 16, position 23629204 variant in PALB2 (partner and localizer of BRCA2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGCAGTATTTCCAAGAAAATTTGGAAATTTCCAAGAAAAATCATAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGAC... | AGCAGTATTTCCAAGAAAATTTGGAAATTTCCAAGAAAAATCATAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGAC... | pathogenic | 249,160 |
Variant at chromosome position 23629214, chromosome 16, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | CCAAGAAAATTTGGAAATTTCCAAGAAAAATCATAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGAC... | CCAAGAAAATTTGGAAATTTCCAAGAAAAATCATAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGAC... | pathogenic | 249,163 |
Chromosome 16, position 23629226, gene PALB2 (partner and localizer of BRCA2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast'] | GGAAATTTCCAAGAAAAATCATAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAA... | GGAAATTTCCAAGAAAAATCATAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAA... | pathogenic | 249,168 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 23629228, gene PALB2 (partner and localizer of BRCA2): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | AAATTTCCAAGAAAAATCATAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAA... | AAATTTCCAAGAAAAATCATAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAA... | pathogenic | 249,171 |
Is chromosome 16, position 23629237, gene PALB2 (partner and localizer of BRCA2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGAAAAATCATAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAA... | AGAAAAATCATAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAA... | pathogenic | 249,174 |
Variant in gene PALB2 (partner and localizer of BRCA2), located at chromosome 16 position 23629240: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAATCATAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAA... | AAAATCATAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAA... | pathogenic | 249,175 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 23629255, gene PALB2 (partner and localizer of BRCA2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAAATCATAATCA... | GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAAATCATAATCA... | pathogenic | 249,177 |
Is the genetic change at chromosome 16, position 23629261, within gene PALB2 (partner and localizer of BRCA2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast'] | CGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAAATCATAATCACAAAGG... | CGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAAATCATAATCACAAAGG... | pathogenic | 249,178 |
Clinical significance of chromosome 16, position 23629271, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAAATCATAATCACAAAGGCATTTTTAAG... | CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAAATCATAATCACAAAGGCATTTTTAAG... | pathogenic | 249,179 |
Does the genetic variant at chromosome 16, position 23629293, impacting gene PALB2 (partner and localizer of BRCA2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAAATCATAATCACAAAGGCATTTTTAAGAAAACAAGAAAGATTAAAATCA... | TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAAATCATAATCACAAAGGCATTTTTAAGAAAACAAGAAAGATTAAAATCA... | benign | 249,186 |
A genetic variant at chromosome 16, position 23629618, affecting gene PALB2 (partner and localizer of BRCA2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GCATGCAGCTCAGGAAGTCAGTACAAGAACAAAATAAGAACAATAAAAAAAAGTAGGAAGGAATGATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACA... | GCATGCAGCTCAGGAAGTCAGTACAAGAACAAAATAAGAACAATAAAAAAAAGTAGGAAGGAATGATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACA... | benign | 249,188 |
Variant at chromosome 16, position 23629640, gene PALB2 (partner and localizer of BRCA2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACAAGAACAAAATAAGAACAATAAAAAAAAGTAGGAAGGAATGATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAG... | ACAAGAACAAAATAAGAACAATAAAAAAAAGTAGGAAGGAATGATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAG... | pathogenic | 249,194 |
Chromosome 16, position 23629648, gene PALB2 (partner and localizer of BRCA2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast'] | AAAATAAGAACAATAAAAAAAAGTAGGAAGGAATGATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCT... | AAAATAAGAACAATAAAAAAAAGTAGGAAGGAATGATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCT... | pathogenic | 249,199 |
A genetic variant on chromosome 16, position 23629665, affects the gene PALB2 (partner and localizer of BRCA2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAAAGTAGGAAGGAATGATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTAT... | AAAAAGTAGGAAGGAATGATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTAT... | pathogenic | 249,202 |
Variant in PALB2 (partner and localizer of BRCA2), chromosome 16, position 23629672—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast_neoplasm', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | AGGAAGGAATGATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACA... | AGGAAGGAATGATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACA... | pathogenic | 249,205 |
Chromosome 16, position 23629674, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAAGGAATGATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACT... | GAAGGAATGATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACT... | pathogenic | 249,207 |
Clinical classification of chromosome 16, position 23629683, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | ATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGT... | ATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGT... | pathogenic | 249,209 |
Variant in PALB2 (partner and localizer of BRCA2), chromosome 16, position 23629683—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | ATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGT... | ATTTACAGTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGT... | pathogenic | 249,210 |
A genetic variant at chromosome 16, position 23629690, affecting gene PALB2 (partner and localizer of BRCA2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast'] | GTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCAT... | GTTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCAT... | pathogenic | 249,214 |
Variant chromosome 16, position 23629691, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast'] | TTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATG... | TTATCCTGTTTATTATAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATG... | pathogenic | 249,215 |
Is the chromosome 16, position 23629706 variant in PALB2 (partner and localizer of BRCA2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCA... | TAAAAACAGAAATAAATGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCA... | pathogenic | 249,217 |
Does the variant impacting PALB2 (partner and localizer of BRCA2) on chromosome 16, position 23629722, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Pancreatic_cancer,_susceptibility_to,_3'] | TGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGG... | TGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGG... | pathogenic | 249,220 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 23629722, gene PALB2 (partner and localizer of BRCA2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | TGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGG... | TGAACTAGAAAACCAAACAACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGG... | pathogenic | 249,221 |
A mutation at chromosome position 23629741 on chromosome 16 in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_disorder'] | ACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGT... | ACAACAACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGT... | pathogenic | 249,227 |
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