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 |
|---|---|---|---|---|---|
Regarding the variant found on chromosome 13 at position 32332465 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | AAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGA... | AAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGA... | pathogenic | 208,556 |
Is the genetic change at chromosome 13, position 32332465, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGA... | AAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGA... | pathogenic | 208,557 |
Clinical significance of chromosome 13, position 32332472, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACA... | TTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACA... | pathogenic | 208,559 |
A genetic alteration at chromosome 13, position 32332472, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACA... | TTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACA... | pathogenic | 208,560 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32332473, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACAC... | TATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACAC... | pathogenic | 208,561 |
Variant at chromosome position 32332473, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACAC... | TATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACAC... | pathogenic | 208,562 |
Benign or pathogenic: chromosome 13, position 32332485, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTT... | TTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTT... | pathogenic | 208,564 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32332498—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | ATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTAC... | ATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTAC... | pathogenic | 208,566 |
Considering the variant on chromosome 13, location 32332502, involving gene BRCA2 (BRCA2 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCT... | CCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCT... | pathogenic | 208,568 |
Located at chromosome 13 position 32332502, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCT... | CCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCT... | pathogenic | 208,569 |
Clinical significance of chromosome 13, position 32332526, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | GGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTG... | GGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTG... | pathogenic | 208,576 |
Is the variant located on chromosome 13 at position 32332526, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTG... | GGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTG... | pathogenic | 208,578 |
Considering the genetic mutation at chromosome 13, position 32332531, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | CATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCT... | CATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCT... | pathogenic | 208,580 |
Mutation at chromosome 13, position 32332532, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTA... | ATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTA... | pathogenic | 208,582 |
Is chromosome 13, position 32332533, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAG... | TTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAG... | pathogenic | 208,583 |
The chromosome 13, position 32332534 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | TGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGG... | TGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGG... | pathogenic | 208,585 |
Mutation at chromosome 13, position 32332537, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTG... | TAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTG... | pathogenic | 208,588 |
Determine if the mutation at chromosome 13, position 32332542 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | AAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGC... | AAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGC... | pathogenic | 208,590 |
Variant at chromosome 13, position 32332546, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGAT... | TAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGAT... | pathogenic | 208,593 |
Chromosome 13, position 32332549, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | GGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAAC... | GGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAAC... | pathogenic | 208,594 |
Assess the variant on chromosome 13, position 32332557, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | TGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCA... | TGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCA... | pathogenic | 208,599 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32332573: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCAT... | GGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCAT... | pathogenic | 208,602 |
Variant at chromosome 13, position 32332590, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTAC... | TCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTAC... | pathogenic | 208,610 |
Is chromosome 13, position 32332603, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCA... | ACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCA... | pathogenic | 208,618 |
Is the genetic change at chromosome 13, position 32332611, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGT... | TAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGT... | pathogenic | 208,619 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32332614, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Focal-onset_seizure', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposi... | GTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTT... | GTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTT... | pathogenic | 208,620 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32332621: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTA... | ATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTA... | pathogenic | 208,624 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32332630—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTA... | TACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTA... | pathogenic | 208,627 |
A genetic variant at chromosome 13, position 32332632, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome'] | CCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAA... | CCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAA... | pathogenic | 208,629 |
The genetic variant at chromosome 13, position 32332639, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Medulloblastoma', 'Pancreatic_cancer,_susceptibility_to,_2', 'Wilms_tumor_1'] | CAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAAT... | CAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAAT... | pathogenic | 208,632 |
Mutation found at chromosome 13 position 32332639, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAAT... | CAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAAT... | pathogenic | 208,633 |
Variant chromosome 13, position 32332640, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | AGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATT... | AGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATT... | pathogenic | 208,634 |
The chromosome 13, position 32332653 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | TGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTG... | TGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTG... | pathogenic | 208,640 |
Located at chromosome 13 position 32332663, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATT... | GATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATT... | pathogenic | 208,649 |
Determine whether the variant at chromosome 13, position 32332665, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTT... | TGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTT... | pathogenic | 208,650 |
Mutation found at chromosome 13 position 32332666, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTT... | GATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTT... | pathogenic | 208,652 |
Variant at chromosome 13, position 32332666, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTT... | GATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTT... | pathogenic | 208,653 |
A mutation at chromosome position 32332666 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTT... | GATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTT... | pathogenic | 208,654 |
A genetic variant at chromosome 13, position 32332667, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTC... | ATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTC... | pathogenic | 208,655 |
Chromosome 13, position 32332667, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTC... | ATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTC... | pathogenic | 208,656 |
Benign or pathogenic: chromosome 13, position 32332668, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCC... | TTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCC... | pathogenic | 208,658 |
Is the genetic change at chromosome 13, position 32332669, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCA... | TCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCA... | pathogenic | 208,660 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32332671 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAAT... | ATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAAT... | pathogenic | 208,662 |
Is the genetic change at chromosome 13, position 32332681, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAA... | TGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAA... | pathogenic | 208,667 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32332683: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGT... | GGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGT... | pathogenic | 208,668 |
A mutation at chromosome position 32332685 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | ATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCT... | ATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCT... | pathogenic | 208,670 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32332686, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTG... | TGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTG... | pathogenic | 208,671 |
Clinically, how would you classify the variant at chromosome 13, position 32332689, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAG... | AGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAG... | pathogenic | 208,672 |
Variant at chromosome position 32332694, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAA... | GATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAA... | pathogenic | 208,673 |
Is the genetic variant on chromosome 13, position 32332701, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Medulloblastoma', 'Pancreatic_cancer,_susceptibility_to,_2', 'Wilms_tumor_1'] | CAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGA... | CAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGA... | pathogenic | 208,676 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32332703—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATT... | AGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATT... | pathogenic | 208,677 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32332703 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATT... | AGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATT... | pathogenic | 208,678 |
Does the chromosome 13 mutation at position 32332705 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTA... | TTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTA... | pathogenic | 208,680 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32332710: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCT... | TTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCT... | pathogenic | 208,682 |
Clinical classification of chromosome 13, position 32332710, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCT... | TTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCT... | pathogenic | 208,683 |
Variant chromosome 13, position 32332710, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCT... | TTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCT... | pathogenic | 208,684 |
Considering the genetic mutation at chromosome 13, position 32332711, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTT... | TTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTT... | pathogenic | 208,685 |
A genetic variant at chromosome 13, position 32332715, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGT... | TCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGT... | pathogenic | 208,689 |
A genetic alteration at chromosome 13, position 32332724, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAG... | ATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAG... | pathogenic | 208,694 |
For chromosome 13, position 32332734, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | CCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACA... | CCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACA... | pathogenic | 208,698 |
A genetic variant at chromosome 13, position 32332739, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCA... | GATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCA... | pathogenic | 208,701 |
Evaluate this variant at chromosome 13, position 32332751, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGC... | CTAGTGGTGCAAGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGC... | pathogenic | 208,703 |
Chromosome 13, position 32332762, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTA... | AGATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTA... | pathogenic | 208,708 |
Benign or pathogenic: chromosome 13, position 32332764, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAG... | ATTTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAG... | pathogenic | 208,712 |
Is the chromosome 13, position 32332766 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTC... | TTCATCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTC... | pathogenic | 208,714 |
Does the genetic variant at chromosome 13, position 32332770, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCT... | TCACACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCT... | pathogenic | 208,716 |
A genetic variant on chromosome 13, position 32332774, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTT... | ACTACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTT... | pathogenic | 208,719 |
Determine whether the variant at chromosome 13, position 32332777, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGT... | ACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGT... | pathogenic | 208,720 |
Variant chromosome 13, position 32332777, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGT... | ACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGT... | pathogenic | 208,721 |
Clinically, how would you classify the variant at chromosome 13, position 32332777, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | ACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGT... | ACTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGT... | pathogenic | 208,722 |
Is the chromosome 13, position 32332778 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Familial_pancreatic_carcinoma', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', ... | CTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTT... | CTCAGGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTT... | pathogenic | 208,723 |
Variant at chromosome 13, position 32332782, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAAC... | GGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAAC... | pathogenic | 208,726 |
Is the variant located on chromosome 13 at position 32332782, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAAC... | GGATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAAC... | pathogenic | 208,727 |
Variant on chromosome 13, at position 32332784, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTA... | ATGACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTA... | pathogenic | 208,729 |
Is the chromosome 13, position 32332786 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | GACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACA... | GACACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACA... | pathogenic | 208,730 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32332788—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGG... | CACACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGG... | pathogenic | 208,731 |
Considering the genetic mutation at chromosome 13, position 32332791, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTT... | ACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTT... | pathogenic | 208,732 |
Variant on chromosome 13, at position 32332791, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTT... | ACAATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTT... | pathogenic | 208,733 |
Variant chromosome 13, position 32332794, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTT... | ATTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTT... | pathogenic | 208,735 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32332795, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTT... | TTTAAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTT... | pathogenic | 208,738 |
Assess the variant on chromosome 13, position 32332798, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTT... | AAAACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTT... | pathogenic | 208,739 |
A mutation at chromosome position 32332800 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGT... | AACTTACTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGT... | pathogenic | 208,740 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32332806 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | CTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGT... | CTAATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGT... | pathogenic | 208,745 |
Chromosome 13, position 32332809, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTT... | ATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTT... | pathogenic | 208,746 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32332809 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTT... | ATTGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTT... | pathogenic | 208,747 |
A genetic variant at chromosome 13, position 32332811, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGA... | TGCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGA... | pathogenic | 208,748 |
Assess the variant on chromosome 13, position 32332812, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | GCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGAT... | GCTTACTTCTGGAATTTTCCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGAT... | pathogenic | 208,749 |
Is the chromosome 13, position 32332830 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGG... | CCATTAAAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGG... | pathogenic | 208,754 |
Is chromosome 13, position 32332836, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTT... | AAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTT... | pathogenic | 208,759 |
Does the variant on chromosome 13 at location 32332836 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTT... | AAAATTTTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTT... | pathogenic | 208,760 |
Classify the chromosome 13 variant at position 32332842 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTG... | TTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTG... | pathogenic | 208,764 |
Located at chromosome 13 position 32332842, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTG... | TTTGGACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTG... | pathogenic | 208,766 |
Does the genetic variant at chromosome 13, position 32332846, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCAC... | GACCTAGGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCAC... | pathogenic | 208,770 |
Is the variant located on chromosome 13 at position 32332852, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGA... | GGTTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGA... | pathogenic | 208,774 |
Determine if the mutation at chromosome 13, position 32332854 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATC... | TTGATTGCAGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATC... | pathogenic | 208,776 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32332862—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTA... | AGATAACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTA... | pathogenic | 208,780 |
Regarding the variant found on chromosome 13 at position 32332866 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | AACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGC... | AACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGC... | pathogenic | 208,782 |
Mutation at chromosome 13, position 32332866, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGC... | AACTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGC... | pathogenic | 208,783 |
Classify the chromosome 13 variant at position 32332868 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAA... | CTGAAATCACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAA... | pathogenic | 208,784 |
Is chromosome 13, position 32332876, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCC... | ACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCC... | pathogenic | 208,790 |
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