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 |
|---|---|---|---|---|---|
Benign or pathogenic: chromosome 13, position 32319283, 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'] | GTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATG... | GTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATG... | pathogenic | 208,025 |
Is the variant located on chromosome 13 at position 32319284, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATGT... | TTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATGT... | pathogenic | 208,027 |
Does the chromosome 13 mutation at position 32319312 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'] | ACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATGTCGCAACATCATGCAGTGATTATTTGGAA... | ACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATGTCGCAACATCATGCAGTGATTATTTGGAA... | pathogenic | 208,037 |
Benign or pathogenic: chromosome 13, position 32319315, 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'] | CATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATGTCGCAACATCATGCAGTGATTATTTGGAAGAT... | CATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATGTCGCAACATCATGCAGTGATTATTTGGAAGAT... | pathogenic | 208,039 |
Evaluate this variant at chromosome 13, position 32319315, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATGTCGCAACATCATGCAGTGATTATTTGGAAGAT... | CATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATGTCGCAACATCATGCAGTGATTATTTGGAAGAT... | pathogenic | 208,040 |
Does the variant on chromosome 13 at location 32319321 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | ATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATGTCGCAACATCATGCAGTGATTATTTGGAAGATAGTGGT... | ATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATGTCGCAACATCATGCAGTGATTATTTGGAAGATAGTGGT... | pathogenic | 208,042 |
For chromosome 13, position 32319321, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATGTCGCAACATCATGCAGTGATTATTTGGAAGATAGTGGT... | ATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATGTCGCAACATCATGCAGTGATTATTTGGAAGATAGTGGT... | pathogenic | 208,043 |
Considering the genetic mutation at chromosome 13, position 32319327, 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'] | TCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATGTCGCAACATCATGCAGTGATTATTTGGAAGATAGTGGTGTTCTG... | TCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCCCATGTCGCAACATCATGCAGTGATTATTTGGAAGATAGTGGTGTTCTG... | pathogenic | 208,048 |
Mutation at chromosome 13, position 32319631, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AGATAGTGGTGTTCTGAATTATACAAAGTTTCCAAATATTGATAAATTGCATTAAACTATTTTAAAAATCTCATTCATTAATACCACCATGGATGTCAGAAAAGTCTTTTAAGATTGGGTAGAAATGAGCCACTGGAAATTCTAATTTTCATTTGAAAGTTCACATTTTGTCATTGACAACAAACTGTTTTCCTTGCAGCAACAAGATCACTTCATTGATTTGTGAGAAAATGTCTACCAAATTATTTAAGTTGAAATAACTTTGTCAGCTGTTCTTTCAAGTAAAAATGACTTTTCATTGAAAAAATTGCTTGTTCAGA... | AGATAGTGGTGTTCTGAATTATACAAAGTTTCCAAATATTGATAAATTGCATTAAACTATTTTAAAAATCTCATTCATTAATACCACCATGGATGTCAGAAAAGTCTTTTAAGATTGGGTAGAAATGAGCCACTGGAAATTCTAATTTTCATTTGAAAGTTCACATTTTGTCATTGACAACAAACTGTTTTCCTTGCAGCAACAAGATCACTTCATTGATTTGTGAGAAAATGTCTACCAAATTATTTAAGTTGAAATAACTTTGTCAGCTGTTCTTTCAAGTAAAAATGACTTTTCATTGAAAAAATTGCTTGTTCAGA... | benign | 208,058 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32323151—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AAAACTATAGGACCTTGCAGTAGTCTAGATATGGAGGATTCAAAAAAAGGAACAAATGACAGGGCAAAGCATATGCAGAACACAGTAGTAACAGTCATAGAAATGGATAAGGGAGTCATCCATTCTGCAAATACTTAGTGCTTACTTGTGTCTGGCAACCTGCTCGGCATTAAGGATACAAATATGAATAAGATGTCCTTTGACCTCTAAGTACTCAGTCTCGTAAGCACGTCTTGTAAGCACATCTTGGTTGCTTCCATAAAAATAAATACACTAGTGTGATATGTTATAAGAGCATGTACCAAGTGCATGAAAAGTGA... | AAAACTATAGGACCTTGCAGTAGTCTAGATATGGAGGATTCAAAAAAAGGAACAAATGACAGGGCAAAGCATATGCAGAACACAGTAGTAACAGTCATAGAAATGGATAAGGGAGTCATCCATTCTGCAAATACTTAGTGCTTACTTGTGTCTGGCAACCTGCTCGGCATTAAGGATACAAATATGAATAAGATGTCCTTTGACCTCTAAGTACTCAGTCTCGTAAGCACGTCTTGTAAGCACATCTTGGTTGCTTCCATAAAAATAAATACACTAGTGTGATATGTTATAAGAGCATGTACCAAGTGCATGAAAAGTGA... | benign | 208,081 |
Mutation at chromosome 13, position 32325054, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AAGTAGCTGTTGCATTTTGTATTCCCACCAGCAGTGAATGAGAGTTCTTGTTGCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTT... | AAGTAGCTGTTGCATTTTGTATTCCCACCAGCAGTGAATGAGAGTTCTTGTTGCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTT... | benign | 208,092 |
Variant at chromosome 13, position 32325080, 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'] | ACCAGCAGTGAATGAGAGTTCTTGTTGCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTC... | ACCAGCAGTGAATGAGAGTTCTTGTTGCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTC... | pathogenic | 208,098 |
Clinical significance of chromosome 13, position 32325099, 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', 'Hereditary_cancer-predisposing_syndrome'] | TCTTGTTGCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGG... | TCTTGTTGCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGG... | pathogenic | 208,103 |
Mutation found at chromosome 13 position 32325100, 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'] | CTTGTTGCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGT... | CTTGTTGCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGT... | pathogenic | 208,104 |
A mutation at chromosome position 32325106 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | GCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGAT... | GCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGAT... | pathogenic | 208,105 |
For chromosome 13, position 32325119, 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'] | CCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGT... | CCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGT... | pathogenic | 208,108 |
Determine if the mutation at chromosome 13, position 32325125 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'] | TTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCG... | TTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCG... | pathogenic | 208,110 |
Regarding the variant at chromosome 13 and position 32325126, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGC... | TTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGC... | pathogenic | 208,111 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32325127—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCT... | TGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCT... | pathogenic | 208,112 |
Classify the chromosome 13 variant at position 32325135 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'] | CAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGG... | CAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGG... | pathogenic | 208,113 |
For chromosome 13, position 32325144, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAA... | GAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAA... | pathogenic | 208,117 |
Is chromosome 13, position 32325147, 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'] | TTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTG... | TTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTG... | pathogenic | 208,118 |
A genetic variant at chromosome 13, position 32325149, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | CTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCT... | CTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCT... | pathogenic | 208,119 |
Classify the chromosome 13 variant at position 32325161 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC... | ACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC... | pathogenic | 208,124 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32325163—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT... | AAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT... | pathogenic | 208,125 |
Evaluate if the mutation on chromosome 13 at position 32325167 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC... | GTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC... | pathogenic | 208,126 |
A genetic variant on chromosome 13, position 32325168, 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'] | TGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC... | TGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC... | pathogenic | 208,127 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32325177—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCATGCCC... | ACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCATGCCC... | pathogenic | 208,129 |
A genetic alteration at chromosome 13, position 32325460, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CAAAGTGCTGGGATTACAGGCGTGAGCCATCATGCCCGGCCTGTTTTATTTTTTAAAGTCAATTTTCTTTCAAGAATTAGCTACTTTTTAGTATCTTTAATTAAAAATCTCATTAGAGAAGGAGGTTGGATATTTTGTTGAAGTGGGGTTTTTAAGTTACACATCCATTTGCTTTATTAGTGATTATGTCTAGTCCATGTTAACTTGAAAAATGAGACTATAATGAGACATTTTATTTAGGCTGCTACAAACAGTTTTAAATTTGGTCTTCACTTTATTTTAGTAACATTGATAGAGCTTATTTTTCCCAAAAGCTAAGT... | CAAAGTGCTGGGATTACAGGCGTGAGCCATCATGCCCGGCCTGTTTTATTTTTTAAAGTCAATTTTCTTTCAAGAATTAGCTACTTTTTAGTATCTTTAATTAAAAATCTCATTAGAGAAGGAGGTTGGATATTTTGTTGAAGTGGGGTTTTTAAGTTACACATCCATTTGCTTTATTAGTGATTATGTCTAGTCCATGTTAACTTGAAAAATGAGACTATAATGAGACATTTTATTTAGGCTGCTACAAACAGTTTTAAATTTGGTCTTCACTTTATTTTAGTAACATTGATAGAGCTTATTTTTCCCAAAAGCTAAGT... | benign | 208,138 |
Does the chromosome 13 mutation at position 32326092 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', 'Hereditary_cancer-predisposing_syndrome'] | TCATCCAGTCAATATTTCAGGAGTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGAT... | TCATCCAGTCAATATTTCAGGAGTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGAT... | pathogenic | 208,155 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32326101, 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', 'Hereditary_cancer-predisposing_syndrome'] | CAATATTTCAGGAGTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATG... | CAATATTTCAGGAGTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATG... | pathogenic | 208,157 |
The genetic variant at chromosome 13, position 32326103, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATATTTCAGGAGTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGT... | ATATTTCAGGAGTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGT... | pathogenic | 208,158 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32326106 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'] | TTTCAGGAGTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGG... | TTTCAGGAGTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGG... | pathogenic | 208,160 |
Considering the variant on chromosome 13, location 32326112, 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; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GAGTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGG... | GAGTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGG... | pathogenic | 208,162 |
A genetic alteration at chromosome 13, position 32326114, 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | GTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGT... | GTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGT... | pathogenic | 208,165 |
Is chromosome 13, position 32326124, 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_cancer-predisposing_syndrome'] | TACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGA... | TACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGA... | pathogenic | 208,170 |
Clinically, how would you classify the variant at chromosome 13, position 32326125, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGAC... | ACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGAC... | pathogenic | 208,171 |
Is the variant located on chromosome 13 at position 32326126, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACT... | CCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACT... | pathogenic | 208,172 |
Is the genetic variant on chromosome 13, position 32326135, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Rhabdomyosarcoma'] | TTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAA... | TTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAA... | pathogenic | 208,175 |
Mutation found at chromosome 13 position 32326137, 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'] | TGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATG... | TGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATG... | pathogenic | 208,176 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32326138, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | GTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGG... | GTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGG... | pathogenic | 208,177 |
Does the chromosome 13 mutation at position 32326140 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'] | AGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCA... | AGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCA... | pathogenic | 208,178 |
Determine if the mutation at chromosome 13, position 32326142 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'] | TTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATC... | TTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATC... | pathogenic | 208,179 |
Is the genetic mutation found on chromosome 13 at position 32326143, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCA... | TGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCA... | pathogenic | 208,180 |
Does the genetic variant at chromosome 13, position 32326143, 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,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCA... | TGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCA... | pathogenic | 208,181 |
Considering the genetic mutation at chromosome 13, position 32326143, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | 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'] | TGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCA... | TGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCA... | pathogenic | 208,182 |
The chromosome 13, position 32326143 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', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma', 'Pancreatic_canc... | TGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCA... | TGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCA... | pathogenic | 208,183 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32326144—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCAT... | GCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCAT... | pathogenic | 208,184 |
Evaluate this variant at chromosome 13, position 32326145, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATA... | CTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATA... | pathogenic | 208,186 |
Does the chromosome 13 mutation at position 32326146 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'] | TAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAA... | TAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAA... | pathogenic | 208,187 |
Is chromosome 13, position 32326153, 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'] | ACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAA... | ACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAA... | pathogenic | 208,194 |
Clinical classification of chromosome 13, position 32326238, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['BRCA2-related_cancer_predisposition', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTC... | AGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTC... | pathogenic | 208,204 |
The chromosome 13, position 32326243 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACT... | ACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACT... | pathogenic | 208,209 |
Is the genetic mutation found on chromosome 13 at position 32326249, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Fanconi_anemia', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAG... | AGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAG... | pathogenic | 208,211 |
Does the chromosome 13 mutation at position 32326253 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'] | GGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTG... | GGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTG... | pathogenic | 208,213 |
Is the genetic mutation found on chromosome 13 at position 32326253, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | GGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTG... | GGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTG... | pathogenic | 208,214 |
The genetic variant at chromosome 13, position 32326255, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGAC... | GCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGAC... | pathogenic | 208,216 |
Is the chromosome 13, position 32326258 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | AACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTG... | AACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTG... | pathogenic | 208,218 |
Located at chromosome 13 position 32326269, 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'] | TTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAG... | TTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAG... | pathogenic | 208,222 |
Considering the genetic mutation at chromosome 13, position 32326277, 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_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCT... | GGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCT... | pathogenic | 208,223 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32326281—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAA... | TCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTCTTTCAGGATATGCAAATGGTTGGGTATGGGTAAAAAGTAGACTGTAAAAGAATGGCATCATAAAAATTAAGTAAATTGTCACATAAATATATATATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAA... | pathogenic | 208,224 |
Regarding the variant at chromosome 13 and position 32326497, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACA... | ATTTCTTATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACA... | pathogenic | 208,247 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32326503—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATA... | TATGTACCCACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATA... | pathogenic | 208,251 |
Variant on chromosome 13, at position 32326512, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACAC... | ACAAAAATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACAC... | pathogenic | 208,253 |
Determine whether the variant at chromosome 13, position 32326517, 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', 'Familial_cancer_of_breast', 'Familial_pancreatic_carcinoma', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCG... | AATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCG... | pathogenic | 208,255 |
Is chromosome 13, position 32326517, 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'] | AATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCG... | AATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCG... | pathogenic | 208,256 |
A genetic variant at chromosome 13, position 32326518, 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', 'Hereditary_cancer-predisposing_syndrome'] | ATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGT... | ATTAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGT... | pathogenic | 208,257 |
For chromosome 13, position 32326520, 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'] | TAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTT... | TAAAAATGAAGAAATTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTT... | pathogenic | 208,259 |
Does the variant on chromosome 13 at location 32326534 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCA... | TTAAGTAAATTGTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCA... | pathogenic | 208,264 |
Variant chromosome 13, position 32326545, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | GTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTC... | GTGAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTC... | pathogenic | 208,265 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32326547, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTG... | GAAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTG... | pathogenic | 208,266 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32326548 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGT... | AAAGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGT... | pathogenic | 208,267 |
Considering the genetic mutation at chromosome 13, position 32326550, 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'] | AGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTG... | AGGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTG... | pathogenic | 208,268 |
Clinical significance of chromosome 13, position 32326551, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGC... | GGCCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGC... | pathogenic | 208,269 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32326553, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to 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', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'Medul... | CCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTC... | CCTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTC... | pathogenic | 208,270 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32326554—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCA... | CTTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCA... | pathogenic | 208,271 |
Variant at chromosome 13, position 32326555, 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', 'bilateral_breast_cancer'] | TTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAG... | TTCATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAG... | pathogenic | 208,272 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32326558, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCA... | ATACTATGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCA... | pathogenic | 208,273 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32326564 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'] | TGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTT... | TGGAGTTTGACTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTT... | pathogenic | 208,276 |
Is chromosome 13, position 32326574, 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGC... | CTTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGC... | pathogenic | 208,280 |
Evaluate if the mutation on chromosome 13 at position 32326575 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCC... | TTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCC... | pathogenic | 208,281 |
Is the genetic mutation found on chromosome 13 at position 32326575, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCC... | TTGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCC... | pathogenic | 208,282 |
Is the genetic mutation found on chromosome 13 at position 32326576, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | TGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCT... | TGATCTTGAAAAGTAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCT... | pathogenic | 208,283 |
Is chromosome 13, position 32326589, 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', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_prostate', 'Medulloblastoma', 'Pancreatic_c... | TAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCC... | TAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCC... | pathogenic | 208,287 |
Variant at chromosome 13, position 32326589, 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', 'Malignant_tumor_of_breast'] | TAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCC... | TAAGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCC... | pathogenic | 208,288 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32326591: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCA... | AGATCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCA... | pathogenic | 208,289 |
Variant at chromosome position 32326594, 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'] | TCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCT... | TCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCT... | pathogenic | 208,291 |
Is the genetic mutation found on chromosome 13 at position 32326594, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_neoplasm', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Medulloblastoma', 'Pancreatic_cancer,_susceptibility_to,_2', 'Wilms_tumor_1'] | TCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCT... | TCTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCT... | pathogenic | 208,292 |
Is chromosome 13, position 32326595, 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'] | CTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCTC... | CTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCTC... | pathogenic | 208,293 |
Mutation found at chromosome 13 position 32326595, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCTC... | CTTGAAAGGTTTTTAGCACAAGTGATATTGTCAGATCTGGTACATTGGTAGGTTTTCAGTAAATGTCTTCCCTTACTCCTTTTTTCTCTTTCCTTCTGCTTTTGTTTAAAGCGACAAGATGTTGCTCTTTTCCCAGGCTGGAATACAGTGGCATGATCATAGCTCAAGCTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATATCACCACACCAGCGTTTTCTTTGTAGAGGCAGAGTCTCACTCTGTTGCTCAGGCAGGTGTTGAACTCCTGCCTCAAGCAATCCTCCCACCTC... | pathogenic | 208,294 |
Considering the genetic mutation at chromosome 13, position 32327292, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCTATAAAGATGAATCTGATTTTTATGCTAATATTTTGGCTAAGAGCCTGGTAGAAGATCTTACATTTTTAAATAATCTTTTAGGTTGAGTCCTTTAATAGAATAGTTTTTACATTAGAAACATGTAAGTTGTTGTTCTTGTGATGTTGAATTGGCTGGTTTTCTGTATATTCTGTGATTTTTTAAGTAACAAAAATAACAGTGGTGAAAAGCAGTAAGTCAGTCCTTGAATTATCAATTTAAAATAAATTGTGTACTTTTCATCTTTGGAGAGAATATGATTTACTTTACAAATTTTTTTTTTGTTTTTTTTTTTTTTG... | TCTATAAAGATGAATCTGATTTTTATGCTAATATTTTGGCTAAGAGCCTGGTAGAAGATCTTACATTTTTAAATAATCTTTTAGGTTGAGTCCTTTAATAGAATAGTTTTTACATTAGAAACATGTAAGTTGTTGTTCTTGTGATGTTGAATTGGCTGGTTTTCTGTATATTCTGTGATTTTTTAAGTAACAAAAATAACAGTGGTGAAAAGCAGTAAGTCAGTCCTTGAATTATCAATTTAAAATAAATTGTGTACTTTTCATCTTTGGAGAGAATATGATTTACTTTACAAATTTTTTTTTTGTTTTTTTTTTTTTTG... | benign | 208,312 |
Clinically, how would you classify the variant at chromosome 13, position 32327768, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TTAGTAGAGACGGGGTTTCACCGTGTTAGCTAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAGACTGCTGGGATTACAGGCGTGAACCACTGTGCCCGGCCTACTTTACAAAATTTTTGAGTTTAAAATACACGGTTTCCAGCAGCTGAAATTTGTGAGTACATATGTGTTGGCATTTTAAACATCACTTGATGATTATTTAATGCTTCATGAGAGATTTACTTTTTAAAATGTAATATAAAATATCTAAAAGTAGTATTCCAACAATTTATATGAATGAGAATCTTCTTTTAAAAATAAG... | TTAGTAGAGACGGGGTTTCACCGTGTTAGCTAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAGACTGCTGGGATTACAGGCGTGAACCACTGTGCCCGGCCTACTTTACAAAATTTTTGAGTTTAAAATACACGGTTTCCAGCAGCTGAAATTTGTGAGTACATATGTGTTGGCATTTTAAACATCACTTGATGATTATTTAATGCTTCATGAGAGATTTACTTTTTAAAATGTAATATAAAATATCTAAAAGTAGTATTCCAACAATTTATATGAATGAGAATCTTCTTTTAAAAATAAG... | benign | 208,315 |
Benign or pathogenic: chromosome 13, position 32328875, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | benign | TTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAACTGCAATATTTATCCATTCATTAAACTGTAAACTCTTTGCAGTCTCACCACAGTTTCTCTTACTAGGATCT... | TTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAACTGCAATATTTATCCATTCATTAAACTGTAAACTCTTTGCAGTCTCACCACAGTTTCTCTTACTAGGATCT... | benign | 208,324 |
Variant on chromosome 13, at position 32329428, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GAGGGTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAA... | GAGGGTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAA... | benign | 208,327 |
Evaluate if the mutation on chromosome 13 at position 32329444 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTC... | GAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTC... | pathogenic | 208,334 |
Clinical significance of chromosome 13, position 32329467, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Gastric_cancer', 'Gliom... | CCTGGGTGACAGGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAAT... | CCTGGGTGACAGGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAAT... | pathogenic | 208,340 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32329471 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGTGACAGGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATG... | GGTGACAGGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATG... | pathogenic | 208,341 |
Is the genetic variant on chromosome 13, position 32329474, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GACAGGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACT... | GACAGGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACT... | pathogenic | 208,344 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32329478: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACTTAGT... | GGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACTTAGT... | pathogenic | 208,345 |
Located at chromosome 13 position 32329480, 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'] | GAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACTTAGTAT... | GAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACTTAGTAT... | pathogenic | 208,347 |
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