question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32379845—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Ovarian_cancer'] | AATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGC... | AATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGC... | pathogenic | 213,362 |
Clinically, how would you classify the variant at chromosome 13, position 32379849, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGT... | TTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGT... | pathogenic | 213,363 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32379850—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTG... | TTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTG... | pathogenic | 213,364 |
The chromosome 13, position 32379855 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'] | CAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTC... | CAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTC... | pathogenic | 213,365 |
Is the genetic change at chromosome 13, position 32379855, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTC... | CAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTC... | pathogenic | 213,366 |
Variant chromosome 13, position 32379855, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTC... | CAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTC... | pathogenic | 213,367 |
Evaluate if the mutation on chromosome 13 at position 32379857 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTA... | AAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTA... | pathogenic | 213,368 |
Considering the variant on chromosome 13, location 32379857, involving gene BRCA2 (BRCA2 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTA... | AAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTA... | pathogenic | 213,369 |
Evaluate this variant at chromosome 13, position 32379858, 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'] | AACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTAT... | AACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTAT... | pathogenic | 213,370 |
Does the chromosome 13 mutation at position 32379861 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'] | TACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAA... | TACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAA... | pathogenic | 213,372 |
Is the chromosome 13, position 32379863 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', 'Hereditary_cancer-predisposing_syndrome'] | CTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATC... | CTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATC... | pathogenic | 213,373 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32379866—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATC... | GTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATC... | pathogenic | 213,375 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32379868, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCAT... | TTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCAT... | pathogenic | 213,377 |
The chromosome 13, position 32379870 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGA... | TTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGA... | pathogenic | 213,378 |
For chromosome 13, position 32379884, 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'] | TCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATT... | TCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATT... | pathogenic | 213,383 |
Determine whether the variant at chromosome 13, position 32379885, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Breast_carcinoma', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditar... | CATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTT... | CATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTT... | pathogenic | 213,384 |
A genetic variant at chromosome 13, position 32379885, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medullob... | CATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTT... | CATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTT... | pathogenic | 213,385 |
The chromosome 13, position 32379885 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTT... | CATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTT... | pathogenic | 213,386 |
Evaluate if the mutation on chromosome 13 at position 32379885 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'] | CATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTT... | CATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTT... | pathogenic | 213,387 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32379889, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATC... | CACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATC... | pathogenic | 213,390 |
Chromosome 13, position 32379892, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCAC... | TTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCAC... | pathogenic | 213,391 |
Is the genetic change at chromosome 13, position 32379893, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACA... | TGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACA... | pathogenic | 213,392 |
A genetic alteration at chromosome 13, position 32379893, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACA... | TGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACA... | pathogenic | 213,393 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32379893—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACA... | TGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACA... | pathogenic | 213,394 |
Clinical classification of chromosome 13, position 32379894, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAA... | GATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAA... | pathogenic | 213,395 |
Is the chromosome 13, position 32379895 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | ATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAA... | ATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAA... | pathogenic | 213,397 |
Variant at chromosome 13, position 32379898, 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_cancer-predisposing_syndrome'] | ACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATT... | ACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATT... | pathogenic | 213,400 |
Assess the variant on chromosome 13, position 32379902, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAAC... | AGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAAC... | pathogenic | 213,403 |
Is the genetic mutation found on chromosome 13 at position 32379908, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATT... | TCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATT... | pathogenic | 213,407 |
Considering the genetic mutation at chromosome 13, position 32379912, 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'] | GTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTT... | GTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTT... | pathogenic | 213,409 |
Chromosome 13, position 32379912, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTT... | GTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTT... | pathogenic | 213,410 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32379914—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTG... | GAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTG... | pathogenic | 213,415 |
A mutation at chromosome position 32380019 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'] | TGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTC... | TGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTC... | pathogenic | 213,434 |
Is the genetic change at chromosome 13, position 32380039, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ateleiotic_dwarfism', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGA... | CTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGA... | pathogenic | 213,441 |
Regarding the variant found on chromosome 13 at position 32380043 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAG... | GAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAG... | pathogenic | 213,445 |
Mutation at chromosome 13, position 32380063, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | AAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAG... | AAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAG... | pathogenic | 213,451 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32380071, 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'] | GAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATG... | GAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATG... | pathogenic | 213,457 |
Evaluate if the mutation on chromosome 13 at position 32380081 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'] | GCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAG... | GCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAG... | pathogenic | 213,461 |
Mutation at chromosome 13, position 32380082, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGA... | CTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGA... | pathogenic | 213,462 |
Is the chromosome 13, position 32380083 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGAT... | TGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGAT... | pathogenic | 213,463 |
Does the variant on chromosome 13 at location 32380084 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATT... | GCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATT... | pathogenic | 213,465 |
A genetic variant on chromosome 13, position 32380100, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTT... | AGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTT... | pathogenic | 213,473 |
Determine if the mutation at chromosome 13, position 32380106 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'] | TATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTT... | TATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTT... | pathogenic | 213,474 |
Benign or pathogenic: chromosome 13, position 32380107, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTG... | ATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTG... | pathogenic | 213,475 |
Variant at chromosome position 32380114, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCT... | TTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCT... | pathogenic | 213,478 |
Variant chromosome 13, position 32380121, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | AAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGA... | AAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGA... | pathogenic | 213,482 |
Evaluate if the mutation on chromosome 13 at position 32380123 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Mali... | AAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGA... | AAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGA... | pathogenic | 213,485 |
Considering the genetic mutation at chromosome 13, position 32380134, 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', 'Fanconi_anemia_complementation_group_D1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATC... | CTCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATC... | pathogenic | 213,488 |
Determine whether the variant at chromosome 13, position 32380135, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', '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_c... | TCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCC... | TCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCC... | pathogenic | 213,490 |
Variant at chromosome 13, position 32380135, 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'] | TCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCC... | TCTATCTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCC... | pathogenic | 213,491 |
Evaluate this variant at chromosome 13, position 32380140, 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'] | CTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCCATTTT... | CTTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCCATTTT... | pathogenic | 213,493 |
Considering the genetic mutation at chromosome 13, position 32380141, 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', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_prostate', 'Medulloblastoma', 'Pancreatic_c... | TTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCCATTTTT... | TTTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCCATTTTT... | pathogenic | 213,495 |
Does the variant on chromosome 13 at location 32380142 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCCATTTTTA... | TTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCCATTTTTA... | pathogenic | 213,496 |
Is the genetic variant on chromosome 13, position 32380142, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCCATTTTTA... | TTTATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCCATTTTTA... | pathogenic | 213,497 |
A genetic variant on chromosome 13, position 32380145, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCCATTTTTAAAA... | ATAATATTATTTGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCCATTTTTAAAA... | pathogenic | 213,499 |
Is the genetic variant on chromosome 13, position 32380156, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCCATTTTTAAAACAGTCCTGTTA... | TGTTGAAGCTTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCCATTTTTAAAACAGTCCTGTTA... | benign | 213,502 |
Classify the chromosome 13 variant at position 32380165 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCCATTTTTAAAACAGTCCTGTTAGAATTTGTT... | TTGTGCATTCTATGAATCATCATGAAGATAGCTTTAATTTCATCCACAAAATTTAACAATATTTTTTTGTCTGGACATAAGGGGGCAGAATAAGAGTTGGAGTAGGGCCTTGCCCAGCCACTCTGTAACTGGACAAGTGATGTATTTATTTCTTAGGACCTCATTTCCACCTTCTATCAAGGGAAAACCTAAGAGTAGGTTATCTTTAGGGTTCTAAGTGCCTATGAGTCTATGAGATTTGACTTTATTAAAGTTATCTTTGTAATTCTTTGAGGAGAACGTAGGCATCCATTTTTAAAACAGTCCTGTTAGAATTTGTT... | benign | 213,505 |
Determine if the mutation at chromosome 13, position 32382598 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TTTTTCCCCGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCCCACTGCAAGTTCTGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACATATACCCGCCACCGAGCCTGGCCAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCGTGTTAACCAGGATAGTCTAAATCTCCTGACCTCGTGATCTACCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGAGTCAAGCTTTTATTTTATTGAATATAT... | TTTTTCCCCGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCCCACTGCAAGTTCTGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACATATACCCGCCACCGAGCCTGGCCAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCGTGTTAACCAGGATAGTCTAAATCTCCTGACCTCGTGATCTACCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGAGTCAAGCTTTTATTTTATTGAATATAT... | benign | 213,524 |
Mutation found at chromosome 13 position 32386567, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CCTGTGCTTGTTATGGGGACTGACACAGATCAGCTCTTGGCCCCAAGGCAAGGTGTGTGGGAGAAGAAAAAGTGAGGAGGCCTAGATGTCAGAGGAGTCCGGCTAAACCACTGCAGAACTGCTGCCTAATTCACAGCAACCATGAGTAAAAATGCTGATGATCATCAGGTCAAGGATAGTCTGGAGCAGTTAAGATGTTACTTTACATGGGAGGTATCAATTAAAGATGATGAAATGCCTGATTTGGAAAACAGAGTCTTGGACCAGATTGGGTTTCTAGACTAAATACAGTGTGGGAATACACAATACACAACCTACTA... | CCTGTGCTTGTTATGGGGACTGACACAGATCAGCTCTTGGCCCCAAGGCAAGGTGTGTGGGAGAAGAAAAAGTGAGGAGGCCTAGATGTCAGAGGAGTCCGGCTAAACCACTGCAGAACTGCTGCCTAATTCACAGCAACCATGAGTAAAAATGCTGATGATCATCAGGTCAAGGATAGTCTGGAGCAGTTAAGATGTTACTTTACATGGGAGGTATCAATTAAAGATGATGAAATGCCTGATTTGGAAAACAGAGTCTTGGACCAGATTGGGTTTCTAGACTAAATACAGTGTGGGAATACACAATACACAACCTACTA... | benign | 213,550 |
Is the genetic variant on chromosome 13, position 32387052, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AGACTTACCTGGACAAGGTAGAGAACATTTGCAAGAAGTTTTCAAGTCCTTTCTGTCACAGAATGGAATGTCCAGAGATGGACTGTGAGGAAGAACGGGCCTTGCTGGAATGTGGAGGGAAGAATTATGAACAGGCCAAGGCCTGCTTTGAAAAGGATCTGGCAGTGGCTGCTGAAAACCCTGAACTCAACACTGGGTATGAAATCACCGCCTGTCGCCTGGATGGCTTTAAATTAGCAACGGGGGATCACAAGTCATTTTCTTTGCCTACCCTAAGGCAGGCTGTCAGGCTAAATGTAGATGATAGATATAGTAAGGTT... | AGACTTACCTGGACAAGGTAGAGAACATTTGCAAGAAGTTTTCAAGTCCTTTCTGTCACAGAATGGAATGTCCAGAGATGGACTGTGAGGAAGAACGGGCCTTGCTGGAATGTGGAGGGAAGAATTATGAACAGGCCAAGGCCTGCTTTGAAAAGGATCTGGCAGTGGCTGCTGAAAACCCTGAACTCAACACTGGGTATGAAATCACCGCCTGTCGCCTGGATGGCTTTAAATTAGCAACGGGGGATCACAAGTCATTTTCTTTGCCTACCCTAAGGCAGGCTGTCAGGCTAAATGTAGATGATAGATATAGTAAGGTT... | benign | 213,553 |
Assess the variant on chromosome 13, position 32387052, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AGACTTACCTGGACAAGGTAGAGAACATTTGCAAGAAGTTTTCAAGTCCTTTCTGTCACAGAATGGAATGTCCAGAGATGGACTGTGAGGAAGAACGGGCCTTGCTGGAATGTGGAGGGAAGAATTATGAACAGGCCAAGGCCTGCTTTGAAAAGGATCTGGCAGTGGCTGCTGAAAACCCTGAACTCAACACTGGGTATGAAATCACCGCCTGTCGCCTGGATGGCTTTAAATTAGCAACGGGGGATCACAAGTCATTTTCTTTGCCTACCCTAAGGCAGGCTGTCAGGCTAAATGTAGATGATAGATATAGTAAGGTT... | AGACTTACCTGGACAAGGTAGAGAACATTTGCAAGAAGTTTTCAAGTCCTTTCTGTCACAGAATGGAATGTCCAGAGATGGACTGTGAGGAAGAACGGGCCTTGCTGGAATGTGGAGGGAAGAATTATGAACAGGCCAAGGCCTGCTTTGAAAAGGATCTGGCAGTGGCTGCTGAAAACCCTGAACTCAACACTGGGTATGAAATCACCGCCTGTCGCCTGGATGGCTTTAAATTAGCAACGGGGGATCACAAGTCATTTTCTTTGCCTACCCTAAGGCAGGCTGTCAGGCTAAATGTAGATGATAGATATAGTAAGGTT... | benign | 213,554 |
Determine whether the variant at chromosome 13, position 32388121, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CTGCTGAGTTTTAGAACTCTGTGGGACAGGGTCCTTAGGCACTCAAATATTGACCACTTTCATATTTCATTTGATTTTCTGTTAACGTGCTAATCAAGGCTGAGGTGAGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGTCTGGCCAAAGTTGCGAAACCGCTTCTCTACTAAAAATACAAAAATTAGCCAGGGGTGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAAATGAGATCGCACCACTGCACTCCAGCCTGGGCCACAGA... | CTGCTGAGTTTTAGAACTCTGTGGGACAGGGTCCTTAGGCACTCAAATATTGACCACTTTCATATTTCATTTGATTTTCTGTTAACGTGCTAATCAAGGCTGAGGTGAGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGTCTGGCCAAAGTTGCGAAACCGCTTCTCTACTAAAAATACAAAAATTAGCCAGGGGTGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAAATGAGATCGCACCACTGCACTCCAGCCTGGGCCACAGA... | benign | 213,561 |
Is the chromosome 13, position 32388666 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | ACAAAATACTGGACTTACACTAAAATAAAGTGAGAAGGTCGGTGCCATGACCCAGTGTAATTCTTGACTCTCTATTTATCCAAGATTAATTTCTCCCCCCCTTAGTTACAGTGTGAGGGCTGGATATTTGAGTTTCTATTCATGATACAGTATGTATCCCTGGAAGATGTCTCTGGTTCTAGATCATTTTTCCCAGTTCAGTGAGTAACGCCGTGTATTTATTTGCTATAACAAAGAACCATAGACTGGGGGCTTAAACAACAGAAATTTGTTTTCTCACAGTTCTGGAGGCTGGAAATCCAAGATCAAAGTGTTGGCAG... | ACAAAATACTGGACTTACACTAAAATAAAGTGAGAAGGTCGGTGCCATGACCCAGTGTAATTCTTGACTCTCTATTTATCCAAGATTAATTTCTCCCCCCCTTAGTTACAGTGTGAGGGCTGGATATTTGAGTTTCTATTCATGATACAGTATGTATCCCTGGAAGATGTCTCTGGTTCTAGATCATTTTTCCCAGTTCAGTGAGTAACGCCGTGTATTTATTTGCTATAACAAAGAACCATAGACTGGGGGCTTAAACAACAGAAATTTGTTTTCTCACAGTTCTGGAGGCTGGAAATCCAAGATCAAAGTGTTGGCAG... | benign | 213,567 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32392589 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTTGTTTTGCATAGATGCTCTTTTGTTCTCCCCCTCTTGATGAATTTGTCCTATTCATTATTCAGCTCAAGTATTACCTCCCTAGTCAGATGCTTACAGTCTGGGTTAGATCCTCCTTCCTCCAGCTTTTGAAGCATTTTGTTGGTTTGGCTGTTTCAGCACTTGTCACATGGTCCATGATCCTACCTGTACACTTCTGAATAAGCCACCTACTAGCCTCAGTAATACAATGATCTCTTCAAGGACAGGGACTCTGTTTGGATTTCTACTTCCACTTCTGACATAATGGGTTGAAGCAGGGGTCAGTTGTTGAAAACTCC... | TTTGTTTTGCATAGATGCTCTTTTGTTCTCCCCCTCTTGATGAATTTGTCCTATTCATTATTCAGCTCAAGTATTACCTCCCTAGTCAGATGCTTACAGTCTGGGTTAGATCCTCCTTCCTCCAGCTTTTGAAGCATTTTGTTGGTTTGGCTGTTTCAGCACTTGTCACATGGTCCATGATCCTACCTGTACACTTCTGAATAAGCCACCTACTAGCCTCAGTAATACAATGATCTCTTCAAGGACAGGGACTCTGTTTGGATTTCTACTTCCACTTCTGACATAATGGGTTGAAGCAGGGGTCAGTTGTTGAAAACTCC... | benign | 213,587 |
Evaluate if the mutation on chromosome 13 at position 32393030 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CTATAAATTGATTTGAACTTATACTTTCAGGCCCTAAAGCTCTTAGGTTCTTTCTTATACTTCATGCTGACAAAACAAAAGCAAACTCAACATTTGAGAGTTGGGCTTAAAACAGGGACATCTGTATTTTTAATCTAATGCTTTGTTACTGTATTACAGAAACACTGTGATATATAATGAGTTAATTAAACGAGAACCTTTCTTAGGTTGGGAAAGATTTGTTTTGGGGAAAGCCTGTTTCCCTGGGAAACAGACTTACAGATTTCATGTAGGAGATTAGAAAATGCCCTTAGGAACAGCACTTGTGAGGAAGCAAATGC... | CTATAAATTGATTTGAACTTATACTTTCAGGCCCTAAAGCTCTTAGGTTCTTTCTTATACTTCATGCTGACAAAACAAAAGCAAACTCAACATTTGAGAGTTGGGCTTAAAACAGGGACATCTGTATTTTTAATCTAATGCTTTGTTACTGTATTACAGAAACACTGTGATATATAATGAGTTAATTAAACGAGAACCTTTCTTAGGTTGGGAAAGATTTGTTTTGGGGAAAGCCTGTTTCCCTGGGAAACAGACTTACAGATTTCATGTAGGAGATTAGAAAATGCCCTTAGGAACAGCACTTGTGAGGAAGCAAATGC... | benign | 213,588 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32393237, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTGGGAAAGATTTGTTTTGGGGAAAGCCTGTTTCCCTGGGAAACAGACTTACAGATTTCATGTAGGAGATTAGAAAATGCCCTTAGGAACAGCACTTGTGAGGAAGCAAATGCAGCAGGATTGGGCAGAAGAAGAAGAAAGGTTCAGTTAGTCCCACAGGGACTTCTGGAGCTGGGTGGCCCTTCAGAGTCTTGCTAGCCTGAGGCAAGAGCCAGTCCTTGCATACTGGCTCCTCCAGGGAGGGGCATAGCCTTAAGCAAGACAATGCCTTTCGACAGAGGGCAAGTCCAGGAGGGAACTCAGAGGTGAGTTGTCAATAG... | TTGGGAAAGATTTGTTTTGGGGAAAGCCTGTTTCCCTGGGAAACAGACTTACAGATTTCATGTAGGAGATTAGAAAATGCCCTTAGGAACAGCACTTGTGAGGAAGCAAATGCAGCAGGATTGGGCAGAAGAAGAAGAAAGGTTCAGTTAGTCCCACAGGGACTTCTGGAGCTGGGTGGCCCTTCAGAGTCTTGCTAGCCTGAGGCAAGAGCCAGTCCTTGCATACTGGCTCCTCCAGGGAGGGGCATAGCCTTAAGCAAGACAATGCCTTTCGACAGAGGGCAAGTCCAGGAGGGAACTCAGAGGTGAGTTGTCAATAG... | benign | 213,591 |
Variant chromosome 13, position 32394671, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | benign | TTGAACTAATTTCAGACCTTTAAACAAGTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAAT... | TTGAACTAATTTCAGACCTTTAAACAAGTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAAT... | benign | 213,609 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32394671, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | benign | TTGAACTAATTTCAGACCTTTAAACAAGTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAAT... | TTGAACTAATTTCAGACCTTTAAACAAGTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAAT... | benign | 213,610 |
Mutation at chromosome 13, position 32394685, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GACCTTTAAACAAGTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTT... | GACCTTTAAACAAGTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTT... | pathogenic | 213,616 |
Clinical classification of chromosome 13, position 32394687, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | CCTTTAAACAAGTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTG... | CCTTTAAACAAGTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTG... | pathogenic | 213,617 |
Mutation at chromosome 13, position 32394688, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTTTAAACAAGTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGA... | CTTTAAACAAGTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGA... | pathogenic | 213,620 |
Mutation at chromosome 13, position 32394693, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | AACAAGTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGA... | AACAAGTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGA... | pathogenic | 213,621 |
A genetic variant on chromosome 13, position 32394693, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AACAAGTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGA... | AACAAGTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGA... | pathogenic | 213,622 |
Is the genetic change at chromosome 13, position 32394698, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | GTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGAT... | GTTGCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGAT... | pathogenic | 213,624 |
Does the genetic variant at chromosome 13, position 32394701, 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', 'Hereditary_cancer-predisposing_syndrome'] | GCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAA... | GCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAA... | pathogenic | 213,625 |
A genetic variant on chromosome 13, position 32394701, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAA... | GCAAAAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAA... | pathogenic | 213,626 |
Is the variant located on chromosome 13 at position 32394705, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTAT... | AAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTAT... | pathogenic | 213,630 |
The genetic variant at chromosome 13, position 32394705, 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'] | AAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTAT... | AAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTAT... | pathogenic | 213,631 |
The genetic variant at chromosome 13, position 32394705, 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'] | AAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTAT... | AAATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTAT... | pathogenic | 213,632 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32394707—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | ATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTT... | ATCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTT... | pathogenic | 213,633 |
Benign or pathogenic: chromosome 13, position 32394708, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTT... | TCGTGGAATTTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTT... | pathogenic | 213,636 |
Is the genetic mutation found on chromosome 13 at position 32394717, 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'] | TTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTC... | TTCCAAATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTC... | pathogenic | 213,640 |
Is the genetic change at chromosome 13, position 32394722, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTC... | AATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTC... | pathogenic | 213,645 |
The chromosome 13, position 32394722 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'] | AATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTC... | AATATTCCTCACCTAGCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTC... | pathogenic | 213,646 |
The chromosome 13, position 32394737 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'] | GCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCT... | GCTTCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCT... | pathogenic | 213,654 |
Chromosome 13, position 32394740, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGAT... | TCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGAT... | pathogenic | 213,655 |
Is the variant located on chromosome 13 at position 32394740, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGAT... | TCCCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGAT... | pathogenic | 213,656 |
Is the genetic variant on chromosome 13, position 32394742, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGT... | CCCTAATGTTAACATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGT... | pathogenic | 213,657 |
Clinically, how would you classify the variant at chromosome 13, position 32394754, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACT... | CATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACT... | pathogenic | 213,663 |
Determine if the mutation at chromosome 13, position 32394755 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'] | ATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTA... | ATCTTGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTA... | pathogenic | 213,664 |
Benign or pathogenic: chromosome 13, position 32394759, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGAT... | TGCATAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGAT... | pathogenic | 213,666 |
Is the variant located on chromosome 13 at position 32394763, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAG... | TAACCGTAGTACAATTAGAATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAG... | pathogenic | 213,668 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32394781, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAG... | AATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAG... | pathogenic | 213,672 |
A genetic variant at chromosome 13, position 32394781, 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_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAG... | AATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAG... | pathogenic | 213,673 |
Classify the chromosome 13 variant at position 32394781 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | AATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAG... | AATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAG... | pathogenic | 213,674 |
Variant chromosome 13, position 32394782, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGA... | ATCAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGA... | pathogenic | 213,675 |
Clinical classification of chromosome 13, position 32394784, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACT... | CAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACT... | pathogenic | 213,677 |
Does the variant on chromosome 13 at location 32394784 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACT... | CAGAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACT... | pathogenic | 213,678 |
Clinical classification of chromosome 13, position 32394786, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTAC... | GAAAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTAC... | pathogenic | 213,679 |
Is the variant located on chromosome 13 at position 32394788, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | AAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCA... | AAGTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCA... | pathogenic | 213,682 |
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