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 |
|---|---|---|---|---|---|
Variant at chromosome position 32355018, 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', 'Familial_cancer_of_breast'] | AAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTC... | AAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTC... | pathogenic | 212,043 |
Variant at chromosome position 32355024, 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'] | TTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGA... | TTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGA... | pathogenic | 212,044 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32355035: 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', 'Malignant_tumor_of_breast'] | TAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAG... | TAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAG... | pathogenic | 212,047 |
The chromosome 13, position 32355036 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'] | AAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGT... | AAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGT... | pathogenic | 212,048 |
Variant at chromosome 13, position 32355038, 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', 'Familial_cancer_of_breast'] | AAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCA... | AAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCA... | pathogenic | 212,049 |
Clinically, how would you classify the variant at chromosome 13, position 32355038, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCA... | AAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCA... | pathogenic | 212,051 |
Clinical significance of chromosome 13, position 32355038, 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'] | AAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCA... | AAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCA... | pathogenic | 212,052 |
Clinical classification of chromosome 13, position 32355042, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCC... | AAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCC... | pathogenic | 212,057 |
Does the chromosome 13 mutation at position 32355055 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACT... | ATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACT... | pathogenic | 212,063 |
Chromosome 13, position 32355062, 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', 'likely other unspecified diseases'] | AATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCC... | AATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCC... | pathogenic | 212,066 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32355062: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCC... | AATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCC... | pathogenic | 212,067 |
Does the chromosome 13 mutation at position 32355062 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCC... | AATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCC... | pathogenic | 212,068 |
Assess the variant on chromosome 13, position 32355063, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | ATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCC... | ATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCC... | pathogenic | 212,070 |
Does the variant on chromosome 13 at location 32355063 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | ATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCC... | ATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCC... | pathogenic | 212,071 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32355068 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | AGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTT... | AGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTT... | pathogenic | 212,072 |
Evaluate this variant at chromosome 13, position 32355070, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | TTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTAC... | TTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTAC... | pathogenic | 212,073 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32355072: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCT... | TGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCT... | pathogenic | 212,074 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32355076 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | GACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCT... | GACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCT... | pathogenic | 212,076 |
A genetic variant on chromosome 13, position 32355077, 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'] | ACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTA... | ACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTA... | pathogenic | 212,078 |
Evaluate this variant at chromosome 13, position 32355079, 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'] | AGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACT... | AGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACT... | pathogenic | 212,079 |
A genetic alteration at chromosome 13, position 32355083, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | GGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTC... | GGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTC... | pathogenic | 212,080 |
The genetic variant at chromosome 13, position 32355086, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAAT... | TTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAAT... | pathogenic | 212,082 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32355087: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Malignant_tumor_of_breast'] | TATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATA... | TATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATA... | pathogenic | 212,083 |
Chromosome 13, position 32355088, 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'] | ATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATAC... | ATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATAC... | pathogenic | 212,084 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32355088, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATAC... | ATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATAC... | pathogenic | 212,085 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32355097 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAAT... | TGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAAT... | pathogenic | 212,091 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32355101—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTC... | CATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTC... | pathogenic | 212,093 |
The chromosome 13, position 32355104 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAAC... | TAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAAC... | pathogenic | 212,095 |
Chromosome 13, position 32355129, 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', 'Hereditary_cancer-predisposing_syndrome'] | GAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAA... | GAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAA... | pathogenic | 212,103 |
A genetic variant on chromosome 13, position 32355134, 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'] | AATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAA... | AATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAA... | pathogenic | 212,106 |
Mutation found at chromosome 13 position 32355136, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGA... | TCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGA... | pathogenic | 212,109 |
Clinical significance of chromosome 13, position 32355141, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'likely other unspecified diseases'] | CCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGAT... | CCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGAT... | pathogenic | 212,111 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32355144—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTAT... | GCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTAT... | pathogenic | 212,113 |
Variant on chromosome 13, at position 32355150, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATT... | ATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATT... | pathogenic | 212,115 |
Evaluate this variant at chromosome 13, position 32355160, 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'] | TCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCA... | TCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCA... | pathogenic | 212,119 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32355161: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | CTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAG... | CTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAG... | pathogenic | 212,120 |
A mutation at chromosome position 32355173 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'] | TTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTG... | TTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTG... | pathogenic | 212,125 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32355183: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATC... | AATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATC... | pathogenic | 212,126 |
Variant at chromosome 13, position 32355188, 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'] | ATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGA... | ATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGA... | pathogenic | 212,129 |
Does the variant on chromosome 13 at location 32355192 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAG... | TTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAG... | pathogenic | 212,131 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32355194—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAG... | CTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAG... | pathogenic | 212,133 |
Clinical significance of chromosome 13, position 32355201, 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'] | CCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAA... | CCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAA... | pathogenic | 212,135 |
Evaluate this variant at chromosome 13, position 32355206, 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'] | AGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCT... | AGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCT... | pathogenic | 212,137 |
Clinically, how would you classify the variant at chromosome 13, position 32355209, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | AGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGT... | AGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGT... | pathogenic | 212,138 |
Benign or pathogenic: chromosome 13, position 32355212, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_pancreatic_carcinoma', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCAT... | TGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCAT... | pathogenic | 212,140 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32355215—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGT... | TGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGT... | pathogenic | 212,142 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32355215 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGT... | TGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGT... | pathogenic | 212,143 |
A mutation at chromosome position 32355220 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'] | ATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACA... | ATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACA... | pathogenic | 212,145 |
Does the variant on chromosome 13 at location 32355227 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTT... | ATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTT... | pathogenic | 212,146 |
Variant at chromosome 13, position 32355229, 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'] | CTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCA... | CTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCA... | pathogenic | 212,148 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32355231, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATG... | TAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATG... | pathogenic | 212,149 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32355232 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGA... | AAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGA... | pathogenic | 212,150 |
Is the chromosome 13, position 32355233 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'] | AAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGAT... | AAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGAT... | pathogenic | 212,151 |
Considering the variant on chromosome 13, location 32355238, involving gene BRCA2 (BRCA2 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGC... | AACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGC... | pathogenic | 212,152 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32355239—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCT... | ACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCT... | pathogenic | 212,153 |
A genetic alteration at chromosome 13, position 32355250, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATT... | TAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATT... | benign | 212,156 |
Evaluate this variant at chromosome 13, position 32355254, 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', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Medulloblastoma', 'Pancreatic_cancer,_susceptibility_to,_2', 'Wilms_tumor_1'] | TAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTC... | TAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTC... | pathogenic | 212,159 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32355259—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma', 'Pancreatic_canc... | TCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTC... | TCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTC... | pathogenic | 212,161 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32355259, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTC... | TCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTC... | pathogenic | 212,162 |
Chromosome 13, position 32355263, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGAC... | CAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGAC... | pathogenic | 212,163 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32355265—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | GTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGACCT... | GTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGACCT... | pathogenic | 212,164 |
Clinically, how would you classify the variant at chromosome 13, position 32355265, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGACCT... | GTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGACCT... | pathogenic | 212,165 |
Does the variant on chromosome 13 at location 32355268 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', 'Malignant_tumor_of_breast'] | CATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGACCTTCT... | CATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGACCTTCT... | pathogenic | 212,168 |
A genetic variant at chromosome 13, position 32355276, 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'] | TCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGACCTTCTAATGTTCC... | TCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGACCTTCTAATGTTCC... | pathogenic | 212,172 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32355283—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGACCTTCTAATGTTCCCCTTGCT... | AAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGACCTTCTAATGTTCCCCTTGCT... | pathogenic | 212,174 |
Regarding the variant found on chromosome 13 at position 32355286 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'] | CCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGACCTTCTAATGTTCCCCTTGCTCTC... | CCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGACCTTCTAATGTTCCCCTTGCTCTC... | pathogenic | 212,176 |
Clinically, how would you classify the variant at chromosome 13, position 32355302, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGACCTTCTAATGTTCCCCTTGCTCTCCTTGCTCCAGGCACAC... | TGTCCCTCCTCTTTTCACTTATCTCTTTGAGTACTCTCCTGAACCCAGTCTAGTCAGTCCTTTCAGTAGAACTGGTCCCCCTGCTTACCTCCCTACTCCTCAATACACAGTGAATTCTCAACAAAGAAGCCGGGGGATCCTTTTAAACATAAGACAGATTATGTCATTTCTTTACTCAGAACTATTCCGTGGTGTGCCATCTCAGAGTAGAGACTAAAAGCCCTTGTCATGGTGTACAGATTCTTCATGATCTGGCTGCTTTGCTATTTTTCCAGTCTGACCTTCTAATGTTCCCCTTGCTCTCCTTGCTCCAGGCACAC... | benign | 212,178 |
Does the chromosome 13 mutation at position 32356422 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAGAGTTTCAAAGGTAGGCAAGATTTTTGGGCTAAATAAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCT... | TAAGAGTTTCAAAGGTAGGCAAGATTTTTGGGCTAAATAAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCT... | pathogenic | 212,188 |
A genetic variant on chromosome 13, position 32356433, 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'] | AAGGTAGGCAAGATTTTTGGGCTAAATAAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAA... | AAGGTAGGCAAGATTTTTGGGCTAAATAAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAA... | pathogenic | 212,196 |
Considering the variant on chromosome 13, location 32356437, involving gene BRCA2 (BRCA2 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TAGGCAAGATTTTTGGGCTAAATAAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGT... | TAGGCAAGATTTTTGGGCTAAATAAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGT... | pathogenic | 212,197 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32356446—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTGGGCTAAATAAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTT... | TTTTTGGGCTAAATAAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTT... | pathogenic | 212,198 |
Clinical classification of chromosome 13, position 32356455, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Fanconi_anemia_complementation_group_D1'] | TAAATAAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGG... | TAAATAAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGG... | pathogenic | 212,200 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32356455, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAAATAAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGG... | TAAATAAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGG... | pathogenic | 212,201 |
Regarding the variant found on chromosome 13 at position 32356458 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', 'Malignant_tumor_of_breast'] | ATAAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAA... | ATAAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAA... | pathogenic | 212,202 |
Mutation found at chromosome 13 position 32356460, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACC... | AAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACC... | pathogenic | 212,204 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32356460: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACC... | AAAAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACC... | pathogenic | 212,205 |
Is the chromosome 13, position 32356462 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', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCAT... | AAAGGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCAT... | pathogenic | 212,207 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32356465—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | GGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGT... | GGGCACTTTAAAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGT... | pathogenic | 212,210 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32356475—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAA... | AAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAA... | pathogenic | 212,213 |
Classify the chromosome 13 variant at position 32356475 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'] | AAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAA... | AAAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAA... | pathogenic | 212,214 |
Determine if the mutation at chromosome 13, position 32356476 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'] | AAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAAC... | AAAAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAAC... | pathogenic | 212,215 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32356478—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAG... | AAGGTATAAATAGGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAG... | pathogenic | 212,216 |
Mutation at chromosome 13, position 32356490, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAG... | GGTAGAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAG... | pathogenic | 212,220 |
Considering the genetic mutation at chromosome 13, position 32356494, 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'] | GAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATC... | GAAGAGAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATC... | pathogenic | 212,222 |
Variant on chromosome 13, at position 32356499, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCAT... | GAGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCAT... | pathogenic | 212,227 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32356500 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | AGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATG... | AGAAAAGGGAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATG... | pathogenic | 212,228 |
Is chromosome 13, position 32356508, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | GAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAAT... | GAGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAAT... | pathogenic | 212,232 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32356509, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATG... | AGCGAGGTGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATG... | pathogenic | 212,234 |
Assess the variant on chromosome 13, position 32356516, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCT... | TGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCT... | pathogenic | 212,239 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32356516 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCT... | TGGGATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCT... | pathogenic | 212,240 |
For chromosome 13, position 32356520, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAA... | ATAATTGAAAGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAA... | pathogenic | 212,243 |
Considering the variant on chromosome 13, location 32356529, involving gene BRCA2 (BRCA2 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | AGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCAT... | AGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCAT... | pathogenic | 212,249 |
For chromosome 13, position 32356529, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCAT... | AGAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCAT... | pathogenic | 212,250 |
Chromosome 13, position 32356530, 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATA... | GAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATA... | pathogenic | 212,251 |
Is chromosome 13, position 32356530, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATA... | GAGGGGATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATA... | pathogenic | 212,252 |
The chromosome 13, position 32356535 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'] | GATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCT... | GATCTCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCT... | pathogenic | 212,254 |
Is chromosome 13, position 32356539, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAAT... | TCCTGTGGAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAAT... | pathogenic | 212,257 |
Variant chromosome 13, position 32356546, 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'] | GAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATA... | GAGACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATA... | pathogenic | 212,261 |
Benign or pathogenic: chromosome 13, position 32356549, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGT... | ACTGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGT... | pathogenic | 212,262 |
Clinical classification of chromosome 13, position 32356551, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGT... | TGAGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGT... | pathogenic | 212,264 |
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