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 |
|---|---|---|---|---|---|
For chromosome 2, position 214767620, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast'] | TTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTGCCCCAATTATCTTATAACCTGTGATGAGAGATAAAAGAGATTAGACACATTTACTGAAACTAACAGCACCAAGGTATGGTACA... | TTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTGCCCCAATTATCTTATAACCTGTGATGAGAGATAAAAGAGATTAGACACATTTACTGAAACTAACAGCACCAAGGTATGGTACA... | pathogenic | 55,186 |
Evaluate if the mutation on chromosome 2 at position 214767623 in BARD1 (BRCA1 associated RING domain 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | AAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTGCCCCAATTATCTTATAACCTGTGATGAGAGATAAAAGAGATTAGACACATTTACTGAAACTAACAGCACCAAGGTATGGTACATTC... | AAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTGCCCCAATTATCTTATAACCTGTGATGAGAGATAAAAGAGATTAGACACATTTACTGAAACTAACAGCACCAAGGTATGGTACATTC... | pathogenic | 55,188 |
Regarding the variant at chromosome 2 and position 214767672, affecting gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTGCCCCAATTATCTTATAACCTGTGATGAGAGATAAAAGAGATTAGACACATTTACTGAAACTAACAGCACCAAGGTATGGTACATTCTTGCATTATTAATTTGGTTTTCAATTATGTTAAATAATTACCAATAAAA... | CACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTGCCCCAATTATCTTATAACCTGTGATGAGAGATAAAAGAGATTAGACACATTTACTGAAACTAACAGCACCAAGGTATGGTACATTCTTGCATTATTAATTTGGTTTTCAATTATGTTAAATAATTACCAATAAAA... | benign | 55,204 |
Variant in gene BARD1 (BRCA1 associated RING domain 1), located at chromosome 2 position 214767675: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTGCCCCAATTATCTTATAACCTGTGATGAGAGATAAAAGAGATTAGACACATTTACTGAAACTAACAGCACCAAGGTATGGTACATTCTTGCATTATTAATTTGGTTTTCAATTATGTTAAATAATTACCAATAAAAAAT... | CTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTGCCCCAATTATCTTATAACCTGTGATGAGAGATAAAAGAGATTAGACACATTTACTGAAACTAACAGCACCAAGGTATGGTACATTCTTGCATTATTAATTTGGTTTTCAATTATGTTAAATAATTACCAATAAAAAAT... | benign | 55,205 |
Evaluate the clinical significance of the mutation at chromosome 2, position 214769230 in gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TCCATGGTATATATGTAACACATTTTTTTTATCCGATCTGTCATTGATATTTCCCAATTATTTTTGATCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCC... | TCCATGGTATATATGTAACACATTTTTTTTATCCGATCTGTCATTGATATTTCCCAATTATTTTTGATCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCC... | pathogenic | 55,209 |
Mutation found at chromosome 2 position 214769251, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTTTTTTTATCCGATCTGTCATTGATATTTCCCAATTATTTTTGATCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGAC... | ATTTTTTTTATCCGATCTGTCATTGATATTTCCCAATTATTTTTGATCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGAC... | pathogenic | 55,217 |
Mutation found at chromosome 2 position 214769255, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast'] | TTTTTATCCGATCTGTCATTGATATTTCCCAATTATTTTTGATCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATA... | TTTTTATCCGATCTGTCATTGATATTTCCCAATTATTTTTGATCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATA... | pathogenic | 55,218 |
Variant chromosome 2, position 214769276, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast'] | ATATTTCCCAATTATTTTTGATCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCT... | ATATTTCCCAATTATTTTTGATCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCT... | pathogenic | 55,220 |
Is the chromosome 2, position 214769277 variant in BARD1 (BRCA1 associated RING domain 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TATTTCCCAATTATTTTTGATCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTG... | TATTTCCCAATTATTTTTGATCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTG... | pathogenic | 55,221 |
Clinical significance of chromosome 2, position 214769278, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTTCCCAATTATTTTTGATCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGC... | ATTTCCCAATTATTTTTGATCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGC... | pathogenic | 55,223 |
Evaluate the clinical significance of the mutation at chromosome 2, position 214769281 in gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_cancer_of_breast'] | TCCCAATTATTTTTGATCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATC... | TCCCAATTATTTTTGATCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATC... | pathogenic | 55,224 |
Is the genetic change at chromosome 2, position 214769297, within gene BARD1 (BRCA1 associated RING domain 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCA... | TCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCA... | pathogenic | 55,230 |
Is chromosome 2, position 214769297, gene BARD1 (BRCA1 associated RING domain 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast'] | TCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCA... | TCTGCAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCA... | pathogenic | 55,231 |
A genetic variant at chromosome 2, position 214769301, affecting gene BARD1 (BRCA1 associated RING domain 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCATTTT... | CAGTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCATTTT... | pathogenic | 55,234 |
Benign or pathogenic: chromosome 2, position 214769303, gene BARD1 (BRCA1 associated RING domain 1) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCATTTTGA... | GTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCATTTTGA... | pathogenic | 55,235 |
Variant in gene BARD1 (BRCA1 associated RING domain 1), located at chromosome 2 position 214769303: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | GTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCATTTTGA... | GTTGGCTGAATCCTCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCATTTTGA... | pathogenic | 55,236 |
Is the variant located on chromosome 2 at position 214769316, gene BARD1 (BRCA1 associated RING domain 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCATTTTGATACCCGGTGGTGT... | TCAAGTGTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCATTTTGATACCCGGTGGTGT... | benign | 55,239 |
Assess the variant on chromosome 2, position 214769322, impacting BARD1 (BRCA1 associated RING domain 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCATTTTGATACCCGGTGGTGTTCACCA... | GTAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCATTTTGATACCCGGTGGTGTTCACCA... | benign | 55,245 |
The mutation impacting BARD1 (BRCA1 associated RING domain 1) on chromosome 2 at position 214769323: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCATTTTGATACCCGGTGGTGTTCACCAA... | TAGAACCCAAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCATTTTGATACCCGGTGGTGTTCACCAA... | benign | 55,247 |
Chromosome 2, position 214769331, gene BARD1 (BRCA1 associated RING domain 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCATTTTGATACCCGGTGGTGTTCACCAATGCCTTAT... | AAGAATATGAAGGACCAACTGTATCATAAAAAGGGCATGAAGGCTGATTATGAGTGCAGAATGTGATGATCACATCTAATTTTAGTTGTGAAAGTGAAGAAAGCCATCAACTTGACTATTTTAAAGTCTGCTTTATCACACACCTTGATTCAAGAATATAGGTCCATTTTAAAAATAATTTTTACGTTGAACTACTTACACAGCATTTCTGGAGGCTCCATAGGAAAGTAACAGCTTGACTATATCCACATGCCCATTCTTGGCTGCATCGTGAAGTGGTGAGTCATTTTGATACCCGGTGGTGTTCACCAATGCCTTAT... | benign | 55,251 |
Variant in BARD1 (BRCA1 associated RING domain 1), chromosome 2, position 214780552—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAAGTAATCTTGAACGTATTAATAGAGAAAATTCACCAAGACAGGAGCATGCCATCATTTTATCCTGACTTAATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTC... | GAAGTAATCTTGAACGTATTAATAGAGAAAATTCACCAAGACAGGAGCATGCCATCATTTTATCCTGACTTAATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTC... | pathogenic | 55,258 |
The genetic variant at chromosome 2, position 214780563, affecting gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | GAACGTATTAATAGAGAAAATTCACCAAGACAGGAGCATGCCATCATTTTATCCTGACTTAATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGA... | GAACGTATTAATAGAGAAAATTCACCAAGACAGGAGCATGCCATCATTTTATCCTGACTTAATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGA... | pathogenic | 55,262 |
Mutation at chromosome 2, position 214780581, within BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATTCACCAAGACAGGAGCATGCCATCATTTTATCCTGACTTAATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTT... | AATTCACCAAGACAGGAGCATGCCATCATTTTATCCTGACTTAATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTT... | pathogenic | 55,268 |
Is the chromosome 2, position 214780589 variant in BARD1 (BRCA1 associated RING domain 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAGACAGGAGCATGCCATCATTTTATCCTGACTTAATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAA... | AAGACAGGAGCATGCCATCATTTTATCCTGACTTAATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAA... | pathogenic | 55,269 |
A genetic variant at chromosome 2, position 214780589, affecting gene BARD1 (BRCA1 associated RING domain 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast'] | AAGACAGGAGCATGCCATCATTTTATCCTGACTTAATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAA... | AAGACAGGAGCATGCCATCATTTTATCCTGACTTAATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAA... | pathogenic | 55,270 |
Does the chromosome 2 mutation at position 214780603 within gene BARD1 (BRCA1 associated RING domain 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCATCATTTTATCCTGACTTAATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAAT... | CCATCATTTTATCCTGACTTAATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAAT... | pathogenic | 55,275 |
Does the genetic variant at chromosome 2, position 214780607, impacting gene BARD1 (BRCA1 associated RING domain 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATTTTATCCTGACTTAATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAA... | CATTTTATCCTGACTTAATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAA... | pathogenic | 55,278 |
Variant chromosome 2, position 214780623, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGA... | AATATTCTATTACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGA... | pathogenic | 55,283 |
Chromosome 2, position 214780633, gene BARD1 (BRCA1 associated RING domain 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAA... | TACAGTTTCTTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAA... | pathogenic | 55,286 |
Classify the chromosome 2 variant at position 214780642 affecting gene BARD1 (BRCA1 associated RING domain 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAG... | TTCACATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAG... | pathogenic | 55,291 |
Does the chromosome 2 mutation at position 214780646 within gene BARD1 (BRCA1 associated RING domain 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAG... | CATGCCTAGACCAAGAGTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAG... | pathogenic | 55,292 |
Does the variant impacting BARD1 (BRCA1 associated RING domain 1) on chromosome 2, position 214780662, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTA... | GTAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTA... | pathogenic | 55,299 |
Gene BARD1 (BRCA1 associated RING domain 1) variant at chromosome 2, position 214780663—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTAC... | TAGGCAAACTATAGCCTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTAC... | pathogenic | 55,300 |
Is the genetic change at chromosome 2, position 214780678, within gene BARD1 (BRCA1 associated RING domain 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGC... | CTATGGGCCAGTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGC... | pathogenic | 55,307 |
Variant chromosome 2, position 214780688, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACA... | GTCACCCAATTTTGTACGTAAGTTTTATTAGTTTGCATATTGCCTGTGGCTACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACA... | pathogenic | 55,311 |
Determine whether the variant at chromosome 2, position 214780739, in gene BARD1 (BRCA1 associated RING domain 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['BARD1-related_cancer_predisposition', 'Hereditary_cancer-predisposing_syndrome'] | ACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGC... | ACTTTTGCACTAAGAAGGCAGAGCTGAACCGCTATGATAGAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGC... | pathogenic | 55,322 |
Gene BARD1 (BRCA1 associated RING domain 1) variant at chromosome 2, position 214780778—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATG... | GAGATTTCATGGCCTGCAAAGCTGAAAACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATG... | benign | 55,337 |
The mutation impacting BARD1 (BRCA1 associated RING domain 1) on chromosome 2 at position 214780804: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast'] | AACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGT... | AACATTTACTCTAACTGCACCTTTAAGAAAGAACTTACAAAACTCTGGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGT... | pathogenic | 55,345 |
Located at chromosome 2 position 214780850, the variant affecting gene BARD1 (BRCA1 associated RING domain 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCA... | GGCCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCA... | pathogenic | 55,364 |
Evaluate if the mutation on chromosome 2 at position 214780852 in BARD1 (BRCA1 associated RING domain 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAA... | CCTAGACCCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAA... | pathogenic | 55,366 |
The mutation in gene BARD1 (BRCA1 associated RING domain 1) at chromosome 2, position 214780859—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAA... | CCTAGGGATCCTCATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAA... | pathogenic | 55,368 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 214780871, gene BARD1 (BRCA1 associated RING domain 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGG... | CATTAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGG... | pathogenic | 55,373 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 214780874, gene BARD1 (BRCA1 associated RING domain 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATA... | TAATAAAGATAAATTATTCTTATGGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATA... | pathogenic | 55,374 |
Determine whether the variant at chromosome 2, position 214780897, in gene BARD1 (BRCA1 associated RING domain 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCT... | GGTTAGAAGAAAAAGTCGCCACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCT... | pathogenic | 55,376 |
Does the genetic variant at chromosome 2, position 214780917, impacting gene BARD1 (BRCA1 associated RING domain 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAAT... | ACCAATATAAGTAAATGCTTGCCTGATAGTCCAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAAT... | pathogenic | 55,382 |
For chromosome 2, position 214780948, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast'] | CAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGG... | CAAAAATTTCCCAGAAAGCAAAATATATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGG... | pathogenic | 55,393 |
Regarding the variant at chromosome 2 and position 214780974, affecting gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATA... | ATAAATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATA... | pathogenic | 55,402 |
Variant on chromosome 2, at position 214780978, affecting BARD1 (BRCA1 associated RING domain 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAA... | ATTACTATGTATTAGCCAGCAAAATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAA... | pathogenic | 55,404 |
Is the genetic variant on chromosome 2, position 214781000, gene BARD1 (BRCA1 associated RING domain 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAA... | AATGAACAAAAATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAA... | pathogenic | 55,409 |
Does the chromosome 2 mutation at position 214781011 within gene BARD1 (BRCA1 associated RING domain 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTG... | ATAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTG... | pathogenic | 55,413 |
Gene mutation in BARD1 (BRCA1 associated RING domain 1) at chromosome 2, position 214781012—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGC... | TAATCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGC... | pathogenic | 55,414 |
Variant in gene BARD1 (BRCA1 associated RING domain 1), located at chromosome 2 position 214781015: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAA... | TCATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAA... | pathogenic | 55,415 |
Clinical significance of chromosome 2, position 214781017, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast'] | ATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATA... | ATTACACTAGCTACTTATGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATA... | pathogenic | 55,416 |
Evaluate the clinical significance of the mutation at chromosome 2, position 214781034 in gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCC... | TGTCTATAACTTTGTTTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCC... | pathogenic | 55,421 |
Is the genetic mutation found on chromosome 2 at position 214781049, within the gene BARD1 (BRCA1 associated RING domain 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATC... | TTACAATAGCTTATATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATC... | pathogenic | 55,427 |
Is chromosome 2, position 214781063, gene BARD1 (BRCA1 associated RING domain 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast'] | ATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACT... | ATGTACATATAATATACATATATATAACAGAGATGACAAAAAATGTCTAATTTTGTTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACT... | pathogenic | 55,429 |
Assess the variant on chromosome 2, position 214781118, impacting BARD1 (BRCA1 associated RING domain 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTT... | TTAAGTCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTT... | pathogenic | 55,439 |
The mutation impacting BARD1 (BRCA1 associated RING domain 1) on chromosome 2 at position 214781123: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast'] | TCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATT... | TCAGGCTTTGCAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATT... | pathogenic | 55,440 |
Is the genetic change at chromosome 2, position 214781133, within gene BARD1 (BRCA1 associated RING domain 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTT... | CAAAAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTT... | pathogenic | 55,445 |
Is the chromosome 2, position 214781136 variant in BARD1 (BRCA1 associated RING domain 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTAT... | AAATCAAACTAAAACACAACCAGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTAT... | pathogenic | 55,447 |
Gene BARD1 (BRCA1 associated RING domain 1) variant at chromosome 2, position 214781157—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTT... | AGAGCCAAGTGCAAAAATTCAACATGTCCAAAGGATATGTGGTCATGTTGTAAGGTCCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTT... | pathogenic | 55,453 |
The chromosome 2, position 214781213 genetic variant in gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGA... | CCCTGCCTCACTGGTATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGA... | pathogenic | 55,467 |
Variant at chromosome position 214781227, chromosome 2, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['BARD1-related_disorder', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGAC... | TATCAGAAATAGAGTACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGAC... | pathogenic | 55,472 |
Classify the chromosome 2 variant at position 214781241 affecting gene BARD1 (BRCA1 associated RING domain 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTA... | TACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTA... | pathogenic | 55,476 |
A mutation at chromosome position 214781241 on chromosome 2 in gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTA... | TACAGTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTA... | pathogenic | 55,477 |
For chromosome 2, position 214781245, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['BARD1-related_cancer_predisposition', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | GTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCT... | GTCATCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCT... | pathogenic | 55,481 |
Classify the chromosome 2 variant at position 214781249 affecting gene BARD1 (BRCA1 associated RING domain 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAA... | TCCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAA... | pathogenic | 55,483 |
The chromosome 2, position 214781250 genetic variant in gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAG... | CCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAG... | pathogenic | 55,484 |
A genetic alteration at chromosome 2, position 214781250, in gene BARD1 (BRCA1 associated RING domain 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAG... | CCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAG... | pathogenic | 55,485 |
Does the chromosome 2 mutation at position 214781250 within gene BARD1 (BRCA1 associated RING domain 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Malignant_tumor_of_breast'] | CCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAG... | CCCTCAGTATCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAG... | pathogenic | 55,486 |
Evaluate this variant at chromosome 2, position 214781259, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAG... | TCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAG... | pathogenic | 55,490 |
Regarding the variant found on chromosome 2 at position 214781259 in gene BARD1 (BRCA1 associated RING domain 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAG... | TCTGTGGGGGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAG... | pathogenic | 55,492 |
Determine whether the variant at chromosome 2, position 214781267, in gene BARD1 (BRCA1 associated RING domain 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAA... | GGATTGGTTCCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAA... | pathogenic | 55,496 |
Is chromosome 2, position 214781276, gene BARD1 (BRCA1 associated RING domain 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast'] | CCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGC... | CCAGAATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGC... | pathogenic | 55,500 |
Evaluate the clinical significance of the mutation at chromosome 2, position 214781281 in gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTG... | ATCCCAGCAGATACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTG... | pathogenic | 55,502 |
Clinically, how would you classify the variant at chromosome 2, position 214781292, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCA... | TACCAAAATCCAGATTCCTCATATAAAATGATGTATTTGCAAATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCA... | pathogenic | 55,505 |
Is chromosome 2, position 214781333, gene BARD1 (BRCA1 associated RING domain 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATC... | AATAACCTACAGAGATCCTCCAGTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATC... | pathogenic | 55,513 |
Is the genetic change at chromosome 2, position 214781355, within gene BARD1 (BRCA1 associated RING domain 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTA... | GTATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTA... | pathogenic | 55,522 |
Variant on chromosome 2, at position 214781356, affecting BARD1 (BRCA1 associated RING domain 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTAC... | TATACTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTAC... | pathogenic | 55,523 |
Considering the variant on chromosome 2, location 214781360, involving gene BARD1 (BRCA1 associated RING domain 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCA... | CTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCA... | pathogenic | 55,524 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 214781360, gene BARD1 (BRCA1 associated RING domain 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCA... | CTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCA... | pathogenic | 55,525 |
Mutation found at chromosome 2 position 214781360, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast'] | CTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCA... | CTTTAAATCATCTCTAAATTACTTATAACACCTAATACAATATAAATGCTATGTAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCA... | pathogenic | 55,526 |
Is the genetic change at chromosome 2, position 214781413, within gene BARD1 (BRCA1 associated RING domain 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCATGTTCTTCTCAAATGTTTTATGTTGCCCACCAGCCTCATGTTTGTGGACCTCC... | TAGATAGTTGTTATACGATATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCATGTTCTTCTCAAATGTTTTATGTTGCCCACCAGCCTCATGTTTGTGGACCTCC... | pathogenic | 55,543 |
Located at chromosome 2 position 214781432, the variant affecting gene BARD1 (BRCA1 associated RING domain 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCATGTTCTTCTCAAATGTTTTATGTTGCCCACCAGCCTCATGTTTGTGGACCTCCAAGTGGTTCCTCCCAGGTG... | ATTTTTTAATTTGCATTTTTTTATTGCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCATGTTCTTCTCAAATGTTTTATGTTGCCCACCAGCCTCATGTTTGTGGACCTCCAAGTGGTTCCTCCCAGGTG... | pathogenic | 55,548 |
Does the variant on chromosome 2 at location 214781457 affecting gene BARD1 (BRCA1 associated RING domain 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCATGTTCTTCTCAAATGTTTTATGTTGCCCACCAGCCTCATGTTTGTGGACCTCCAAGTGGTTCCTCCCAGGTGTCCCAAAGTTCTCTACCCATCCAGA... | GCGTATTGTTATTGGCTTTTCTCCCAAATATTTTTGATTCGCAGTTGGTTGAACCCATAAACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCATGTTCTTCTCAAATGTTTTATGTTGCCCACCAGCCTCATGTTTGTGGACCTCCAAGTGGTTCCTCCCAGGTGTCCCAAAGTTCTCTACCCATCCAGA... | pathogenic | 55,553 |
The chromosome 2, position 214781516 genetic variant in gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCATGTTCTTCTCAAATGTTTTATGTTGCCCACCAGCCTCATGTTTGTGGACCTCCAAGTGGTTCCTCCCAGGTGTCCCAAAGTTCTCTACCCATCCAGAAGACCAAAGGATTTCCTGGGTGAATTGACTACGTACAGTCGCTGAGACTGCATAAAAGC... | AACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCATGTTCTTCTCAAATGTTTTATGTTGCCCACCAGCCTCATGTTTGTGGACCTCCAAGTGGTTCCTCCCAGGTGTCCCAAAGTTCTCTACCCATCCAGAAGACCAAAGGATTTCCTGGGTGAATTGACTACGTACAGTCGCTGAGACTGCATAAAAGC... | benign | 55,564 |
Is the genetic mutation found on chromosome 2 at position 214781516, within the gene BARD1 (BRCA1 associated RING domain 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCATGTTCTTCTCAAATGTTTTATGTTGCCCACCAGCCTCATGTTTGTGGACCTCCAAGTGGTTCCTCCCAGGTGTCCCAAAGTTCTCTACCCATCCAGAAGACCAAAGGATTTCCTGGGTGAATTGACTACGTACAGTCGCTGAGACTGCATAAAAGC... | AACATAGAATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCATGTTCTTCTCAAATGTTTTATGTTGCCCACCAGCCTCATGTTTGTGGACCTCCAAGTGGTTCCTCCCAGGTGTCCCAAAGTTCTCTACCCATCCAGAAGACCAAAGGATTTCCTGGGTGAATTGACTACGTACAGTCGCTGAGACTGCATAAAAGC... | benign | 55,565 |
Chromosome 2, position 214781524, gene BARD1 (BRCA1 associated RING domain 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCATGTTCTTCTCAAATGTTTTATGTTGCCCACCAGCCTCATGTTTGTGGACCTCCAAGTGGTTCCTCCCAGGTGTCCCAAAGTTCTCTACCCATCCAGAAGACCAAAGGATTTCCTGGGTGAATTGACTACGTACAGTCGCTGAGACTGCATAAAAGCTATCCTAA... | ATGCACAGATACACAGAGCTGACTGTATTCCTCATTAATCTGGAAGAAAAGCAAGGAAAACAAACCAGCAGCAGCTGGGATAAGCTCAGTTTATGCTATTCCCTTTCTCCACACAGAAATACAGGAATCTTTGGACCACACTCAATGTCTACTCCATGTTCTTCTCAAATGTTTTATGTTGCCCACCAGCCTCATGTTTGTGGACCTCCAAGTGGTTCCTCCCAGGTGTCCCAAAGTTCTCTACCCATCCAGAAGACCAAAGGATTTCCTGGGTGAATTGACTACGTACAGTCGCTGAGACTGCATAAAAGCTATCCTAA... | benign | 55,567 |
Evaluate the clinical significance of the mutation at chromosome 2, position 214792278 in gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AAAAATGTTATATTGTTATAAATTGTGTTCCTCCCCCACCAAAATTCACATGTTGAGGTCCTAACCCCCCAGTAACTTAGAATGTGACTTTACTTGGAAATAAGGTCATTGCAGATGTAACTAGCTAAAATGAAGCGATACTGGAGTAGGGTGGACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTT... | AAAAATGTTATATTGTTATAAATTGTGTTCCTCCCCCACCAAAATTCACATGTTGAGGTCCTAACCCCCCAGTAACTTAGAATGTGACTTTACTTGGAAATAAGGTCATTGCAGATGTAACTAGCTAAAATGAAGCGATACTGGAGTAGGGTGGACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTT... | benign | 55,570 |
Benign or pathogenic: chromosome 2, position 214792365, gene BARD1 (BRCA1 associated RING domain 1) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTTACTTGGAAATAAGGTCATTGCAGATGTAACTAGCTAAAATGAAGCGATACTGGAGTAGGGTGGACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGT... | CTTTACTTGGAAATAAGGTCATTGCAGATGTAACTAGCTAAAATGAAGCGATACTGGAGTAGGGTGGACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGT... | pathogenic | 55,600 |
Evaluate the clinical significance of the mutation at chromosome 2, position 214792365 in gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTTACTTGGAAATAAGGTCATTGCAGATGTAACTAGCTAAAATGAAGCGATACTGGAGTAGGGTGGACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGT... | CTTTACTTGGAAATAAGGTCATTGCAGATGTAACTAGCTAAAATGAAGCGATACTGGAGTAGGGTGGACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGT... | pathogenic | 55,601 |
The mutation impacting BARD1 (BRCA1 associated RING domain 1) on chromosome 2 at position 214792367: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTACTTGGAAATAAGGTCATTGCAGATGTAACTAGCTAAAATGAAGCGATACTGGAGTAGGGTGGACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTC... | TTACTTGGAAATAAGGTCATTGCAGATGTAACTAGCTAAAATGAAGCGATACTGGAGTAGGGTGGACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTC... | pathogenic | 55,603 |
Evaluate the clinical significance of the mutation at chromosome 2, position 214792387 in gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGCAGATGTAACTAGCTAAAATGAAGCGATACTGGAGTAGGGTGGACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACT... | TGCAGATGTAACTAGCTAAAATGAAGCGATACTGGAGTAGGGTGGACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACT... | pathogenic | 55,607 |
For chromosome 2, position 214792394, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTAACTAGCTAAAATGAAGCGATACTGGAGTAGGGTGGACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGC... | GTAACTAGCTAAAATGAAGCGATACTGGAGTAGGGTGGACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGC... | pathogenic | 55,611 |
Evaluate this variant at chromosome 2, position 214792427, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast'] | GGTGGACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCAT... | GGTGGACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCAT... | pathogenic | 55,624 |
Benign or pathogenic: chromosome 2, position 214792432, gene BARD1 (BRCA1 associated RING domain 1) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCA... | ACTCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCA... | pathogenic | 55,625 |
Chromosome 2, position 214792434, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCACA... | TCCCAACGCAATATGACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCACA... | pathogenic | 55,626 |
Benign or pathogenic: chromosome 2, position 214792449, gene BARD1 (BRCA1 associated RING domain 1) variant? Disease(s) if pathogenic? | benign | ACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCACAAATCCCAAAGTAGCA... | ACTCCTGTCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCACAAATCCCAAAGTAGCA... | benign | 55,632 |
Variant on chromosome 2, at position 214792456, affecting BARD1 (BRCA1 associated RING domain 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCACAAATCCCAAAGTAGCACTCCAAA... | TCCTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCACAAATCCCAAAGTAGCACTCCAAA... | benign | 55,634 |
Evaluate this variant at chromosome 2, position 214792458, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCACAAATCCCAAAGTAGCACTCCAAATT... | CTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCACAAATCCCAAAGTAGCACTCCAAATT... | benign | 55,638 |
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