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 |
|---|---|---|---|---|---|
Considering the variant on chromosome 5, location 74685138, involving gene HEXB (hexosaminidase subunit beta), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GTTCAAATTCTTCTTGGCCTCTCTGTGTGGTATTCCTTCCTCCAGGATACGGTGCAGGGCCACTCTGGAACAAAAGTCTTGAGAGCCACTATCAGACAAGGTAGGTCAGAGAACCTCTTTATGGCTGGCTCCTACAGAAAGACACGGCAAGATTAGAGTAATATTTCTAGATTTTATGACTGGCTTTGGGGGCATAGGGGCTCTAGTTTCTTCTTTTTTTTTTTTTCTTTCTGAGACAGAGTCTTACTCTGTGGCACAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGAT... | GTTCAAATTCTTCTTGGCCTCTCTGTGTGGTATTCCTTCCTCCAGGATACGGTGCAGGGCCACTCTGGAACAAAAGTCTTGAGAGCCACTATCAGACAAGGTAGGTCAGAGAACCTCTTTATGGCTGGCTCCTACAGAAAGACACGGCAAGATTAGAGTAATATTTCTAGATTTTATGACTGGCTTTGGGGGCATAGGGGCTCTAGTTTCTTCTTTTTTTTTTTTTCTTTCTGAGACAGAGTCTTACTCTGTGGCACAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGAT... | benign | 93,761 |
Variant in gene HEXB (hexosaminidase subunit beta), located at chromosome 5 position 74685373: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Sandhoff_disease'] | ACAGAGTCTTACTCTGTGGCACAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCACCCAAGTAGCTGGGATTACGGGCGTGTGCCAGCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAACAGTGGCTCTAGTTTCTGTGACCCATTTTGAAAAAGAGGAATT... | ACAGAGTCTTACTCTGTGGCACAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCACCCAAGTAGCTGGGATTACGGGCGTGTGCCAGCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAACAGTGGCTCTAGTTTCTGTGACCCATTTTGAAAAAGAGGAATT... | pathogenic | 93,764 |
Variant at chromosome 5, position 74685429, gene HEXB (hexosaminidase subunit beta): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Sandhoff_disease'] | GCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCACCCAAGTAGCTGGGATTACGGGCGTGTGCCAGCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAACAGTGGCTCTAGTTTCTGTGACCCATTTTGAAAAAGAGGAATTCTAGTTTCTATGGCTTGCTCTGGGGAAGAAAGGGGAGCAGGAGAAAGAAAGGCAGG... | GCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCACCCAAGTAGCTGGGATTACGGGCGTGTGCCAGCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAACAGTGGCTCTAGTTTCTGTGACCCATTTTGAAAAAGAGGAATTCTAGTTTCTATGGCTTGCTCTGGGGAAGAAAGGGGAGCAGGAGAAAGAAAGGCAGG... | pathogenic | 93,767 |
Gene mutation in HEXB (hexosaminidase subunit beta) at chromosome 5, position 74685557—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Sandhoff_disease'] | GGCCAGGCTGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAACAGTGGCTCTAGTTTCTGTGACCCATTTTGAAAAAGAGGAATTCTAGTTTCTATGGCTTGCTCTGGGGAAGAAAGGGGAGCAGGAGAAAGAAAGGCAGGAGAAGGTCAGAAAGATCTTCTGACTCTCTTTTCTTCAGTTCCAAGTATTCAACATGCCAAAGTGCCACACTTTGGGGTCTCATTTTCTGAGGCCCAATAATCATTACATTTCTTTTCTTTCTTTTTTT... | GGCCAGGCTGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAACAGTGGCTCTAGTTTCTGTGACCCATTTTGAAAAAGAGGAATTCTAGTTTCTATGGCTTGCTCTGGGGAAGAAAGGGGAGCAGGAGAAAGAAAGGCAGGAGAAGGTCAGAAAGATCTTCTGACTCTCTTTTCTTCAGTTCCAAGTATTCAACATGCCAAAGTGCCACACTTTGGGGTCTCATTTTCTGAGGCCCAATAATCATTACATTTCTTTTCTTTCTTTTTTT... | pathogenic | 93,774 |
Variant at chromosome 5, position 74689368, gene HEXB (hexosaminidase subunit beta): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Sandhoff_disease'] | CAGTCTAGGCCCCAGATTGTTCAGCATCACATAGCCCCTGTCTCTGAAGAGCCCAGGTTGTATCACAAACCTTGCTTTGAAACAGTATGCTTTTTGCAGGCAGAGAGTTTGGCTGTTAGATGCATAGCTGCTTCTTTAGCTTCTAGAACAGCGTTCATCACATGCTAGTCACTCATTTTTAAAAATAAACAAATAGCTTCACTCCTTCATTTCCTGGAAGGCTAAACTAACCCACATACCTTTGACATACTGCCTCACAGCCCTTTGAGTTTTCTGTTAGAATTTTACTACCTAGGGTCAAGGTTCTAAGCCAGCTTCCA... | CAGTCTAGGCCCCAGATTGTTCAGCATCACATAGCCCCTGTCTCTGAAGAGCCCAGGTTGTATCACAAACCTTGCTTTGAAACAGTATGCTTTTTGCAGGCAGAGAGTTTGGCTGTTAGATGCATAGCTGCTTCTTTAGCTTCTAGAACAGCGTTCATCACATGCTAGTCACTCATTTTTAAAAATAAACAAATAGCTTCACTCCTTCATTTCCTGGAAGGCTAAACTAACCCACATACCTTTGACATACTGCCTCACAGCCCTTTGAGTTTTCTGTTAGAATTTTACTACCTAGGGTCAAGGTTCTAAGCCAGCTTCCA... | pathogenic | 93,782 |
The mutation impacting HEXB (hexosaminidase subunit beta) on chromosome 5 at position 74696710: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Sandhoff_disease'] | GTCATTAAAATAAAGGCTTGGGATTGATCATAGTCACTCACACCTGTAATCCCACCACTTTGGGAGGTTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGACTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAACTACTTGGGAGGGTGAGGCAGGAGAATTGCTTGAACCTGGGAGAGGGAGGTTGCAGTGAGCTGAGCTGGCACCACTGCATTCCAGCCTTGGTGACAGAGCAAAACTCCATCTCAAAAAACAAAAT... | GTCATTAAAATAAAGGCTTGGGATTGATCATAGTCACTCACACCTGTAATCCCACCACTTTGGGAGGTTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGACTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAACTACTTGGGAGGGTGAGGCAGGAGAATTGCTTGAACCTGGGAGAGGGAGGTTGCAGTGAGCTGAGCTGGCACCACTGCATTCCAGCCTTGGTGACAGAGCAAAACTCCATCTCAAAAAACAAAAT... | pathogenic | 93,797 |
Evaluate if the mutation on chromosome 5 at position 74713513 in HEXB (hexosaminidase subunit beta) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Sandhoff_disease'] | CAGGAAAAGAAACTACCATCAGAGTGAACAGGCAACCCACAATATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGAAATATCCAGAATCTACAATGAACACAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGTGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGACAAAAAACACATGAAAAAATGCTCATCATCACTGGCCGTCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAGGAAACAA... | CAGGAAAAGAAACTACCATCAGAGTGAACAGGCAACCCACAATATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGAAATATCCAGAATCTACAATGAACACAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGTGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGACAAAAAACACATGAAAAAATGCTCATCATCACTGGCCGTCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAGGAAACAA... | pathogenic | 93,808 |
Is chromosome 5, position 74713557, gene HEXB (hexosaminidase subunit beta) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Sandhoff_disease'] | TGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGAAATATCCAGAATCTACAATGAACACAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGTGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGACAAAAAACACATGAAAAAATGCTCATCATCACTGGCCGTCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACT... | TGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGAAATATCCAGAATCTACAATGAACACAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGTGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGACAAAAAACACATGAAAAAATGCTCATCATCACTGGCCGTCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACT... | pathogenic | 93,810 |
Gene mutation in HEXB (hexosaminidase subunit beta) at chromosome 5, position 74713609—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Sandhoff_disease'] | TACAATGAACACAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGTGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGACAAAAAACACATGAAAAAATGCTCATCATCACTGGCCGTCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCT... | TACAATGAACACAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGTGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGACAAAAAACACATGAAAAAATGCTCATCATCACTGGCCGTCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCT... | pathogenic | 93,815 |
Gene HEXB (hexosaminidase subunit beta) variant at chromosome position 74715459 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AGCTGTCAAATATCAAATGCAAGCACAATTGTTAACAATTTCCAGGATCAAATCTACGTTGTACATTTTAACTTGAATAAATATGGCTTTTACAGGGAAGCTATTCTTTGTCTCATGTTTATACACCAAATGATGTCCGTATGGTGATTGAATATGCCAGATTACGAGGAATTCGAGTCCTGCCAGAATTTGATACCCCTGGGCATACACTATCTTGGGGAAAAGGTAAGGAGTTGTATTTTATTTCATTTTATCTTATTTTTTATTTTTTGAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTAGTACAATC... | AGCTGTCAAATATCAAATGCAAGCACAATTGTTAACAATTTCCAGGATCAAATCTACGTTGTACATTTTAACTTGAATAAATATGGCTTTTACAGGGAAGCTATTCTTTGTCTCATGTTTATACACCAAATGATGTCCGTATGGTGATTGAATATGCCAGATTACGAGGAATTCGAGTCCTGCCAGAATTTGATACCCCTGGGCATACACTATCTTGGGGAAAAGGTAAGGAGTTGTATTTTATTTCATTTTATCTTATTTTTTATTTTTTGAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTAGTACAATC... | benign | 93,816 |
Evaluate if the mutation on chromosome 5 at position 74715572 in HEXB (hexosaminidase subunit beta) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Sandhoff_disease', 'Sandhoff_disease,_infantile_form'] | CATGTTTATACACCAAATGATGTCCGTATGGTGATTGAATATGCCAGATTACGAGGAATTCGAGTCCTGCCAGAATTTGATACCCCTGGGCATACACTATCTTGGGGAAAAGGTAAGGAGTTGTATTTTATTTCATTTTATCTTATTTTTTATTTTTTGAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTAGTACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGATCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGACTACAGGCATGCGCCACCATGCCCAGCTAATTTTTGTTTTTGT... | CATGTTTATACACCAAATGATGTCCGTATGGTGATTGAATATGCCAGATTACGAGGAATTCGAGTCCTGCCAGAATTTGATACCCCTGGGCATACACTATCTTGGGGAAAAGGTAAGGAGTTGTATTTTATTTCATTTTATCTTATTTTTTATTTTTTGAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTAGTACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGATCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGACTACAGGCATGCGCCACCATGCCCAGCTAATTTTTGTTTTTGT... | pathogenic | 93,819 |
Chromosome 5, position 74715628, gene HEXB (hexosaminidase subunit beta): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Sandhoff_disease'] | AATTCGAGTCCTGCCAGAATTTGATACCCCTGGGCATACACTATCTTGGGGAAAAGGTAAGGAGTTGTATTTTATTTCATTTTATCTTATTTTTTATTTTTTGAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTAGTACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGATCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGACTACAGGCATGCGCCACCATGCCCAGCTAATTTTTGTTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTG... | AATTCGAGTCCTGCCAGAATTTGATACCCCTGGGCATACACTATCTTGGGGAAAAGGTAAGGAGTTGTATTTTATTTCATTTTATCTTATTTTTTATTTTTTGAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTAGTACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGATCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGACTACAGGCATGCGCCACCATGCCCAGCTAATTTTTGTTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTG... | pathogenic | 93,822 |
Gene mutation in HEXB (hexosaminidase subunit beta) at chromosome 5, position 74716668—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Sandhoff_disease'] | CATTATAAACTAGGTGACCTTGGGCAAGTTACAATATCTCATCTTCAGTTTCTCCATCTCTAAAATGAGAATTAGTAGTAGCTATCATGTAATTTTTTTGAGAATTAAATAATGTAAAGCACATAGCACAGTACCAAGCATTTATAATTGCTCAATATTATTAGAGTAGACATGGGGAATAGTGAGAGGTAAATCTGGAAAAGCACATTAGCGGGCCTTTGGTGAGGAATGTGAACTTCATCAGGACACACTGGAAACCAGTGAAAATTTCTGAGCAGAGGAGTAACATGATGGGAACCACACTTTGGGAAAACCTTTGG... | CATTATAAACTAGGTGACCTTGGGCAAGTTACAATATCTCATCTTCAGTTTCTCCATCTCTAAAATGAGAATTAGTAGTAGCTATCATGTAATTTTTTTGAGAATTAAATAATGTAAAGCACATAGCACAGTACCAAGCATTTATAATTGCTCAATATTATTAGAGTAGACATGGGGAATAGTGAGAGGTAAATCTGGAAAAGCACATTAGCGGGCCTTTGGTGAGGAATGTGAACTTCATCAGGACACACTGGAAACCAGTGAAAATTTCTGAGCAGAGGAGTAACATGATGGGAACCACACTTTGGGAAAACCTTTGG... | pathogenic | 93,828 |
Located at chromosome 5 position 74718846, the variant affecting gene HEXB (hexosaminidase subunit beta)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Sandhoff_disease'] | GGAGGCAATACCCACTGCTTGCTTTAAATCAGTAACATGGTGACTCCAAGTATTTTCCAATAGCTGTTGAAATATAGGAAGGCAGTCATCTGTTCTAAAAACTCAGATTGGGCTGGGCATGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGCAGGTGGATCACCGGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATGAAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGCGGCTGAGGGAGAATCTCCTGGGAGATGGAGG... | GGAGGCAATACCCACTGCTTGCTTTAAATCAGTAACATGGTGACTCCAAGTATTTTCCAATAGCTGTTGAAATATAGGAAGGCAGTCATCTGTTCTAAAAACTCAGATTGGGCTGGGCATGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGCAGGTGGATCACCGGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATGAAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGCGGCTGAGGGAGAATCTCCTGGGAGATGGAGG... | pathogenic | 93,835 |
Is the variant located on chromosome 5 at position 74718856, gene HEXB (hexosaminidase subunit beta), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Sandhoff_disease'] | CCCACTGCTTGCTTTAAATCAGTAACATGGTGACTCCAAGTATTTTCCAATAGCTGTTGAAATATAGGAAGGCAGTCATCTGTTCTAAAAACTCAGATTGGGCTGGGCATGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGCAGGTGGATCACCGGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATGAAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGCGGCTGAGGGAGAATCTCCTGGGAGATGGAGGTTACAGTGAG... | CCCACTGCTTGCTTTAAATCAGTAACATGGTGACTCCAAGTATTTTCCAATAGCTGTTGAAATATAGGAAGGCAGTCATCTGTTCTAAAAACTCAGATTGGGCTGGGCATGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGCAGGTGGATCACCGGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATGAAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGCGGCTGAGGGAGAATCTCCTGGGAGATGGAGGTTACAGTGAG... | pathogenic | 93,836 |
Determine if the mutation at chromosome 5, position 74718861 in gene HEXB (hexosaminidase subunit beta) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Sandhoff_disease'] | TGCTTGCTTTAAATCAGTAACATGGTGACTCCAAGTATTTTCCAATAGCTGTTGAAATATAGGAAGGCAGTCATCTGTTCTAAAAACTCAGATTGGGCTGGGCATGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGCAGGTGGATCACCGGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATGAAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGCGGCTGAGGGAGAATCTCCTGGGAGATGGAGGTTACAGTGAGCTAAG... | TGCTTGCTTTAAATCAGTAACATGGTGACTCCAAGTATTTTCCAATAGCTGTTGAAATATAGGAAGGCAGTCATCTGTTCTAAAAACTCAGATTGGGCTGGGCATGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGCAGGTGGATCACCGGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATGAAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGCGGCTGAGGGAGAATCTCCTGGGAGATGGAGGTTACAGTGAGCTAAG... | pathogenic | 93,837 |
Gene HEXB (hexosaminidase subunit beta) variant at chromosome 5, position 74718897—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Sandhoff_disease'] | ATTTTCCAATAGCTGTTGAAATATAGGAAGGCAGTCATCTGTTCTAAAAACTCAGATTGGGCTGGGCATGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGCAGGTGGATCACCGGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATGAAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGCGGCTGAGGGAGAATCTCCTGGGAGATGGAGGTTACAGTGAGCTAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTG... | ATTTTCCAATAGCTGTTGAAATATAGGAAGGCAGTCATCTGTTCTAAAAACTCAGATTGGGCTGGGCATGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGCAGGTGGATCACCGGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATGAAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGCGGCTGAGGGAGAATCTCCTGGGAGATGGAGGTTACAGTGAGCTAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTG... | pathogenic | 93,838 |
Considering the variant on chromosome 5, location 74718957, involving gene HEXB (hexosaminidase subunit beta), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Sandhoff_disease'] | GCTGGGCATGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGCAGGTGGATCACCGGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATGAAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGCGGCTGAGGGAGAATCTCCTGGGAGATGGAGGTTACAGTGAGCTAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTGTCTCAATCAATCAATCAATCAATCCATCAATAAATATAAAACTCAGCTTGAAGC... | GCTGGGCATGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGCAGGTGGATCACCGGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATGAAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGCGGCTGAGGGAGAATCTCCTGGGAGATGGAGGTTACAGTGAGCTAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTGTCTCAATCAATCAATCAATCAATCCATCAATAAATATAAAACTCAGCTTGAAGC... | pathogenic | 93,841 |
Gene mutation in HEXB (hexosaminidase subunit beta) at chromosome 5, position 74720414—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Sandhoff_disease'] | GAGCATTGTGAAGACTGCATCTGATCAATATAAGAGACTTAATTATTTTTCTTGGGGCAACTGGGAATTTGCAAGTCTAACTACTAGTATTACCTTTCTAGTGTAGTTAGTGACCACTTTGGACCTCATAGTTCCAAGCTAGGTTTGGTAGAAATAAGACTAAAATGCAAGTCTCAGCTTTAGTTAACTGAACCTATGTGGTATCCATATATAAGCAAAAGTTAAATATTCAAACCTAAGGTTGATGAAACTTTTAAGTCCCTAAAATGAGTATCACATGGCACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGAT... | GAGCATTGTGAAGACTGCATCTGATCAATATAAGAGACTTAATTATTTTTCTTGGGGCAACTGGGAATTTGCAAGTCTAACTACTAGTATTACCTTTCTAGTGTAGTTAGTGACCACTTTGGACCTCATAGTTCCAAGCTAGGTTTGGTAGAAATAAGACTAAAATGCAAGTCTCAGCTTTAGTTAACTGAACCTATGTGGTATCCATATATAAGCAAAAGTTAAATATTCAAACCTAAGGTTGATGAAACTTTTAAGTCCCTAAAATGAGTATCACATGGCACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGAT... | pathogenic | 93,843 |
The chromosome 5, position 74720441 genetic variant in gene HEXB (hexosaminidase subunit beta): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Sandhoff_disease'] | ATATAAGAGACTTAATTATTTTTCTTGGGGCAACTGGGAATTTGCAAGTCTAACTACTAGTATTACCTTTCTAGTGTAGTTAGTGACCACTTTGGACCTCATAGTTCCAAGCTAGGTTTGGTAGAAATAAGACTAAAATGCAAGTCTCAGCTTTAGTTAACTGAACCTATGTGGTATCCATATATAAGCAAAAGTTAAATATTCAAACCTAAGGTTGATGAAACTTTTAAGTCCCTAAAATGAGTATCACATGGCACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATG... | ATATAAGAGACTTAATTATTTTTCTTGGGGCAACTGGGAATTTGCAAGTCTAACTACTAGTATTACCTTTCTAGTGTAGTTAGTGACCACTTTGGACCTCATAGTTCCAAGCTAGGTTTGGTAGAAATAAGACTAAAATGCAAGTCTCAGCTTTAGTTAACTGAACCTATGTGGTATCCATATATAAGCAAAAGTTAAATATTCAAACCTAAGGTTGATGAAACTTTTAAGTCCCTAAAATGAGTATCACATGGCACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATG... | pathogenic | 93,844 |
Does the genetic variant at chromosome 5, position 74720443, impacting gene HEXB (hexosaminidase subunit beta), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Sandhoff_disease'] | ATAAGAGACTTAATTATTTTTCTTGGGGCAACTGGGAATTTGCAAGTCTAACTACTAGTATTACCTTTCTAGTGTAGTTAGTGACCACTTTGGACCTCATAGTTCCAAGCTAGGTTTGGTAGAAATAAGACTAAAATGCAAGTCTCAGCTTTAGTTAACTGAACCTATGTGGTATCCATATATAAGCAAAAGTTAAATATTCAAACCTAAGGTTGATGAAACTTTTAAGTCCCTAAAATGAGTATCACATGGCACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATGTT... | ATAAGAGACTTAATTATTTTTCTTGGGGCAACTGGGAATTTGCAAGTCTAACTACTAGTATTACCTTTCTAGTGTAGTTAGTGACCACTTTGGACCTCATAGTTCCAAGCTAGGTTTGGTAGAAATAAGACTAAAATGCAAGTCTCAGCTTTAGTTAACTGAACCTATGTGGTATCCATATATAAGCAAAAGTTAAATATTCAAACCTAAGGTTGATGAAACTTTTAAGTCCCTAAAATGAGTATCACATGGCACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATGTT... | pathogenic | 93,845 |
For chromosome 5, position 74720648, gene HEXB (hexosaminidase subunit beta): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Sandhoff_disease'] | CCTAAGGTTGATGAAACTTTTAAGTCCCTAAAATGAGTATCACATGGCACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCCTAATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGC... | CCTAAGGTTGATGAAACTTTTAAGTCCCTAAAATGAGTATCACATGGCACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCCTAATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGC... | pathogenic | 93,850 |
Chromosome 5, position 74720691, gene HEXB (hexosaminidase subunit beta): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Sandhoff_disease'] | ATGGCACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCCTAATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGCTATGGACAAGATTGGAGGAAATACTATAAAGTGGAACCTCTTG... | ATGGCACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCCTAATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGCTATGGACAAGATTGGAGGAAATACTATAAAGTGGAACCTCTTG... | pathogenic | 93,853 |
Does the variant impacting HEXB (hexosaminidase subunit beta) on chromosome 5, position 74720696, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Sandhoff_disease'] | ACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCCTAATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGCTATGGACAAGATTGGAGGAAATACTATAAAGTGGAACCTCTTGATTTT... | ACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCCTAATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGCTATGGACAAGATTGGAGGAAATACTATAAAGTGGAACCTCTTGATTTT... | pathogenic | 93,854 |
Benign or pathogenic: chromosome 5, position 74720708, gene HEXB (hexosaminidase subunit beta) variant? Disease(s) if pathogenic? | pathogenic; ['Sandhoff_disease'] | GAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCCTAATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGCTATGGACAAGATTGGAGGAAATACTATAAAGTGGAACCTCTTGATTTTGGCGGTAAGTGA... | GAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCCTAATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGCTATGGACAAGATTGGAGGAAATACTATAAAGTGGAACCTCTTGATTTTGGCGGTAAGTGA... | pathogenic | 93,855 |
Gene mutation in HEXB (hexosaminidase subunit beta) at chromosome 5, position 74720742—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Sandhoff_disease'] | AGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCCTAATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGCTATGGACAAGATTGGAGGAAATACTATAAAGTGGAACCTCTTGATTTTGGCGGTAAGTGAAGCAGTTGGTCCAAGTGTTGTGGGTTACTGTGAA... | AGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCCTAATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGCTATGGACAAGATTGGAGGAAATACTATAAAGTGGAACCTCTTGATTTTGGCGGTAAGTGAAGCAGTTGGTCCAAGTGTTGTGGGTTACTGTGAA... | pathogenic | 93,858 |
A genetic variant on chromosome 5, position 74721143, affects the gene HEXB (hexosaminidase subunit beta). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Sandhoff_disease'] | TAGATATTACCTACCAACTATCTTTTATGTTTGATCCTTGATTTTATGTGTTTTTTTAAGTTCAGTATCATTTTAAACTCTCAAGAAACCATACAGTTGCCTAAATTCAAGAACTTCAAAAGTATTATAGATCCCCTTAGATTTTATCTCCATTTTCAGTGATGGCTCCTCACTCTCTACATTCTAAAGGTATTTGATTGCATTAACCTTACATGCCCTCTTCTGAACTGCTTCTCCAATGTAAGACACCTAAGCAAAGCTATAGTTTTAGTTCAGTGGATTTCAGGCTGTGTTGTCTTAGGATTCTGAGGAGTAGAATC... | TAGATATTACCTACCAACTATCTTTTATGTTTGATCCTTGATTTTATGTGTTTTTTTAAGTTCAGTATCATTTTAAACTCTCAAGAAACCATACAGTTGCCTAAATTCAAGAACTTCAAAAGTATTATAGATCCCCTTAGATTTTATCTCCATTTTCAGTGATGGCTCCTCACTCTCTACATTCTAAAGGTATTTGATTGCATTAACCTTACATGCCCTCTTCTGAACTGCTTCTCCAATGTAAGACACCTAAGCAAAGCTATAGTTTTAGTTCAGTGGATTTCAGGCTGTGTTGTCTTAGGATTCTGAGGAGTAGAATC... | pathogenic | 93,862 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 74721255, gene HEXB. What disease(s) is it linked to if pathogenic? | benign | ACTTCAAAAGTATTATAGATCCCCTTAGATTTTATCTCCATTTTCAGTGATGGCTCCTCACTCTCTACATTCTAAAGGTATTTGATTGCATTAACCTTACATGCCCTCTTCTGAACTGCTTCTCCAATGTAAGACACCTAAGCAAAGCTATAGTTTTAGTTCAGTGGATTTCAGGCTGTGTTGTCTTAGGATTCTGAGGAGTAGAATCCTTGGTGGATGGGACAGGAGGGAACATCTGAAGGGTGGAGCTTCAGGCTCTCAGATCCCCTTCATAAAAAACATTCTAGTTTGTCCAATTTTGTACATTAGCCTTTAGTGAA... | ACTTCAAAAGTATTATAGATCCCCTTAGATTTTATCTCCATTTTCAGTGATGGCTCCTCACTCTCTACATTCTAAAGGTATTTGATTGCATTAACCTTACATGCCCTCTTCTGAACTGCTTCTCCAATGTAAGACACCTAAGCAAAGCTATAGTTTTAGTTCAGTGGATTTCAGGCTGTGTTGTCTTAGGATTCTGAGGAGTAGAATCCTTGGTGGATGGGACAGGAGGGAACATCTGAAGGGTGGAGCTTCAGGCTCTCAGATCCCCTTCATAAAAAACATTCTAGTTTGTCCAATTTTGTACATTAGCCTTTAGTGAA... | benign | 93,863 |
Regarding the variant found on chromosome 5 at position 74726021 in gene GFM2 (GTP dependent ribosome recycling factor mitochondrial 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TGAACTATAAGCACAACACAGATGACTCAATAAATACATGAAGCACTTACAAGCAGAGAGAAGGAGATTCCCCATTAGAAGAAGCTTAACAAGGGTAGCAGTACTTCCATTAGGAGTGTTTTGTTTGAAGTAACGAATTAACACTAATGACTAAATGTAAGCCCCCATAAAGTTAATTCTTGTTCTCTGGCATAATCTTATTAAAAAGGCAAATGAACATGGAAATGCAGACTTTATTTTTAGAAGGCATATTACATTTTGAAGGACAGGCCAATATATTGAGGGCTTGGGGTCAATTTAGAAACTGCATTATTTTTCAG... | TGAACTATAAGCACAACACAGATGACTCAATAAATACATGAAGCACTTACAAGCAGAGAGAAGGAGATTCCCCATTAGAAGAAGCTTAACAAGGGTAGCAGTACTTCCATTAGGAGTGTTTTGTTTGAAGTAACGAATTAACACTAATGACTAAATGTAAGCCCCCATAAAGTTAATTCTTGTTCTCTGGCATAATCTTATTAAAAAGGCAAATGAACATGGAAATGCAGACTTTATTTTTAGAAGGCATATTACATTTTGAAGGACAGGCCAATATATTGAGGGCTTGGGGTCAATTTAGAAACTGCATTATTTTTCAG... | benign | 93,871 |
Regarding the variant at chromosome 5 and position 78015515, affecting gene AP3B1 (adaptor related protein complex 3 subunit beta 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CATAAACAGTGGCTACTCTATATTAAAACAAGACTGCAGTATTGCTGGATACTAGGTGTTTCAGGTAAAATTTCATACTGAAGAAGTTATACTTGATAATACAGCATTTTGGTGTTTTAGTAAATTCAATAATTCCAAGGACCCATAAATAAAACAAAACAGTTTCTGTTAGAGAAAATTACCTAGGAAAGTGAAAAGAAGTATTTAAAGCAGAATAAAATTAAAACAGGAAAACTCAAAATATTTATTTTCACTGAAAAGGCTTTTGTTACTCTTTTCCCTATTGAACAACATTAACTGATAAATAAGTTGTATTTTTG... | CATAAACAGTGGCTACTCTATATTAAAACAAGACTGCAGTATTGCTGGATACTAGGTGTTTCAGGTAAAATTTCATACTGAAGAAGTTATACTTGATAATACAGCATTTTGGTGTTTTAGTAAATTCAATAATTCCAAGGACCCATAAATAAAACAAAACAGTTTCTGTTAGAGAAAATTACCTAGGAAAGTGAAAAGAAGTATTTAAAGCAGAATAAAATTAAAACAGGAAAACTCAAAATATTTATTTTCACTGAAAAGGCTTTTGTTACTCTTTTCCCTATTGAACAACATTAACTGATAAATAAGTTGTATTTTTG... | benign | 94,017 |
Is the chromosome 5, position 78015524 variant in AP3B1 (adaptor related protein complex 3 subunit beta 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hermansky-Pudlak_syndrome_2'] | TGGCTACTCTATATTAAAACAAGACTGCAGTATTGCTGGATACTAGGTGTTTCAGGTAAAATTTCATACTGAAGAAGTTATACTTGATAATACAGCATTTTGGTGTTTTAGTAAATTCAATAATTCCAAGGACCCATAAATAAAACAAAACAGTTTCTGTTAGAGAAAATTACCTAGGAAAGTGAAAAGAAGTATTTAAAGCAGAATAAAATTAAAACAGGAAAACTCAAAATATTTATTTTCACTGAAAAGGCTTTTGTTACTCTTTTCCCTATTGAACAACATTAACTGATAAATAAGTTGTATTTTTGTGGTGGTCT... | TGGCTACTCTATATTAAAACAAGACTGCAGTATTGCTGGATACTAGGTGTTTCAGGTAAAATTTCATACTGAAGAAGTTATACTTGATAATACAGCATTTTGGTGTTTTAGTAAATTCAATAATTCCAAGGACCCATAAATAAAACAAAACAGTTTCTGTTAGAGAAAATTACCTAGGAAAGTGAAAAGAAGTATTTAAAGCAGAATAAAATTAAAACAGGAAAACTCAAAATATTTATTTTCACTGAAAAGGCTTTTGTTACTCTTTTCCCTATTGAACAACATTAACTGATAAATAAGTTGTATTTTTGTGGTGGTCT... | pathogenic | 94,018 |
A mutation at chromosome position 78039211 on chromosome 5 in gene AP3B1 (adaptor related protein complex 3 subunit beta 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hermansky-Pudlak_syndrome_2'] | GCCAACTAAAGGTCAACTCATCAACTCATTATGCCAGCTCAAAGAAAAATTAATACTGTTCTACTGCTTTAACCTTTGGATAACATTCTCAACCTTCAGACAATTCATGTATCAGCTGCTTGACACTTCCTAAACTAATTTTTTTTAACTAGGTAAAAAAGGTTGAATTACAAGCAACAAAAATAACACAATAATTCCTTGGCAATATATTAATGTCACACATTATATAATAAAAATTAGGATACTTTGTGTTCTTTAAATAGTGTCTTAATTATCAAAATATTTTTAAAAATTAAGTGGATTTTGAAATCAGCTTACTT... | GCCAACTAAAGGTCAACTCATCAACTCATTATGCCAGCTCAAAGAAAAATTAATACTGTTCTACTGCTTTAACCTTTGGATAACATTCTCAACCTTCAGACAATTCATGTATCAGCTGCTTGACACTTCCTAAACTAATTTTTTTTAACTAGGTAAAAAAGGTTGAATTACAAGCAACAAAAATAACACAATAATTCCTTGGCAATATATTAATGTCACACATTATATAATAAAAATTAGGATACTTTGTGTTCTTTAAATAGTGTCTTAATTATCAAAATATTTTTAAAAATTAAGTGGATTTTGAAATCAGCTTACTT... | pathogenic | 94,022 |
Variant in AP3B1 (adaptor related protein complex 3 subunit beta 1), chromosome 5, position 78101011—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TGTCCCTCCAAAATTCGTGTTGAAACCTAATCCAGACTATGGTGGGGCCTTTAGTAGGTAATTAGGTTATAGGGGTTCTACCCTCATGAATGGGATTATTGCCCTTATAAAAGTGGTATGAGGGATGGTGTTTCCTCCTTCTGTCACATGAGGAAACAGAAGTCACTATCTCTGAAGCAGAGCTAGCCCTCACCTATCATCAAATACGCTGGCACCTTGATCTTGGACTTCCCAGCCTCCAGAACTACGAACAACTAATTTCTGCTGTTTATAAATTACCCAGTCTAACGTATTCTGTTATGCCAGCTCAAAGGGACTAG... | TGTCCCTCCAAAATTCGTGTTGAAACCTAATCCAGACTATGGTGGGGCCTTTAGTAGGTAATTAGGTTATAGGGGTTCTACCCTCATGAATGGGATTATTGCCCTTATAAAAGTGGTATGAGGGATGGTGTTTCCTCCTTCTGTCACATGAGGAAACAGAAGTCACTATCTCTGAAGCAGAGCTAGCCCTCACCTATCATCAAATACGCTGGCACCTTGATCTTGGACTTCCCAGCCTCCAGAACTACGAACAACTAATTTCTGCTGTTTATAAATTACCCAGTCTAACGTATTCTGTTATGCCAGCTCAAAGGGACTAG... | benign | 94,026 |
Variant at chromosome 5, position 78141130, gene AP3B1 (adaptor related protein complex 3 subunit beta 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTCACTGGGTAAAAAGACATGAAACATGCTCTACAATAAACAGTACTACATTTCATTATTGGTTATTCACAGCTACAAAGAAAAGAGCCAAAGAAAGAAGCTTTACTTAGTTTGATTAAGTCTTGATTGACATTTGATTTTGGTATTACTTTAACAATAATCCATAAGCTAGATATATTTAGAGTGGCCAAACCAGACAGAAAAAAATCCTAAGAGTCTAGGTATCATATTGACTTTTGCCATACCACAGGGATTTAGTGAACACCATGGAGTTTCAGGCTAAAACTCCCTCTATTTTATCAAGAAACATGAAACTCAAC... | TTCACTGGGTAAAAAGACATGAAACATGCTCTACAATAAACAGTACTACATTTCATTATTGGTTATTCACAGCTACAAAGAAAAGAGCCAAAGAAAGAAGCTTTACTTAGTTTGATTAAGTCTTGATTGACATTTGATTTTGGTATTACTTTAACAATAATCCATAAGCTAGATATATTTAGAGTGGCCAAACCAGACAGAAAAAAATCCTAAGAGTCTAGGTATCATATTGACTTTTGCCATACCACAGGGATTTAGTGAACACCATGGAGTTTCAGGCTAAAACTCCCTCTATTTTATCAAGAAACATGAAACTCAAC... | benign | 94,040 |
For chromosome 5, position 78228244, gene AP3B1 (adaptor related protein complex 3 subunit beta 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GATAGAAGGACTTTTAAGCCGTTAGAGTGAGCATGGATCTTATCCCATAAGTTTCTAAGGAGAAAAGGTGAGTGAGAAGCATGATAAAACCTTGTCTGGCAGTTAACATAGGAATATGAGGTTTCACTTTCTACAAACATACACATTTATTACTAAACATTATAATTATCTGGACAAACTTTTTAATTCTTTCAAATTTCAGCTTAAGTCTTCCTTCTCAAAGCAGTATTTCACTACCAATCCCATCTCATTACATCTTTACTTTCCGGTAACAAAATATGATCATCTCTGGTCCCTGTCCTATCAAAGACATTGCTAGT... | GATAGAAGGACTTTTAAGCCGTTAGAGTGAGCATGGATCTTATCCCATAAGTTTCTAAGGAGAAAAGGTGAGTGAGAAGCATGATAAAACCTTGTCTGGCAGTTAACATAGGAATATGAGGTTTCACTTTCTACAAACATACACATTTATTACTAAACATTATAATTATCTGGACAAACTTTTTAATTCTTTCAAATTTCAGCTTAAGTCTTCCTTCTCAAAGCAGTATTTCACTACCAATCCCATCTCATTACATCTTTACTTTCCGGTAACAAAATATGATCATCTCTGGTCCCTGTCCTATCAAAGACATTGCTAGT... | benign | 94,060 |
Is chromosome 5, position 78267546, gene AP3B1 (adaptor related protein complex 3 subunit beta 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autoinflammatory_syndrome', 'Hermansky-Pudlak_syndrome_2'] | GAACTTGTTCTCTTATCAGTGTTTAACTCATGATACTGAGGAAGAATCTTTCGTATTCCTCAGTAAATTATCATGCTCCTTTCTAAGTCTGGATCAGCTTCCAACATTTTACCCTTTGCATTTTCAATGTTCTCAACTATCTCCTAGAGTTCCTTTAATGAATGTGAGGTCTTCTGACAGCATCACTTCCTCTGAGACAGCTTCATGCTCTTCAACAAAATCACTTTCATCATTTATGTTGGTTGAAAATCTCACCTTACCAAGTTCCTCCAGCTATAAATTCAGTCTCTTAAAAACGTGTAATGTCAGTAGTTCCACAG... | GAACTTGTTCTCTTATCAGTGTTTAACTCATGATACTGAGGAAGAATCTTTCGTATTCCTCAGTAAATTATCATGCTCCTTTCTAAGTCTGGATCAGCTTCCAACATTTTACCCTTTGCATTTTCAATGTTCTCAACTATCTCCTAGAGTTCCTTTAATGAATGTGAGGTCTTCTGACAGCATCACTTCCTCTGAGACAGCTTCATGCTCTTCAACAAAATCACTTTCATCATTTATGTTGGTTGAAAATCTCACCTTACCAAGTTCCTCCAGCTATAAATTCAGTCTCTTAAAAACGTGTAATGTCAGTAGTTCCACAG... | pathogenic | 94,065 |
Located at chromosome 5 position 78780421, the variant affecting gene ARSB (arylsulfatase B)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Mucopolysaccharidosis_type_6'] | AAATATTGCTACTGAATTGAAGGATGACTATACAAGGACTTATATCAGATTATTTGTTGCTTTTAGTTTCTAGTGTCCCATAAAGTATAGAAATGGAAATTGCTGACAAGAGAGTACCTTTGGTAGGCACAGTTCCTTTTCTCCCCCCACTGGAGAGGACGCTACAACCTTGCTATAGAGTGTCCTGTGACTGCCCAGTGATGTAGATTATGCTCCTACCCCAGGAGGGGCAGCTTGAGAACAGAAAAGCAACAGCTGGAAGACATTTATATTACCTCTGTATTCAGCTCATTGGACTAGCATCTTTCATGGTGTGAGAC... | AAATATTGCTACTGAATTGAAGGATGACTATACAAGGACTTATATCAGATTATTTGTTGCTTTTAGTTTCTAGTGTCCCATAAAGTATAGAAATGGAAATTGCTGACAAGAGAGTACCTTTGGTAGGCACAGTTCCTTTTCTCCCCCCACTGGAGAGGACGCTACAACCTTGCTATAGAGTGTCCTGTGACTGCCCAGTGATGTAGATTATGCTCCTACCCCAGGAGGGGCAGCTTGAGAACAGAAAAGCAACAGCTGGAAGACATTTATATTACCTCTGTATTCAGCTCATTGGACTAGCATCTTTCATGGTGTGAGAC... | pathogenic | 94,079 |
Is the genetic change at chromosome 5, position 78780442, within gene ARSB (arylsulfatase B) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis_type_6'] | GGATGACTATACAAGGACTTATATCAGATTATTTGTTGCTTTTAGTTTCTAGTGTCCCATAAAGTATAGAAATGGAAATTGCTGACAAGAGAGTACCTTTGGTAGGCACAGTTCCTTTTCTCCCCCCACTGGAGAGGACGCTACAACCTTGCTATAGAGTGTCCTGTGACTGCCCAGTGATGTAGATTATGCTCCTACCCCAGGAGGGGCAGCTTGAGAACAGAAAAGCAACAGCTGGAAGACATTTATATTACCTCTGTATTCAGCTCATTGGACTAGCATCTTTCATGGTGTGAGACTTTCTCATTTACTCATTTGTC... | GGATGACTATACAAGGACTTATATCAGATTATTTGTTGCTTTTAGTTTCTAGTGTCCCATAAAGTATAGAAATGGAAATTGCTGACAAGAGAGTACCTTTGGTAGGCACAGTTCCTTTTCTCCCCCCACTGGAGAGGACGCTACAACCTTGCTATAGAGTGTCCTGTGACTGCCCAGTGATGTAGATTATGCTCCTACCCCAGGAGGGGCAGCTTGAGAACAGAAAAGCAACAGCTGGAAGACATTTATATTACCTCTGTATTCAGCTCATTGGACTAGCATCTTTCATGGTGTGAGACTTTCTCATTTACTCATTTGTC... | pathogenic | 94,080 |
Clinically, how would you classify the variant at chromosome 5, position 78781888, gene ARSB (arylsulfatase B): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Mucopolysaccharidosis_type_6'] | CCTGAACAACAAAATGGGCCTTATGCTCTGTGATGAGATAAGTGAGTAAGGGGTGAACCAAGAGGGGTGGTTCACTTGGAGTGCCTGAACATGATCCTTCACCGACAGGGAGAAGCCTTGGCCAACAGAACCATTAATCACTGTCTGCTCCCTTCATTTGCGTAAGAAATGTGATTCACTCCAATAAAACTGGCTATTGGCAGAGGGGAATCGAACGTCTGACTTGTGAGTCTAAAAGAGCCAGCTGTTCCAGCCTCCAGGATTCAGTGAGAACTTCCTATTTCAAGTTAAGTTCCCAGCTGTCCCAAGGCTTAGGAAAG... | CCTGAACAACAAAATGGGCCTTATGCTCTGTGATGAGATAAGTGAGTAAGGGGTGAACCAAGAGGGGTGGTTCACTTGGAGTGCCTGAACATGATCCTTCACCGACAGGGAGAAGCCTTGGCCAACAGAACCATTAATCACTGTCTGCTCCCTTCATTTGCGTAAGAAATGTGATTCACTCCAATAAAACTGGCTATTGGCAGAGGGGAATCGAACGTCTGACTTGTGAGTCTAAAAGAGCCAGCTGTTCCAGCCTCCAGGATTCAGTGAGAACTTCCTATTTCAAGTTAAGTTCCCAGCTGTCCCAAGGCTTAGGAAAG... | pathogenic | 94,096 |
Benign or pathogenic: chromosome 5, position 78885664, gene ARSB (arylsulfatase B) variant? Disease(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis_type_6'] | AAAATAATTGAAAGAAGGTTATAAAGCTAATTAAATCAGATTTTCCCTTGGGTTTGTAAGAGATGAGGACCTTCCCTAGTCTCACCCTTCTGGGTGAGGCCCATTAGAGAGGAACCCATAGACTCCACGTTGTGAGAGGTTGAGCGGCCTGGCTGAACACTTCTTCTATCCATTCCTGAACTCACAGGACTTTAAACTTTAATGTTTAAACTTGAATAGCTATCAAACTTCCTTTGTAAAAACTAATCTTAGGCTGCTGAACCCTACTATTTTTTAACATTAATTATTAATTACAGAAAAATTGATAATATAAAAAGATA... | AAAATAATTGAAAGAAGGTTATAAAGCTAATTAAATCAGATTTTCCCTTGGGTTTGTAAGAGATGAGGACCTTCCCTAGTCTCACCCTTCTGGGTGAGGCCCATTAGAGAGGAACCCATAGACTCCACGTTGTGAGAGGTTGAGCGGCCTGGCTGAACACTTCTTCTATCCATTCCTGAACTCACAGGACTTTAAACTTTAATGTTTAAACTTGAATAGCTATCAAACTTCCTTTGTAAAAACTAATCTTAGGCTGCTGAACCCTACTATTTTTTAACATTAATTATTAATTACAGAAAAATTGATAATATAAAAAGATA... | pathogenic | 94,125 |
Regarding the variant found on chromosome 5 at position 78955407 in gene ARSB (arylsulfatase B): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Mucopolysaccharidosis_type_6'] | GCAAGTTACTTATGCCCTTTGTGCTTCAGTTCTCACATCTGCAAGATGGGACAATAATAGTTCCCAGAGAATCCATTATCATGAGGATTCACTGAACTAATTCGCATGAAACACTTAGAACTGCGTCCCACACATAGTAACTGCTCAACAAATGCCACGTTCAATAACTATGCCTGATTGAAAGCAAAACAAAACAACTCGTGAAAAAACAAAACCACAAAAGTATGAGTAGAATACCAAAATGAATTCCTCAACATGTCACCTCACCCCTACATGGTCATGTTACAGTAAAACTCACCAGATGACAAGCCCTGACCTGG... | GCAAGTTACTTATGCCCTTTGTGCTTCAGTTCTCACATCTGCAAGATGGGACAATAATAGTTCCCAGAGAATCCATTATCATGAGGATTCACTGAACTAATTCGCATGAAACACTTAGAACTGCGTCCCACACATAGTAACTGCTCAACAAATGCCACGTTCAATAACTATGCCTGATTGAAAGCAAAACAAAACAACTCGTGAAAAAACAAAACCACAAAAGTATGAGTAGAATACCAAAATGAATTCCTCAACATGTCACCTCACCCCTACATGGTCATGTTACAGTAAAACTCACCAGATGACAAGCCCTGACCTGG... | pathogenic | 94,144 |
Is the genetic variant on chromosome 5, position 78955449, gene ARSB (arylsulfatase B), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Mucopolysaccharidosis,_type_vi,_severe', 'Mucopolysaccharidosis_type_6'] | AAGATGGGACAATAATAGTTCCCAGAGAATCCATTATCATGAGGATTCACTGAACTAATTCGCATGAAACACTTAGAACTGCGTCCCACACATAGTAACTGCTCAACAAATGCCACGTTCAATAACTATGCCTGATTGAAAGCAAAACAAAACAACTCGTGAAAAAACAAAACCACAAAAGTATGAGTAGAATACCAAAATGAATTCCTCAACATGTCACCTCACCCCTACATGGTCATGTTACAGTAAAACTCACCAGATGACAAGCCCTGACCTGGCACTTGGAGTTTCCAATCAAATTGTTAGATTTCAGCCAAGAA... | AAGATGGGACAATAATAGTTCCCAGAGAATCCATTATCATGAGGATTCACTGAACTAATTCGCATGAAACACTTAGAACTGCGTCCCACACATAGTAACTGCTCAACAAATGCCACGTTCAATAACTATGCCTGATTGAAAGCAAAACAAAACAACTCGTGAAAAAACAAAACCACAAAAGTATGAGTAGAATACCAAAATGAATTCCTCAACATGTCACCTCACCCCTACATGGTCATGTTACAGTAAAACTCACCAGATGACAAGCCCTGACCTGGCACTTGGAGTTTCCAATCAAATTGTTAGATTTCAGCCAAGAA... | pathogenic | 94,148 |
Gene ARSB (arylsulfatase B) variant at chromosome position 78969077 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Metachromatic_leukodystrophy', 'Mucopolysaccharidosis_type_6'] | GATTTTAACCCTGAATCCAATGAGGCATTACAGAGCCATGTGCTTCAGCTGCATTGTTTTGGCCCCCATATAATTACTTTTACTGAATTGCACTTTGGTGCTCTGGCCCTAGCTTGAACAGAAGAAAATACCTCAAAACATCTACAAGAAAACCACCTAACGTATTATTAAAATGACATTTTTAAAGATGTTGTCCACCTTACCTTCTCCTTCTCCCAAAGGAGAAATTTCTGTCAGGCCTAAGAGCCAGAAAATGCTTTTGCTTTTCCTGAACATCTGGTTTCCATTTATCTTGTAAATAATGTAACTCTTATAGTCTT... | GATTTTAACCCTGAATCCAATGAGGCATTACAGAGCCATGTGCTTCAGCTGCATTGTTTTGGCCCCCATATAATTACTTTTACTGAATTGCACTTTGGTGCTCTGGCCCTAGCTTGAACAGAAGAAAATACCTCAAAACATCTACAAGAAAACCACCTAACGTATTATTAAAATGACATTTTTAAAGATGTTGTCCACCTTACCTTCTCCTTCTCCCAAAGGAGAAATTTCTGTCAGGCCTAAGAGCCAGAAAATGCTTTTGCTTTTCCTGAACATCTGGTTTCCATTTATCTTGTAAATAATGTAACTCTTATAGTCTT... | pathogenic | 94,163 |
Does the variant impacting ARSB (arylsulfatase B) on chromosome 5, position 78969139, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mucopolysaccharidosis_type_6'] | CCCCCATATAATTACTTTTACTGAATTGCACTTTGGTGCTCTGGCCCTAGCTTGAACAGAAGAAAATACCTCAAAACATCTACAAGAAAACCACCTAACGTATTATTAAAATGACATTTTTAAAGATGTTGTCCACCTTACCTTCTCCTTCTCCCAAAGGAGAAATTTCTGTCAGGCCTAAGAGCCAGAAAATGCTTTTGCTTTTCCTGAACATCTGGTTTCCATTTATCTTGTAAATAATGTAACTCTTATAGTCTTTTCCTTTCTTTCTCCCTCTTCGGACAAATAAATTTCAAATCTCAGGCTGGGCGCGGTGGCTC... | CCCCCATATAATTACTTTTACTGAATTGCACTTTGGTGCTCTGGCCCTAGCTTGAACAGAAGAAAATACCTCAAAACATCTACAAGAAAACCACCTAACGTATTATTAAAATGACATTTTTAAAGATGTTGTCCACCTTACCTTCTCCTTCTCCCAAAGGAGAAATTTCTGTCAGGCCTAAGAGCCAGAAAATGCTTTTGCTTTTCCTGAACATCTGGTTTCCATTTATCTTGTAAATAATGTAACTCTTATAGTCTTTTCCTTTCTTTCTCCCTCTTCGGACAAATAAATTTCAAATCTCAGGCTGGGCGCGGTGGCTC... | pathogenic | 94,164 |
Variant at chromosome position 78984990, chromosome 5, gene ARSB: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Mucopolysaccharidosis_type_6'] | TCATAACCATGGGGTACTCTAAATACTAAAGTTTGTTCTCCAAGACATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGT... | TCATAACCATGGGGTACTCTAAATACTAAAGTTTGTTCTCCAAGACATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGT... | pathogenic | 94,180 |
Assess the variant on chromosome 5, position 78985003, impacting ARSB: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Mucopolysaccharidosis_type_6'] | GTACTCTAAATACTAAAGTTTGTTCTCCAAGACATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCG... | GTACTCTAAATACTAAAGTTTGTTCTCCAAGACATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCG... | pathogenic | 94,182 |
Determine whether the variant at chromosome 5, position 78985005, in gene ARSB is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Mucopolysaccharidosis_type_6'] | ACTCTAAATACTAAAGTTTGTTCTCCAAGACATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAA... | ACTCTAAATACTAAAGTTTGTTCTCCAAGACATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAA... | pathogenic | 94,185 |
Clinically, how would you classify the variant at chromosome 5, position 78985035, gene ARSB: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Mucopolysaccharidosis_type_6'] | CATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCA... | CATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCA... | pathogenic | 94,187 |
Gene ARSB variant at chromosome 5, position 78985075—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Mucopolysaccharidosis_type_6'] | AAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTC... | AAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTC... | pathogenic | 94,188 |
A genetic alteration at chromosome 5, position 78985109, in gene ARSB—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Mucopolysaccharidosis_type_6'] | TATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTGAAGTTGGTATTT... | TATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTGAAGTTGGTATTT... | pathogenic | 94,191 |
Variant in ARSB, chromosome 5, position 78985114—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Mucopolysaccharidosis_type_6'] | TGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTGAAGTTGGTATTTGCTTT... | TGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTGAAGTTGGTATTTGCTTT... | pathogenic | 94,192 |
Located at chromosome 5 position 78985125, the variant affecting gene ARSB—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Mucopolysaccharidosis_type_6'] | GGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTGAAGTTGGTATTTGCTTTCCTGTCCAACT... | GGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTGAAGTTGGTATTTGCTTTCCTGTCCAACT... | pathogenic | 94,193 |
Is the genetic variant on chromosome 5, position 78985127, gene ARSB, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['ARSB-related_disorder', 'Mucopolysaccharidosis_type_6'] | AGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTGAAGTTGGTATTTGCTTTCCTGTCCAACTCT... | AGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTGAAGTTGGTATTTGCTTTCCTGTCCAACTCT... | pathogenic | 94,195 |
Does the variant impacting ARSB on chromosome 5, position 78985127, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTGAAGTTGGTATTTGCTTTCCTGTCCAACTCT... | AGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTGAAGTTGGTATTTGCTTTCCTGTCCAACTCT... | benign | 94,196 |
Gene ARSB variant at chromosome 5, position 78985128—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Mucopolysaccharidosis_type_6'] | GTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTGAAGTTGGTATTTGCTTTCCTGTCCAACTCTG... | GTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTGAAGTTGGTATTTGCTTTCCTGTCCAACTCTG... | pathogenic | 94,197 |
Considering the genetic mutation at chromosome 5, position 78985135, impacting ARSB: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis_type_6'] | TCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTGAAGTTGGTATTTGCTTTCCTGTCCAACTCTGTTGGAAG... | TCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTGAAGTTGGTATTTGCTTTCCTGTCCAACTCTGTTGGAAG... | pathogenic | 94,198 |
The mutation in gene ARSB (arylsulfatase B) at chromosome 5, position 78985560—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCTTCTTCTTCTTCTTTACTGGCACATCCCTTTACTCCCACAAAGTGTCCAGGGTGAGATTTACACAATGTAGGGGATTCCTAATTACACGTAGCAGCCAAGGTCAGAACCGCCAAAAGTACTAAGGTGGATGGTGAAGGGAAGCATCCTTTACTCCCATTTCTAACCTTGGCTACAGCTATTTCTCACCCTTAGCAACACCCAATCTTTCCTCTTTATAAAAGCCTTCAGACCACTGCGCATATCTTTATCACAAGTAAGCCCTCCCTTCTCTTGATCTTAGGACCACGTGAGGCTAGGGTTGATCTGACAGGTTATGC... | CCTTCTTCTTCTTCTTTACTGGCACATCCCTTTACTCCCACAAAGTGTCCAGGGTGAGATTTACACAATGTAGGGGATTCCTAATTACACGTAGCAGCCAAGGTCAGAACCGCCAAAAGTACTAAGGTGGATGGTGAAGGGAAGCATCCTTTACTCCCATTTCTAACCTTGGCTACAGCTATTTCTCACCCTTAGCAACACCCAATCTTTCCTCTTTATAAAAGCCTTCAGACCACTGCGCATATCTTTATCACAAGTAAGCCCTCCCTTCTCTTGATCTTAGGACCACGTGAGGCTAGGGTTGATCTGACAGGTTATGC... | benign | 94,202 |
Is the variant located on chromosome 5 at position 78985652, gene ARSB (arylsulfatase B), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AGCAGCCAAGGTCAGAACCGCCAAAAGTACTAAGGTGGATGGTGAAGGGAAGCATCCTTTACTCCCATTTCTAACCTTGGCTACAGCTATTTCTCACCCTTAGCAACACCCAATCTTTCCTCTTTATAAAAGCCTTCAGACCACTGCGCATATCTTTATCACAAGTAAGCCCTCCCTTCTCTTGATCTTAGGACCACGTGAGGCTAGGGTTGATCTGACAGGTTATGCGAACACACACTTGGGAGGGCAACATTCAAATATATATCCCCTGTCAGTAGCACAGTAAGCTCAAAATATTTTTGTTGAGTAAACAGCATATG... | AGCAGCCAAGGTCAGAACCGCCAAAAGTACTAAGGTGGATGGTGAAGGGAAGCATCCTTTACTCCCATTTCTAACCTTGGCTACAGCTATTTCTCACCCTTAGCAACACCCAATCTTTCCTCTTTATAAAAGCCTTCAGACCACTGCGCATATCTTTATCACAAGTAAGCCCTCCCTTCTCTTGATCTTAGGACCACGTGAGGCTAGGGTTGATCTGACAGGTTATGCGAACACACACTTGGGAGGGCAACATTCAAATATATATCCCCTGTCAGTAGCACAGTAAGCTCAAAATATTTTTGTTGAGTAAACAGCATATG... | benign | 94,203 |
Does the chromosome 5 mutation at position 80654344 within gene MSH3 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CCGCCAAAAGATGAAATTTGAAATCTGGTTAGGCTGATGTTAGGGCTCTTTGTTTTTGGGGTTTGGCAGAGATCTCCTTTAAAAAACTGAACTTAAAAGTCTTACCAAAATTCATACTTATCACTCATTACCTAAATCTAACTATTTTTCCCTTTGGCATTATCCAATTTATATCCAATATTTAGTTTTAATCATTTGCAATTGTGTATGACATAGTAAAGATTCTGGGGAGGCCAAGATGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT... | CCGCCAAAAGATGAAATTTGAAATCTGGTTAGGCTGATGTTAGGGCTCTTTGTTTTTGGGGTTTGGCAGAGATCTCCTTTAAAAAACTGAACTTAAAAGTCTTACCAAAATTCATACTTATCACTCATTACCTAAATCTAACTATTTTTCCCTTTGGCATTATCCAATTTATATCCAATATTTAGTTTTAATCATTTGCAATTGTGTATGACATAGTAAAGATTCTGGGGAGGCCAAGATGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT... | benign | 94,281 |
Evaluate if the mutation on chromosome 5 at position 80654739 in MSH3 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Endometrial_carcinoma', 'Familial_adenomatous_polyposis_4', 'Hereditary_cancer-predisposing_syndrome'] | GAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCCTCTTAAAAAAAAAAAAAAAAAAGATTCTGAGTCAAAGTGCTCAAGTTGAATGCATTTTGTCACCCACAAGACAAAACGTGTTAACCCCTTGTGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAA... | GAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCCTCTTAAAAAAAAAAAAAAAAAAGATTCTGAGTCAAAGTGCTCAAGTTGAATGCATTTTGTCACCCACAAGACAAAACGTGTTAACCCCTTGTGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAA... | pathogenic | 94,284 |
Is chromosome 5, position 80654854, gene MSH3 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | TGAATGCATTTTGTCACCCACAAGACAAAACGTGTTAACCCCTTGTGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTC... | TGAATGCATTTTGTCACCCACAAGACAAAACGTGTTAACCCCTTGTGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTC... | pathogenic | 94,314 |
Variant chromosome 5, position 80654870, gene MSH3: benign or pathogenic? Disease(s)? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | CCCACAAGACAAAACGTGTTAACCCCTTGTGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTT... | CCCACAAGACAAAACGTGTTAACCCCTTGTGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTT... | pathogenic | 94,321 |
Evaluate the clinical significance of the mutation at chromosome 5, position 80654877 in gene MSH3: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GACAAAACGTGTTAACCCCTTGTGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGG... | GACAAAACGTGTTAACCCCTTGTGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGG... | benign | 94,327 |
The genetic variant at chromosome 5, position 80654880, affecting gene MSH3: benign or pathogenic? Disease name(s) if pathogenic? | benign | AAAACGTGTTAACCCCTTGTGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAA... | AAAACGTGTTAACCCCTTGTGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAA... | benign | 94,329 |
Does the genetic variant at chromosome 5, position 80654889, impacting gene MSH3, appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TAACCCCTTGTGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTG... | TAACCCCTTGTGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTG... | benign | 94,336 |
Does the chromosome 5 mutation at position 80654889 within gene MSH3 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TAACCCCTTGTGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTG... | TAACCCCTTGTGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTG... | benign | 94,337 |
Considering the variant on chromosome 5, location 80654905, involving gene MSH3, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGA... | ACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGA... | benign | 94,347 |
Is the genetic mutation found on chromosome 5 at position 80654905, within the gene MSH3, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGA... | ACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGA... | benign | 94,348 |
Does the variant on chromosome 5 at location 80654908 affecting gene MSH3 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACC... | TTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACC... | benign | 94,350 |
Clinical significance of chromosome 5, position 80654908, gene MSH3: benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACC... | TTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACC... | benign | 94,351 |
Classify the chromosome 5 variant at position 80654908 affecting gene MSH3 as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACC... | TTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACC... | benign | 94,352 |
Does the variant on chromosome 5 at location 80654908 affecting gene MSH3 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACC... | TTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACC... | benign | 94,353 |
Considering the genetic mutation at chromosome 5, position 80654908, impacting MSH3: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACC... | TTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACC... | benign | 94,354 |
Does the variant impacting MSH3 on chromosome 5, position 80654922, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACCAAAGAAACATTAAC... | GAGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACCAAAGAAACATTAAC... | benign | 94,362 |
Located at chromosome 5 position 80654923, the variant affecting gene MSH3—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACCAAAGAAACATTAACA... | AGATAACAATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACCAAAGAAACATTAACA... | pathogenic | 94,363 |
A genetic variant at chromosome 5, position 80654930, affecting gene MSH3—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | AATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACCAAAGAAACATTAACATTACCAG... | AATAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACCAAAGAAACATTAACATTACCAG... | pathogenic | 94,366 |
Considering the variant on chromosome 5, location 80654932, involving gene MSH3, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | TAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACCAAAGAAACATTAACATTACCAGAC... | TAGTTCCTGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACCAAAGAAACATTAACATTACCAGAC... | pathogenic | 94,368 |
A genetic alteration at chromosome 5, position 80654939, in gene MSH3—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | TGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACCAAAGAAACATTAACATTACCAGACTATATTG... | TGCTTCTAGGGTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACCAAAGAAACATTAACATTACCAGACTATATTG... | pathogenic | 94,373 |
Considering the variant on chromosome 5, location 80654961, involving gene MSH3, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACCAAAGAAACATTAACATTACCAGACTATATTGGGATTTTTGAGACTGGCTTTTA... | ATTAAAGACTTAGAATAATGTTCAGCCTCTAATCAGTGCTGTCACAACTGTCTGATACAATTGTATTATATTTGTGTACTTTGTAGATTGATATTAAATCATACTTTTAAAAATAGGTGCTTAATGTTCCACTCAATTACCTTAAAACATGTTTAATTATGTCTCTATCCTACTCTTATAACACTTCTATAAAAACTTTTTACATATAGCGTCCACTTTTGGTTCAGTTTCTTAGGAAAATAACTTTGAGAGTCAGCTATCTGAACCAAAGAAACATTAACATTACCAGACTATATTGGGATTTTTGAGACTGGCTTTTA... | benign | 94,384 |
A genetic variant at chromosome 5, position 80656414, affecting gene MSH3 (mutS homolog 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Endometrial_carcinoma', 'Familial_adenomatous_polyposis_4', 'Hereditary_cancer-predisposing_syndrome'] | CGCCCGTTTGGGTCCCATCGCCCCGGCCCGGCAGATACCTGAGCGGTGGCCAGGGCAGGTCCCCGTTCTTGCCGATGCCCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCT... | CGCCCGTTTGGGTCCCATCGCCCCGGCCCGGCAGATACCTGAGCGGTGGCCAGGGCAGGTCCCCGTTCTTGCCGATGCCCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCT... | pathogenic | 94,395 |
The chromosome 5, position 80656425 genetic variant in gene MSH3 (mutS homolog 3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_adenomatous_polyposis_4'] | GTCCCATCGCCCCGGCCCGGCAGATACCTGAGCGGTGGCCAGGGCAGGTCCCCGTTCTTGCCGATGCCCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGC... | GTCCCATCGCCCCGGCCCGGCAGATACCTGAGCGGTGGCCAGGGCAGGTCCCCGTTCTTGCCGATGCCCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGC... | pathogenic | 94,397 |
Clinical classification of chromosome 5, position 80656427, gene MSH3 (mutS homolog 3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Endometrial_carcinoma', 'Familial_adenomatous_polyposis_4', 'Hereditary_cancer-predisposing_syndrome'] | CCCATCGCCCCGGCCCGGCAGATACCTGAGCGGTGGCCAGGGCAGGTCCCCGTTCTTGCCGATGCCCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGCCC... | CCCATCGCCCCGGCCCGGCAGATACCTGAGCGGTGGCCAGGGCAGGTCCCCGTTCTTGCCGATGCCCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGCCC... | pathogenic | 94,399 |
Gene MSH3 (mutS homolog 3) variant at chromosome 5, position 80656432—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Endometrial_carcinoma', 'Familial_adenomatous_polyposis_4', 'Hereditary_cancer-predisposing_syndrome'] | CGCCCCGGCCCGGCAGATACCTGAGCGGTGGCCAGGGCAGGTCCCCGTTCTTGCCGATGCCCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGCCCTGCCG... | CGCCCCGGCCCGGCAGATACCTGAGCGGTGGCCAGGGCAGGTCCCCGTTCTTGCCGATGCCCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGCCCTGCCG... | pathogenic | 94,400 |
Benign or pathogenic: chromosome 5, position 80656464, gene MSH3 (mutS homolog 3) variant? Disease(s) if pathogenic? | pathogenic; ['Endometrial_carcinoma', 'Familial_adenomatous_polyposis_4', 'Hereditary_cancer-predisposing_syndrome'] | CAGGGCAGGTCCCCGTTCTTGCCGATGCCCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGCCCTGCCGCCGGGCTGCCATCCTTGCCCTGCCATGTCTCG... | CAGGGCAGGTCCCCGTTCTTGCCGATGCCCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGCCCTGCCGCCGGGCTGCCATCCTTGCCCTGCCATGTCTCG... | pathogenic | 94,407 |
Variant in gene MSH3 (mutS homolog 3), located at chromosome 5 position 80656470: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_4', 'Hereditary_cancer-predisposing_syndrome'] | AGGTCCCCGTTCTTGCCGATGCCCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGCCCTGCCGCCGGGCTGCCATCCTTGCCCTGCCATGTCTCGCCGGAA... | AGGTCCCCGTTCTTGCCGATGCCCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGCCCTGCCGCCGGGCTGCCATCCTTGCCCTGCCATGTCTCGCCGGAA... | pathogenic | 94,409 |
Is the genetic variant on chromosome 5, position 80656475, gene MSH3 (mutS homolog 3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | CCCGTTCTTGCCGATGCCCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGCCCTGCCGCCGGGCTGCCATCCTTGCCCTGCCATGTCTCGCCGGAAGCCTG... | CCCGTTCTTGCCGATGCCCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGCCCTGCCGCCGGGCTGCCATCCTTGCCCTGCCATGTCTCGCCGGAAGCCTG... | pathogenic | 94,410 |
Gene MSH3 (mutS homolog 3) variant at chromosome 5, position 80656518—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_adenomatous_polyposis_4', 'Hereditary_cancer-predisposing_syndrome'] | CAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGCCCTGCCGCCGGGCTGCCATCCTTGCCCTGCCATGTCTCGCCGGAAGCCTGCGTCGGGCGGCCTCGCTGCCTCCAGCTCAGCCCCTGCGAGGCA... | CAGTTTAGCGAACCAACCATGACAGCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAAGTTTGGCGCGAAATTGTGGCCGCCCCGCCCCCCTCGTCCCCATTTGTGCAGGCGAGGCCCCGCCCCCCCGCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGCCCTGCCGCCGGGCTGCCATCCTTGCCCTGCCATGTCTCGCCGGAAGCCTGCGTCGGGCGGCCTCGCTGCCTCCAGCTCAGCCCCTGCGAGGCA... | pathogenic | 94,419 |
The genetic variant at chromosome 5, position 80665175, affecting gene MSH3 (mutS homolog 3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Endometrial_carcinoma', 'Familial_adenomatous_polyposis_4'] | ACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCTGGGAGGTCAAGGTTGGAAAAAGAAAATGTATTGTTTTGAACGAAGGTTCATTGGTACTTGGAAAATTTGGAGTAACTGGCAAGCTCTGATTAGTGAATGACTGCAATGGGTAAAACTAGCCATAGAGTCACAGCAGGTTGTTTTAGCAGCTATCAGGTAAAATTGGTTTCAGGTTACAGTAGGCAGTTTCAGCAGCTAGGCTTGCAGAGAATTACATTTTTGGAGCAATGATATGTGCTCTCAGTGCTTTTTCCCCTGGCCTCTCTACTCCATTTCAATTGAGT... | ACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCTGGGAGGTCAAGGTTGGAAAAAGAAAATGTATTGTTTTGAACGAAGGTTCATTGGTACTTGGAAAATTTGGAGTAACTGGCAAGCTCTGATTAGTGAATGACTGCAATGGGTAAAACTAGCCATAGAGTCACAGCAGGTTGTTTTAGCAGCTATCAGGTAAAATTGGTTTCAGGTTACAGTAGGCAGTTTCAGCAGCTAGGCTTGCAGAGAATTACATTTTTGGAGCAATGATATGTGCTCTCAGTGCTTTTTCCCCTGGCCTCTCTACTCCATTTCAATTGAGT... | pathogenic | 94,433 |
Mutation found at chromosome 5 position 80665187, gene MSH3 (mutS homolog 3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Endometrial_carcinoma', 'Familial_adenomatous_polyposis_4'] | GAGGTGGGAGGATCTCTTGAGCCTGGGAGGTCAAGGTTGGAAAAAGAAAATGTATTGTTTTGAACGAAGGTTCATTGGTACTTGGAAAATTTGGAGTAACTGGCAAGCTCTGATTAGTGAATGACTGCAATGGGTAAAACTAGCCATAGAGTCACAGCAGGTTGTTTTAGCAGCTATCAGGTAAAATTGGTTTCAGGTTACAGTAGGCAGTTTCAGCAGCTAGGCTTGCAGAGAATTACATTTTTGGAGCAATGATATGTGCTCTCAGTGCTTTTTCCCCTGGCCTCTCTACTCCATTTCAATTGAGTATGACAAGAATG... | GAGGTGGGAGGATCTCTTGAGCCTGGGAGGTCAAGGTTGGAAAAAGAAAATGTATTGTTTTGAACGAAGGTTCATTGGTACTTGGAAAATTTGGAGTAACTGGCAAGCTCTGATTAGTGAATGACTGCAATGGGTAAAACTAGCCATAGAGTCACAGCAGGTTGTTTTAGCAGCTATCAGGTAAAATTGGTTTCAGGTTACAGTAGGCAGTTTCAGCAGCTAGGCTTGCAGAGAATTACATTTTTGGAGCAATGATATGTGCTCTCAGTGCTTTTTCCCCTGGCCTCTCTACTCCATTTCAATTGAGTATGACAAGAATG... | pathogenic | 94,435 |
Located at chromosome 5 position 80665222, the variant affecting gene MSH3 (mutS homolog 3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_adenomatous_polyposis_4'] | GTTGGAAAAAGAAAATGTATTGTTTTGAACGAAGGTTCATTGGTACTTGGAAAATTTGGAGTAACTGGCAAGCTCTGATTAGTGAATGACTGCAATGGGTAAAACTAGCCATAGAGTCACAGCAGGTTGTTTTAGCAGCTATCAGGTAAAATTGGTTTCAGGTTACAGTAGGCAGTTTCAGCAGCTAGGCTTGCAGAGAATTACATTTTTGGAGCAATGATATGTGCTCTCAGTGCTTTTTCCCCTGGCCTCTCTACTCCATTTCAATTGAGTATGACAAGAATGACCCAATTTATATGATCAACTTTCACAATACTTTT... | GTTGGAAAAAGAAAATGTATTGTTTTGAACGAAGGTTCATTGGTACTTGGAAAATTTGGAGTAACTGGCAAGCTCTGATTAGTGAATGACTGCAATGGGTAAAACTAGCCATAGAGTCACAGCAGGTTGTTTTAGCAGCTATCAGGTAAAATTGGTTTCAGGTTACAGTAGGCAGTTTCAGCAGCTAGGCTTGCAGAGAATTACATTTTTGGAGCAATGATATGTGCTCTCAGTGCTTTTTCCCCTGGCCTCTCTACTCCATTTCAATTGAGTATGACAAGAATGACCCAATTTATATGATCAACTTTCACAATACTTTT... | pathogenic | 94,443 |
Does the variant impacting MSH3 (mutS homolog 3) on chromosome 5, position 80665226, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GAAAAAGAAAATGTATTGTTTTGAACGAAGGTTCATTGGTACTTGGAAAATTTGGAGTAACTGGCAAGCTCTGATTAGTGAATGACTGCAATGGGTAAAACTAGCCATAGAGTCACAGCAGGTTGTTTTAGCAGCTATCAGGTAAAATTGGTTTCAGGTTACAGTAGGCAGTTTCAGCAGCTAGGCTTGCAGAGAATTACATTTTTGGAGCAATGATATGTGCTCTCAGTGCTTTTTCCCCTGGCCTCTCTACTCCATTTCAATTGAGTATGACAAGAATGACCCAATTTATATGATCAACTTTCACAATACTTTTTTTT... | GAAAAAGAAAATGTATTGTTTTGAACGAAGGTTCATTGGTACTTGGAAAATTTGGAGTAACTGGCAAGCTCTGATTAGTGAATGACTGCAATGGGTAAAACTAGCCATAGAGTCACAGCAGGTTGTTTTAGCAGCTATCAGGTAAAATTGGTTTCAGGTTACAGTAGGCAGTTTCAGCAGCTAGGCTTGCAGAGAATTACATTTTTGGAGCAATGATATGTGCTCTCAGTGCTTTTTCCCCTGGCCTCTCTACTCCATTTCAATTGAGTATGACAAGAATGACCCAATTTATATGATCAACTTTCACAATACTTTTTTTT... | pathogenic | 94,445 |
Is the genetic variant on chromosome 5, position 80665242, gene MSH3 (mutS homolog 3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_adenomatous_polyposis_4', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTTGAACGAAGGTTCATTGGTACTTGGAAAATTTGGAGTAACTGGCAAGCTCTGATTAGTGAATGACTGCAATGGGTAAAACTAGCCATAGAGTCACAGCAGGTTGTTTTAGCAGCTATCAGGTAAAATTGGTTTCAGGTTACAGTAGGCAGTTTCAGCAGCTAGGCTTGCAGAGAATTACATTTTTGGAGCAATGATATGTGCTCTCAGTGCTTTTTCCCCTGGCCTCTCTACTCCATTTCAATTGAGTATGACAAGAATGACCCAATTTATATGATCAACTTTCACAATACTTTTTTTTTTTTTCCCAGCAAATA... | TGTTTTGAACGAAGGTTCATTGGTACTTGGAAAATTTGGAGTAACTGGCAAGCTCTGATTAGTGAATGACTGCAATGGGTAAAACTAGCCATAGAGTCACAGCAGGTTGTTTTAGCAGCTATCAGGTAAAATTGGTTTCAGGTTACAGTAGGCAGTTTCAGCAGCTAGGCTTGCAGAGAATTACATTTTTGGAGCAATGATATGTGCTCTCAGTGCTTTTTCCCCTGGCCTCTCTACTCCATTTCAATTGAGTATGACAAGAATGACCCAATTTATATGATCAACTTTCACAATACTTTTTTTTTTTTTCCCAGCAAATA... | pathogenic | 94,447 |
Assess the variant on chromosome 5, position 80665296, impacting MSH3 (mutS homolog 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTGATTAGTGAATGACTGCAATGGGTAAAACTAGCCATAGAGTCACAGCAGGTTGTTTTAGCAGCTATCAGGTAAAATTGGTTTCAGGTTACAGTAGGCAGTTTCAGCAGCTAGGCTTGCAGAGAATTACATTTTTGGAGCAATGATATGTGCTCTCAGTGCTTTTTCCCCTGGCCTCTCTACTCCATTTCAATTGAGTATGACAAGAATGACCCAATTTATATGATCAACTTTCACAATACTTTTTTTTTTTTTCCCAGCAAATACAACTCCAAGATCTTCATCCCACTTTCATTCCAGGCAGTTTTTTTTTATGTCTA... | CTGATTAGTGAATGACTGCAATGGGTAAAACTAGCCATAGAGTCACAGCAGGTTGTTTTAGCAGCTATCAGGTAAAATTGGTTTCAGGTTACAGTAGGCAGTTTCAGCAGCTAGGCTTGCAGAGAATTACATTTTTGGAGCAATGATATGTGCTCTCAGTGCTTTTTCCCCTGGCCTCTCTACTCCATTTCAATTGAGTATGACAAGAATGACCCAATTTATATGATCAACTTTCACAATACTTTTTTTTTTTTTCCCAGCAAATACAACTCCAAGATCTTCATCCCACTTTCATTCCAGGCAGTTTTTTTTTATGTCTA... | pathogenic | 94,453 |
Variant on chromosome 5, at position 80670101, affecting MSH3 (mutS homolog 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Endometrial_carcinoma', 'Familial_adenomatous_polyposis_4', 'Hereditary_cancer-predisposing_syndrome'] | GACCCGCAGTGGGTGCTTCTTTCTGCAGGCAGGGCATCCCATCAAGTGAGAAGTGATGAGCCTTCAGCCGAGAGGGGACCCTGGAGTGGGTAGCTCCTCTCCGCAGGCAGGTTGTCTGCTTGTCTCTTCAAGTTTGGCCGAGTCTGGGGATTTGTATGGGCTTGAGAGGAGGAAGTGTGTGCTGATTGGTTCATGGGCTGCCATGGGCGGGCTCAGAAAACACCGTAAGTTCTAATTCTGGTTCGTCAGCCTGGCCCCCAGGCTTCAGGCTGTTCCTGGCTTGAAGGTGGGGCTTCACCCGGACCTGACCCTTTCTGCTC... | GACCCGCAGTGGGTGCTTCTTTCTGCAGGCAGGGCATCCCATCAAGTGAGAAGTGATGAGCCTTCAGCCGAGAGGGGACCCTGGAGTGGGTAGCTCCTCTCCGCAGGCAGGTTGTCTGCTTGTCTCTTCAAGTTTGGCCGAGTCTGGGGATTTGTATGGGCTTGAGAGGAGGAAGTGTGTGCTGATTGGTTCATGGGCTGCCATGGGCGGGCTCAGAAAACACCGTAAGTTCTAATTCTGGTTCGTCAGCCTGGCCCCCAGGCTTCAGGCTGTTCCTGGCTTGAAGGTGGGGCTTCACCCGGACCTGACCCTTTCTGCTC... | pathogenic | 94,466 |
Variant in MSH3 (mutS homolog 3), chromosome 5, position 80670106—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GCAGTGGGTGCTTCTTTCTGCAGGCAGGGCATCCCATCAAGTGAGAAGTGATGAGCCTTCAGCCGAGAGGGGACCCTGGAGTGGGTAGCTCCTCTCCGCAGGCAGGTTGTCTGCTTGTCTCTTCAAGTTTGGCCGAGTCTGGGGATTTGTATGGGCTTGAGAGGAGGAAGTGTGTGCTGATTGGTTCATGGGCTGCCATGGGCGGGCTCAGAAAACACCGTAAGTTCTAATTCTGGTTCGTCAGCCTGGCCCCCAGGCTTCAGGCTGTTCCTGGCTTGAAGGTGGGGCTTCACCCGGACCTGACCCTTTCTGCTCAGGAG... | GCAGTGGGTGCTTCTTTCTGCAGGCAGGGCATCCCATCAAGTGAGAAGTGATGAGCCTTCAGCCGAGAGGGGACCCTGGAGTGGGTAGCTCCTCTCCGCAGGCAGGTTGTCTGCTTGTCTCTTCAAGTTTGGCCGAGTCTGGGGATTTGTATGGGCTTGAGAGGAGGAAGTGTGTGCTGATTGGTTCATGGGCTGCCATGGGCGGGCTCAGAAAACACCGTAAGTTCTAATTCTGGTTCGTCAGCCTGGCCCCCAGGCTTCAGGCTGTTCCTGGCTTGAAGGTGGGGCTTCACCCGGACCTGACCCTTTCTGCTCAGGAG... | pathogenic | 94,471 |
Chromosome 5, position 80670106, gene MSH3 (mutS homolog 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_4', 'Hereditary_cancer-predisposing_syndrome'] | GCAGTGGGTGCTTCTTTCTGCAGGCAGGGCATCCCATCAAGTGAGAAGTGATGAGCCTTCAGCCGAGAGGGGACCCTGGAGTGGGTAGCTCCTCTCCGCAGGCAGGTTGTCTGCTTGTCTCTTCAAGTTTGGCCGAGTCTGGGGATTTGTATGGGCTTGAGAGGAGGAAGTGTGTGCTGATTGGTTCATGGGCTGCCATGGGCGGGCTCAGAAAACACCGTAAGTTCTAATTCTGGTTCGTCAGCCTGGCCCCCAGGCTTCAGGCTGTTCCTGGCTTGAAGGTGGGGCTTCACCCGGACCTGACCCTTTCTGCTCAGGAG... | GCAGTGGGTGCTTCTTTCTGCAGGCAGGGCATCCCATCAAGTGAGAAGTGATGAGCCTTCAGCCGAGAGGGGACCCTGGAGTGGGTAGCTCCTCTCCGCAGGCAGGTTGTCTGCTTGTCTCTTCAAGTTTGGCCGAGTCTGGGGATTTGTATGGGCTTGAGAGGAGGAAGTGTGTGCTGATTGGTTCATGGGCTGCCATGGGCGGGCTCAGAAAACACCGTAAGTTCTAATTCTGGTTCGTCAGCCTGGCCCCCAGGCTTCAGGCTGTTCCTGGCTTGAAGGTGGGGCTTCACCCGGACCTGACCCTTTCTGCTCAGGAG... | pathogenic | 94,472 |
Does the variant impacting MSH3 (mutS homolog 3) on chromosome 5, position 80670115, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GCTTCTTTCTGCAGGCAGGGCATCCCATCAAGTGAGAAGTGATGAGCCTTCAGCCGAGAGGGGACCCTGGAGTGGGTAGCTCCTCTCCGCAGGCAGGTTGTCTGCTTGTCTCTTCAAGTTTGGCCGAGTCTGGGGATTTGTATGGGCTTGAGAGGAGGAAGTGTGTGCTGATTGGTTCATGGGCTGCCATGGGCGGGCTCAGAAAACACCGTAAGTTCTAATTCTGGTTCGTCAGCCTGGCCCCCAGGCTTCAGGCTGTTCCTGGCTTGAAGGTGGGGCTTCACCCGGACCTGACCCTTTCTGCTCAGGAGCCTGTCTGC... | GCTTCTTTCTGCAGGCAGGGCATCCCATCAAGTGAGAAGTGATGAGCCTTCAGCCGAGAGGGGACCCTGGAGTGGGTAGCTCCTCTCCGCAGGCAGGTTGTCTGCTTGTCTCTTCAAGTTTGGCCGAGTCTGGGGATTTGTATGGGCTTGAGAGGAGGAAGTGTGTGCTGATTGGTTCATGGGCTGCCATGGGCGGGCTCAGAAAACACCGTAAGTTCTAATTCTGGTTCGTCAGCCTGGCCCCCAGGCTTCAGGCTGTTCCTGGCTTGAAGGTGGGGCTTCACCCGGACCTGACCCTTTCTGCTCAGGAGCCTGTCTGC... | pathogenic | 94,475 |
Classify the chromosome 5 variant at position 80670183 affecting gene MSH3 (mutS homolog 3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Endometrial_carcinoma'] | GGAGTGGGTAGCTCCTCTCCGCAGGCAGGTTGTCTGCTTGTCTCTTCAAGTTTGGCCGAGTCTGGGGATTTGTATGGGCTTGAGAGGAGGAAGTGTGTGCTGATTGGTTCATGGGCTGCCATGGGCGGGCTCAGAAAACACCGTAAGTTCTAATTCTGGTTCGTCAGCCTGGCCCCCAGGCTTCAGGCTGTTCCTGGCTTGAAGGTGGGGCTTCACCCGGACCTGACCCTTTCTGCTCAGGAGCCTGTCTGCCTCCTGCCGTCATCCATGGCACCCAGGCTGTTTGTGCCATGGGGCACCTGCAGGACAGCTCTGAGCTG... | GGAGTGGGTAGCTCCTCTCCGCAGGCAGGTTGTCTGCTTGTCTCTTCAAGTTTGGCCGAGTCTGGGGATTTGTATGGGCTTGAGAGGAGGAAGTGTGTGCTGATTGGTTCATGGGCTGCCATGGGCGGGCTCAGAAAACACCGTAAGTTCTAATTCTGGTTCGTCAGCCTGGCCCCCAGGCTTCAGGCTGTTCCTGGCTTGAAGGTGGGGCTTCACCCGGACCTGACCCTTTCTGCTCAGGAGCCTGTCTGCCTCCTGCCGTCATCCATGGCACCCAGGCTGTTTGTGCCATGGGGCACCTGCAGGACAGCTCTGAGCTG... | pathogenic | 94,488 |
A genetic variant on chromosome 5, position 80670220, affects the gene MSH3 (mutS homolog 3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_adenomatous_polyposis_4', 'Hereditary_cancer-predisposing_syndrome'] | TTGTCTCTTCAAGTTTGGCCGAGTCTGGGGATTTGTATGGGCTTGAGAGGAGGAAGTGTGTGCTGATTGGTTCATGGGCTGCCATGGGCGGGCTCAGAAAACACCGTAAGTTCTAATTCTGGTTCGTCAGCCTGGCCCCCAGGCTTCAGGCTGTTCCTGGCTTGAAGGTGGGGCTTCACCCGGACCTGACCCTTTCTGCTCAGGAGCCTGTCTGCCTCCTGCCGTCATCCATGGCACCCAGGCTGTTTGTGCCATGGGGCACCTGCAGGACAGCTCTGAGCTGCCCTCAGCCCTCTCCTTGGCCTCCTTCCCATGTTCAT... | TTGTCTCTTCAAGTTTGGCCGAGTCTGGGGATTTGTATGGGCTTGAGAGGAGGAAGTGTGTGCTGATTGGTTCATGGGCTGCCATGGGCGGGCTCAGAAAACACCGTAAGTTCTAATTCTGGTTCGTCAGCCTGGCCCCCAGGCTTCAGGCTGTTCCTGGCTTGAAGGTGGGGCTTCACCCGGACCTGACCCTTTCTGCTCAGGAGCCTGTCTGCCTCCTGCCGTCATCCATGGCACCCAGGCTGTTTGTGCCATGGGGCACCTGCAGGACAGCTCTGAGCTGCCCTCAGCCCTCTCCTTGGCCTCCTTCCCATGTTCAT... | pathogenic | 94,503 |
Does the genetic variant at chromosome 5, position 80670294, impacting gene MSH3 (mutS homolog 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGGGCTGCCATGGGCGGGCTCAGAAAACACCGTAAGTTCTAATTCTGGTTCGTCAGCCTGGCCCCCAGGCTTCAGGCTGTTCCTGGCTTGAAGGTGGGGCTTCACCCGGACCTGACCCTTTCTGCTCAGGAGCCTGTCTGCCTCCTGCCGTCATCCATGGCACCCAGGCTGTTTGTGCCATGGGGCACCTGCAGGACAGCTCTGAGCTGCCCTCAGCCCTCTCCTTGGCCTCCTTCCCATGTTCATCAGTGTCCAAAGTCCAGAGGGGGCCGAGGCAGCAGGGGGCTGGCATGTTAGCACTGCCCTGAGCATGTGCACAC... | TGGGCTGCCATGGGCGGGCTCAGAAAACACCGTAAGTTCTAATTCTGGTTCGTCAGCCTGGCCCCCAGGCTTCAGGCTGTTCCTGGCTTGAAGGTGGGGCTTCACCCGGACCTGACCCTTTCTGCTCAGGAGCCTGTCTGCCTCCTGCCGTCATCCATGGCACCCAGGCTGTTTGTGCCATGGGGCACCTGCAGGACAGCTCTGAGCTGCCCTCAGCCCTCTCCTTGGCCTCCTTCCCATGTTCATCAGTGTCCAAAGTCCAGAGGGGGCCGAGGCAGCAGGGGGCTGGCATGTTAGCACTGCCCTGAGCATGTGCACAC... | pathogenic | 94,516 |
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