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 |
|---|---|---|---|---|---|
Mutation at chromosome 7, position 5982981, within PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GAGTACTCAGTAAACTACACAGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAGTCAGGGTAAAACATTCCAGTTTGGCCGAGGAGAGAGAAATACCAAATTCTGCAGTGACTATCTTAAAATAATTTTTAAATTTTATTTTATTTTATTTATTAATTTAT... | GAGTACTCAGTAAACTACACAGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAGTCAGGGTAAAACATTCCAGTTTGGCCGAGGAGAGAGAAATACCAAATTCTGCAGTGACTATCTTAAAATAATTTTTAAATTTTATTTTATTTTATTTATTAATTTAT... | pathogenic | 115,799 |
Variant chromosome 7, position 5982992, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | AAACTACACAGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAGTCAGGGTAAAACATTCCAGTTTGGCCGAGGAGAGAGAAATACCAAATTCTGCAGTGACTATCTTAAAATAATTTTTAAATTTTATTTTATTTTATTTATTAATTTATTTGTGAGACAG... | AAACTACACAGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAGTCAGGGTAAAACATTCCAGTTTGGCCGAGGAGAGAGAAATACCAAATTCTGCAGTGACTATCTTAAAATAATTTTTAAATTTTATTTTATTTTATTTATTAATTTATTTGTGAGACAG... | pathogenic | 115,805 |
Chromosome 7, position 5983001, gene PMS2 (PMS1 homolog 2, mismatch repair system component): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAGTCAGGGTAAAACATTCCAGTTTGGCCGAGGAGAGAGAAATACCAAATTCTGCAGTGACTATCTTAAAATAATTTTTAAATTTTATTTTATTTTATTTATTAATTTATTTGTGAGACAGAGTCTCACT... | AGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAGTCAGGGTAAAACATTCCAGTTTGGCCGAGGAGAGAGAAATACCAAATTCTGCAGTGACTATCTTAAAATAATTTTTAAATTTTATTTTATTTTATTTATTAATTTATTTGTGAGACAGAGTCTCACT... | benign | 115,811 |
Clinical significance of chromosome 7, position 5986754, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | ACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCAGTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCT... | ACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCAGTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCT... | pathogenic | 115,815 |
Evaluate if the mutation on chromosome 7 at position 5986762 in PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GGCAGAGCTTGCAGTGAGCTGAGATCGTGCCAGTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTG... | GGCAGAGCTTGCAGTGAGCTGAGATCGTGCCAGTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTG... | pathogenic | 115,817 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 5986794, gene PMS2 (PMS1 homolog 2, mismatch repair system component). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | GTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCA... | GTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCA... | pathogenic | 115,827 |
Considering the genetic mutation at chromosome 7, position 5986794, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | GTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCA... | GTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCA... | pathogenic | 115,828 |
Assess the variant on chromosome 7, position 5986807, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAA... | TGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAA... | pathogenic | 115,830 |
Gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant at chromosome 7, position 5986826—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | CTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTA... | CTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTA... | pathogenic | 115,834 |
Is the genetic variant on chromosome 7, position 5986827, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | TTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAA... | TTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAA... | pathogenic | 115,835 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 5986828, gene PMS2 (PMS1 homolog 2, mismatch repair system component). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAAC... | TGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAAC... | pathogenic | 115,836 |
A genetic variant at chromosome 7, position 5986830, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | TCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAG... | TCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAG... | pathogenic | 115,838 |
Chromosome 7, position 5986834, gene PMS2 (PMS1 homolog 2, mismatch repair system component): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | AAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGAC... | AAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGAC... | pathogenic | 115,839 |
For chromosome 7, position 5986840, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | AAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTT... | AAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTT... | pathogenic | 115,842 |
Does the chromosome 7 mutation at position 5986849 within gene PMS2 (PMS1 homolog 2, mismatch repair system component) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGAC... | GAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGAC... | pathogenic | 115,844 |
Located at chromosome 7 position 5986851, the variant affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAG... | GCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAG... | pathogenic | 115,845 |
For chromosome 7, position 5986852, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | CTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGG... | CTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGG... | pathogenic | 115,846 |
The mutation impacting PMS2 (PMS1 homolog 2, mismatch repair system component) on chromosome 7 at position 5986856: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | TATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCT... | TATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCT... | pathogenic | 115,849 |
Variant on chromosome 7, at position 5986878, affecting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | TGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAG... | TGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAG... | pathogenic | 115,854 |
Is the chromosome 7, position 5986888 variant in PMS2 (PMS1 homolog 2, mismatch repair system component) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Lynch_syndrome_4'] | AGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCA... | AGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCA... | pathogenic | 115,857 |
Located at chromosome 7 position 5986890, the variant affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'PMS2-related_disorder'] | ACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATG... | ACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATG... | pathogenic | 115,858 |
Considering the genetic mutation at chromosome 7, position 5986899, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCT... | CATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCT... | pathogenic | 115,861 |
Gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant at chromosome position 5986901 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCA... | TGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCA... | pathogenic | 115,862 |
Evaluate if the mutation on chromosome 7 at position 5986903 in PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACT... | CCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACT... | pathogenic | 115,863 |
Considering the genetic mutation at chromosome 7, position 5986905, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4', 'PMS2-related_disorder'] | ACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGC... | ACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGC... | pathogenic | 115,864 |
A mutation at chromosome position 5986909 on chromosome 7 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCC... | TGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCC... | pathogenic | 115,866 |
A genetic variant on chromosome 7, position 5986911, affects the gene PMS2 (PMS1 homolog 2, mismatch repair system component). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTC... | CTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTC... | pathogenic | 115,868 |
Clinical classification of chromosome 7, position 5986933, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_1', 'likely other unspecified diseases'] | ACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGC... | ACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGC... | pathogenic | 115,872 |
Does the variant impacting PMS2 (PMS1 homolog 2, mismatch repair system component) on chromosome 7, position 5986986, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | CCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACT... | CCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACT... | pathogenic | 115,885 |
Mutation at chromosome 7, position 5986993, within PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | TTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAA... | TTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAA... | pathogenic | 115,887 |
Does the variant impacting PMS2 (PMS1 homolog 2, mismatch repair system component) on chromosome 7, position 5986996, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | CTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTT... | CTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTT... | pathogenic | 115,888 |
Gene mutation in PMS2 (PMS1 homolog 2, mismatch repair system component) at chromosome 7, position 5987008—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | GCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTT... | GCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTT... | pathogenic | 115,891 |
Determine whether the variant at chromosome 7, position 5987019, in gene PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAG... | AGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAG... | pathogenic | 115,892 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 5987021, gene PMS2 (PMS1 homolog 2, mismatch repair system component). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAG... | CTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAG... | pathogenic | 115,893 |
Clinical classification of chromosome 7, position 5987027, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | TCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGG... | TCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGG... | pathogenic | 115,895 |
Considering the genetic mutation at chromosome 7, position 5987033, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | TCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCAT... | TCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCAT... | pathogenic | 115,897 |
Regarding the variant at chromosome 7 and position 5987034, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | CATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATT... | CATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATT... | pathogenic | 115,898 |
A genetic alteration at chromosome 7, position 5987043, in gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | ACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCC... | ACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCC... | pathogenic | 115,901 |
Considering the genetic mutation at chromosome 7, position 5987043, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | ACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCC... | ACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCC... | pathogenic | 115,902 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 5987055, gene PMS2 (PMS1 homolog 2, mismatch repair system component). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | ATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCA... | ATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCA... | pathogenic | 115,906 |
Is the genetic variant on chromosome 7, position 5987058, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | CTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAAC... | CTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAAC... | pathogenic | 115,908 |
Is the genetic mutation found on chromosome 7 at position 5987071, within the gene PMS2 (PMS1 homolog 2, mismatch repair system component), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | TCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAG... | TCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAG... | pathogenic | 115,910 |
Clinical significance of chromosome 7, position 5987125, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_4'] | AAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACC... | AAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACC... | pathogenic | 115,929 |
Determine whether the variant at chromosome 7, position 5987125, in gene PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | AAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACC... | AAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACC... | pathogenic | 115,930 |
Is the genetic mutation found on chromosome 7 at position 5987129, within the gene PMS2 (PMS1 homolog 2, mismatch repair system component), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | CCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGT... | CCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGT... | pathogenic | 115,931 |
Benign or pathogenic: chromosome 7, position 5987158, gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAA... | TTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAA... | pathogenic | 115,941 |
A genetic alteration at chromosome 7, position 5987181, in gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAG... | TGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAG... | pathogenic | 115,949 |
Is the variant located on chromosome 7 at position 5987184, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4', 'PMS2-related_disorder'] | CACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTG... | CACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTG... | pathogenic | 115,950 |
Variant at chromosome position 5987185, chromosome 7, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | ACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGG... | ACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGG... | pathogenic | 115,951 |
Located at chromosome 7 position 5987187, the variant affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTT... | CCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTT... | pathogenic | 115,953 |
Does the variant on chromosome 7 at location 5987188 affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTA... | CAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTA... | pathogenic | 115,954 |
Does the chromosome 7 mutation at position 5987193 within gene PMS2 (PMS1 homolog 2, mismatch repair system component) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTAC... | TGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTAC... | pathogenic | 115,958 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 5987211, gene PMS2 (PMS1 homolog 2, mismatch repair system component): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGG... | TCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGG... | pathogenic | 115,966 |
Does the chromosome 7 mutation at position 5987232 within gene PMS2 (PMS1 homolog 2, mismatch repair system component) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms'] | AACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCT... | AACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCT... | pathogenic | 115,976 |
Mutation at chromosome 7, position 5987249, within PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTC... | GAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTC... | pathogenic | 115,983 |
Does the variant on chromosome 7 at location 5987262 affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAA... | CAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAA... | pathogenic | 115,987 |
Regarding the variant found on chromosome 7 at position 5987264 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACT... | GCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACT... | pathogenic | 115,988 |
Regarding the variant found on chromosome 7 at position 5987264 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | GCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACT... | GCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACT... | pathogenic | 115,989 |
Regarding the variant at chromosome 7 and position 5987276, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | CCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTT... | CCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTT... | pathogenic | 115,993 |
Determine whether the variant at chromosome 7, position 5987279, in gene PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | GGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTT... | GGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTT... | pathogenic | 115,995 |
Evaluate this variant at chromosome 7, position 5987336, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTG... | TAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTG... | pathogenic | 116,015 |
Is the genetic mutation found on chromosome 7 at position 5987345, within the gene PMS2 (PMS1 homolog 2, mismatch repair system component), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | GGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGC... | GGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGC... | pathogenic | 116,018 |
The genetic variant at chromosome 7, position 5987398, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCT... | CCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCT... | pathogenic | 116,033 |
Is the genetic mutation found on chromosome 7 at position 5987432, within the gene PMS2 (PMS1 homolog 2, mismatch repair system component), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | GGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCA... | GGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCA... | pathogenic | 116,045 |
Does the variant impacting PMS2 (PMS1 homolog 2, mismatch repair system component) on chromosome 7, position 5987458, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Lynch_syndrome', 'Mismatch_repair_cancer_syndrome_4'] | GGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATT... | GGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATT... | pathogenic | 116,051 |
For chromosome 7, position 5987483, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCAT... | TACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCAT... | pathogenic | 116,057 |
A genetic alteration at chromosome 7, position 5987485, in gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | CACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGT... | CACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGT... | pathogenic | 116,059 |
A genetic alteration at chromosome 7, position 5987500, in gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCT... | GGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCT... | pathogenic | 116,064 |
The mutation impacting PMS2 (PMS1 homolog 2, mismatch repair system component) on chromosome 7 at position 5987510: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | TACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCA... | TACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCA... | pathogenic | 116,068 |
Clinical significance of chromosome 7, position 5987525, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCA... | TACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCA... | pathogenic | 116,073 |
Variant in gene PMS2 (PMS1 homolog 2, mismatch repair system component), located at chromosome 7 position 5987525: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4', 'PMS2-related_disorder'] | TACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCA... | TACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCA... | pathogenic | 116,074 |
Gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant at chromosome position 5987525 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCA... | TACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCA... | pathogenic | 116,075 |
Determine whether the variant at chromosome 7, position 5987543, in gene PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Mismatch_repair_cancer_syndrome_4'] | TACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAA... | TACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAA... | pathogenic | 116,078 |
Is the genetic change at chromosome 7, position 5987558, within gene PMS2 (PMS1 homolog 2, mismatch repair system component) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_1'] | GAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACA... | GAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACA... | pathogenic | 116,083 |
Determine if the mutation at chromosome 7, position 5987568 in gene PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_1'] | CCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCC... | CCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCC... | pathogenic | 116,088 |
Regarding the variant at chromosome 7 and position 5987579, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAG... | GAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAG... | pathogenic | 116,091 |
Mutation found at chromosome 7 position 5987583, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGA... | TCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGA... | pathogenic | 116,093 |
Is the variant located on chromosome 7 at position 5987600, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_1'] | TTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAG... | TTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAG... | pathogenic | 116,096 |
Gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant at chromosome position 5987610 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms'] | TTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTAC... | TTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTAC... | pathogenic | 116,098 |
A mutation at chromosome position 5987613 on chromosome 7 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCA... | TTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCA... | pathogenic | 116,099 |
Regarding the variant found on chromosome 7 at position 5987617 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCA... | TTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCA... | pathogenic | 116,102 |
Variant in gene PMS2 (PMS1 homolog 2, mismatch repair system component), located at chromosome 7 position 5989798: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAA... | GTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAA... | pathogenic | 116,116 |
Assess the variant on chromosome 7, position 5989821, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Malignant_tumor_of_breast', 'Mismatch_repair_cancer_syndrome_4'] | GGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGC... | GGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGC... | pathogenic | 116,125 |
A genetic alteration at chromosome 7, position 5989826, in gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATAT... | GGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATAT... | pathogenic | 116,127 |
A genetic variant on chromosome 7, position 5989831, affects the gene PMS2 (PMS1 homolog 2, mismatch repair system component). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | GGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCA... | GGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCA... | pathogenic | 116,129 |
Assess the variant on chromosome 7, position 5989831, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCA... | GGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCA... | pathogenic | 116,130 |
Clinically, how would you classify the variant at chromosome 7, position 5989867, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | CCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACA... | CCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACA... | pathogenic | 116,137 |
Does the chromosome 7 mutation at position 5989872 within gene PMS2 (PMS1 homolog 2, mismatch repair system component) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGC... | GCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGC... | pathogenic | 116,138 |
Is the genetic mutation found on chromosome 7 at position 5989875, within the gene PMS2 (PMS1 homolog 2, mismatch repair system component), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCA... | GGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCA... | pathogenic | 116,139 |
Is the genetic mutation found on chromosome 7 at position 5989876, within the gene PMS2 (PMS1 homolog 2, mismatch repair system component), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | GGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCAC... | GGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCAC... | pathogenic | 116,140 |
Evaluate if the mutation on chromosome 7 at position 5989890 in PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Colon_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | GCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCA... | GCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCA... | pathogenic | 116,143 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 5989891, gene PMS2 (PMS1 homolog 2, mismatch repair system component): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAA... | CTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAA... | pathogenic | 116,145 |
Regarding the variant found on chromosome 7 at position 5989895 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGG... | GAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGG... | pathogenic | 116,147 |
The genetic variant at chromosome 7, position 5989922, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | GTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATG... | GTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATG... | pathogenic | 116,154 |
Determine if the mutation at chromosome 7, position 5989926 in gene PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | AACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACC... | AACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACC... | pathogenic | 116,156 |
Considering the variant on chromosome 7, location 5989933, involving gene PMS2 (PMS1 homolog 2, mismatch repair system component), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer'] | TTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACA... | TTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACA... | pathogenic | 116,160 |
Variant on chromosome 7, at position 5989934, affecting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAG... | TTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAG... | pathogenic | 116,161 |
Does the genetic variant at chromosome 7, position 5989974, impacting gene PMS2 (PMS1 homolog 2, mismatch repair system component), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGA... | ATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGA... | benign | 116,170 |
Classify the chromosome 7 variant at position 5992000 affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAG... | CATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAG... | pathogenic | 116,178 |
Assess the variant on chromosome 7, position 5992012, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | AAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTAC... | AAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTAC... | pathogenic | 116,181 |
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