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 |
|---|---|---|---|---|---|
Assess the variant on chromosome 7, position 5992028, 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'] | TATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGC... | TATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGC... | pathogenic | 116,186 |
Variant chromosome 7, position 5992071, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease(s)? | benign | TTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTA... | TTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTA... | benign | 116,201 |
Does the chromosome 7 mutation at position 5995512 within gene PMS2 (PMS1 homolog 2, mismatch repair system component) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TCATCATATCAAGATGATCAATTTAAATCTGAGGCAGAAGTAATCTGAGCCCTTATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAAC... | TCATCATATCAAGATGATCAATTTAAATCTGAGGCAGAAGTAATCTGAGCCCTTATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAAC... | benign | 116,207 |
The mutation in gene PMS2 (PMS1 homolog 2, mismatch repair system component) at chromosome 7, position 5995516—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CATATCAAGATGATCAATTTAAATCTGAGGCAGAAGTAATCTGAGCCCTTATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGG... | CATATCAAGATGATCAATTTAAATCTGAGGCAGAAGTAATCTGAGCCCTTATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGG... | benign | 116,208 |
Located at chromosome 7 position 5995534, 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'] | TTAAATCTGAGGCAGAAGTAATCTGAGCCCTTATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTG... | TTAAATCTGAGGCAGAAGTAATCTGAGCCCTTATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTG... | pathogenic | 116,218 |
A genetic variant at chromosome 7, position 5995558, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GAGCCCTTATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTC... | GAGCCCTTATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTC... | pathogenic | 116,223 |
Does the genetic variant at chromosome 7, position 5995563, impacting gene PMS2 (PMS1 homolog 2, mismatch repair system component), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CTTATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCC... | CTTATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCC... | pathogenic | 116,224 |
Variant on chromosome 7, at position 5995566, 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'] | ATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGG... | ATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGG... | pathogenic | 116,225 |
Variant in gene PMS2 (PMS1 homolog 2, mismatch repair system component), located at chromosome 7 position 5995567: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGG... | TTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGG... | pathogenic | 116,227 |
A genetic alteration at chromosome 7, position 5995572, in gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_1', 'Mismatch_repair_cancer_syndrome_4', 'PMS2-related_disorder'] | CTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGA... | CTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGA... | pathogenic | 116,228 |
Clinical significance of chromosome 7, position 5995572, 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_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGA... | CTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGA... | pathogenic | 116,229 |
Benign or pathogenic: chromosome 7, position 5995573, gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'PMS2-related_disorder'] | TAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGAC... | TAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGAC... | pathogenic | 116,231 |
Variant at chromosome position 5995577, 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_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGACAGAG... | AAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGACAGAG... | pathogenic | 116,234 |
Considering the genetic mutation at chromosome 7, position 5995581, 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'] | TAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGACAGAGCGAG... | TAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGACAGAGCGAG... | pathogenic | 116,235 |
Clinically, how would you classify the variant at chromosome 7, position 5995585, 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_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | AAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGACAGAGCGAGACTC... | AAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGACAGAGCGAGACTC... | pathogenic | 116,236 |
The genetic variant at chromosome 7, position 5995607, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAA... | TATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAA... | pathogenic | 116,243 |
Gene mutation in PMS2 (PMS1 homolog 2, mismatch repair system component) at chromosome 7, position 5997314—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GCCTCAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTT... | GCCTCAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTT... | benign | 116,266 |
Determine whether the variant at chromosome 7, position 5997320, 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', 'Lynch_syndrome_4'] | GGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTC... | GGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTC... | pathogenic | 116,267 |
The mutation in gene PMS2 (PMS1 homolog 2, mismatch repair system component) at chromosome 7, position 5997326—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCA... | CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCA... | pathogenic | 116,271 |
Variant at chromosome 7, position 5997326, gene PMS2 (PMS1 homolog 2, mismatch repair system component): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch-like_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_4'] | CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCA... | CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCA... | pathogenic | 116,272 |
Evaluate if the mutation on chromosome 7 at position 5997347 in PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | AGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAA... | AGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAA... | pathogenic | 116,277 |
The mutation in gene PMS2 (PMS1 homolog 2, mismatch repair system component) at chromosome 7, position 5997348—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAA... | GTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAA... | pathogenic | 116,278 |
Clinical classification of chromosome 7, position 5997361, 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_4'] | AGGCATGAGCCACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGAT... | AGGCATGAGCCACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGAT... | pathogenic | 116,285 |
Variant in PMS2 (PMS1 homolog 2, mismatch repair system component), chromosome 7, position 5997371—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAAC... | CACTGCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAAC... | pathogenic | 116,290 |
Considering the genetic mutation at chromosome 7, position 5997375, 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'] | GCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTA... | GCGCCCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTA... | pathogenic | 116,291 |
Determine if the mutation at chromosome 7, position 5997379 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'] | CCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATAT... | CCGGACAGAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATAT... | pathogenic | 116,294 |
Chromosome 7, position 5997386, 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_4'] | GAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGG... | GAAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGG... | pathogenic | 116,295 |
Is the genetic variant on chromosome 7, position 5997387, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | AAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGG... | AAAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGG... | pathogenic | 116,296 |
Is the genetic change at chromosome 7, position 5997388, within 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_4'] | AAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGC... | AAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGC... | pathogenic | 116,297 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 5997388, gene PMS2 (PMS1 homolog 2, mismatch repair system component). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast_and/or_ovarian_cancer', 'Burkitt_lymphoma', 'Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lymphoma', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_1', 'PMS2-related_d... | AAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGC... | AAAGTCTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGC... | pathogenic | 116,299 |
Variant on chromosome 7, at position 5997393, 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'] | CTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGAT... | CTTCAGTTGAAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGAT... | pathogenic | 116,301 |
Variant chromosome 7, position 5997402, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | AAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTG... | AAACATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTG... | pathogenic | 116,303 |
Variant on chromosome 7, at position 5997405, affecting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTGAAA... | CATCTGAAGCTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTGAAA... | pathogenic | 116,304 |
Does the variant impacting PMS2 (PMS1 homolog 2, mismatch repair system component) on chromosome 7, position 5997414, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTGAAAGGGATTAGA... | CTGGGGGCCATCTGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTGAAAGGGATTAGA... | pathogenic | 116,307 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 5997426, gene PMS2 (PMS1 homolog 2, mismatch repair system component). What disease(s) is it linked to if pathogenic? | benign | TGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTGAAAGGGATTAGAAATACGATCACA... | TGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTGAAAGGGATTAGAAATACGATCACA... | benign | 116,315 |
Variant in gene PMS2 (PMS1 homolog 2, mismatch repair system component), located at chromosome 7 position 5997426: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTGAAAGGGATTAGAAATACGATCACA... | TGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTGAAAGGGATTAGAAATACGATCACA... | benign | 116,316 |
The chromosome 7, position 5997426 genetic variant in gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTGAAAGGGATTAGAAATACGATCACA... | TGCGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTGAAAGGGATTAGAAATACGATCACA... | benign | 116,317 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 5997429, gene PMS2 (PMS1 homolog 2, mismatch repair system component). What disease(s) is it linked to if pathogenic? | benign | GGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTGAAAGGGATTAGAAATACGATCACATGG... | GGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTGAAAGGGATTAGAAATACGATCACATGG... | benign | 116,319 |
Is the genetic variant on chromosome 7, position 5999118, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | CGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAG... | CGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAG... | pathogenic | 116,336 |
Variant chromosome 7, position 5999121, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGG... | GTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGG... | pathogenic | 116,337 |
Gene mutation in PMS2 (PMS1 homolog 2, mismatch repair system component) at chromosome 7, position 5999125—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAG... | GGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAG... | pathogenic | 116,341 |
For chromosome 7, position 5999149, 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'] | CTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTG... | CTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTG... | pathogenic | 116,347 |
Chromosome 7, position 5999168, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | AGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAA... | AGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAA... | pathogenic | 116,351 |
Located at chromosome 7 position 5999182, 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'] | AACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTA... | AACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTA... | pathogenic | 116,358 |
Clinical significance of chromosome 7, position 5999214, 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_4'] | ATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTG... | ATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTG... | pathogenic | 116,367 |
Benign or pathogenic: chromosome 7, position 5999219, 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', 'Mismatch_repair_cancer_syndrome_1'] | ACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTC... | ACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTC... | pathogenic | 116,368 |
The chromosome 7, position 5999248 genetic variant in gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTCTTTCTTAGTCAAGCTATTGACATTACAAG... | CAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTCTTTCTTAGTCAAGCTATTGACATTACAAG... | pathogenic | 116,376 |
Determine if the mutation at chromosome 7, position 5999269 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', 'PMS2-related_disorder'] | AAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTCTTTCTTAGTCAAGCTATTGACATTACAAGCGCAAAAAAAATTAAAAGAAT... | AAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTCTTTCTTAGTCAAGCTATTGACATTACAAGCGCAAAAAAAATTAAAAGAAT... | pathogenic | 116,382 |
Is the genetic variant on chromosome 7, position 5999316, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTCTTTCTTAGTCAAGCTATTGACATTACAAGCGCAAAAAAAATTAAAAGAATCTTTTGTTTTGTTTTGTTTTTTGAGACAGGGTCTCCCTCTATTGCCC... | AAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTCTTTCTTAGTCAAGCTATTGACATTACAAGCGCAAAAAAAATTAAAAGAATCTTTTGTTTTGTTTTGTTTTTTGAGACAGGGTCTCCCTCTATTGCCC... | benign | 116,395 |
Variant on chromosome 7, at position 6002451, affecting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | AACTTTCAACCACATACAATTCTGTATTACTTGCATGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTG... | AACTTTCAACCACATACAATTCTGTATTACTTGCATGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTG... | pathogenic | 116,400 |
Evaluate if the mutation on chromosome 7 at position 6002455 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'] | TTCAACCACATACAATTCTGTATTACTTGCATGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTC... | TTCAACCACATACAATTCTGTATTACTTGCATGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTC... | pathogenic | 116,404 |
A genetic variant at chromosome 7, position 6002477, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | TTACTTGCATGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTT... | TTACTTGCATGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTT... | pathogenic | 116,410 |
The mutation in gene PMS2 (PMS1 homolog 2, mismatch repair system component) at chromosome 7, position 6002479—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ACTTGCATGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGG... | ACTTGCATGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGG... | pathogenic | 116,411 |
Evaluate this variant at chromosome 7, position 6002486, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTG... | TGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTG... | pathogenic | 116,413 |
Clinically, how would you classify the variant at chromosome 7, position 6002532, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | TTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCC... | TTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCC... | pathogenic | 116,431 |
A genetic variant at chromosome 7, position 6002538, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCCAACATG... | TTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCCAACATG... | pathogenic | 116,435 |
Is the genetic variant on chromosome 7, position 6002538, 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'] | TTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCCAACATG... | TTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCCAACATG... | pathogenic | 116,436 |
The mutation in gene PMS2 (PMS1 homolog 2, mismatch repair system component) at chromosome 7, position 6002544—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | ATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCCAACATGGTGAAA... | ATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCCAACATGGTGAAA... | pathogenic | 116,440 |
Considering the variant on chromosome 7, location 6002545, 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', 'Lynch_syndrome_4'] | TTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCCAACATGGTGAAAC... | TTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCCAACATGGTGAAAC... | pathogenic | 116,441 |
Is the genetic change at chromosome 7, position 6003691, within 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_4'] | ACAGGTGTGAGCCACTGTGCCTGGCCGAGAAATATTCTTATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCC... | ACAGGTGTGAGCCACTGTGCCTGGCCGAGAAATATTCTTATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCC... | pathogenic | 116,478 |
Is the genetic mutation found on chromosome 7 at position 6003717, 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'] | GAGAAATATTCTTATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCA... | GAGAAATATTCTTATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCA... | pathogenic | 116,486 |
Variant on chromosome 7, at position 6003717, affecting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch-like_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | GAGAAATATTCTTATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCA... | GAGAAATATTCTTATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCA... | pathogenic | 116,487 |
Variant on chromosome 7, at position 6003722, affecting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ATATTCTTATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCA... | ATATTCTTATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCA... | pathogenic | 116,490 |
The genetic variant at chromosome 7, position 6003730, 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'] | ATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGA... | ATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGA... | pathogenic | 116,494 |
Evaluate if the mutation on chromosome 7 at position 6003772 in PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | CTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATT... | CTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATT... | pathogenic | 116,506 |
Evaluate the clinical significance of the mutation at chromosome 7, position 6003772 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATT... | CTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATT... | pathogenic | 116,507 |
The chromosome 7, position 6003775 genetic variant in gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | TAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTT... | TAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTT... | pathogenic | 116,509 |
Regarding the variant at chromosome 7 and position 6003777, 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_4'] | ATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCC... | ATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCC... | pathogenic | 116,512 |
The chromosome 7, position 6003807 genetic variant in gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTT... | AGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTT... | benign | 116,523 |
Located at chromosome 7 position 6003971, 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'] | GTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCC... | GTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCC... | pathogenic | 116,532 |
Determine if the mutation at chromosome 7, position 6003971 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'] | GTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCC... | GTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCC... | pathogenic | 116,533 |
Benign or pathogenic: chromosome 7, position 6003986, gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACA... | AACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACA... | pathogenic | 116,539 |
A genetic variant at chromosome 7, position 6003998, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAA... | GCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAA... | pathogenic | 116,541 |
Does the variant impacting PMS2 (PMS1 homolog 2, mismatch repair system component) on chromosome 7, position 6004001, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAG... | ACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAG... | pathogenic | 116,543 |
Variant on chromosome 7, at position 6004007, affecting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | CTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAA... | CTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAA... | pathogenic | 116,546 |
Variant in PMS2 (PMS1 homolog 2, mismatch repair system component), chromosome 7, position 6004007—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAA... | CTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAA... | pathogenic | 116,547 |
Evaluate the clinical significance of the mutation at chromosome 7, position 6004016 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCAT... | GGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCAT... | pathogenic | 116,552 |
Evaluate this variant at chromosome 7, position 6004039, 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', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | TCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTT... | TCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTT... | pathogenic | 116,557 |
Is the chromosome 7, position 6004044 variant in PMS2 (PMS1 homolog 2, mismatch repair system component) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATC... | AAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATC... | pathogenic | 116,559 |
Assess the variant on chromosome 7, position 6004045, 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'] | AAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCT... | AAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCT... | pathogenic | 116,560 |
Chromosome 7, position 6004048, 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_4'] | GATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTA... | GATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTA... | pathogenic | 116,561 |
Is the chromosome 7, position 6005892 variant in PMS2 (PMS1 homolog 2, mismatch repair system component) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | AAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTAT... | AAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTAT... | pathogenic | 116,579 |
Classify the chromosome 7 variant at position 6005899 affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | ACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTA... | ACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTA... | pathogenic | 116,580 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 6005908, 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'] | CTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACAT... | CTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACAT... | pathogenic | 116,584 |
Gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant at chromosome position 6005912 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms'] | TAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTA... | TAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTA... | pathogenic | 116,585 |
Variant at chromosome 7, position 6005918, gene PMS2 (PMS1 homolog 2, mismatch repair system component): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | GCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCA... | GCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCA... | pathogenic | 116,588 |
Evaluate if the mutation on chromosome 7 at position 6005923 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_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | AAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTG... | AAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTG... | pathogenic | 116,589 |
The mutation in gene PMS2 (PMS1 homolog 2, mismatch repair system component) at chromosome 7, position 6005925—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | AAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTA... | AAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTA... | pathogenic | 116,590 |
The chromosome 7, position 6005932 genetic variant in gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCA... | TTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCA... | pathogenic | 116,592 |
Determine whether the variant at chromosome 7, position 6005938, 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'] | CATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTA... | CATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTA... | pathogenic | 116,595 |
Considering the variant on chromosome 7, location 6005975, 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_colorectal_neoplasms', 'Lynch_syndrome_4'] | TGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAA... | TGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAA... | pathogenic | 116,608 |
For chromosome 7, position 6005985, 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'] | TTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCT... | TTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCT... | pathogenic | 116,610 |
Located at chromosome 7 position 6005999, 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; ['Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCC... | GATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCC... | pathogenic | 116,614 |
Clinical significance of chromosome 7, position 6006003, 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'] | AGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTT... | AGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTT... | pathogenic | 116,617 |
A genetic variant on chromosome 7, position 6006012, 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_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCC... | CAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCC... | pathogenic | 116,618 |
Mutation found at chromosome 7 position 6006021, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4'] | TAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAG... | TAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAG... | pathogenic | 116,620 |
Mutation at chromosome 7, position 6009002, within PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ATAATTTTTCTGCTTAAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACA... | ATAATTTTTCTGCTTAAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACA... | pathogenic | 116,640 |
Variant at chromosome 7, position 6009433, gene AIMP2 (aminoacyl tRNA synthetase complex interacting multifunctional protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Inborn_genetic_diseases', 'Leukodystrophy,_hypomyelinating,_17'] | GGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACA... | GGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACA... | pathogenic | 116,669 |
Chromosome 7, position 6023380, gene AIMP2: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Leukodystrophy,_hypomyelinating,_17'] | CCATCTCAAAAAAAAAAAAAAAAAAAAAGAGAACCCTGATTAGAACATCTTGAAGAGTCTGGAAGGATTACATCATTGAAGAGGCCATCATCGTATAAAAAGCTGTGAAAGCCATCATGGTGAAACAGTACATTCCTCCTGGAGAAACCTGTGTCCAGATGTGCGTGACTTCATAGGATTTACGACAATCAAGGAAACCATGAAATAGATCATAGATGGGGCAAAAGTGGGTGGTGAAGAGTTTCAGGGTATAGATCTTGGAGAAATTCAAGGGCTGACAGACACTGCACAGAAGAATTAACATAAGACAGCTTAATGGA... | CCATCTCAAAAAAAAAAAAAAAAAAAAAGAGAACCCTGATTAGAACATCTTGAAGAGTCTGGAAGGATTACATCATTGAAGAGGCCATCATCGTATAAAAAGCTGTGAAAGCCATCATGGTGAAACAGTACATTCCTCCTGGAGAAACCTGTGTCCAGATGTGCGTGACTTCATAGGATTTACGACAATCAAGGAAACCATGAAATAGATCATAGATGGGGCAAAAGTGGGTGGTGAAGAGTTTCAGGGTATAGATCTTGGAGAAATTCAAGGGCTGACAGACACTGCACAGAAGAATTAACATAAGACAGCTTAATGGA... | pathogenic | 116,678 |
A genetic variant at chromosome 7, position 15561784, affecting gene AGMO (alkylglycerol monooxygenase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CACCAATTAGCAAACTATTGTAGTTATTCAGAGATTTGTGTGACCTGCTCTAGGGAATGGCTACACCCGAGACAGCTATTCTTTCTGAAGCTGGAAGAGACAAAACACAATTTTAATAGAGAACCAGACCATAACTCAGAGTTGGAACCTCAATAAGGCAAATGAAGCACTCATTTCAAAGGGATATCAACAGAGTCAAGATAAATAATGTTTGCGGTGATTTTTTAAATAAGTGCAAAAAATCAATGAAGAACAAAATATCAAAATTTTAAATAATGACATGAACTGAATTTTTTGGGAAAATTTGTGTAAATAAACTA... | CACCAATTAGCAAACTATTGTAGTTATTCAGAGATTTGTGTGACCTGCTCTAGGGAATGGCTACACCCGAGACAGCTATTCTTTCTGAAGCTGGAAGAGACAAAACACAATTTTAATAGAGAACCAGACCATAACTCAGAGTTGGAACCTCAATAAGGCAAATGAAGCACTCATTTCAAAGGGATATCAACAGAGTCAAGATAAATAATGTTTGCGGTGATTTTTTAAATAAGTGCAAAAAATCAATGAAGAACAAAATATCAAAATTTTAAATAATGACATGAACTGAATTTTTTGGGAAAATTTGTGTAAATAAACTA... | benign | 116,707 |
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