question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37047667: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Mismatch_repair_cancer_syndrome_1', 'Muir-Torré_syndrome'] | ATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGA... | ATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGA... | pathogenic | 65,111 |
Chromosome 3, position 37047670, gene MLH1 (mutL homolog 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCT... | TTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCT... | pathogenic | 65,115 |
Variant on chromosome 3, at position 37047670, affecting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCT... | TTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCT... | pathogenic | 65,116 |
The chromosome 3, position 37047672 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCA... | CTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCA... | pathogenic | 65,117 |
Chromosome 3, position 37047675, gene MLH1 (mutL homolog 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGT... | TTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGT... | pathogenic | 65,118 |
Does the genetic variant at chromosome 3, position 37047679, impacting gene MLH1 (mutL homolog 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Lynch_syndrome'] | ATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATC... | ATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATC... | pathogenic | 65,120 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37047682: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | GATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCAC... | GATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCAC... | pathogenic | 65,122 |
Chromosome 3, position 37048489, gene MLH1 (mutL homolog 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | GTTGATAGTGATGCCCAAGTCTCCTGTATCTTTACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCAC... | GTTGATAGTGATGCCCAAGTCTCCTGTATCTTTACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCAC... | pathogenic | 65,135 |
The chromosome 3, position 37048507 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GTCTCCTGTATCTTTACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTT... | GTCTCCTGTATCTTTACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTT... | benign | 65,141 |
The mutation in gene MLH1 (mutL homolog 1) at chromosome 3, position 37048519—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TTTACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGT... | TTTACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGT... | pathogenic | 65,145 |
Chromosome 3, position 37048522, gene MLH1 (mutL homolog 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lynch_syndrome'] | ACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGA... | ACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGA... | pathogenic | 65,147 |
Variant on chromosome 3, at position 37048524, affecting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGA... | TGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGA... | pathogenic | 65,148 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37048530: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGT... | TCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGT... | pathogenic | 65,151 |
Regarding the variant found on chromosome 3 at position 37048533 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Lynch_syndrome'] | GCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTC... | GCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTC... | pathogenic | 65,153 |
The chromosome 3, position 37048534 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Lynch_syndrome'] | CCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCA... | CCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCA... | pathogenic | 65,154 |
Is the genetic mutation found on chromosome 3 at position 37048537, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCA... | GTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCA... | pathogenic | 65,156 |
A genetic alteration at chromosome 3, position 37048537, in gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCA... | GTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCA... | pathogenic | 65,158 |
Evaluate if the mutation on chromosome 3 at position 37048540 in MLH1 (mutL homolog 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | CTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGT... | CTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGT... | pathogenic | 65,163 |
Does the chromosome 3 mutation at position 37048541 within gene MLH1 (mutL homolog 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Carcinoma_of_colon', 'Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Muir-Torré_syndrome'] | TGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTT... | TGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTT... | pathogenic | 65,164 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37048547: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAG... | TGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAG... | pathogenic | 65,167 |
Regarding the variant found on chromosome 3 at position 37048549 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Lynch_syndrome'] | AGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGA... | AGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGA... | pathogenic | 65,169 |
Mutation found at chromosome 3 position 37048557, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCG... | GTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCG... | pathogenic | 65,171 |
The chromosome 3, position 37048561 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | TGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCT... | TGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCT... | pathogenic | 65,174 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 37048561, gene MLH1 (mutL homolog 1): what disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCT... | TGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCT... | pathogenic | 65,175 |
Variant at chromosome 3, position 37048569, gene MLH1 (mutL homolog 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Lynch_syndrome'] | CCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGT... | CCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGT... | pathogenic | 65,182 |
For chromosome 3, position 37048572, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | ACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGAT... | ACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGAT... | pathogenic | 65,184 |
Does the variant on chromosome 3 at location 37048576 affecting gene MLH1 (mutL homolog 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | TAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGC... | TAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGC... | pathogenic | 65,186 |
Considering the variant on chromosome 3, location 37048588, involving gene MLH1 (mutL homolog 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCT... | GTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCT... | pathogenic | 65,193 |
Evaluate if the mutation on chromosome 3 at position 37048589 in MLH1 (mutL homolog 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | TCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTC... | TCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTC... | pathogenic | 65,194 |
Evaluate the clinical significance of the mutation at chromosome 3, position 37048594 in gene MLH1 (mutL homolog 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Lynch_syndrome'] | TCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAA... | TCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAA... | pathogenic | 65,195 |
Located at chromosome 3 position 37048595, the variant affecting gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Lynch_syndrome'] | CTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAG... | CTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAG... | pathogenic | 65,197 |
Assess the variant on chromosome 3, position 37048601, impacting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGG... | GCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGG... | pathogenic | 65,203 |
Determine if the mutation at chromosome 3, position 37048605 in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATT... | TTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATT... | pathogenic | 65,206 |
Clinical classification of chromosome 3, position 37048606, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | TCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTA... | TCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTA... | pathogenic | 65,208 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 37048607, gene MLH1 (mutL homolog 1): what disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | CTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTAC... | CTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTAC... | pathogenic | 65,209 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37048608: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACA... | TCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACA... | pathogenic | 65,210 |
Gene mutation in MLH1 (mutL homolog 1) at chromosome 3, position 37048626—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACC... | TATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACC... | benign | 65,223 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 37048887—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Lynch_syndrome'] | GTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTC... | GTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTC... | pathogenic | 65,231 |
Mutation found at chromosome 3 position 37048913, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Lynch_syndrome'] | AGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCA... | AGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCA... | pathogenic | 65,243 |
Considering the genetic mutation at chromosome 3, position 37048916, impacting MLH1 (mutL homolog 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | GCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTA... | GCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTA... | pathogenic | 65,245 |
A mutation at chromosome position 37048919 on chromosome 3 in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAA... | GGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAA... | pathogenic | 65,247 |
For chromosome 3, position 37048919, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | GGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAA... | GGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAA... | pathogenic | 65,248 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 37048929, gene MLH1 (mutL homolog 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATC... | GCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATC... | pathogenic | 65,251 |
Variant at chromosome position 37048943, chromosome 3, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTC... | ACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTC... | pathogenic | 65,257 |
Evaluate the clinical significance of the mutation at chromosome 3, position 37048943 in gene MLH1 (mutL homolog 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms'] | ACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTC... | ACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTC... | pathogenic | 65,258 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37048943 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTC... | ACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTC... | pathogenic | 65,259 |
Chromosome 3, position 37048956, gene MLH1 (mutL homolog 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAA... | ATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAA... | pathogenic | 65,268 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 37048956, gene MLH1 (mutL homolog 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | ATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAA... | ATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAA... | pathogenic | 65,270 |
Variant chromosome 3, position 37048971, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGG... | TATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGG... | pathogenic | 65,275 |
Clinically, how would you classify the variant at chromosome 3, position 37048979, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Lynch_syndrome'] | ACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAG... | ACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAG... | pathogenic | 65,282 |
A genetic variant at chromosome 3, position 37048982, affecting gene MLH1 (mutL homolog 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAA... | TAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAA... | pathogenic | 65,284 |
Mutation at chromosome 3, position 37048984, within MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGA... | AACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGA... | pathogenic | 65,286 |
Gene mutation in MLH1 (mutL homolog 1) at chromosome 3, position 37048985—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | ACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAA... | ACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAA... | pathogenic | 65,288 |
Is the chromosome 3, position 37048985 variant in MLH1 (mutL homolog 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | ACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAA... | ACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAA... | pathogenic | 65,289 |
Considering the variant on chromosome 3, location 37048989, involving gene MLH1 (mutL homolog 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | TTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTA... | TTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTA... | pathogenic | 65,291 |
A genetic variant at chromosome 3, position 37048992, affecting gene MLH1 (mutL homolog 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | GGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCT... | GGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCT... | pathogenic | 65,292 |
Is the genetic variant on chromosome 3, position 37049000, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGG... | ATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGG... | pathogenic | 65,297 |
Is the genetic mutation found on chromosome 3 at position 37049002, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCT... | ATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCT... | pathogenic | 65,300 |
Regarding the variant found on chromosome 3 at position 37049005 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCA... | CTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCA... | pathogenic | 65,302 |
Clinical significance of chromosome 3, position 37049008, gene MLH1 (mutL homolog 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCC... | TTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCC... | pathogenic | 65,305 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37049012: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Lynch_syndrome'] | TAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCC... | TAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCC... | pathogenic | 65,307 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37049014 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | ATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCA... | ATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCA... | pathogenic | 65,308 |
Mutation found at chromosome 3 position 37049025, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATCCTTTCAGCA... | TATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATCCTTTCAGCA... | benign | 65,319 |
The genetic variant at chromosome 3, position 37050483, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TGGGAAAGCACTGGAGAAATGGGATTTGTTTAAACTATGACAGCATTATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCAT... | TGGGAAAGCACTGGAGAAATGGGATTTGTTTAAACTATGACAGCATTATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCAT... | pathogenic | 65,335 |
Is the variant located on chromosome 3 at position 37050486, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Lynch_syndrome'] | GAAAGCACTGGAGAAATGGGATTTGTTTAAACTATGACAGCATTATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCC... | GAAAGCACTGGAGAAATGGGATTTGTTTAAACTATGACAGCATTATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCC... | pathogenic | 65,341 |
Is the chromosome 3, position 37050490 variant in MLH1 (mutL homolog 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Mismatch_repair_cancer_syndrome_1', 'Muir-Torré_syndrome'] | GCACTGGAGAAATGGGATTTGTTTAAACTATGACAGCATTATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGC... | GCACTGGAGAAATGGGATTTGTTTAAACTATGACAGCATTATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGC... | pathogenic | 65,342 |
Evaluate the clinical significance of the mutation at chromosome 3, position 37050491 in gene MLH1 (mutL homolog 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Lynch_syndrome'] | CACTGGAGAAATGGGATTTGTTTAAACTATGACAGCATTATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCA... | CACTGGAGAAATGGGATTTGTTTAAACTATGACAGCATTATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCA... | pathogenic | 65,343 |
For chromosome 3, position 37050516, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ACTATGACAGCATTATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTT... | ACTATGACAGCATTATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTT... | pathogenic | 65,350 |
A genetic alteration at chromosome 3, position 37050518, in gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TATGACAGCATTATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTT... | TATGACAGCATTATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTT... | pathogenic | 65,353 |
Evaluate the clinical significance of the mutation at chromosome 3, position 37050526 in gene MLH1 (mutL homolog 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | CATTATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTA... | CATTATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTA... | pathogenic | 65,356 |
The genetic variant at chromosome 3, position 37050529, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAG... | TATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAG... | pathogenic | 65,358 |
A genetic variant at chromosome 3, position 37050530, affecting gene MLH1 (mutL homolog 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Lynch_syndrome'] | ATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGT... | ATTTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGT... | pathogenic | 65,360 |
Regarding the variant at chromosome 3 and position 37050532, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Lynch_syndrome', 'Lynch_syndrome_1'] | TTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTAT... | TTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTAT... | pathogenic | 65,361 |
A mutation at chromosome position 37050532 on chromosome 3 in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTAT... | TTCTTGTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTAT... | pathogenic | 65,362 |
Assess the variant on chromosome 3, position 37050537, impacting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACAT... | GTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACAT... | pathogenic | 65,366 |
Classify the chromosome 3 variant at position 37050540 affecting gene MLH1 (mutL homolog 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTC... | CCCTTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTC... | pathogenic | 65,368 |
Regarding the variant found on chromosome 3 at position 37050543 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer'] | TTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTT... | TTGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTT... | pathogenic | 65,371 |
Is chromosome 3, position 37050544, gene MLH1 (mutL homolog 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTT... | TGTCCTTTTTCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTT... | pathogenic | 65,372 |
The genetic variant at chromosome 3, position 37050553, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2'] | TCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTT... | TCCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTT... | pathogenic | 65,377 |
A genetic variant at chromosome 3, position 37050554, affecting gene MLH1 (mutL homolog 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTA... | CCTGCAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTA... | pathogenic | 65,379 |
The chromosome 3, position 37050558 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | CAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTA... | CAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTA... | pathogenic | 65,381 |
Determine whether the variant at chromosome 3, position 37050558, in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | CAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTA... | CAAGCAGGAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTA... | pathogenic | 65,382 |
Is the genetic change at chromosome 3, position 37050566, within gene MLH1 (mutL homolog 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | AAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGA... | AAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGA... | pathogenic | 65,387 |
Variant chromosome 3, position 37050571, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s)? | pathogenic; ['Carcinoma_of_colon', 'Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCC... | AACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCC... | pathogenic | 65,389 |
Considering the genetic mutation at chromosome 3, position 37050575, impacting MLH1 (mutL homolog 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTT... | TGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTT... | pathogenic | 65,392 |
A genetic variant on chromosome 3, position 37050575, affects the gene MLH1 (mutL homolog 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1', 'Mismatch_repair_cancer_syndrome_1', 'Muir-Torré_syndrome'] | TGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTT... | TGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTT... | pathogenic | 65,393 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 37050575—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTT... | TGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTT... | pathogenic | 65,394 |
The genetic variant at chromosome 3, position 37050599, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTA... | ACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTA... | pathogenic | 65,402 |
A mutation at chromosome position 37050600 on chromosome 3 in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTAC... | CAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTAC... | pathogenic | 65,403 |
Variant at chromosome 3, position 37050601, gene MLH1 (mutL homolog 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACC... | AACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACC... | pathogenic | 65,404 |
Is the genetic mutation found on chromosome 3 at position 37050604, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Lynch_syndrome'] | TATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTAT... | TATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTAT... | pathogenic | 65,407 |
Variant at chromosome 3, position 37050605, gene MLH1 (mutL homolog 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Lynch_syndrome'] | ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATT... | ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATT... | pathogenic | 65,409 |
Clinical classification of chromosome 3, position 37050616, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTG... | TTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTG... | pathogenic | 65,411 |
Clinical classification of chromosome 3, position 37050626, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTG... | TGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTG... | pathogenic | 65,414 |
For chromosome 3, position 37050630, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACC... | TATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACC... | pathogenic | 65,416 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 37050630—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | TATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACC... | TATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACC... | pathogenic | 65,417 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37050632: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAG... | TCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAG... | pathogenic | 65,418 |
Variant on chromosome 3, at position 37050632, affecting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Carcinoma_of_colon', 'Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1', 'Muir-Torré_syndrome'] | TCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAG... | TCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAG... | pathogenic | 65,419 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37050638: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAAT... | TTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAAT... | pathogenic | 65,424 |
Determine if the mutation at chromosome 3, position 37050641 in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGG... | TTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGG... | pathogenic | 65,425 |
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