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
Clinically, how would you classify the variant at chromosome 2, position 47805735, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, specify the associated illness(es).
benign
TAACTGATTCTTAAAGTTTTGTTATCAGAAAGTCATTTGTGACATTAGGAATAACATACTTAGGTGATCATTTTCCAAACACAGTTACATAAAAGTCAGCCAGTGACTTAATAGGAAGCAAAGGGAAATTACTCCCTGTGTTATAAAATTGAGAATTATATTTAGCTGAAACATCGATGCTTAATGTTAAGGGGAATATATGTTAAAAAGGGGAAGGAGGTCAGTCATTCAGGTCATGAGGCCCTTTGACTTGAATTCATTTCCTCAGAAGGTAGGTATATTCATAGTGAACAAAAATACAAAGGCTGTATGAAAAGATG...
TAACTGATTCTTAAAGTTTTGTTATCAGAAAGTCATTTGTGACATTAGGAATAACATACTTAGGTGATCATTTTCCAAACACAGTTACATAAAAGTCAGCCAGTGACTTAATAGGAAGCAAAGGGAAATTACTCCCTGTGTTATAAAATTGAGAATTATATTTAGCTGAAACATCGATGCTTAATGTTAAGGGGAATATATGTTAAAAAGGGGAAGGAGGTCAGTCATTCAGGTCATGAGGCCCTTTGACTTGAATTCATTTCCTCAGAAGGTAGGTATATTCATAGTGAACAAAAATACAAAGGCTGTATGAAAAGATG...
benign
37,066
The chromosome 2, position 47805735 genetic variant in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate disease(s).
benign
TAACTGATTCTTAAAGTTTTGTTATCAGAAAGTCATTTGTGACATTAGGAATAACATACTTAGGTGATCATTTTCCAAACACAGTTACATAAAAGTCAGCCAGTGACTTAATAGGAAGCAAAGGGAAATTACTCCCTGTGTTATAAAATTGAGAATTATATTTAGCTGAAACATCGATGCTTAATGTTAAGGGGAATATATGTTAAAAAGGGGAAGGAGGTCAGTCATTCAGGTCATGAGGCCCTTTGACTTGAATTCATTTCCTCAGAAGGTAGGTATATTCATAGTGAACAAAAATACAAAGGCTGTATGAAAAGATG...
TAACTGATTCTTAAAGTTTTGTTATCAGAAAGTCATTTGTGACATTAGGAATAACATACTTAGGTGATCATTTTCCAAACACAGTTACATAAAAGTCAGCCAGTGACTTAATAGGAAGCAAAGGGAAATTACTCCCTGTGTTATAAAATTGAGAATTATATTTAGCTGAAACATCGATGCTTAATGTTAAGGGGAATATATGTTAAAAAGGGGAAGGAGGTCAGTCATTCAGGTCATGAGGCCCTTTGACTTGAATTCATTTCCTCAGAAGGTAGGTATATTCATAGTGAACAAAAATACAAAGGCTGTATGAAAAGATG...
benign
37,067
Does the chromosome 2 mutation at position 47806133 within gene MSH6 (mutS homolog 6) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
benign
ACCTCTAGCAACTGTTGAAAACTGCTCTTTAGGGATGACATGCTGGCCCTTTTTTTTTTGTTGTTGCCAAGGCTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGT...
ACCTCTAGCAACTGTTGAAAACTGCTCTTTAGGGATGACATGCTGGCCCTTTTTTTTTTGTTGTTGCCAAGGCTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGT...
benign
37,069
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 47806189, gene MSH6 (mutS homolog 6). What disease(s) is it linked to if pathogenic?
benign
TTTGTTGTTGCCAAGGCTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGA...
TTTGTTGTTGCCAAGGCTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGA...
benign
37,072
Gene mutation in MSH6 (mutS homolog 6) at chromosome 2, position 47806190—is it benign or pathogenic? If pathogenic, specify the disease(s).
benign
TTGTTGTTGCCAAGGCTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAG...
TTGTTGTTGCCAAGGCTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAG...
benign
37,074
Located at chromosome 2 position 47806197, the variant affecting gene MSH6 (mutS homolog 6)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome']
TGCCAAGGCTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTAT...
TGCCAAGGCTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTAT...
pathogenic
37,078
The genetic variant at chromosome 2, position 47806202, affecting gene MSH6 (mutS homolog 6): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
AGGCTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGT...
AGGCTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGT...
pathogenic
37,081
Mutation found at chromosome 2 position 47806205, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
CTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTA...
CTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTA...
pathogenic
37,084
Located at chromosome 2 position 47806210, the variant affecting gene MSH6 (mutS homolog 6)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome']
GTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTG...
GTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTG...
pathogenic
37,085
Does the variant on chromosome 2 at location 47806216 affecting gene MSH6 (mutS homolog 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5']
TGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCC...
TGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCC...
pathogenic
37,089
Clinical classification of chromosome 2, position 47806234, gene MSH6 (mutS homolog 6): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome']
CTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATC...
CTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATC...
pathogenic
37,093
Regarding the variant found on chromosome 2 at position 47806239 in gene MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5']
GCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAAT...
GCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAAT...
pathogenic
37,094
Clinically, how would you classify the variant at chromosome 2, position 47806246, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Endometrial_carcinoma', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome']
ACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGA...
ACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGA...
pathogenic
37,096
Is the genetic mutation found on chromosome 2 at position 47806247, within the gene MSH6 (mutS homolog 6), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
CTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAA...
CTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAA...
pathogenic
37,100
Is chromosome 2, position 47806249, gene MSH6 (mutS homolog 6) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
CCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAG...
CCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAG...
pathogenic
37,101
Chromosome 2, position 47806251, gene MSH6 (mutS homolog 6): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
CAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAA...
CAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAA...
pathogenic
37,103
Evaluate the clinical significance of the mutation at chromosome 2, position 47806253 in gene MSH6 (mutS homolog 6): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
GGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATG...
GGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATG...
pathogenic
37,105
Clinically, how would you classify the variant at chromosome 2, position 47806253, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
GGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATG...
GGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATG...
pathogenic
37,106
Determine whether the variant at chromosome 2, position 47806253, in gene MSH6 (mutS homolog 6) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5', 'Mismatch_repair_cancer_syndrome_3']
GGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATG...
GGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATG...
pathogenic
37,107
A genetic variant at chromosome 2, position 47806253, affecting gene MSH6 (mutS homolog 6)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5']
GGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATG...
GGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATG...
pathogenic
37,108
Gene MSH6 (mutS homolog 6) variant at chromosome 2, position 47806253—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
GGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATG...
GGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATG...
pathogenic
37,109
Is chromosome 2, position 47806253, gene MSH6 (mutS homolog 6) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5', 'MSH6-related_disorder']
GGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATG...
GGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATG...
pathogenic
37,110
Is the genetic change at chromosome 2, position 47806255, within gene MSH6 (mutS homolog 6) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome']
TTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTG...
TTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTG...
pathogenic
37,111
The genetic variant at chromosome 2, position 47806262, affecting gene MSH6 (mutS homolog 6): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5']
CTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGT...
CTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGT...
pathogenic
37,114
A mutation at chromosome position 47806265 on chromosome 2 in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
CCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTA...
CCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTA...
pathogenic
37,116
Classify the chromosome 2 variant at position 47806270 affecting gene MSH6 (mutS homolog 6) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5']
TGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAA...
TGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAA...
pathogenic
37,118
Chromosome 2, position 47806270, gene MSH6 (mutS homolog 6): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
TGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAA...
TGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAA...
pathogenic
37,119
Does the chromosome 2 mutation at position 47806271 within gene MSH6 (mutS homolog 6) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome']
GCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAA...
GCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAA...
pathogenic
37,123
A genetic variant at chromosome 2, position 47806272, affecting gene MSH6 (mutS homolog 6)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
CCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAA...
CCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAA...
pathogenic
37,124
Gene MSH6 (mutS homolog 6) variant at chromosome 2, position 47806273—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
CTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAA...
CTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAA...
pathogenic
37,125
Variant at chromosome position 47806278, chromosome 2, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch-like_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_5']
CCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAA...
CCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAA...
pathogenic
37,127
Does the genetic variant at chromosome 2, position 47806279, impacting gene MSH6 (mutS homolog 6), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_5']
CTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAA...
CTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAA...
pathogenic
37,128
Does the genetic variant at chromosome 2, position 47806285, impacting gene MSH6 (mutS homolog 6), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5']
AGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCA...
AGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCA...
pathogenic
37,131
Does the chromosome 2 mutation at position 47806285 within gene MSH6 (mutS homolog 6) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
AGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCA...
AGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCA...
pathogenic
37,132
Is chromosome 2, position 47806286, gene MSH6 (mutS homolog 6) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Breast_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
GTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAG...
GTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAG...
pathogenic
37,133
Determine if the mutation at chromosome 2, position 47806288 in gene MSH6 (mutS homolog 6) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
AGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAG...
AGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAG...
pathogenic
37,135
Does the chromosome 2 mutation at position 47806292 within gene MSH6 (mutS homolog 6) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
GGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTC...
GGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTC...
pathogenic
37,137
Mutation found at chromosome 2 position 47806292, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
GGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTC...
GGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTC...
pathogenic
37,138
Determine if the mutation at chromosome 2, position 47806295 in gene MSH6 (mutS homolog 6) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5']
ACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCAT...
ACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCAT...
pathogenic
37,140
Located at chromosome 2 position 47806295, the variant affecting gene MSH6 (mutS homolog 6)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_nonpolyposis_colorectal_neoplasms']
ACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCAT...
ACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCAT...
pathogenic
37,141
A genetic alteration at chromosome 2, position 47806296, in gene MSH6 (mutS homolog 6)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'likely other unspecified diseases']
CTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATC...
CTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATC...
pathogenic
37,142
Regarding the variant at chromosome 2 and position 47806297, affecting gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms']
TACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCC...
TACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCC...
pathogenic
37,143
Does the chromosome 2 mutation at position 47806300 within gene MSH6 (mutS homolog 6) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5', 'Mismatch_repair_cancer_syndrome_3']
AGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGA...
AGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGA...
pathogenic
37,144
Gene MSH6 (mutS homolog 6) variant at chromosome position 47806302 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
ATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACA...
ATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACA...
pathogenic
37,146
A mutation at chromosome position 47806309 on chromosome 2 in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
CCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTC...
CCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTC...
pathogenic
37,149
Does the variant on chromosome 2 at location 47806309 affecting gene MSH6 (mutS homolog 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Lynch_syndrome_5']
CCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTC...
CCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTC...
pathogenic
37,150
Assess the variant on chromosome 2, position 47806314, impacting MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Lynch_syndrome']
ATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTG...
ATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTG...
pathogenic
37,153
Evaluate if the mutation on chromosome 2 at position 47806317 in MSH6 (mutS homolog 6) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
CCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATT...
CCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATT...
pathogenic
37,155
Gene mutation in MSH6 (mutS homolog 6) at chromosome 2, position 47806321—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
GCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAA...
GCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAA...
pathogenic
37,158
Regarding the variant at chromosome 2 and position 47806321, affecting gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
GCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAA...
GCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAA...
pathogenic
37,159
Is the variant located on chromosome 2 at position 47806322, gene MSH6 (mutS homolog 6), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms']
CTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAAT...
CTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAAT...
pathogenic
37,161
Considering the variant on chromosome 2, location 47806329, involving gene MSH6 (mutS homolog 6), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5', 'Mismatch_repair_cancer_syndrome_3']
TTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCT...
TTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCT...
pathogenic
37,165
Gene MSH6 (mutS homolog 6) variant at chromosome 2, position 47806332—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Papillary_carcinoma_of_the_corpus_uteri']
AAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGG...
AAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGG...
pathogenic
37,166
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 47806344, gene MSH6 (mutS homolog 6): what disease(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
ATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGT...
ATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGT...
pathogenic
37,169
Variant at chromosome position 47806344, chromosome 2, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
ATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGT...
ATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGT...
pathogenic
37,170
A genetic variant on chromosome 2, position 47806348, affects the gene MSH6 (mutS homolog 6). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
CATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTA...
CATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTA...
pathogenic
37,173
Is chromosome 2, position 47806348, gene MSH6 (mutS homolog 6) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
CATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTA...
CATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTA...
pathogenic
37,174
Variant in gene MSH6 (mutS homolog 6), located at chromosome 2 position 47806349: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5']
ATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAA...
ATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAA...
pathogenic
37,177
Does the genetic variant at chromosome 2, position 47806351, impacting gene MSH6 (mutS homolog 6), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Lynch_syndrome']
TGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAG...
TGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAG...
pathogenic
37,179
For chromosome 2, position 47806352, gene MSH6 (mutS homolog 6): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
GTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGA...
GTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGA...
pathogenic
37,181
Is the chromosome 2, position 47806353 variant in MSH6 (mutS homolog 6) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5']
TATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAG...
TATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAG...
pathogenic
37,182
Evaluate this variant at chromosome 2, position 47806354, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
ATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGC...
ATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGC...
pathogenic
37,183
Evaluate this variant at chromosome 2, position 47806354, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
ATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGC...
ATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGC...
pathogenic
37,184
Gene mutation in MSH6 (mutS homolog 6) at chromosome 2, position 47806357—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
TATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCC...
TATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCC...
pathogenic
37,186
Does the variant on chromosome 2 at location 47806369 affecting gene MSH6 (mutS homolog 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
benign
ATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTA...
ATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTA...
benign
37,193
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 47806369, gene MSH6 (mutS homolog 6): what disease(s) if pathogenic?
benign
ATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTA...
ATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTA...
benign
37,194
The chromosome 2, position 47806371 genetic variant in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate disease(s).
benign
AACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATT...
AACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATT...
benign
37,195
Benign or pathogenic: chromosome 2, position 47806372, gene MSH6 (mutS homolog 6) variant? Disease(s) if pathogenic?
benign
ACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTC...
ACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTC...
benign
37,196
Does the genetic variant at chromosome 2, position 47806407, impacting gene MSH6 (mutS homolog 6), appear benign or pathogenic? If pathogenic, name the associated disease(s).
benign
TTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTG...
TTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTG...
benign
37,201
Evaluate this variant at chromosome 2, position 47806435, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
TAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCC...
TAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCC...
pathogenic
37,205
The mutation impacting MSH6 (mutS homolog 6) on chromosome 2 at position 47806437: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5']
GTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAG...
GTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAG...
pathogenic
37,207
Does the variant on chromosome 2 at location 47806438 affecting gene MSH6 (mutS homolog 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
benign
TAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGG...
TAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGG...
benign
37,208
The chromosome 2, position 47806438 genetic variant in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
TAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGG...
TAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGG...
pathogenic
37,209
Variant in gene MSH6 (mutS homolog 6), located at chromosome 2 position 47806453: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5']
CCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCT...
CCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCT...
pathogenic
37,216
The mutation in gene MSH6 (mutS homolog 6) at chromosome 2, position 47806455—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
CCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCT...
CCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCT...
pathogenic
37,218
Is the genetic variant on chromosome 2, position 47806462, gene MSH6 (mutS homolog 6), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5']
TCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCT...
TCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCT...
pathogenic
37,221
The mutation in gene MSH6 (mutS homolog 6) at chromosome 2, position 47806464—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Endometrial_carcinoma', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
TCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCT...
TCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCT...
pathogenic
37,222
Does the variant impacting MSH6 (mutS homolog 6) on chromosome 2, position 47806465, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
CCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTT...
CCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTT...
pathogenic
37,223
Is the chromosome 2, position 47806465 variant in MSH6 (mutS homolog 6) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
CCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTT...
CCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTT...
pathogenic
37,224
Regarding the variant found on chromosome 2 at position 47806466 in gene MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Lynch_syndrome']
CTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTA...
CTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTA...
pathogenic
37,225
Considering the variant on chromosome 2, location 47806470, involving gene MSH6 (mutS homolog 6), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Gaucher_disease_type_I', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5']
ATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCT...
ATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCT...
pathogenic
37,227
Determine if the mutation at chromosome 2, position 47806480 in gene MSH6 (mutS homolog 6) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5']
ACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTC...
ACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTC...
pathogenic
37,231
The chromosome 2, position 47806480 genetic variant in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5', 'Mismatch_repair_cancer_syndrome_3']
ACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTC...
ACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTC...
pathogenic
37,232
Chromosome 2, position 47806488, gene MSH6 (mutS homolog 6): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
TCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAG...
TCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAG...
pathogenic
37,236
Variant on chromosome 2, at position 47806489, affecting MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5', 'Malignant_tumor_of_breast']
CACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGC...
CACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGC...
pathogenic
37,238
Does the genetic variant at chromosome 2, position 47806490, impacting gene MSH6 (mutS homolog 6), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Lynch_syndrome_5']
ACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCA...
ACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCA...
pathogenic
37,240
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 47806491, gene MSH6 (mutS homolog 6). What disease(s) is it linked to if pathogenic?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
CCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAA...
CCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAA...
pathogenic
37,241
Regarding the variant found on chromosome 2 at position 47806495 in gene MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
GTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGG...
GTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGG...
pathogenic
37,242
Is the genetic mutation found on chromosome 2 at position 47806495, within the gene MSH6 (mutS homolog 6), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
GTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGG...
GTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGG...
pathogenic
37,243
Is chromosome 2, position 47806495, gene MSH6 (mutS homolog 6) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
GTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGG...
GTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGG...
pathogenic
37,244
Is the genetic variant on chromosome 2, position 47806496, gene MSH6 (mutS homolog 6), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5']
TTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGA...
TTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGA...
pathogenic
37,246
Variant chromosome 2, position 47806497, gene MSH6 (mutS homolog 6): benign or pathogenic? Disease(s)?
pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5']
TTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGAT...
TTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGAT...
pathogenic
37,247
A genetic variant at chromosome 2, position 47806498, affecting gene MSH6 (mutS homolog 6)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
TGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATT...
TGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATT...
pathogenic
37,248
Regarding the variant at chromosome 2 and position 47806498, affecting gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
TGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATT...
TGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATT...
pathogenic
37,249
Considering the variant on chromosome 2, location 47806498, involving gene MSH6 (mutS homolog 6), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5']
TGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATT...
TGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATT...
pathogenic
37,250
Evaluate the clinical significance of the mutation at chromosome 2, position 47806498 in gene MSH6 (mutS homolog 6): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
TGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATT...
TGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATT...
pathogenic
37,251
Mutation found at chromosome 2 position 47806499, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5']
GCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTT...
GCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTT...
pathogenic
37,253
Does the variant on chromosome 2 at location 47806501 affecting gene MSH6 (mutS homolog 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
TAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCA...
TAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCA...
pathogenic
37,254
Regarding the variant at chromosome 2 and position 47806502, affecting gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
AGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCAG...
AGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCAG...
pathogenic
37,257
Is the chromosome 2, position 47806505 variant in MSH6 (mutS homolog 6) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5']
GAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCAGAAC...
GAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCAGAAC...
pathogenic
37,259