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 |
|---|---|---|---|---|---|
Evaluate the clinical significance of the mutation at chromosome 7, position 117509096 in gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | CTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGAAGTATGGTTTCCA... | CTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGAAGTATGGTTTCCA... | pathogenic | 125,844 |
Clinical classification of chromosome 7, position 117509096, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | CTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGAAGTATGGTTTCCA... | CTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGAAGTATGGTTTCCA... | pathogenic | 125,845 |
Does the variant on chromosome 7 at location 117509102 affecting gene CFTR (CF transmembrane conductance regulator) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | ATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGAAGTATGGTTTCCACCATGT... | ATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGAAGTATGGTTTCCACCATGT... | pathogenic | 125,848 |
Determine whether the variant at chromosome 7, position 117509127, in gene CFTR (CF transmembrane conductance regulator) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | TCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGAAGTATGGTTTCCACCATGTTCCTAAAACTACATTGCCCAGGGTC... | TCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGAAGTATGGTTTCCACCATGTTCCTAAAACTACATTGCCCAGGGTC... | pathogenic | 125,855 |
Assess the variant on chromosome 7, position 117530893, impacting CFTR (CF transmembrane conductance regulator): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cystic_fibrosis'] | TCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATAC... | TCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATAC... | pathogenic | 125,871 |
Chromosome 7, position 117530927, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis', 'likely other unspecified diseases'] | AGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATG... | AGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATG... | pathogenic | 125,886 |
Variant at chromosome 7, position 117530930, gene CFTR (CF transmembrane conductance regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | ATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGT... | ATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGT... | pathogenic | 125,888 |
Variant in gene CFTR (CF transmembrane conductance regulator), located at chromosome 7 position 117530933: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | TGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCA... | TGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCA... | pathogenic | 125,891 |
Is the variant located on chromosome 7 at position 117530936, gene CFTR (CF transmembrane conductance regulator), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | AGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGT... | AGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGT... | pathogenic | 125,892 |
Does the variant on chromosome 7 at location 117530941 affecting gene CFTR (CF transmembrane conductance regulator) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | TAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTT... | TAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTT... | pathogenic | 125,895 |
Is the variant located on chromosome 7 at position 117530950, gene CFTR (CF transmembrane conductance regulator), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACA... | TTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACA... | pathogenic | 125,897 |
Variant chromosome 7, position 117530954, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Disease(s)? | pathogenic; ['Cystic_fibrosis'] | ACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGA... | ACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGA... | pathogenic | 125,902 |
Regarding the variant found on chromosome 7 at position 117531033 in gene CFTR (CF transmembrane conductance regulator): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | ATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGG... | ATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGG... | pathogenic | 125,922 |
For chromosome 7, position 117531033, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cystic_fibrosis'] | ATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGG... | ATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGG... | pathogenic | 125,923 |
Gene CFTR (CF transmembrane conductance regulator) variant at chromosome position 117531036 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | CCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAA... | CCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAA... | pathogenic | 125,924 |
A genetic variant at chromosome 7, position 117531048, affecting gene CFTR (CF transmembrane conductance regulator)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | GCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG... | GCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG... | pathogenic | 125,927 |
Is the genetic variant on chromosome 7, position 117531049, gene CFTR (CF transmembrane conductance regulator), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | CCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGA... | CCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGA... | pathogenic | 125,928 |
Is the genetic mutation found on chromosome 7 at position 117531066, within the gene CFTR (CF transmembrane conductance regulator), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | ATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAA... | ATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAA... | pathogenic | 125,931 |
Chromosome 7, position 117531093, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cystic_fibrosis'] | TGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG... | TGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG... | pathogenic | 125,934 |
Clinical significance of chromosome 7, position 117531108, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG... | TGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG... | pathogenic | 125,938 |
Variant at chromosome position 117531111, chromosome 7, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cystic_fibrosis'] | ACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG... | ACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG... | pathogenic | 125,940 |
The mutation in gene CFTR (CF transmembrane conductance regulator) at chromosome 7, position 117534283—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | ATGTGGAATCTACACAGTTGGCATATCAGAGAAGGTTGAATTCAGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATA... | ATGTGGAATCTACACAGTTGGCATATCAGAGAAGGTTGAATTCAGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATA... | pathogenic | 125,951 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 117534292, gene CFTR (CF transmembrane conductance regulator): what disease(s) if pathogenic? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | CTACACAGTTGGCATATCAGAGAAGGTTGAATTCAGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGT... | CTACACAGTTGGCATATCAGAGAAGGTTGAATTCAGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGT... | pathogenic | 125,953 |
Variant at chromosome 7, position 117534315, gene CFTR (CF transmembrane conductance regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | AGGTTGAATTCAGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGAC... | AGGTTGAATTCAGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGAC... | pathogenic | 125,957 |
Variant on chromosome 7, at position 117534315, affecting CFTR (CF transmembrane conductance regulator): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | AGGTTGAATTCAGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGAC... | AGGTTGAATTCAGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGAC... | pathogenic | 125,958 |
Is the genetic variant on chromosome 7, position 117534326, gene CFTR (CF transmembrane conductance regulator), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | AGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGACAGGCATGGGCT... | AGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGACAGGCATGGGCT... | pathogenic | 125,961 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 117534329, gene CFTR (CF transmembrane conductance regulator): what disease(s) if pathogenic? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGACAGGCATGGGCTAAA... | TTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGACAGGCATGGGCTAAA... | pathogenic | 125,962 |
Does the chromosome 7 mutation at position 117534344 within gene CFTR (CF transmembrane conductance regulator) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cystic_fibrosis'] | AGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGACAGGCATGGGCTAAACGGGTGTAGAGATCA... | AGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGACAGGCATGGGCTAAACGGGTGTAGAGATCA... | pathogenic | 125,964 |
Classify the chromosome 7 variant at position 117535253 affecting gene CFTR (CF transmembrane conductance regulator) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | TAGCTCAGTGGATTTCCCCCACTTCATATTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCA... | TAGCTCAGTGGATTTCCCCCACTTCATATTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCA... | pathogenic | 125,983 |
Classify the chromosome 7 variant at position 117535268 affecting gene CFTR (CF transmembrane conductance regulator) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | CCCCCACTTCATATTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCA... | CCCCCACTTCATATTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCA... | pathogenic | 125,989 |
Variant in CFTR (CF transmembrane conductance regulator), chromosome 7, position 117535371—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis', 'likely other unspecified diseases'] | TTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAAATCAATTCTTCAGTTTTATAGGCAAAGTATGACTC... | TTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAAATCAATTCTTCAGTTTTATAGGCAAAGTATGACTC... | pathogenic | 126,010 |
A mutation at chromosome position 117535382 on chromosome 7 in gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | CAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAAATCAATTCTTCAGTTTTATAGGCAAAGTATGACTCTGGTTTTCCAT... | CAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAAATCAATTCTTCAGTTTTATAGGCAAAGTATGACTCTGGTTTTCCAT... | pathogenic | 126,013 |
A genetic alteration at chromosome 7, position 117535387, in gene CFTR (CF transmembrane conductance regulator)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | AAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAAATCAATTCTTCAGTTTTATAGGCAAAGTATGACTCTGGTTTTCCATAATCA... | AAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAAATCAATTCTTCAGTTTTATAGGCAAAGTATGACTCTGGTTTTCCATAATCA... | pathogenic | 126,016 |
Benign or pathogenic: chromosome 7, position 117535406, gene CFTR (CF transmembrane conductance regulator) variant? Disease(s) if pathogenic? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | TTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAAATCAATTCTTCAGTTTTATAGGCAAAGTATGACTCTGGTTTTCCATAATCATAATTAATTTGTCAACTTT... | TTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAAATCAATTCTTCAGTTTTATAGGCAAAGTATGACTCTGGTTTTCCATAATCATAATTAATTTGTCAACTTT... | pathogenic | 126,020 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 117536514, gene CFTR (CF transmembrane conductance regulator). What disease(s) is it linked to if pathogenic? | benign | AGTCTTGCTCAGCTCTAGCTTCCCTATTCTGGAAACTAAGAAAGGTCAATTGTATAGCAGAGCACCATTCTGGGGTCTGGTAGAACCACCCAACTCAAAGGCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACC... | AGTCTTGCTCAGCTCTAGCTTCCCTATTCTGGAAACTAAGAAAGGTCAATTGTATAGCAGAGCACCATTCTGGGGTCTGGTAGAACCACCCAACTCAAAGGCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACC... | benign | 126,024 |
Considering the variant on chromosome 7, location 117536514, involving gene CFTR (CF transmembrane conductance regulator), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AGTCTTGCTCAGCTCTAGCTTCCCTATTCTGGAAACTAAGAAAGGTCAATTGTATAGCAGAGCACCATTCTGGGGTCTGGTAGAACCACCCAACTCAAAGGCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACC... | AGTCTTGCTCAGCTCTAGCTTCCCTATTCTGGAAACTAAGAAAGGTCAATTGTATAGCAGAGCACCATTCTGGGGTCTGGTAGAACCACCCAACTCAAAGGCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACC... | benign | 126,025 |
Determine whether the variant at chromosome 7, position 117536563, in gene CFTR (CF transmembrane conductance regulator) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cystic_fibrosis'] | TTGTATAGCAGAGCACCATTCTGGGGTCTGGTAGAACCACCCAACTCAAAGGCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACCCACAGCTGGTACAAAATTAATTACTGTTGAATTGAGCAAATATTTATTC... | TTGTATAGCAGAGCACCATTCTGGGGTCTGGTAGAACCACCCAACTCAAAGGCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACCCACAGCTGGTACAAAATTAATTACTGTTGAATTGAGCAAATATTTATTC... | pathogenic | 126,028 |
Variant on chromosome 7, at position 117536573, affecting CFTR (CF transmembrane conductance regulator): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cystic_fibrosis'] | GAGCACCATTCTGGGGTCTGGTAGAACCACCCAACTCAAAGGCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACCCACAGCTGGTACAAAATTAATTACTGTTGAATTGAGCAAATATTTATTCTAAATGTCTC... | GAGCACCATTCTGGGGTCTGGTAGAACCACCCAACTCAAAGGCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACCCACAGCTGGTACAAAATTAATTACTGTTGAATTGAGCAAATATTTATTCTAAATGTCTC... | pathogenic | 126,031 |
Considering the genetic mutation at chromosome 7, position 117536579, impacting CFTR (CF transmembrane conductance regulator): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | CATTCTGGGGTCTGGTAGAACCACCCAACTCAAAGGCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACCCACAGCTGGTACAAAATTAATTACTGTTGAATTGAGCAAATATTTATTCTAAATGTCTCTGTCAA... | CATTCTGGGGTCTGGTAGAACCACCCAACTCAAAGGCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACCCACAGCTGGTACAAAATTAATTACTGTTGAATTGAGCAAATATTTATTCTAAATGTCTCTGTCAA... | pathogenic | 126,033 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 117536603, gene CFTR (CF transmembrane conductance regulator). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | CCAACTCAAAGGCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACCCACAGCTGGTACAAAATTAATTACTGTTGAATTGAGCAAATATTTATTCTAAATGTCTCTGTCAAATGACAGAGTGTGGTTGTGTGGAT... | CCAACTCAAAGGCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACCCACAGCTGGTACAAAATTAATTACTGTTGAATTGAGCAAATATTTATTCTAAATGTCTCTGTCAAATGACAGAGTGTGGTTGTGTGGAT... | pathogenic | 126,036 |
Is the chromosome 7, position 117536614 variant in CFTR (CF transmembrane conductance regulator) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cystic_fibrosis'] | GCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACCCACAGCTGGTACAAAATTAATTACTGTTGAATTGAGCAAATATTTATTCTAAATGTCTCTGTCAAATGACAGAGTGTGGTTGTGTGGATTAAGTCCCTGG... | GCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACCCACAGCTGGTACAAAATTAATTACTGTTGAATTGAGCAAATATTTATTCTAAATGTCTCTGTCAAATGACAGAGTGTGGTTGTGTGGATTAAGTCCCTGG... | pathogenic | 126,040 |
The mutation in gene CFTR (CF transmembrane conductance regulator) at chromosome 7, position 117536648—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | ACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACCCACAGCTGGTACAAAATTAATTACTGTTGAATTGAGCAAATATTTATTCTAAATGTCTCTGTCAAATGACAGAGTGTGGTTGTGTGGATTAAGTCCCTGGAGAGAGTTCTTTGTTCTCTCATGTTCTATGCTGT... | ACTTAATTCTTATCAGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACCCACAGCTGGTACAAAATTAATTACTGTTGAATTGAGCAAATATTTATTCTAAATGTCTCTGTCAAATGACAGAGTGTGGTTGTGTGGATTAAGTCCCTGGAGAGAGTTCTTTGTTCTCTCATGTTCTATGCTGT... | pathogenic | 126,045 |
Mutation at chromosome 7, position 117536662, within CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis', 'likely other unspecified diseases'] | AGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACCCACAGCTGGTACAAAATTAATTACTGTTGAATTGAGCAAATATTTATTCTAAATGTCTCTGTCAAATGACAGAGTGTGGTTGTGTGGATTAAGTCCCTGGAGAGAGTTCTTTGTTCTCTCATGTTCTATGCTGTGGTTCTTGCTTTAT... | AGACCTTGCTTCTTTTTAAAACTTTAAATCTGTTATGTACTTTGGCCAGATATGATACCTGAGCAATTCTTGTTCTGGGTTGTCTTATGTGAAAAATAAATTCAAGGTCCTTGGGACAGATAATGTGTTTTATTTATCTTTGCATATCCATTACTTAAAACAGCATTGGACCCACAGCTGGTACAAAATTAATTACTGTTGAATTGAGCAAATATTTATTCTAAATGTCTCTGTCAAATGACAGAGTGTGGTTGTGTGGATTAAGTCCCTGGAGAGAGTTCTTTGTTCTCTCATGTTCTATGCTGTGGTTCTTGCTTTAT... | pathogenic | 126,048 |
The mutation impacting CFTR (CF transmembrane conductance regulator) on chromosome 7 at position 117538986: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | GCTGCTCAATACATTTATTTCGTTAAAACAATTATCAAGATACTGAAGGCTGATTGGTAACTCACATGGAACTGGGAGAGTATACAATTCTGAACCAAATAGATGATTCTCTATTATTATATCTTAATTTATGTGTTATGGTATATTAAACATGAAAAAAATTGTATTTGGTTAGAATATGTTTGCTCTTCCTTAACTCGGGAATGACATAGGGTAATATTCACAGATTGGGTTCCTATAAATCCTCCACTTGAAGTGAAGTCAGTTCAAGTAATGAAAGCTACCTCCTGAGATAGAATCAGTACTTGGCACCTATCTCT... | GCTGCTCAATACATTTATTTCGTTAAAACAATTATCAAGATACTGAAGGCTGATTGGTAACTCACATGGAACTGGGAGAGTATACAATTCTGAACCAAATAGATGATTCTCTATTATTATATCTTAATTTATGTGTTATGGTATATTAAACATGAAAAAAATTGTATTTGGTTAGAATATGTTTGCTCTTCCTTAACTCGGGAATGACATAGGGTAATATTCACAGATTGGGTTCCTATAAATCCTCCACTTGAAGTGAAGTCAGTTCAAGTAATGAAAGCTACCTCCTGAGATAGAATCAGTACTTGGCACCTATCTCT... | pathogenic | 126,057 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 117540102, gene CFTR (CF transmembrane conductance regulator). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cystic_fibrosis'] | CCTCTTACTTGGAATTTCTCTTTGATATATAGCGAATGTTTGGTTGTAACCTGTATAATCTGGCATGAAATTGTCACTCGAAAAGGCTAGAAGTGTTGACATAAATATGGGACAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTA... | CCTCTTACTTGGAATTTCTCTTTGATATATAGCGAATGTTTGGTTGTAACCTGTATAATCTGGCATGAAATTGTCACTCGAAAAGGCTAGAAGTGTTGACATAAATATGGGACAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTA... | pathogenic | 126,060 |
Is the variant located on chromosome 7 at position 117540156, gene CFTR (CF transmembrane conductance regulator), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | ATAATCTGGCATGAAATTGTCACTCGAAAAGGCTAGAAGTGTTGACATAAATATGGGACAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATT... | ATAATCTGGCATGAAATTGTCACTCGAAAAGGCTAGAAGTGTTGACATAAATATGGGACAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATT... | pathogenic | 126,067 |
A genetic alteration at chromosome 7, position 117540159, in gene CFTR (CF transmembrane conductance regulator)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | ATCTGGCATGAAATTGTCACTCGAAAAGGCTAGAAGTGTTGACATAAATATGGGACAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTT... | ATCTGGCATGAAATTGTCACTCGAAAAGGCTAGAAGTGTTGACATAAATATGGGACAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTT... | pathogenic | 126,069 |
Does the variant impacting CFTR (CF transmembrane conductance regulator) on chromosome 7, position 117540175, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | TCACTCGAAAAGGCTAGAAGTGTTGACATAAATATGGGACAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGAT... | TCACTCGAAAAGGCTAGAAGTGTTGACATAAATATGGGACAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGAT... | pathogenic | 126,073 |
Benign or pathogenic: chromosome 7, position 117540184, gene CFTR (CF transmembrane conductance regulator) variant? Disease(s) if pathogenic? | pathogenic; ['Cystic_fibrosis'] | AAGGCTAGAAGTGTTGACATAAATATGGGACAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTT... | AAGGCTAGAAGTGTTGACATAAATATGGGACAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTT... | pathogenic | 126,075 |
Is the genetic change at chromosome 7, position 117540214, within gene CFTR (CF transmembrane conductance regulator) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | CAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTT... | CAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTT... | pathogenic | 126,081 |
Is the genetic mutation found on chromosome 7 at position 117540236, within the gene CFTR (CF transmembrane conductance regulator), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | AGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTT... | AGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTT... | pathogenic | 126,087 |
Is the chromosome 7, position 117540248 variant in CFTR (CF transmembrane conductance regulator) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis', 'likely other unspecified diseases'] | TAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTC... | TAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTC... | pathogenic | 126,091 |
Does the variant on chromosome 7 at location 117540258 affecting gene CFTR (CF transmembrane conductance regulator) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | GAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTA... | GAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTA... | pathogenic | 126,094 |
Gene CFTR (CF transmembrane conductance regulator) variant at chromosome position 117540305 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | GGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTATAAAAAGTGTTTCCTATCATTTTATAAATACCAGCCTA... | GGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTATAAAAAGTGTTTCCTATCATTTTATAAATACCAGCCTA... | pathogenic | 126,108 |
Variant at chromosome 7, position 117540310, gene CFTR (CF transmembrane conductance regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | CTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTATAAAAAGTGTTTCCTATCATTTTATAAATACCAGCCTAGTCCA... | CTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTATAAAAAGTGTTTCCTATCATTTTATAAATACCAGCCTAGTCCA... | pathogenic | 126,111 |
Clinically, how would you classify the variant at chromosome 7, position 117540311, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTATAAAAAGTGTTTCCTATCATTTTATAAATACCAGCCTAGTCCAT... | TGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTATAAAAAGTGTTTCCTATCATTTTATAAATACCAGCCTAGTCCAT... | pathogenic | 126,112 |
Regarding the variant found on chromosome 7 at position 117540318 in gene CFTR (CF transmembrane conductance regulator): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | CTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTATAAAAAGTGTTTCCTATCATTTTATAAATACCAGCCTAGTCCATGTTATTC... | CTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTATAAAAAGTGTTTCCTATCATTTTATAAATACCAGCCTAGTCCATGTTATTC... | pathogenic | 126,114 |
Assess the variant on chromosome 7, position 117542025, impacting CFTR (CF transmembrane conductance regulator): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | GAGCCAGGTTAAAAATATAGGCAGAAAGACTCTAGAGACCATGCTCAGATCTTCCATTCCAAGATCCCTGATATTTGAAAAATAAAATAACATCCTGAATTTTATTGTTATTGTTTTTTATAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCT... | GAGCCAGGTTAAAAATATAGGCAGAAAGACTCTAGAGACCATGCTCAGATCTTCCATTCCAAGATCCCTGATATTTGAAAAATAAAATAACATCCTGAATTTTATTGTTATTGTTTTTTATAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCT... | pathogenic | 126,121 |
A mutation at chromosome position 117542050 on chromosome 7 in gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | AAGACTCTAGAGACCATGCTCAGATCTTCCATTCCAAGATCCCTGATATTTGAAAAATAAAATAACATCCTGAATTTTATTGTTATTGTTTTTTATAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTC... | AAGACTCTAGAGACCATGCTCAGATCTTCCATTCCAAGATCCCTGATATTTGAAAAATAAAATAACATCCTGAATTTTATTGTTATTGTTTTTTATAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTC... | pathogenic | 126,129 |
Variant at chromosome 7, position 117542120, gene CFTR (CF transmembrane conductance regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TGAATTTTATTGTTATTGTTTTTTATAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATACAGGTAATGTACCATAATGCTGCATTATATACTATGATTTAAATAATC... | TGAATTTTATTGTTATTGTTTTTTATAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATACAGGTAATGTACCATAATGCTGCATTATATACTATGATTTAAATAATC... | benign | 126,144 |
Variant at chromosome 7, position 117548606, gene CFTR: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ATTTCTCTTTTCTTATTTCTGGTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACA... | ATTTCTCTTTTCTTATTTCTGGTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACA... | benign | 126,146 |
Clinically, how would you classify the variant at chromosome 7, position 117548606, gene CFTR: benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | ATTTCTCTTTTCTTATTTCTGGTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACA... | ATTTCTCTTTTCTTATTTCTGGTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACA... | benign | 126,147 |
The mutation impacting CFTR on chromosome 7 at position 117548606: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATTTCTCTTTTCTTATTTCTGGTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACA... | ATTTCTCTTTTCTTATTTCTGGTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACA... | benign | 126,148 |
Evaluate if the mutation on chromosome 7 at position 117548606 in CFTR is benign or pathogenic. Disease name(s) if pathogenic? | benign | ATTTCTCTTTTCTTATTTCTGGTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACA... | ATTTCTCTTTTCTTATTTCTGGTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACA... | benign | 126,149 |
Classify the chromosome 7 variant at position 117548606 affecting gene CFTR as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ATTTCTCTTTTCTTATTTCTGGTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACA... | ATTTCTCTTTTCTTATTTCTGGTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACA... | benign | 126,150 |
Considering the genetic mutation at chromosome 7, position 117548625, impacting CFTR: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TGGTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATG... | TGGTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATG... | benign | 126,151 |
Chromosome 7, position 117548626, gene CFTR: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGT... | GGTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGT... | benign | 126,152 |
Gene CFTR variant at chromosome position 117548627 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTA... | GTTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTA... | benign | 126,153 |
Does the variant impacting CFTR on chromosome 7, position 117548628, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTAT... | TTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTAT... | benign | 126,154 |
Chromosome 7, position 117548628, gene CFTR: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTAT... | TTTTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTAT... | benign | 126,155 |
Considering the genetic mutation at chromosome 7, position 117548630, impacting CFTR: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | TTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGT... | TTCTGTGTTTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGT... | pathogenic | 126,158 |
Is the genetic variant on chromosome 7, position 117548638, gene CFTR, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis', 'likely other unspecified diseases'] | TTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATT... | TTTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATT... | pathogenic | 126,160 |
Assess the variant on chromosome 7, position 117548639, impacting CFTR: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTT... | TTCCAAATTTCTTGAAATGTGTCTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTT... | pathogenic | 126,162 |
Does the variant impacting CFTR on chromosome 7, position 117548661, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cystic_fibrosis', 'Hereditary_pancreatitis', 'likely other unspecified diseases'] | CTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTT... | CTTCTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTT... | pathogenic | 126,167 |
Does the variant impacting CFTR on chromosome 7, position 117548664, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cystic_fibrosis'] | CTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTC... | CTGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTC... | pathogenic | 126,168 |
Classify the chromosome 7 variant at position 117548665 affecting gene CFTR as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cystic_fibrosis'] | TGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCT... | TGTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCT... | pathogenic | 126,169 |
The mutation in gene CFTR at chromosome 7, position 117548666—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_nonpolyposis_colon_cancer', 'Hereditary_pancreatitis'] | GTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTT... | GTAATCAGAAATAAAAGTTATTAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTT... | pathogenic | 126,170 |
Is the genetic variant on chromosome 7, position 117548687, gene CFTR, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGT... | TAGTAACAACAGTCTTCCACTGGTACAAGTGCTTATTGGATAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGT... | pathogenic | 126,175 |
Evaluate the clinical significance of the mutation at chromosome 7, position 117548727 in gene CFTR: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cystic_fibrosis'] | TAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATT... | TAAAAGTCCCACTTCTAAGCATGATACTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATT... | pathogenic | 126,183 |
Gene mutation in CFTR at chromosome 7, position 117548756—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | ACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGAT... | ACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGAT... | pathogenic | 126,190 |
Regarding the variant at chromosome 7 and position 117548758, affecting gene CFTR: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis', 'likely other unspecified diseases'] | AACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGT... | AACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGT... | pathogenic | 126,191 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 117548763, gene CFTR: what disease(s) if pathogenic? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAA... | TTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAA... | pathogenic | 126,192 |
Variant at chromosome position 117548769, chromosome 7, gene CFTR: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'likely other unspecified diseases'] | TAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAAGTAGTT... | TAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAAGTAGTT... | pathogenic | 126,193 |
Mutation found at chromosome 7 position 117548774, gene CFTR: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cystic_fibrosis'] | GCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAAGTAGTTTCTAA... | GCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAAGTAGTTTCTAA... | pathogenic | 126,194 |
Regarding the variant found on chromosome 7 at position 117548795 in gene CFTR: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cystic_fibrosis'] | ACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAAGTAGTTTCTAACACAGAGATTATACTCAATAA... | ACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAAGTAGTTTCTAACACAGAGATTATACTCAATAA... | pathogenic | 126,198 |
Evaluate if the mutation on chromosome 7 at position 117548802 in CFTR is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | ATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAAGTAGTTTCTAACACAGAGATTATACTCAATAAATATTTA... | ATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAAGTAGTTTCTAACACAGAGATTATACTCAATAAATATTTA... | pathogenic | 126,202 |
A genetic alteration at chromosome 7, position 117559477, in gene CFTR—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cystic_fibrosis'] | TCTTCTACATCTTCACTTATCTTTTTTCTACTTGCTTTGCCATTAACAGATAAAGTTGAATTAAAGGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAG... | TCTTCTACATCTTCACTTATCTTTTTTCTACTTGCTTTGCCATTAACAGATAAAGTTGAATTAAAGGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAG... | pathogenic | 126,218 |
The mutation in gene CFTR at chromosome 7, position 117559486—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | TCTTCACTTATCTTTTTTCTACTTGCTTTGCCATTAACAGATAAAGTTGAATTAAAGGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTC... | TCTTCACTTATCTTTTTTCTACTTGCTTTGCCATTAACAGATAAAGTTGAATTAAAGGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTC... | pathogenic | 126,220 |
Is the genetic change at chromosome 7, position 117559493, within gene CFTR benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TTATCTTTTTTCTACTTGCTTTGCCATTAACAGATAAAGTTGAATTAAAGGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGT... | TTATCTTTTTTCTACTTGCTTTGCCATTAACAGATAAAGTTGAATTAAAGGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGT... | pathogenic | 126,224 |
Variant on chromosome 7, at position 117559532, affecting CFTR: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TTGAATTAAAGGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGT... | TTGAATTAAAGGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGT... | pathogenic | 126,231 |
Does the variant on chromosome 7 at location 117559538 affecting gene CFTR have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | TAAAGGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTC... | TAAAGGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTC... | pathogenic | 126,235 |
Considering the genetic mutation at chromosome 7, position 117559547, impacting CFTR: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | CTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATA... | CTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATA... | pathogenic | 126,238 |
Gene mutation in CFTR at chromosome 7, position 117559550—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cystic_fibrosis'] | CTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGAT... | CTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGAT... | pathogenic | 126,240 |
Mutation at chromosome 7, position 117559586, within CFTR: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis', 'likely other unspecified diseases'] | TGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATAT... | TGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATAT... | pathogenic | 126,245 |
Does the variant impacting CFTR on chromosome 7, position 117559590, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Bronchiectasis_with_or_without_elevated_sweat_chloride_1,_modifier_of', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Duodenal_stenosis', 'Hereditary_pancreatitis', 'Obstructive_az... | ATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATATACTT... | ATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATATACTT... | pathogenic | 126,247 |
Variant at chromosome position 117559610, chromosome 7, gene CFTR: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cystic_fibrosis'] | GCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATATACTTTTATTTCAAGTATGTCCTCC... | GCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATATACTTTTATTTCAAGTATGTCCTCC... | pathogenic | 126,250 |
Is the chromosome 7, position 117559612 variant in CFTR clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Abnormality_of_metabolism/homeostasis', 'Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | TTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATATACTTTTATTTCAAGTATGTCCTCCAC... | TTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATATACTTTTATTTCAAGTATGTCCTCCAC... | pathogenic | 126,252 |
Variant on chromosome 7, at position 117559642, affecting CFTR: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cystic_fibrosis'] | TTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATATACTTTTATTTCAAGTATGTCCTCCACAAATATTTTTTGAATAGATTAGCTTATATA... | TTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATATACTTTTATTTCAAGTATGTCCTCCACAAATATTTTTTGAATAGATTAGCTTATATA... | pathogenic | 126,256 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 117559705, gene CFTR. What disease(s) is it linked to if pathogenic? | benign | CTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATATACTTTTATTTCAAGTATGTCCTCCACAAATATTTTTTGAATAGATTAGCTTATATACTTTGGAATTTGTTAAAAAAAGATTTTTATAAAAAATAATTGTGGTGAAATGTACATAACATA... | CTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATATACTTTTATTTCAAGTATGTCCTCCACAAATATTTTTTGAATAGATTAGCTTATATACTTTGGAATTTGTTAAAAAAAGATTTTTATAAAAAATAATTGTGGTGAAATGTACATAACATA... | benign | 126,262 |
Gene mutation in CFTR at chromosome 7, position 117587795—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cystic_fibrosis'] | TCCTCCTCCCTCACCCTCCTGAGTAGCTGGGGCTACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAG... | TCCTCCTCCCTCACCCTCCTGAGTAGCTGGGGCTACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAG... | pathogenic | 126,273 |
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