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 |
|---|---|---|---|---|---|
Gene mutation in CFTR at chromosome 7, position 117587803—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | CCTCACCCTCCTGAGTAGCTGGGGCTACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCACTT... | CCTCACCCTCCTGAGTAGCTGGGGCTACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCACTT... | pathogenic | 126,280 |
Gene mutation in CFTR at chromosome 7, position 117587823—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | GGGGCTACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCACTTGCATGAACACCTCTAAATTA... | GGGGCTACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCACTTGCATGAACACCTCTAAATTA... | pathogenic | 126,287 |
Is chromosome 7, position 117590362, gene CFTR (CF transmembrane conductance regulator) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | ACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAACC... | ACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAACC... | pathogenic | 126,317 |
The genetic variant at chromosome 7, position 117590373, affecting gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | GCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAACCCTAACTGAGCA... | GCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAACCCTAACTGAGCA... | pathogenic | 126,318 |
Clinical classification of chromosome 7, position 117590411, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? 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'] | ACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAACCCTAACTGAGCACCTGCAATTGCCTGGTAGTATTCTAGTCATGTGTGTAC... | ACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAACCCTAACTGAGCACCTGCAATTGCCTGGTAGTATTCTAGTCATGTGTGTAC... | pathogenic | 126,326 |
Variant in CFTR (CF transmembrane conductance regulator), chromosome 7, position 117591958—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | TTCAAGGGCAGGAACTGTATAATTTTTGCCATTGTATTTTGAGCACATAGCATGGTACTTGCCTCTAAATAGATACTATTGTTAAAATATTTTTTAAGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTAT... | TTCAAGGGCAGGAACTGTATAATTTTTGCCATTGTATTTTGAGCACATAGCATGGTACTTGCCTCTAAATAGATACTATTGTTAAAATATTTTTTAAGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTAT... | pathogenic | 126,347 |
Gene CFTR (CF transmembrane conductance regulator) variant at chromosome 7, position 117592037—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TGTTAAAATATTTTTTAAGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCA... | TGTTAAAATATTTTTTAAGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCA... | pathogenic | 126,359 |
Does the genetic variant at chromosome 7, position 117592054, impacting gene CFTR (CF transmembrane conductance regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cystic_fibrosis'] | AGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAAT... | AGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAAT... | pathogenic | 126,362 |
Is the genetic change at chromosome 7, position 117592067, within gene CFTR (CF transmembrane conductance regulator) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cystic_fibrosis'] | AAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTC... | AAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTC... | pathogenic | 126,363 |
For chromosome 7, position 117592077, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic mutation? If pathogenic, what are 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', 'Hereditary_pancreatitis'] | TATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTT... | TATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTT... | pathogenic | 126,365 |
Determine if the mutation at chromosome 7, position 117592086 in gene CFTR (CF transmembrane conductance regulator) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | GTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAG... | GTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAG... | pathogenic | 126,366 |
Gene CFTR (CF transmembrane conductance regulator) variant at chromosome 7, position 117592090—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | 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'] | AGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATA... | AGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATA... | pathogenic | 126,367 |
The mutation in gene CFTR (CF transmembrane conductance regulator) at chromosome 7, position 117592109—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cystic_fibrosis'] | TTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTAT... | TTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTAT... | pathogenic | 126,371 |
Determine whether the variant at chromosome 7, position 117592137, 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', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | CTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAG... | CTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAG... | pathogenic | 126,377 |
Variant on chromosome 7, at position 117592140, affecting CFTR (CF transmembrane conductance regulator): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cystic_fibrosis'] | CAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATG... | CAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATG... | pathogenic | 126,378 |
Chromosome 7, position 117592140, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | CAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATG... | CAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATG... | pathogenic | 126,379 |
Is the genetic change at chromosome 7, position 117592146, within gene CFTR (CF transmembrane conductance regulator) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cystic_fibrosis'] | TTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAA... | TTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAA... | pathogenic | 126,382 |
A mutation at chromosome position 117592150 on chromosome 7 in gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis', 'likely other unspecified diseases'] | TGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGA... | TGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGA... | pathogenic | 126,383 |
Determine if the mutation at chromosome 7, position 117592177 in gene CFTR (CF transmembrane conductance regulator) is benign or pathogenic. If pathogenic, what disease(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'] | CTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCT... | CTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCT... | pathogenic | 126,387 |
Evaluate this variant at chromosome 7, position 117592208, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | AAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAA... | AAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAA... | pathogenic | 126,394 |
Benign or pathogenic: chromosome 7, position 117592212, gene CFTR (CF transmembrane conductance regulator) variant? 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'] | TAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATA... | TAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATA... | pathogenic | 126,395 |
Clinically, how would you classify the variant at chromosome 7, position 117592212, 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', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis', 'likely other unspecified diseases'] | TAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATA... | TAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATA... | pathogenic | 126,396 |
Regarding the variant at chromosome 7 and position 117592218, affecting gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | ACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAA... | ACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAA... | pathogenic | 126,397 |
Does the genetic variant at chromosome 7, position 117592219, impacting gene CFTR (CF transmembrane conductance regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | CCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAA... | CCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAA... | pathogenic | 126,398 |
Determine if the mutation at chromosome 7, position 117592246 in gene CFTR (CF transmembrane conductance regulator) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | TACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCAT... | TACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCAT... | pathogenic | 126,406 |
Variant chromosome 7, position 117592250, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Disease(s)? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCATTTTA... | TCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCATTTTA... | pathogenic | 126,408 |
Variant chromosome 7, position 117592250, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Disease(s)? | pathogenic; ['Cystic_fibrosis'] | TCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCATTTTA... | TCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCATTTTA... | pathogenic | 126,409 |
Evaluate the clinical significance of the mutation at chromosome 7, position 117592340 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', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'likely other unspecified diseases'] | TCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCATTTTACCTCTTGAGAAATATGTTCACCATTGTTGGTATGGCAGAATGTAGCATGGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTC... | TCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCATTTTACCTCTTGAGAAATATGTTCACCATTGTTGGTATGGCAGAATGTAGCATGGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTC... | pathogenic | 126,422 |
Chromosome 7, position 117592368, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cystic_fibrosis'] | GGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCATTTTACCTCTTGAGAAATATGTTCACCATTGTTGGTATGGCAGAATGTAGCATGGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTC... | GGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCATTTTACCTCTTGAGAAATATGTTCACCATTGTTGGTATGGCAGAATGTAGCATGGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTC... | pathogenic | 126,428 |
Variant on chromosome 7, at position 117592381, 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', 'Cystic_fibrosis'] | AATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCATTTTACCTCTTGAGAAATATGTTCACCATTGTTGGTATGGCAGAATGTAGCATGGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCT... | AATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCATTTTACCTCTTGAGAAATATGTTCACCATTGTTGGTATGGCAGAATGTAGCATGGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCT... | pathogenic | 126,430 |
A mutation at chromosome position 117592405 on chromosome 7 in gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | GTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCATTTTACCTCTTGAGAAATATGTTCACCATTGTTGGTATGGCAGAATGTAGCATGGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATA... | GTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCATTTTACCTCTTGAGAAATATGTTCACCATTGTTGGTATGGCAGAATGTAGCATGGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATA... | pathogenic | 126,435 |
Does the variant impacting CFTR (CF transmembrane conductance regulator) on chromosome 7, position 117592556, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cystic_fibrosis'] | TAGATTGCATTTTACCTCTTGAGAAATATGTTCACCATTGTTGGTATGGCAGAATGTAGCATGGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATACTGTTATAGCAATTGCTATCTATGTAGTTTTTGCAGTATCATTGCCTTGTGATATATATTACTTTAATTATTATTATACTTAACATTTTTATTTACTTTTTGTGTTAGTATTTTATTCTGTCTTCTCCTTAGATAGTAACCTTCTTAAGAA... | TAGATTGCATTTTACCTCTTGAGAAATATGTTCACCATTGTTGGTATGGCAGAATGTAGCATGGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATACTGTTATAGCAATTGCTATCTATGTAGTTTTTGCAGTATCATTGCCTTGTGATATATATTACTTTAATTATTATTATACTTAACATTTTTATTTACTTTTTGTGTTAGTATTTTATTCTGTCTTCTCCTTAGATAGTAACCTTCTTAAGAA... | pathogenic | 126,453 |
Considering the genetic mutation at chromosome 7, position 117592583, impacting CFTR (CF transmembrane conductance regulator): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cystic_fibrosis'] | ATGTTCACCATTGTTGGTATGGCAGAATGTAGCATGGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATACTGTTATAGCAATTGCTATCTATGTAGTTTTTGCAGTATCATTGCCTTGTGATATATATTACTTTAATTATTATTATACTTAACATTTTTATTTACTTTTTGTGTTAGTATTTTATTCTGTCTTCTCCTTAGATAGTAACCTTCTTAAGAAAATATATATGCTAAGTGTTTTACTGGT... | ATGTTCACCATTGTTGGTATGGCAGAATGTAGCATGGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATACTGTTATAGCAATTGCTATCTATGTAGTTTTTGCAGTATCATTGCCTTGTGATATATATTACTTTAATTATTATTATACTTAACATTTTTATTTACTTTTTGTGTTAGTATTTTATTCTGTCTTCTCCTTAGATAGTAACCTTCTTAAGAAAATATATATGCTAAGTGTTTTACTGGT... | pathogenic | 126,455 |
Gene mutation in CFTR (CF transmembrane conductance regulator) at chromosome 7, position 117592618—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'] | GGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATACTGTTATAGCAATTGCTATCTATGTAGTTTTTGCAGTATCATTGCCTTGTGATATATATTACTTTAATTATTATTATACTTAACATTTTTATTTACTTTTTGTGTTAGTATTTTATTCTGTCTTCTCCTTAGATAGTAACCTTCTTAAGAAAATATATATGCTAAGTGTTTTACTGGTTTAATATGCTTAGACTACTCATCTACCTCAATACT... | GGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATACTGTTATAGCAATTGCTATCTATGTAGTTTTTGCAGTATCATTGCCTTGTGATATATATTACTTTAATTATTATTATACTTAACATTTTTATTTACTTTTTGTGTTAGTATTTTATTCTGTCTTCTCCTTAGATAGTAACCTTCTTAAGAAAATATATATGCTAAGTGTTTTACTGGTTTAATATGCTTAGACTACTCATCTACCTCAATACT... | pathogenic | 126,462 |
Does the variant impacting CFTR (CF transmembrane conductance regulator) on chromosome 7, position 117592628, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | CAAATCTGATCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATACTGTTATAGCAATTGCTATCTATGTAGTTTTTGCAGTATCATTGCCTTGTGATATATATTACTTTAATTATTATTATACTTAACATTTTTATTTACTTTTTGTGTTAGTATTTTATTCTGTCTTCTCCTTAGATAGTAACCTTCTTAAGAAAATATATATGCTAAGTGTTTTACTGGTTTAATATGCTTAGACTACTCATCTACCTCAATACTTCCTTGGAGA... | CAAATCTGATCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATACTGTTATAGCAATTGCTATCTATGTAGTTTTTGCAGTATCATTGCCTTGTGATATATATTACTTTAATTATTATTATACTTAACATTTTTATTTACTTTTTGTGTTAGTATTTTATTCTGTCTTCTCCTTAGATAGTAACCTTCTTAAGAAAATATATATGCTAAGTGTTTTACTGGTTTAATATGCTTAGACTACTCATCTACCTCAATACTTCCTTGGAGA... | pathogenic | 126,465 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 117592637, 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'] | TCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATACTGTTATAGCAATTGCTATCTATGTAGTTTTTGCAGTATCATTGCCTTGTGATATATATTACTTTAATTATTATTATACTTAACATTTTTATTTACTTTTTGTGTTAGTATTTTATTCTGTCTTCTCCTTAGATAGTAACCTTCTTAAGAAAATATATATGCTAAGTGTTTTACTGGTTTAATATGCTTAGACTACTCATCTACCTCAATACTTCCTTGGAGATCTCCTCCT... | TCTGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATACTGTTATAGCAATTGCTATCTATGTAGTTTTTGCAGTATCATTGCCTTGTGATATATATTACTTTAATTATTATTATACTTAACATTTTTATTTACTTTTTGTGTTAGTATTTTATTCTGTCTTCTCCTTAGATAGTAACCTTCTTAAGAAAATATATATGCTAAGTGTTTTACTGGTTTAATATGCTTAGACTACTCATCTACCTCAATACTTCCTTGGAGATCTCCTCCT... | pathogenic | 126,468 |
Determine if the mutation at chromosome 7, position 117592639 in gene CFTR (CF transmembrane conductance regulator) is 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', 'Hereditary_pancreatitis'] | TGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATACTGTTATAGCAATTGCTATCTATGTAGTTTTTGCAGTATCATTGCCTTGTGATATATATTACTTTAATTATTATTATACTTAACATTTTTATTTACTTTTTGTGTTAGTATTTTATTCTGTCTTCTCCTTAGATAGTAACCTTCTTAAGAAAATATATATGCTAAGTGTTTTACTGGTTTAATATGCTTAGACTACTCATCTACCTCAATACTTCCTTGGAGATCTCCTCCTCA... | TGCCCTACTGGGCCAGGATTCAAGATTACTTCCATTAAAACCTTTTCTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATACTGTTATAGCAATTGCTATCTATGTAGTTTTTGCAGTATCATTGCCTTGTGATATATATTACTTTAATTATTATTATACTTAACATTTTTATTTACTTTTTGTGTTAGTATTTTATTCTGTCTTCTCCTTAGATAGTAACCTTCTTAAGAAAATATATATGCTAAGTGTTTTACTGGTTTAATATGCTTAGACTACTCATCTACCTCAATACTTCCTTGGAGATCTCCTCCTCA... | pathogenic | 126,470 |
Does the chromosome 7 mutation at position 117594935 within gene CFTR (CF transmembrane conductance regulator) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | AGTTTTTGGTCCTCTACTAAGCCAGTGATAACTGTGACTATAAGTTAGAAAGCATTTGCTTTATTACCATCTTGAACCCTCTGTGGGAAGAGGTGCAGTATAAATAACTGTATAAATAAATAGTAGCTTTCATTATTTATAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTA... | AGTTTTTGGTCCTCTACTAAGCCAGTGATAACTGTGACTATAAGTTAGAAAGCATTTGCTTTATTACCATCTTGAACCCTCTGTGGGAAGAGGTGCAGTATAAATAACTGTATAAATAAATAGTAGCTTTCATTATTTATAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTA... | pathogenic | 126,480 |
Chromosome 7, position 117594935, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cystic_fibrosis'] | AGTTTTTGGTCCTCTACTAAGCCAGTGATAACTGTGACTATAAGTTAGAAAGCATTTGCTTTATTACCATCTTGAACCCTCTGTGGGAAGAGGTGCAGTATAAATAACTGTATAAATAAATAGTAGCTTTCATTATTTATAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTA... | AGTTTTTGGTCCTCTACTAAGCCAGTGATAACTGTGACTATAAGTTAGAAAGCATTTGCTTTATTACCATCTTGAACCCTCTGTGGGAAGAGGTGCAGTATAAATAACTGTATAAATAAATAGTAGCTTTCATTATTTATAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTA... | pathogenic | 126,482 |
Is the genetic variant on chromosome 7, position 117594992, gene CFTR (CF transmembrane conductance regulator), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | GCTTTATTACCATCTTGAACCCTCTGTGGGAAGAGGTGCAGTATAAATAACTGTATAAATAAATAGTAGCTTTCATTATTTATAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTAGAGAATGTATATAAGCTTAACATGTACTAGTGCCAATCTTCAGACAGAAATTTTGTT... | GCTTTATTACCATCTTGAACCCTCTGTGGGAAGAGGTGCAGTATAAATAACTGTATAAATAAATAGTAGCTTTCATTATTTATAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTAGAGAATGTATATAAGCTTAACATGTACTAGTGCCAATCTTCAGACAGAAATTTTGTT... | pathogenic | 126,490 |
Chromosome 7, position 117595011, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | CCCTCTGTGGGAAGAGGTGCAGTATAAATAACTGTATAAATAAATAGTAGCTTTCATTATTTATAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTAGAGAATGTATATAAGCTTAACATGTACTAGTGCCAATCTTCAGACAGAAATTTTGTTCTATTAGGTTTTAAGAATA... | CCCTCTGTGGGAAGAGGTGCAGTATAAATAACTGTATAAATAAATAGTAGCTTTCATTATTTATAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTAGAGAATGTATATAAGCTTAACATGTACTAGTGCCAATCTTCAGACAGAAATTTTGTTCTATTAGGTTTTAAGAATA... | pathogenic | 126,498 |
Is the genetic variant on chromosome 7, position 117595017, 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'] | GTGGGAAGAGGTGCAGTATAAATAACTGTATAAATAAATAGTAGCTTTCATTATTTATAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTAGAGAATGTATATAAGCTTAACATGTACTAGTGCCAATCTTCAGACAGAAATTTTGTTCTATTAGGTTTTAAGAATAAAAGCA... | GTGGGAAGAGGTGCAGTATAAATAACTGTATAAATAAATAGTAGCTTTCATTATTTATAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTAGAGAATGTATATAAGCTTAACATGTACTAGTGCCAATCTTCAGACAGAAATTTTGTTCTATTAGGTTTTAAGAATAAAAGCA... | pathogenic | 126,500 |
Chromosome 7, position 117595022, gene CFTR (CF transmembrane conductance regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | AAGAGGTGCAGTATAAATAACTGTATAAATAAATAGTAGCTTTCATTATTTATAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTAGAGAATGTATATAAGCTTAACATGTACTAGTGCCAATCTTCAGACAGAAATTTTGTTCTATTAGGTTTTAAGAATAAAAGCATTTTA... | AAGAGGTGCAGTATAAATAACTGTATAAATAAATAGTAGCTTTCATTATTTATAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTAGAGAATGTATATAAGCTTAACATGTACTAGTGCCAATCTTCAGACAGAAATTTTGTTCTATTAGGTTTTAAGAATAAAAGCATTTTA... | pathogenic | 126,501 |
Clinical classification of chromosome 7, position 117595039, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? 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'] | TAACTGTATAAATAAATAGTAGCTTTCATTATTTATAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTAGAGAATGTATATAAGCTTAACATGTACTAGTGCCAATCTTCAGACAGAAATTTTGTTCTATTAGGTTTTAAGAATAAAAGCATTTTATTTTTAAAACAGGAAAT... | TAACTGTATAAATAAATAGTAGCTTTCATTATTTATAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTAGAGAATGTATATAAGCTTAACATGTACTAGTGCCAATCTTCAGACAGAAATTTTGTTCTATTAGGTTTTAAGAATAAAAGCATTTTATTTTTAAAACAGGAAAT... | pathogenic | 126,503 |
Clinical classification of chromosome 7, position 117595074, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Disease(s) if pathogenic? | benign | TAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTAGAGAATGTATATAAGCTTAACATGTACTAGTGCCAATCTTCAGACAGAAATTTTGTTCTATTAGGTTTTAAGAATAAAAGCATTTTATTTTTAAAACAGGAAATAATATAAAAAGGAGAGTTTTTGTTGTTTTAGTAGA... | TAGCTCGCAAAATAATCTGTATGGAAGTAGCATATATAAGGTATATAAACATTTAGCCTCTTGATAGGACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTAGAGAATGTATATAAGCTTAACATGTACTAGTGCCAATCTTCAGACAGAAATTTTGTTCTATTAGGTTTTAAGAATAAAAGCATTTTATTTTTAAAACAGGAAATAATATAAAAAGGAGAGTTTTTGTTGTTTTAGTAGA... | benign | 126,505 |
The mutation in gene CFTR (CF transmembrane conductance regulator) at chromosome 7, position 117595142—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTAGAGAATGTATATAAGCTTAACATGTACTAGTGCCAATCTTCAGACAGAAATTTTGTTCTATTAGGTTTTAAGAATAAAAGCATTTTATTTTTAAAACAGGAAATAATATAAAAAGGAGAGTTTTTGTTGTTTTAGTAGAAAACTTAATGCCTTGGATGAAATGAGCCATGGGCAGGGTTGTAATGAATTGATATGTTTAATAGTATA... | ACTAACTCACATTCTGGTTTGTATATCAGTCTTGCCTGAATTTAGCTAGTGTGGGCTTTTTTTTATCTTGTGAGTTTGCTTTATACATTGGGTTTCTGAAAAGATTTCTTTTAGAGAATGTATATAAGCTTAACATGTACTAGTGCCAATCTTCAGACAGAAATTTTGTTCTATTAGGTTTTAAGAATAAAAGCATTTTATTTTTAAAACAGGAAATAATATAAAAAGGAGAGTTTTTGTTGTTTTAGTAGAAAACTTAATGCCTTGGATGAAATGAGCCATGGGCAGGGTTGTAATGAATTGATATGTTTAATAGTATA... | benign | 126,508 |
Does the variant on chromosome 7 at location 117602847 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'] | ATCATAAACTGCATAAACTTTATAACCTCAAAACATTTTGGAAATGAAATGACAGAACTTGCTTACTCAATTGCTTCTATATACACCAAATATTTTTTTAAAGTATTATGTTAAGTCCTTGAAAATATTTTGTTCTACTCAATAGAAGCAGTTTAGGTTGGTAGTTCTATGTGGAAACCGTGAGGAAATAATTTTATATTATGATGACTAGACCAGTCTTTGAACATCACTTTGGTTATTGTTCCATTAGTAAATATTATAATTATTTCTGAGATTTACTCACCTTCAAAGAATGTTGGCAATGCCAGCATTATTAACAC... | ATCATAAACTGCATAAACTTTATAACCTCAAAACATTTTGGAAATGAAATGACAGAACTTGCTTACTCAATTGCTTCTATATACACCAAATATTTTTTTAAAGTATTATGTTAAGTCCTTGAAAATATTTTGTTCTACTCAATAGAAGCAGTTTAGGTTGGTAGTTCTATGTGGAAACCGTGAGGAAATAATTTTATATTATGATGACTAGACCAGTCTTTGAACATCACTTTGGTTATTGTTCCATTAGTAAATATTATAATTATTTCTGAGATTTACTCACCTTCAAAGAATGTTGGCAATGCCAGCATTATTAACAC... | pathogenic | 126,516 |
The mutation impacting CFTR (CF transmembrane conductance regulator) on chromosome 7 at position 117603578: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cystic_fibrosis'] | AAGTACTGTTAAATATTTAAGGCAAATTCAGGTATAAAATAAGACTTGTTGATATCTTATTCCAAGCATATTTGTTTCTCTCCTATTTATTTTTATTCTGTGTTCATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTA... | AAGTACTGTTAAATATTTAAGGCAAATTCAGGTATAAAATAAGACTTGTTGATATCTTATTCCAAGCATATTTGTTTCTCTCCTATTTATTTTTATTCTGTGTTCATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTA... | pathogenic | 126,529 |
Is chromosome 7, position 117603611, gene CFTR (CF transmembrane conductance regulator) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | 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'] | ATAAAATAAGACTTGTTGATATCTTATTCCAAGCATATTTGTTTCTCTCCTATTTATTTTTATTCTGTGTTCATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGT... | ATAAAATAAGACTTGTTGATATCTTATTCCAAGCATATTTGTTTCTCTCCTATTTATTTTTATTCTGTGTTCATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGT... | pathogenic | 126,535 |
Variant chromosome 7, position 117603626, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Disease(s)? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TTGATATCTTATTCCAAGCATATTTGTTTCTCTCCTATTTATTTTTATTCTGTGTTCATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGT... | TTGATATCTTATTCCAAGCATATTTGTTTCTCTCCTATTTATTTTTATTCTGTGTTCATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGT... | pathogenic | 126,542 |
For chromosome 7, position 117603635, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | TATTCCAAGCATATTTGTTTCTCTCCTATTTATTTTTATTCTGTGTTCATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACAT... | TATTCCAAGCATATTTGTTTCTCTCCTATTTATTTTTATTCTGTGTTCATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACAT... | pathogenic | 126,545 |
Variant in gene CFTR (CF transmembrane conductance regulator), located at chromosome 7 position 117603679: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | GTTCATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGA... | GTTCATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGA... | pathogenic | 126,550 |
Evaluate if the mutation on chromosome 7 at position 117603683 in CFTR (CF transmembrane conductance regulator) 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'] | ATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCT... | ATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCT... | pathogenic | 126,551 |
Variant at chromosome position 117603690, chromosome 7, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1'] | AAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGT... | AAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGT... | pathogenic | 126,553 |
Evaluate if the mutation on chromosome 7 at position 117603695 in CFTR (CF transmembrane conductance regulator) is benign or pathogenic. Disease name(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'] | GTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGTCCTAG... | GTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGTCCTAG... | pathogenic | 126,556 |
Regarding the variant at chromosome 7 and position 117603698, affecting gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | TTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGTCCTAGTAC... | TTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGTCCTAGTAC... | pathogenic | 126,557 |
Variant chromosome 7, position 117603732, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Disease(s)? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | TGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGTCCTAGTACCAATAATATGTTTTAACCTGAATGTACCTTATCT... | TGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGTCCTAGTACCAATAATATGTTTTAACCTGAATGTACCTTATCT... | pathogenic | 126,562 |
Clinical significance of chromosome 7, position 117603748, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis', 'likely other unspecified diseases'] | TTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGTCCTAGTACCAATAATATGTTTTAACCTGAATGTACCTTATCTTTATTCATAAACTGTG... | TTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGTCCTAGTACCAATAATATGTTTTAACCTGAATGTACCTTATCTTTATTCATAAACTGTG... | pathogenic | 126,564 |
Does the genetic variant at chromosome 7, position 117603769, impacting gene CFTR (CF transmembrane conductance regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | AGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGTCCTAGTACCAATAATATGTTTTAACCTGAATGTACCTTATCTTTATTCATAAACTGTGACTTTTTACACTGCTGAAACT... | AGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGTCCTAGTACCAATAATATGTTTTAACCTGAATGTACCTTATCTTTATTCATAAACTGTGACTTTTTACACTGCTGAAACT... | pathogenic | 126,567 |
A mutation at chromosome position 117606669 on chromosome 7 in gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cystic_fibrosis'] | AAAAACCCATTATATTTTCTGGGTAACAAAATTTCAGTGTTATTAACATGTAGGAAGATCTTGATATTTATTCTGAAGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATA... | AAAAACCCATTATATTTTCTGGGTAACAAAATTTCAGTGTTATTAACATGTAGGAAGATCTTGATATTTATTCTGAAGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATA... | pathogenic | 126,578 |
Chromosome 7, position 117606672, gene CFTR (CF transmembrane conductance regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cystic_fibrosis'] | AACCCATTATATTTTCTGGGTAACAAAATTTCAGTGTTATTAACATGTAGGAAGATCTTGATATTTATTCTGAAGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGA... | AACCCATTATATTTTCTGGGTAACAAAATTTCAGTGTTATTAACATGTAGGAAGATCTTGATATTTATTCTGAAGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGA... | pathogenic | 126,579 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 117606687, gene CFTR (CF transmembrane conductance regulator): what disease(s) if pathogenic? | pathogenic; ['Cystic_fibrosis'] | CTGGGTAACAAAATTTCAGTGTTATTAACATGTAGGAAGATCTTGATATTTATTCTGAAGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGAGCAGTGATCATGGGC... | CTGGGTAACAAAATTTCAGTGTTATTAACATGTAGGAAGATCTTGATATTTATTCTGAAGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGAGCAGTGATCATGGGC... | pathogenic | 126,581 |
A genetic variant on chromosome 7, position 117606709, affects the gene CFTR (CF transmembrane conductance regulator). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cystic_fibrosis'] | TATTAACATGTAGGAAGATCTTGATATTTATTCTGAAGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGAGCAGTGATCATGGGCAAGTGACTCTTCTGAGCCTTGG... | TATTAACATGTAGGAAGATCTTGATATTTATTCTGAAGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGAGCAGTGATCATGGGCAAGTGACTCTTCTGAGCCTTGG... | pathogenic | 126,585 |
Does the genetic variant at chromosome 7, position 117606745, impacting gene CFTR (CF transmembrane conductance regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | AGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGAGCAGTGATCATGGGCAAGTGACTCTTCTGAGCCTTGGCCTCCTCACCTGTTAAGTGAAGAAAAGAATATTTCA... | AGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGAGCAGTGATCATGGGCAAGTGACTCTTCTGAGCCTTGGCCTCCTCACCTGTTAAGTGAAGAAAAGAATATTTCA... | pathogenic | 126,587 |
Regarding the variant found on chromosome 7 at position 117610521 in gene CFTR: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | AAAGAGCTGGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATA... | AAAGAGCTGGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATA... | pathogenic | 126,598 |
A genetic variant at chromosome 7, position 117610523, affecting gene CFTR—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cystic_fibrosis'] | AGAGCTGGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATT... | AGAGCTGGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATT... | pathogenic | 126,599 |
Does the variant on chromosome 7 at location 117610523 affecting gene CFTR have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cystic_fibrosis'] | AGAGCTGGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATT... | AGAGCTGGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATT... | pathogenic | 126,600 |
Variant in CFTR, chromosome 7, position 117610526—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cystic_fibrosis'] | GCTGGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCA... | GCTGGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCA... | pathogenic | 126,602 |
Is chromosome 7, position 117610527, gene CFTR variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cystic_fibrosis'] | CTGGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAG... | CTGGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAG... | pathogenic | 126,603 |
Clinical classification of chromosome 7, position 117610529, gene CFTR: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | GGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAA... | GGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAA... | pathogenic | 126,604 |
A mutation at chromosome position 117610538 on chromosome 7 in gene CFTR: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cystic_fibrosis'] | GGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTG... | GGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTG... | pathogenic | 126,607 |
Located at chromosome 7 position 117610540, the variant affecting gene CFTR—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cystic_fibrosis'] | TGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTT... | TGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTT... | pathogenic | 126,608 |
Evaluate if the mutation on chromosome 7 at position 117610543 in CFTR is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cystic_fibrosis'] | GAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCA... | GAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCA... | pathogenic | 126,609 |
Does the variant impacting CFTR on chromosome 7, position 117610551, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | GCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAA... | GCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAA... | pathogenic | 126,612 |
Considering the variant on chromosome 7, location 117610566, involving gene CFTR, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | CAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAAT... | CAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAAT... | pathogenic | 126,616 |
Considering the genetic mutation at chromosome 7, position 117610566, impacting CFTR: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | CAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAAT... | CAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAAT... | pathogenic | 126,617 |
Does the chromosome 7 mutation at position 117610592 within gene CFTR classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | TTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAATTTTCTTTTTTTAAAAAAAAGTCTCTG... | TTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAATTTTCTTTTTTTAAAAAAAAGTCTCTG... | pathogenic | 126,620 |
Does the variant on chromosome 7 at location 117610592 affecting gene CFTR have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cystic_fibrosis'] | TTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAATTTTCTTTTTTTAAAAAAAAGTCTCTG... | TTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAATTTTCTTTTTTTAAAAAAAAGTCTCTG... | pathogenic | 126,621 |
Variant at chromosome position 117610668, chromosome 7, gene CFTR: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | AAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAATTTTCTTTTTTTAAAAAAAAGTCTCTGTTCACTCTATTTTCTATTATTTTTCTCTTTTTAAAATTTGAATTTTATTGTGGCAAGTCCACTTAACATGAGATTT... | AAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAATTTTCTTTTTTTAAAAAAAAGTCTCTGTTCACTCTATTTTCTATTATTTTTCTCTTTTTAAAATTTGAATTTTATTGTGGCAAGTCCACTTAACATGAGATTT... | pathogenic | 126,632 |
Gene CFTR variant at chromosome position 117610668 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | AAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAATTTTCTTTTTTTAAAAAAAAGTCTCTGTTCACTCTATTTTCTATTATTTTTCTCTTTTTAAAATTTGAATTTTATTGTGGCAAGTCCACTTAACATGAGATTT... | AAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAATTTTCTTTTTTTAAAAAAAAGTCTCTGTTCACTCTATTTTCTATTATTTTTCTCTTTTTAAAATTTGAATTTTATTGTGGCAAGTCCACTTAACATGAGATTT... | pathogenic | 126,633 |
Regarding the variant at chromosome 7 and position 117611601, affecting gene CFTR: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cystic_fibrosis'] | AATGTAGAAATATAGAAATTTATTAAGTATGATTTATTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTT... | AATGTAGAAATATAGAAATTTATTAAGTATGATTTATTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTT... | pathogenic | 126,646 |
Mutation found at chromosome 7 position 117611656, gene CFTR: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cystic_fibrosis'] | AAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGC... | AAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGC... | pathogenic | 126,662 |
Is the genetic change at chromosome 7, position 117611667, within gene CFTR benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cystic_fibrosis'] | CGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAAT... | CGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAAT... | pathogenic | 126,665 |
Gene mutation in CFTR at chromosome 7, position 117611670—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | AAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTA... | AAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTA... | pathogenic | 126,666 |
Is the genetic variant on chromosome 7, position 117611704, gene CFTR, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cystic_fibrosis'] | ATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAA... | ATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAA... | pathogenic | 126,670 |
Evaluate the clinical significance of the mutation at chromosome 7, position 117611762 in gene CFTR: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cystic_fibrosis'] | ACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATA... | ACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATA... | pathogenic | 126,691 |
A mutation at chromosome position 117611764 on chromosome 7 in gene CFTR: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cystic_fibrosis'] | TGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACA... | TGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACA... | pathogenic | 126,692 |
A genetic variant at chromosome 7, position 117614596, affecting gene CFTR (CF transmembrane conductance regulator)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TATGATAAGTGTTGAAATAACTTCTTATATGTGACAGTGAATACTGGCAGAGCAAATGCCAAATCAATGCCAAATCTGTAGGATCATTTGATTGTAGGAACAGAATTCTACTCAAACCGAAAGCAGGCATTTGCTGGAGTTACAGAAAGGCCTCATGGAACACCGAGAAGGTGGTGCCATTCGACTCTTAAAGAAGCTGCAACAGGCACAAGAGAGTCAGCTGCAGCTCTTCTTCTTGAGTCTATATCTGTCCTGGGTCCATTCCTTTTTGTGGTTGCTTCATTCCTTTCTCTCTCTGAAGACTGGTTTTTCTGGTCTAC... | TATGATAAGTGTTGAAATAACTTCTTATATGTGACAGTGAATACTGGCAGAGCAAATGCCAAATCAATGCCAAATCTGTAGGATCATTTGATTGTAGGAACAGAATTCTACTCAAACCGAAAGCAGGCATTTGCTGGAGTTACAGAAAGGCCTCATGGAACACCGAGAAGGTGGTGCCATTCGACTCTTAAAGAAGCTGCAACAGGCACAAGAGAGTCAGCTGCAGCTCTTCTTCTTGAGTCTATATCTGTCCTGGGTCCATTCCTTTTTGTGGTTGCTTCATTCCTTTCTCTCTCTGAAGACTGGTTTTTCTGGTCTAC... | benign | 126,701 |
Is the variant located on chromosome 7 at position 117614649, 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'] | AAATGCCAAATCAATGCCAAATCTGTAGGATCATTTGATTGTAGGAACAGAATTCTACTCAAACCGAAAGCAGGCATTTGCTGGAGTTACAGAAAGGCCTCATGGAACACCGAGAAGGTGGTGCCATTCGACTCTTAAAGAAGCTGCAACAGGCACAAGAGAGTCAGCTGCAGCTCTTCTTCTTGAGTCTATATCTGTCCTGGGTCCATTCCTTTTTGTGGTTGCTTCATTCCTTTCTCTCTCTGAAGACTGGTTTTTCTGGTCTACCAGGGCTATGCCACATTGACTTTATGTAGTGTCTCCATTCTGGCCTCCTGAAT... | AAATGCCAAATCAATGCCAAATCTGTAGGATCATTTGATTGTAGGAACAGAATTCTACTCAAACCGAAAGCAGGCATTTGCTGGAGTTACAGAAAGGCCTCATGGAACACCGAGAAGGTGGTGCCATTCGACTCTTAAAGAAGCTGCAACAGGCACAAGAGAGTCAGCTGCAGCTCTTCTTCTTGAGTCTATATCTGTCCTGGGTCCATTCCTTTTTGTGGTTGCTTCATTCCTTTCTCTCTCTGAAGACTGGTTTTTCTGGTCTACCAGGGCTATGCCACATTGACTTTATGTAGTGTCTCCATTCTGGCCTCCTGAAT... | pathogenic | 126,706 |
The mutation impacting CFTR (CF transmembrane conductance regulator) on chromosome 7 at position 117614714: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | GAAAGCAGGCATTTGCTGGAGTTACAGAAAGGCCTCATGGAACACCGAGAAGGTGGTGCCATTCGACTCTTAAAGAAGCTGCAACAGGCACAAGAGAGTCAGCTGCAGCTCTTCTTCTTGAGTCTATATCTGTCCTGGGTCCATTCCTTTTTGTGGTTGCTTCATTCCTTTCTCTCTCTGAAGACTGGTTTTTCTGGTCTACCAGGGCTATGCCACATTGACTTTATGTAGTGTCTCCATTCTGGCCTCCTGAATTTACAGGAGAGTTCCTCTGTACAAACTCAAAGTCCTGGAGAGAACAGAAAACAGCTTCCTTTTGG... | GAAAGCAGGCATTTGCTGGAGTTACAGAAAGGCCTCATGGAACACCGAGAAGGTGGTGCCATTCGACTCTTAAAGAAGCTGCAACAGGCACAAGAGAGTCAGCTGCAGCTCTTCTTCTTGAGTCTATATCTGTCCTGGGTCCATTCCTTTTTGTGGTTGCTTCATTCCTTTCTCTCTCTGAAGACTGGTTTTTCTGGTCTACCAGGGCTATGCCACATTGACTTTATGTAGTGTCTCCATTCTGGCCTCCTGAATTTACAGGAGAGTTCCTCTGTACAAACTCAAAGTCCTGGAGAGAACAGAAAACAGCTTCCTTTTGG... | pathogenic | 126,716 |
Variant chromosome 7, position 117627537, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Disease(s)? | pathogenic; ['Cystic_fibrosis'] | TGTGTAATTTTGAGTCATTTAGATAGCAACAGTTAAATGTTTTATAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCT... | TGTGTAATTTTGAGTCATTTAGATAGCAACAGTTAAATGTTTTATAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCT... | pathogenic | 126,728 |
Mutation at chromosome 7, position 117627542, within CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | AATTTTGAGTCATTTAGATAGCAACAGTTAAATGTTTTATAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAG... | AATTTTGAGTCATTTAGATAGCAACAGTTAAATGTTTTATAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAG... | pathogenic | 126,729 |
Chromosome 7, position 117627547, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TGAGTCATTTAGATAGCAACAGTTAAATGTTTTATAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTT... | TGAGTCATTTAGATAGCAACAGTTAAATGTTTTATAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTT... | pathogenic | 126,730 |
Mutation found at chromosome 7 position 117627579, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, indicate 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'] | TATAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAG... | TATAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAG... | pathogenic | 126,732 |
Is the genetic change at chromosome 7, position 117627581, within gene CFTR (CF transmembrane conductance regulator) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | TAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTG... | TAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTG... | pathogenic | 126,733 |
Does the genetic variant at chromosome 7, position 117627584, impacting gene CFTR (CF transmembrane conductance regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | ATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACA... | ATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACA... | pathogenic | 126,734 |
Clinical classification of chromosome 7, position 117627585, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | TTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAG... | TTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAG... | pathogenic | 126,735 |
Regarding the variant found on chromosome 7 at position 117627590 in gene CFTR (CF transmembrane conductance regulator): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cystic_fibrosis'] | TGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGA... | TGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGA... | pathogenic | 126,736 |
Gene mutation in CFTR (CF transmembrane conductance regulator) at chromosome 7, position 117627598—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTT... | TTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTT... | pathogenic | 126,738 |
For chromosome 7, position 117627621, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cystic_fibrosis'] | ATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATG... | ATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATG... | pathogenic | 126,740 |
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