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 |
|---|---|---|---|---|---|
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 117627650, gene CFTR (CF transmembrane conductance regulator): what disease(s) if pathogenic? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | AAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAA... | AAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAA... | pathogenic | 126,744 |
Is the genetic change at chromosome 7, position 117627657, within gene CFTR (CF transmembrane conductance regulator) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | AGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTC... | AGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTC... | pathogenic | 126,746 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 117627670, gene CFTR (CF transmembrane conductance regulator): what disease(s) if pathogenic? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | GTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATT... | GTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATT... | pathogenic | 126,751 |
Variant in gene CFTR (CF transmembrane conductance regulator), located at chromosome 7 position 117627671: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cystic_fibrosis'] | TATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTT... | TATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTT... | pathogenic | 126,753 |
Located at chromosome 7 position 117627675, the variant affecting gene CFTR (CF transmembrane conductance regulator)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | GAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTTAAAA... | GAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTTAAAA... | pathogenic | 126,756 |
Classify the chromosome 7 variant at position 117627689 affecting gene CFTR (CF transmembrane conductance regulator) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cystic_fibrosis', 'Hereditary_pancreatitis'] | AAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTTAAAATATTACATGTGGAA... | AAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTTAAAATATTACATGTGGAA... | pathogenic | 126,758 |
Variant on chromosome 7, at position 117627711, affecting CFTR (CF transmembrane conductance regulator): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | ACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTTAAAATATTACATGTGGAACAATCATGACTATATGCCTTTT... | ACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTTAAAATATTACATGTGGAACAATCATGACTATATGCCTTTT... | pathogenic | 126,759 |
Considering the genetic mutation at chromosome 7, position 117627741, impacting CFTR (CF transmembrane conductance regulator): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | AATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTTAAAATATTACATGTGGAACAATCATGACTATATGCCTTTTACTTTCTCTATCATTATTTAGGTTGTGGGC... | AATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTTAAAATATTACATGTGGAACAATCATGACTATATGCCTTTTACTTTCTCTATCATTATTTAGGTTGTGGGC... | pathogenic | 126,761 |
The mutation impacting CFTR (CF transmembrane conductance regulator) on chromosome 7 at position 117627747: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cystic_fibrosis'] | TTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTTAAAATATTACATGTGGAACAATCATGACTATATGCCTTTTACTTTCTCTATCATTATTTAGGTTGTGGGCTTTGGG... | TTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTTAAAATATTACATGTGGAACAATCATGACTATATGCCTTTTACTTTCTCTATCATTATTTAGGTTGTGGGCTTTGGG... | pathogenic | 126,762 |
Located at chromosome 7 position 117642459, the variant affecting gene CFTR (CF transmembrane conductance regulator)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | ACCTAAAAACTGAGTTCTCTAAAAATTTTAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGT... | ACCTAAAAACTGAGTTCTCTAAAAATTTTAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGT... | pathogenic | 126,786 |
Variant at chromosome position 117642463, 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', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | AAAAACTGAGTTCTCTAAAAATTTTAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCAT... | AAAAACTGAGTTCTCTAAAAATTTTAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCAT... | pathogenic | 126,788 |
Chromosome 7, position 117642464, gene CFTR (CF transmembrane conductance regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | AAAACTGAGTTCTCTAAAAATTTTAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATT... | AAAACTGAGTTCTCTAAAAATTTTAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATT... | pathogenic | 126,789 |
The mutation impacting CFTR (CF transmembrane conductance regulator) on chromosome 7 at position 117642487: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | TAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAAT... | TAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAAT... | pathogenic | 126,795 |
Does the chromosome 7 mutation at position 117642507 within gene CFTR (CF transmembrane conductance regulator) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cystic_fibrosis'] | AAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATT... | AAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATT... | pathogenic | 126,799 |
Variant in gene CFTR (CF transmembrane conductance regulator), located at chromosome 7 position 117642527: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cystic_fibrosis'] | CTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATCC... | CTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATCC... | pathogenic | 126,804 |
Assess the variant on chromosome 7, position 117642547, impacting CFTR (CF transmembrane conductance regulator): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cystic_fibrosis'] | GACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATCCATTATTTGTTAGATCAGCTA... | GACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATCCATTATTTGTTAGATCAGCTA... | pathogenic | 126,806 |
Regarding the variant found on chromosome 7 at position 117652845 in gene CFTR (CF transmembrane conductance regulator): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | TGCTGAGTACTGATGGGCTCTTTATGTACCCATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGA... | TGCTGAGTACTGATGGGCTCTTTATGTACCCATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGA... | pathogenic | 126,823 |
Variant at chromosome position 117652850, chromosome 7, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | AGTACTGATGGGCTCTTTATGTACCCATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGG... | AGTACTGATGGGCTCTTTATGTACCCATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGG... | pathogenic | 126,824 |
Chromosome 7, position 117652851, gene CFTR (CF transmembrane conductance regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | GTACTGATGGGCTCTTTATGTACCCATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGT... | GTACTGATGGGCTCTTTATGTACCCATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGT... | pathogenic | 126,825 |
Variant in CFTR (CF transmembrane conductance regulator), chromosome 7, position 117652851—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | GTACTGATGGGCTCTTTATGTACCCATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGT... | GTACTGATGGGCTCTTTATGTACCCATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGT... | pathogenic | 126,826 |
The mutation in gene CFTR (CF transmembrane conductance regulator) at chromosome 7, position 117652858—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | TGGGCTCTTTATGTACCCATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGTTCATGAT... | TGGGCTCTTTATGTACCCATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGTTCATGAT... | pathogenic | 126,827 |
Gene mutation in CFTR (CF transmembrane conductance regulator) at chromosome 7, position 117652865—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cystic_fibrosis'] | TTTATGTACCCATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGTTCATGATAAGTCTG... | TTTATGTACCCATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGTTCATGATAAGTCTG... | pathogenic | 126,828 |
Is the variant located on chromosome 7 at position 117652870, gene CFTR (CF transmembrane conductance regulator), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | GTACCCATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGTTCATGATAAGTCTGCCATA... | GTACCCATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGTTCATGATAAGTCTGCCATA... | pathogenic | 126,829 |
Evaluate if the mutation on chromosome 7 at position 117652907 in CFTR (CF transmembrane conductance regulator) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGTTCATGATAAGTCTGCCATAAATGGGAGCTATGTGTCCCACCCTTTTGGAGGAGATA... | TCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGTTCATGATAAGTCTGCCATAAATGGGAGCTATGTGTCCCACCCTTTTGGAGGAGATA... | pathogenic | 126,840 |
Considering the genetic mutation at chromosome 7, position 117664687, impacting CFTR (CF transmembrane conductance regulator): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cystic_fibrosis', 'Hereditary_pancreatitis'] | GGTCAAACCTACATCTTAGGAAGATCCCTGGGGTGTTTGTATGGTGGACTTGCAATTTGACTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACA... | GGTCAAACCTACATCTTAGGAAGATCCCTGGGGTGTTTGTATGGTGGACTTGCAATTTGACTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACA... | pathogenic | 126,845 |
Chromosome 7, position 117664695, 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', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | CTACATCTTAGGAAGATCCCTGGGGTGTTTGTATGGTGGACTTGCAATTTGACTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAA... | CTACATCTTAGGAAGATCCCTGGGGTGTTTGTATGGTGGACTTGCAATTTGACTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAA... | pathogenic | 126,847 |
Variant in gene CFTR (CF transmembrane conductance regulator), located at chromosome 7 position 117664710: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis'] | ATCCCTGGGGTGTTTGTATGGTGGACTTGCAATTTGACTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCC... | ATCCCTGGGGTGTTTGTATGGTGGACTTGCAATTTGACTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCC... | pathogenic | 126,848 |
Does the variant impacting CFTR (CF transmembrane conductance regulator) on chromosome 7, position 117664720, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cystic_fibrosis'] | TGTTTGTATGGTGGACTTGCAATTTGACTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTG... | TGTTTGTATGGTGGACTTGCAATTTGACTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTG... | pathogenic | 126,851 |
Variant chromosome 7, position 117664747, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Disease(s)? | pathogenic; ['Cystic_fibrosis'] | CTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGAT... | CTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGAT... | pathogenic | 126,853 |
Is the variant located on chromosome 7 at position 117664758, gene CFTR (CF transmembrane conductance regulator), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cystic_fibrosis'] | TTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAA... | TTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAA... | pathogenic | 126,856 |
Variant in CFTR (CF transmembrane conductance regulator), chromosome 7, position 117664758—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | TTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAA... | TTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAA... | pathogenic | 126,857 |
Chromosome 7, position 117664780, gene CFTR (CF transmembrane conductance regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cystic_fibrosis'] | TGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAAGGAAAATTCTTGTGGTGGGAAG... | TGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAAGGAAAATTCTTGTGGTGGGAAG... | pathogenic | 126,862 |
The mutation impacting CFTR (CF transmembrane conductance regulator) on chromosome 7 at position 117664801: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | TCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAAGGAAAATTCTTGTGGTGGGAAGCAGTAGAGATGACAGATACAC... | TCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAAGGAAAATTCTTGTGGTGGGAAGCAGTAGAGATGACAGATACAC... | pathogenic | 126,865 |
Variant at chromosome 7, position 117664809, gene CFTR (CF transmembrane conductance regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | ATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAAGGAAAATTCTTGTGGTGGGAAGCAGTAGAGATGACAGATACACATTAATTT... | ATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAAGGAAAATTCTTGTGGTGGGAAGCAGTAGAGATGACAGATACACATTAATTT... | pathogenic | 126,866 |
Chromosome 7, position 117664849, gene CFTR (CF transmembrane conductance regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cystic_fibrosis'] | GAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAAGGAAAATTCTTGTGGTGGGAAGCAGTAGAGATGACAGATACACATTAATTTCTTGAGATTTCTAGATGACTAAATGGGCAGATGTTGAATG... | GAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAAGGAAAATTCTTGTGGTGGGAAGCAGTAGAGATGACAGATACACATTAATTTCTTGAGATTTCTAGATGACTAAATGGGCAGATGTTGAATG... | pathogenic | 126,875 |
Does the variant impacting CFTR (CF transmembrane conductance regulator) on chromosome 7, position 117665466, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | GAGATTACTTTAATGAGAAACCAACCAAGGAAAGGAGTATCATCTGCAATATACTTTCAAATGTTTTTTGCTTGTTTGTTTCTTGTCCAGCTAAAAAAAAAAAAAAAAAACAAGCCATTGGTCCTAACACAACTTTCATATTCTACCCCAATATCAAAGAGGCTTAAAATCTCCTGGTCGTGTGATGGGCACACAGTTAATTTTTTGTGAACAAACACAGTGTTATGGGCCATTTCTGAATTTATCTCTGAAATCATAAGATTCTTTCTGAGCCATTATCTCATTCTATATTACAGTCAGGTGGAGCCCATCTTACCTCC... | GAGATTACTTTAATGAGAAACCAACCAAGGAAAGGAGTATCATCTGCAATATACTTTCAAATGTTTTTTGCTTGTTTGTTTCTTGTCCAGCTAAAAAAAAAAAAAAAAAACAAGCCATTGGTCCTAACACAACTTTCATATTCTACCCCAATATCAAAGAGGCTTAAAATCTCCTGGTCGTGTGATGGGCACACAGTTAATTTTTTGTGAACAAACACAGTGTTATGGGCCATTTCTGAATTTATCTCTGAAATCATAAGATTCTTTCTGAGCCATTATCTCATTCTATATTACAGTCAGGTGGAGCCCATCTTACCTCC... | pathogenic | 126,882 |
Variant in gene CFTR (CF transmembrane conductance regulator), located at chromosome 7 position 117665515: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | TATACTTTCAAATGTTTTTTGCTTGTTTGTTTCTTGTCCAGCTAAAAAAAAAAAAAAAAAACAAGCCATTGGTCCTAACACAACTTTCATATTCTACCCCAATATCAAAGAGGCTTAAAATCTCCTGGTCGTGTGATGGGCACACAGTTAATTTTTTGTGAACAAACACAGTGTTATGGGCCATTTCTGAATTTATCTCTGAAATCATAAGATTCTTTCTGAGCCATTATCTCATTCTATATTACAGTCAGGTGGAGCCCATCTTACCTCCTCATACTAAATTCTAGACTTCTCAAGGGCAGGAGACAATCATCTGTATA... | TATACTTTCAAATGTTTTTTGCTTGTTTGTTTCTTGTCCAGCTAAAAAAAAAAAAAAAAAACAAGCCATTGGTCCTAACACAACTTTCATATTCTACCCCAATATCAAAGAGGCTTAAAATCTCCTGGTCGTGTGATGGGCACACAGTTAATTTTTTGTGAACAAACACAGTGTTATGGGCCATTTCTGAATTTATCTCTGAAATCATAAGATTCTTTCTGAGCCATTATCTCATTCTATATTACAGTCAGGTGGAGCCCATCTTACCTCCTCATACTAAATTCTAGACTTCTCAAGGGCAGGAGACAATCATCTGTATA... | pathogenic | 126,886 |
Evaluate this variant at chromosome 7, position 117665519, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | CTTTCAAATGTTTTTTGCTTGTTTGTTTCTTGTCCAGCTAAAAAAAAAAAAAAAAAACAAGCCATTGGTCCTAACACAACTTTCATATTCTACCCCAATATCAAAGAGGCTTAAAATCTCCTGGTCGTGTGATGGGCACACAGTTAATTTTTTGTGAACAAACACAGTGTTATGGGCCATTTCTGAATTTATCTCTGAAATCATAAGATTCTTTCTGAGCCATTATCTCATTCTATATTACAGTCAGGTGGAGCCCATCTTACCTCCTCATACTAAATTCTAGACTTCTCAAGGGCAGGAGACAATCATCTGTATATCTC... | CTTTCAAATGTTTTTTGCTTGTTTGTTTCTTGTCCAGCTAAAAAAAAAAAAAAAAAACAAGCCATTGGTCCTAACACAACTTTCATATTCTACCCCAATATCAAAGAGGCTTAAAATCTCCTGGTCGTGTGATGGGCACACAGTTAATTTTTTGTGAACAAACACAGTGTTATGGGCCATTTCTGAATTTATCTCTGAAATCATAAGATTCTTTCTGAGCCATTATCTCATTCTATATTACAGTCAGGTGGAGCCCATCTTACCTCCTCATACTAAATTCTAGACTTCTCAAGGGCAGGAGACAATCATCTGTATATCTC... | pathogenic | 126,888 |
Is the genetic variant on chromosome 7, position 117666871, gene CFTR, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGAT... | TTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGAT... | benign | 126,904 |
Mutation at chromosome 7, position 117666914, within CFTR: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis', 'Hereditary_pancreatitis', 'likely other unspecified diseases'] | TTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCC... | TTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCC... | pathogenic | 126,906 |
Benign or pathogenic: chromosome 7, position 117666916, gene CFTR variant? Disease(s) if pathogenic? | pathogenic; ['Cystic_fibrosis'] | TCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCA... | TCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCA... | pathogenic | 126,907 |
The chromosome 7, position 117666961 genetic variant in gene CFTR: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | TGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCAT... | TGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCAT... | pathogenic | 126,917 |
Is the genetic change at chromosome 7, position 117666990, within gene CFTR benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cystic_fibrosis'] | TTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCC... | TTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCC... | pathogenic | 126,919 |
A genetic alteration at chromosome 7, position 117667004, in gene CFTR—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | CTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGA... | CTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGA... | pathogenic | 126,923 |
Evaluate this variant at chromosome 7, position 117667232, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGA... | CCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGA... | benign | 126,936 |
Located at chromosome 7 position 120747664, the variant affecting gene KCND2 (potassium voltage-gated channel subfamily D member 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AAAGAAGTGGTTTTGATGTCAATCTTTATGAAAATGGTTTTATTTAACCATTGTATCAAGTCTAACTATACTTGGGCAGATTTGAGCTTTAAAAATAAAGCTATGTATTTCGTTTTTAAAAATGTGCTTCTCTGTTTCTTCATTTACTTACAACTGTGGAACAGAATCACGAGTTTGTGGACGAACAAGTCTTTGAAGAAAGCTGCATGGAAGTTGCAACTGTTAATCGTCCTTCAAGTCACAGTCCTTCACTGTCTTCACAACAAGGAGTCACCAGCACCTGCTGTTCACGACGACACAAAAAAACTTTTCGCATCCCA... | AAAGAAGTGGTTTTGATGTCAATCTTTATGAAAATGGTTTTATTTAACCATTGTATCAAGTCTAACTATACTTGGGCAGATTTGAGCTTTAAAAATAAAGCTATGTATTTCGTTTTTAAAAATGTGCTTCTCTGTTTCTTCATTTACTTACAACTGTGGAACAGAATCACGAGTTTGTGGACGAACAAGTCTTTGAAGAAAGCTGCATGGAAGTTGCAACTGTTAATCGTCCTTCAAGTCACAGTCCTTCACTGTCTTCACAACAAGGAGTCACCAGCACCTGCTGTTCACGACGACACAAAAAAACTTTTCGCATCCCA... | benign | 126,966 |
Benign or pathogenic: chromosome 7, position 120806696, gene TSPAN12 (tetraspanin 12) variant? Disease(s) if pathogenic? | benign | TCTTGTGATTGGTTGGATTATGTCCTCCCAAAATTCGTATGTTAAAGAGCTTAGTACCTCAGAATGTGATCTTATTGGAACATAGGATTGTTGCAGATGTAACTAAGATGAGGTCCGACTGGAGGACAGTGGGCCCCTTGTCCAATATGACTGTTGTTCTTATAAAATGGGAAAATTTGGAGACACACAGACAAGGAAAACACCATGTGAAGATGAAACAGATCAGGGTGATTTTTCTAAAAGACGAGGAACCAGGAAAATTGTCAGCACACCACCAGAAGCTAGGGGAGAAGCATGAAATAGATTTCTCCTCATGGCCC... | TCTTGTGATTGGTTGGATTATGTCCTCCCAAAATTCGTATGTTAAAGAGCTTAGTACCTCAGAATGTGATCTTATTGGAACATAGGATTGTTGCAGATGTAACTAAGATGAGGTCCGACTGGAGGACAGTGGGCCCCTTGTCCAATATGACTGTTGTTCTTATAAAATGGGAAAATTTGGAGACACACAGACAAGGAAAACACCATGTGAAGATGAAACAGATCAGGGTGATTTTTCTAAAAGACGAGGAACCAGGAAAATTGTCAGCACACCACCAGAAGCTAGGGGAGAAGCATGAAATAGATTTCTCCTCATGGCCC... | benign | 126,974 |
Mutation at chromosome 7, position 120810470, within TSPAN12 (tetraspanin 12): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Retinal_dystrophy'] | CTACATCTCCTTGTCATTTTCCTGTCTACTTTAATATCATATTGTGAGATAGTACTACTCTTGCTAATGTGTCAAGCTCTAGAAAATACCATCCATTTTACATATGAGTAAACTGAGGCCTTTGACAGTCAAGTAGCTTGCTAAAGTTACAGGCCAGAGTGTGGCACAGTCTATTCCAAAGCCTATGCTCCAACTACTATGTTAAAATAAATAAATAAACACATTTTTTAAAGTTAGTATTCTAAAAACGTATTAAACAAACGTCACTGGGGCTTAAGTGAGAGTCCGCTAAGTTGCGGTATGTGCATAGAATTGCACTG... | CTACATCTCCTTGTCATTTTCCTGTCTACTTTAATATCATATTGTGAGATAGTACTACTCTTGCTAATGTGTCAAGCTCTAGAAAATACCATCCATTTTACATATGAGTAAACTGAGGCCTTTGACAGTCAAGTAGCTTGCTAAAGTTACAGGCCAGAGTGTGGCACAGTCTATTCCAAAGCCTATGCTCCAACTACTATGTTAAAATAAATAAATAAACACATTTTTTAAAGTTAGTATTCTAAAAACGTATTAAACAAACGTCACTGGGGCTTAAGTGAGAGTCCGCTAAGTTGCGGTATGTGCATAGAATTGCACTG... | pathogenic | 126,975 |
Variant in gene TSPAN12 (tetraspanin 12), located at chromosome 7 position 120815787: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Exudative_vitreoretinopathy_5'] | GACACATTTATCATTTGAAAACAGAAAAAAATAAGAGAGACAATCTCTTGACCAGTAAACCACAGAAACCGATTCCCTGGAGTCAAGTACTTTATCACTCCCCTAATAAAGTTACCAGAGACAGGGAGAAAATATGATTTTCAAAGACAGCAAACAAATTCCTATATTAATGGGAGATTTCATGTTGTTAAAAGCTCTTAACTTTGTATTAAACTAGTTAGAATCTGAGCTAACTTTTCACCTTTTCAGGAACTCTCTCTACTTACTTAGTGCCGTTGTACATTGGAAGCATGAGTGTCTTCACAGAGATACATATGTGT... | GACACATTTATCATTTGAAAACAGAAAAAAATAAGAGAGACAATCTCTTGACCAGTAAACCACAGAAACCGATTCCCTGGAGTCAAGTACTTTATCACTCCCCTAATAAAGTTACCAGAGACAGGGAGAAAATATGATTTTCAAAGACAGCAAACAAATTCCTATATTAATGGGAGATTTCATGTTGTTAAAAGCTCTTAACTTTGTATTAAACTAGTTAGAATCTGAGCTAACTTTTCACCTTTTCAGGAACTCTCTCTACTTACTTAGTGCCGTTGTACATTGGAAGCATGAGTGTCTTCACAGAGATACATATGTGT... | pathogenic | 126,980 |
A genetic variant on chromosome 7, position 120838882, affects the gene TSPAN12 (tetraspanin 12). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Exudative_vitreoretinopathy_5'] | GTTTGTCAATTTGCATTACTAGCATCTAAGCAGCCTAAGGGAATGCATAAAGAGTTTTCAAAATGTGTTTCCAAAGCCTTTGTGGTTCCATGAAATACCTGACCCTACTTGCCCTGCCTCCCTCCAGCATCCCACTGCATAGGGACTGTGCAGAGTAAAAGTTGGGAGGAGGGAGGAAATGGCAGTCAGACCTTAATTGGTTATGCAAGAGAGACATCATTGTAAGACTGCGTTTTAAAAAAGAATTCTGAGACTCTTTATTTAAAACTTGAAATATGTTATACTCTACTCAAATTATAGAAGGTTCATGTAAAGTAAGT... | GTTTGTCAATTTGCATTACTAGCATCTAAGCAGCCTAAGGGAATGCATAAAGAGTTTTCAAAATGTGTTTCCAAAGCCTTTGTGGTTCCATGAAATACCTGACCCTACTTGCCCTGCCTCCCTCCAGCATCCCACTGCATAGGGACTGTGCAGAGTAAAAGTTGGGAGGAGGGAGGAAATGGCAGTCAGACCTTAATTGGTTATGCAAGAGAGACATCATTGTAAGACTGCGTTTTAAAAAAGAATTCTGAGACTCTTTATTTAAAACTTGAAATATGTTATACTCTACTCAAATTATAGAAGGTTCATGTAAAGTAAGT... | pathogenic | 126,981 |
Regarding the variant at chromosome 7 and position 124824076, affecting gene POT1 (protection of telomeres 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AACAATACAGGGACAGCATGAGTCAATCCAGTAGTGTCTTAAAAAATGGAAGCTGCAGAAAGTGGAAACTGAGGGTGAGTCTGTACACAAACTTCTTTCTTAAATTTGTGTAATTTAAAATCTGACAGGAAGATTCTATCAGTGTTTACAGAAAGGGGCAGGGATCAAATTGGGGCACAATGAACTACCATTTAGTTGTTGCTCCAGAAATAAAATTCTCCTCTCTGGGTTCCTGATTAGCATAAAGTGCATACATCATCTCTAGAGAAACACTAGATGTTGATGGAATAATTCTTGCTAAAAACTGAAAATTTTTTTAA... | AACAATACAGGGACAGCATGAGTCAATCCAGTAGTGTCTTAAAAAATGGAAGCTGCAGAAAGTGGAAACTGAGGGTGAGTCTGTACACAAACTTCTTTCTTAAATTTGTGTAATTTAAAATCTGACAGGAAGATTCTATCAGTGTTTACAGAAAGGGGCAGGGATCAAATTGGGGCACAATGAACTACCATTTAGTTGTTGCTCCAGAAATAAAATTCTCCTCTCTGGGTTCCTGATTAGCATAAAGTGCATACATCATCTCTAGAGAAACACTAGATGTTGATGGAATAATTCTTGCTAAAAACTGAAAATTTTTTTAA... | benign | 127,066 |
Gene POT1 (protection of telomeres 1) variant at chromosome 7, position 124824076—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AACAATACAGGGACAGCATGAGTCAATCCAGTAGTGTCTTAAAAAATGGAAGCTGCAGAAAGTGGAAACTGAGGGTGAGTCTGTACACAAACTTCTTTCTTAAATTTGTGTAATTTAAAATCTGACAGGAAGATTCTATCAGTGTTTACAGAAAGGGGCAGGGATCAAATTGGGGCACAATGAACTACCATTTAGTTGTTGCTCCAGAAATAAAATTCTCCTCTCTGGGTTCCTGATTAGCATAAAGTGCATACATCATCTCTAGAGAAACACTAGATGTTGATGGAATAATTCTTGCTAAAAACTGAAAATTTTTTTAA... | AACAATACAGGGACAGCATGAGTCAATCCAGTAGTGTCTTAAAAAATGGAAGCTGCAGAAAGTGGAAACTGAGGGTGAGTCTGTACACAAACTTCTTTCTTAAATTTGTGTAATTTAAAATCTGACAGGAAGATTCTATCAGTGTTTACAGAAAGGGGCAGGGATCAAATTGGGGCACAATGAACTACCATTTAGTTGTTGCTCCAGAAATAAAATTCTCCTCTCTGGGTTCCTGATTAGCATAAAGTGCATACATCATCTCTAGAGAAACACTAGATGTTGATGGAATAATTCTTGCTAAAAACTGAAAATTTTTTTAA... | benign | 127,067 |
Evaluate if the mutation on chromosome 7 at position 124827217 in POT1 (protection of telomeres 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | CTTCTAAAAGTCCACAGAGTACATATATGTTAGTGCTATCTCAAGTAAAAGAAGTGTGGGATTGTTAAAATATTCTTGCCTACCAATTTTTATTCCTGGAGGACAAAACATATCCATGATCATATCCACACTTTTCTGAAGGTCATCATCCATCAGAACTTCTGATGCTGGAATCTGGAAGAATTTGTCCTTAAAAATGTTTCATGAGAGAAAAAAAAAGGAAATAATATTAATCCTTTTTAATGTTATTATTAACACATATTTCAATATTGTCCAATTAAAAGATAATCTAGACAGTTTCCCTCTATCAAGATTGTAGA... | CTTCTAAAAGTCCACAGAGTACATATATGTTAGTGCTATCTCAAGTAAAAGAAGTGTGGGATTGTTAAAATATTCTTGCCTACCAATTTTTATTCCTGGAGGACAAAACATATCCATGATCATATCCACACTTTTCTGAAGGTCATCATCCATCAGAACTTCTGATGCTGGAATCTGGAAGAATTTGTCCTTAAAAATGTTTCATGAGAGAAAAAAAAAGGAAATAATATTAATCCTTTTTAATGTTATTATTAACACATATTTCAATATTGTCCAATTAAAAGATAATCTAGACAGTTTCCCTCTATCAAGATTGTAGA... | pathogenic | 127,082 |
Assess the variant on chromosome 7, position 124827227, impacting POT1 (protection of telomeres 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | TCCACAGAGTACATATATGTTAGTGCTATCTCAAGTAAAAGAAGTGTGGGATTGTTAAAATATTCTTGCCTACCAATTTTTATTCCTGGAGGACAAAACATATCCATGATCATATCCACACTTTTCTGAAGGTCATCATCCATCAGAACTTCTGATGCTGGAATCTGGAAGAATTTGTCCTTAAAAATGTTTCATGAGAGAAAAAAAAAGGAAATAATATTAATCCTTTTTAATGTTATTATTAACACATATTTCAATATTGTCCAATTAAAAGATAATCTAGACAGTTTCCCTCTATCAAGATTGTAGAATTCATAAAC... | TCCACAGAGTACATATATGTTAGTGCTATCTCAAGTAAAAGAAGTGTGGGATTGTTAAAATATTCTTGCCTACCAATTTTTATTCCTGGAGGACAAAACATATCCATGATCATATCCACACTTTTCTGAAGGTCATCATCCATCAGAACTTCTGATGCTGGAATCTGGAAGAATTTGTCCTTAAAAATGTTTCATGAGAGAAAAAAAAAGGAAATAATATTAATCCTTTTTAATGTTATTATTAACACATATTTCAATATTGTCCAATTAAAAGATAATCTAGACAGTTTCCCTCTATCAAGATTGTAGAATTCATAAAC... | pathogenic | 127,085 |
Variant in gene POT1 (protection of telomeres 1), located at chromosome 7 position 124827315: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GAGGACAAAACATATCCATGATCATATCCACACTTTTCTGAAGGTCATCATCCATCAGAACTTCTGATGCTGGAATCTGGAAGAATTTGTCCTTAAAAATGTTTCATGAGAGAAAAAAAAAGGAAATAATATTAATCCTTTTTAATGTTATTATTAACACATATTTCAATATTGTCCAATTAAAAGATAATCTAGACAGTTTCCCTCTATCAAGATTGTAGAATTCATAAACTAGAATGCTGGTCTCAACTCCAAAATCTTATTTACTCTTTAATCTTAAAATAGCTTTGAGATACACGTAATCAAGTAAATTGCTCTGA... | GAGGACAAAACATATCCATGATCATATCCACACTTTTCTGAAGGTCATCATCCATCAGAACTTCTGATGCTGGAATCTGGAAGAATTTGTCCTTAAAAATGTTTCATGAGAGAAAAAAAAAGGAAATAATATTAATCCTTTTTAATGTTATTATTAACACATATTTCAATATTGTCCAATTAAAAGATAATCTAGACAGTTTCCCTCTATCAAGATTGTAGAATTCATAAACTAGAATGCTGGTCTCAACTCCAAAATCTTATTTACTCTTTAATCTTAAAATAGCTTTGAGATACACGTAATCAAGTAAATTGCTCTGA... | benign | 127,104 |
Chromosome 7, position 124829331, gene POT1 (protection of telomeres 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | TTGGAGGGGTACAATACCCAGTGCTAGTGAAGGAAAAAAAGATCAAACCATATGAGTCTGCTATTCCTTATTATCAAGGTAAAGTTAAAATTGTTTTATGATAGTATAGACCTGTAAATTTTATTTACTAAAATAACTCAAGATACAAAGAAAAACTTGGCATTATCTCCAGGTAGATAGTGTCAGAATTGAACTGGAGGACACCCAGCTGGCGTCTGCTGAGGGATTGCCTGCTTGGTGTGTGGGTGAAAACCCCTATGCATTTGGTCACATAAGTCTTCTGCGCTGATTGCTGTGGTGGCAGAGCAGAGGACAGTTTG... | TTGGAGGGGTACAATACCCAGTGCTAGTGAAGGAAAAAAAGATCAAACCATATGAGTCTGCTATTCCTTATTATCAAGGTAAAGTTAAAATTGTTTTATGATAGTATAGACCTGTAAATTTTATTTACTAAAATAACTCAAGATACAAAGAAAAACTTGGCATTATCTCCAGGTAGATAGTGTCAGAATTGAACTGGAGGACACCCAGCTGGCGTCTGCTGAGGGATTGCCTGCTTGGTGTGTGGGTGAAAACCCCTATGCATTTGGTCACATAAGTCTTCTGCGCTGATTGCTGTGGTGGCAGAGCAGAGGACAGTTTG... | pathogenic | 127,117 |
Determine whether the variant at chromosome 7, position 124835242, in gene POT1 (protection of telomeres 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TAACACAGAGATTTAAGTCAGTGGCATACACTTTCGCTTTATGGCTAAAATTTTATGATATGTTGGAAGGACAGAGGGCAATGCCTAACAGTGACTTTACCACACAATTAGGGAGGTATCATGCTTACCGTATAATATTTTTCAACCAGTATATAATTTTTCAATCAGGATTTACACATTATGACAATGACTACTAATTGCTACAAATGTAGAAGTCGGAAAGAAAGAGGAATAGGATGATAAAACATATGTTATAATCCAAGGTTTCTCAAATCAGAATGTGTCCAGGGTGATTGTTTCATCAAGCAGTAGAGGAGATT... | TAACACAGAGATTTAAGTCAGTGGCATACACTTTCGCTTTATGGCTAAAATTTTATGATATGTTGGAAGGACAGAGGGCAATGCCTAACAGTGACTTTACCACACAATTAGGGAGGTATCATGCTTACCGTATAATATTTTTCAACCAGTATATAATTTTTCAATCAGGATTTACACATTATGACAATGACTACTAATTGCTACAAATGTAGAAGTCGGAAAGAAAGAGGAATAGGATGATAAAACATATGTTATAATCCAAGGTTTCTCAAATCAGAATGTGTCCAGGGTGATTGTTTCATCAAGCAGTAGAGGAGATT... | benign | 127,120 |
Variant at chromosome 7, position 124835280, gene POT1 (protection of telomeres 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | TTATGGCTAAAATTTTATGATATGTTGGAAGGACAGAGGGCAATGCCTAACAGTGACTTTACCACACAATTAGGGAGGTATCATGCTTACCGTATAATATTTTTCAACCAGTATATAATTTTTCAATCAGGATTTACACATTATGACAATGACTACTAATTGCTACAAATGTAGAAGTCGGAAAGAAAGAGGAATAGGATGATAAAACATATGTTATAATCCAAGGTTTCTCAAATCAGAATGTGTCCAGGGTGATTGTTTCATCAAGCAGTAGAGGAGATTTTATCCCTACCCCCTCCTTCTAAATGTAGAAATCTGTT... | TTATGGCTAAAATTTTATGATATGTTGGAAGGACAGAGGGCAATGCCTAACAGTGACTTTACCACACAATTAGGGAGGTATCATGCTTACCGTATAATATTTTTCAACCAGTATATAATTTTTCAATCAGGATTTACACATTATGACAATGACTACTAATTGCTACAAATGTAGAAGTCGGAAAGAAAGAGGAATAGGATGATAAAACATATGTTATAATCCAAGGTTTCTCAAATCAGAATGTGTCCAGGGTGATTGTTTCATCAAGCAGTAGAGGAGATTTTATCCCTACCCCCTCCTTCTAAATGTAGAAATCTGTT... | pathogenic | 127,122 |
Determine if the mutation at chromosome 7, position 124841009 in gene POT1 (protection of telomeres 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | AAAGTTTACATGGAAATGCAAAAGATTTACAATAGCCAACACAATACTCAAGAAAAAGAAGAAAGTTGCAGGACAAACACTACACAATTTCAAGAATTACTATATAGCTTTAGAAATAAGGATGGTGTGATATTAGGAAAATAACAGACAGATTAAAACAGAATAGAGAACACAGAAGCAAATTCACACAAACTGGTTTGACAAAGAAGCAAAGGCAATTCAATGGAGAAGGAACAGTCTTTTTAAGAAATGGTACTGGAAAACTGGACATCTGCATGCAAAAAAAAATCTGGACACAGATCTTAGAGCTTTTACAGAAA... | AAAGTTTACATGGAAATGCAAAAGATTTACAATAGCCAACACAATACTCAAGAAAAAGAAGAAAGTTGCAGGACAAACACTACACAATTTCAAGAATTACTATATAGCTTTAGAAATAAGGATGGTGTGATATTAGGAAAATAACAGACAGATTAAAACAGAATAGAGAACACAGAAGCAAATTCACACAAACTGGTTTGACAAAGAAGCAAAGGCAATTCAATGGAGAAGGAACAGTCTTTTTAAGAAATGGTACTGGAAAACTGGACATCTGCATGCAAAAAAAAATCTGGACACAGATCTTAGAGCTTTTACAGAAA... | pathogenic | 127,144 |
A genetic variant on chromosome 7, position 124841019, affects the gene POT1 (protection of telomeres 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | TGGAAATGCAAAAGATTTACAATAGCCAACACAATACTCAAGAAAAAGAAGAAAGTTGCAGGACAAACACTACACAATTTCAAGAATTACTATATAGCTTTAGAAATAAGGATGGTGTGATATTAGGAAAATAACAGACAGATTAAAACAGAATAGAGAACACAGAAGCAAATTCACACAAACTGGTTTGACAAAGAAGCAAAGGCAATTCAATGGAGAAGGAACAGTCTTTTTAAGAAATGGTACTGGAAAACTGGACATCTGCATGCAAAAAAAAATCTGGACACAGATCTTAGAGCTTTTACAGAAATTAAGTGATA... | TGGAAATGCAAAAGATTTACAATAGCCAACACAATACTCAAGAAAAAGAAGAAAGTTGCAGGACAAACACTACACAATTTCAAGAATTACTATATAGCTTTAGAAATAAGGATGGTGTGATATTAGGAAAATAACAGACAGATTAAAACAGAATAGAGAACACAGAAGCAAATTCACACAAACTGGTTTGACAAAGAAGCAAAGGCAATTCAATGGAGAAGGAACAGTCTTTTTAAGAAATGGTACTGGAAAACTGGACATCTGCATGCAAAAAAAAATCTGGACACAGATCTTAGAGCTTTTACAGAAATTAAGTGATA... | pathogenic | 127,146 |
Evaluate if the mutation on chromosome 7 at position 124841041 in POT1 (protection of telomeres 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | TAGCCAACACAATACTCAAGAAAAAGAAGAAAGTTGCAGGACAAACACTACACAATTTCAAGAATTACTATATAGCTTTAGAAATAAGGATGGTGTGATATTAGGAAAATAACAGACAGATTAAAACAGAATAGAGAACACAGAAGCAAATTCACACAAACTGGTTTGACAAAGAAGCAAAGGCAATTCAATGGAGAAGGAACAGTCTTTTTAAGAAATGGTACTGGAAAACTGGACATCTGCATGCAAAAAAAAATCTGGACACAGATCTTAGAGCTTTTACAGAAATTAAGTGATACTGTTTTATATGAGACTCTAAT... | TAGCCAACACAATACTCAAGAAAAAGAAGAAAGTTGCAGGACAAACACTACACAATTTCAAGAATTACTATATAGCTTTAGAAATAAGGATGGTGTGATATTAGGAAAATAACAGACAGATTAAAACAGAATAGAGAACACAGAAGCAAATTCACACAAACTGGTTTGACAAAGAAGCAAAGGCAATTCAATGGAGAAGGAACAGTCTTTTTAAGAAATGGTACTGGAAAACTGGACATCTGCATGCAAAAAAAAATCTGGACACAGATCTTAGAGCTTTTACAGAAATTAAGTGATACTGTTTTATATGAGACTCTAAT... | pathogenic | 127,150 |
Clinical classification of chromosome 7, position 124841090, gene POT1 (protection of telomeres 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | ACACAATTTCAAGAATTACTATATAGCTTTAGAAATAAGGATGGTGTGATATTAGGAAAATAACAGACAGATTAAAACAGAATAGAGAACACAGAAGCAAATTCACACAAACTGGTTTGACAAAGAAGCAAAGGCAATTCAATGGAGAAGGAACAGTCTTTTTAAGAAATGGTACTGGAAAACTGGACATCTGCATGCAAAAAAAAATCTGGACACAGATCTTAGAGCTTTTACAGAAATTAAGTGATACTGTTTTATATGAGACTCTAATGGTGGGTACATGGTATTCTGCATTTGTCAAAACATAAAGAACTGTAAAG... | ACACAATTTCAAGAATTACTATATAGCTTTAGAAATAAGGATGGTGTGATATTAGGAAAATAACAGACAGATTAAAACAGAATAGAGAACACAGAAGCAAATTCACACAAACTGGTTTGACAAAGAAGCAAAGGCAATTCAATGGAGAAGGAACAGTCTTTTTAAGAAATGGTACTGGAAAACTGGACATCTGCATGCAAAAAAAAATCTGGACACAGATCTTAGAGCTTTTACAGAAATTAAGTGATACTGTTTTATATGAGACTCTAATGGTGGGTACATGGTATTCTGCATTTGTCAAAACATAAAGAACTGTAAAG... | pathogenic | 127,156 |
Variant chromosome 7, position 124842862, gene POT1 (protection of telomeres 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | ATTTGAACCTAGTTAACATATATATTCAATTTTGTTAAATTTAAATACTATTTTTACTTTATATGTACTAGGTTGTCTGTAAAATGTATTAAACAATAATTAATTAGGAAAAATATGCAAAAGGAGTATTCTAACAAAACAGTGACTTAAATATCTTACCTTCTATCAAAAGTAGACATTCATTTGAAAGCGGGAGAATACCATTATTTTTCACAAAATGAACTGCTACTTTTCGTCCTTTTTGATTTTTAGTGGTCCAGATTTTTGAATCATATAATGATGTATTTTGTAGCTTGACATCTGGGGTTTTAGTTGCACCA... | ATTTGAACCTAGTTAACATATATATTCAATTTTGTTAAATTTAAATACTATTTTTACTTTATATGTACTAGGTTGTCTGTAAAATGTATTAAACAATAATTAATTAGGAAAAATATGCAAAAGGAGTATTCTAACAAAACAGTGACTTAAATATCTTACCTTCTATCAAAAGTAGACATTCATTTGAAAGCGGGAGAATACCATTATTTTTCACAAAATGAACTGCTACTTTTCGTCCTTTTTGATTTTTAGTGGTCCAGATTTTTGAATCATATAATGATGTATTTTGTAGCTTGACATCTGGGGTTTTAGTTGCACCA... | pathogenic | 127,182 |
Regarding the variant at chromosome 7 and position 124842898, affecting gene POT1 (protection of telomeres 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Long_telomere_syndrome', 'Tumor_predisposition_syndrome_3'] | AAATTTAAATACTATTTTTACTTTATATGTACTAGGTTGTCTGTAAAATGTATTAAACAATAATTAATTAGGAAAAATATGCAAAAGGAGTATTCTAACAAAACAGTGACTTAAATATCTTACCTTCTATCAAAAGTAGACATTCATTTGAAAGCGGGAGAATACCATTATTTTTCACAAAATGAACTGCTACTTTTCGTCCTTTTTGATTTTTAGTGGTCCAGATTTTTGAATCATATAATGATGTATTTTGTAGCTTGACATCTGGGGTTTTAGTTGCACCATCCTGAAAAATTATATCCAAATCGCCCTCATGTGGA... | AAATTTAAATACTATTTTTACTTTATATGTACTAGGTTGTCTGTAAAATGTATTAAACAATAATTAATTAGGAAAAATATGCAAAAGGAGTATTCTAACAAAACAGTGACTTAAATATCTTACCTTCTATCAAAAGTAGACATTCATTTGAAAGCGGGAGAATACCATTATTTTTCACAAAATGAACTGCTACTTTTCGTCCTTTTTGATTTTTAGTGGTCCAGATTTTTGAATCATATAATGATGTATTTTGTAGCTTGACATCTGGGGTTTTAGTTGCACCATCCTGAAAAATTATATCCAAATCGCCCTCATGTGGA... | pathogenic | 127,190 |
The chromosome 7, position 124842904 genetic variant in gene POT1 (protection of telomeres 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | AAATACTATTTTTACTTTATATGTACTAGGTTGTCTGTAAAATGTATTAAACAATAATTAATTAGGAAAAATATGCAAAAGGAGTATTCTAACAAAACAGTGACTTAAATATCTTACCTTCTATCAAAAGTAGACATTCATTTGAAAGCGGGAGAATACCATTATTTTTCACAAAATGAACTGCTACTTTTCGTCCTTTTTGATTTTTAGTGGTCCAGATTTTTGAATCATATAATGATGTATTTTGTAGCTTGACATCTGGGGTTTTAGTTGCACCATCCTGAAAAATTATATCCAAATCGCCCTCATGTGGAACTTCT... | AAATACTATTTTTACTTTATATGTACTAGGTTGTCTGTAAAATGTATTAAACAATAATTAATTAGGAAAAATATGCAAAAGGAGTATTCTAACAAAACAGTGACTTAAATATCTTACCTTCTATCAAAAGTAGACATTCATTTGAAAGCGGGAGAATACCATTATTTTTCACAAAATGAACTGCTACTTTTCGTCCTTTTTGATTTTTAGTGGTCCAGATTTTTGAATCATATAATGATGTATTTTGTAGCTTGACATCTGGGGTTTTAGTTGCACCATCCTGAAAAATTATATCCAAATCGCCCTCATGTGGAACTTCT... | pathogenic | 127,192 |
A genetic variant on chromosome 7, position 124842906, affects the gene POT1 (protection of telomeres 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | ATACTATTTTTACTTTATATGTACTAGGTTGTCTGTAAAATGTATTAAACAATAATTAATTAGGAAAAATATGCAAAAGGAGTATTCTAACAAAACAGTGACTTAAATATCTTACCTTCTATCAAAAGTAGACATTCATTTGAAAGCGGGAGAATACCATTATTTTTCACAAAATGAACTGCTACTTTTCGTCCTTTTTGATTTTTAGTGGTCCAGATTTTTGAATCATATAATGATGTATTTTGTAGCTTGACATCTGGGGTTTTAGTTGCACCATCCTGAAAAATTATATCCAAATCGCCCTCATGTGGAACTTCTTG... | ATACTATTTTTACTTTATATGTACTAGGTTGTCTGTAAAATGTATTAAACAATAATTAATTAGGAAAAATATGCAAAAGGAGTATTCTAACAAAACAGTGACTTAAATATCTTACCTTCTATCAAAAGTAGACATTCATTTGAAAGCGGGAGAATACCATTATTTTTCACAAAATGAACTGCTACTTTTCGTCCTTTTTGATTTTTAGTGGTCCAGATTTTTGAATCATATAATGATGTATTTTGTAGCTTGACATCTGGGGTTTTAGTTGCACCATCCTGAAAAATTATATCCAAATCGCCCTCATGTGGAACTTCTTG... | pathogenic | 127,194 |
A genetic variant at chromosome 7, position 124847002, affecting gene POT1 (protection of telomeres 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | ATTTATCATTGTCACTGTGCCTGTCTTTATCTGTCTCTCACCACATAAATATTATTGAATCATTTGAGAATAACTACCAGACATTATGCCTCCTTTCCTCTAAATCCTCCAGTATGTATTTCAAAAGAAGACATTTTATTGACATAATTACAGGCAATTTTCAACATTAGAACATTTAACTGATTTATTACTATAATCGAATTAATTAACAAACATTACTCAAATTTCTACAATTGTCCTCAAAATGTTCTTCTTAGCATTCATTTTATTTTCAAGTCTAAGATCCAATTCTGGACCATGTATCACATTTAATTCTCATG... | ATTTATCATTGTCACTGTGCCTGTCTTTATCTGTCTCTCACCACATAAATATTATTGAATCATTTGAGAATAACTACCAGACATTATGCCTCCTTTCCTCTAAATCCTCCAGTATGTATTTCAAAAGAAGACATTTTATTGACATAATTACAGGCAATTTTCAACATTAGAACATTTAACTGATTTATTACTATAATCGAATTAATTAACAAACATTACTCAAATTTCTACAATTGTCCTCAAAATGTTCTTCTTAGCATTCATTTTATTTTCAAGTCTAAGATCCAATTCTGGACCATGTATCACATTTAATTCTCATG... | benign | 127,219 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 124851910, gene POT1 (protection of telomeres 1): what disease(s) if pathogenic? | pathogenic; ['High-grade_astrocytoma_with_piloid_features', 'Tumor_predisposition_syndrome_3'] | TTTGGTAAAAATTTAAGAGAAAGAGAAGAGTCATATTGTTTATATATAGGTATATATGTTTGTATAAAGATGAAGTGATTGAAGGAATCACACTAAACTGTTAAATCTTACCTCAGGGAGTAGGGAATAAAGGTATAGTGAAAGCTATTCAACTGGATATTATGACACATATTACAGTGTACTTTAAAAATAATGAATCATTTTAAAAGGAAAAAGAGATTTAAAAAGTATAAAGTATAATTACAAATTATACTGTCTCCAAGTGATTTGTCATCTGAACTAAATTGGTTTCCTAATAGTAGTTCAAGTAATCATACACC... | TTTGGTAAAAATTTAAGAGAAAGAGAAGAGTCATATTGTTTATATATAGGTATATATGTTTGTATAAAGATGAAGTGATTGAAGGAATCACACTAAACTGTTAAATCTTACCTCAGGGAGTAGGGAATAAAGGTATAGTGAAAGCTATTCAACTGGATATTATGACACATATTACAGTGTACTTTAAAAATAATGAATCATTTTAAAAGGAAAAAGAGATTTAAAAAGTATAAAGTATAATTACAAATTATACTGTCTCCAAGTGATTTGTCATCTGAACTAAATTGGTTTCCTAATAGTAGTTCAAGTAATCATACACC... | pathogenic | 127,227 |
Variant chromosome 7, position 124852985, gene POT1 (protection of telomeres 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | ATGACCTAGATTCTAGGTCCCAAAATGCAGAAGTAGAAATTAAGACAGGCCAGGTGTGGTGGCTCAAGCCTGTAATCCCAGAATTTTGGGAGGCTAAGGCAGGAGGATTGCTTGAGACCGGGAGACCAGGAGGTCGAGACCAGTCTGGGCAACATATAGTGAGATCCTGTTTCTACCAAAAAATAAAAAATTAAAAAATTAAGAGTAAAAAAAGCCAGGCATGTTGGCATGTGCAGGACTACAAGTCCTTGCTACTCAGGAGGCTGAGGAGGGAGGATATCACTTGAGCCCAGGAGTTTGAAGCCGCAGTGAGCTATGGT... | ATGACCTAGATTCTAGGTCCCAAAATGCAGAAGTAGAAATTAAGACAGGCCAGGTGTGGTGGCTCAAGCCTGTAATCCCAGAATTTTGGGAGGCTAAGGCAGGAGGATTGCTTGAGACCGGGAGACCAGGAGGTCGAGACCAGTCTGGGCAACATATAGTGAGATCCTGTTTCTACCAAAAAATAAAAAATTAAAAAATTAAGAGTAAAAAAAGCCAGGCATGTTGGCATGTGCAGGACTACAAGTCCTTGCTACTCAGGAGGCTGAGGAGGGAGGATATCACTTGAGCCCAGGAGTTTGAAGCCGCAGTGAGCTATGGT... | pathogenic | 127,236 |
Mutation at chromosome 7, position 124852991, within POT1 (protection of telomeres 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | TAGATTCTAGGTCCCAAAATGCAGAAGTAGAAATTAAGACAGGCCAGGTGTGGTGGCTCAAGCCTGTAATCCCAGAATTTTGGGAGGCTAAGGCAGGAGGATTGCTTGAGACCGGGAGACCAGGAGGTCGAGACCAGTCTGGGCAACATATAGTGAGATCCTGTTTCTACCAAAAAATAAAAAATTAAAAAATTAAGAGTAAAAAAAGCCAGGCATGTTGGCATGTGCAGGACTACAAGTCCTTGCTACTCAGGAGGCTGAGGAGGGAGGATATCACTTGAGCCCAGGAGTTTGAAGCCGCAGTGAGCTATGGTCCTATC... | TAGATTCTAGGTCCCAAAATGCAGAAGTAGAAATTAAGACAGGCCAGGTGTGGTGGCTCAAGCCTGTAATCCCAGAATTTTGGGAGGCTAAGGCAGGAGGATTGCTTGAGACCGGGAGACCAGGAGGTCGAGACCAGTCTGGGCAACATATAGTGAGATCCTGTTTCTACCAAAAAATAAAAAATTAAAAAATTAAGAGTAAAAAAAGCCAGGCATGTTGGCATGTGCAGGACTACAAGTCCTTGCTACTCAGGAGGCTGAGGAGGGAGGATATCACTTGAGCCCAGGAGTTTGAAGCCGCAGTGAGCTATGGTCCTATC... | pathogenic | 127,237 |
Benign or pathogenic: chromosome 7, position 124853059, gene POT1 (protection of telomeres 1) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | ATCCCAGAATTTTGGGAGGCTAAGGCAGGAGGATTGCTTGAGACCGGGAGACCAGGAGGTCGAGACCAGTCTGGGCAACATATAGTGAGATCCTGTTTCTACCAAAAAATAAAAAATTAAAAAATTAAGAGTAAAAAAAGCCAGGCATGTTGGCATGTGCAGGACTACAAGTCCTTGCTACTCAGGAGGCTGAGGAGGGAGGATATCACTTGAGCCCAGGAGTTTGAAGCCGCAGTGAGCTATGGTCCTATCACTGCATTCCAGCCTGGTCGCCAGAGCAAGACACTGTCTCTTAAACAAACAAAAACCCAGAAATTAAG... | ATCCCAGAATTTTGGGAGGCTAAGGCAGGAGGATTGCTTGAGACCGGGAGACCAGGAGGTCGAGACCAGTCTGGGCAACATATAGTGAGATCCTGTTTCTACCAAAAAATAAAAAATTAAAAAATTAAGAGTAAAAAAAGCCAGGCATGTTGGCATGTGCAGGACTACAAGTCCTTGCTACTCAGGAGGCTGAGGAGGGAGGATATCACTTGAGCCCAGGAGTTTGAAGCCGCAGTGAGCTATGGTCCTATCACTGCATTCCAGCCTGGTCGCCAGAGCAAGACACTGTCTCTTAAACAAACAAAAACCCAGAAATTAAG... | pathogenic | 127,245 |
Evaluate the clinical significance of the mutation at chromosome 7, position 124853140 in gene POT1 (protection of telomeres 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATAGTGAGATCCTGTTTCTACCAAAAAATAAAAAATTAAAAAATTAAGAGTAAAAAAAGCCAGGCATGTTGGCATGTGCAGGACTACAAGTCCTTGCTACTCAGGAGGCTGAGGAGGGAGGATATCACTTGAGCCCAGGAGTTTGAAGCCGCAGTGAGCTATGGTCCTATCACTGCATTCCAGCCTGGTCGCCAGAGCAAGACACTGTCTCTTAAACAAACAAAAACCCAGAAATTAAGACAAAGTGGTAAAGGAAAAAACAATGCACACTGAAAGCTTTCAAGTTCAGATTTGACTAGTCACTTATTCAAGCAGACAAT... | ATAGTGAGATCCTGTTTCTACCAAAAAATAAAAAATTAAAAAATTAAGAGTAAAAAAAGCCAGGCATGTTGGCATGTGCAGGACTACAAGTCCTTGCTACTCAGGAGGCTGAGGAGGGAGGATATCACTTGAGCCCAGGAGTTTGAAGCCGCAGTGAGCTATGGTCCTATCACTGCATTCCAGCCTGGTCGCCAGAGCAAGACACTGTCTCTTAAACAAACAAAAACCCAGAAATTAAGACAAAGTGGTAAAGGAAAAAACAATGCACACTGAAAGCTTTCAAGTTCAGATTTGACTAGTCACTTATTCAAGCAGACAAT... | benign | 127,255 |
Considering the variant on chromosome 7, location 124858948, involving gene POT1 (protection of telomeres 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AACAGTCAGTGTTTTCTGATATGTCACAGATGTATGTGCATACATATATACACACAGAGGACAAAAAAGTACAGTCACTATCTTCCTGGACCCTGGATTTAATCTAATTTATTGATTTGAGTTGAGTAAACTTACTTGGTTTGTTGTTGTTTTGTTTTCTAATTACTATTTTTTCTGTAACCCAGAACAGTATTGATGGTGAACTTATTTGTGATACAATGTAGAATGGATATATTTGCTACTCCATGGCCACTGATTTATAAAGGGAAATTGGGCATTGAAATTCAGATCTTCACTCTTACTGTTTTCTTTTAATTTCC... | AACAGTCAGTGTTTTCTGATATGTCACAGATGTATGTGCATACATATATACACACAGAGGACAAAAAAGTACAGTCACTATCTTCCTGGACCCTGGATTTAATCTAATTTATTGATTTGAGTTGAGTAAACTTACTTGGTTTGTTGTTGTTTTGTTTTCTAATTACTATTTTTTCTGTAACCCAGAACAGTATTGATGGTGAACTTATTTGTGATACAATGTAGAATGGATATATTTGCTACTCCATGGCCACTGATTTATAAAGGGAAATTGGGCATTGAAATTCAGATCTTCACTCTTACTGTTTTCTTTTAATTTCC... | benign | 127,257 |
Does the variant on chromosome 7 at location 124859027 affecting gene POT1 (protection of telomeres 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | ATCTTCCTGGACCCTGGATTTAATCTAATTTATTGATTTGAGTTGAGTAAACTTACTTGGTTTGTTGTTGTTTTGTTTTCTAATTACTATTTTTTCTGTAACCCAGAACAGTATTGATGGTGAACTTATTTGTGATACAATGTAGAATGGATATATTTGCTACTCCATGGCCACTGATTTATAAAGGGAAATTGGGCATTGAAATTCAGATCTTCACTCTTACTGTTTTCTTTTAATTTCCTATAAGTAGGCTAGAAGATATTTGTGATGGAGATCACTTCCATTTAATGCTTTAAAAGATTAGCTCTGCAAAGAGACAT... | ATCTTCCTGGACCCTGGATTTAATCTAATTTATTGATTTGAGTTGAGTAAACTTACTTGGTTTGTTGTTGTTTTGTTTTCTAATTACTATTTTTTCTGTAACCCAGAACAGTATTGATGGTGAACTTATTTGTGATACAATGTAGAATGGATATATTTGCTACTCCATGGCCACTGATTTATAAAGGGAAATTGGGCATTGAAATTCAGATCTTCACTCTTACTGTTTTCTTTTAATTTCCTATAAGTAGGCTAGAAGATATTTGTGATGGAGATCACTTCCATTTAATGCTTTAAAAGATTAGCTCTGCAAAGAGACAT... | pathogenic | 127,268 |
The chromosome 7, position 124863524 genetic variant in gene POT1 (protection of telomeres 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | GTTTCTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGGACAGATTGCAAAAATTTTCTCCCATTCTGTAGGTTGGCCTGTTCACTCTGATGATAGTTTCTCTTGCTGTGCAGAAGCTCTTTAACTTTGTCAATTTTGGCTTTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTATTGTTTTAGTCATAAAGTCTTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGGCTTATGTTTAAGTCTTTAATCTATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAG... | GTTTCTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGGACAGATTGCAAAAATTTTCTCCCATTCTGTAGGTTGGCCTGTTCACTCTGATGATAGTTTCTCTTGCTGTGCAGAAGCTCTTTAACTTTGTCAATTTTGGCTTTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTATTGTTTTAGTCATAAAGTCTTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGGCTTATGTTTAAGTCTTTAATCTATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAG... | pathogenic | 127,301 |
The genetic variant at chromosome 7, position 124863566, affecting gene POT1 (protection of telomeres 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | AGATTGCAAAAATTTTCTCCCATTCTGTAGGTTGGCCTGTTCACTCTGATGATAGTTTCTCTTGCTGTGCAGAAGCTCTTTAACTTTGTCAATTTTGGCTTTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTATTGTTTTAGTCATAAAGTCTTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGGCTTATGTTTAAGTCTTTAATCTATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGGTCTACTTTCAGTTTACTGCATATGGCTAGCCAGTCTTCC... | AGATTGCAAAAATTTTCTCCCATTCTGTAGGTTGGCCTGTTCACTCTGATGATAGTTTCTCTTGCTGTGCAGAAGCTCTTTAACTTTGTCAATTTTGGCTTTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTATTGTTTTAGTCATAAAGTCTTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGGCTTATGTTTAAGTCTTTAATCTATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGGTCTACTTTCAGTTTACTGCATATGGCTAGCCAGTCTTCC... | pathogenic | 127,305 |
Determine whether the variant at chromosome 7, position 124863613, in gene POT1 (protection of telomeres 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | GATGATAGTTTCTCTTGCTGTGCAGAAGCTCTTTAACTTTGTCAATTTTGGCTTTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTATTGTTTTAGTCATAAAGTCTTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGGCTTATGTTTAAGTCTTTAATCTATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGGTCTACTTTCAGTTTACTGCATATGGCTAGCCAGTCTTCCCAACACCACTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTT... | GATGATAGTTTCTCTTGCTGTGCAGAAGCTCTTTAACTTTGTCAATTTTGGCTTTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTATTGTTTTAGTCATAAAGTCTTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGGCTTATGTTTAAGTCTTTAATCTATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGGTCTACTTTCAGTTTACTGCATATGGCTAGCCAGTCTTCCCAACACCACTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTT... | pathogenic | 127,313 |
A genetic variant at chromosome 7, position 124863615, affecting gene POT1 (protection of telomeres 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | TGATAGTTTCTCTTGCTGTGCAGAAGCTCTTTAACTTTGTCAATTTTGGCTTTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTATTGTTTTAGTCATAAAGTCTTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGGCTTATGTTTAAGTCTTTAATCTATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGGTCTACTTTCAGTTTACTGCATATGGCTAGCCAGTCTTCCCAACACCACTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTGT... | TGATAGTTTCTCTTGCTGTGCAGAAGCTCTTTAACTTTGTCAATTTTGGCTTTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTATTGTTTTAGTCATAAAGTCTTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGGCTTATGTTTAAGTCTTTAATCTATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGGTCTACTTTCAGTTTACTGCATATGGCTAGCCAGTCTTCCCAACACCACTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTGT... | pathogenic | 127,314 |
Regarding the variant at chromosome 7 and position 124870953, affecting gene POT1 (protection of telomeres 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tumor_predisposition_syndrome_3'] | GAAATCTATGATCAATGTAAAAATTCAATTATATATTGAACTGAATGGTAATGAAGTTATGACAAATTAAAAACTGCTGGATACAACTAGGGCAGTACTTAAAAAATTTATAGTCATAAATGAATATATTACAAAAGAAGTGGCTGAATTATTATAGTAGTACAGTTAATTTTATACAGTGATAATACCGCATCTTTACATTCATTCACATTTCTCTAGACTGTGAATGGAGCCATGCATGGTCTGTTAGTGTTTGTGTATACAAATTGTTGAAAATCTCCAAAAAATTTTCCAAAATACTTATTGAAAAAAGTCTGCAT... | GAAATCTATGATCAATGTAAAAATTCAATTATATATTGAACTGAATGGTAATGAAGTTATGACAAATTAAAAACTGCTGGATACAACTAGGGCAGTACTTAAAAAATTTATAGTCATAAATGAATATATTACAAAAGAAGTGGCTGAATTATTATAGTAGTACAGTTAATTTTATACAGTGATAATACCGCATCTTTACATTCATTCACATTTCTCTAGACTGTGAATGGAGCCATGCATGGTCTGTTAGTGTTTGTGTATACAAATTGTTGAAAATCTCCAAAAAATTTTCCAAAATACTTATTGAAAAAAGTCTGCAT... | pathogenic | 127,324 |
Is the genetic change at chromosome 7, position 124871004, within gene POT1 (protection of telomeres 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Tumor_predisposition_syndrome_3'] | TGAAGTTATGACAAATTAAAAACTGCTGGATACAACTAGGGCAGTACTTAAAAAATTTATAGTCATAAATGAATATATTACAAAAGAAGTGGCTGAATTATTATAGTAGTACAGTTAATTTTATACAGTGATAATACCGCATCTTTACATTCATTCACATTTCTCTAGACTGTGAATGGAGCCATGCATGGTCTGTTAGTGTTTGTGTATACAAATTGTTGAAAATCTCCAAAAAATTTTCCAAAATACTTATTGAAAAAAGTCTGCATATAAGTGTACCCATGTAGTTCAAACCTGTGTTGTTGAAGGGGTAACTATAT... | TGAAGTTATGACAAATTAAAAACTGCTGGATACAACTAGGGCAGTACTTAAAAAATTTATAGTCATAAATGAATATATTACAAAAGAAGTGGCTGAATTATTATAGTAGTACAGTTAATTTTATACAGTGATAATACCGCATCTTTACATTCATTCACATTTCTCTAGACTGTGAATGGAGCCATGCATGGTCTGTTAGTGTTTGTGTATACAAATTGTTGAAAATCTCCAAAAAATTTTCCAAAATACTTATTGAAAAAAGTCTGCATATAAGTGTACCCATGTAGTTCAAACCTGTGTTGTTGAAGGGGTAACTATAT... | pathogenic | 127,330 |
Gene POT1 (protection of telomeres 1) variant at chromosome position 124871018 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Long_telomere_syndrome', 'Tumor_predisposition_syndrome_3'] | ATTAAAAACTGCTGGATACAACTAGGGCAGTACTTAAAAAATTTATAGTCATAAATGAATATATTACAAAAGAAGTGGCTGAATTATTATAGTAGTACAGTTAATTTTATACAGTGATAATACCGCATCTTTACATTCATTCACATTTCTCTAGACTGTGAATGGAGCCATGCATGGTCTGTTAGTGTTTGTGTATACAAATTGTTGAAAATCTCCAAAAAATTTTCCAAAATACTTATTGAAAAAAGTCTGCATATAAGTGTACCCATGTAGTTCAAACCTGTGTTGTTGAAGGGGTAACTATATGCTGTTAGAGGTCA... | ATTAAAAACTGCTGGATACAACTAGGGCAGTACTTAAAAAATTTATAGTCATAAATGAATATATTACAAAAGAAGTGGCTGAATTATTATAGTAGTACAGTTAATTTTATACAGTGATAATACCGCATCTTTACATTCATTCACATTTCTCTAGACTGTGAATGGAGCCATGCATGGTCTGTTAGTGTTTGTGTATACAAATTGTTGAAAATCTCCAAAAAATTTTCCAAAATACTTATTGAAAAAAGTCTGCATATAAGTGTACCCATGTAGTTCAAACCTGTGTTGTTGAAGGGGTAACTATATGCTGTTAGAGGTCA... | pathogenic | 127,332 |
Variant at chromosome position 124898382, chromosome 7, gene POT1 (protection of telomeres 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAATATTTTAAATTAAACAATTTATAACAATTTTGGGAAATACTAATACCAGAGCTAACTCACATTTTTCAAAAAGTACATCAGTTCTTTTATTGGTAACAGTTCCCCCAAAAATATTAATTATACTAATACTCAGAATTTAGTAACTGTGTCCTACAGTCATTGTCAACCAGAAACAGTTCCTGAATTCTGTCCATTTGAAACTAAAGGTTCAAAAACATAAGTAGAACATAAACATCATATTAAACTATACCAATAAATTATTAACACCTTCTTTCCAGTTTCACTCGGCTACAAGTAGACTATCTGTAAAAATGGGA... | AAATATTTTAAATTAAACAATTTATAACAATTTTGGGAAATACTAATACCAGAGCTAACTCACATTTTTCAAAAAGTACATCAGTTCTTTTATTGGTAACAGTTCCCCCAAAAATATTAATTATACTAATACTCAGAATTTAGTAACTGTGTCCTACAGTCATTGTCAACCAGAAACAGTTCCTGAATTCTGTCCATTTGAAACTAAAGGTTCAAAAACATAAGTAGAACATAAACATCATATTAAACTATACCAATAAATTATTAACACCTTCTTTCCAGTTTCACTCGGCTACAAGTAGACTATCTGTAAAAATGGGA... | benign | 127,356 |
The genetic variant at chromosome 7, position 128335924, affecting gene RBM28 (RNA binding motif protein 28): benign or pathogenic? Disease name(s) if pathogenic? | benign | AATGTGGTAAGGTTATGGGAAAAAGACATTTCCATATACTACTATGACAGTGTAAACTTTCTGGAAATACTGTATAGGACATAGGAAACTTTGAGGAAAAAACATACACATACAATCACACACAAATTATAAAATACACTACATTTTGAATGTGTATATGTGTGTGTATATGTGTGCATTTTGCTTATAAATGTATTAAAATATCTATAGATACACAAGAAACAAATAACCTTGGTTGTCTCTGGGGAAGTTCCCTAAGAAGCTGAGGATCTGGGTATAAGGGAGACTCACTGTTTGTTTTCAAGAACAGACATATAAGC... | AATGTGGTAAGGTTATGGGAAAAAGACATTTCCATATACTACTATGACAGTGTAAACTTTCTGGAAATACTGTATAGGACATAGGAAACTTTGAGGAAAAAACATACACATACAATCACACACAAATTATAAAATACACTACATTTTGAATGTGTATATGTGTGTGTATATGTGTGCATTTTGCTTATAAATGTATTAAAATATCTATAGATACACAAGAAACAAATAACCTTGGTTGTCTCTGGGGAAGTTCCCTAAGAAGCTGAGGATCTGGGTATAAGGGAGACTCACTGTTTGTTTTCAAGAACAGACATATAAGC... | benign | 127,431 |
Determine if the mutation at chromosome 7, position 128394976 in gene IMPDH1 (inosine monophosphate dehydrogenase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TCAGTTATGGAGGGAGGCTGTGCCCAAAAGTGGACACTGGGGTGCATCCCCTCCACCACCTCGGCCTCCACCGCTGTCCTCAGTACAGCCGCTTTTCGTAACTGTGGGGACAAGGCAAGAGGGGGAACAAGAGTGGGTGTGTGGACCCTGCTCCTTCCCAAAACCCTTTCCCCAGGGCCCCCAGATGTAGGAGAGAACAGAGAGCTGAGAAGCCCTGAGATCTCAGCCGTACGGCGCAGGAGGAGGGCCTGGAGCAGGCCCTAGGCCTCTGTCCTCCCCCAGGCCAGCATTCCCTGAAGAACCATGCTGGGTGCAGAGAT... | TCAGTTATGGAGGGAGGCTGTGCCCAAAAGTGGACACTGGGGTGCATCCCCTCCACCACCTCGGCCTCCACCGCTGTCCTCAGTACAGCCGCTTTTCGTAACTGTGGGGACAAGGCAAGAGGGGGAACAAGAGTGGGTGTGTGGACCCTGCTCCTTCCCAAAACCCTTTCCCCAGGGCCCCCAGATGTAGGAGAGAACAGAGAGCTGAGAAGCCCTGAGATCTCAGCCGTACGGCGCAGGAGGAGGGCCTGGAGCAGGCCCTAGGCCTCTGTCCTCCCCCAGGCCAGCATTCCCTGAAGAACCATGCTGGGTGCAGAGAT... | benign | 127,442 |
Benign or pathogenic: chromosome 7, position 128398407, gene IMPDH1 (inosine monophosphate dehydrogenase 1) variant? Disease(s) if pathogenic? | benign | CCCAAGCCCCAGGCAGAGCCCCCTTGACCGCACTCTGAGAAGCAGGCTGCAGCTCTTGCACCCTGCTTACACCTGCCTTCCCCTAAGTCAGTGGGCCCGATGGGGTGGGGCCCATGCCTGGGTCACCCCGGAGCCTACCATGGCAGAACAGGGCCTGGCAGAGAGAGTACTTGATATACATCTGGGGAACAAAGGCGAGGCCCCGGGGCCAGCGGGCACTCGCTCACCTCCTGACACCCACCTTCCTGGGTGATGCAGATGGAGCCGCAGCCCATGCCCACGCGCAGCCCGTCCACACCAGCATCAATCAGGTTCTTGGC... | CCCAAGCCCCAGGCAGAGCCCCCTTGACCGCACTCTGAGAAGCAGGCTGCAGCTCTTGCACCCTGCTTACACCTGCCTTCCCCTAAGTCAGTGGGCCCGATGGGGTGGGGCCCATGCCTGGGTCACCCCGGAGCCTACCATGGCAGAACAGGGCCTGGCAGAGAGAGTACTTGATATACATCTGGGGAACAAAGGCGAGGCCCCGGGGCCAGCGGGCACTCGCTCACCTCCTGACACCCACCTTCCTGGGTGATGCAGATGGAGCCGCAGCCCATGCCCACGCGCAGCCCGTCCACACCAGCATCAATCAGGTTCTTGGC... | benign | 127,448 |
Is chromosome 7, position 128830973, gene FLNC (filamin C) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GAAATACATTCTCTAGGCCCAGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGTGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTTTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTATTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGGGAGACAGAGGTTGCGGTGAGCAGAGATCATGCCATTGCACTCCAGCCTGGGTAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAG... | GAAATACATTCTCTAGGCCCAGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGTGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTTTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTATTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGGGAGACAGAGGTTGCGGTGAGCAGAGATCATGCCATTGCACTCCAGCCTGGGTAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAG... | pathogenic | 127,506 |
Is chromosome 7, position 128835501, gene FLNC (filamin C) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GGGAGGAGGGAGAGGGAGGTCATTGCTTCCAGAGTGGGACTTGGGGCCCCACTGCCCTTCTCCTGCCCCAAGCCTGGACCACTTGCTGTCTGGCCCAGGGCCAGTTGCTGGGGAGAAACTTCCCTCTCCAGCAAATATGAATGACCACCCTCCCCATATACACACCGCCCCCCCCAACCCCTGCAGCCTCAAGGCTTCCTGCCCAGGGGTCTGGCTCCAGTTTGCAAGAAGTACTTCTGGGCGTGTGAGCTTTGGAGGCTGTCGGGGTTGTGAGAGGCTGGGGGCACTGGGGCATCCAGACTGTGTGAAAGTGTTGGAGC... | GGGAGGAGGGAGAGGGAGGTCATTGCTTCCAGAGTGGGACTTGGGGCCCCACTGCCCTTCTCCTGCCCCAAGCCTGGACCACTTGCTGTCTGGCCCAGGGCCAGTTGCTGGGGAGAAACTTCCCTCTCCAGCAAATATGAATGACCACCCTCCCCATATACACACCGCCCCCCCCAACCCCTGCAGCCTCAAGGCTTCCTGCCCAGGGGTCTGGCTCCAGTTTGCAAGAAGTACTTCTGGGCGTGTGAGCTTTGGAGGCTGTCGGGGTTGTGAGAGGCTGGGGGCACTGGGGCATCCAGACTGTGTGAAAGTGTTGGAGC... | pathogenic | 127,524 |
Evaluate this variant at chromosome 7, position 128837474, gene FLNC (filamin C): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | AGATGATGAGGATGCCCGCAAACAGACGCCCAAGCAGCGGCTGCTTGGCTGGATCCAGAACAAGGTGCCCCAGCTGCCCATCACCAACTTCAACCGTGACTGGCAGGACGGCAAAGCTCTGGGCGCCCTGGTGGACAACTGCGCCCCCGGTGAGTGGGCCAGTGAGCACAGCATGGAGCCCTTAGCTCCCAAAGACAGAGGGGACAAGCTGGGGCTGCCAAGGCGTGTGGTTGTCAGAATGCACACCCTGGGGCCTGGGGGCCAGGATCCCCTGCAGGGTTTGTCCTCCTCCAGCTGTGGCTCTCCGCTGGCTGGTGGCA... | AGATGATGAGGATGCCCGCAAACAGACGCCCAAGCAGCGGCTGCTTGGCTGGATCCAGAACAAGGTGCCCCAGCTGCCCATCACCAACTTCAACCGTGACTGGCAGGACGGCAAAGCTCTGGGCGCCCTGGTGGACAACTGCGCCCCCGGTGAGTGGGCCAGTGAGCACAGCATGGAGCCCTTAGCTCCCAAAGACAGAGGGGACAAGCTGGGGCTGCCAAGGCGTGTGGTTGTCAGAATGCACACCCTGGGGCCTGGGGGCCAGGATCCCCTGCAGGGTTTGTCCTCCTCCAGCTGTGGCTCTCCGCTGGCTGGTGGCA... | pathogenic | 127,549 |
A genetic alteration at chromosome 7, position 128837677, in gene FLNC (filamin C)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | ACAAGCTGGGGCTGCCAAGGCGTGTGGTTGTCAGAATGCACACCCTGGGGCCTGGGGGCCAGGATCCCCTGCAGGGTTTGTCCTCCTCCAGCTGTGGCTCTCCGCTGGCTGGTGGCAGGCCCTACCTGATGAGTGTGCCAGATTCCGCAGAGGCAGGAAGAGGTTTAAAACCCCTCATTTTACAGACAAGGACACTATGGCCCAGAGAGGGCTGGTGACTTATCCAAGATCACACAGCTTATCTGTGGCAGAACCACCTAGAGCCCAGGGCCTGGACTCCCTGCCCCATGAATTTTTTACTGTGCCACGAGGCACTATTC... | ACAAGCTGGGGCTGCCAAGGCGTGTGGTTGTCAGAATGCACACCCTGGGGCCTGGGGGCCAGGATCCCCTGCAGGGTTTGTCCTCCTCCAGCTGTGGCTCTCCGCTGGCTGGTGGCAGGCCCTACCTGATGAGTGTGCCAGATTCCGCAGAGGCAGGAAGAGGTTTAAAACCCCTCATTTTACAGACAAGGACACTATGGCCCAGAGAGGGCTGGTGACTTATCCAAGATCACACAGCTTATCTGTGGCAGAACCACCTAGAGCCCAGGGCCTGGACTCCCTGCCCCATGAATTTTTTACTGTGCCACGAGGCACTATTC... | pathogenic | 127,561 |
Evaluate if the mutation on chromosome 7 at position 128838001 in FLNC (filamin C) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | CGAGCTGAGAGAGAGGCAGTGTGGTGACCAGGACTTGTAGCAAGACCAGGAGTTAGATCCAGAGAAGGCTCTTCTCTGGGAGACCCTGGGATGACTTTGAGAAGGGGTTGAGGCTCAGGATGATGTGGGATGAGGCCAGTGGGGCACTGCCTGGTGGCAGGTGAGCCAGCCTTGCCCCTTCTCCGTGTAGGTCCTGGCCTGGTCAAGTGGGGACAGCTCAGGGGCCATGAAAAAAGCTGAGGCATCACTGGCTAGAGCGTACCCCATGGACAGCTCCCTTTCTGCCCCTCATCTCCTGAAAAGATAGGTTTTCTCCAGGA... | CGAGCTGAGAGAGAGGCAGTGTGGTGACCAGGACTTGTAGCAAGACCAGGAGTTAGATCCAGAGAAGGCTCTTCTCTGGGAGACCCTGGGATGACTTTGAGAAGGGGTTGAGGCTCAGGATGATGTGGGATGAGGCCAGTGGGGCACTGCCTGGTGGCAGGTGAGCCAGCCTTGCCCCTTCTCCGTGTAGGTCCTGGCCTGGTCAAGTGGGGACAGCTCAGGGGCCATGAAAAAAGCTGAGGCATCACTGGCTAGAGCGTACCCCATGGACAGCTCCCTTTCTGCCCCTCATCTCCTGAAAAGATAGGTTTTCTCCAGGA... | pathogenic | 127,572 |
Is the genetic variant on chromosome 7, position 128841320, gene FLNC (filamin C), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | CCAGGTTCCATGCCGTTGTCTGTGTTCTGTGGCAGGTCTAGTGTCTTTGCCACTTGCCTGGTGATTTCTATGATGAAATCTGGGCTCTGAGCCATTGCCTGTGTTCCGTGGTACCCCTTGGGCAGTGCCATCGCCTATGGTCATGGTAGTCCTGGAATATGTGTCGTGTCCTGTTTCGTAGCACCTGTGGGTCCCATGCCATTTTTCTGGATTCTGTGGCAGGCTGAGATTCCCATTCCTTTGCCTGTGTTCCATAGCAAGGCCTGGGCTCATTGCCACTGGCCACGGTCTGTGGTAGGCTGATGTCCACACGTTGCCTG... | CCAGGTTCCATGCCGTTGTCTGTGTTCTGTGGCAGGTCTAGTGTCTTTGCCACTTGCCTGGTGATTTCTATGATGAAATCTGGGCTCTGAGCCATTGCCTGTGTTCCGTGGTACCCCTTGGGCAGTGCCATCGCCTATGGTCATGGTAGTCCTGGAATATGTGTCGTGTCCTGTTTCGTAGCACCTGTGGGTCCCATGCCATTTTTCTGGATTCTGTGGCAGGCTGAGATTCCCATTCCTTTGCCTGTGTTCCATAGCAAGGCCTGGGCTCATTGCCACTGGCCACGGTCTGTGGTAGGCTGATGTCCACACGTTGCCTG... | pathogenic | 127,668 |
A mutation at chromosome position 128841529 on chromosome 7 in gene FLNC (filamin C): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GATTCTGTGGCAGGCTGAGATTCCCATTCCTTTGCCTGTGTTCCATAGCAAGGCCTGGGCTCATTGCCACTGGCCACGGTCTGTGGTAGGCTGATGTCCACACGTTGCCTGTGTTGTATGGCAGGCTTCGAGTTCTATGAAGTAGCCCTTGTTCTGTGGCATTGCTGGATGTTTTGTGGCATGACTTAGATCCTAAGGTTGCTTTGGTGCCCTGAGAGGCCCAGAGGGCTCTAGATGGATGGCCTTGGGCTGGGTAAAGGGGCCTTCCCTGTCTCTCTGAGCCCACTCTCAGCCCAGGCTCTGCCATGCATTTCCCCAGT... | GATTCTGTGGCAGGCTGAGATTCCCATTCCTTTGCCTGTGTTCCATAGCAAGGCCTGGGCTCATTGCCACTGGCCACGGTCTGTGGTAGGCTGATGTCCACACGTTGCCTGTGTTGTATGGCAGGCTTCGAGTTCTATGAAGTAGCCCTTGTTCTGTGGCATTGCTGGATGTTTTGTGGCATGACTTAGATCCTAAGGTTGCTTTGGTGCCCTGAGAGGCCCAGAGGGCTCTAGATGGATGGCCTTGGGCTGGGTAAAGGGGCCTTCCCTGTCTCTCTGAGCCCACTCTCAGCCCAGGCTCTGCCATGCATTTCCCCAGT... | pathogenic | 127,676 |
Evaluate this variant at chromosome 7, position 128842339, gene FLNC (filamin C): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | AATCTCAGGCTCATTGTCTCCTCTCTGCCTCAGTTTCTTGGTCTACAAGCCAGGAATGATTCTCTCCACCCTAAGTGCTATACGGGGTGTTATGCACAGGGATGACAAGTGTTCCCTGCCCTGAGTTGCAGCACTGCTCACTACAGCACTGCCCTCGGGCTGGGTCGGGGTCCCAATGGCTCCTTGAGGGGATTGAGGAGCTGGGACTTCAAGGATATTGATCTGCCTTCTTCCCCACCCTGCCCCCATCTCCTCAGAGGGCACAGAGGAGCCAGTGAAGGTGCGGGAGGCTGGGGATGGTGTGTTCGAGTGCGAGTACT... | AATCTCAGGCTCATTGTCTCCTCTCTGCCTCAGTTTCTTGGTCTACAAGCCAGGAATGATTCTCTCCACCCTAAGTGCTATACGGGGTGTTATGCACAGGGATGACAAGTGTTCCCTGCCCTGAGTTGCAGCACTGCTCACTACAGCACTGCCCTCGGGCTGGGTCGGGGTCCCAATGGCTCCTTGAGGGGATTGAGGAGCTGGGACTTCAAGGATATTGATCTGCCTTCTTCCCCACCCTGCCCCCATCTCCTCAGAGGGCACAGAGGAGCCAGTGAAGGTGCGGGAGGCTGGGGATGGTGTGTTCGAGTGCGAGTACT... | pathogenic | 127,698 |
Variant at chromosome 7, position 128842781, gene FLNC (filamin C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GGCACTGGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTTTGGGCTGCGAGGGACTTTGGGGGGCACTTCCTGGCATGGACACCAGCTCCCTCTCTGCCCAGCCCCTTTGAGGTACAGGTGAGCCCAGAGGCAGGAGTGCAAAAGGTCCGGGCCTGGGGTCCTGGTTTGGAGACTGGCCAGGTGGGCAAGTCAGCCGATTTTGTGGTGGAAGCCATTGGCACCGAGGTGGGGACACTGGGTAAGTGGCTGGGGGGCAGGAGGAGGGAGTGCTGCGGGGGAGGGCAGCAGGGGACACTGTGGGTAATGGGTGCAGTGCGCAT... | GGCACTGGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTTTGGGCTGCGAGGGACTTTGGGGGGCACTTCCTGGCATGGACACCAGCTCCCTCTCTGCCCAGCCCCTTTGAGGTACAGGTGAGCCCAGAGGCAGGAGTGCAAAAGGTCCGGGCCTGGGGTCCTGGTTTGGAGACTGGCCAGGTGGGCAAGTCAGCCGATTTTGTGGTGGAAGCCATTGGCACCGAGGTGGGGACACTGGGTAAGTGGCTGGGGGGCAGGAGGAGGGAGTGCTGCGGGGGAGGGCAGCAGGGGACACTGTGGGTAATGGGTGCAGTGCGCAT... | pathogenic | 127,723 |
Variant in gene FLNC (filamin C), located at chromosome 7 position 128843854: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GAAAGATTGTTTCATTGAATAAGACACTGGTTTCCCAAGTCAGTTTCTCAGACTGGTGTCCATTGACCCCTAGAGGTTAATGAACATATTCTTGAGGATCTAAGAGGGTGATTCTTCTTTGAAAGGCTCATGATTCAGTTTTAGGAACATAAATTTAGCCCACACTCTTCCTGTCCAACACATTTCAGAGTTGAGGAAACCTAGGCTGGGAGAGCAAGCCATACAGATGGCCTTGAGTCAGGCTCCCAGGGTGGGCTCTGGCCGCCAGAGCACGTGGCCCTGGGCTCTGGTGGCCTCAGTGGCTGGTGTGGGGGCGGGAG... | GAAAGATTGTTTCATTGAATAAGACACTGGTTTCCCAAGTCAGTTTCTCAGACTGGTGTCCATTGACCCCTAGAGGTTAATGAACATATTCTTGAGGATCTAAGAGGGTGATTCTTCTTTGAAAGGCTCATGATTCAGTTTTAGGAACATAAATTTAGCCCACACTCTTCCTGTCCAACACATTTCAGAGTTGAGGAAACCTAGGCTGGGAGAGCAAGCCATACAGATGGCCTTGAGTCAGGCTCCCAGGGTGGGCTCTGGCCGCCAGAGCACGTGGCCCTGGGCTCTGGTGGCCTCAGTGGCTGGTGTGGGGGCGGGAG... | pathogenic | 127,769 |
Is chromosome 7, position 128844161, gene FLNC (filamin C) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GTGGGGGCGGGAGTGCCAGTGTTGGGGGTGGGAAAGGAGGCGCTGGGTTCACCTGCGGCCAGCAGAGGGCGCTCTGCAGAGGCCACAGCTATGAACTTTGCTTGGGTGATGCCCACAGGACGCCGACGGCTGTCCCATCGACATCAAGGTGATCCCCAACGGCGACGGCACCTTCCGCTGCTCCTACGTGCCCACCAAGCCCATTAAGCACACCATCATCATCTCCTGGGGAGGCGTAAACGTGCCCAAGAGCCCCTTCCGGGTGCGTCCTCCCGGCCTGCCCCGTGCCCACCACCAGGGGTCCCTGAGGGAGGGCGGAA... | GTGGGGGCGGGAGTGCCAGTGTTGGGGGTGGGAAAGGAGGCGCTGGGTTCACCTGCGGCCAGCAGAGGGCGCTCTGCAGAGGCCACAGCTATGAACTTTGCTTGGGTGATGCCCACAGGACGCCGACGGCTGTCCCATCGACATCAAGGTGATCCCCAACGGCGACGGCACCTTCCGCTGCTCCTACGTGCCCACCAAGCCCATTAAGCACACCATCATCATCTCCTGGGGAGGCGTAAACGTGCCCAAGAGCCCCTTCCGGGTGCGTCCTCCCGGCCTGCCCCGTGCCCACCACCAGGGGTCCCTGAGGGAGGGCGGAA... | pathogenic | 127,790 |
For chromosome 7, position 128844253, gene FLNC (filamin C): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GAACTTTGCTTGGGTGATGCCCACAGGACGCCGACGGCTGTCCCATCGACATCAAGGTGATCCCCAACGGCGACGGCACCTTCCGCTGCTCCTACGTGCCCACCAAGCCCATTAAGCACACCATCATCATCTCCTGGGGAGGCGTAAACGTGCCCAAGAGCCCCTTCCGGGTGCGTCCTCCCGGCCTGCCCCGTGCCCACCACCAGGGGTCCCTGAGGGAGGGCGGAACCCTCGCTGGAGTCCCTGTTGTCCCTGGGCTCAGGCTGGGACTGAGGCTTGGGCTGGTGCCACTGAGGCTGGGCCGGGTGCGCTGGGCAGGA... | GAACTTTGCTTGGGTGATGCCCACAGGACGCCGACGGCTGTCCCATCGACATCAAGGTGATCCCCAACGGCGACGGCACCTTCCGCTGCTCCTACGTGCCCACCAAGCCCATTAAGCACACCATCATCATCTCCTGGGGAGGCGTAAACGTGCCCAAGAGCCCCTTCCGGGTGCGTCCTCCCGGCCTGCCCCGTGCCCACCACCAGGGGTCCCTGAGGGAGGGCGGAACCCTCGCTGGAGTCCCTGTTGTCCCTGGGCTCAGGCTGGGACTGAGGCTTGGGCTGGTGCCACTGAGGCTGGGCCGGGTGCGCTGGGCAGGA... | pathogenic | 127,799 |
Gene FLNC (filamin C) variant at chromosome position 128845159 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | CTTTTGGAGGCTGCCCCTGTCCATGCTGGGTCCCCTGGGTGTGTCCTGAGCCAGCATCTAGCTGAGAGCAGGGGTGTGTTCCCCTCGAGAGCCCTGACTGAGCCTCCTCCACATCCAGGAGATCCCCGCCAGCCCCTTCCACATCAAGGTGGACCCATCCCACGATGCCAGCAAAGTCAAGGCCGAGGGCCCTGGGCTGAATCGCACAGGTGAGTGTCTGGGCAGGGGCTGGGACTGGCTCGAGGTTGGGGTTAGGTGGCTGCCAGGCCCTCACCACATCTCTGGGTGGGTCCTCAGGTGTGGAAGTCGGGAAGCCCACC... | CTTTTGGAGGCTGCCCCTGTCCATGCTGGGTCCCCTGGGTGTGTCCTGAGCCAGCATCTAGCTGAGAGCAGGGGTGTGTTCCCCTCGAGAGCCCTGACTGAGCCTCCTCCACATCCAGGAGATCCCCGCCAGCCCCTTCCACATCAAGGTGGACCCATCCCACGATGCCAGCAAAGTCAAGGCCGAGGGCCCTGGGCTGAATCGCACAGGTGAGTGTCTGGGCAGGGGCTGGGACTGGCTCGAGGTTGGGGTTAGGTGGCTGCCAGGCCCTCACCACATCTCTGGGTGGGTCCTCAGGTGTGGAAGTCGGGAAGCCCACC... | pathogenic | 127,841 |
Variant at chromosome 7, position 128846094, gene FLNC (filamin C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype'] | GAGGGGCTGGCGGTCAGGGCCAACTGGATGTGCGGATGACTTCGCCCTCTCGCCGGCCCATCCCCTGCAAGCTGGAGCCAGGCGGTGGAGCGGAAGCCCAGGCTGTGCGCTACATGCCCCCGGAGGAGGGGCCCTACAAGGTGGATATCACCTACGATGGTCACCCGGTGCCTGGCAGCCCGTTTGCTGTGGAGGGTGTCCTGCCCCCTGATCCCTCCAAGGTGAGGAGATAGGAGCTGGTTGGGGCTGGGAGTTGGGGACTTGTTGGGAAGATAGATGAGTCATAGGGGGCAGAGGCCAGAGGGACTTATGTGCCTGGA... | GAGGGGCTGGCGGTCAGGGCCAACTGGATGTGCGGATGACTTCGCCCTCTCGCCGGCCCATCCCCTGCAAGCTGGAGCCAGGCGGTGGAGCGGAAGCCCAGGCTGTGCGCTACATGCCCCCGGAGGAGGGGCCCTACAAGGTGGATATCACCTACGATGGTCACCCGGTGCCTGGCAGCCCGTTTGCTGTGGAGGGTGTCCTGCCCCCTGATCCCTCCAAGGTGAGGAGATAGGAGCTGGTTGGGGCTGGGAGTTGGGGACTTGTTGGGAAGATAGATGAGTCATAGGGGGCAGAGGCCAGAGGGACTTATGTGCCTGGA... | pathogenic | 127,862 |
The chromosome 7, position 128846129 genetic variant in gene FLNC (filamin C): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | ATGACTTCGCCCTCTCGCCGGCCCATCCCCTGCAAGCTGGAGCCAGGCGGTGGAGCGGAAGCCCAGGCTGTGCGCTACATGCCCCCGGAGGAGGGGCCCTACAAGGTGGATATCACCTACGATGGTCACCCGGTGCCTGGCAGCCCGTTTGCTGTGGAGGGTGTCCTGCCCCCTGATCCCTCCAAGGTGAGGAGATAGGAGCTGGTTGGGGCTGGGAGTTGGGGACTTGTTGGGAAGATAGATGAGTCATAGGGGGCAGAGGCCAGAGGGACTTATGTGCCTGGAGTGGGCACAGCCAAGGGTGTGGGGCTGAGGCCAGC... | ATGACTTCGCCCTCTCGCCGGCCCATCCCCTGCAAGCTGGAGCCAGGCGGTGGAGCGGAAGCCCAGGCTGTGCGCTACATGCCCCCGGAGGAGGGGCCCTACAAGGTGGATATCACCTACGATGGTCACCCGGTGCCTGGCAGCCCGTTTGCTGTGGAGGGTGTCCTGCCCCCTGATCCCTCCAAGGTGAGGAGATAGGAGCTGGTTGGGGCTGGGAGTTGGGGACTTGTTGGGAAGATAGATGAGTCATAGGGGGCAGAGGCCAGAGGGACTTATGTGCCTGGAGTGGGCACAGCCAAGGGTGTGGGGCTGAGGCCAGC... | pathogenic | 127,865 |
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