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 |
|---|---|---|---|---|---|
Does the genetic variant at chromosome 5, position 112819132, impacting gene APC (APC regulator of WNT signaling pathway), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGT... | GGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGT... | pathogenic | 96,574 |
Variant in APC (APC regulator of WNT signaling pathway), chromosome 5, position 112819139—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACT... | AACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACT... | pathogenic | 96,580 |
A genetic alteration at chromosome 5, position 112819152, in gene APC (APC regulator of WNT signaling pathway)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCA... | AGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCA... | pathogenic | 96,582 |
Is the genetic mutation found on chromosome 5 at position 112819170, within the gene APC (APC regulator of WNT signaling pathway), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCC... | TGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCC... | pathogenic | 96,586 |
Variant in APC (APC regulator of WNT signaling pathway), chromosome 5, position 112819184—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTA... | CTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTA... | pathogenic | 96,590 |
Mutation found at chromosome 5 position 112819188, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | GATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTT... | GATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTT... | pathogenic | 96,592 |
Classify the chromosome 5 variant at position 112819209 affecting gene APC (APC regulator of WNT signaling pathway) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAAT... | CACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAAT... | pathogenic | 96,598 |
Is the variant located on chromosome 5 at position 112819210, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_adenomatous_polyposis_1'] | ACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATT... | ACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATT... | pathogenic | 96,599 |
The mutation in gene APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112819221—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | CAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTAT... | CAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTAT... | pathogenic | 96,605 |
Gene mutation in APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112819223—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCC... | GAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCC... | pathogenic | 96,606 |
The mutation impacting APC (APC regulator of WNT signaling pathway) on chromosome 5 at position 112819228: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1'] | TTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATT... | TTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATT... | pathogenic | 96,608 |
The mutation impacting APC (APC regulator of WNT signaling pathway) on chromosome 5 at position 112819239: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome'] | CTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGA... | CTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGA... | pathogenic | 96,612 |
Clinically, how would you classify the variant at chromosome 5, position 112819249, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAA... | ATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAA... | pathogenic | 96,616 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 112819257, gene APC (APC regulator of WNT signaling pathway). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAA... | CTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAA... | pathogenic | 96,618 |
Benign or pathogenic: chromosome 5, position 112819257, gene APC (APC regulator of WNT signaling pathway) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAA... | CTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAA... | pathogenic | 96,619 |
Determine if the mutation at chromosome 5, position 112819270 in gene APC (APC regulator of WNT signaling pathway) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATG... | ACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATG... | pathogenic | 96,622 |
Evaluate this variant at chromosome 5, position 112819271, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGG... | CGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGG... | pathogenic | 96,623 |
Located at chromosome 5 position 112819273, the variant affecting gene APC (APC regulator of WNT signaling pathway)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGGAA... | ATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGGAA... | pathogenic | 96,625 |
Does the genetic variant at chromosome 5, position 112819276, impacting gene APC (APC regulator of WNT signaling pathway), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome'] | TATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGGAAATT... | TATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGGAAATT... | pathogenic | 96,627 |
Variant at chromosome position 112819284, chromosome 5, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGGAAATTTAATTCCA... | ATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGGAAATTTAATTCCA... | pathogenic | 96,630 |
Does the genetic variant at chromosome 5, position 112819288, impacting gene APC (APC regulator of WNT signaling pathway), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGGAAATTTAATTCCAGATC... | ACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGGAAATTTAATTCCAGATC... | pathogenic | 96,631 |
Considering the genetic mutation at chromosome 5, position 112819334, impacting APC (APC regulator of WNT signaling pathway): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGGAAATTTAATTCCAGATCTGTCTAACCTCAACATGTAGTTTTTACTATAAAGAAAATCTTGAAT... | TCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGGAAATTTAATTCCAGATCTGTCTAACCTCAACATGTAGTTTTTACTATAAAGAAAATCTTGAAT... | pathogenic | 96,645 |
Determine whether the variant at chromosome 5, position 112819342, in gene APC (APC regulator of WNT signaling pathway) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | GTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGGAAATTTAATTCCAGATCTGTCTAACCTCAACATGTAGTTTTTACTATAAAGAAAATCTTGAATATTCAAGA... | GTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGGAAATTTAATTCCAGATCTGTCTAACCTCAACATGTAGTTTTTACTATAAAGAAAATCTTGAATATTCAAGA... | pathogenic | 96,646 |
The genetic variant at chromosome 5, position 112819345, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | AATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGGAAATTTAATTCCAGATCTGTCTAACCTCAACATGTAGTTTTTACTATAAAGAAAATCTTGAATATTCAAGAGTA... | AATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCCTGTTTATACTTCTTGGGACCTCATATGCCATTCACTGTGCCAGGAGTTGTATGTACCTTATCTCTGGTCCTCTCCAAAATTCTATGAAGTATCCATATTTCTCTAAATGAGAAAACTGAAGCAAAAAAAATTTTAGGCATGGAAATTTAATTCCAGATCTGTCTAACCTCAACATGTAGTTTTTACTATAAAGAAAATCTTGAATATTCAAGAGTA... | pathogenic | 96,648 |
Assess the variant on chromosome 5, position 112821881, impacting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | ATCTCCATTTTACAGATGAAAAAACTGAGGCTCAGAAGAGCTAAAGGACTTAACCATGGCCTCACACCTAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGG... | ATCTCCATTTTACAGATGAAAAAACTGAGGCTCAGAAGAGCTAAAGGACTTAACCATGGCCTCACACCTAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGG... | benign | 96,663 |
A mutation at chromosome position 112821882 on chromosome 5 in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TCTCCATTTTACAGATGAAAAAACTGAGGCTCAGAAGAGCTAAAGGACTTAACCATGGCCTCACACCTAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGT... | TCTCCATTTTACAGATGAAAAAACTGAGGCTCAGAAGAGCTAAAGGACTTAACCATGGCCTCACACCTAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGT... | benign | 96,664 |
Gene mutation in APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112821929—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Carcinoma_of_colon', 'Desmoid_disease,_hereditary', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CTTAACCATGGCCTCACACCTAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACAC... | CTTAACCATGGCCTCACACCTAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACAC... | pathogenic | 96,672 |
Chromosome 5, position 112821929, gene APC (APC regulator of WNT signaling pathway): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CTTAACCATGGCCTCACACCTAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACAC... | CTTAACCATGGCCTCACACCTAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACAC... | pathogenic | 96,673 |
Variant at chromosome 5, position 112821937, gene APC (APC regulator of WNT signaling pathway): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGGCCTCACACCTAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACAC... | TGGCCTCACACCTAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACAC... | pathogenic | 96,676 |
Determine if the mutation at chromosome 5, position 112821940 in gene APC (APC regulator of WNT signaling pathway) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CCTCACACCTAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACA... | CCTCACACCTAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACA... | pathogenic | 96,677 |
Variant on chromosome 5, at position 112821949, affecting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGC... | TAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGC... | pathogenic | 96,681 |
Determine whether the variant at chromosome 5, position 112821949, in gene APC (APC regulator of WNT signaling pathway) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGC... | TAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGC... | pathogenic | 96,682 |
Located at chromosome 5 position 112821949, the variant affecting gene APC (APC regulator of WNT signaling pathway)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGC... | TAGTAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGC... | pathogenic | 96,683 |
A genetic variant at chromosome 5, position 112821952, affecting gene APC (APC regulator of WNT signaling pathway)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGCACT... | TAAGTGGTAGACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGCACT... | pathogenic | 96,684 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome position 112821961 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Colorectal_cancer', 'Desmoid_disease,_hereditary', 'Familial_adenomatous_polyposis_1', 'Gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach', 'Gastric_cancer', 'Hepatocellular_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | GACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGCACTACAAGTAGA... | GACCCAGGAACAGAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGCACTACAAGTAGA... | pathogenic | 96,690 |
For chromosome 5, position 112821973, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | GAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGCACTACAAGTAGATGATTCTACTGT... | GAGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGCACTACAAGTAGATGATTCTACTGT... | pathogenic | 96,693 |
Evaluate the clinical significance of the mutation at chromosome 5, position 112821974 in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_adenomatous_polyposis_1'] | AGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGCACTACAAGTAGATGATTCTACTGTA... | AGCCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGCACTACAAGTAGATGATTCTACTGTA... | pathogenic | 96,694 |
Regarding the variant found on chromosome 5 at position 112821976 in gene APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGCACTACAAGTAGATGATTCTACTGTATC... | CCCAGATCTCCTGACTCTCAGCTCGGTGCTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGCACTACAAGTAGATGATTCTACTGTATC... | pathogenic | 96,696 |
Regarding the variant found on chromosome 5 at position 112822004 in gene APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGCACTACAAGTAGATGATTCTACTGTATCAGCCTATTGATGTGAAGAGGAGATGATA... | CTCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGCACTACAAGTAGATGATTCTACTGTATCAGCCTATTGATGTGAAGAGGAGATGATA... | benign | 96,700 |
The genetic variant at chromosome 5, position 112822005, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease name(s) if pathogenic? | benign | TCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGCACTACAAGTAGATGATTCTACTGTATCAGCCTATTGATGTGAAGAGGAGATGATAC... | TCTTCCTACTGTACCATCCAGCTGTAGACAGTGGGCCTCAGTTGCTGGGAGTGATAATCCACCCAGCTCTTCACTCAGGAAGGGACCCTTAGACCTCAGCCCCACTCCCGCAGGAGCAGCATGGGAGTTAGGACCTATGGGGATATAACTTATTTCATTCCTGTAGCCAAGAACCAAAAGCAGTAAGTATGTAAGGTAAGACCTTCCTTTCACCTGATAAGAACTGACACACACACACACACACACACACACACACACACGTGCACTACAAGTAGATGATTCTACTGTATCAGCCTATTGATGTGAAGAGGAGATGATAC... | benign | 96,701 |
Considering the genetic mutation at chromosome 5, position 112827105, impacting APC (APC regulator of WNT signaling pathway): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Carcinoma_of_colon', 'Desmoid_disease,_hereditary', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CTTTCCCATCCCTGAATCTCTTATCTTTTCCCAGTTTCCTTTTCTCAGAAATTCCAATCCAGTTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTT... | CTTTCCCATCCCTGAATCTCTTATCTTTTCCCAGTTTCCTTTTCTCAGAAATTCCAATCCAGTTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTT... | pathogenic | 96,716 |
For chromosome 5, position 112827105, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CTTTCCCATCCCTGAATCTCTTATCTTTTCCCAGTTTCCTTTTCTCAGAAATTCCAATCCAGTTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTT... | CTTTCCCATCCCTGAATCTCTTATCTTTTCCCAGTTTCCTTTTCTCAGAAATTCCAATCCAGTTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTT... | pathogenic | 96,717 |
Determine whether the variant at chromosome 5, position 112827106, in gene APC (APC regulator of WNT signaling pathway) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTCCCATCCCTGAATCTCTTATCTTTTCCCAGTTTCCTTTTCTCAGAAATTCCAATCCAGTTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTC... | TTTCCCATCCCTGAATCTCTTATCTTTTCCCAGTTTCCTTTTCTCAGAAATTCCAATCCAGTTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTC... | pathogenic | 96,718 |
Variant at chromosome 5, position 112827128, gene APC (APC regulator of WNT signaling pathway): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TCTTTTCCCAGTTTCCTTTTCTCAGAAATTCCAATCCAGTTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGC... | TCTTTTCCCAGTTTCCTTTTCTCAGAAATTCCAATCCAGTTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGC... | pathogenic | 96,731 |
Is the genetic mutation found on chromosome 5 at position 112827130, within the gene APC (APC regulator of WNT signaling pathway), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTCCCAGTTTCCTTTTCTCAGAAATTCCAATCCAGTTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCAC... | TTTTCCCAGTTTCCTTTTCTCAGAAATTCCAATCCAGTTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCAC... | pathogenic | 96,733 |
Assess the variant on chromosome 5, position 112827145, impacting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TTTCTCAGAAATTCCAATCCAGTTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTG... | TTTCTCAGAAATTCCAATCCAGTTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTG... | pathogenic | 96,739 |
Does the genetic variant at chromosome 5, position 112827167, impacting gene APC (APC regulator of WNT signaling pathway), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTA... | TTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTA... | pathogenic | 96,744 |
Variant at chromosome 5, position 112827170, gene APC (APC regulator of WNT signaling pathway): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAG... | CTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAG... | pathogenic | 96,745 |
A mutation at chromosome position 112827182 on chromosome 5 in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTG... | AATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTG... | pathogenic | 96,746 |
Variant on chromosome 5, at position 112827184, affecting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGC... | TCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGC... | pathogenic | 96,748 |
Mutation found at chromosome 5 position 112827184, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGC... | TCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGC... | pathogenic | 96,749 |
Is chromosome 5, position 112827198, gene APC (APC regulator of WNT signaling pathway) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGT... | CACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGT... | pathogenic | 96,757 |
Chromosome 5, position 112827210, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome'] | CTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAG... | CTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAG... | pathogenic | 96,763 |
Benign or pathogenic: chromosome 5, position 112827220, gene APC (APC regulator of WNT signaling pathway) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | GCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGC... | GCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGC... | pathogenic | 96,766 |
Does the genetic variant at chromosome 5, position 112827224, impacting gene APC (APC regulator of WNT signaling pathway), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTT... | ATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTT... | pathogenic | 96,767 |
Evaluate the clinical significance of the mutation at chromosome 5, position 112827225 in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTTT... | TAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTTT... | pathogenic | 96,768 |
Considering the variant on chromosome 5, location 112827225, involving gene APC (APC regulator of WNT signaling pathway), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTTT... | TAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTTT... | pathogenic | 96,769 |
Is the genetic mutation found on chromosome 5 at position 112827236, within the gene APC (APC regulator of WNT signaling pathway), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTTTCACATGCTGTT... | TGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTTTCACATGCTGTT... | pathogenic | 96,773 |
Classify the chromosome 5 variant at position 112827256 affecting gene APC (APC regulator of WNT signaling pathway) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTTTCACATGCTGTTTCCTTTGCTTAGAACGCATC... | AAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTTTCACATGCTGTTTCCTTTGCTTAGAACGCATC... | benign | 96,782 |
Regarding the variant at chromosome 5 and position 112827905, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATCTGTACGCTCTTCATAAAGACAGTGACTGATTTTTGTTCACTGTCTCTGTATTTTGCCACTGTTGCAGGTGAATGGAGGAAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTT... | ATCTGTACGCTCTTCATAAAGACAGTGACTGATTTTTGTTCACTGTCTCTGTATTTTGCCACTGTTGCAGGTGAATGGAGGAAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTT... | benign | 96,786 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome 5, position 112827912—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CGCTCTTCATAAAGACAGTGACTGATTTTTGTTCACTGTCTCTGTATTTTGCCACTGTTGCAGGTGAATGGAGGAAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATG... | CGCTCTTCATAAAGACAGTGACTGATTTTTGTTCACTGTCTCTGTATTTTGCCACTGTTGCAGGTGAATGGAGGAAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATG... | benign | 96,790 |
Determine whether the variant at chromosome 5, position 112827943, in gene APC (APC regulator of WNT signaling pathway) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTCACTGTCTCTGTATTTTGCCACTGTTGCAGGTGAATGGAGGAAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGA... | TTCACTGTCTCTGTATTTTGCCACTGTTGCAGGTGAATGGAGGAAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGA... | pathogenic | 96,805 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 112827944, gene APC (APC regulator of WNT signaling pathway). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TCACTGTCTCTGTATTTTGCCACTGTTGCAGGTGAATGGAGGAAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAA... | TCACTGTCTCTGTATTTTGCCACTGTTGCAGGTGAATGGAGGAAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAA... | pathogenic | 96,806 |
Regarding the variant at chromosome 5 and position 112827949, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | GTCTCTGTATTTTGCCACTGTTGCAGGTGAATGGAGGAAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCC... | GTCTCTGTATTTTGCCACTGTTGCAGGTGAATGGAGGAAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCC... | pathogenic | 96,807 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 112827984, gene APC (APC regulator of WNT signaling pathway). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome'] | GGAAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCCTGTTTATATTCATCTTTTTCTTTCTGAGTCCCGTG... | GGAAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCCTGTTTATATTCATCTTTTTCTTTCTGAGTCCCGTG... | pathogenic | 96,819 |
Variant at chromosome 5, position 112827986, gene APC (APC regulator of WNT signaling pathway): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_adenomatous_polyposis_1'] | AAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCCTGTTTATATTCATCTTTTTCTTTCTGAGTCCCGTGAT... | AAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCCTGTTTATATTCATCTTTTTCTTTCTGAGTCCCGTGAT... | pathogenic | 96,820 |
Regarding the variant at chromosome 5 and position 112827990, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCCTGTTTATATTCATCTTTTTCTTTCTGAGTCCCGTGATGATT... | TTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCCTGTTTATATTCATCTTTTTCTTTCTGAGTCCCGTGATGATT... | pathogenic | 96,821 |
Determine if the mutation at chromosome 5, position 112827999 in gene APC (APC regulator of WNT signaling pathway) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Classic_or_attenuated_familial_adenomatous_polyposis', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCCTGTTTATATTCATCTTTTTCTTTCTGAGTCCCGTGATGATTAATATTTGA... | ATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCCTGTTTATATTCATCTTTTTCTTTCTGAGTCCCGTGATGATTAATATTTGA... | pathogenic | 96,825 |
Is chromosome 5, position 112827999, gene APC (APC regulator of WNT signaling pathway) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCCTGTTTATATTCATCTTTTTCTTTCTGAGTCCCGTGATGATTAATATTTGA... | ATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCCTGTTTATATTCATCTTTTTCTTTCTGAGTCCCGTGATGATTAATATTTGA... | pathogenic | 96,826 |
Variant in APC (APC regulator of WNT signaling pathway), chromosome 5, position 112828001—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCCTGTTTATATTCATCTTTTTCTTTCTGAGTCCCGTGATGATTAATATTTGATG... | ATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCCTGTTTATATTCATCTTTTTCTTTCTGAGTCCCGTGATGATTAATATTTGATG... | pathogenic | 96,827 |
Does the genetic variant at chromosome 5, position 112828861, impacting gene APC (APC regulator of WNT signaling pathway), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TTGGCAAGGTGCAGTGTATATGCAGTAAATAGAAAATAATTATTTCGCTCAGCAAGATAAGGGGCTGGGGGTGGAGAAACTGGCATAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATT... | TTGGCAAGGTGCAGTGTATATGCAGTAAATAGAAAATAATTATTTCGCTCAGCAAGATAAGGGGCTGGGGGTGGAGAAACTGGCATAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATT... | pathogenic | 96,853 |
Regarding the variant found on chromosome 5 at position 112828878 in gene APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATATGCAGTAAATAGAAAATAATTATTTCGCTCAGCAAGATAAGGGGCTGGGGGTGGAGAAACTGGCATAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTG... | ATATGCAGTAAATAGAAAATAATTATTTCGCTCAGCAAGATAAGGGGCTGGGGGTGGAGAAACTGGCATAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTG... | pathogenic | 96,857 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome position 112828879 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TATGCAGTAAATAGAAAATAATTATTTCGCTCAGCAAGATAAGGGGCTGGGGGTGGAGAAACTGGCATAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGA... | TATGCAGTAAATAGAAAATAATTATTTCGCTCAGCAAGATAAGGGGCTGGGGGTGGAGAAACTGGCATAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGA... | pathogenic | 96,858 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome 5, position 112828884—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AGTAAATAGAAAATAATTATTTCGCTCAGCAAGATAAGGGGCTGGGGGTGGAGAAACTGGCATAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGT... | AGTAAATAGAAAATAATTATTTCGCTCAGCAAGATAAGGGGCTGGGGGTGGAGAAACTGGCATAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGT... | pathogenic | 96,861 |
Variant on chromosome 5, at position 112828897, affecting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TAATTATTTCGCTCAGCAAGATAAGGGGCTGGGGGTGGAGAAACTGGCATAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGTATGGGCTTACTAA... | TAATTATTTCGCTCAGCAAGATAAGGGGCTGGGGGTGGAGAAACTGGCATAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGTATGGGCTTACTAA... | pathogenic | 96,869 |
Variant chromosome 5, position 112828933, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GGAGAAACTGGCATAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGTATGGGCTTACTAATGACCACTACAGTATTACACTAAGACGATATGCTGG... | GGAGAAACTGGCATAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGTATGGGCTTACTAATGACCACTACAGTATTACACTAAGACGATATGCTGG... | pathogenic | 96,878 |
Regarding the variant found on chromosome 5 at position 112828946 in gene APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGTATGGGCTTACTAATGACCACTACAGTATTACACTAAGACGATATGCTGGAATGGCTTTGACA... | TAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGTATGGGCTTACTAATGACCACTACAGTATTACACTAAGACGATATGCTGGAATGGCTTTGACA... | pathogenic | 96,882 |
A genetic variant on chromosome 5, position 112828966, affects the gene APC (APC regulator of WNT signaling pathway). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGTATGGGCTTACTAATGACCACTACAGTATTACACTAAGACGATATGCTGGAATGGCTTTGACAAACTTGACTTTTGGAGATGT... | TTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGTATGGGCTTACTAATGACCACTACAGTATTACACTAAGACGATATGCTGGAATGGCTTTGACAAACTTGACTTTTGGAGATGT... | pathogenic | 96,886 |
The mutation in gene APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112834938—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | AGTTTGCTATGTTTGCATCCTCTAGAGTGCCTCTCATTGCAATAGGCACAGAGTTGATTTCTAATTAATGTTTGTTTCCTGATGGATATATAGTAAGAAGACAGATTGACATCACCATCATGCCAAGTTTTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAG... | AGTTTGCTATGTTTGCATCCTCTAGAGTGCCTCTCATTGCAATAGGCACAGAGTTGATTTCTAATTAATGTTTGTTTCCTGATGGATATATAGTAAGAAGACAGATTGACATCACCATCATGCCAAGTTTTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAG... | pathogenic | 96,899 |
Considering the genetic mutation at chromosome 5, position 112834957, impacting APC (APC regulator of WNT signaling pathway): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1'] | CTCTAGAGTGCCTCTCATTGCAATAGGCACAGAGTTGATTTCTAATTAATGTTTGTTTCCTGATGGATATATAGTAAGAAGACAGATTGACATCACCATCATGCCAAGTTTTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGG... | CTCTAGAGTGCCTCTCATTGCAATAGGCACAGAGTTGATTTCTAATTAATGTTTGTTTCCTGATGGATATATAGTAAGAAGACAGATTGACATCACCATCATGCCAAGTTTTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGG... | pathogenic | 96,908 |
Does the variant on chromosome 5 at location 112834962 affecting gene APC (APC regulator of WNT signaling pathway) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1'] | GAGTGCCTCTCATTGCAATAGGCACAGAGTTGATTTCTAATTAATGTTTGTTTCCTGATGGATATATAGTAAGAAGACAGATTGACATCACCATCATGCCAAGTTTTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGA... | GAGTGCCTCTCATTGCAATAGGCACAGAGTTGATTTCTAATTAATGTTTGTTTCCTGATGGATATATAGTAAGAAGACAGATTGACATCACCATCATGCCAAGTTTTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGA... | pathogenic | 96,910 |
Evaluate this variant at chromosome 5, position 112834962, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GAGTGCCTCTCATTGCAATAGGCACAGAGTTGATTTCTAATTAATGTTTGTTTCCTGATGGATATATAGTAAGAAGACAGATTGACATCACCATCATGCCAAGTTTTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGA... | GAGTGCCTCTCATTGCAATAGGCACAGAGTTGATTTCTAATTAATGTTTGTTTCCTGATGGATATATAGTAAGAAGACAGATTGACATCACCATCATGCCAAGTTTTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGA... | pathogenic | 96,912 |
Gene mutation in APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112835035—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | AAGACAGATTGACATCACCATCATGCCAAGTTTTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCC... | AAGACAGATTGACATCACCATCATGCCAAGTTTTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCC... | pathogenic | 96,927 |
Regarding the variant found on chromosome 5 at position 112835058 in gene APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TGCCAAGTTTTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGC... | TGCCAAGTTTTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGC... | pathogenic | 96,934 |
Variant in gene APC (APC regulator of WNT signaling pathway), located at chromosome 5 position 112835064: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | GTTTTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCA... | GTTTTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCA... | pathogenic | 96,937 |
Variant at chromosome 5, position 112835067, gene APC (APC regulator of WNT signaling pathway): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCA... | TTGGGTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCA... | pathogenic | 96,939 |
Does the chromosome 5 mutation at position 112835071 within gene APC (APC regulator of WNT signaling pathway) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_adenomatous_polyposis_1'] | GTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACC... | GTTTGGGTTTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACC... | pathogenic | 96,941 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 112835079, gene APC (APC regulator of WNT signaling pathway): what disease(s) if pathogenic? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAAT... | TTTTTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAAT... | pathogenic | 96,945 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome position 112835082 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTT... | TTTTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTT... | pathogenic | 96,947 |
A mutation at chromosome position 112835084 on chromosome 5 in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTT... | TTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTT... | pathogenic | 96,948 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome 5, position 112835084—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTT... | TTTTTTGCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTT... | pathogenic | 96,949 |
Considering the genetic mutation at chromosome 5, position 112835090, impacting APC (APC regulator of WNT signaling pathway): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTT... | GCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTT... | pathogenic | 96,952 |
Mutation found at chromosome 5 position 112835090, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTT... | GCTTTTGCTTTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTT... | pathogenic | 96,953 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome 5, position 112835099—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome'] | TTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGA... | TTTGCTTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGA... | pathogenic | 96,956 |
The mutation in gene APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112835104—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGG... | TTTTGCTTTTTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGG... | pathogenic | 96,957 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome 5, position 112835113—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCAT... | TTTGAGACAGGGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCAT... | pathogenic | 96,960 |
Regarding the variant at chromosome 5 and position 112835123, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome'] | GGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGG... | GGTCTCACTCTGCCACACAGCCTTGACCTCCTGGGCTCAAGCTAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGG... | pathogenic | 96,963 |
The chromosome 5, position 112835165 genetic variant in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCC... | TAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCC... | pathogenic | 96,975 |
The chromosome 5, position 112835166 genetic variant in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCC... | AGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCC... | benign | 96,978 |
Classify the chromosome 5 variant at position 112835172 affecting gene APC (APC regulator of WNT signaling pathway) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCCCTCAAA... | CCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCCCTCAAA... | benign | 96,987 |
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