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 |
|---|---|---|---|---|---|
Is the chromosome 5, position 111113052 variant in WDR36 (WD repeat domain 36) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CATAAAGTCACAATTTACCAAGTGGGAAAAATCAGACTCTTTAATAAAGAACAACATTTGGCTTAATTTCCCCCAAAGTGTACTTGATTTAACAAAATTCAAGTGGAGGTGAGATTTTAGTTCAAGGGTTTTTTGTTTATTAAAACTGGTGCATTTATCTTGCTAGTGGCATTCTGGGACTCGCCTTGGATGACTTCTCCATTAGTGTTCTGGACATAGAAACTAGGAAGATTGTCAGAGAGTTTTCTGGACACCAAGGCCAAATAAATGACATGGTAAAACAAACTCTAACTAATAAAACTTGACTCATTTCTACTTTT... | CATAAAGTCACAATTTACCAAGTGGGAAAAATCAGACTCTTTAATAAAGAACAACATTTGGCTTAATTTCCCCCAAAGTGTACTTGATTTAACAAAATTCAAGTGGAGGTGAGATTTTAGTTCAAGGGTTTTTTGTTTATTAAAACTGGTGCATTTATCTTGCTAGTGGCATTCTGGGACTCGCCTTGGATGACTTCTCCATTAGTGTTCTGGACATAGAAACTAGGAAGATTGTCAGAGAGTTTTCTGGACACCAAGGCCAAATAAATGACATGGTAAAACAAACTCTAACTAATAAAACTTGACTCATTTCTACTTTT... | benign | 95,994 |
Is the genetic mutation found on chromosome 5 at position 111113052, within the gene WDR36 (WD repeat domain 36), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CATAAAGTCACAATTTACCAAGTGGGAAAAATCAGACTCTTTAATAAAGAACAACATTTGGCTTAATTTCCCCCAAAGTGTACTTGATTTAACAAAATTCAAGTGGAGGTGAGATTTTAGTTCAAGGGTTTTTTGTTTATTAAAACTGGTGCATTTATCTTGCTAGTGGCATTCTGGGACTCGCCTTGGATGACTTCTCCATTAGTGTTCTGGACATAGAAACTAGGAAGATTGTCAGAGAGTTTTCTGGACACCAAGGCCAAATAAATGACATGGTAAAACAAACTCTAACTAATAAAACTTGACTCATTTCTACTTTT... | CATAAAGTCACAATTTACCAAGTGGGAAAAATCAGACTCTTTAATAAAGAACAACATTTGGCTTAATTTCCCCCAAAGTGTACTTGATTTAACAAAATTCAAGTGGAGGTGAGATTTTAGTTCAAGGGTTTTTTGTTTATTAAAACTGGTGCATTTATCTTGCTAGTGGCATTCTGGGACTCGCCTTGGATGACTTCTCCATTAGTGTTCTGGACATAGAAACTAGGAAGATTGTCAGAGAGTTTTCTGGACACCAAGGCCAAATAAATGACATGGTAAAACAAACTCTAACTAATAAAACTTGACTCATTTCTACTTTT... | benign | 95,996 |
Is the genetic mutation found on chromosome 5 at position 111113054, within the gene WDR36 (WD repeat domain 36), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TAAAGTCACAATTTACCAAGTGGGAAAAATCAGACTCTTTAATAAAGAACAACATTTGGCTTAATTTCCCCCAAAGTGTACTTGATTTAACAAAATTCAAGTGGAGGTGAGATTTTAGTTCAAGGGTTTTTTGTTTATTAAAACTGGTGCATTTATCTTGCTAGTGGCATTCTGGGACTCGCCTTGGATGACTTCTCCATTAGTGTTCTGGACATAGAAACTAGGAAGATTGTCAGAGAGTTTTCTGGACACCAAGGCCAAATAAATGACATGGTAAAACAAACTCTAACTAATAAAACTTGACTCATTTCTACTTTTGT... | TAAAGTCACAATTTACCAAGTGGGAAAAATCAGACTCTTTAATAAAGAACAACATTTGGCTTAATTTCCCCCAAAGTGTACTTGATTTAACAAAATTCAAGTGGAGGTGAGATTTTAGTTCAAGGGTTTTTTGTTTATTAAAACTGGTGCATTTATCTTGCTAGTGGCATTCTGGGACTCGCCTTGGATGACTTCTCCATTAGTGTTCTGGACATAGAAACTAGGAAGATTGTCAGAGAGTTTTCTGGACACCAAGGCCAAATAAATGACATGGTAAAACAAACTCTAACTAATAAAACTTGACTCATTTCTACTTTTGT... | benign | 95,998 |
Gene mutation in APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112707476—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | ATAAATACAGAATTTAAAAAACATTAAAAGGAAAATGCTAAAATGAGTTCTGCTCTAGTTCAAAAGAAAAGAACGACAGTAGTTTCCAGGCAGGCCCTTTGAGGTCCTACACAGGGATAGTAATACGACTGGGACCCTTAAGTGGGGGTAACTGAATGAAATCTCTAATGAAAGCCTGCTAATGACACAGAATCAAATCTCTGAGTAAGCCTGTCTCCAAATCCAATTTCTCTAGATGGGAAGGGCATGGGCTTTATGGTCAGCACTATCCCTTAATGTGAGACCTTGGGCAAGGGACTTAATCTCTCTGAATTTGCCCA... | ATAAATACAGAATTTAAAAAACATTAAAAGGAAAATGCTAAAATGAGTTCTGCTCTAGTTCAAAAGAAAAGAACGACAGTAGTTTCCAGGCAGGCCCTTTGAGGTCCTACACAGGGATAGTAATACGACTGGGACCCTTAAGTGGGGGTAACTGAATGAAATCTCTAATGAAAGCCTGCTAATGACACAGAATCAAATCTCTGAGTAAGCCTGTCTCCAAATCCAATTTCTCTAGATGGGAAGGGCATGGGCTTTATGGTCAGCACTATCCCTTAATGTGAGACCTTGGGCAAGGGACTTAATCTCTCTGAATTTGCCCA... | benign | 96,018 |
The genetic variant at chromosome 5, position 112707526, affecting gene APC: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGCTCTAGTTCAAAAGAAAAGAACGACAGTAGTTTCCAGGCAGGCCCTTTGAGGTCCTACACAGGGATAGTAATACGACTGGGACCCTTAAGTGGGGGTAACTGAATGAAATCTCTAATGAAAGCCTGCTAATGACACAGAATCAAATCTCTGAGTAAGCCTGTCTCCAAATCCAATTTCTCTAGATGGGAAGGGCATGGGCTTTATGGTCAGCACTATCCCTTAATGTGAGACCTTGGGCAAGGGACTTAATCTCTCTGAATTTGCCCATGTATAAAAGTGAGGATAATTATCTAGCAGGGCTGTGGTGAGGATTTCAT... | TGCTCTAGTTCAAAAGAAAAGAACGACAGTAGTTTCCAGGCAGGCCCTTTGAGGTCCTACACAGGGATAGTAATACGACTGGGACCCTTAAGTGGGGGTAACTGAATGAAATCTCTAATGAAAGCCTGCTAATGACACAGAATCAAATCTCTGAGTAAGCCTGTCTCCAAATCCAATTTCTCTAGATGGGAAGGGCATGGGCTTTATGGTCAGCACTATCCCTTAATGTGAGACCTTGGGCAAGGGACTTAATCTCTCTGAATTTGCCCATGTATAAAAGTGAGGATAATTATCTAGCAGGGCTGTGGTGAGGATTTCAT... | pathogenic | 96,023 |
Variant at chromosome position 112707584, chromosome 5, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | ACACAGGGATAGTAATACGACTGGGACCCTTAAGTGGGGGTAACTGAATGAAATCTCTAATGAAAGCCTGCTAATGACACAGAATCAAATCTCTGAGTAAGCCTGTCTCCAAATCCAATTTCTCTAGATGGGAAGGGCATGGGCTTTATGGTCAGCACTATCCCTTAATGTGAGACCTTGGGCAAGGGACTTAATCTCTCTGAATTTGCCCATGTATAAAAGTGAGGATAATTATCTAGCAGGGCTGTGGTGAGGATTTCATATCTAACATAGTTCACAGCACATATAATAGGGATTGCATTAACTTGAAGCCTTCCTTC... | ACACAGGGATAGTAATACGACTGGGACCCTTAAGTGGGGGTAACTGAATGAAATCTCTAATGAAAGCCTGCTAATGACACAGAATCAAATCTCTGAGTAAGCCTGTCTCCAAATCCAATTTCTCTAGATGGGAAGGGCATGGGCTTTATGGTCAGCACTATCCCTTAATGTGAGACCTTGGGCAAGGGACTTAATCTCTCTGAATTTGCCCATGTATAAAAGTGAGGATAATTATCTAGCAGGGCTGTGGTGAGGATTTCATATCTAACATAGTTCACAGCACATATAATAGGGATTGCATTAACTTGAAGCCTTCCTTC... | benign | 96,030 |
Clinical classification of chromosome 5, position 112707584, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s) if pathogenic? | benign | ACACAGGGATAGTAATACGACTGGGACCCTTAAGTGGGGGTAACTGAATGAAATCTCTAATGAAAGCCTGCTAATGACACAGAATCAAATCTCTGAGTAAGCCTGTCTCCAAATCCAATTTCTCTAGATGGGAAGGGCATGGGCTTTATGGTCAGCACTATCCCTTAATGTGAGACCTTGGGCAAGGGACTTAATCTCTCTGAATTTGCCCATGTATAAAAGTGAGGATAATTATCTAGCAGGGCTGTGGTGAGGATTTCATATCTAACATAGTTCACAGCACATATAATAGGGATTGCATTAACTTGAAGCCTTCCTTC... | ACACAGGGATAGTAATACGACTGGGACCCTTAAGTGGGGGTAACTGAATGAAATCTCTAATGAAAGCCTGCTAATGACACAGAATCAAATCTCTGAGTAAGCCTGTCTCCAAATCCAATTTCTCTAGATGGGAAGGGCATGGGCTTTATGGTCAGCACTATCCCTTAATGTGAGACCTTGGGCAAGGGACTTAATCTCTCTGAATTTGCCCATGTATAAAAGTGAGGATAATTATCTAGCAGGGCTGTGGTGAGGATTTCATATCTAACATAGTTCACAGCACATATAATAGGGATTGCATTAACTTGAAGCCTTCCTTC... | benign | 96,031 |
Regarding the variant found on chromosome 5 at position 112707585 in gene APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CACAGGGATAGTAATACGACTGGGACCCTTAAGTGGGGGTAACTGAATGAAATCTCTAATGAAAGCCTGCTAATGACACAGAATCAAATCTCTGAGTAAGCCTGTCTCCAAATCCAATTTCTCTAGATGGGAAGGGCATGGGCTTTATGGTCAGCACTATCCCTTAATGTGAGACCTTGGGCAAGGGACTTAATCTCTCTGAATTTGCCCATGTATAAAAGTGAGGATAATTATCTAGCAGGGCTGTGGTGAGGATTTCATATCTAACATAGTTCACAGCACATATAATAGGGATTGCATTAACTTGAAGCCTTCCTTCT... | CACAGGGATAGTAATACGACTGGGACCCTTAAGTGGGGGTAACTGAATGAAATCTCTAATGAAAGCCTGCTAATGACACAGAATCAAATCTCTGAGTAAGCCTGTCTCCAAATCCAATTTCTCTAGATGGGAAGGGCATGGGCTTTATGGTCAGCACTATCCCTTAATGTGAGACCTTGGGCAAGGGACTTAATCTCTCTGAATTTGCCCATGTATAAAAGTGAGGATAATTATCTAGCAGGGCTGTGGTGAGGATTTCATATCTAACATAGTTCACAGCACATATAATAGGGATTGCATTAACTTGAAGCCTTCCTTCT... | benign | 96,032 |
The genetic variant at chromosome 5, position 112754963, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease name(s) if pathogenic? | 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'] | TTTATTCCTGTAATAAAGGGTACTTTTAGCAGTCTCTGCTCATCTTGCCCATCCGGCTCTTTTTGTGGTTGTGTAAGGTTATAACTTCTGTGTCTCAGTAAACTTGTGCATGCCCATTTTTTTCTCTGTTACTACCTTTTCTCTTATTTTGTTTTATTATTTTGATGTAAAATTACCTGTTAATTTTATTTGAAATGAGAAATTTTAAGGTTCACATTATTCAAATTCTGTCAGATCCCTACCTCTGTCATATGGTTTATAATGTGCTGGGTATTTTCAGACCTGCTTATTAAAAAGATGTAAAACAAAATAATGATCAC... | TTTATTCCTGTAATAAAGGGTACTTTTAGCAGTCTCTGCTCATCTTGCCCATCCGGCTCTTTTTGTGGTTGTGTAAGGTTATAACTTCTGTGTCTCAGTAAACTTGTGCATGCCCATTTTTTTCTCTGTTACTACCTTTTCTCTTATTTTGTTTTATTATTTTGATGTAAAATTACCTGTTAATTTTATTTGAAATGAGAAATTTTAAGGTTCACATTATTCAAATTCTGTCAGATCCCTACCTCTGTCATATGGTTTATAATGTGCTGGGTATTTTCAGACCTGCTTATTAAAAAGATGTAAAACAAAATAATGATCAC... | pathogenic | 96,064 |
Does the chromosome 5 mutation at position 112754993 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', 'Hereditary_cancer-predisposing_syndrome'] | AGTCTCTGCTCATCTTGCCCATCCGGCTCTTTTTGTGGTTGTGTAAGGTTATAACTTCTGTGTCTCAGTAAACTTGTGCATGCCCATTTTTTTCTCTGTTACTACCTTTTCTCTTATTTTGTTTTATTATTTTGATGTAAAATTACCTGTTAATTTTATTTGAAATGAGAAATTTTAAGGTTCACATTATTCAAATTCTGTCAGATCCCTACCTCTGTCATATGGTTTATAATGTGCTGGGTATTTTCAGACCTGCTTATTAAAAAGATGTAAAACAAAATAATGATCACTCCTGTGGATTTTTCCTTTATTTTTGAGAT... | AGTCTCTGCTCATCTTGCCCATCCGGCTCTTTTTGTGGTTGTGTAAGGTTATAACTTCTGTGTCTCAGTAAACTTGTGCATGCCCATTTTTTTCTCTGTTACTACCTTTTCTCTTATTTTGTTTTATTATTTTGATGTAAAATTACCTGTTAATTTTATTTGAAATGAGAAATTTTAAGGTTCACATTATTCAAATTCTGTCAGATCCCTACCTCTGTCATATGGTTTATAATGTGCTGGGTATTTTCAGACCTGCTTATTAAAAAGATGTAAAACAAAATAATGATCACTCCTGTGGATTTTTCCTTTATTTTTGAGAT... | pathogenic | 96,072 |
Variant in gene APC (APC regulator of WNT signaling pathway), located at chromosome 5 position 112754994: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | GTCTCTGCTCATCTTGCCCATCCGGCTCTTTTTGTGGTTGTGTAAGGTTATAACTTCTGTGTCTCAGTAAACTTGTGCATGCCCATTTTTTTCTCTGTTACTACCTTTTCTCTTATTTTGTTTTATTATTTTGATGTAAAATTACCTGTTAATTTTATTTGAAATGAGAAATTTTAAGGTTCACATTATTCAAATTCTGTCAGATCCCTACCTCTGTCATATGGTTTATAATGTGCTGGGTATTTTCAGACCTGCTTATTAAAAAGATGTAAAACAAAATAATGATCACTCCTGTGGATTTTTCCTTTATTTTTGAGATG... | GTCTCTGCTCATCTTGCCCATCCGGCTCTTTTTGTGGTTGTGTAAGGTTATAACTTCTGTGTCTCAGTAAACTTGTGCATGCCCATTTTTTTCTCTGTTACTACCTTTTCTCTTATTTTGTTTTATTATTTTGATGTAAAATTACCTGTTAATTTTATTTGAAATGAGAAATTTTAAGGTTCACATTATTCAAATTCTGTCAGATCCCTACCTCTGTCATATGGTTTATAATGTGCTGGGTATTTTCAGACCTGCTTATTAAAAAGATGTAAAACAAAATAATGATCACTCCTGTGGATTTTTCCTTTATTTTTGAGATG... | pathogenic | 96,073 |
Evaluate the clinical significance of the mutation at chromosome 5, position 112755035 in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GTAAGGTTATAACTTCTGTGTCTCAGTAAACTTGTGCATGCCCATTTTTTTCTCTGTTACTACCTTTTCTCTTATTTTGTTTTATTATTTTGATGTAAAATTACCTGTTAATTTTATTTGAAATGAGAAATTTTAAGGTTCACATTATTCAAATTCTGTCAGATCCCTACCTCTGTCATATGGTTTATAATGTGCTGGGTATTTTCAGACCTGCTTATTAAAAAGATGTAAAACAAAATAATGATCACTCCTGTGGATTTTTCCTTTATTTTTGAGATGTCTCCTTTGGCTGCATTACTTCTTCACCCCTTGCCCATTGA... | GTAAGGTTATAACTTCTGTGTCTCAGTAAACTTGTGCATGCCCATTTTTTTCTCTGTTACTACCTTTTCTCTTATTTTGTTTTATTATTTTGATGTAAAATTACCTGTTAATTTTATTTGAAATGAGAAATTTTAAGGTTCACATTATTCAAATTCTGTCAGATCCCTACCTCTGTCATATGGTTTATAATGTGCTGGGTATTTTCAGACCTGCTTATTAAAAAGATGTAAAACAAAATAATGATCACTCCTGTGGATTTTTCCTTTATTTTTGAGATGTCTCCTTTGGCTGCATTACTTCTTCACCCCTTGCCCATTGA... | benign | 96,084 |
Is the genetic variant on chromosome 5, position 112766334, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Carcinoma_of_colon', 'Classic_or_attenuated_familial_adenomatous_polyposis', 'Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | TTAAAAAGGCTGCTCTGACAGCTCTGTGCAAGGTTGAGCCACTTGGGAAATTATTTTCATAGTTTAGGTAGGGTTAATAACAAGATAGTGGCAGTAAGAATATGAAAGAGATAGCTGTAAGAGAGCTAATAGAGGTAGAATCACCAGAAATCCATAACTGGGAATGTGAAGGAAGAGGTGCTAAGGATTTGAGCTGGAGGAGAAAGAGAAGGCTAATGCCATTTAACTGAGAGAATACAAGGCAAAGAATAGGCTTTATTGGTACAAAATGTTAGTTCAGTTCTGGACATTTAGATGTATGGTACCTGTCATACAGATGT... | TTAAAAAGGCTGCTCTGACAGCTCTGTGCAAGGTTGAGCCACTTGGGAAATTATTTTCATAGTTTAGGTAGGGTTAATAACAAGATAGTGGCAGTAAGAATATGAAAGAGATAGCTGTAAGAGAGCTAATAGAGGTAGAATCACCAGAAATCCATAACTGGGAATGTGAAGGAAGAGGTGCTAAGGATTTGAGCTGGAGGAGAAAGAGAAGGCTAATGCCATTTAACTGAGAGAATACAAGGCAAAGAATAGGCTTTATTGGTACAAAATGTTAGTTCAGTTCTGGACATTTAGATGTATGGTACCTGTCATACAGATGT... | pathogenic | 96,101 |
A genetic alteration at chromosome 5, position 112766336, in gene APC (APC regulator of WNT signaling pathway)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_adenomatous_polyposis_1'] | AAAAAGGCTGCTCTGACAGCTCTGTGCAAGGTTGAGCCACTTGGGAAATTATTTTCATAGTTTAGGTAGGGTTAATAACAAGATAGTGGCAGTAAGAATATGAAAGAGATAGCTGTAAGAGAGCTAATAGAGGTAGAATCACCAGAAATCCATAACTGGGAATGTGAAGGAAGAGGTGCTAAGGATTTGAGCTGGAGGAGAAAGAGAAGGCTAATGCCATTTAACTGAGAGAATACAAGGCAAAGAATAGGCTTTATTGGTACAAAATGTTAGTTCAGTTCTGGACATTTAGATGTATGGTACCTGTCATACAGATGTAA... | AAAAAGGCTGCTCTGACAGCTCTGTGCAAGGTTGAGCCACTTGGGAAATTATTTTCATAGTTTAGGTAGGGTTAATAACAAGATAGTGGCAGTAAGAATATGAAAGAGATAGCTGTAAGAGAGCTAATAGAGGTAGAATCACCAGAAATCCATAACTGGGAATGTGAAGGAAGAGGTGCTAAGGATTTGAGCTGGAGGAGAAAGAGAAGGCTAATGCCATTTAACTGAGAGAATACAAGGCAAAGAATAGGCTTTATTGGTACAAAATGTTAGTTCAGTTCTGGACATTTAGATGTATGGTACCTGTCATACAGATGTAA... | pathogenic | 96,103 |
Clinically, how would you classify the variant at chromosome 5, position 112766344, 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'] | TGCTCTGACAGCTCTGTGCAAGGTTGAGCCACTTGGGAAATTATTTTCATAGTTTAGGTAGGGTTAATAACAAGATAGTGGCAGTAAGAATATGAAAGAGATAGCTGTAAGAGAGCTAATAGAGGTAGAATCACCAGAAATCCATAACTGGGAATGTGAAGGAAGAGGTGCTAAGGATTTGAGCTGGAGGAGAAAGAGAAGGCTAATGCCATTTAACTGAGAGAATACAAGGCAAAGAATAGGCTTTATTGGTACAAAATGTTAGTTCAGTTCTGGACATTTAGATGTATGGTACCTGTCATACAGATGTAAAGCATCCA... | TGCTCTGACAGCTCTGTGCAAGGTTGAGCCACTTGGGAAATTATTTTCATAGTTTAGGTAGGGTTAATAACAAGATAGTGGCAGTAAGAATATGAAAGAGATAGCTGTAAGAGAGCTAATAGAGGTAGAATCACCAGAAATCCATAACTGGGAATGTGAAGGAAGAGGTGCTAAGGATTTGAGCTGGAGGAGAAAGAGAAGGCTAATGCCATTTAACTGAGAGAATACAAGGCAAAGAATAGGCTTTATTGGTACAAAATGTTAGTTCAGTTCTGGACATTTAGATGTATGGTACCTGTCATACAGATGTAAAGCATCCA... | pathogenic | 96,108 |
Clinical significance of chromosome 5, position 112766353, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AGCTCTGTGCAAGGTTGAGCCACTTGGGAAATTATTTTCATAGTTTAGGTAGGGTTAATAACAAGATAGTGGCAGTAAGAATATGAAAGAGATAGCTGTAAGAGAGCTAATAGAGGTAGAATCACCAGAAATCCATAACTGGGAATGTGAAGGAAGAGGTGCTAAGGATTTGAGCTGGAGGAGAAAGAGAAGGCTAATGCCATTTAACTGAGAGAATACAAGGCAAAGAATAGGCTTTATTGGTACAAAATGTTAGTTCAGTTCTGGACATTTAGATGTATGGTACCTGTCATACAGATGTAAAGCATCCATCAGTTGGT... | AGCTCTGTGCAAGGTTGAGCCACTTGGGAAATTATTTTCATAGTTTAGGTAGGGTTAATAACAAGATAGTGGCAGTAAGAATATGAAAGAGATAGCTGTAAGAGAGCTAATAGAGGTAGAATCACCAGAAATCCATAACTGGGAATGTGAAGGAAGAGGTGCTAAGGATTTGAGCTGGAGGAGAAAGAGAAGGCTAATGCCATTTAACTGAGAGAATACAAGGCAAAGAATAGGCTTTATTGGTACAAAATGTTAGTTCAGTTCTGGACATTTAGATGTATGGTACCTGTCATACAGATGTAAAGCATCCATCAGTTGGT... | pathogenic | 96,110 |
Clinically, how would you classify the variant at chromosome 5, position 112766353, 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'] | AGCTCTGTGCAAGGTTGAGCCACTTGGGAAATTATTTTCATAGTTTAGGTAGGGTTAATAACAAGATAGTGGCAGTAAGAATATGAAAGAGATAGCTGTAAGAGAGCTAATAGAGGTAGAATCACCAGAAATCCATAACTGGGAATGTGAAGGAAGAGGTGCTAAGGATTTGAGCTGGAGGAGAAAGAGAAGGCTAATGCCATTTAACTGAGAGAATACAAGGCAAAGAATAGGCTTTATTGGTACAAAATGTTAGTTCAGTTCTGGACATTTAGATGTATGGTACCTGTCATACAGATGTAAAGCATCCATCAGTTGGT... | AGCTCTGTGCAAGGTTGAGCCACTTGGGAAATTATTTTCATAGTTTAGGTAGGGTTAATAACAAGATAGTGGCAGTAAGAATATGAAAGAGATAGCTGTAAGAGAGCTAATAGAGGTAGAATCACCAGAAATCCATAACTGGGAATGTGAAGGAAGAGGTGCTAAGGATTTGAGCTGGAGGAGAAAGAGAAGGCTAATGCCATTTAACTGAGAGAATACAAGGCAAAGAATAGGCTTTATTGGTACAAAATGTTAGTTCAGTTCTGGACATTTAGATGTATGGTACCTGTCATACAGATGTAAAGCATCCATCAGTTGGT... | pathogenic | 96,111 |
Is the genetic mutation found on chromosome 5 at position 112766390, 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'] | TCATAGTTTAGGTAGGGTTAATAACAAGATAGTGGCAGTAAGAATATGAAAGAGATAGCTGTAAGAGAGCTAATAGAGGTAGAATCACCAGAAATCCATAACTGGGAATGTGAAGGAAGAGGTGCTAAGGATTTGAGCTGGAGGAGAAAGAGAAGGCTAATGCCATTTAACTGAGAGAATACAAGGCAAAGAATAGGCTTTATTGGTACAAAATGTTAGTTCAGTTCTGGACATTTAGATGTATGGTACCTGTCATACAGATGTAAAGCATCCATCAGTTGGTTGGAAAAGTGAGTCTGAAGTTTGCAAGTGAAGTTAGG... | TCATAGTTTAGGTAGGGTTAATAACAAGATAGTGGCAGTAAGAATATGAAAGAGATAGCTGTAAGAGAGCTAATAGAGGTAGAATCACCAGAAATCCATAACTGGGAATGTGAAGGAAGAGGTGCTAAGGATTTGAGCTGGAGGAGAAAGAGAAGGCTAATGCCATTTAACTGAGAGAATACAAGGCAAAGAATAGGCTTTATTGGTACAAAATGTTAGTTCAGTTCTGGACATTTAGATGTATGGTACCTGTCATACAGATGTAAAGCATCCATCAGTTGGTTGGAAAAGTGAGTCTGAAGTTTGCAAGTGAAGTTAGG... | pathogenic | 96,120 |
Regarding the variant at chromosome 5 and position 112766406, 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'] | GTTAATAACAAGATAGTGGCAGTAAGAATATGAAAGAGATAGCTGTAAGAGAGCTAATAGAGGTAGAATCACCAGAAATCCATAACTGGGAATGTGAAGGAAGAGGTGCTAAGGATTTGAGCTGGAGGAGAAAGAGAAGGCTAATGCCATTTAACTGAGAGAATACAAGGCAAAGAATAGGCTTTATTGGTACAAAATGTTAGTTCAGTTCTGGACATTTAGATGTATGGTACCTGTCATACAGATGTAAAGCATCCATCAGTTGGTTGGAAAAGTGAGTCTGAAGTTTGCAAGTGAAGTTAGGATTCGAGACATGTCAT... | GTTAATAACAAGATAGTGGCAGTAAGAATATGAAAGAGATAGCTGTAAGAGAGCTAATAGAGGTAGAATCACCAGAAATCCATAACTGGGAATGTGAAGGAAGAGGTGCTAAGGATTTGAGCTGGAGGAGAAAGAGAAGGCTAATGCCATTTAACTGAGAGAATACAAGGCAAAGAATAGGCTTTATTGGTACAAAATGTTAGTTCAGTTCTGGACATTTAGATGTATGGTACCTGTCATACAGATGTAAAGCATCCATCAGTTGGTTGGAAAAGTGAGTCTGAAGTTTGCAAGTGAAGTTAGGATTCGAGACATGTCAT... | pathogenic | 96,127 |
For chromosome 5, position 112767197, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['APC-related_disorder', 'Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGCTGGAGTGCAGTGGTGAGACTGTGGCTCACTGCAGCCTCAAACTTCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACT... | GGCTGGAGTGCAGTGGTGAGACTGTGGCTCACTGCAGCCTCAAACTTCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACT... | pathogenic | 96,147 |
Clinical classification of chromosome 5, position 112767216, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | GACTGTGGCTCACTGCAGCCTCAAACTTCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTT... | GACTGTGGCTCACTGCAGCCTCAAACTTCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTT... | pathogenic | 96,150 |
Determine if the mutation at chromosome 5, position 112767221 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'] | TGGCTCACTGCAGCCTCAAACTTCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATG... | TGGCTCACTGCAGCCTCAAACTTCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATG... | pathogenic | 96,152 |
Variant on chromosome 5, at position 112767222, 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'] | GGCTCACTGCAGCCTCAAACTTCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGT... | GGCTCACTGCAGCCTCAAACTTCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGT... | pathogenic | 96,153 |
A genetic alteration at chromosome 5, position 112767234, in gene APC (APC regulator of WNT signaling pathway)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCTCAAACTTCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTA... | CCTCAAACTTCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTA... | pathogenic | 96,159 |
Is the chromosome 5, position 112767242 variant in APC (APC regulator of WNT signaling pathway) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTT... | TTCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTT... | pathogenic | 96,161 |
Does the chromosome 5 mutation at position 112767256 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', 'Hereditary_cancer-predisposing_syndrome'] | GATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTC... | GATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTC... | pathogenic | 96,170 |
Evaluate the clinical significance of the mutation at chromosome 5, position 112767263 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'] | CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTCCATTTAG... | CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTCCATTTAG... | pathogenic | 96,172 |
Evaluate this variant at chromosome 5, position 112767307, 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'] | CACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTCCATTTAGTTACAAAGTTGCAAATGTTCAAATATTTTGTCTTGCATTCAGGA... | CACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTCCATTTAGTTACAAAGTTGCAAATGTTCAAATATTTTGTCTTGCATTCAGGA... | pathogenic | 96,180 |
Does the chromosome 5 mutation at position 112767353 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', 'Hereditary_cancer-predisposing_syndrome'] | AGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTCCATTTAGTTACAAAGTTGCAAATGTTCAAATATTTTGTCTTGCATTCAGGAAACCTGATTGGCCAAAGAACTATGCTAGGAGCTAGAATGGAATGCC... | AGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTCCATTTAGTTACAAAGTTGCAAATGTTCAAATATTTTGTCTTGCATTCAGGAAACCTGATTGGCCAAAGAACTATGCTAGGAGCTAGAATGGAATGCC... | pathogenic | 96,190 |
A mutation at chromosome position 112767354 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'] | GTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTCCATTTAGTTACAAAGTTGCAAATGTTCAAATATTTTGTCTTGCATTCAGGAAACCTGATTGGCCAAAGAACTATGCTAGGAGCTAGAATGGAATGCCT... | GTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTCCATTTAGTTACAAAGTTGCAAATGTTCAAATATTTTGTCTTGCATTCAGGAAACCTGATTGGCCAAAGAACTATGCTAGGAGCTAGAATGGAATGCCT... | pathogenic | 96,191 |
Does the genetic variant at chromosome 5, position 112767363, 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'] | TGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTCCATTTAGTTACAAAGTTGCAAATGTTCAAATATTTTGTCTTGCATTCAGGAAACCTGATTGGCCAAAGAACTATGCTAGGAGCTAGAATGGAATGCCTCAGTAAATG... | TGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTCCATTTAGTTACAAAGTTGCAAATGTTCAAATATTTTGTCTTGCATTCAGGAAACCTGATTGGCCAAAGAACTATGCTAGGAGCTAGAATGGAATGCCTCAGTAAATG... | pathogenic | 96,195 |
Does the variant on chromosome 5 at location 112767384 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', 'Hereditary_cancer-predisposing_syndrome'] | ACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTCCATTTAGTTACAAAGTTGCAAATGTTCAAATATTTTGTCTTGCATTCAGGAAACCTGATTGGCCAAAGAACTATGCTAGGAGCTAGAATGGAATGCCTCAGTAAATGGAAAATAATATAAATTATTAT... | ACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTCCATTTAGTTACAAAGTTGCAAATGTTCAAATATTTTGTCTTGCATTCAGGAAACCTGATTGGCCAAAGAACTATGCTAGGAGCTAGAATGGAATGCCTCAGTAAATGGAAAATAATATAAATTATTAT... | pathogenic | 96,201 |
Does the genetic variant at chromosome 5, position 112775605, impacting gene APC (APC regulator of WNT signaling pathway), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GTCAAGTAACAAATATTTTGTATGTTATATGTATTATATACTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCAT... | GTCAAGTAACAAATATTTTGTATGTTATATGTATTATATACTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCAT... | benign | 96,215 |
A genetic variant on chromosome 5, position 112775612, affects the gene APC (APC regulator of WNT signaling pathway). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AACAAATATTTTGTATGTTATATGTATTATATACTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGA... | AACAAATATTTTGTATGTTATATGTATTATATACTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGA... | benign | 96,217 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome position 112775612 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AACAAATATTTTGTATGTTATATGTATTATATACTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGA... | AACAAATATTTTGTATGTTATATGTATTATATACTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGA... | benign | 96,218 |
Regarding the variant found on chromosome 5 at position 112775612 in gene APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | AACAAATATTTTGTATGTTATATGTATTATATACTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGA... | AACAAATATTTTGTATGTTATATGTATTATATACTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGA... | benign | 96,219 |
A genetic variant on chromosome 5, position 112775623, 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', 'Hereditary_cancer-predisposing_syndrome'] | TGTATGTTATATGTATTATATACTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATT... | TGTATGTTATATGTATTATATACTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATT... | pathogenic | 96,226 |
Regarding the variant at chromosome 5 and position 112775631, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Carcinoma_of_colon', 'Classic_or_attenuated_familial_adenomatous_polyposis', 'Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | ATATGTATTATATACTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAG... | ATATGTATTATATACTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAG... | pathogenic | 96,237 |
The mutation in gene APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112775645—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | CTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTA... | CTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTA... | pathogenic | 96,240 |
Mutation at chromosome 5, position 112775652, within APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome'] | AAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAAC... | AAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAAC... | pathogenic | 96,241 |
Regarding the variant found on chromosome 5 at position 112775653 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'] | AGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACT... | AGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACT... | pathogenic | 96,242 |
The genetic variant at chromosome 5, position 112775657, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGAC... | AGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGAC... | pathogenic | 96,244 |
Variant chromosome 5, position 112775660, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s)? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1'] | GAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATG... | GAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATG... | pathogenic | 96,245 |
Is the genetic variant on chromosome 5, position 112775664, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_adenomatous_polyposis_1'] | ACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAA... | ACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAA... | pathogenic | 96,247 |
Variant in APC (APC regulator of WNT signaling pathway), chromosome 5, position 112775666—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAG... | ATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAG... | pathogenic | 96,249 |
The genetic variant at chromosome 5, position 112775666, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAG... | ATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAG... | pathogenic | 96,250 |
Evaluate this variant at chromosome 5, position 112775679, 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'] | AATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAAT... | AATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAAT... | pathogenic | 96,255 |
Variant chromosome 5, position 112775681, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTA... | TCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTA... | pathogenic | 96,257 |
Mutation found at chromosome 5 position 112775681, 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'] | TCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTA... | TCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTA... | pathogenic | 96,258 |
Determine if the mutation at chromosome 5, position 112775682 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'] | CATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAA... | CATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAA... | pathogenic | 96,259 |
Does the variant impacting APC (APC regulator of WNT signaling pathway) on chromosome 5, position 112775703, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATG... | TCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATG... | pathogenic | 96,271 |
Regarding the variant found on chromosome 5 at position 112775703 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'] | TCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATG... | TCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATG... | pathogenic | 96,272 |
Is the chromosome 5, position 112775704 variant in APC (APC regulator of WNT signaling pathway) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGG... | CTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGG... | pathogenic | 96,273 |
The chromosome 5, position 112775707 genetic variant in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAG... | GTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAG... | pathogenic | 96,274 |
Located at chromosome 5 position 112775708, 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'] | TATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGC... | TATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGC... | pathogenic | 96,275 |
Clinically, how would you classify the variant at chromosome 5, position 112775710, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCAT... | TAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCAT... | pathogenic | 96,276 |
A mutation at chromosome position 112775712 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'] | AGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATAC... | AGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATAC... | pathogenic | 96,277 |
For chromosome 5, position 112775719, 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'] | CCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATACATTGGTA... | CCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATACATTGGTA... | pathogenic | 96,279 |
Does the genetic variant at chromosome 5, position 112775720, 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'] | CATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATACATTGGTAT... | CATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATACATTGGTAT... | pathogenic | 96,280 |
Located at chromosome 5 position 112775720, 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'] | CATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATACATTGGTAT... | CATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATACATTGGTAT... | pathogenic | 96,281 |
A genetic variant on chromosome 5, position 112775726, 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', 'Hereditary_cancer-predisposing_syndrome'] | GTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATACATTGGTATAACATC... | GTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATACATTGGTATAACATC... | pathogenic | 96,285 |
Is the genetic mutation found on chromosome 5 at position 112775732, 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'] | ACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATACATTGGTATAACATCTCACAA... | ACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATACATTGGTATAACATCTCACAA... | pathogenic | 96,286 |
Variant in APC (APC regulator of WNT signaling pathway), chromosome 5, position 112775737—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Inherited_polyposis_and_early_onset_colorectal_cancer_-_germline_testing'] | TATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATACATTGGTATAACATCTCACAAGGGCA... | TATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATACATTGGTATAACATCTCACAAGGGCA... | pathogenic | 96,287 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 112775738, 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'] | ATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATACATTGGTATAACATCTCACAAGGGCAG... | ATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACCAGTGATACACCATTTAAAAAAACTAGACATGAAAAAGCAAAAAGTTGAATTAAACACTTAAATTGGTGATGATGGTAGCATACATTGGTATAACATCTCACAAGGGCAG... | pathogenic | 96,290 |
The chromosome 5, position 112780770 genetic variant in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TTTAGTAGAGACAAGGTTTTGATGTGTTAGCCAGGATGTTCTTGATATCCTGACCTCGTGATCCACCCACCTTGGTCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAA... | TTTAGTAGAGACAAGGTTTTGATGTGTTAGCCAGGATGTTCTTGATATCCTGACCTCGTGATCCACCCACCTTGGTCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAA... | benign | 96,300 |
Considering the variant on chromosome 5, location 112780793, 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'] | GTGTTAGCCAGGATGTTCTTGATATCCTGACCTCGTGATCCACCCACCTTGGTCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGA... | GTGTTAGCCAGGATGTTCTTGATATCCTGACCTCGTGATCCACCCACCTTGGTCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGA... | pathogenic | 96,312 |
Regarding the variant found on chromosome 5 at position 112780797 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'] | TAGCCAGGATGTTCTTGATATCCTGACCTCGTGATCCACCCACCTTGGTCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAA... | TAGCCAGGATGTTCTTGATATCCTGACCTCGTGATCCACCCACCTTGGTCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAA... | pathogenic | 96,316 |
Does the variant impacting APC (APC regulator of WNT signaling pathway) on chromosome 5, position 112780813, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GATATCCTGACCTCGTGATCCACCCACCTTGGTCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAATCATTCAGGGTTTTGA... | GATATCCTGACCTCGTGATCCACCCACCTTGGTCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAATCATTCAGGGTTTTGA... | pathogenic | 96,322 |
Is the genetic change at chromosome 5, position 112780815, within gene APC (APC regulator of WNT signaling pathway) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1'] | TATCCTGACCTCGTGATCCACCCACCTTGGTCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAATCATTCAGGGTTTTGAGA... | TATCCTGACCTCGTGATCCACCCACCTTGGTCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAATCATTCAGGGTTTTGAGA... | pathogenic | 96,323 |
Clinical classification of chromosome 5, position 112780829, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | GATCCACCCACCTTGGTCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAATCATTCAGGGTTTTGAGAGAGAAAGGATCCCT... | GATCCACCCACCTTGGTCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAATCATTCAGGGTTTTGAGAGAGAAAGGATCCCT... | pathogenic | 96,327 |
A mutation at chromosome position 112780864 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'] | TACAGGTGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAATCATTCAGGGTTTTGAGAGAGAAAGGATCCCTTTTTCTGAGAGGGCCCTTAACATGTTAACACTTAA... | TACAGGTGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAATCATTCAGGGTTTTGAGAGAGAAAGGATCCCTTTTTCTGAGAGGGCCCTTAACATGTTAACACTTAA... | pathogenic | 96,335 |
Variant chromosome 5, position 112780870, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAATCATTCAGGGTTTTGAGAGAGAAAGGATCCCTTTTTCTGAGAGGGCCCTTAACATGTTAACACTTAACAGTGC... | TGTGAGCCACTGCGCCCAGCCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAATCATTCAGGGTTTTGAGAGAGAAAGGATCCCTTTTTCTGAGAGGGCCCTTAACATGTTAACACTTAACAGTGC... | pathogenic | 96,338 |
Benign or pathogenic: chromosome 5, position 112780889, gene APC (APC regulator of WNT signaling pathway) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAATCATTCAGGGTTTTGAGAGAGAAAGGATCCCTTTTTCTGAGAGGGCCCTTAACATGTTAACACTTAACAGTGCTCCTGGGAATTAAGGAGCA... | CCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAATCATTCAGGGTTTTGAGAGAGAAAGGATCCCTTTTTCTGAGAGGGCCCTTAACATGTTAACACTTAACAGTGCTCCTGGGAATTAAGGAGCA... | pathogenic | 96,344 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 112780889, gene APC (APC regulator of WNT signaling pathway): what disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAATCATTCAGGGTTTTGAGAGAGAAAGGATCCCTTTTTCTGAGAGGGCCCTTAACATGTTAACACTTAACAGTGCTCCTGGGAATTAAGGAGCA... | CCACATGTAATTTTTTAAAAGAAAATAGACTAATTAAAATATAACGTACTCTCTTAGCTTAGATTTTTCATTTTCTACTACTACTTTGAGAGACCAAAATAGACAAAAAGGTAAAAACTGAAAGAGAGAAAACCGTTTTGAAAACATGTAGCTAGCCAGGTTTCCTGAGTGGACGTTGGCTGACAGGAGGTGGAACTGGAAGCTTAAGTGCTCATTCTCCTAGAATAATCATTCAGGGTTTTGAGAGAGAAAGGATCCCTTTTTCTGAGAGGGCCCTTAACATGTTAACACTTAACAGTGCTCCTGGGAATTAAGGAGCA... | pathogenic | 96,345 |
Is the chromosome 5, position 112792425 variant in APC (APC regulator of WNT signaling pathway) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GTGCTGTAGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCGAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCACGCGTCACCCATGCCTGGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGAGTGGTCTCAATCTTCTGACCTAGTGATCCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTGCAGGCGTGAGCCACCGTGCCCGGCAGCGAACACAACTTGAGTTTTCTGTTCTTTGTTTATCATAAGACTGGATGATAGCAGTAAACATTTTTA... | GTGCTGTAGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCGAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCACGCGTCACCCATGCCTGGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGAGTGGTCTCAATCTTCTGACCTAGTGATCCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTGCAGGCGTGAGCCACCGTGCCCGGCAGCGAACACAACTTGAGTTTTCTGTTCTTTGTTTATCATAAGACTGGATGATAGCAGTAAACATTTTTA... | benign | 96,361 |
A genetic variant at chromosome 5, position 112792473, 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', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCACGCGTCACCCATGCCTGGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGAGTGGTCTCAATCTTCTGACCTAGTGATCCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTGCAGGCGTGAGCCACCGTGCCCGGCAGCGAACACAACTTGAGTTTTCTGTTCTTTGTTTATCATAAGACTGGATGATAGCAGTAAACATTTTTACTATGGTAGTAAGAAAAGCATGAAGGCATTGTATTTAAGTAAAACTAG... | GAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCACGCGTCACCCATGCCTGGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGAGTGGTCTCAATCTTCTGACCTAGTGATCCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTGCAGGCGTGAGCCACCGTGCCCGGCAGCGAACACAACTTGAGTTTTCTGTTCTTTGTTTATCATAAGACTGGATGATAGCAGTAAACATTTTTACTATGGTAGTAAGAAAAGCATGAAGGCATTGTATTTAAGTAAAACTAG... | pathogenic | 96,380 |
Mutation found at chromosome 5 position 112792482, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCACGCGTCACCCATGCCTGGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGAGTGGTCTCAATCTTCTGACCTAGTGATCCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTGCAGGCGTGAGCCACCGTGCCCGGCAGCGAACACAACTTGAGTTTTCTGTTCTTTGTTTATCATAAGACTGGATGATAGCAGTAAACATTTTTACTATGGTAGTAAGAAAAGCATGAAGGCATTGTATTTAAGTAAAACTAGATGTGATCA... | TCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCACGCGTCACCCATGCCTGGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGAGTGGTCTCAATCTTCTGACCTAGTGATCCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTGCAGGCGTGAGCCACCGTGCCCGGCAGCGAACACAACTTGAGTTTTCTGTTCTTTGTTTATCATAAGACTGGATGATAGCAGTAAACATTTTTACTATGGTAGTAAGAAAAGCATGAAGGCATTGTATTTAAGTAAAACTAGATGTGATCA... | pathogenic | 96,382 |
Is the chromosome 5, position 112792487 variant in APC (APC regulator of WNT signaling pathway) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CCTTAGCCTCCCGAGTAGCTGGGATTACAGGCACGCGTCACCCATGCCTGGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGAGTGGTCTCAATCTTCTGACCTAGTGATCCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTGCAGGCGTGAGCCACCGTGCCCGGCAGCGAACACAACTTGAGTTTTCTGTTCTTTGTTTATCATAAGACTGGATGATAGCAGTAAACATTTTTACTATGGTAGTAAGAAAAGCATGAAGGCATTGTATTTAAGTAAAACTAGATGTGATCAAAGAG... | CCTTAGCCTCCCGAGTAGCTGGGATTACAGGCACGCGTCACCCATGCCTGGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGAGTGGTCTCAATCTTCTGACCTAGTGATCCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTGCAGGCGTGAGCCACCGTGCCCGGCAGCGAACACAACTTGAGTTTTCTGTTCTTTGTTTATCATAAGACTGGATGATAGCAGTAAACATTTTTACTATGGTAGTAAGAAAAGCATGAAGGCATTGTATTTAAGTAAAACTAGATGTGATCAAAGAG... | pathogenic | 96,384 |
Variant at chromosome 5, position 112801271, gene APC (APC regulator of WNT signaling pathway): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AACATATTCAAAACATAATTAATGATCTGTTCCTCCTAAGCCCTCTTTACTACCCCACCTTGCAGCAAAAAACCTTCATCCTCCCTCAGTATTACCTATCTCTGTGAGGAGTAGCACCATCATTATTGAATTGTGTGAGCTAAGGAATGTAGGAGTAATACTCCACACCAGACCTCTTCCTCCACTCCCCATATCCTGTCAGCGAACCCGATCAGATTTACCTCTATGTCTCCACTTCTTTTATCTCTGTCACTGCTTCCCTAGTGCATAGTGCCACTGTCTCACACTTATATTAATACATTAGCCTCCTAACTGGTCTT... | AACATATTCAAAACATAATTAATGATCTGTTCCTCCTAAGCCCTCTTTACTACCCCACCTTGCAGCAAAAAACCTTCATCCTCCCTCAGTATTACCTATCTCTGTGAGGAGTAGCACCATCATTATTGAATTGTGTGAGCTAAGGAATGTAGGAGTAATACTCCACACCAGACCTCTTCCTCCACTCCCCATATCCTGTCAGCGAACCCGATCAGATTTACCTCTATGTCTCCACTTCTTTTATCTCTGTCACTGCTTCCCTAGTGCATAGTGCCACTGTCTCACACTTATATTAATACATTAGCCTCCTAACTGGTCTT... | benign | 96,410 |
A genetic alteration at chromosome 5, position 112801276, 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'] | ATTCAAAACATAATTAATGATCTGTTCCTCCTAAGCCCTCTTTACTACCCCACCTTGCAGCAAAAAACCTTCATCCTCCCTCAGTATTACCTATCTCTGTGAGGAGTAGCACCATCATTATTGAATTGTGTGAGCTAAGGAATGTAGGAGTAATACTCCACACCAGACCTCTTCCTCCACTCCCCATATCCTGTCAGCGAACCCGATCAGATTTACCTCTATGTCTCCACTTCTTTTATCTCTGTCACTGCTTCCCTAGTGCATAGTGCCACTGTCTCACACTTATATTAATACATTAGCCTCCTAACTGGTCTTTCCTA... | ATTCAAAACATAATTAATGATCTGTTCCTCCTAAGCCCTCTTTACTACCCCACCTTGCAGCAAAAAACCTTCATCCTCCCTCAGTATTACCTATCTCTGTGAGGAGTAGCACCATCATTATTGAATTGTGTGAGCTAAGGAATGTAGGAGTAATACTCCACACCAGACCTCTTCCTCCACTCCCCATATCCTGTCAGCGAACCCGATCAGATTTACCTCTATGTCTCCACTTCTTTTATCTCTGTCACTGCTTCCCTAGTGCATAGTGCCACTGTCTCACACTTATATTAATACATTAGCCTCCTAACTGGTCTTTCCTA... | pathogenic | 96,412 |
Variant on chromosome 5, at position 112801300, 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'] | TTCCTCCTAAGCCCTCTTTACTACCCCACCTTGCAGCAAAAAACCTTCATCCTCCCTCAGTATTACCTATCTCTGTGAGGAGTAGCACCATCATTATTGAATTGTGTGAGCTAAGGAATGTAGGAGTAATACTCCACACCAGACCTCTTCCTCCACTCCCCATATCCTGTCAGCGAACCCGATCAGATTTACCTCTATGTCTCCACTTCTTTTATCTCTGTCACTGCTTCCCTAGTGCATAGTGCCACTGTCTCACACTTATATTAATACATTAGCCTCCTAACTGGTCTTTCCTATGTTTCCTCCCTACTTAGACCATT... | TTCCTCCTAAGCCCTCTTTACTACCCCACCTTGCAGCAAAAAACCTTCATCCTCCCTCAGTATTACCTATCTCTGTGAGGAGTAGCACCATCATTATTGAATTGTGTGAGCTAAGGAATGTAGGAGTAATACTCCACACCAGACCTCTTCCTCCACTCCCCATATCCTGTCAGCGAACCCGATCAGATTTACCTCTATGTCTCCACTTCTTTTATCTCTGTCACTGCTTCCCTAGTGCATAGTGCCACTGTCTCACACTTATATTAATACATTAGCCTCCTAACTGGTCTTTCCTATGTTTCCTCCCTACTTAGACCATT... | pathogenic | 96,420 |
Determine whether the variant at chromosome 5, position 112801307, 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'] | TAAGCCCTCTTTACTACCCCACCTTGCAGCAAAAAACCTTCATCCTCCCTCAGTATTACCTATCTCTGTGAGGAGTAGCACCATCATTATTGAATTGTGTGAGCTAAGGAATGTAGGAGTAATACTCCACACCAGACCTCTTCCTCCACTCCCCATATCCTGTCAGCGAACCCGATCAGATTTACCTCTATGTCTCCACTTCTTTTATCTCTGTCACTGCTTCCCTAGTGCATAGTGCCACTGTCTCACACTTATATTAATACATTAGCCTCCTAACTGGTCTTTCCTATGTTTCCTCCCTACTTAGACCATTTAAAATT... | TAAGCCCTCTTTACTACCCCACCTTGCAGCAAAAAACCTTCATCCTCCCTCAGTATTACCTATCTCTGTGAGGAGTAGCACCATCATTATTGAATTGTGTGAGCTAAGGAATGTAGGAGTAATACTCCACACCAGACCTCTTCCTCCACTCCCCATATCCTGTCAGCGAACCCGATCAGATTTACCTCTATGTCTCCACTTCTTTTATCTCTGTCACTGCTTCCCTAGTGCATAGTGCCACTGTCTCACACTTATATTAATACATTAGCCTCCTAACTGGTCTTTCCTATGTTTCCTCCCTACTTAGACCATTTAAAATT... | pathogenic | 96,424 |
Is chromosome 5, position 112801339, 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'] | AAAACCTTCATCCTCCCTCAGTATTACCTATCTCTGTGAGGAGTAGCACCATCATTATTGAATTGTGTGAGCTAAGGAATGTAGGAGTAATACTCCACACCAGACCTCTTCCTCCACTCCCCATATCCTGTCAGCGAACCCGATCAGATTTACCTCTATGTCTCCACTTCTTTTATCTCTGTCACTGCTTCCCTAGTGCATAGTGCCACTGTCTCACACTTATATTAATACATTAGCCTCCTAACTGGTCTTTCCTATGTTTCCTCCCTACTTAGACCATTTAAAATTTGACTTAAAAAATAAAATTTACTTGCAACTTT... | AAAACCTTCATCCTCCCTCAGTATTACCTATCTCTGTGAGGAGTAGCACCATCATTATTGAATTGTGTGAGCTAAGGAATGTAGGAGTAATACTCCACACCAGACCTCTTCCTCCACTCCCCATATCCTGTCAGCGAACCCGATCAGATTTACCTCTATGTCTCCACTTCTTTTATCTCTGTCACTGCTTCCCTAGTGCATAGTGCCACTGTCTCACACTTATATTAATACATTAGCCTCCTAACTGGTCTTTCCTATGTTTCCTCCCTACTTAGACCATTTAAAATTTGACTTAAAAAATAAAATTTACTTGCAACTTT... | pathogenic | 96,439 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome position 112801346 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TCATCCTCCCTCAGTATTACCTATCTCTGTGAGGAGTAGCACCATCATTATTGAATTGTGTGAGCTAAGGAATGTAGGAGTAATACTCCACACCAGACCTCTTCCTCCACTCCCCATATCCTGTCAGCGAACCCGATCAGATTTACCTCTATGTCTCCACTTCTTTTATCTCTGTCACTGCTTCCCTAGTGCATAGTGCCACTGTCTCACACTTATATTAATACATTAGCCTCCTAACTGGTCTTTCCTATGTTTCCTCCCTACTTAGACCATTTAAAATTTGACTTAAAAAATAAAATTTACTTGCAACTTTATCCATT... | TCATCCTCCCTCAGTATTACCTATCTCTGTGAGGAGTAGCACCATCATTATTGAATTGTGTGAGCTAAGGAATGTAGGAGTAATACTCCACACCAGACCTCTTCCTCCACTCCCCATATCCTGTCAGCGAACCCGATCAGATTTACCTCTATGTCTCCACTTCTTTTATCTCTGTCACTGCTTCCCTAGTGCATAGTGCCACTGTCTCACACTTATATTAATACATTAGCCTCCTAACTGGTCTTTCCTATGTTTCCTCCCTACTTAGACCATTTAAAATTTGACTTAAAAAATAAAATTTACTTGCAACTTTATCCATT... | pathogenic | 96,441 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 112801373, gene APC (APC regulator of WNT signaling pathway): what disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGTGAGGAGTAGCACCATCATTATTGAATTGTGTGAGCTAAGGAATGTAGGAGTAATACTCCACACCAGACCTCTTCCTCCACTCCCCATATCCTGTCAGCGAACCCGATCAGATTTACCTCTATGTCTCCACTTCTTTTATCTCTGTCACTGCTTCCCTAGTGCATAGTGCCACTGTCTCACACTTATATTAATACATTAGCCTCCTAACTGGTCTTTCCTATGTTTCCTCCCTACTTAGACCATTTAAAATTTGACTTAAAAAATAAAATTTACTTGCAACTTTATCCATTAATATATTAGTATTAATTATGTGGGGG... | TGTGAGGAGTAGCACCATCATTATTGAATTGTGTGAGCTAAGGAATGTAGGAGTAATACTCCACACCAGACCTCTTCCTCCACTCCCCATATCCTGTCAGCGAACCCGATCAGATTTACCTCTATGTCTCCACTTCTTTTATCTCTGTCACTGCTTCCCTAGTGCATAGTGCCACTGTCTCACACTTATATTAATACATTAGCCTCCTAACTGGTCTTTCCTATGTTTCCTCCCTACTTAGACCATTTAAAATTTGACTTAAAAAATAAAATTTACTTGCAACTTTATCCATTAATATATTAGTATTAATTATGTGGGGG... | pathogenic | 96,449 |
Variant at chromosome position 112815497, 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'] | AAGGAATTTATTACGAATTCAGAAATCTCTGTATGAGCCCTTAATTATTGCTTGATTAAAATCCTGACGAATCACTTAGGAATACATTGTTAACAGTTTTCTATGTTGTCTACCAAAGTGGAAGTTATCTGGCAAACAGTTTACGTTGCTAGCTAACAGGGAAGAAAAGTTTCTAATACGTCACCATAGCTGGGCTCATTGGCTCGTGCCTGTAGTCCCGGCTACTCTGGAGGCTGAGGTGAGAGGATCACTTGAGCCAAAGAATTCAGAGCCAGCCTGGGCAACATAGTGAAACCTTGTCTCTAAAAAAAAAAAAAGAA... | AAGGAATTTATTACGAATTCAGAAATCTCTGTATGAGCCCTTAATTATTGCTTGATTAAAATCCTGACGAATCACTTAGGAATACATTGTTAACAGTTTTCTATGTTGTCTACCAAAGTGGAAGTTATCTGGCAAACAGTTTACGTTGCTAGCTAACAGGGAAGAAAAGTTTCTAATACGTCACCATAGCTGGGCTCATTGGCTCGTGCCTGTAGTCCCGGCTACTCTGGAGGCTGAGGTGAGAGGATCACTTGAGCCAAAGAATTCAGAGCCAGCCTGGGCAACATAGTGAAACCTTGTCTCTAAAAAAAAAAAAAGAA... | pathogenic | 96,472 |
Benign or pathogenic: chromosome 5, position 112815509, gene APC (APC regulator of WNT signaling pathway) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | ACGAATTCAGAAATCTCTGTATGAGCCCTTAATTATTGCTTGATTAAAATCCTGACGAATCACTTAGGAATACATTGTTAACAGTTTTCTATGTTGTCTACCAAAGTGGAAGTTATCTGGCAAACAGTTTACGTTGCTAGCTAACAGGGAAGAAAAGTTTCTAATACGTCACCATAGCTGGGCTCATTGGCTCGTGCCTGTAGTCCCGGCTACTCTGGAGGCTGAGGTGAGAGGATCACTTGAGCCAAAGAATTCAGAGCCAGCCTGGGCAACATAGTGAAACCTTGTCTCTAAAAAAAAAAAAAGAAAAAAGAAAAAAA... | ACGAATTCAGAAATCTCTGTATGAGCCCTTAATTATTGCTTGATTAAAATCCTGACGAATCACTTAGGAATACATTGTTAACAGTTTTCTATGTTGTCTACCAAAGTGGAAGTTATCTGGCAAACAGTTTACGTTGCTAGCTAACAGGGAAGAAAAGTTTCTAATACGTCACCATAGCTGGGCTCATTGGCTCGTGCCTGTAGTCCCGGCTACTCTGGAGGCTGAGGTGAGAGGATCACTTGAGCCAAAGAATTCAGAGCCAGCCTGGGCAACATAGTGAAACCTTGTCTCTAAAAAAAAAAAAAGAAAAAAGAAAAAAA... | pathogenic | 96,478 |
A genetic variant on chromosome 5, position 112815531, 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'] | GAGCCCTTAATTATTGCTTGATTAAAATCCTGACGAATCACTTAGGAATACATTGTTAACAGTTTTCTATGTTGTCTACCAAAGTGGAAGTTATCTGGCAAACAGTTTACGTTGCTAGCTAACAGGGAAGAAAAGTTTCTAATACGTCACCATAGCTGGGCTCATTGGCTCGTGCCTGTAGTCCCGGCTACTCTGGAGGCTGAGGTGAGAGGATCACTTGAGCCAAAGAATTCAGAGCCAGCCTGGGCAACATAGTGAAACCTTGTCTCTAAAAAAAAAAAAAGAAAAAAGAAAAAAAAATCACCAAAAGTGAAATTTAT... | GAGCCCTTAATTATTGCTTGATTAAAATCCTGACGAATCACTTAGGAATACATTGTTAACAGTTTTCTATGTTGTCTACCAAAGTGGAAGTTATCTGGCAAACAGTTTACGTTGCTAGCTAACAGGGAAGAAAAGTTTCTAATACGTCACCATAGCTGGGCTCATTGGCTCGTGCCTGTAGTCCCGGCTACTCTGGAGGCTGAGGTGAGAGGATCACTTGAGCCAAAGAATTCAGAGCCAGCCTGGGCAACATAGTGAAACCTTGTCTCTAAAAAAAAAAAAAGAAAAAAGAAAAAAAAATCACCAAAAGTGAAATTTAT... | pathogenic | 96,486 |
Is the chromosome 5, position 112815537 variant in APC (APC regulator of WNT signaling pathway) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTAATTATTGCTTGATTAAAATCCTGACGAATCACTTAGGAATACATTGTTAACAGTTTTCTATGTTGTCTACCAAAGTGGAAGTTATCTGGCAAACAGTTTACGTTGCTAGCTAACAGGGAAGAAAAGTTTCTAATACGTCACCATAGCTGGGCTCATTGGCTCGTGCCTGTAGTCCCGGCTACTCTGGAGGCTGAGGTGAGAGGATCACTTGAGCCAAAGAATTCAGAGCCAGCCTGGGCAACATAGTGAAACCTTGTCTCTAAAAAAAAAAAAAGAAAAAAGAAAAAAAAATCACCAAAAGTGAAATTTATGCACAA... | TTAATTATTGCTTGATTAAAATCCTGACGAATCACTTAGGAATACATTGTTAACAGTTTTCTATGTTGTCTACCAAAGTGGAAGTTATCTGGCAAACAGTTTACGTTGCTAGCTAACAGGGAAGAAAAGTTTCTAATACGTCACCATAGCTGGGCTCATTGGCTCGTGCCTGTAGTCCCGGCTACTCTGGAGGCTGAGGTGAGAGGATCACTTGAGCCAAAGAATTCAGAGCCAGCCTGGGCAACATAGTGAAACCTTGTCTCTAAAAAAAAAAAAAGAAAAAAGAAAAAAAAATCACCAAAAGTGAAATTTATGCACAA... | pathogenic | 96,487 |
The genetic variant at chromosome 5, position 112815553, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAAATCCTGACGAATCACTTAGGAATACATTGTTAACAGTTTTCTATGTTGTCTACCAAAGTGGAAGTTATCTGGCAAACAGTTTACGTTGCTAGCTAACAGGGAAGAAAAGTTTCTAATACGTCACCATAGCTGGGCTCATTGGCTCGTGCCTGTAGTCCCGGCTACTCTGGAGGCTGAGGTGAGAGGATCACTTGAGCCAAAGAATTCAGAGCCAGCCTGGGCAACATAGTGAAACCTTGTCTCTAAAAAAAAAAAAAGAAAAAAGAAAAAAAAATCACCAAAAGTGAAATTTATGCACAAAAGGAAGTTATAAGGT... | TAAAATCCTGACGAATCACTTAGGAATACATTGTTAACAGTTTTCTATGTTGTCTACCAAAGTGGAAGTTATCTGGCAAACAGTTTACGTTGCTAGCTAACAGGGAAGAAAAGTTTCTAATACGTCACCATAGCTGGGCTCATTGGCTCGTGCCTGTAGTCCCGGCTACTCTGGAGGCTGAGGTGAGAGGATCACTTGAGCCAAAGAATTCAGAGCCAGCCTGGGCAACATAGTGAAACCTTGTCTCTAAAAAAAAAAAAAGAAAAAAGAAAAAAAAATCACCAAAAGTGAAATTTATGCACAAAAGGAAGTTATAAGGT... | pathogenic | 96,488 |
Evaluate the clinical significance of the mutation at chromosome 5, position 112815567 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'] | ATCACTTAGGAATACATTGTTAACAGTTTTCTATGTTGTCTACCAAAGTGGAAGTTATCTGGCAAACAGTTTACGTTGCTAGCTAACAGGGAAGAAAAGTTTCTAATACGTCACCATAGCTGGGCTCATTGGCTCGTGCCTGTAGTCCCGGCTACTCTGGAGGCTGAGGTGAGAGGATCACTTGAGCCAAAGAATTCAGAGCCAGCCTGGGCAACATAGTGAAACCTTGTCTCTAAAAAAAAAAAAAGAAAAAAGAAAAAAAAATCACCAAAAGTGAAATTTATGCACAAAAGGAAGTTATAAGGTGTGTTGGTTCCAGA... | ATCACTTAGGAATACATTGTTAACAGTTTTCTATGTTGTCTACCAAAGTGGAAGTTATCTGGCAAACAGTTTACGTTGCTAGCTAACAGGGAAGAAAAGTTTCTAATACGTCACCATAGCTGGGCTCATTGGCTCGTGCCTGTAGTCCCGGCTACTCTGGAGGCTGAGGTGAGAGGATCACTTGAGCCAAAGAATTCAGAGCCAGCCTGGGCAACATAGTGAAACCTTGTCTCTAAAAAAAAAAAAAGAAAAAAGAAAAAAAAATCACCAAAAGTGAAATTTATGCACAAAAGGAAGTTATAAGGTGTGTTGGTTCCAGA... | pathogenic | 96,496 |
A genetic variant at chromosome 5, position 112815591, 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'] | AGTTTTCTATGTTGTCTACCAAAGTGGAAGTTATCTGGCAAACAGTTTACGTTGCTAGCTAACAGGGAAGAAAAGTTTCTAATACGTCACCATAGCTGGGCTCATTGGCTCGTGCCTGTAGTCCCGGCTACTCTGGAGGCTGAGGTGAGAGGATCACTTGAGCCAAAGAATTCAGAGCCAGCCTGGGCAACATAGTGAAACCTTGTCTCTAAAAAAAAAAAAAGAAAAAAGAAAAAAAAATCACCAAAAGTGAAATTTATGCACAAAAGGAAGTTATAAGGTGTGTTGGTTCCAGAATTCTCCCCTTGTACCCTCTAGAG... | AGTTTTCTATGTTGTCTACCAAAGTGGAAGTTATCTGGCAAACAGTTTACGTTGCTAGCTAACAGGGAAGAAAAGTTTCTAATACGTCACCATAGCTGGGCTCATTGGCTCGTGCCTGTAGTCCCGGCTACTCTGGAGGCTGAGGTGAGAGGATCACTTGAGCCAAAGAATTCAGAGCCAGCCTGGGCAACATAGTGAAACCTTGTCTCTAAAAAAAAAAAAAGAAAAAAGAAAAAAAAATCACCAAAAGTGAAATTTATGCACAAAAGGAAGTTATAAGGTGTGTTGGTTCCAGAATTCTCCCCTTGTACCCTCTAGAG... | pathogenic | 96,504 |
Assess the variant on chromosome 5, position 112818946, impacting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TTGCTCTGTTGCCCAGGCTGTAGTGCAGTGGCACGATCTTGGCTCACTGCAACCCCCACCTCCAGGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTA... | TTGCTCTGTTGCCCAGGCTGTAGTGCAGTGGCACGATCTTGGCTCACTGCAACCCCCACCTCCAGGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTA... | benign | 96,520 |
Clinical classification of chromosome 5, position 112818966, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Classic_or_attenuated_familial_adenomatous_polyposis', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | TAGTGCAGTGGCACGATCTTGGCTCACTGCAACCCCCACCTCCAGGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGAT... | TAGTGCAGTGGCACGATCTTGGCTCACTGCAACCCCCACCTCCAGGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGAT... | pathogenic | 96,527 |
The chromosome 5, position 112818968 genetic variant in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGCAGTGGCACGATCTTGGCTCACTGCAACCCCCACCTCCAGGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTA... | GTGCAGTGGCACGATCTTGGCTCACTGCAACCCCCACCTCCAGGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTA... | pathogenic | 96,528 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 112818986, gene APC (APC regulator of WNT signaling pathway): what disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GGCTCACTGCAACCCCCACCTCCAGGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATT... | GGCTCACTGCAACCCCCACCTCCAGGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATT... | pathogenic | 96,536 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 112819020, gene APC (APC regulator of WNT signaling pathway): what disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | GATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTA... | GATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTA... | pathogenic | 96,541 |
Is the genetic variant on chromosome 5, position 112819073, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTT... | TGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTT... | pathogenic | 96,556 |
Evaluate the clinical significance of the mutation at chromosome 5, position 112819124 in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['APC-related_disorder', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTT... | GCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTT... | pathogenic | 96,572 |
Evaluate if the mutation on chromosome 5 at position 112819129 in APC (APC regulator of WNT signaling pathway) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCC... | GCTGGTCTCGAACTCCTGATCTCAGGTGATGCGCTCATCTCTGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGTGACCACACCCGGCCCATCAGAGATTTTAATATTCACTAAGATGAAATGAAATTCTAATATTACTAAACGATGTATTTTCGATTAACTCGAATTCCATTAATTGTTTTCACAGCATACTCTGTATACTCTTTCTTTACTGTAAATAATATAATAGCTCTTGGGAAAGGTATTACTGAAATAACTAATGTTGATTTAAGTAATGATTTTAGAATAATCAATGATATTCTCACTATGAGGCTTAATCC... | pathogenic | 96,573 |
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