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 |
|---|---|---|---|---|---|
The mutation impacting APC (APC regulator of WNT signaling pathway) on chromosome 5 at position 112838660: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAAT... | TGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAAT... | pathogenic | 97,389 |
Clinical significance of chromosome 5, position 112838681, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1'] | TTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTC... | TTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTC... | pathogenic | 97,397 |
For chromosome 5, position 112838715, 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'] | ATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGC... | ATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGC... | pathogenic | 97,406 |
Located at chromosome 5 position 112838742, the variant affecting gene APC (APC regulator of WNT signaling pathway)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['APC-related_disorder', 'Colorectal_cancer', 'Desmoid_disease,_hereditary', 'Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach', 'Gastric_cancer', 'Hepatocellular_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | CAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTA... | CAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTA... | pathogenic | 97,413 |
Determine if the mutation at chromosome 5, position 112838752 in gene APC (APC regulator of WNT signaling pathway) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGG... | TTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGG... | pathogenic | 97,417 |
Is chromosome 5, position 112838756, 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'] | TTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGT... | TTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGT... | pathogenic | 97,420 |
Located at chromosome 5 position 112838756, 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'] | TTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGT... | TTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGT... | pathogenic | 97,421 |
For chromosome 5, position 112838758, 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'] | TTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTAT... | TTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTAT... | pathogenic | 97,422 |
Classify the chromosome 5 variant at position 112838766 affecting gene APC (APC regulator of WNT signaling pathway) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAAT... | TTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAAT... | pathogenic | 97,424 |
Evaluate the clinical significance of the mutation at chromosome 5, position 112838773 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', 'Hereditary_cancer-predisposing_syndrome'] | GAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCA... | GAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCA... | pathogenic | 97,426 |
For chromosome 5, position 112838773, 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'] | GAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCA... | GAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCA... | pathogenic | 97,427 |
Variant at chromosome position 112838773, chromosome 5, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Carcinoma_of_colon', 'Classic_or_attenuated_familial_adenomatous_polyposis', 'Craniopharyngioma', 'Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCA... | GAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCA... | pathogenic | 97,428 |
Is the genetic variant on chromosome 5, position 112838774, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAG... | AGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAG... | pathogenic | 97,429 |
Does the variant on chromosome 5 at location 112838776 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'] | ATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAG... | ATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAG... | pathogenic | 97,430 |
Is the chromosome 5, position 112838778 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'] | GGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGAT... | GGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGAT... | pathogenic | 97,433 |
Is chromosome 5, position 112838780, gene APC (APC regulator of WNT signaling pathway) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Classic_or_attenuated_familial_adenomatous_polyposis', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATAC... | AGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATAC... | pathogenic | 97,434 |
The genetic variant at chromosome 5, position 112838787, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATT... | CTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATT... | pathogenic | 97,436 |
Clinical classification of chromosome 5, position 112838790, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACT... | TGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACT... | pathogenic | 97,438 |
The genetic variant at chromosome 5, position 112838792, 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', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCT... | TTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCT... | pathogenic | 97,439 |
Does the variant on chromosome 5 at location 112838801 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'] | TTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAA... | TTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAA... | pathogenic | 97,446 |
Variant chromosome 5, position 112838805, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | AGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGT... | AGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGT... | pathogenic | 97,448 |
Determine if the mutation at chromosome 5, position 112838817 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'] | TGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGA... | TGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGA... | pathogenic | 97,450 |
Is the genetic variant on chromosome 5, position 112838817, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGA... | TGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGA... | pathogenic | 97,451 |
Regarding the variant found on chromosome 5 at position 112838831 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'] | TGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCA... | TGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCA... | pathogenic | 97,455 |
Evaluate the clinical significance of the mutation at chromosome 5, position 112838845 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'] | CCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAA... | CCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAA... | pathogenic | 97,460 |
The chromosome 5, position 112838846 genetic variant in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAA... | CCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAA... | pathogenic | 97,461 |
The genetic variant at chromosome 5, position 112838851, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTC... | TGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTC... | pathogenic | 97,462 |
Is the genetic change at chromosome 5, position 112838852, within 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'] | GATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCA... | GATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCA... | pathogenic | 97,464 |
Regarding the variant at chromosome 5 and position 112838857, 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'] | TCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAA... | TCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAA... | pathogenic | 97,465 |
Chromosome 5, position 112838885, gene APC (APC regulator of WNT signaling pathway): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCA... | ACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCA... | pathogenic | 97,477 |
Evaluate if the mutation on chromosome 5 at position 112838889 in APC (APC regulator of WNT signaling pathway) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATAT... | CAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATAT... | pathogenic | 97,478 |
Regarding the variant at chromosome 5 and position 112838897, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCA... | CACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCA... | pathogenic | 97,480 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 112838907, gene APC (APC regulator of WNT signaling pathway): what disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACC... | CCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACC... | pathogenic | 97,486 |
Regarding the variant found on chromosome 5 at position 112838907 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'] | CCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACC... | CCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACC... | pathogenic | 97,487 |
Classify the chromosome 5 variant at position 112838920 affecting gene APC (APC regulator of WNT signaling pathway) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTA... | TGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTA... | pathogenic | 97,488 |
Variant chromosome 5, position 112838928, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCA... | TAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCA... | pathogenic | 97,491 |
Located at chromosome 5 position 112838936, 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'] | ACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTC... | ACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTC... | pathogenic | 97,496 |
Is the genetic change at chromosome 5, position 112838941, within gene APC (APC regulator of WNT signaling pathway) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1'] | GTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATT... | GTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATT... | pathogenic | 97,499 |
A genetic variant at chromosome 5, position 112838957, 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'] | CAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCAT... | CAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCAT... | pathogenic | 97,503 |
The genetic variant at chromosome 5, position 112838977, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGG... | AATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGG... | pathogenic | 97,510 |
Considering the genetic mutation at chromosome 5, position 112838979, impacting APC (APC regulator of WNT signaling pathway): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAA... | TCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAA... | pathogenic | 97,511 |
Is the genetic change at chromosome 5, position 112838996, within 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'] | GCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGA... | GCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGA... | pathogenic | 97,518 |
Variant at chromosome 5, position 112839033, gene APC (APC regulator of WNT signaling pathway): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAA... | GCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAA... | pathogenic | 97,524 |
For chromosome 5, position 112839034, 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'] | CCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAG... | CCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAG... | pathogenic | 97,525 |
Regarding the variant found on chromosome 5 at position 112839048 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'] | CAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAA... | CAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAA... | pathogenic | 97,529 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 112839053, gene APC (APC regulator of WNT signaling pathway). What disease(s) is it linked to if pathogenic? | benign | GCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGA... | GCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGA... | benign | 97,532 |
Is chromosome 5, position 112839055, 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', 'Hereditary_cancer-predisposing_syndrome'] | ACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAA... | ACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAA... | pathogenic | 97,534 |
Is chromosome 5, position 112839058, 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', 'Hereditary_cancer-predisposing_syndrome'] | CGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGT... | CGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGT... | pathogenic | 97,535 |
Considering the variant on chromosome 5, location 112839060, 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; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAG... | TAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAG... | pathogenic | 97,537 |
Chromosome 5, position 112839061, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGA... | AAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGA... | pathogenic | 97,538 |
Is the chromosome 5, position 112839061 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'] | AAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGA... | AAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGA... | pathogenic | 97,539 |
Determine if the mutation at chromosome 5, position 112839061 in gene APC (APC regulator of WNT signaling pathway) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGA... | AAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGA... | pathogenic | 97,540 |
Is the chromosome 5, position 112839077 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'] | TCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAAC... | TCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAAC... | pathogenic | 97,544 |
Benign or pathogenic: chromosome 5, position 112839078, gene APC (APC regulator of WNT signaling pathway) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACA... | CACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACA... | pathogenic | 97,545 |
The genetic variant at chromosome 5, position 112839087, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | AAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTT... | AAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTT... | pathogenic | 97,547 |
Chromosome 5, position 112839095, gene APC (APC regulator of WNT signaling pathway): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGT... | GATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGT... | pathogenic | 97,550 |
The chromosome 5, position 112839119 genetic variant in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Colorectal_cancer', 'Desmoid_disease,_hereditary', 'Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach', 'Gastric_cancer', 'Hepatocellular_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | AAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACA... | AAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACA... | pathogenic | 97,559 |
Mutation at chromosome 5, position 112839122, within APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTA... | TGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTA... | pathogenic | 97,560 |
Does the variant on chromosome 5 at location 112839135 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'] | GAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAA... | GAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAA... | pathogenic | 97,564 |
Is the genetic variant on chromosome 5, position 112839149, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGG... | CACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGG... | pathogenic | 97,571 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 112839155, gene APC (APC regulator of WNT signaling pathway). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGT... | CTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGT... | pathogenic | 97,572 |
Mutation at chromosome 5, position 112839169, within APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['APC-related_disorder', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAAT... | TCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAAT... | pathogenic | 97,579 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 112839176, 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'] | ATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGG... | ATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGG... | pathogenic | 97,583 |
Clinical significance of chromosome 5, position 112839182, 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'] | TCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATT... | TCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATT... | pathogenic | 97,585 |
For chromosome 5, position 112839187, 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'] | CTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTAC... | CTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTAC... | pathogenic | 97,587 |
Classify the chromosome 5 variant at position 112839187 affecting gene APC (APC regulator of WNT signaling pathway) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTAC... | CTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTAC... | pathogenic | 97,589 |
Variant on chromosome 5, at position 112839195, 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'] | AGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATAT... | AGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATAT... | pathogenic | 97,593 |
A genetic alteration at chromosome 5, position 112839209, in gene APC (APC regulator of WNT signaling pathway)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCT... | CAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCT... | pathogenic | 97,601 |
Is the genetic change at chromosome 5, position 112839211, within gene APC (APC regulator of WNT signaling pathway) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTC... | ATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTC... | pathogenic | 97,603 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome 5, position 112839222—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTAT... | GCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTAT... | pathogenic | 97,607 |
Is the chromosome 5, position 112839235 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'] | GATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGC... | GATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGC... | pathogenic | 97,611 |
Variant in APC (APC regulator of WNT signaling pathway), chromosome 5, position 112839239—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATAC... | AAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATAC... | pathogenic | 97,613 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 112839246, gene APC (APC regulator of WNT signaling pathway): what disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGT... | CACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGT... | pathogenic | 97,614 |
The chromosome 5, position 112839263 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'] | ACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGAT... | ACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGAT... | pathogenic | 97,622 |
Considering the genetic mutation at chromosome 5, position 112839281, impacting APC (APC regulator of WNT signaling pathway): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAG... | TAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAG... | pathogenic | 97,627 |
Regarding the variant found on chromosome 5 at position 112839300 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'] | CTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAAC... | CTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAAC... | pathogenic | 97,633 |
Variant in APC (APC regulator of WNT signaling pathway), chromosome 5, position 112839308—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCT... | TGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCT... | pathogenic | 97,637 |
Regarding the variant found on chromosome 5 at position 112839324 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'] | ATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAA... | ATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAA... | pathogenic | 97,642 |
The mutation in gene APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112839349—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAA... | TTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAA... | pathogenic | 97,649 |
The mutation impacting APC (APC regulator of WNT signaling pathway) on chromosome 5 at position 112839360: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAAT... | GGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAAT... | pathogenic | 97,653 |
Regarding the variant at chromosome 5 and position 112839376, 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'] | GTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGT... | GTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGT... | pathogenic | 97,660 |
Regarding the variant found on chromosome 5 at position 112839376 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', 'Familial_multiple_polyposis_syndrome'] | GTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGT... | GTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGT... | pathogenic | 97,661 |
Is the genetic mutation found on chromosome 5 at position 112839378, 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'] | AGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGG... | AGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGG... | pathogenic | 97,662 |
Mutation at chromosome 5, position 112839379, within APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | GAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGA... | GAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGA... | pathogenic | 97,663 |
For chromosome 5, position 112839387, 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'] | AAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCA... | AAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCA... | pathogenic | 97,667 |
Clinical classification of chromosome 5, position 112839395, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome'] | ACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAA... | ACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAA... | pathogenic | 97,671 |
Is the genetic mutation found on chromosome 5 at position 112839398, 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'] | CCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCC... | CCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCC... | pathogenic | 97,673 |
The chromosome 5, position 112839403 genetic variant in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Classic_or_attenuated_familial_adenomatous_polyposis', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAG... | ACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAG... | pathogenic | 97,674 |
A genetic variant on chromosome 5, position 112839430, 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'] | TTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGG... | TTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGG... | pathogenic | 97,684 |
A genetic alteration at chromosome 5, position 112839465, in gene APC (APC regulator of WNT signaling pathway)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Classic_or_attenuated_familial_adenomatous_polyposis', 'Familial_adenomatous_polyposis_1'] | AAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAG... | AAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAG... | pathogenic | 97,695 |
Variant at chromosome position 112839469, 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', 'Familial_multiple_polyposis_syndrome'] | AGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACA... | AGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACA... | pathogenic | 97,697 |
Regarding the variant at chromosome 5 and position 112839474, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATG... | TGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATG... | pathogenic | 97,700 |
Considering the variant on chromosome 5, location 112839484, involving gene APC (APC regulator of WNT signaling pathway), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGG... | GGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGG... | pathogenic | 97,701 |
The chromosome 5, position 112839494 genetic variant in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Carcinoma_of_colon', 'Colorectal_cancer', 'Desmoid_disease,_hereditary', 'Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach', 'Gastric_cancer', 'Hepatocellular_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | GGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGC... | GGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGC... | pathogenic | 97,704 |
Is the variant located on chromosome 5 at position 112839495, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_adenomatous_polyposis_1'] | GATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCA... | GATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCA... | pathogenic | 97,705 |
Regarding the variant at chromosome 5 and position 112839510, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTC... | CATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTC... | pathogenic | 97,710 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome 5, position 112839514—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGG... | TTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGG... | pathogenic | 97,711 |
Evaluate the clinical significance of the mutation at chromosome 5, position 112839514 in gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['APC-related_disorder', 'Adenomatous_colonic_polyposis', 'Adenomatous_polyposis_coli_with_congenital_cholesteatoma', 'Carcinoma_of_colon', 'Classic_or_attenuated_familial_adenomatous_polyposis', 'Colon_adenocarcinoma', 'Colorectal_cancer', 'Desmoid_disease,_hereditary', 'Duodenal_polyposis', 'Familial_aden... | TTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGG... | TTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGG... | pathogenic | 97,712 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome 5, position 112839515—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Classic_or_attenuated_familial_adenomatous_polyposis', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGC... | TATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGC... | pathogenic | 97,713 |
For chromosome 5, position 112839527, 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'] | CTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGC... | CTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGC... | pathogenic | 97,717 |
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