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 |
|---|---|---|---|---|---|
Regarding the variant found on chromosome 5 at position 112835173 in gene APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCCCTCAAAG... | CGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCCCTCAAAG... | benign | 96,989 |
Does the chromosome 5 mutation at position 112835184 within gene APC (APC regulator of WNT signaling pathway) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCCCTCAAAGTGCTGGGATTA... | CTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCCCTCAAAGTGCTGGGATTA... | benign | 96,992 |
Considering the genetic mutation at chromosome 5, position 112835188, impacting APC (APC regulator of WNT signaling pathway): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCCCTCAAAGTGCTGGGATTACAGG... | AGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCCCTCAAAGTGCTGGGATTACAGG... | benign | 96,993 |
The mutation in gene APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112837537—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GAACAAGACAAAAACTATGAGCGTGATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCA... | GAACAAGACAAAAACTATGAGCGTGATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCA... | benign | 96,997 |
Classify the chromosome 5 variant at position 112837544 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'] | ACAAAAACTATGAGCGTGATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCC... | ACAAAAACTATGAGCGTGATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCC... | pathogenic | 97,001 |
Does the chromosome 5 mutation at position 112837561 within gene APC (APC regulator of WNT signaling pathway) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCC... | GATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCC... | pathogenic | 97,010 |
Variant at chromosome 5, position 112837562, gene APC (APC regulator of WNT signaling pathway): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCT... | ATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCT... | pathogenic | 97,011 |
The mutation in gene APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112837562—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCT... | ATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCT... | pathogenic | 97,012 |
Variant chromosome 5, position 112837570, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | AATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTG... | AATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTG... | pathogenic | 97,015 |
Is the variant located on chromosome 5 at position 112837571, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGG... | ATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGG... | pathogenic | 97,016 |
Clinical classification of chromosome 5, position 112837585, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1'] | ATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGA... | ATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGA... | pathogenic | 97,021 |
Evaluate this variant at chromosome 5, position 112837597, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCC... | ATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCC... | pathogenic | 97,027 |
Variant in gene APC (APC regulator of WNT signaling pathway), located at chromosome 5 position 112837600: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Classic_or_attenuated_familial_adenomatous_polyposis', 'Familial_adenomatous_polyposis_1'] | TCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGC... | TCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGC... | pathogenic | 97,030 |
Is the genetic change at chromosome 5, position 112837600, 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'] | TCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGC... | TCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGC... | pathogenic | 97,031 |
A genetic variant on chromosome 5, position 112837602, 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'] | TTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCA... | TTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCA... | pathogenic | 97,032 |
Mutation found at chromosome 5 position 112837604, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | AGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAAT... | AGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAAT... | pathogenic | 97,033 |
Mutation found at chromosome 5 position 112837608, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATC... | TCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATC... | pathogenic | 97,035 |
Gene mutation in APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112837621—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTA... | TTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTA... | pathogenic | 97,037 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome 5, position 112837642—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | ACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAAT... | ACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAAT... | pathogenic | 97,043 |
Evaluate this variant at chromosome 5, position 112837644, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome'] | AGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCT... | AGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCT... | pathogenic | 97,045 |
A genetic variant on chromosome 5, position 112837649, 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'] | CTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAG... | CTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAG... | pathogenic | 97,048 |
Mutation found at chromosome 5 position 112837675, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | CAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTC... | CAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTC... | pathogenic | 97,051 |
The genetic variant at chromosome 5, position 112837693, 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'] | TCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATT... | TCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATT... | pathogenic | 97,059 |
Considering the variant on chromosome 5, location 112837696, 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'] | CTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTC... | CTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTC... | pathogenic | 97,061 |
Does the chromosome 5 mutation at position 112837752 within gene APC (APC regulator of WNT signaling pathway) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome'] | CTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTT... | CTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTT... | pathogenic | 97,071 |
Does the variant on chromosome 5 at location 112837779 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'] | CCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCT... | CCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCT... | pathogenic | 97,077 |
Mutation at chromosome 5, position 112837786, within APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | AATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTC... | AATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTC... | pathogenic | 97,079 |
Assess the variant on chromosome 5, position 112837848, impacting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTC... | TGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTC... | pathogenic | 97,093 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome 5, position 112837851—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAG... | CCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAG... | pathogenic | 97,094 |
Variant on chromosome 5, at position 112837897, affecting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCC... | AGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCC... | pathogenic | 97,110 |
For chromosome 5, position 112837900, 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'] | TGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCC... | TGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCC... | pathogenic | 97,112 |
Considering the variant on chromosome 5, location 112837900, 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'] | TGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCC... | TGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCC... | pathogenic | 97,113 |
Does the genetic variant at chromosome 5, position 112837905, impacting gene APC (APC regulator of WNT signaling pathway), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | GCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCC... | GCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCC... | pathogenic | 97,118 |
Assess the variant on chromosome 5, position 112837909, impacting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCG... | CCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCG... | pathogenic | 97,119 |
Regarding the variant found on chromosome 5 at position 112837926 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'] | TCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAA... | TCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAA... | pathogenic | 97,124 |
Mutation at chromosome 5, position 112837927, 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'] | CATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAAT... | CATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAAT... | pathogenic | 97,125 |
For chromosome 5, position 112837927, 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'] | CATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAAT... | CATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAAT... | pathogenic | 97,126 |
Evaluate if the mutation on chromosome 5 at position 112837963 in APC (APC regulator of WNT signaling pathway) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Classic_or_attenuated_familial_adenomatous_polyposis', 'Hereditary_cancer-predisposing_syndrome'] | TGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGT... | TGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGT... | pathogenic | 97,133 |
Determine if the mutation at chromosome 5, position 112837975 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', 'Familial_multiple_polyposis_syndrome'] | AAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGG... | AAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGG... | pathogenic | 97,138 |
Assess the variant on chromosome 5, position 112837979, impacting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTT... | CCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTT... | pathogenic | 97,140 |
Does the variant on chromosome 5 at location 112837987 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'] | AGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCT... | AGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCT... | pathogenic | 97,144 |
Mutation found at chromosome 5 position 112837987, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCT... | AGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCT... | pathogenic | 97,145 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome 5, position 112837988—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | GTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTG... | GTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTG... | pathogenic | 97,146 |
Determine if the mutation at chromosome 5, position 112838025 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'] | ATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTG... | ATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTG... | pathogenic | 97,155 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 112838041, gene APC (APC regulator of WNT signaling pathway): what disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCAT... | ACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCAT... | pathogenic | 97,160 |
Clinical classification of chromosome 5, position 112838060, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCA... | TTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCA... | pathogenic | 97,165 |
A genetic variant on chromosome 5, position 112838076, affects the gene APC (APC regulator of WNT signaling pathway). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTT... | TTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTT... | pathogenic | 97,176 |
Benign or pathogenic: chromosome 5, position 112838078, gene APC (APC regulator of WNT signaling pathway) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTT... | TTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTT... | pathogenic | 97,178 |
Is the variant located on chromosome 5 at position 112838078, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTT... | TTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTT... | pathogenic | 97,179 |
Does the genetic variant at chromosome 5, position 112838086, impacting gene APC (APC regulator of WNT signaling pathway), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTA... | TGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTA... | pathogenic | 97,182 |
Mutation found at chromosome 5 position 112838107, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGAT... | TGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGAT... | pathogenic | 97,190 |
Assess the variant on chromosome 5, position 112838119, impacting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACA... | AGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACA... | pathogenic | 97,194 |
Does the chromosome 5 mutation at position 112838128 within gene APC (APC regulator of WNT signaling pathway) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_adenomatous_polyposis_1'] | GCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTC... | GCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTC... | pathogenic | 97,195 |
The mutation impacting APC (APC regulator of WNT signaling pathway) on chromosome 5 at position 112838133: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCT... | ATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCT... | pathogenic | 97,198 |
A genetic variant on chromosome 5, position 112838137, 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; ['APC-related_disorder', 'Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | TTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCT... | TTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCT... | pathogenic | 97,200 |
Clinical significance of chromosome 5, position 112838139, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Classic_or_attenuated_familial_adenomatous_polyposis', 'Familial_adenomatous_polyposis_1'] | GCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGC... | GCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGC... | pathogenic | 97,202 |
Is the variant located on chromosome 5 at position 112838150, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAA... | CCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAA... | pathogenic | 97,208 |
Is the genetic variant on chromosome 5, position 112838160, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAA... | TGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAA... | pathogenic | 97,213 |
Mutation at chromosome 5, position 112838162, within APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGT... | GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGT... | pathogenic | 97,216 |
Variant on chromosome 5, at position 112838175, 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'] | TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTG... | TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTG... | pathogenic | 97,221 |
Located at chromosome 5 position 112838181, 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'] | GCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGC... | GCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGC... | pathogenic | 97,226 |
Variant in gene APC (APC regulator of WNT signaling pathway), located at chromosome 5 position 112838182: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCT... | CCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCT... | pathogenic | 97,227 |
Assess the variant on chromosome 5, position 112838212, impacting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTA... | GTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTA... | pathogenic | 97,233 |
Classify the chromosome 5 variant at position 112838245 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'] | ATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTA... | ATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTA... | pathogenic | 97,248 |
Variant in gene APC (APC regulator of WNT signaling pathway), located at chromosome 5 position 112838258: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGC... | TAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGC... | pathogenic | 97,256 |
For chromosome 5, position 112838273, 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'] | TTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCA... | TTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCA... | pathogenic | 97,262 |
Classify the chromosome 5 variant at position 112838275 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'] | CACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGT... | CACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGT... | pathogenic | 97,263 |
Clinically, how would you classify the variant at chromosome 5, position 112838277, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTT... | CCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTT... | pathogenic | 97,264 |
Variant at chromosome position 112838290, 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'] | GCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAAC... | GCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAAC... | pathogenic | 97,268 |
Variant in APC (APC regulator of WNT signaling pathway), chromosome 5, position 112838303—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCT... | TCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCT... | pathogenic | 97,272 |
The mutation in gene APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112838329—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGA... | TCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGA... | pathogenic | 97,279 |
Considering the variant on chromosome 5, location 112838350, 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'] | ATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATA... | ATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATA... | pathogenic | 97,285 |
Considering the variant on chromosome 5, location 112838354, 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'] | TAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCC... | TAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCC... | pathogenic | 97,287 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 112838358, gene APC (APC regulator of WNT signaling pathway). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAA... | CATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAA... | pathogenic | 97,290 |
Chromosome 5, position 112838368, 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'] | TGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAA... | TGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAA... | pathogenic | 97,291 |
Evaluate this variant at chromosome 5, position 112838384, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTG... | TATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTG... | pathogenic | 97,296 |
Regarding the variant at chromosome 5 and position 112838384, 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'] | TATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTG... | TATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTG... | pathogenic | 97,297 |
A genetic variant on chromosome 5, position 112838393, 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; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAA... | TTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAA... | pathogenic | 97,300 |
Does the variant impacting APC (APC regulator of WNT signaling pathway) on chromosome 5, position 112838397, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAAT... | TATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAAT... | pathogenic | 97,302 |
Clinical significance of chromosome 5, position 112838398, 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'] | ATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATA... | ATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATA... | pathogenic | 97,303 |
Mutation at chromosome 5, position 112838399, 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'] | TAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAA... | TAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAA... | pathogenic | 97,307 |
Classify the chromosome 5 variant at position 112838436 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'] | ACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTC... | ACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTC... | pathogenic | 97,320 |
Considering the variant on chromosome 5, location 112838437, 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'] | CAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCT... | CAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCT... | pathogenic | 97,321 |
Located at chromosome 5 position 112838437, 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'] | CAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCT... | CAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCT... | pathogenic | 97,322 |
Mutation found at chromosome 5 position 112838450, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTT... | CCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTT... | pathogenic | 97,326 |
Regarding the variant found on chromosome 5 at position 112838456 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'] | TGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAG... | TGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAG... | pathogenic | 97,331 |
Variant on chromosome 5, at position 112838470, affecting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTC... | GATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTC... | pathogenic | 97,336 |
Considering the genetic mutation at chromosome 5, position 112838477, 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'] | TAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTC... | TAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTC... | pathogenic | 97,339 |
Is the genetic mutation found on chromosome 5 at position 112838479, 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'] | AGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCA... | AGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCA... | pathogenic | 97,340 |
Chromosome 5, position 112838484, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTG... | AGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTG... | pathogenic | 97,342 |
For chromosome 5, position 112838485, 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'] | GTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGG... | GTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGG... | pathogenic | 97,343 |
Is the chromosome 5, position 112838499 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'] | GCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTG... | GCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTG... | pathogenic | 97,350 |
A genetic variant on chromosome 5, position 112838499, 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'] | GCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTG... | GCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTG... | pathogenic | 97,351 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 112838505, gene APC (APC regulator of WNT signaling pathway): what disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | AGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCG... | AGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCG... | pathogenic | 97,352 |
Is the genetic mutation found on chromosome 5 at position 112838516, 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'] | ATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAA... | ATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAA... | pathogenic | 97,356 |
Evaluate if the mutation on chromosome 5 at position 112838519 in APC (APC regulator of WNT signaling pathway) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCT... | TTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCT... | pathogenic | 97,357 |
Mutation found at chromosome 5 position 112838531, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAG... | ATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAG... | pathogenic | 97,361 |
Regarding the variant found on chromosome 5 at position 112838537 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'] | CCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTC... | CCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTC... | pathogenic | 97,362 |
Variant in gene APC (APC regulator of WNT signaling pathway), located at chromosome 5 position 112838569: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTA... | TGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTA... | pathogenic | 97,369 |
Clinically, how would you classify the variant at chromosome 5, position 112838593, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGC... | GTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGC... | pathogenic | 97,376 |
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