question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 42929917, gene SLC2A1 (solute carrier family 2 member 1): what disease(s) if pathogenic? | pathogenic; ['Encephalopathy_due_to_GLUT1_deficiency', 'GLUT1_deficiency_syndrome_1,_autosomal_recessive'] | AACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCA... | AACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCA... | pathogenic | 7,528 |
A genetic variant at chromosome 1, position 42930634, affecting gene SLC2A1 (solute carrier family 2 member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Childhood_onset_GLUT1_deficiency_syndrome_2', 'Encephalopathy_due_to_GLUT1_deficiency', 'GLUT1_deficiency_syndrome_1,_autosomal_recessive'] | AGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCC... | AGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCC... | pathogenic | 7,541 |
Is chromosome 1, position 42959040, gene SLC2A1 (solute carrier family 2 member 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAG... | GCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAG... | benign | 7,599 |
A genetic variant on chromosome 1, position 43338558, affects the gene MPL (MPL proto-oncogene, thrombopoietin receptor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Congenital_amegakaryocytic_thrombocytopenia_1', 'Essential_thrombocythemia', 'Primary_myelofibrosis', 'Thrombocythemia_2'] | TGGTCTCAAACTCCTGACCTCAGATGATCCACCCAGCTCGGCCTCCCAAAGTGCTGGTATTATAGGTGTGAGCCACTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCA... | TGGTCTCAAACTCCTGACCTCAGATGATCCACCCAGCTCGGCCTCCCAAAGTGCTGGTATTATAGGTGTGAGCCACTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCA... | pathogenic | 7,613 |
Determine whether the variant at chromosome 1, position 43338563, in gene MPL (MPL proto-oncogene, thrombopoietin receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Congenital_amegakaryocytic_thrombocytopenia_1', 'Essential_thrombocythemia', 'Primary_myelofibrosis', 'Thrombocythemia_2', 'likely other unspecified diseases'] | TCAAACTCCTGACCTCAGATGATCCACCCAGCTCGGCCTCCCAAAGTGCTGGTATTATAGGTGTGAGCCACTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACC... | TCAAACTCCTGACCTCAGATGATCCACCCAGCTCGGCCTCCCAAAGTGCTGGTATTATAGGTGTGAGCCACTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACC... | pathogenic | 7,614 |
Variant at chromosome position 43338636, chromosome 1, gene MPL (MPL proto-oncogene, thrombopoietin receptor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Congenital_amegakaryocytic_thrombocytopenia_1', 'Essential_thrombocythemia', 'Primary_myelofibrosis', 'Thrombocythemia_2'] | CACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGG... | CACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGG... | pathogenic | 7,619 |
Does the variant impacting MPL (MPL proto-oncogene, thrombopoietin receptor) on chromosome 1, position 43338638, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Essential_thrombocythemia'] | CCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGC... | CCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGC... | pathogenic | 7,620 |
Is the variant located on chromosome 1 at position 43338704, gene MPL (MPL proto-oncogene, thrombopoietin receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Congenital_amegakaryocytic_thrombocytopenia_1', 'Essential_thrombocythemia', 'MPL-related_disorder', 'Primary_myelofibrosis', 'Thrombocythemia_2', 'likely other unspecified diseases'] | TTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTT... | TTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTT... | pathogenic | 7,625 |
A genetic alteration at chromosome 1, position 43339291, in gene MPL (MPL proto-oncogene, thrombopoietin receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Essential_thrombocythemia'] | CACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGAT... | CACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGAT... | pathogenic | 7,630 |
Does the variant on chromosome 1 at location 43340501 affecting gene MPL (MPL proto-oncogene, thrombopoietin receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Congenital_amegakaryocytic_thrombocytopenia_1', 'Essential_thrombocythemia', 'Primary_myelofibrosis', 'Thrombocythemia_2'] | TAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCC... | TAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCC... | pathogenic | 7,642 |
Regarding the variant found on chromosome 1 at position 43346605 in gene MPL (MPL proto-oncogene, thrombopoietin receptor): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Essential_thrombocythemia'] | CACATCACAGAAAAATATCATGTTTGTTTTTCTGTCTTTCCCACTGAAATTAGAGCTCTTTGAACCTTATTCCTCTATGCACTCATAGGGCCTGGCACAGTACCAATTGGCACATAGTATCAATTATTTGTTGATTAAATGGGTAAACATACCCATTTTAGTGACGGTGAGCCACTTAGGGGTTATAATCAAGAGGGAGACATGATTCAATTGTTCAATAAAGAATTATTGAGAGTGACTTTTTGCAAGGTACTGGGGATAAATAGTGCAACAAATAAAATGGAAAAGGGGCCAGGCTCGGTGGCTCACACCTGTAATCC... | CACATCACAGAAAAATATCATGTTTGTTTTTCTGTCTTTCCCACTGAAATTAGAGCTCTTTGAACCTTATTCCTCTATGCACTCATAGGGCCTGGCACAGTACCAATTGGCACATAGTATCAATTATTTGTTGATTAAATGGGTAAACATACCCATTTTAGTGACGGTGAGCCACTTAGGGGTTATAATCAAGAGGGAGACATGATTCAATTGTTCAATAAAGAATTATTGAGAGTGACTTTTTGCAAGGTACTGGGGATAAATAGTGCAACAAATAAAATGGAAAAGGGGCCAGGCTCGGTGGCTCACACCTGTAATCC... | pathogenic | 7,649 |
A genetic variant at chromosome 1, position 43348848, affecting gene MPL (MPL proto-oncogene, thrombopoietin receptor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Essential_thrombocythemia', 'MPL-related_disorder'] | CCCACCCCAAACTTGCACTGGAGGGAGATCTCCAGTGGGCATCTGGAATTGGAGTGGCAGCACCCATCGTCCTGGGCAGCCCAAGAGACCTGTTATCAACTCCGATACACAGGAGAAGGCCATCAGGACTGGAAGGTATGGTCAAGCAACAAATGCCCACAGACCTCACTACGCAGGGGATCCCTGGGGTTGGCCATGCCTGTTAGCAGGAGTGAAAGTGTCTATGTATCCAGTCTCTGCTAGTATATCTATGTTTATCAGATTCAACTGGTATCTTAGTCTCTCTTGGGCATCTGATATTTCTGGCTACTCCTACTTAA... | CCCACCCCAAACTTGCACTGGAGGGAGATCTCCAGTGGGCATCTGGAATTGGAGTGGCAGCACCCATCGTCCTGGGCAGCCCAAGAGACCTGTTATCAACTCCGATACACAGGAGAAGGCCATCAGGACTGGAAGGTATGGTCAAGCAACAAATGCCCACAGACCTCACTACGCAGGGGATCCCTGGGGTTGGCCATGCCTGTTAGCAGGAGTGAAAGTGTCTATGTATCCAGTCTCTGCTAGTATATCTATGTTTATCAGATTCAACTGGTATCTTAGTCTCTCTTGGGCATCTGATATTTCTGGCTACTCCTACTTAA... | pathogenic | 7,655 |
Determine if the mutation at chromosome 1, position 43352302 in gene MPL (MPL proto-oncogene, thrombopoietin receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Congenital_amegakaryocytic_thrombocytopenia_1', 'Essential_thrombocythemia', 'Primary_myelofibrosis', 'Thrombocythemia_2'] | GTGACTCATTTATGTGGGAAGACGAAGGCTGAGGAGAAATGCCATTGGAGGCTATAAACATGAAGGGTAGAATGCATCCCACCTCCATCCTTCATCTGCTGCTTCTTTAAGACTTAGCTCAGAAGTCATCTCCTCCAGATGGTGTCTTCTGATGGTCCTGGGCTGGTTCAGGTGCCACTCTCATGGGCTACCATCTCCCTCTGAACATACCTCTCTTTGAACTTTTAATCTGCCCATACGTATGAGCAGACTGAAAGGTAGCCTCCATGCAGGTAGCCAGATCCAACAAAAAAGTTGGAGAAGTAGGAGGAGGTGGTCTG... | GTGACTCATTTATGTGGGAAGACGAAGGCTGAGGAGAAATGCCATTGGAGGCTATAAACATGAAGGGTAGAATGCATCCCACCTCCATCCTTCATCTGCTGCTTCTTTAAGACTTAGCTCAGAAGTCATCTCCTCCAGATGGTGTCTTCTGATGGTCCTGGGCTGGTTCAGGTGCCACTCTCATGGGCTACCATCTCCCTCTGAACATACCTCTCTTTGAACTTTTAATCTGCCCATACGTATGAGCAGACTGAAAGGTAGCCTCCATGCAGGTAGCCAGATCCAACAAAAAAGTTGGAGAAGTAGGAGGAGGTGGTCTG... | pathogenic | 7,664 |
Is the chromosome 1, position 43352534 variant in MPL (MPL proto-oncogene, thrombopoietin receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Essential_thrombocythemia'] | CCCATACGTATGAGCAGACTGAAAGGTAGCCTCCATGCAGGTAGCCAGATCCAACAAAAAAGTTGGAGAAGTAGGAGGAGGTGGTCTGCTGAGCCAGGCATACTCAGTTTCTTTTCCCCAATTTACCAGGTAAGTCACACCTTCTCCCCTGGAGAGATATGAGTGAGGTCACTGAAGCGGCCTGAAATGTTCTACTGACGTCCCTCCACATGGAAATATGAAGCTAAAGAATCCAGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCA... | CCCATACGTATGAGCAGACTGAAAGGTAGCCTCCATGCAGGTAGCCAGATCCAACAAAAAAGTTGGAGAAGTAGGAGGAGGTGGTCTGCTGAGCCAGGCATACTCAGTTTCTTTTCCCCAATTTACCAGGTAAGTCACACCTTCTCCCCTGGAGAGATATGAGTGAGGTCACTGAAGCGGCCTGAAATGTTCTACTGACGTCCCTCCACATGGAAATATGAAGCTAAAGAATCCAGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCA... | pathogenic | 7,666 |
Chromosome 1, position 43437253, gene SZT2 (SZT2 subunit of KICSTOR complex): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_18', 'SZT2-related_disorder'] | GCTTCTTCAAGACCTTCATGACAGCCACGTGTGTAACTCTCTTCTGGTGGCCGAGAGTGAAGAAGATCTGTGGCGCAGTGAGACTCCCTTCCACTCCCGTCAGCGGGCACCACTGCCCAGTGATGGTGAGATCCCACCCAGGAGCCTCCCTCACAAGGCAGTGCTGCCGCCCTTTCTTTTACCGAATACTCTGGTGAAAGCTGAGGGCAGAGTCCTCATTACTTGGTCATCAGTGCCAAGTACTAGAGAGAGAGCAAGGAGGATAGGACAGGAAAGGATCACTGGCCTTGGCTGCTGCTGCGAGTTCATCAGTGATTTTC... | GCTTCTTCAAGACCTTCATGACAGCCACGTGTGTAACTCTCTTCTGGTGGCCGAGAGTGAAGAAGATCTGTGGCGCAGTGAGACTCCCTTCCACTCCCGTCAGCGGGCACCACTGCCCAGTGATGGTGAGATCCCACCCAGGAGCCTCCCTCACAAGGCAGTGCTGCCGCCCTTTCTTTTACCGAATACTCTGGTGAAAGCTGAGGGCAGAGTCCTCATTACTTGGTCATCAGTGCCAAGTACTAGAGAGAGAGCAAGGAGGATAGGACAGGAAAGGATCACTGGCCTTGGCTGCTGCTGCGAGTTCATCAGTGATTTTC... | pathogenic | 7,826 |
Variant on chromosome 1, at position 43437462, affecting SZT2 (SZT2 subunit of KICSTOR complex): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | GAGTCCTCATTACTTGGTCATCAGTGCCAAGTACTAGAGAGAGAGCAAGGAGGATAGGACAGGAAAGGATCACTGGCCTTGGCTGCTGCTGCGAGTTCATCAGTGATTTTCATGGAAGTAATTTCAGTAGAGAGATGGGAATAGAAAGCAGATGAAATGAAAAGTGAAAGAGGGTGATAGGTGGGGCAGAGAATAACTACTCTTACAAGTAGCTTGGCAGTGAAGAGACAGAGAAAATAGATACGGCAGTAACTAAAGGAAGATGGGGGCAAGGAAGGAGCTTTAAAATAAAGTAGAGACTTGAGCTTGTTTATATTCTA... | GAGTCCTCATTACTTGGTCATCAGTGCCAAGTACTAGAGAGAGAGCAAGGAGGATAGGACAGGAAAGGATCACTGGCCTTGGCTGCTGCTGCGAGTTCATCAGTGATTTTCATGGAAGTAATTTCAGTAGAGAGATGGGAATAGAAAGCAGATGAAATGAAAAGTGAAAGAGGGTGATAGGTGGGGCAGAGAATAACTACTCTTACAAGTAGCTTGGCAGTGAAGAGACAGAGAAAATAGATACGGCAGTAACTAAAGGAAGATGGGGGCAAGGAAGGAGCTTTAAAATAAAGTAGAGACTTGAGCTTGTTTATATTCTA... | pathogenic | 7,828 |
Variant in gene SZT2 (SZT2 subunit of KICSTOR complex), located at chromosome 1 position 43441356: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_18'] | GTTTTGTCCATTTGCTTGCTCTTAGTGCTCTGTGGCTGTTCTTTCCCCAGCATCCACTCCCACCACAGGGTGGCCTCCCTGACTTGGACATCTACTTGTATAACAAGCCTGGTGGACAGGGCACTGGGGGCAAAGGTACGGTGCAGGGCACGGGCCTGTGGCACCACCAGGTGAGGGAAAGCCTTTTGTCATCCTATTGCTAAGAGGACATTTCCCAGGCTTGCAGCTGAGTGGAGGGTCGTGGGAGGGGTGGTCTGCAAGTCCCAGAGCTGAGCCTTCCTATGGATTTCTACCCAGGGGTTGCCTGCATCACTCTAGCC... | GTTTTGTCCATTTGCTTGCTCTTAGTGCTCTGTGGCTGTTCTTTCCCCAGCATCCACTCCCACCACAGGGTGGCCTCCCTGACTTGGACATCTACTTGTATAACAAGCCTGGTGGACAGGGCACTGGGGGCAAAGGTACGGTGCAGGGCACGGGCCTGTGGCACCACCAGGTGAGGGAAAGCCTTTTGTCATCCTATTGCTAAGAGGACATTTCCCAGGCTTGCAGCTGAGTGGAGGGTCGTGGGAGGGGTGGTCTGCAAGTCCCAGAGCTGAGCCTTCCTATGGATTTCTACCCAGGGGTTGCCTGCATCACTCTAGCC... | pathogenic | 7,870 |
Variant on chromosome 1, at position 43442626, affecting SZT2 (SZT2 subunit of KICSTOR complex): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGTGTACCTTTAGTCCCAGCTCCTCAGGAGGATGAAATGGGAGGATTTTGCTTCAGGCCAAGAGTTCAAGGCTGTAGTACGTTGTGATCATGCCTGTTAATGCACTCCAGCCTGGGCAACACACAAACACTCTGTCTCAAAAAAGCAAAACAAAAACTGCTCTGTC... | GATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGTGTACCTTTAGTCCCAGCTCCTCAGGAGGATGAAATGGGAGGATTTTGCTTCAGGCCAAGAGTTCAAGGCTGTAGTACGTTGTGATCATGCCTGTTAATGCACTCCAGCCTGGGCAACACACAAACACTCTGTCTCAAAAAAGCAAAACAAAAACTGCTCTGTC... | benign | 7,893 |
Assess the variant on chromosome 1, position 43443776, impacting SZT2 (SZT2 subunit of KICSTOR complex): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_18', 'Inborn_genetic_diseases'] | GGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGG... | GGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGG... | pathogenic | 7,910 |
Is the genetic variant on chromosome 1, position 45014981, gene UROD (uroporphyrinogen decarboxylase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic | ATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTT... | ATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTT... | pathogenic | 8,149 |
Gene MUTYH (mutY DNA glycosylase) variant at chromosome position 45329450 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTG... | TGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTG... | benign | 8,192 |
Considering the variant on chromosome 1, location 45330513, involving gene MUTYH (mutY DNA glycosylase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | TTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAG... | TTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAG... | pathogenic | 8,195 |
Benign or pathogenic: chromosome 1, position 45330531, gene MUTYH (mutY DNA glycosylase) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_2'] | TAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAG... | TAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAG... | pathogenic | 8,202 |
Gene MUTYH (mutY DNA glycosylase) variant at chromosome 1, position 45330557—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | AATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGC... | AATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGC... | pathogenic | 8,207 |
A genetic variant at chromosome 1, position 45330563, affecting gene MUTYH (mutY DNA glycosylase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCT... | AGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCT... | benign | 8,210 |
Variant in gene MUTYH (mutY DNA glycosylase), located at chromosome 1 position 45331164: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAA... | ATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAA... | benign | 8,217 |
Is chromosome 1, position 45331175, gene MUTYH (mutY DNA glycosylase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | CCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAA... | CCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAA... | pathogenic | 8,220 |
Is the chromosome 1, position 45331210 variant in MUTYH (mutY DNA glycosylase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_2'] | TTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGG... | TTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGG... | pathogenic | 8,231 |
Evaluate the clinical significance of the mutation at chromosome 1, position 45331218 in gene MUTYH (mutY DNA glycosylase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast_carcinoma', 'Colorectal_polyposis', 'Familial_adenomatous_polyposis_2', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | AGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGA... | AGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGA... | pathogenic | 8,232 |
Determine if the mutation at chromosome 1, position 45331241 in gene MUTYH (mutY DNA glycosylase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | GTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTC... | GTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTC... | pathogenic | 8,240 |
Evaluate the clinical significance of the mutation at chromosome 1, position 45331254 in gene MUTYH (mutY DNA glycosylase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | AGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACT... | AGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACT... | pathogenic | 8,243 |
Variant at chromosome 1, position 45331261, gene MUTYH (mutY DNA glycosylase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_adenomatous_polyposis_2'] | CCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGA... | CCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGA... | pathogenic | 8,245 |
Assess the variant on chromosome 1, position 45331301, impacting MUTYH (mutY DNA glycosylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | ATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATC... | ATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATC... | pathogenic | 8,256 |
Does the variant impacting MUTYH (mutY DNA glycosylase) on chromosome 1, position 45331304, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_adenomatous_polyposis_2'] | AGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTG... | AGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTG... | pathogenic | 8,257 |
A mutation at chromosome position 45331315 on chromosome 1 in gene MUTYH (mutY DNA glycosylase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | AACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATC... | AACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATC... | pathogenic | 8,261 |
Variant on chromosome 1, at position 45331421, affecting MUTYH (mutY DNA glycosylase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_2'] | ACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAG... | ACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAG... | pathogenic | 8,271 |
Variant chromosome 1, position 45331445, gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | TTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGC... | TTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGC... | pathogenic | 8,282 |
Is the chromosome 1, position 45331453 variant in MUTYH (mutY DNA glycosylase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | GCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTG... | GCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTG... | pathogenic | 8,287 |
A genetic alteration at chromosome 1, position 45331464, in gene MUTYH (mutY DNA glycosylase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | ACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCC... | ACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCC... | pathogenic | 8,292 |
The genetic variant at chromosome 1, position 45331473, affecting gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | ACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACC... | ACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACC... | pathogenic | 8,297 |
Is the chromosome 1, position 45331514 variant in MUTYH (mutY DNA glycosylase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_2', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'MUTYH-related_disorder'] | TGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGC... | TGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGC... | pathogenic | 8,311 |
Is the chromosome 1, position 45331518 variant in MUTYH (mutY DNA glycosylase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | GTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCA... | GTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCA... | pathogenic | 8,312 |
Benign or pathogenic: chromosome 1, position 45331543, gene MUTYH (mutY DNA glycosylase) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_2'] | CTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGAC... | CTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGAC... | pathogenic | 8,326 |
Located at chromosome 1 position 45331574, the variant affecting gene MUTYH (mutY DNA glycosylase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCT... | CTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCT... | benign | 8,335 |
For chromosome 1, position 45331617, gene MUTYH (mutY DNA glycosylase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTAC... | CATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTAC... | benign | 8,339 |
Variant at chromosome position 45331644, chromosome 1, gene MUTYH (mutY DNA glycosylase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCC... | AATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCC... | benign | 8,342 |
Does the chromosome 1 mutation at position 45331682 within gene MUTYH (mutY DNA glycosylase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGA... | GTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGA... | benign | 8,352 |
Is chromosome 1, position 45331698, gene MUTYH (mutY DNA glycosylase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | TCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCA... | TCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCA... | pathogenic | 8,357 |
A genetic variant on chromosome 1, position 45331699, affects the gene MUTYH (mutY DNA glycosylase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_2', 'Familial_colorectal_cancer', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'MUTYH-related_disorder', 'likely other unspecified diseases'] | CTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCAC... | CTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCAC... | pathogenic | 8,358 |
Classify the chromosome 1 variant at position 45331745 affecting gene MUTYH (mutY DNA glycosylase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | CACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTT... | CACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTT... | pathogenic | 8,368 |
Variant in gene MUTYH (mutY DNA glycosylase), located at chromosome 1 position 45331745: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | CACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTT... | CACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTT... | pathogenic | 8,369 |
Determine if the mutation at chromosome 1, position 45331745 in gene MUTYH (mutY DNA glycosylase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_2'] | CACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTT... | CACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTT... | pathogenic | 8,370 |
Variant at chromosome 1, position 45331768, gene MUTYH (mutY DNA glycosylase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | CCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGC... | CCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGC... | pathogenic | 8,381 |
Does the variant on chromosome 1 at location 45331804 affecting gene MUTYH (mutY DNA glycosylase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | GCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAA... | GCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAA... | pathogenic | 8,389 |
Regarding the variant found on chromosome 1 at position 45332056 in gene MUTYH (mutY DNA glycosylase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | AGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTC... | AGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTC... | pathogenic | 8,419 |
Assess the variant on chromosome 1, position 45332164, impacting MUTYH (mutY DNA glycosylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | CCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCA... | CCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCA... | pathogenic | 8,441 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 45332239, gene MUTYH (mutY DNA glycosylase): what disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | CCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGA... | CCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGA... | pathogenic | 8,458 |
Variant in MUTYH (mutY DNA glycosylase), chromosome 1, position 45332239—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | CCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGA... | CCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGA... | pathogenic | 8,459 |
Does the variant impacting MUTYH (mutY DNA glycosylase) on chromosome 1, position 45332287, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_adenomatous_polyposis_2'] | AAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACC... | AAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACC... | pathogenic | 8,469 |
Evaluate if the mutation on chromosome 1 at position 45332290 in MUTYH (mutY DNA glycosylase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | AAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAG... | AAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAG... | pathogenic | 8,471 |
Clinical significance of chromosome 1, position 45332454, gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | GTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTG... | GTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTG... | pathogenic | 8,504 |
For chromosome 1, position 45332458, gene MUTYH (mutY DNA glycosylase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | AGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATC... | AGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATC... | pathogenic | 8,507 |
Clinical significance of chromosome 1, position 45332475, gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | GTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTT... | GTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTT... | pathogenic | 8,509 |
Benign or pathogenic: chromosome 1, position 45332504, gene MUTYH (mutY DNA glycosylase) variant? Disease(s) if pathogenic? | benign | CTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAAC... | CTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAAC... | benign | 8,518 |
The mutation in gene MUTYH (mutY DNA glycosylase) at chromosome 1, position 45332672—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | CTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAG... | CTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAG... | pathogenic | 8,550 |
Variant in MUTYH (mutY DNA glycosylase), chromosome 1, position 45332682—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_adenomatous_polyposis_2'] | TGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGC... | TGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGC... | pathogenic | 8,553 |
The genetic variant at chromosome 1, position 45332803, affecting gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | GCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAT... | GCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAT... | pathogenic | 8,577 |
Does the genetic variant at chromosome 1, position 45332830, impacting gene MUTYH (mutY DNA glycosylase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | TCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTT... | TCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTT... | pathogenic | 8,586 |
The mutation in gene MUTYH (mutY DNA glycosylase) at chromosome 1, position 45332886—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Colonic_neoplasm', 'Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | ATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTA... | ATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTA... | pathogenic | 8,592 |
A genetic alteration at chromosome 1, position 45332956, in gene MUTYH (mutY DNA glycosylase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_adenomatous_polyposis_2'] | AACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGC... | AACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGC... | pathogenic | 8,607 |
Determine whether the variant at chromosome 1, position 45333095, in gene MUTYH (mutY DNA glycosylase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | TGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCC... | TGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCC... | pathogenic | 8,618 |
The mutation impacting MUTYH (mutY DNA glycosylase) on chromosome 1 at position 45333097: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_2'] | CACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTG... | CACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTG... | pathogenic | 8,620 |
Clinical classification of chromosome 1, position 45333100, gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | TCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGG... | TCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGG... | pathogenic | 8,621 |
Determine if the mutation at chromosome 1, position 45333110 in gene MUTYH (mutY DNA glycosylase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | GCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTC... | GCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTC... | pathogenic | 8,626 |
Chromosome 1, position 45333115, gene MUTYH (mutY DNA glycosylase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_2'] | AGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAG... | AGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAG... | pathogenic | 8,630 |
Is the genetic variant on chromosome 1, position 45333137, gene MUTYH (mutY DNA glycosylase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_adenomatous_polyposis_2'] | AAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGC... | AAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGC... | pathogenic | 8,632 |
Does the variant impacting MUTYH (mutY DNA glycosylase) on chromosome 1, position 45333152, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_adenomatous_polyposis_2'] | CCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCC... | CCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCC... | pathogenic | 8,635 |
Is the chromosome 1, position 45333156 variant in MUTYH (mutY DNA glycosylase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_2'] | TTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAA... | TTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAA... | pathogenic | 8,637 |
The genetic variant at chromosome 1, position 45333164, affecting gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | GTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGG... | GTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGG... | pathogenic | 8,640 |
Does the genetic variant at chromosome 1, position 45333269, impacting gene MUTYH (mutY DNA glycosylase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCAC... | CTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCAC... | benign | 8,653 |
Does the genetic variant at chromosome 1, position 45333314, impacting gene MUTYH (mutY DNA glycosylase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | GGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTC... | GGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTC... | pathogenic | 8,664 |
A genetic alteration at chromosome 1, position 45333402, in gene MUTYH (mutY DNA glycosylase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCT... | GTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCT... | benign | 8,669 |
Mutation at chromosome 1, position 45333427, within MUTYH (mutY DNA glycosylase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_2'] | CTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCA... | CTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCA... | pathogenic | 8,676 |
Variant chromosome 1, position 45333466, gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | ACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTC... | ACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTC... | pathogenic | 8,691 |
The genetic variant at chromosome 1, position 45333484, affecting gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | AGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTG... | AGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTG... | pathogenic | 8,695 |
A mutation at chromosome position 45333494 on chromosome 1 in gene MUTYH (mutY DNA glycosylase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | CTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCT... | CTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCT... | pathogenic | 8,698 |
Variant at chromosome 1, position 45333560, gene MUTYH (mutY DNA glycosylase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | GCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGC... | GCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGC... | pathogenic | 8,711 |
A genetic variant on chromosome 1, position 45334412, affects the gene MUTYH (mutY DNA glycosylase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | AGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTA... | AGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTA... | pathogenic | 8,724 |
Assess the variant on chromosome 1, position 45334445, impacting MUTYH (mutY DNA glycosylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | TGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATA... | TGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATA... | pathogenic | 8,732 |
Located at chromosome 1 position 45334448, the variant affecting gene MUTYH (mutY DNA glycosylase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGA... | TGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGA... | pathogenic | 8,733 |
Located at chromosome 1 position 45334456, the variant affecting gene MUTYH (mutY DNA glycosylase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_adenomatous_polyposis_2', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | AAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAG... | AAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAG... | pathogenic | 8,734 |
Does the genetic variant at chromosome 1, position 45334458, impacting gene MUTYH (mutY DNA glycosylase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome'] | GGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGAC... | GGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGAC... | pathogenic | 8,735 |
Is the genetic change at chromosome 1, position 45334518, within gene MUTYH (mutY DNA glycosylase) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCG... | CATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCG... | benign | 8,750 |
Variant at chromosome position 45343106, chromosome 1, gene TOE1 (target of EGR1, exonuclease): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Pontocerebellar_hypoplasia_type_7'] | CCTCCTAACCCCCAGGTGGTGTCAGCAAAAGCACAACATCTGGGGAGGAGCTAGTAGTCCAGGTTCCCGTAGTGGATGTGCAAAGCAACAACTTCAAGGAGATGTGGCCATCCCTCCTGCTAGCCATAAAGACAGCTAATTTCGTGGCTGTGGACACGGTGAGAGTTGGGAAACAAGGAGGGCAGGTGGTTGTGAAGGGGCTGGTGCTAGAGGCCTGTCACAACTCTCCCTTTACCTACCCACAGGAGCTGAGTGGGCTTGGGGACAGGAAGAGTTTGCTGAACCAGTAAGTATAAGCCCTTTTCTCTTTAGTGCCAGCC... | CCTCCTAACCCCCAGGTGGTGTCAGCAAAAGCACAACATCTGGGGAGGAGCTAGTAGTCCAGGTTCCCGTAGTGGATGTGCAAAGCAACAACTTCAAGGAGATGTGGCCATCCCTCCTGCTAGCCATAAAGACAGCTAATTTCGTGGCTGTGGACACGGTGAGAGTTGGGAAACAAGGAGGGCAGGTGGTTGTGAAGGGGCTGGTGCTAGAGGCCTGTCACAACTCTCCCTTTACCTACCCACAGGAGCTGAGTGGGCTTGGGGACAGGAAGAGTTTGCTGAACCAGTAAGTATAAGCCCTTTTCTCTTTAGTGCCAGCC... | pathogenic | 8,786 |
Classify the chromosome 1 variant at position 45507360 affecting gene MMACHC (metabolism of cobalamin associated C) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cobalamin_C_disease'] | GTGATGCACGCCTGTAGTCCCAGCAACTTGGGAGGCTGAGACAGGAAAATCACTTGAACCCGGGAGGTGGAGATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCC... | GTGATGCACGCCTGTAGTCCCAGCAACTTGGGAGGCTGAGACAGGAAAATCACTTGAACCCGGGAGGTGGAGATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCC... | pathogenic | 8,804 |
A genetic alteration at chromosome 1, position 45507396, in gene MMACHC (metabolism of cobalamin associated C)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cobalamin_C_disease'] | TGAGACAGGAAAATCACTTGAACCCGGGAGGTGGAGATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGG... | TGAGACAGGAAAATCACTTGAACCCGGGAGGTGGAGATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGG... | pathogenic | 8,806 |
Gene MMACHC (metabolism of cobalamin associated C) variant at chromosome 1, position 45507451—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cobalamin_C_disease'] | GCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGT... | GCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGT... | pathogenic | 8,809 |
Regarding the variant at chromosome 1 and position 45507458, affecting gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cobalamin_C_disease'] | TGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCT... | TGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCT... | pathogenic | 8,812 |
Chromosome 1, position 45507496, gene MMACHC (metabolism of cobalamin associated C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cobalamin_C_disease'] | AAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGT... | AAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGT... | pathogenic | 8,814 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 45507544, gene MMACHC (metabolism of cobalamin associated C). What disease(s) is it linked to if pathogenic? | pathogenic; ['Atypical_hemolytic-uremic_syndrome', 'Cobalamin_C_disease', 'Disorders_of_Intracellular_Cobalamin_Metabolism', 'Inborn_genetic_diseases', 'METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_cblC_TYPE,_DIGENIC', 'MMACHC-related_disorder', 'Methylmalonic_acidemia_with_homocystinuria_cblC', 'Methylmalonic_aciduria_a... | GTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAAT... | GTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAAT... | pathogenic | 8,816 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.