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 |
|---|---|---|---|---|---|
Evaluate the clinical significance of the mutation at chromosome 14, position 87992960 in gene GALC: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | TCAGTGGCCTTGAAATAACTTCCTCCTCCCTAATCCCTGAAAATGGTTATTAACCAAAATTAGTAATGTGCAAGACATCATCCTAAGTACTTTAGGTCTATCCTCACGGCGCTCCTACCATGCAGGTATAACTGTATCCCAAAAAAAGAAAGTGAGGCAGAGAGGAGTTATAATAGATAACCCACCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTC... | TCAGTGGCCTTGAAATAACTTCCTCCTCCCTAATCCCTGAAAATGGTTATTAACCAAAATTAGTAATGTGCAAGACATCATCCTAAGTACTTTAGGTCTATCCTCACGGCGCTCCTACCATGCAGGTATAACTGTATCCCAAAAAAAGAAAGTGAGGCAGAGAGGAGTTATAATAGATAACCCACCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTC... | pathogenic | 224,669 |
Gene mutation in GALC at chromosome 14, position 87992988—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | CCTAATCCCTGAAAATGGTTATTAACCAAAATTAGTAATGTGCAAGACATCATCCTAAGTACTTTAGGTCTATCCTCACGGCGCTCCTACCATGCAGGTATAACTGTATCCCAAAAAAAGAAAGTGAGGCAGAGAGGAGTTATAATAGATAACCCACCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAG... | CCTAATCCCTGAAAATGGTTATTAACCAAAATTAGTAATGTGCAAGACATCATCCTAAGTACTTTAGGTCTATCCTCACGGCGCTCCTACCATGCAGGTATAACTGTATCCCAAAAAAAGAAAGTGAGGCAGAGAGGAGTTATAATAGATAACCCACCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAG... | pathogenic | 224,673 |
Chromosome 14, position 87993009, gene GALC: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | TTAACCAAAATTAGTAATGTGCAAGACATCATCCTAAGTACTTTAGGTCTATCCTCACGGCGCTCCTACCATGCAGGTATAACTGTATCCCAAAAAAAGAAAGTGAGGCAGAGAGGAGTTATAATAGATAACCCACCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTG... | TTAACCAAAATTAGTAATGTGCAAGACATCATCCTAAGTACTTTAGGTCTATCCTCACGGCGCTCCTACCATGCAGGTATAACTGTATCCCAAAAAAAGAAAGTGAGGCAGAGAGGAGTTATAATAGATAACCCACCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTG... | pathogenic | 224,678 |
Variant in GALC (galactosylceramidase), chromosome 14, position 87993144—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | CCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCTACCAAGACTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG... | CCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCTACCAAGACTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG... | pathogenic | 224,686 |
Mutation at chromosome 14, position 87993155, within GALC (galactosylceramidase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | CAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCTACCAAGACTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATAGTCTTGAT... | CAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCTACCAAGACTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATAGTCTTGAT... | pathogenic | 224,688 |
Is the genetic variant on chromosome 14, position 87993157, gene GALC (galactosylceramidase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | GTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCTACCAAGACTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATAGTCTTGATCT... | GTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCTACCAAGACTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATAGTCTTGATCT... | pathogenic | 224,689 |
Considering the variant on chromosome 14, location 88393408, involving gene SPATA7 (spermatogenesis associated 7), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Leber_congenital_amaurosis_3'] | ATTTTTTTTTCTTGTTAAAAGTCAGAGCAACCTCTGTCCTTCCCAGATATGGTCCACCGTGCCTATTTAAAGGACACTTGAGCACCAAAAGTAATGGTAAGTGAGGTGCTTAAAACGGCAGCTTTGTTAGAAGATTGTCTGAGTGTTTCCTTTACTGGCAAATTATATGACATGATGGAAAAATTGTTTCATTTGACGAATATTTGAACTTCATATTATTAATTTTAATGAAATATAGGCGTTCTTGAGATTAGAGAATTTTGGAGTCTATGATTTCAAACTATTATTGTGCCCTGGATGTGGACTTGGCTGTCTCCTGC... | ATTTTTTTTTCTTGTTAAAAGTCAGAGCAACCTCTGTCCTTCCCAGATATGGTCCACCGTGCCTATTTAAAGGACACTTGAGCACCAAAAGTAATGGTAAGTGAGGTGCTTAAAACGGCAGCTTTGTTAGAAGATTGTCTGAGTGTTTCCTTTACTGGCAAATTATATGACATGATGGAAAAATTGTTTCATTTGACGAATATTTGAACTTCATATTATTAATTTTAATGAAATATAGGCGTTCTTGAGATTAGAGAATTTTGGAGTCTATGATTTCAAACTATTATTGTGCCCTGGATGTGGACTTGGCTGTCTCCTGC... | pathogenic | 224,699 |
Mutation at chromosome 14, position 88416735, within SPATA7 (spermatogenesis associated 7): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_3'] | TAAACTTGCCTCTTAACACTGCTTTTGCTGCATCCCAGAAATTTTGGTATGTTGTGTTTCTGTTTTTATTTATTTCAAAGAGTTTTTTTGTTTTTTTTTAATTTCACCTTCTGTTGTTTACCCAAAAGTCATTCAGGAGCAAGTTGGTTTAATTTCCATGTAAAATTATGTGGTTTTGAGGAGTACTCTTGGTATTGATTTCTACCTTTTTTTCCACCGTGGTCCAAAAATATGTTTGGCGTGGTTTCAATTTTTTTACATTTATTGAAACTTGCTTTGTCTTCGAGCATGTGGTTGATCTTAGAGTATGTTCCACATGC... | TAAACTTGCCTCTTAACACTGCTTTTGCTGCATCCCAGAAATTTTGGTATGTTGTGTTTCTGTTTTTATTTATTTCAAAGAGTTTTTTTGTTTTTTTTTAATTTCACCTTCTGTTGTTTACCCAAAAGTCATTCAGGAGCAAGTTGGTTTAATTTCCATGTAAAATTATGTGGTTTTGAGGAGTACTCTTGGTATTGATTTCTACCTTTTTTTCCACCGTGGTCCAAAAATATGTTTGGCGTGGTTTCAATTTTTTTACATTTATTGAAACTTGCTTTGTCTTCGAGCATGTGGTTGATCTTAGAGTATGTTCCACATGC... | pathogenic | 224,703 |
Does the variant on chromosome 14 at location 88426555 affecting gene SPATA7 (spermatogenesis associated 7) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_3'] | TTCTTTACAGGCAATCATAATGGCTTATGCATTTCTTTCTCCTTCCTCTGATCTCAGTTTGTGCTGTTCTTCTAAGTGTAAATAATTCCTGTGCTTATTAATTAATTGCCCTATAGGATATTTTTAGACTGTACTTAGAAATTTCTTCTTTGAGAGCTAAACTCTTCTGGTACATAAGCTGTAGTGTGAGTATCATTTAGGACTACTTATAAAAACTAACATCTTGAAGTCATTTACCAAATAGTACCCTAGTGACTCAAAATTTAATGCCAGCATACTTACTTGCTTTGAGTAATGTTGTCTTGTATTTGGAATAAGGT... | TTCTTTACAGGCAATCATAATGGCTTATGCATTTCTTTCTCCTTCCTCTGATCTCAGTTTGTGCTGTTCTTCTAAGTGTAAATAATTCCTGTGCTTATTAATTAATTGCCCTATAGGATATTTTTAGACTGTACTTAGAAATTTCTTCTTTGAGAGCTAAACTCTTCTGGTACATAAGCTGTAGTGTGAGTATCATTTAGGACTACTTATAAAAACTAACATCTTGAAGTCATTTACCAAATAGTACCCTAGTGACTCAAAATTTAATGCCAGCATACTTACTTGCTTTGAGTAATGTTGTCTTGTATTTGGAATAAGGT... | pathogenic | 224,712 |
Considering the variant on chromosome 14, location 88433152, involving gene SPATA7 (spermatogenesis associated 7), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_3', 'Retinal_dystrophy', 'Retinitis_pigmentosa_94,_variable_age_at_onset', 'SPATA7-related_disorder'] | AATGTTATTGAGTACTTATTGTATGCCAACCACTGTTTTGCTCAACTACTTTAACTTCCTCTTTCTAGGGCAATGTGTCAGTATTCCCTGAAGCCCCCTTCAACTCGTAAAATCTACTCTGAGTAAGATCTTTTTTAAGTCTTCGTTTTGCATAGTGGAATCAAGGATTAAGAATCAAAGAAACCATATTAAATAAGTCAGGATTGAACAATAATCTCTTTTTTTAAAACTGGCAAGTAATAAATGTACATATTCATGGAGTACCTAGTGATATTTTGATACATATACTGTACAGTGATTAGAACAGTTTAATTAGCATA... | AATGTTATTGAGTACTTATTGTATGCCAACCACTGTTTTGCTCAACTACTTTAACTTCCTCTTTCTAGGGCAATGTGTCAGTATTCCCTGAAGCCCCCTTCAACTCGTAAAATCTACTCTGAGTAAGATCTTTTTTAAGTCTTCGTTTTGCATAGTGGAATCAAGGATTAAGAATCAAAGAAACCATATTAAATAAGTCAGGATTGAACAATAATCTCTTTTTTTAAAACTGGCAAGTAATAAATGTACATATTCATGGAGTACCTAGTGATATTTTGATACATATACTGTACAGTGATTAGAACAGTTTAATTAGCATA... | pathogenic | 224,716 |
The mutation in gene SPATA7 (spermatogenesis associated 7) at chromosome 14, position 88437577—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Leber_congenital_amaurosis_3'] | CTTTCTATGTTTTTGTACCCATTAACTACCCCACTTAACCTGCAGCCCTCTACTACCCTTCCCAGCCTCTGTTAACCATCCTTCTACTCTCTATGCCCATGAGTTCAATTGTTTTGATTTTTAGATCCCACAAATACGTGGGAGAATGCAATGTTTGTCTTTCTGTGCCAGGCTCATTTCACTTAATATAATGATCTCCAGTTCCGTCCATATTGTTGCAGATGACAGGATCTCACTTTTTTAATGGCTGAATAGTACTCCATGGTGTATATGTACTACGTTTTTTTATCCATTCATTTGTTAATGGACACTTAGTTGCT... | CTTTCTATGTTTTTGTACCCATTAACTACCCCACTTAACCTGCAGCCCTCTACTACCCTTCCCAGCCTCTGTTAACCATCCTTCTACTCTCTATGCCCATGAGTTCAATTGTTTTGATTTTTAGATCCCACAAATACGTGGGAGAATGCAATGTTTGTCTTTCTGTGCCAGGCTCATTTCACTTAATATAATGATCTCCAGTTCCGTCCATATTGTTGCAGATGACAGGATCTCACTTTTTTAATGGCTGAATAGTACTCCATGGTGTATATGTACTACGTTTTTTTATCCATTCATTTGTTAATGGACACTTAGTTGCT... | pathogenic | 224,719 |
Clinical classification of chromosome 14, position 88437994, gene SPATA7 (spermatogenesis associated 7): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Leber_congenital_amaurosis_3', 'Retinitis_pigmentosa_94,_variable_age_at_onset'] | ATATGGTAGCTCAATTTCTAGTTTTTTGAGGGACCTCCAAACTGTTCTCCATAGTGGTTGAACTAATAGTTTACATTCTTACCAACAGTGTGCAAGGATTCCCTTTTCTCCACATCCTCACCAGCATTTATTATTGCTTGTTTTTGCATATAAGCCATTTTAACTGGAGTGAGATGATACCTCATTGTAGTTTTGATTTGCATTCCTCTGATGATCAGTGATGTGTGGAATACCTTTTCATATTCCTGTCTACAATTCGTATGTCTTTTGAGAATTGTCTATTCAAATCTTTTGCCCATTTTTTGATTGGGTTATTAGAT... | ATATGGTAGCTCAATTTCTAGTTTTTTGAGGGACCTCCAAACTGTTCTCCATAGTGGTTGAACTAATAGTTTACATTCTTACCAACAGTGTGCAAGGATTCCCTTTTCTCCACATCCTCACCAGCATTTATTATTGCTTGTTTTTGCATATAAGCCATTTTAACTGGAGTGAGATGATACCTCATTGTAGTTTTGATTTGCATTCCTCTGATGATCAGTGATGTGTGGAATACCTTTTCATATTCCTGTCTACAATTCGTATGTCTTTTGAGAATTGTCTATTCAAATCTTTTGCCCATTTTTTGATTGGGTTATTAGAT... | pathogenic | 224,721 |
Is chromosome 14, position 88840890, gene TTC8 (tetratricopeptide repeat domain 8) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_8', 'Retinitis_pigmentosa_51'] | ATCGGATAAATTGATCTTAGTTCAGTTCAACCAACATTTCTTGAATACCTACTGTCTACAAAAACCATAGATATTATGGAAAATTCCAAAGTGAACAAGATATAAAAGTTTGCTAGAGTGTTTTTCAAATATGGTTAAGTGTGTAATAATAGAGGCATAAAGAGAAGTCTCTGAGAAAGACAAGAGTGTGTAATAGGTTTAGAACTGGAAAATCAGGGAAGGCTTTATAATAAAGGACTTGACCTTGAAGGAGGAAGGCAGAAAGAACAATGTGGTTGTAGCTTTATTCATTTGTTTTCAAATTATTATTTTAGTAAAAT... | ATCGGATAAATTGATCTTAGTTCAGTTCAACCAACATTTCTTGAATACCTACTGTCTACAAAAACCATAGATATTATGGAAAATTCCAAAGTGAACAAGATATAAAAGTTTGCTAGAGTGTTTTTCAAATATGGTTAAGTGTGTAATAATAGAGGCATAAAGAGAAGTCTCTGAGAAAGACAAGAGTGTGTAATAGGTTTAGAACTGGAAAATCAGGGAAGGCTTTATAATAAAGGACTTGACCTTGAAGGAGGAAGGCAGAAAGAACAATGTGGTTGTAGCTTTATTCATTTGTTTTCAAATTATTATTTTAGTAAAAT... | pathogenic | 224,742 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 88843823, gene TTC8 (tetratricopeptide repeat domain 8). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Retinitis_pigmentosa_51'] | TGCAGCATCATCTTTGTAGAATGAAGCTTAAGAAGTCATCTGTATATGTACGTATTTTTTTCCTTTTTAGCTTGGACTATTCTCAGAGAAATAATTTTCTATCCTTGTAGGTTTTTTAGGACTGTCAAAGGATGATAAAAATTATGTACTCCTAATTAGTAATTTATCAGGCATCTCAAAAAGGATTACTGAAACCACATAGTGGCATGCCAACCACATTAGTAATTATCACTACTCAAAGATTAAATGCTCCTTTAAATTAAAGAGAAAATGAGAGGCAGAAGGAGAGGGAGAAAGGGAAAGAGAGGCAGAGGGAGAGA... | TGCAGCATCATCTTTGTAGAATGAAGCTTAAGAAGTCATCTGTATATGTACGTATTTTTTTCCTTTTTAGCTTGGACTATTCTCAGAGAAATAATTTTCTATCCTTGTAGGTTTTTTAGGACTGTCAAAGGATGATAAAAATTATGTACTCCTAATTAGTAATTTATCAGGCATCTCAAAAAGGATTACTGAAACCACATAGTGGCATGCCAACCACATTAGTAATTATCACTACTCAAAGATTAAATGCTCCTTTAAATTAAAGAGAAAATGAGAGGCAGAAGGAGAGGGAGAAAGGGAAAGAGAGGCAGAGGGAGAGA... | pathogenic | 224,751 |
The genetic variant at chromosome 14, position 88843849, affecting gene TTC8 (tetratricopeptide repeat domain 8): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_8', 'Retinitis_pigmentosa_51', 'TTC8-related_disorder'] | CTTAAGAAGTCATCTGTATATGTACGTATTTTTTTCCTTTTTAGCTTGGACTATTCTCAGAGAAATAATTTTCTATCCTTGTAGGTTTTTTAGGACTGTCAAAGGATGATAAAAATTATGTACTCCTAATTAGTAATTTATCAGGCATCTCAAAAAGGATTACTGAAACCACATAGTGGCATGCCAACCACATTAGTAATTATCACTACTCAAAGATTAAATGCTCCTTTAAATTAAAGAGAAAATGAGAGGCAGAAGGAGAGGGAGAAAGGGAAAGAGAGGCAGAGGGAGAGAAAGAGAAAAAGAAAAATAAAGGAAGG... | CTTAAGAAGTCATCTGTATATGTACGTATTTTTTTCCTTTTTAGCTTGGACTATTCTCAGAGAAATAATTTTCTATCCTTGTAGGTTTTTTAGGACTGTCAAAGGATGATAAAAATTATGTACTCCTAATTAGTAATTTATCAGGCATCTCAAAAAGGATTACTGAAACCACATAGTGGCATGCCAACCACATTAGTAATTATCACTACTCAAAGATTAAATGCTCCTTTAAATTAAAGAGAAAATGAGAGGCAGAAGGAGAGGGAGAAAGGGAAAGAGAGGCAGAGGGAGAGAAAGAGAAAAAGAAAAATAAAGGAAGG... | pathogenic | 224,752 |
Evaluate this variant at chromosome 14, position 88861322, gene TTC8 (tetratricopeptide repeat domain 8): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_8'] | CATCAGTGGTAGACCGGATAATGAAAATGTGGTACATATACACTATGGAATACTATACAGCCATAAAAAAGAATGAGAGCATGTCCTTTGCAGGAACATGGATGGAGCTGGAGGCCATTATCCTCAGCAAACTAACACAGGAACAGAAAACCACATACCTCATGTTCTCACTATAAGTGGGAGCTAACTGATGAGAACACATGGACACATAGAGGGGAGCAGCAGACACTGGGGCCTCCGAGAGGGTGTAAGGAGGGAGAGGAGCAGAAAAAATAACTAATGGGTAGTAGGCTTAATTCCTGGGTGATGAAATAATCTGT... | CATCAGTGGTAGACCGGATAATGAAAATGTGGTACATATACACTATGGAATACTATACAGCCATAAAAAAGAATGAGAGCATGTCCTTTGCAGGAACATGGATGGAGCTGGAGGCCATTATCCTCAGCAAACTAACACAGGAACAGAAAACCACATACCTCATGTTCTCACTATAAGTGGGAGCTAACTGATGAGAACACATGGACACATAGAGGGGAGCAGCAGACACTGGGGCCTCCGAGAGGGTGTAAGGAGGGAGAGGAGCAGAAAAAATAACTAATGGGTAGTAGGCTTAATTCCTGGGTGATGAAATAATCTGT... | pathogenic | 224,757 |
Determine whether the variant at chromosome 14, position 88870063, in gene TTC8 (tetratricopeptide repeat domain 8) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Retinitis_pigmentosa_51', 'TTC8-related_disorder'] | ACCAACTGAGAGAGAGATACAAGATTTCGACAAATAGAGGTCAGACCATTAGCTTGATTACAGATAAAAGCAGAAGTGGAGCTTTTGGCTTTAGACCTATGCTCAAAAGGACTTAACAACCTTCTCGCTCTGGGTTAAACAGACTAATCTACCCTGTCACAAACATAGTTGTACCAACCTACAGACTTTCTCCACTCAGAAGAGCTTATTATTTTTCATAAAAATGTTATGTATGTGAACATGTAATAGGTTTATTTTGTGTTATTTAGAATGAATTAATAAGTAAATGTTTAAAGATAGCTCAGTTGCAATTTCTAATA... | ACCAACTGAGAGAGAGATACAAGATTTCGACAAATAGAGGTCAGACCATTAGCTTGATTACAGATAAAAGCAGAAGTGGAGCTTTTGGCTTTAGACCTATGCTCAAAAGGACTTAACAACCTTCTCGCTCTGGGTTAAACAGACTAATCTACCCTGTCACAAACATAGTTGTACCAACCTACAGACTTTCTCCACTCAGAAGAGCTTATTATTTTTCATAAAAATGTTATGTATGTGAACATGTAATAGGTTTATTTTGTGTTATTTAGAATGAATTAATAAGTAAATGTTTAAAGATAGCTCAGTTGCAATTTCTAATA... | pathogenic | 224,760 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 88870084, gene TTC8 (tetratricopeptide repeat domain 8). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Retinitis_pigmentosa_51'] | AGATTTCGACAAATAGAGGTCAGACCATTAGCTTGATTACAGATAAAAGCAGAAGTGGAGCTTTTGGCTTTAGACCTATGCTCAAAAGGACTTAACAACCTTCTCGCTCTGGGTTAAACAGACTAATCTACCCTGTCACAAACATAGTTGTACCAACCTACAGACTTTCTCCACTCAGAAGAGCTTATTATTTTTCATAAAAATGTTATGTATGTGAACATGTAATAGGTTTATTTTGTGTTATTTAGAATGAATTAATAAGTAAATGTTTAAAGATAGCTCAGTTGCAATTTCTAATATTAATCTATATAACTTACATA... | AGATTTCGACAAATAGAGGTCAGACCATTAGCTTGATTACAGATAAAAGCAGAAGTGGAGCTTTTGGCTTTAGACCTATGCTCAAAAGGACTTAACAACCTTCTCGCTCTGGGTTAAACAGACTAATCTACCCTGTCACAAACATAGTTGTACCAACCTACAGACTTTCTCCACTCAGAAGAGCTTATTATTTTTCATAAAAATGTTATGTATGTGAACATGTAATAGGTTTATTTTGTGTTATTTAGAATGAATTAATAAGTAAATGTTTAAAGATAGCTCAGTTGCAATTTCTAATATTAATCTATATAACTTACATA... | pathogenic | 224,761 |
Variant in gene TTC8 (tetratricopeptide repeat domain 8), located at chromosome 14 position 88870199: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_8'] | AAACAGACTAATCTACCCTGTCACAAACATAGTTGTACCAACCTACAGACTTTCTCCACTCAGAAGAGCTTATTATTTTTCATAAAAATGTTATGTATGTGAACATGTAATAGGTTTATTTTGTGTTATTTAGAATGAATTAATAAGTAAATGTTTAAAGATAGCTCAGTTGCAATTTCTAATATTAATCTATATAACTTACATAAACAAAACTTCTTCTCAGCAATTTTTAACAGTTTAAAAGGAATCTTAGACCAAAACGTTTGAGAACCTCTGTTCTAATGGAAACATGGGAAGCTAAGAACATTTTTTAGAGTTGT... | AAACAGACTAATCTACCCTGTCACAAACATAGTTGTACCAACCTACAGACTTTCTCCACTCAGAAGAGCTTATTATTTTTCATAAAAATGTTATGTATGTGAACATGTAATAGGTTTATTTTGTGTTATTTAGAATGAATTAATAAGTAAATGTTTAAAGATAGCTCAGTTGCAATTTCTAATATTAATCTATATAACTTACATAAACAAAACTTCTTCTCAGCAATTTTTAACAGTTTAAAAGGAATCTTAGACCAAAACGTTTGAGAACCTCTGTTCTAATGGAAACATGGGAAGCTAAGAACATTTTTTAGAGTTGT... | pathogenic | 224,762 |
The genetic variant at chromosome 14, position 90401245, affecting gene CALM1 (calmodulin 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | AGATACTCTTTGCCAGAAAAGAGAGGAGTATATATAGTTTGATAATTATTGTGTAGTTTTCTGTGTACTTAATTTTTGCAGTTTTGTAACACTTCATTTGTAAGATGGTACCATTTTTTCCTGGCTTCTGAATCATAGGATAGTTTGACCCAGGGCATTAGCCATTGTAATGGTAGGCTTTTAACAAATAACTGCCTAATTTAAAGGATTGGAAAGCATTTGTTACATGGAAATGAAGTTGGTGGCGTACCCAGTTGCTGTATCTTTATTTTTTCTACTTAATTATTTCTCATAAAATGGATATAAAAGCCTGTTAATCC... | AGATACTCTTTGCCAGAAAAGAGAGGAGTATATATAGTTTGATAATTATTGTGTAGTTTTCTGTGTACTTAATTTTTGCAGTTTTGTAACACTTCATTTGTAAGATGGTACCATTTTTTCCTGGCTTCTGAATCATAGGATAGTTTGACCCAGGGCATTAGCCATTGTAATGGTAGGCTTTTAACAAATAACTGCCTAATTTAAAGGATTGGAAAGCATTTGTTACATGGAAATGAAGTTGGTGGCGTACCCAGTTGCTGTATCTTTATTTTTTCTACTTAATTATTTCTCATAAAATGGATATAAAAGCCTGTTAATCC... | benign | 224,828 |
Variant on chromosome 14, at position 90404518, affecting CALM1: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGG... | TGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGG... | benign | 224,849 |
Chromosome 14, position 90404672, gene CALM1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATA... | TCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATA... | benign | 224,850 |
Regarding the variant found on chromosome 14 at position 91273435 in gene CCDC88C (coiled-coil domain containing 88C): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hydrocephalus,_nonsyndromic,_autosomal_recessive_1', 'Spinocerebellar_ataxia_type_40'] | CACAACCCCAAACACTCCTAAAATGGATCTTGTTAACATTCAAAAGTCTCCCATTTCTTTCTCAGTATATTAAATCAAAAGGAAAAAAAAATCTTAAAAAAAAAAAATCAATAGGTTTAGTTCACCCCAGGAAAAGCACCTTTACAACAGGAAACTAAATTGTCAGGAATCTGACCAAAGACACAAAGCAGCAGATAAGATTCCCGACAGAAGAGAGTGACTCCCACTGGAACATAAATAGATCCCCCCAAAGTATACATATTTCACATGAGTGTGTACATATACATGTCATATATTAAAAAAAATTGGTTTCTATACCC... | CACAACCCCAAACACTCCTAAAATGGATCTTGTTAACATTCAAAAGTCTCCCATTTCTTTCTCAGTATATTAAATCAAAAGGAAAAAAAAATCTTAAAAAAAAAAAATCAATAGGTTTAGTTCACCCCAGGAAAAGCACCTTTACAACAGGAAACTAAATTGTCAGGAATCTGACCAAAGACACAAAGCAGCAGATAAGATTCCCGACAGAAGAGAGTGACTCCCACTGGAACATAAATAGATCCCCCCAAAGTATACATATTTCACATGAGTGTGTACATATACATGTCATATATTAAAAAAAATTGGTTTCTATACCC... | pathogenic | 224,876 |
For chromosome 14, position 91321225, gene CCDC88C (coiled-coil domain containing 88C): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hydrocephalus,_nonsyndromic,_autosomal_recessive_1', 'Spinocerebellar_ataxia_type_40'] | GTGTGAGGCAGGTGGATGAGAGGTCCTCTGACCTGGAATGAGCAAGACCTGTCGGCAATCCCTAGTCTCTCATTGGCCCCTTCCTGCACCTGAGAAGGAATCTGCCATGTGACAGGGATCCTCTTAACTGTAGAACAAGACTGGCTTGCAAACTCTCATCTGTTCACCCAGGTGTCTGGCTTCTACTCTGCTCCCAGGAAGACCTAACAGCTGTCATTAAAACAGAACACAGTTCAGCTATCTCTTCTTCCCCATCCCATAAACCCAGGGGAGGGAGAAAGCACTGACCTGCTTGTTTTACCACAGCAAGACCCTAAGGT... | GTGTGAGGCAGGTGGATGAGAGGTCCTCTGACCTGGAATGAGCAAGACCTGTCGGCAATCCCTAGTCTCTCATTGGCCCCTTCCTGCACCTGAGAAGGAATCTGCCATGTGACAGGGATCCTCTTAACTGTAGAACAAGACTGGCTTGCAAACTCTCATCTGTTCACCCAGGTGTCTGGCTTCTACTCTGCTCCCAGGAAGACCTAACAGCTGTCATTAAAACAGAACACAGTTCAGCTATCTCTTCTTCCCCATCCCATAAACCCAGGGGAGGGAGAAAGCACTGACCTGCTTGTTTTACCACAGCAAGACCCTAAGGT... | pathogenic | 224,936 |
Variant at chromosome 14, position 91337998, gene CCDC88C (coiled-coil domain containing 88C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CAATTCATCACCTGCGTTGGCGGCTCAGTGTCTGCAAACCCACGTTTGTCTCACTACCTATCCCTGAGTAAATGTCTCATGCAGAGAGACACTATTTCTCTTTCTCTTGTGATTAATAAAGTGAATACGAAATCTAAGGCATTATAAATCTCATGGTAATTTTCCACTATGAAAGTCATTAATGTGAAAAATACTTGTCACTTCACAGAGGCATGACACTGGAGATGATGGAAACCTCTCTAAAACTCCAAGAACTCCCTGATGCAGAGGGCACAGCTTGTGTGTTTCTAGATCCTCTGCTCCTGGTGCAGCGCTCAGTT... | CAATTCATCACCTGCGTTGGCGGCTCAGTGTCTGCAAACCCACGTTTGTCTCACTACCTATCCCTGAGTAAATGTCTCATGCAGAGAGACACTATTTCTCTTTCTCTTGTGATTAATAAAGTGAATACGAAATCTAAGGCATTATAAATCTCATGGTAATTTTCCACTATGAAAGTCATTAATGTGAAAAATACTTGTCACTTCACAGAGGCATGACACTGGAGATGATGGAAACCTCTCTAAAACTCCAAGAACTCCCTGATGCAGAGGGCACAGCTTGTGTGTTTCTAGATCCTCTGCTCCTGGTGCAGCGCTCAGTT... | benign | 224,941 |
Is the genetic variant on chromosome 14, position 91339331, gene CCDC88C (coiled-coil domain containing 88C), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hydrocephalus,_nonsyndromic,_autosomal_recessive_1', 'Spinocerebellar_ataxia_type_40'] | GGCTTGCCCAACACCAGTTACATCTTTGAAACCTCATAGAGCCATAACAATAATTCCTATTTTATTTTTAGGGACAGGGTTCCTCTCTGCCACCTAGGCTGGAGTGCAGCAGTGCAATCATAGCTCAATGCATTGCAGCCTTGACATCCCAGGTTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCACGTGGCACTATGCCTGGCTAAATTTTTTTATTTTTTGTAGAGACAGAGTCTTGCTATGTTGCCCAGGCTGATCTCAAACTCCTGGCCTCAAGCGATCCTCCCACCTTGGTCTCCCAA... | GGCTTGCCCAACACCAGTTACATCTTTGAAACCTCATAGAGCCATAACAATAATTCCTATTTTATTTTTAGGGACAGGGTTCCTCTCTGCCACCTAGGCTGGAGTGCAGCAGTGCAATCATAGCTCAATGCATTGCAGCCTTGACATCCCAGGTTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCACGTGGCACTATGCCTGGCTAAATTTTTTTATTTTTTGTAGAGACAGAGTCTTGCTATGTTGCCCAGGCTGATCTCAAACTCCTGGCCTCAAGCGATCCTCCCACCTTGGTCTCCCAA... | pathogenic | 224,951 |
Clinical classification of chromosome 14, position 91887318, gene FBLN5 (fibulin 5): benign or pathogenic? Disease(s) if pathogenic? | benign | GCAAAATGAGTCAACTGAAAATCTTGGCCAAATCGGCATGGATGTAAGCTTCTCAAGAAGCCAAAAGTCTCTTACACCTACACTTAGGGAAGATAAATTAACATGTAATGACTAAAACTCCACTGTGTCCAAAAAAAACCTCCTTGAAAGAGAAAAGTCCAGAGTGTTGTGGGGTAGGCAGGAATATTTGTCTCTCAGTGGCCCGCCTACCTTGGATCCTCCCTGGGACATGGGAAGCAGCAGCTTCCAGCCAGCCTGGAACCAGCCTGGAGCTGGGCCACCCTCTGGGCCGTGCCAACTTATTTAATTTTTGACCACTC... | GCAAAATGAGTCAACTGAAAATCTTGGCCAAATCGGCATGGATGTAAGCTTCTCAAGAAGCCAAAAGTCTCTTACACCTACACTTAGGGAAGATAAATTAACATGTAATGACTAAAACTCCACTGTGTCCAAAAAAAACCTCCTTGAAAGAGAAAAGTCCAGAGTGTTGTGGGGTAGGCAGGAATATTTGTCTCTCAGTGGCCCGCCTACCTTGGATCCTCCCTGGGACATGGGAAGCAGCAGCTTCCAGCCAGCCTGGAACCAGCCTGGAGCTGGGCCACCCTCTGGGCCGTGCCAACTTATTTAATTTTTGACCACTC... | benign | 225,003 |
Is the variant located on chromosome 14 at position 91947669, gene FBLN5 (fibulin 5), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TGCATCAGCAACCCTGGGTATTAGAGGACCTGGAGTTAAGCTGACATCCAGAGGGAATAGGGCCCTGATACGATCTTAGGAGATGCGAGGCCATTTCCTTTATCGAGTCCCCAATCCAAAAAATAAGGACGCTGAGAGTCCACAAGTTTTCATGTAAGTGCCTGGGTGAGCCAGATTCTAGAACGCTGGAGACAGCTCTGACCTTATAAAGTGCAGAGCCAAATCCCAGGGCTTTTTGATATTTGCCATGGCCAGATTTATATCTGGAAGGAATGAAAGAACAATAACAAATTTATTTTCCAGTCTGTGTATTATGAATT... | TGCATCAGCAACCCTGGGTATTAGAGGACCTGGAGTTAAGCTGACATCCAGAGGGAATAGGGCCCTGATACGATCTTAGGAGATGCGAGGCCATTTCCTTTATCGAGTCCCCAATCCAAAAAATAAGGACGCTGAGAGTCCACAAGTTTTCATGTAAGTGCCTGGGTGAGCCAGATTCTAGAACGCTGGAGACAGCTCTGACCTTATAAAGTGCAGAGCCAAATCCCAGGGCTTTTTGATATTTGCCATGGCCAGATTTATATCTGGAAGGAATGAAAGAACAATAACAAATTTATTTTCCAGTCTGTGTATTATGAATT... | benign | 225,026 |
Gene TRIP11 (thyroid hormone receptor interactor 11) variant at chromosome position 92005505 on chromosome 14: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Achondrogenesis,_type_IA'] | CCTTCTCCTTCATTGAGTGGCACTCAAACTCTTTTTCTCGCAGCATCATAGAAAACTTCATGTTAGTCTCTTGTAACGCTTGATATTCTGTTTCCTTTCCCCTGTATGTTTCCACTATTTTTTCATTTTCTCCTTTTAGTTTGCCAATGTCCATCTCTAGAATTAATATTCTCTCCTTCAGGTTTGTTACTGCCTGCCTCAAAAGTTCGTTTTCATTTACTTTGTTAGTGAAATTTTCATTGGAAGAAAGTAGTTGATCACTTTTGGCTTTGATTAAGAGGTCTTTTTCCTTAAGTAACTTTTGCAAAACATCTTGTTTC... | CCTTCTCCTTCATTGAGTGGCACTCAAACTCTTTTTCTCGCAGCATCATAGAAAACTTCATGTTAGTCTCTTGTAACGCTTGATATTCTGTTTCCTTTCCCCTGTATGTTTCCACTATTTTTTCATTTTCTCCTTTTAGTTTGCCAATGTCCATCTCTAGAATTAATATTCTCTCCTTCAGGTTTGTTACTGCCTGCCTCAAAAGTTCGTTTTCATTTACTTTGTTAGTGAAATTTTCATTGGAAGAAAGTAGTTGATCACTTTTGGCTTTGATTAAGAGGTCTTTTTCCTTAAGTAACTTTTGCAAAACATCTTGTTTC... | pathogenic | 225,088 |
Is the variant located on chromosome 14 at position 92006034, gene TRIP11 (thyroid hormone receptor interactor 11), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Achondrogenesis,_type_IA'] | AAGACACTCTGCAGACTGGGGAGTAAGCAATGATGCAGAAGACAGCTGGGGTGAAATAATATCAAGTTTTCCTAAAAGAAGATCCTTGGTATTGCAAAGCTGCCCAATGCTGTGCTGAACTTGTGCTAATTCCTGCCCAAAATTTTTGAGTTTGGTTTCATTCTGCTCATAACTTTGGATCAGGCCAGTATAGTCCACTTGTAATTTAGAATTATTATCACTGTCAACCAAAACCTGTGCTTGAAGTTGGTGAAGCTCTTCCTGAAGCTGGGCTGACTCGTGTTGCATATTTTGTACTGTGGTCATCACCTGCTGCTTCC... | AAGACACTCTGCAGACTGGGGAGTAAGCAATGATGCAGAAGACAGCTGGGGTGAAATAATATCAAGTTTTCCTAAAAGAAGATCCTTGGTATTGCAAAGCTGCCCAATGCTGTGCTGAACTTGTGCTAATTCCTGCCCAAAATTTTTGAGTTTGGTTTCATTCTGCTCATAACTTTGGATCAGGCCAGTATAGTCCACTTGTAATTTAGAATTATTATCACTGTCAACCAAAACCTGTGCTTGAAGTTGGTGAAGCTCTTCCTGAAGCTGGGCTGACTCGTGTTGCATATTTTGTACTGTGGTCATCACCTGCTGCTTCC... | pathogenic | 225,093 |
Regarding the variant at chromosome 14 and position 92006118, affecting gene TRIP11 (thyroid hormone receptor interactor 11): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CTTGGTATTGCAAAGCTGCCCAATGCTGTGCTGAACTTGTGCTAATTCCTGCCCAAAATTTTTGAGTTTGGTTTCATTCTGCTCATAACTTTGGATCAGGCCAGTATAGTCCACTTGTAATTTAGAATTATTATCACTGTCAACCAAAACCTGTGCTTGAAGTTGGTGAAGCTCTTCCTGAAGCTGGGCTGACTCGTGTTGCATATTTTGTACTGTGGTCATCACCTGCTGCTTCCACTCTTCCATTTTCTTTACTTGCTGTTTTAACTTGTCACGTTCCTGTAGAAGCTCCTCAAATTGATTACTATTAACACCTCCAG... | CTTGGTATTGCAAAGCTGCCCAATGCTGTGCTGAACTTGTGCTAATTCCTGCCCAAAATTTTTGAGTTTGGTTTCATTCTGCTCATAACTTTGGATCAGGCCAGTATAGTCCACTTGTAATTTAGAATTATTATCACTGTCAACCAAAACCTGTGCTTGAAGTTGGTGAAGCTCTTCCTGAAGCTGGGCTGACTCGTGTTGCATATTTTGTACTGTGGTCATCACCTGCTGCTTCCACTCTTCCATTTTCTTTACTTGCTGTTTTAACTTGTCACGTTCCTGTAGAAGCTCCTCAAATTGATTACTATTAACACCTCCAG... | benign | 225,095 |
Mutation found at chromosome 14 position 94378547, gene SERPINA1 (serpin family A member 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Alpha-1-antitrypsin_deficiency'] | GAAGGGGAGAGTGTGGTGAGGTGGTATGGTTCAGAGGAACAAGTAGCCCATCAAGCCAGCTTTGCCACTTATGAGCTGTGTGACATTGTGGGAGACCAGTAGCCTCTCTGAGCCTCAGTTTCCTCAGATTTGGAGTTTAAGAGCACAGCAGATATACTCACACATCGCAGTGCTGCTACAGTGAGTAAATGAGAAACAGCCAGGGGAGGTACTTCATAGGGATGTCTGATTCACAGAAAGCTCATAAGTGCAAGAAATGTAGTTCTATTTATTCTCTGTTCTAATGGGTATAAACATTTTGTTATCTAACTTGAACATCA... | GAAGGGGAGAGTGTGGTGAGGTGGTATGGTTCAGAGGAACAAGTAGCCCATCAAGCCAGCTTTGCCACTTATGAGCTGTGTGACATTGTGGGAGACCAGTAGCCTCTCTGAGCCTCAGTTTCCTCAGATTTGGAGTTTAAGAGCACAGCAGATATACTCACACATCGCAGTGCTGCTACAGTGAGTAAATGAGAAACAGCCAGGGGAGGTACTTCATAGGGATGTCTGATTCACAGAAAGCTCATAAGTGCAAGAAATGTAGTTCTATTTATTCTCTGTTCTAATGGGTATAAACATTTTGTTATCTAACTTGAACATCA... | pathogenic | 225,184 |
For chromosome 14, position 94378547, gene SERPINA1 (serpin family A member 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Alpha-1-antitrypsin_deficiency', 'PI_NULL(BOLTON)', 'PI_Q0(BOLTON)'] | GAAGGGGAGAGTGTGGTGAGGTGGTATGGTTCAGAGGAACAAGTAGCCCATCAAGCCAGCTTTGCCACTTATGAGCTGTGTGACATTGTGGGAGACCAGTAGCCTCTCTGAGCCTCAGTTTCCTCAGATTTGGAGTTTAAGAGCACAGCAGATATACTCACACATCGCAGTGCTGCTACAGTGAGTAAATGAGAAACAGCCAGGGGAGGTACTTCATAGGGATGTCTGATTCACAGAAAGCTCATAAGTGCAAGAAATGTAGTTCTATTTATTCTCTGTTCTAATGGGTATAAACATTTTGTTATCTAACTTGAACATCA... | GAAGGGGAGAGTGTGGTGAGGTGGTATGGTTCAGAGGAACAAGTAGCCCATCAAGCCAGCTTTGCCACTTATGAGCTGTGTGACATTGTGGGAGACCAGTAGCCTCTCTGAGCCTCAGTTTCCTCAGATTTGGAGTTTAAGAGCACAGCAGATATACTCACACATCGCAGTGCTGCTACAGTGAGTAAATGAGAAACAGCCAGGGGAGGTACTTCATAGGGATGTCTGATTCACAGAAAGCTCATAAGTGCAAGAAATGTAGTTCTATTTATTCTCTGTTCTAATGGGTATAAACATTTTGTTATCTAACTTGAACATCA... | pathogenic | 225,185 |
The mutation in gene SERPINA1 (serpin family A member 1) at chromosome 14, position 94378575—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Alpha-1-antitrypsin_deficiency'] | GTTCAGAGGAACAAGTAGCCCATCAAGCCAGCTTTGCCACTTATGAGCTGTGTGACATTGTGGGAGACCAGTAGCCTCTCTGAGCCTCAGTTTCCTCAGATTTGGAGTTTAAGAGCACAGCAGATATACTCACACATCGCAGTGCTGCTACAGTGAGTAAATGAGAAACAGCCAGGGGAGGTACTTCATAGGGATGTCTGATTCACAGAAAGCTCATAAGTGCAAGAAATGTAGTTCTATTTATTCTCTGTTCTAATGGGTATAAACATTTTGTTATCTAACTTGAACATCATACCAACTCAAAGGCAGGTCTTACTAGC... | GTTCAGAGGAACAAGTAGCCCATCAAGCCAGCTTTGCCACTTATGAGCTGTGTGACATTGTGGGAGACCAGTAGCCTCTCTGAGCCTCAGTTTCCTCAGATTTGGAGTTTAAGAGCACAGCAGATATACTCACACATCGCAGTGCTGCTACAGTGAGTAAATGAGAAACAGCCAGGGGAGGTACTTCATAGGGATGTCTGATTCACAGAAAGCTCATAAGTGCAAGAAATGTAGTTCTATTTATTCTCTGTTCTAATGGGTATAAACATTTTGTTATCTAACTTGAACATCATACCAACTCAAAGGCAGGTCTTACTAGC... | pathogenic | 225,186 |
Regarding the variant found on chromosome 14 at position 94378591 in gene SERPINA1 (serpin family A member 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Alpha-1-antitrypsin_deficiency'] | AGCCCATCAAGCCAGCTTTGCCACTTATGAGCTGTGTGACATTGTGGGAGACCAGTAGCCTCTCTGAGCCTCAGTTTCCTCAGATTTGGAGTTTAAGAGCACAGCAGATATACTCACACATCGCAGTGCTGCTACAGTGAGTAAATGAGAAACAGCCAGGGGAGGTACTTCATAGGGATGTCTGATTCACAGAAAGCTCATAAGTGCAAGAAATGTAGTTCTATTTATTCTCTGTTCTAATGGGTATAAACATTTTGTTATCTAACTTGAACATCATACCAACTCAAAGGCAGGTCTTACTAGCAATGACTGGGGCTCAG... | AGCCCATCAAGCCAGCTTTGCCACTTATGAGCTGTGTGACATTGTGGGAGACCAGTAGCCTCTCTGAGCCTCAGTTTCCTCAGATTTGGAGTTTAAGAGCACAGCAGATATACTCACACATCGCAGTGCTGCTACAGTGAGTAAATGAGAAACAGCCAGGGGAGGTACTTCATAGGGATGTCTGATTCACAGAAAGCTCATAAGTGCAAGAAATGTAGTTCTATTTATTCTCTGTTCTAATGGGTATAAACATTTTGTTATCTAACTTGAACATCATACCAACTCAAAGGCAGGTCTTACTAGCAATGACTGGGGCTCAG... | pathogenic | 225,188 |
Chromosome 14, position 94380921, gene SERPINA1 (serpin family A member 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Alpha-1-antitrypsin_deficiency', 'SERPINA1-related_disorder'] | CAACTCAGAACAGGGAAGAGCATCGTCACTCCACGTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAAT... | CAACTCAGAACAGGGAAGAGCATCGTCACTCCACGTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAAT... | pathogenic | 225,194 |
Clinical significance of chromosome 14, position 94381140, gene SERPINA1 (serpin family A member 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Alpha-1-antitrypsin_deficiency'] | AATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGGGTCAGTGACACAACCTCAAGGGAGGCCCCGAAAGTGCCAGCTGCACAGCAGTCCCCTGCCTGGCTTTGCTGTTTGACCACGTCCCGTGTCAGTGAATCACGGGCATCTTCAGGAGCTCAGCCTGGGTCTTCATTTGTTTCCCTCGGCCCCTTCCTCAGCCTCAGGACAGAGCTGCAGCCCCCACA... | AATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGGGTCAGTGACACAACCTCAAGGGAGGCCCCGAAAGTGCCAGCTGCACAGCAGTCCCCTGCCTGGCTTTGCTGTTTGACCACGTCCCGTGTCAGTGAATCACGGGCATCTTCAGGAGCTCAGCCTGGGTCTTCATTTGTTTCCCTCGGCCCCTTCCTCAGCCTCAGGACAGAGCTGCAGCCCCCACA... | pathogenic | 225,203 |
Considering the variant on chromosome 14, location 94382625, involving gene SERPINA1 (serpin family A member 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Alpha-1-antitrypsin_deficiency'] | GCCCTGGGCACTGGATATTGGGAAGGGACAGTGTCCACACTGGAGTGGGAAGTCCCCAGGGACGAGACCTTTACCTCCTCACCCCTGGGTACTGTCCTCCTCATGGAGCATGGATGGCGCTGCCTGAACTCAGTGGTGGCCTCATTCTGGAAGCCAAGTTTATACAGAGTAGCAGTGACCCAGGGATGTGGGGTTCACCCTCCTCAGCCCTCTGGCCAGTCCTGATGGGCCTCAGTCCCAACATGGCTAAGAGGTGTGGGCAGCTTCTTGGTCACCCTCAGGTTGGGGAATCACCTTCTGTCTTCATTTTCCAGGAACTT... | GCCCTGGGCACTGGATATTGGGAAGGGACAGTGTCCACACTGGAGTGGGAAGTCCCCAGGGACGAGACCTTTACCTCCTCACCCCTGGGTACTGTCCTCCTCATGGAGCATGGATGGCGCTGCCTGAACTCAGTGGTGGCCTCATTCTGGAAGCCAAGTTTATACAGAGTAGCAGTGACCCAGGGATGTGGGGTTCACCCTCCTCAGCCCTCTGGCCAGTCCTGATGGGCCTCAGTCCCAACATGGCTAAGAGGTGTGGGCAGCTTCTTGGTCACCCTCAGGTTGGGGAATCACCTTCTGTCTTCATTTTCCAGGAACTT... | pathogenic | 225,208 |
Does the genetic variant at chromosome 14, position 94382757, impacting gene SERPINA1 (serpin family A member 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Alpha-1-antitrypsin_deficiency'] | GTGGTGGCCTCATTCTGGAAGCCAAGTTTATACAGAGTAGCAGTGACCCAGGGATGTGGGGTTCACCCTCCTCAGCCCTCTGGCCAGTCCTGATGGGCCTCAGTCCCAACATGGCTAAGAGGTGTGGGCAGCTTCTTGGTCACCCTCAGGTTGGGGAATCACCTTCTGTCTTCATTTTCCAGGAACTTGGTGATGATATCGTGGGTGAGTTCATTTTCCAGGTGCTGTAGTTTCCCCTCATCAGGCAGGAAGAAGATGGCGGTGGCATTGCCCAGGTATTTCATCAGCAGCACCCAGCTGGACAGCTTCTTACAGTGCTG... | GTGGTGGCCTCATTCTGGAAGCCAAGTTTATACAGAGTAGCAGTGACCCAGGGATGTGGGGTTCACCCTCCTCAGCCCTCTGGCCAGTCCTGATGGGCCTCAGTCCCAACATGGCTAAGAGGTGTGGGCAGCTTCTTGGTCACCCTCAGGTTGGGGAATCACCTTCTGTCTTCATTTTCCAGGAACTTGGTGATGATATCGTGGGTGAGTTCATTTTCCAGGTGCTGTAGTTTCCCCTCATCAGGCAGGAAGAAGATGGCGGTGGCATTGCCCAGGTATTTCATCAGCAGCACCCAGCTGGACAGCTTCTTACAGTGCTG... | pathogenic | 225,213 |
Variant in SERPINA1 (serpin family A member 1), chromosome 14, position 94383008—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Alpha-1-antitrypsin_deficiency', 'PI_M(MALTON)', 'SERPINA1-related_disorder'] | GAAGATGGCGGTGGCATTGCCCAGGTATTTCATCAGCAGCACCCAGCTGGACAGCTTCTTACAGTGCTGGATGTTAAACATGCCTAAACGCTTCATCATAGGCACCTTCACGGTGGTCACCTGGTCCACGTGGAAGTCCTCTTCCTCGGTGTCCTTGACTTCAAAGGGTCTCTCCCATTTGCCTGGAGAGAGGGGAAGGTGGGCATCACCAGGGGTGAGTGAAGGTTTGGAAGAGTGTAGCAGAATAAAGAAACCATGAGTCCCCTCCCTGAGAAGCCCTGAGCCCCCTTGACGACACACATCCCTCGAGGCTCAGCTTC... | GAAGATGGCGGTGGCATTGCCCAGGTATTTCATCAGCAGCACCCAGCTGGACAGCTTCTTACAGTGCTGGATGTTAAACATGCCTAAACGCTTCATCATAGGCACCTTCACGGTGGTCACCTGGTCCACGTGGAAGTCCTCTTCCTCGGTGTCCTTGACTTCAAAGGGTCTCTCCCATTTGCCTGGAGAGAGGGGAAGGTGGGCATCACCAGGGGTGAGTGAAGGTTTGGAAGAGTGTAGCAGAATAAAGAAACCATGAGTCCCCTCCCTGAGAAGCCCTGAGCCCCCTTGACGACACACATCCCTCGAGGCTCAGCTTC... | pathogenic | 225,217 |
Regarding the variant found on chromosome 14 at position 94383155 in gene SERPINA1 (serpin family A member 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Alpha-1-antitrypsin_deficiency'] | GGTGTCCTTGACTTCAAAGGGTCTCTCCCATTTGCCTGGAGAGAGGGGAAGGTGGGCATCACCAGGGGTGAGTGAAGGTTTGGAAGAGTGTAGCAGAATAAAGAAACCATGAGTCCCCTCCCTGAGAAGCCCTGAGCCCCCTTGACGACACACATCCCTCGAGGCTCAGCTTCATCATCTGTAAAAGGTGCTGAAACTGACCATCCAAGCTGCCGAAAAAGATTGTGTGGGGATAATTCAAAACTAGAGGAAGATGCAGAATTTCTACATCGTGGCGATGTCAGGCTAAGAGATGCCATCGTGGCTGTGCATTTTTATTG... | GGTGTCCTTGACTTCAAAGGGTCTCTCCCATTTGCCTGGAGAGAGGGGAAGGTGGGCATCACCAGGGGTGAGTGAAGGTTTGGAAGAGTGTAGCAGAATAAAGAAACCATGAGTCCCCTCCCTGAGAAGCCCTGAGCCCCCTTGACGACACACATCCCTCGAGGCTCAGCTTCATCATCTGTAAAAGGTGCTGAAACTGACCATCCAAGCTGCCGAAAAAGATTGTGTGGGGATAATTCAAAACTAGAGGAAGATGCAGAATTTCTACATCGTGGCGATGTCAGGCTAAGAGATGCCATCGTGGCTGTGCATTTTTATTG... | pathogenic | 225,221 |
Clinical classification of chromosome 14, position 94769867, gene GSC (goosecoid homeobox): benign or pathogenic? Disease(s) if pathogenic? | benign | GCAGGGCTGAGCAGCTTGGAGCAGTGGGCTCCGTGGGAGCTCCCGGACTCCCCTAGCTCCCACCTCATCAGTGAGGGAAGAAGTGCTCCTTCTGCCCTCGGCAGAGGGGAGTCAGGGACCCAGGCTGCCCCTCTCAACTGCAATGGTACCTCCTCCCGGCTCTGGCCCAGCAATGCTACTCTCCAAACCTTCCTAGACATAAGGTTTCCTTTTAAACCAGGACACCCATGCTGTGACTGTTACCCAGAGCTTCATTTCTTGTTTGTTTGTTTGTTTAGGTAGATCATAGCTGCTCAGTTTTTTCCTCCGGAGGTTACGGA... | GCAGGGCTGAGCAGCTTGGAGCAGTGGGCTCCGTGGGAGCTCCCGGACTCCCCTAGCTCCCACCTCATCAGTGAGGGAAGAAGTGCTCCTTCTGCCCTCGGCAGAGGGGAGTCAGGGACCCAGGCTGCCCCTCTCAACTGCAATGGTACCTCCTCCCGGCTCTGGCCCAGCAATGCTACTCTCCAAACCTTCCTAGACATAAGGTTTCCTTTTAAACCAGGACACCCATGCTGTGACTGTTACCCAGAGCTTCATTTCTTGTTTGTTTGTTTGTTTAGGTAGATCATAGCTGCTCAGTTTTTTCCTCCGGAGGTTACGGA... | benign | 225,246 |
Does the variant impacting DICER1 (dicer 1, ribonuclease III) on chromosome 14, position 95091222, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['DICER1-related_tumor_predisposition', 'Hereditary_cancer-predisposing_syndrome'] | AGAAACTTAGGCAAATGCCTAAAGAAGTTTTTTTTTTTTTCCTTTTCCAAAGATGGAAATAATGAGCTAGTTTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTAT... | AGAAACTTAGGCAAATGCCTAAAGAAGTTTTTTTTTTTTTCCTTTTCCAAAGATGGAAATAATGAGCTAGTTTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTAT... | pathogenic | 225,300 |
For chromosome 14, position 95091250, gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['DICER1-related_tumor_predisposition'] | TTTTTTTTTTTTCCTTTTCCAAAGATGGAAATAATGAGCTAGTTTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAA... | TTTTTTTTTTTTCCTTTTCCAAAGATGGAAATAATGAGCTAGTTTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAA... | pathogenic | 225,303 |
Chromosome 14, position 95091301, gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['DICER1-related_tumor_predisposition', 'Euthyroid_goiter', 'Global_developmental_delay_-_lung_cysts_-_overgrowth_-_Wilms_tumor_syndrome', 'Pleuropulmonary_blastoma', 'Rhabdomyosarcoma,_embryonal,_2'] | ATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGAC... | ATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGAC... | pathogenic | 225,313 |
A genetic variant at chromosome 14, position 95091335, affecting gene DICER1 (dicer 1, ribonuclease III)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['DICER1-related_tumor_predisposition', 'Euthyroid_goiter', 'Global_developmental_delay_-_lung_cysts_-_overgrowth_-_Wilms_tumor_syndrome', 'Pleuropulmonary_blastoma', 'Rhabdomyosarcoma,_embryonal,_2'] | CGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGACTTTAGTAAAATGGGGTGTTTAGCCAAAGATCATT... | CGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGACTTTAGTAAAATGGGGTGTTTAGCCAAAGATCATT... | pathogenic | 225,319 |
The mutation in gene DICER1 (dicer 1, ribonuclease III) at chromosome 14, position 95091337—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['DICER1-related_tumor_predisposition'] | GCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGACTTTAGTAAAATGGGGTGTTTAGCCAAAGATCATTTT... | GCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGACTTTAGTAAAATGGGGTGTTTAGCCAAAGATCATTTT... | pathogenic | 225,320 |
Gene mutation in DICER1 (dicer 1, ribonuclease III) at chromosome 14, position 95091370—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGACTTTAGTAAAATGGGGTGTTTAGCCAAAGATCATTTTTATGATAAAAAATATCCGTAGACTACATATTCT... | TTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGACTTTAGTAAAATGGGGTGTTTAGCCAAAGATCATTTTTATGATAAAAAATATCCGTAGACTACATATTCT... | benign | 225,325 |
Evaluate if the mutation on chromosome 14 at position 95093935 in DICER1 (dicer 1, ribonuclease III) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['DICER1-related_tumor_predisposition'] | ACTAGATATGTGTTCACTATAACCGAGTATCTGACATAGCATGTATGCAAATTAATAAAAGAAAATCATGCATCAAAAGCCTTTGAAAAGTTCACAATTCTTTGATGCAGCAATTGCATCTCTAAGAACTTATTTTAAGGAGGTAACTAGATACATAAGCGTATTTATCACCTCCATGGTTATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATT... | ACTAGATATGTGTTCACTATAACCGAGTATCTGACATAGCATGTATGCAAATTAATAAAAGAAAATCATGCATCAAAAGCCTTTGAAAAGTTCACAATTCTTTGATGCAGCAATTGCATCTCTAAGAACTTATTTTAAGGAGGTAACTAGATACATAAGCGTATTTATCACCTCCATGGTTATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATT... | pathogenic | 225,332 |
The mutation impacting DICER1 (dicer 1, ribonuclease III) on chromosome 14 at position 95093952: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['DICER1-related_tumor_predisposition', 'Hereditary_cancer-predisposing_syndrome'] | TATAACCGAGTATCTGACATAGCATGTATGCAAATTAATAAAAGAAAATCATGCATCAAAAGCCTTTGAAAAGTTCACAATTCTTTGATGCAGCAATTGCATCTCTAAGAACTTATTTTAAGGAGGTAACTAGATACATAAGCGTATTTATCACCTCCATGGTTATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAG... | TATAACCGAGTATCTGACATAGCATGTATGCAAATTAATAAAAGAAAATCATGCATCAAAAGCCTTTGAAAAGTTCACAATTCTTTGATGCAGCAATTGCATCTCTAAGAACTTATTTTAAGGAGGTAACTAGATACATAAGCGTATTTATCACCTCCATGGTTATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAG... | pathogenic | 225,337 |
Considering the genetic mutation at chromosome 14, position 95093996, impacting DICER1 (dicer 1, ribonuclease III): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['DICER1-related_tumor_predisposition'] | AAAATCATGCATCAAAAGCCTTTGAAAAGTTCACAATTCTTTGATGCAGCAATTGCATCTCTAAGAACTTATTTTAAGGAGGTAACTAGATACATAAGCGTATTTATCACCTCCATGGTTATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAG... | AAAATCATGCATCAAAAGCCTTTGAAAAGTTCACAATTCTTTGATGCAGCAATTGCATCTCTAAGAACTTATTTTAAGGAGGTAACTAGATACATAAGCGTATTTATCACCTCCATGGTTATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAG... | pathogenic | 225,344 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 95094024, gene DICER1 (dicer 1, ribonuclease III). What disease(s) is it linked to if pathogenic? | pathogenic; ['DICER1-related_tumor_predisposition'] | GTTCACAATTCTTTGATGCAGCAATTGCATCTCTAAGAACTTATTTTAAGGAGGTAACTAGATACATAAGCGTATTTATCACCTCCATGGTTATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAA... | GTTCACAATTCTTTGATGCAGCAATTGCATCTCTAAGAACTTATTTTAAGGAGGTAACTAGATACATAAGCGTATTTATCACCTCCATGGTTATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAA... | pathogenic | 225,353 |
Gene DICER1 (dicer 1, ribonuclease III) variant at chromosome position 95094057 on chromosome 14: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['DICER1-related_tumor_predisposition'] | TAAGAACTTATTTTAAGGAGGTAACTAGATACATAAGCGTATTTATCACCTCCATGGTTATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCG... | TAAGAACTTATTTTAAGGAGGTAACTAGATACATAAGCGTATTTATCACCTCCATGGTTATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCG... | pathogenic | 225,360 |
Is the genetic mutation found on chromosome 14 at position 95094116, within the gene DICER1 (dicer 1, ribonuclease III), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['DICER1-related_tumor_predisposition', 'Euthyroid_goiter'] | ATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTT... | ATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTT... | pathogenic | 225,376 |
Regarding the variant at chromosome 14 and position 95094160, affecting gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAACACAAATCATTTGTGAAAAAAATAAAGAGAAAGT... | GAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAACACAAATCATTTGTGAAAAAAATAAAGAGAAAGT... | benign | 225,390 |
Determine whether the variant at chromosome 14, position 95094204, in gene DICER1 (dicer 1, ribonuclease III) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAACACAAATCATTTGTGAAAAAAATAAAGAGAAAGTGGGAAAATACTAATTTCTAATAGGTTGTTTAGCCATACAAAGTT... | CCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAACACAAATCATTTGTGAAAAAAATAAAGAGAAAGTGGGAAAATACTAATTTCTAATAGGTTGTTTAGCCATACAAAGTT... | benign | 225,393 |
Evaluate this variant at chromosome 14, position 95095898, gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['DICER1-related_tumor_predisposition'] | AGACCACTTTTTTCAACATCGTTTTGAACAGCACTAACCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGGTGCTTGGTTATGAGGTAGTCCAAAATCGCATCTCCCAGGAATTCTAAGCGCTGGTAACAATCTGAGGGGATCCG... | AGACCACTTTTTTCAACATCGTTTTGAACAGCACTAACCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGGTGCTTGGTTATGAGGTAGTCCAAAATCGCATCTCCCAGGAATTCTAAGCGCTGGTAACAATCTGAGGGGATCCG... | pathogenic | 225,413 |
Variant on chromosome 14, at position 95095902, affecting DICER1 (dicer 1, ribonuclease III): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CACTTTTTTCAACATCGTTTTGAACAGCACTAACCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGGTGCTTGGTTATGAGGTAGTCCAAAATCGCATCTCCCAGGAATTCTAAGCGCTGGTAACAATCTGAGGGGATCCGAAGT... | CACTTTTTTCAACATCGTTTTGAACAGCACTAACCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGGTGCTTGGTTATGAGGTAGTCCAAAATCGCATCTCCCAGGAATTCTAAGCGCTGGTAACAATCTGAGGGGATCCGAAGT... | pathogenic | 225,414 |
Determine whether the variant at chromosome 14, position 95095935, in gene DICER1 (dicer 1, ribonuclease III) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['DICER1-related_tumor_predisposition', 'Hereditary_cancer-predisposing_syndrome'] | CCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGGTGCTTGGTTATGAGGTAGTCCAAAATCGCATCTCCCAGGAATTCTAAGCGCTGGTAACAATCTGAGGGGATCCGAAGTGGAACCGTAAGCTTGTGCAGAAGCATTTACACT... | CCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGGTGCTTGGTTATGAGGTAGTCCAAAATCGCATCTCCCAGGAATTCTAAGCGCTGGTAACAATCTGAGGGGATCCGAAGTGGAACCGTAAGCTTGTGCAGAAGCATTTACACT... | pathogenic | 225,421 |
Benign or pathogenic: chromosome 14, position 95095958, gene DICER1 (dicer 1, ribonuclease III) variant? Disease(s) if pathogenic? | pathogenic; ['DICER1-related_tumor_predisposition', 'Hereditary_cancer-predisposing_syndrome'] | TCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGGTGCTTGGTTATGAGGTAGTCCAAAATCGCATCTCCCAGGAATTCTAAGCGCTGGTAACAATCTGAGGGGATCCGAAGTGGAACCGTAAGCTTGTGCAGAAGCATTTACACTATCCCCACATAGCAACTGATCCC... | TCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGGTGCTTGGTTATGAGGTAGTCCAAAATCGCATCTCCCAGGAATTCTAAGCGCTGGTAACAATCTGAGGGGATCCGAAGTGGAACCGTAAGCTTGTGCAGAAGCATTTACACTATCCCCACATAGCAACTGATCCC... | pathogenic | 225,424 |
Gene mutation in DICER1 (dicer 1, ribonuclease III) at chromosome 14, position 95095993—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['DICER1-related_tumor_predisposition', 'Hereditary_cancer-predisposing_syndrome'] | AATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGGTGCTTGGTTATGAGGTAGTCCAAAATCGCATCTCCCAGGAATTCTAAGCGCTGGTAACAATCTGAGGGGATCCGAAGTGGAACCGTAAGCTTGTGCAGAAGCATTTACACTATCCCCACATAGCAACTGATCCCCAAATCCGAAGAAGATTTGTATTTACAATCATTTT... | AATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGGTGCTTGGTTATGAGGTAGTCCAAAATCGCATCTCCCAGGAATTCTAAGCGCTGGTAACAATCTGAGGGGATCCGAAGTGGAACCGTAAGCTTGTGCAGAAGCATTTACACTATCCCCACATAGCAACTGATCCCCAAATCCGAAGAAGATTTGTATTTACAATCATTTT... | pathogenic | 225,429 |
Does the variant on chromosome 14 at location 95096230 affecting gene DICER1 (dicer 1, ribonuclease III) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['DICER1-related_tumor_predisposition', 'Hereditary_cancer-predisposing_syndrome'] | AAGCTTGTGCAGAAGCATTTACACTATCCCCACATAGCAACTGATCCCCAAATCCGAAGAAGATTTGTATTTACAATCATTTTCATACATATATTCTTCAAAAAGGATATCTGACATATCATACTAAAAAGCCTCTGGAAACTAAATTTTAATGACAAATTAAGTACATTTCTTATATAAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTC... | AAGCTTGTGCAGAAGCATTTACACTATCCCCACATAGCAACTGATCCCCAAATCCGAAGAAGATTTGTATTTACAATCATTTTCATACATATATTCTTCAAAAAGGATATCTGACATATCATACTAAAAAGCCTCTGGAAACTAAATTTTAATGACAAATTAAGTACATTTCTTATATAAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTC... | pathogenic | 225,473 |
Variant in gene DICER1 (dicer 1, ribonuclease III), located at chromosome 14 position 95096286: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['DICER1-related_tumor_predisposition', 'Pineoblastoma'] | AAGAAGATTTGTATTTACAATCATTTTCATACATATATTCTTCAAAAAGGATATCTGACATATCATACTAAAAAGCCTCTGGAAACTAAATTTTAATGACAAATTAAGTACATTTCTTATATAAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTC... | AAGAAGATTTGTATTTACAATCATTTTCATACATATATTCTTCAAAAAGGATATCTGACATATCATACTAAAAAGCCTCTGGAAACTAAATTTTAATGACAAATTAAGTACATTTCTTATATAAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTC... | pathogenic | 225,485 |
Variant on chromosome 14, at position 95096293, affecting DICER1 (dicer 1, ribonuclease III): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['DICER1-related_tumor_predisposition'] | TTTGTATTTACAATCATTTTCATACATATATTCTTCAAAAAGGATATCTGACATATCATACTAAAAAGCCTCTGGAAACTAAATTTTAATGACAAATTAAGTACATTTCTTATATAAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGG... | TTTGTATTTACAATCATTTTCATACATATATTCTTCAAAAAGGATATCTGACATATCATACTAAAAAGCCTCTGGAAACTAAATTTTAATGACAAATTAAGTACATTTCTTATATAAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGG... | pathogenic | 225,487 |
A mutation at chromosome position 95096313 on chromosome 14 in gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['DICER1-related_tumor_predisposition', 'Hereditary_cancer-predisposing_syndrome', 'Vertebral_anomalies_and_variable_endocrine_and_T-cell_dysfunction'] | CATACATATATTCTTCAAAAAGGATATCTGACATATCATACTAAAAAGCCTCTGGAAACTAAATTTTAATGACAAATTAAGTACATTTCTTATATAAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGC... | CATACATATATTCTTCAAAAAGGATATCTGACATATCATACTAAAAAGCCTCTGGAAACTAAATTTTAATGACAAATTAAGTACATTTCTTATATAAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGC... | pathogenic | 225,493 |
Benign or pathogenic: chromosome 14, position 95096364, gene DICER1 (dicer 1, ribonuclease III) variant? Disease(s) if pathogenic? | pathogenic; ['DICER1-related_tumor_predisposition', 'Hereditary_cancer-predisposing_syndrome'] | CTGGAAACTAAATTTTAATGACAAATTAAGTACATTTCTTATATAAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCA... | CTGGAAACTAAATTTTAATGACAAATTAAGTACATTTCTTATATAAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCA... | pathogenic | 225,500 |
Is the chromosome 14, position 95096408 variant in DICER1 (dicer 1, ribonuclease III) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['DICER1-related_tumor_predisposition'] | AAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAA... | AAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAA... | pathogenic | 225,508 |
Gene mutation in DICER1 (dicer 1, ribonuclease III) at chromosome 14, position 95096450—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['DICER1-related_tumor_predisposition', 'Hereditary_cancer-predisposing_syndrome'] | CTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACC... | CTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACC... | pathogenic | 225,515 |
Variant chromosome 14, position 95096461, gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic? Disease(s)? | pathogenic; ['DICER1-related_tumor_predisposition', 'Hereditary_cancer-predisposing_syndrome', 'Pleuropulmonary_blastoma'] | GGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGA... | GGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGA... | pathogenic | 225,519 |
Is the genetic change at chromosome 14, position 95096493, within gene DICER1 (dicer 1, ribonuclease III) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['DICER1-related_tumor_predisposition'] | TCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAA... | TCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAA... | pathogenic | 225,524 |
Considering the genetic mutation at chromosome 14, position 95096509, impacting DICER1 (dicer 1, ribonuclease III): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['DICER1-related_tumor_predisposition', 'Hereditary_cancer-predisposing_syndrome', 'Pineoblastoma', 'Rhabdomyosarcoma,_embryonal,_2'] | TCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAAAGGCAGGTAAACTGGT... | TCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAAAGGCAGGTAAACTGGT... | pathogenic | 225,529 |
Evaluate this variant at chromosome 14, position 95096511, gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['DICER1-related_tumor_predisposition', 'Hereditary_cancer-predisposing_syndrome'] | TGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAAAGGCAGGTAAACTGGTTG... | TGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAAAGGCAGGTAAACTGGTTG... | pathogenic | 225,530 |
Evaluate the clinical significance of the mutation at chromosome 14, position 95096513 in gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['DICER1-related_tumor_predisposition'] | GCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAAAGGCAGGTAAACTGGTTGTC... | GCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAAAGGCAGGTAAACTGGTTGTC... | pathogenic | 225,532 |
The mutation in gene DICER1 (dicer 1, ribonuclease III) at chromosome 14, position 95096513—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['DICER1-related_tumor_predisposition'] | GCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAAAGGCAGGTAAACTGGTTGTC... | GCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAAAGGCAGGTAAACTGGTTGTC... | pathogenic | 225,533 |
The genetic variant at chromosome 14, position 95096565, affecting gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['DICER1-related_tumor_predisposition', 'Global_developmental_delay_-_lung_cysts_-_overgrowth_-_Wilms_tumor_syndrome'] | ACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAAAGGCAGGTAAACTGGTTGTCAAAATGTGAAAATGATCAATGTTAAATCAACACCTCTATTTTCTCACAGTGA... | ACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAAAGGCAGGTAAACTGGTTGTCAAAATGTGAAAATGATCAATGTTAAATCAACACCTCTATTTTCTCACAGTGA... | pathogenic | 225,538 |
Is the genetic mutation found on chromosome 14 at position 95096607, within the gene DICER1 (dicer 1, ribonuclease III), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['DICER1-related_tumor_predisposition', 'Hereditary_cancer-predisposing_syndrome'] | ATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAAAGGCAGGTAAACTGGTTGTCAAAATGTGAAAATGATCAATGTTAAATCAACACCTCTATTTTCTCACAGTGATTAAAATAATATATCCAGCTGAGGAAACTGAGGCAGGGACCG... | ATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAAAGGCAGGTAAACTGGTTGTCAAAATGTGAAAATGATCAATGTTAAATCAACACCTCTATTTTCTCACAGTGATTAAAATAATATATCCAGCTGAGGAAACTGAGGCAGGGACCG... | pathogenic | 225,542 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 95099731, gene DICER1 (dicer 1, ribonuclease III). What disease(s) is it linked to if pathogenic? | benign | AACAACTTTCCAGTGTTCTGACAAAAAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGA... | AACAACTTTCCAGTGTTCTGACAAAAAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGA... | benign | 225,566 |
For chromosome 14, position 95099731, gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AACAACTTTCCAGTGTTCTGACAAAAAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGA... | AACAACTTTCCAGTGTTCTGACAAAAAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGA... | benign | 225,567 |
Variant at chromosome 14, position 95099731, gene DICER1 (dicer 1, ribonuclease III): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AACAACTTTCCAGTGTTCTGACAAAAAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGA... | AACAACTTTCCAGTGTTCTGACAAAAAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGA... | benign | 225,568 |
Regarding the variant at chromosome 14 and position 95099731, affecting gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AACAACTTTCCAGTGTTCTGACAAAAAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGA... | AACAACTTTCCAGTGTTCTGACAAAAAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGA... | benign | 225,569 |
The mutation in gene DICER1 (dicer 1, ribonuclease III) at chromosome 14, position 95099731—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AACAACTTTCCAGTGTTCTGACAAAAAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGA... | AACAACTTTCCAGTGTTCTGACAAAAAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGA... | benign | 225,570 |
Considering the genetic mutation at chromosome 14, position 95099731, impacting DICER1 (dicer 1, ribonuclease III): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AACAACTTTCCAGTGTTCTGACAAAAAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGA... | AACAACTTTCCAGTGTTCTGACAAAAAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGA... | benign | 225,571 |
Does the genetic variant at chromosome 14, position 95099752, impacting gene DICER1 (dicer 1, ribonuclease III), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CAAAAAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATA... | CAAAAAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATA... | benign | 225,572 |
Considering the variant on chromosome 14, location 95099756, involving gene DICER1 (dicer 1, ribonuclease III), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTT... | AAAAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTT... | benign | 225,573 |
Mutation found at chromosome 14 position 95099758, gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTT... | AAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTT... | benign | 225,574 |
Gene mutation in DICER1 (dicer 1, ribonuclease III) at chromosome 14, position 95099758—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTT... | AAAGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTT... | benign | 225,575 |
Chromosome 14, position 95099760, gene DICER1 (dicer 1, ribonuclease III): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTT... | AGTTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTT... | benign | 225,576 |
The mutation impacting DICER1 (dicer 1, ribonuclease III) on chromosome 14 at position 95099762: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTT... | TTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTT... | benign | 225,577 |
Does the variant on chromosome 14 at location 95099762 affecting gene DICER1 (dicer 1, ribonuclease III) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTT... | TTGCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTT... | benign | 225,578 |
Does the genetic variant at chromosome 14, position 95099764, impacting gene DICER1 (dicer 1, ribonuclease III), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTAT... | GCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTAT... | benign | 225,579 |
Is the chromosome 14, position 95099764 variant in DICER1 (dicer 1, ribonuclease III) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTAT... | GCAACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTAT... | benign | 225,580 |
Is chromosome 14, position 95099766, gene DICER1 (dicer 1, ribonuclease III) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTG... | AACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTG... | benign | 225,581 |
Gene DICER1 (dicer 1, ribonuclease III) variant at chromosome position 95099766 on chromosome 14: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTG... | AACCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTG... | benign | 225,582 |
Does the chromosome 14 mutation at position 95099768 within gene DICER1 (dicer 1, ribonuclease III) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTGAA... | CCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTGAA... | benign | 225,583 |
A mutation at chromosome position 95099768 on chromosome 14 in gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTGAA... | CCTTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTGAA... | benign | 225,584 |
Considering the genetic mutation at chromosome 14, position 95099770, impacting DICER1 (dicer 1, ribonuclease III): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTGAAAA... | TTCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTGAAAA... | benign | 225,586 |
Is the variant located on chromosome 14 at position 95099771, gene DICER1 (dicer 1, ribonuclease III), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTGAAAAA... | TCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTGAAAAA... | benign | 225,588 |
Regarding the variant found on chromosome 14 at position 95099771 in gene DICER1 (dicer 1, ribonuclease III): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTGAAAAA... | TCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTGAAAAA... | benign | 225,589 |
Clinical classification of chromosome 14, position 95099771, gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic? Disease(s) if pathogenic? | benign | TCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTGAAAAA... | TCAAGCATTTTTTAAATACTACAAATATTTTAAACTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTGAAAAA... | benign | 225,590 |
Gene mutation in DICER1 (dicer 1, ribonuclease III) at chromosome 14, position 95099805—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTGAAAAAAACCTTCTGTATCTTTAGAAAGGTGCCACCATAA... | CTAGACTCAAGATATAAACACTACATTTGTCTGAAAAGAAATAGCAGTAAGCCAAGCCATATCTCTAACTATTTATCTTTTCATTTTTTTAATTAAGAAAGAAACACCTTTTCAAGAATAAGGAACACCAAAAGCAACTGTAGCGGCAGACCTCAAGGAACATTTCCTGCTAACAATCTTAGACTTTCCAAGGCAACATGAAGATGTTTTTGATTGGTCCTTAAGAAAAAGAGGGCCAAACTGCGATTTTTAAAAAATCAGACAATATTTTTTTTTTATTGAAAAAAACCTTCTGTATCTTTAGAAAGGTGCCACCATAA... | benign | 225,597 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.