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 |
|---|---|---|---|---|---|
Variant on chromosome 8, at position 27780188, affecting ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Juberg-Hayward_syndrome', 'Roberts-SC_phocomelia_syndrome', 'Roberts_syndrome'] | ATTTCTACATGGCAATAATCAGAGCTGAATATCAGGCTGAGTATCATACCATTTGACAAATATGGGTTCTTCATTTCTCTAAGTCAGTGTATATCTATCTATTTAGATCAGTTTAGTTTTGATCATTTTACTTACTGCTGCCCTTGTAAGGCATTTAAGTTTTTAGTCCTCACTGTAAATGTTTGTTTTTTTTCCTGTTTATCGAGTATGGCCAAGTAGATTGTTAAATGAGATACGTTCTTGCTAGCTAAGCCATGACAGTCTAATTTTACTAATTCATTTTCTGTTTATATCAACAAAACACTTCTGTGTCTTGATAG... | ATTTCTACATGGCAATAATCAGAGCTGAATATCAGGCTGAGTATCATACCATTTGACAAATATGGGTTCTTCATTTCTCTAAGTCAGTGTATATCTATCTATTTAGATCAGTTTAGTTTTGATCATTTTACTTACTGCTGCCCTTGTAAGGCATTTAAGTTTTTAGTCCTCACTGTAAATGTTTGTTTTTTTTCCTGTTTATCGAGTATGGCCAAGTAGATTGTTAAATGAGATACGTTCTTGCTAGCTAAGCCATGACAGTCTAATTTTACTAATTCATTTTCTGTTTATATCAACAAAACACTTCTGTGTCTTGATAG... | pathogenic | 133,423 |
Variant in ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2), chromosome 8, position 27780206—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Roberts-SC_phocomelia_syndrome'] | TCAGAGCTGAATATCAGGCTGAGTATCATACCATTTGACAAATATGGGTTCTTCATTTCTCTAAGTCAGTGTATATCTATCTATTTAGATCAGTTTAGTTTTGATCATTTTACTTACTGCTGCCCTTGTAAGGCATTTAAGTTTTTAGTCCTCACTGTAAATGTTTGTTTTTTTTCCTGTTTATCGAGTATGGCCAAGTAGATTGTTAAATGAGATACGTTCTTGCTAGCTAAGCCATGACAGTCTAATTTTACTAATTCATTTTCTGTTTATATCAACAAAACACTTCTGTGTCTTGATAGGGATTTTGATTACAAGAG... | TCAGAGCTGAATATCAGGCTGAGTATCATACCATTTGACAAATATGGGTTCTTCATTTCTCTAAGTCAGTGTATATCTATCTATTTAGATCAGTTTAGTTTTGATCATTTTACTTACTGCTGCCCTTGTAAGGCATTTAAGTTTTTAGTCCTCACTGTAAATGTTTGTTTTTTTTCCTGTTTATCGAGTATGGCCAAGTAGATTGTTAAATGAGATACGTTCTTGCTAGCTAAGCCATGACAGTCTAATTTTACTAATTCATTTTCTGTTTATATCAACAAAACACTTCTGTGTCTTGATAGGGATTTTGATTACAAGAG... | pathogenic | 133,424 |
Evaluate this variant at chromosome 8, position 27780218, gene ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Juberg-Hayward_syndrome', 'Roberts-SC_phocomelia_syndrome'] | ATCAGGCTGAGTATCATACCATTTGACAAATATGGGTTCTTCATTTCTCTAAGTCAGTGTATATCTATCTATTTAGATCAGTTTAGTTTTGATCATTTTACTTACTGCTGCCCTTGTAAGGCATTTAAGTTTTTAGTCCTCACTGTAAATGTTTGTTTTTTTTCCTGTTTATCGAGTATGGCCAAGTAGATTGTTAAATGAGATACGTTCTTGCTAGCTAAGCCATGACAGTCTAATTTTACTAATTCATTTTCTGTTTATATCAACAAAACACTTCTGTGTCTTGATAGGGATTTTGATTACAAGAGTAAGCTTTATCA... | ATCAGGCTGAGTATCATACCATTTGACAAATATGGGTTCTTCATTTCTCTAAGTCAGTGTATATCTATCTATTTAGATCAGTTTAGTTTTGATCATTTTACTTACTGCTGCCCTTGTAAGGCATTTAAGTTTTTAGTCCTCACTGTAAATGTTTGTTTTTTTTCCTGTTTATCGAGTATGGCCAAGTAGATTGTTAAATGAGATACGTTCTTGCTAGCTAAGCCATGACAGTCTAATTTTACTAATTCATTTTCTGTTTATATCAACAAAACACTTCTGTGTCTTGATAGGGATTTTGATTACAAGAGTAAGCTTTATCA... | pathogenic | 133,425 |
Considering the variant on chromosome 8, location 27780265, involving gene ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Juberg-Hayward_syndrome', 'Roberts-SC_phocomelia_syndrome'] | TCTAAGTCAGTGTATATCTATCTATTTAGATCAGTTTAGTTTTGATCATTTTACTTACTGCTGCCCTTGTAAGGCATTTAAGTTTTTAGTCCTCACTGTAAATGTTTGTTTTTTTTCCTGTTTATCGAGTATGGCCAAGTAGATTGTTAAATGAGATACGTTCTTGCTAGCTAAGCCATGACAGTCTAATTTTACTAATTCATTTTCTGTTTATATCAACAAAACACTTCTGTGTCTTGATAGGGATTTTGATTACAAGAGTAAGCTTTATCAAAATGTATTAAACTGTGCTTTATACTTATACATTTGTATGAAAATTA... | TCTAAGTCAGTGTATATCTATCTATTTAGATCAGTTTAGTTTTGATCATTTTACTTACTGCTGCCCTTGTAAGGCATTTAAGTTTTTAGTCCTCACTGTAAATGTTTGTTTTTTTTCCTGTTTATCGAGTATGGCCAAGTAGATTGTTAAATGAGATACGTTCTTGCTAGCTAAGCCATGACAGTCTAATTTTACTAATTCATTTTCTGTTTATATCAACAAAACACTTCTGTGTCTTGATAGGGATTTTGATTACAAGAGTAAGCTTTATCAAAATGTATTAAACTGTGCTTTATACTTATACATTTGTATGAAAATTA... | pathogenic | 133,426 |
Is the genetic mutation found on chromosome 8 at position 27787975, within the gene ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Juberg-Hayward_syndrome', 'Roberts-SC_phocomelia_syndrome'] | TGAAGATAATTAATGTGGTCTTGCTATCAAGGAGGTTATGGTTAGAGGAGGGTAGACATTTAAACAAATATAGTGTTAGAGTTGCTAAAATGGAAGCAAAGAGATGGCTGTCACGCATGCAGAGTCAGGGAGAGCCTAGCAAAGGCTGCATAAGGTGAAAAGGGTCAGTGACTTGAACAAGTGTTTTTTCATACTGTAGGAAGTAGCCCATTAGTAGTTCATCAGACCAGTTTAGGGTGTCATATCTTGTGACAGTTACTATGGGACTGAACGAAGGTGGACGAACGCAGAAATGAAGACAAAGACAAAAGGATCTTTTT... | TGAAGATAATTAATGTGGTCTTGCTATCAAGGAGGTTATGGTTAGAGGAGGGTAGACATTTAAACAAATATAGTGTTAGAGTTGCTAAAATGGAAGCAAAGAGATGGCTGTCACGCATGCAGAGTCAGGGAGAGCCTAGCAAAGGCTGCATAAGGTGAAAAGGGTCAGTGACTTGAACAAGTGTTTTTTCATACTGTAGGAAGTAGCCCATTAGTAGTTCATCAGACCAGTTTAGGGTGTCATATCTTGTGACAGTTACTATGGGACTGAACGAAGGTGGACGAACGCAGAAATGAAGACAAAGACAAAAGGATCTTTTT... | pathogenic | 133,431 |
Is chromosome 8, position 27792741, gene ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Juberg-Hayward_syndrome', 'Roberts-SC_phocomelia_syndrome'] | ATCCACTGGAATTTTTTCAAGACATAGTGTTAGAGATGGATCCTTATATTTTTCCTAAAGGACTGCAAAGTGTGCCAACATTACTGTTTGACTAGTTTATCTTCCACACTGATTAGCAATGCCACGTTTAATGCATACCAAATTCCCACATATAAATGGGTTTGTTATTGGACACTTCTGCACCATCCATTTGTTCCTGTGCTAGTGCCATACTTTTATAAATGTAGCTTCATACTGTATAGTTAGGTAAGTTCCCTTTCATCCTTCTCTGTAAAAAATGTCTTGACTTTTTCTGCACATTTACTCTTTCAATTAAAAAG... | ATCCACTGGAATTTTTTCAAGACATAGTGTTAGAGATGGATCCTTATATTTTTCCTAAAGGACTGCAAAGTGTGCCAACATTACTGTTTGACTAGTTTATCTTCCACACTGATTAGCAATGCCACGTTTAATGCATACCAAATTCCCACATATAAATGGGTTTGTTATTGGACACTTCTGCACCATCCATTTGTTCCTGTGCTAGTGCCATACTTTTATAAATGTAGCTTCATACTGTATAGTTAGGTAAGTTCCCTTTCATCCTTCTCTGTAAAAAATGTCTTGACTTTTTCTGCACATTTACTCTTTCAATTAAAAAG... | pathogenic | 133,441 |
Gene ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2) variant at chromosome 8, position 27792786—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Juberg-Hayward_syndrome', 'Roberts-SC_phocomelia_syndrome'] | ATATTTTTCCTAAAGGACTGCAAAGTGTGCCAACATTACTGTTTGACTAGTTTATCTTCCACACTGATTAGCAATGCCACGTTTAATGCATACCAAATTCCCACATATAAATGGGTTTGTTATTGGACACTTCTGCACCATCCATTTGTTCCTGTGCTAGTGCCATACTTTTATAAATGTAGCTTCATACTGTATAGTTAGGTAAGTTCCCTTTCATCCTTCTCTGTAAAAAATGTCTTGACTTTTTCTGCACATTTACTCTTTCAATTAAAAAGCCTATCACATTCCCCCCAAATGAAAAACCTATTCGAATTTTTATT... | ATATTTTTCCTAAAGGACTGCAAAGTGTGCCAACATTACTGTTTGACTAGTTTATCTTCCACACTGATTAGCAATGCCACGTTTAATGCATACCAAATTCCCACATATAAATGGGTTTGTTATTGGACACTTCTGCACCATCCATTTGTTCCTGTGCTAGTGCCATACTTTTATAAATGTAGCTTCATACTGTATAGTTAGGTAAGTTCCCTTTCATCCTTCTCTGTAAAAAATGTCTTGACTTTTTCTGCACATTTACTCTTTCAATTAAAAAGCCTATCACATTCCCCCCAAATGAAAAACCTATTCGAATTTTTATT... | pathogenic | 133,442 |
Is the genetic change at chromosome 8, position 27799661, within gene ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Juberg-Hayward_syndrome', 'Roberts-SC_phocomelia_syndrome'] | TTTTATATATATTCCCTTCTTCCTCTCTTGCTGTCTTCCTTGGGATTTGATGATTTTCTGTAGTGGTGTGCTTTGATTTCTTTATCTTTTATGTATCTACTATAGGTTTTCGCTTTATGGTCATGAGGCTTACATAAAATATCCTATAATATAACAGCCTATTTTAAGCTGATAACAATTTATATCACCTACAAAAGCTCTGCACTTTTTTTCCCTTCAACATTACTAATTTTACAGTTTACATCTTTTTATGTTGTGTATTTATTTAAGAGGCCTTTTCCTTCTTCGATCTCAAAGAAGTAGACTGTTATGTCCTGATA... | TTTTATATATATTCCCTTCTTCCTCTCTTGCTGTCTTCCTTGGGATTTGATGATTTTCTGTAGTGGTGTGCTTTGATTTCTTTATCTTTTATGTATCTACTATAGGTTTTCGCTTTATGGTCATGAGGCTTACATAAAATATCCTATAATATAACAGCCTATTTTAAGCTGATAACAATTTATATCACCTACAAAAGCTCTGCACTTTTTTTCCCTTCAACATTACTAATTTTACAGTTTACATCTTTTTATGTTGTGTATTTATTTAAGAGGCCTTTTCCTTCTTCGATCTCAAAGAAGTAGACTGTTATGTCCTGATA... | pathogenic | 133,446 |
Mutation found at chromosome 8 position 30709906, gene GSR (glutathione-disulfide reductase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCCCTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCCAAAAAAATAATAATAAAAATAAATAAATAAATAGGGCTACAGTCTGGCAAGACTTAGCTGAGTACTCAAGAAGGGAACAGCTCTTTCTCAAAGTTAAAAACCCAGCATACACACCTTGGTGAGATTGTTTTGATAGATGGCATTCAGGCGGCTCACATAGGCATCCCGCTTTTCCTTAATAACACTGCAATGAAACCCAAGTCAGTATTCAGAAACAGGA... | GAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCCCTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCCAAAAAAATAATAATAAAAATAAATAAATAAATAGGGCTACAGTCTGGCAAGACTTAGCTGAGTACTCAAGAAGGGAACAGCTCTTTCTCAAAGTTAAAAACCCAGCATACACACCTTGGTGAGATTGTTTTGATAGATGGCATTCAGGCGGCTCACATAGGCATCCCGCTTTTCCTTAATAACACTGCAATGAAACCCAAGTCAGTATTCAGAAACAGGA... | benign | 133,507 |
Determine if the mutation at chromosome 8, position 30843289 in gene TEX15 (testis expressed 15, meiosis and synapsis associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Spermatogenic_failure_25'] | ACTTCTGAACTAAGAAGTCTTGAACAGCTGTAAGAGAAACCTCTTAGAGCAGTGCTGAGACAACTGTCAATAAGGGCTCTGGAGGCCAGACTGCCTGGTTTAGATCTGGGTGCTCCCATTTACTAAATTCTGTGACCCCAGGATAGTCATTTCCTCTGTGTCCCACTTTCCTTATCTTGAAGTAAGATAATAGGAAATACATCATAAGGGGTTGTGTATAAAATAAATCAGTGCCAAGTACATATTAAATGCTTTAGACAATTTGTTAAAATGTATTTAATATAGGACTTTTAACTCCTTGATAATTATCTCTTGAAAAA... | ACTTCTGAACTAAGAAGTCTTGAACAGCTGTAAGAGAAACCTCTTAGAGCAGTGCTGAGACAACTGTCAATAAGGGCTCTGGAGGCCAGACTGCCTGGTTTAGATCTGGGTGCTCCCATTTACTAAATTCTGTGACCCCAGGATAGTCATTTCCTCTGTGTCCCACTTTCCTTATCTTGAAGTAAGATAATAGGAAATACATCATAAGGGGTTGTGTATAAAATAAATCAGTGCCAAGTACATATTAAATGCTTTAGACAATTTGTTAAAATGTATTTAATATAGGACTTTTAACTCCTTGATAATTATCTCTTGAAAAA... | pathogenic | 133,524 |
Is the variant located on chromosome 8 at position 31058454, gene WRN (WRN RecQ like helicase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Werner_syndrome'] | TAACCAGTGACATATATAAAATGCTTTACAATTAATAAAGCATATGTATTTTACATATTTTTTCACTACATATGACGCATGTGGCAACCCCAAGAGTTGAGTTGTACCCATCGGCAAACTTTGATCATGATTCTGTGAATATAGGCAAGCACCAATTGCAGGTAGAACATTCTTTTTTTGAGTCCCAAACCGTGAGAAACAAATTACAGAAATGTACCTTTCTTTTGCATTAGGACACGTTGTAGTTTTGTATGAACACTCTAGTTTTAAGCAGTATGTGCAAAAACATTGCACAAAGGATTTGTGTGTTGATTTTGGGA... | TAACCAGTGACATATATAAAATGCTTTACAATTAATAAAGCATATGTATTTTACATATTTTTTCACTACATATGACGCATGTGGCAACCCCAAGAGTTGAGTTGTACCCATCGGCAAACTTTGATCATGATTCTGTGAATATAGGCAAGCACCAATTGCAGGTAGAACATTCTTTTTTTGAGTCCCAAACCGTGAGAAACAAATTACAGAAATGTACCTTTCTTTTGCATTAGGACACGTTGTAGTTTTGTATGAACACTCTAGTTTTAAGCAGTATGTGCAAAAACATTGCACAAAGGATTTGTGTGTTGATTTTGGGA... | pathogenic | 133,546 |
Mutation at chromosome 8, position 31064304, within WRN (WRN RecQ like helicase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Werner_syndrome'] | ATGTTGGCCTGAAGCAGAAGCTGAGTTTCTTTTATTTTTTAAATATAGTTTCAATTTTTAACAACTATTAAATAGGCAAGTATCAACAACAATAGATAACAATATAATAGATATGCATATTCCTCCCACTTTATCAAATCTTAATTTTCTTCAATTTTTTTTTTTTTTTTTAATAGGGTCTCACTCTGTTGCTCGTGCTGGAGTGACAGTGGTGTGATCTTGGTTCGCTGCAACCTCCGCCTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACCATCATGCCCAGATAAT... | ATGTTGGCCTGAAGCAGAAGCTGAGTTTCTTTTATTTTTTAAATATAGTTTCAATTTTTAACAACTATTAAATAGGCAAGTATCAACAACAATAGATAACAATATAATAGATATGCATATTCCTCCCACTTTATCAAATCTTAATTTTCTTCAATTTTTTTTTTTTTTTTTAATAGGGTCTCACTCTGTTGCTCGTGCTGGAGTGACAGTGGTGTGATCTTGGTTCGCTGCAACCTCCGCCTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACCATCATGCCCAGATAAT... | pathogenic | 133,560 |
Chromosome 8, position 31064407, gene WRN (WRN RecQ like helicase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Werner_syndrome'] | ATAATAGATATGCATATTCCTCCCACTTTATCAAATCTTAATTTTCTTCAATTTTTTTTTTTTTTTTTAATAGGGTCTCACTCTGTTGCTCGTGCTGGAGTGACAGTGGTGTGATCTTGGTTCGCTGCAACCTCCGCCTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACCATCATGCCCAGATAATTTATATATATATTTTTTTATAGAGATGGGGTTTTTGCCATGTTGCCCAGGCGGTCTCAAATTCCTGGACTCAAGCAATCTGCCTGCCTTGGCCCCCCAAAGTG... | ATAATAGATATGCATATTCCTCCCACTTTATCAAATCTTAATTTTCTTCAATTTTTTTTTTTTTTTTTAATAGGGTCTCACTCTGTTGCTCGTGCTGGAGTGACAGTGGTGTGATCTTGGTTCGCTGCAACCTCCGCCTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACCATCATGCCCAGATAATTTATATATATATTTTTTTATAGAGATGGGGTTTTTGCCATGTTGCCCAGGCGGTCTCAAATTCCTGGACTCAAGCAATCTGCCTGCCTTGGCCCCCCAAAGTG... | pathogenic | 133,562 |
Chromosome 8, position 31065044, gene WRN (WRN RecQ like helicase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Werner_syndrome'] | AATTTTTTATTTATAGTTTTTAAAGACAGGGTCTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCTTCTAGTGATCCTCCTGCCTTGGTCTCTTACTTAAAGCACTGGGATTACAGGTGTGAGCCACTGGCTGCTCACATGTTTTTTATAATAGTACTTAATAATTTTATGTCTGAAAATATTATATAATGTTATTTTGCCCATTTAAAAACTTTAAAAAATGCTAACAAACTGTGTACTCTGTAACTTGTCTTTTTTACTCAACACTACGTTTTTGAGAATTTTTCTTGTTGATCTGTGTAGTTCCATTTTAACT... | AATTTTTTATTTATAGTTTTTAAAGACAGGGTCTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCTTCTAGTGATCCTCCTGCCTTGGTCTCTTACTTAAAGCACTGGGATTACAGGTGTGAGCCACTGGCTGCTCACATGTTTTTTATAATAGTACTTAATAATTTTATGTCTGAAAATATTATATAATGTTATTTTGCCCATTTAAAAACTTTAAAAAATGCTAACAAACTGTGTACTCTGTAACTTGTCTTTTTTACTCAACACTACGTTTTTGAGAATTTTTCTTGTTGATCTGTGTAGTTCCATTTTAACT... | pathogenic | 133,570 |
Gene mutation in WRN (WRN RecQ like helicase) at chromosome 8, position 31065057—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Werner_syndrome'] | TAGTTTTTAAAGACAGGGTCTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCTTCTAGTGATCCTCCTGCCTTGGTCTCTTACTTAAAGCACTGGGATTACAGGTGTGAGCCACTGGCTGCTCACATGTTTTTTATAATAGTACTTAATAATTTTATGTCTGAAAATATTATATAATGTTATTTTGCCCATTTAAAAACTTTAAAAAATGCTAACAAACTGTGTACTCTGTAACTTGTCTTTTTTACTCAACACTACGTTTTTGAGAATTTTTCTTGTTGATCTGTGTAGTTCCATTTTAACTGTTATATCTTACT... | TAGTTTTTAAAGACAGGGTCTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCTTCTAGTGATCCTCCTGCCTTGGTCTCTTACTTAAAGCACTGGGATTACAGGTGTGAGCCACTGGCTGCTCACATGTTTTTTATAATAGTACTTAATAATTTTATGTCTGAAAATATTATATAATGTTATTTTGCCCATTTAAAAACTTTAAAAAATGCTAACAAACTGTGTACTCTGTAACTTGTCTTTTTTACTCAACACTACGTTTTTGAGAATTTTTCTTGTTGATCTGTGTAGTTCCATTTTAACTGTTATATCTTACT... | pathogenic | 133,571 |
Evaluate if the mutation on chromosome 8 at position 31076156 in WRN (WRN RecQ like helicase) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GTAGAGACGGGGTTTCACCATGTTAGCCAGGTTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCAAGAGTAACCTTTTCAAAAGCAGCTTTGCTCTACTGATTTGGGTAAAAGCTTAGTTGCAGTTGGTTTGGGAGGAAATGGGAGCAGAAAATTTGAGAGAGTGAGTGTAGACAACTCTTTCAAGGAATTTCGCTATAAATGGGAGTAGAGATCTGAAGACTGAATAATTAGCAAACTGAAAAGTGGGAAGACGTAATTCTCTTA... | GTAGAGACGGGGTTTCACCATGTTAGCCAGGTTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCAAGAGTAACCTTTTCAAAAGCAGCTTTGCTCTACTGATTTGGGTAAAAGCTTAGTTGCAGTTGGTTTGGGAGGAAATGGGAGCAGAAAATTTGAGAGAGTGAGTGTAGACAACTCTTTCAAGGAATTTCGCTATAAATGGGAGTAGAGATCTGAAGACTGAATAATTAGCAAACTGAAAAGTGGGAAGACGTAATTCTCTTA... | benign | 133,581 |
Is the genetic variant on chromosome 8, position 31076300, gene WRN (WRN RecQ like helicase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TGCTCTACTGATTTGGGTAAAAGCTTAGTTGCAGTTGGTTTGGGAGGAAATGGGAGCAGAAAATTTGAGAGAGTGAGTGTAGACAACTCTTTCAAGGAATTTCGCTATAAATGGGAGTAGAGATCTGAAGACTGAATAATTAGCAAACTGAAAAGTGGGAAGACGTAATTCTCTTATTATTTCATTTTTCTTAGTGAAATAAGAGGTGAAGTTCTCTGAGTAATAGGAGGGTCAAACAGGTGTTAGAAGTTCACAAAGAAAGGAAGAGGTTTGAAATAGTCATTTTGAGAGTGGGAAATGTAGAAGAATTAACAGTCATT... | TGCTCTACTGATTTGGGTAAAAGCTTAGTTGCAGTTGGTTTGGGAGGAAATGGGAGCAGAAAATTTGAGAGAGTGAGTGTAGACAACTCTTTCAAGGAATTTCGCTATAAATGGGAGTAGAGATCTGAAGACTGAATAATTAGCAAACTGAAAAGTGGGAAGACGTAATTCTCTTATTATTTCATTTTTCTTAGTGAAATAAGAGGTGAAGTTCTCTGAGTAATAGGAGGGTCAAACAGGTGTTAGAAGTTCACAAAGAAAGGAAGAGGTTTGAAATAGTCATTTTGAGAGTGGGAAATGTAGAAGAATTAACAGTCATT... | benign | 133,585 |
A genetic variant at chromosome 8, position 31080884, affecting gene WRN (WRN RecQ like helicase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Werner_syndrome'] | AGCCGTTGGTATTTGTTAGAGTAAATATTAGTTATCTTACATAAAGCATGTTATATTCCCTGATGTCAGGGCCTGATAAATGAGCCCTTACACTCTTGATAGTCAATCTGTGCCACTGTTGCTGTGTTTGTATGTTACACCATTTCCTGTCCATGTAACAGTTAAACTGTATCACATATCTGTTCCTACTAAACTATTTGCATATAATTTTAACATTTGAGTGGCTGTATATAAAGCTAAAAGTTCTTTATAAGATTTATAGCATCTTAGAATGTTTAAATTAGATAACATTAGTGTGCTTTTAGTTTTTGAATTTAATT... | AGCCGTTGGTATTTGTTAGAGTAAATATTAGTTATCTTACATAAAGCATGTTATATTCCCTGATGTCAGGGCCTGATAAATGAGCCCTTACACTCTTGATAGTCAATCTGTGCCACTGTTGCTGTGTTTGTATGTTACACCATTTCCTGTCCATGTAACAGTTAAACTGTATCACATATCTGTTCCTACTAAACTATTTGCATATAATTTTAACATTTGAGTGGCTGTATATAAAGCTAAAAGTTCTTTATAAGATTTATAGCATCTTAGAATGTTTAAATTAGATAACATTAGTGTGCTTTTAGTTTTTGAATTTAATT... | pathogenic | 133,589 |
Variant in gene WRN (WRN RecQ like helicase), located at chromosome 8 position 31080891: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Werner_syndrome'] | GGTATTTGTTAGAGTAAATATTAGTTATCTTACATAAAGCATGTTATATTCCCTGATGTCAGGGCCTGATAAATGAGCCCTTACACTCTTGATAGTCAATCTGTGCCACTGTTGCTGTGTTTGTATGTTACACCATTTCCTGTCCATGTAACAGTTAAACTGTATCACATATCTGTTCCTACTAAACTATTTGCATATAATTTTAACATTTGAGTGGCTGTATATAAAGCTAAAAGTTCTTTATAAGATTTATAGCATCTTAGAATGTTTAAATTAGATAACATTAGTGTGCTTTTAGTTTTTGAATTTAATTTTGCTCT... | GGTATTTGTTAGAGTAAATATTAGTTATCTTACATAAAGCATGTTATATTCCCTGATGTCAGGGCCTGATAAATGAGCCCTTACACTCTTGATAGTCAATCTGTGCCACTGTTGCTGTGTTTGTATGTTACACCATTTCCTGTCCATGTAACAGTTAAACTGTATCACATATCTGTTCCTACTAAACTATTTGCATATAATTTTAACATTTGAGTGGCTGTATATAAAGCTAAAAGTTCTTTATAAGATTTATAGCATCTTAGAATGTTTAAATTAGATAACATTAGTGTGCTTTTAGTTTTTGAATTTAATTTTGCTCT... | pathogenic | 133,590 |
Variant at chromosome 8, position 31081036, gene WRN (WRN RecQ like helicase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Werner_syndrome'] | ATGTAACAGTTAAACTGTATCACATATCTGTTCCTACTAAACTATTTGCATATAATTTTAACATTTGAGTGGCTGTATATAAAGCTAAAAGTTCTTTATAAGATTTATAGCATCTTAGAATGTTTAAATTAGATAACATTAGTGTGCTTTTAGTTTTTGAATTTAATTTTGCTCTTGATTTTGTTTGTGTTAATGTAGACTTTGTCTACGTAAGCTTGAGCCCAACTTTGGAGTGGTGTTTTCAGTGATGGAAGTAACTGGAAATAACTCATGAAACCACTTAGTACTTTTGATAGTTTATTCCCATGAAGGATCAAATT... | ATGTAACAGTTAAACTGTATCACATATCTGTTCCTACTAAACTATTTGCATATAATTTTAACATTTGAGTGGCTGTATATAAAGCTAAAAGTTCTTTATAAGATTTATAGCATCTTAGAATGTTTAAATTAGATAACATTAGTGTGCTTTTAGTTTTTGAATTTAATTTTGCTCTTGATTTTGTTTGTGTTAATGTAGACTTTGTCTACGTAAGCTTGAGCCCAACTTTGGAGTGGTGTTTTCAGTGATGGAAGTAACTGGAAATAACTCATGAAACCACTTAGTACTTTTGATAGTTTATTCCCATGAAGGATCAAATT... | pathogenic | 133,595 |
A genetic variant on chromosome 8, position 31081141, affects the gene WRN (WRN RecQ like helicase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Werner_syndrome'] | TATAGCATCTTAGAATGTTTAAATTAGATAACATTAGTGTGCTTTTAGTTTTTGAATTTAATTTTGCTCTTGATTTTGTTTGTGTTAATGTAGACTTTGTCTACGTAAGCTTGAGCCCAACTTTGGAGTGGTGTTTTCAGTGATGGAAGTAACTGGAAATAACTCATGAAACCACTTAGTACTTTTGATAGTTTATTCCCATGAAGGATCAAATTTTTACTTGAGTCATTAATATAAAAATTTAAAAGACATGTCAGATTTTATTAAGCATGGATTTTAAATATATAAATATTAGAAGACCTAAACAAAATCGCTAATGA... | TATAGCATCTTAGAATGTTTAAATTAGATAACATTAGTGTGCTTTTAGTTTTTGAATTTAATTTTGCTCTTGATTTTGTTTGTGTTAATGTAGACTTTGTCTACGTAAGCTTGAGCCCAACTTTGGAGTGGTGTTTTCAGTGATGGAAGTAACTGGAAATAACTCATGAAACCACTTAGTACTTTTGATAGTTTATTCCCATGAAGGATCAAATTTTTACTTGAGTCATTAATATAAAAATTTAAAAGACATGTCAGATTTTATTAAGCATGGATTTTAAATATATAAATATTAGAAGACCTAAACAAAATCGCTAATGA... | pathogenic | 133,597 |
Gene mutation in WRN (WRN RecQ like helicase) at chromosome 8, position 31081189—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Werner_syndrome'] | TTTTTGAATTTAATTTTGCTCTTGATTTTGTTTGTGTTAATGTAGACTTTGTCTACGTAAGCTTGAGCCCAACTTTGGAGTGGTGTTTTCAGTGATGGAAGTAACTGGAAATAACTCATGAAACCACTTAGTACTTTTGATAGTTTATTCCCATGAAGGATCAAATTTTTACTTGAGTCATTAATATAAAAATTTAAAAGACATGTCAGATTTTATTAAGCATGGATTTTAAATATATAAATATTAGAAGACCTAAACAAAATCGCTAATGAAAGAGTAAAACATGTCCCTGCCTATCATACTCCCTTCACTTTCACTGA... | TTTTTGAATTTAATTTTGCTCTTGATTTTGTTTGTGTTAATGTAGACTTTGTCTACGTAAGCTTGAGCCCAACTTTGGAGTGGTGTTTTCAGTGATGGAAGTAACTGGAAATAACTCATGAAACCACTTAGTACTTTTGATAGTTTATTCCCATGAAGGATCAAATTTTTACTTGAGTCATTAATATAAAAATTTAAAAGACATGTCAGATTTTATTAAGCATGGATTTTAAATATATAAATATTAGAAGACCTAAACAAAATCGCTAATGAAAGAGTAAAACATGTCCCTGCCTATCATACTCCCTTCACTTTCACTGA... | pathogenic | 133,600 |
Is chromosome 8, position 31081255, gene WRN (WRN RecQ like helicase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Werner_syndrome'] | GCCCAACTTTGGAGTGGTGTTTTCAGTGATGGAAGTAACTGGAAATAACTCATGAAACCACTTAGTACTTTTGATAGTTTATTCCCATGAAGGATCAAATTTTTACTTGAGTCATTAATATAAAAATTTAAAAGACATGTCAGATTTTATTAAGCATGGATTTTAAATATATAAATATTAGAAGACCTAAACAAAATCGCTAATGAAAGAGTAAAACATGTCCCTGCCTATCATACTCCCTTCACTTTCACTGATTTCTGCTTTTATGAAGTACTTTAATAAGCTCTACAACAAATAAACAAGACATTGTGCCTCATTTT... | GCCCAACTTTGGAGTGGTGTTTTCAGTGATGGAAGTAACTGGAAATAACTCATGAAACCACTTAGTACTTTTGATAGTTTATTCCCATGAAGGATCAAATTTTTACTTGAGTCATTAATATAAAAATTTAAAAGACATGTCAGATTTTATTAAGCATGGATTTTAAATATATAAATATTAGAAGACCTAAACAAAATCGCTAATGAAAGAGTAAAACATGTCCCTGCCTATCATACTCCCTTCACTTTCACTGATTTCTGCTTTTATGAAGTACTTTAATAAGCTCTACAACAAATAAACAAGACATTGTGCCTCATTTT... | pathogenic | 133,602 |
Variant at chromosome position 31087828, chromosome 8, gene WRN (WRN RecQ like helicase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Werner_syndrome'] | TTCTTGTGTTACTTTCTTGTAATTTTTTCCTGGAATATGGGTAGTGATTTGGCTCTCCAGTATTGAAATTGAGTTTCCTTTCTTCCAATTCATGTGTATCCATTTTTATTTGGAAGTTTTGTTTTTATACATTCAATAATCATCTTTACTTTCTTTGGTATTATTTACTATGGATATTTTATATTATATAATTTTCAAATGGATTAAATGGTTCAGTTTTACTCTTATTATTGAGATTGAAAATACTAGTTTATAATTTATATATTTTCTATTCCTTTACCTCTAATTTCTTTGTCAGGTGTTACTAACCAAAGATGTAT... | TTCTTGTGTTACTTTCTTGTAATTTTTTCCTGGAATATGGGTAGTGATTTGGCTCTCCAGTATTGAAATTGAGTTTCCTTTCTTCCAATTCATGTGTATCCATTTTTATTTGGAAGTTTTGTTTTTATACATTCAATAATCATCTTTACTTTCTTTGGTATTATTTACTATGGATATTTTATATTATATAATTTTCAAATGGATTAAATGGTTCAGTTTTACTCTTATTATTGAGATTGAAAATACTAGTTTATAATTTATATATTTTCTATTCCTTTACCTCTAATTTCTTTGTCAGGTGTTACTAACCAAAGATGTAT... | pathogenic | 133,612 |
A mutation at chromosome position 31087918 on chromosome 8 in gene WRN (WRN RecQ like helicase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Werner_syndrome'] | CATGTGTATCCATTTTTATTTGGAAGTTTTGTTTTTATACATTCAATAATCATCTTTACTTTCTTTGGTATTATTTACTATGGATATTTTATATTATATAATTTTCAAATGGATTAAATGGTTCAGTTTTACTCTTATTATTGAGATTGAAAATACTAGTTTATAATTTATATATTTTCTATTCCTTTACCTCTAATTTCTTTGTCAGGTGTTACTAACCAAAGATGTATAATAAGAAAAGCCAATGTAGCTAAATTAAGTAAAAAATGAAGAAAAACACAGAAGTTCCCCATTATGCATTTTTTTATTCCTAATCTTTA... | CATGTGTATCCATTTTTATTTGGAAGTTTTGTTTTTATACATTCAATAATCATCTTTACTTTCTTTGGTATTATTTACTATGGATATTTTATATTATATAATTTTCAAATGGATTAAATGGTTCAGTTTTACTCTTATTATTGAGATTGAAAATACTAGTTTATAATTTATATATTTTCTATTCCTTTACCTCTAATTTCTTTGTCAGGTGTTACTAACCAAAGATGTATAATAAGAAAAGCCAATGTAGCTAAATTAAGTAAAAAATGAAGAAAAACACAGAAGTTCCCCATTATGCATTTTTTTATTCCTAATCTTTA... | pathogenic | 133,614 |
Evaluate this variant at chromosome 8, position 31088890, gene WRN (WRN RecQ like helicase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Werner_syndrome'] | CTCTGAGAAGTACTGTTCCAATAGTACATTTATAGGAAACTTGTGGACGTCTACAAACGTATACATTAAATCTCTTAGAAGGCAACCTGGATGCCCATATTAGAGAACTCTATTTTAAACATGCATTCTAAGTATGTTTGTGGACTTGAATAAAATAAAACAAACAGAAACACTTCTTTCTTCTGCCTTCAGGCTTGAAATGAACATACTTTTTTTTAAAAAAAAACCTTCAAAATGAAAATATTAAATAAAAGATTTAATAAAAAGAGAAAGTAAAAACTGTAGTTTAATAAAGTCTTCCTGTCTCTTCATAGTTAAAA... | CTCTGAGAAGTACTGTTCCAATAGTACATTTATAGGAAACTTGTGGACGTCTACAAACGTATACATTAAATCTCTTAGAAGGCAACCTGGATGCCCATATTAGAGAACTCTATTTTAAACATGCATTCTAAGTATGTTTGTGGACTTGAATAAAATAAAACAAACAGAAACACTTCTTTCTTCTGCCTTCAGGCTTGAAATGAACATACTTTTTTTTAAAAAAAAACCTTCAAAATGAAAATATTAAATAAAAGATTTAATAAAAAGAGAAAGTAAAAACTGTAGTTTAATAAAGTCTTCCTGTCTCTTCATAGTTAAAA... | pathogenic | 133,617 |
Determine whether the variant at chromosome 8, position 31088940, in gene WRN (WRN RecQ like helicase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Werner_syndrome'] | CTACAAACGTATACATTAAATCTCTTAGAAGGCAACCTGGATGCCCATATTAGAGAACTCTATTTTAAACATGCATTCTAAGTATGTTTGTGGACTTGAATAAAATAAAACAAACAGAAACACTTCTTTCTTCTGCCTTCAGGCTTGAAATGAACATACTTTTTTTTAAAAAAAAACCTTCAAAATGAAAATATTAAATAAAAGATTTAATAAAAAGAGAAAGTAAAAACTGTAGTTTAATAAAGTCTTCCTGTCTCTTCATAGTTAAAAAATGTTATAGATGAAACAATTTTGAAATATTCTTGAAATAGATAATCTTT... | CTACAAACGTATACATTAAATCTCTTAGAAGGCAACCTGGATGCCCATATTAGAGAACTCTATTTTAAACATGCATTCTAAGTATGTTTGTGGACTTGAATAAAATAAAACAAACAGAAACACTTCTTTCTTCTGCCTTCAGGCTTGAAATGAACATACTTTTTTTTAAAAAAAAACCTTCAAAATGAAAATATTAAATAAAAGATTTAATAAAAAGAGAAAGTAAAAACTGTAGTTTAATAAAGTCTTCCTGTCTCTTCATAGTTAAAAAATGTTATAGATGAAACAATTTTGAAATATTCTTGAAATAGATAATCTTT... | pathogenic | 133,619 |
Variant at chromosome position 31090474, chromosome 8, gene WRN (WRN RecQ like helicase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Werner_syndrome'] | ACGAGATTTTCGTAACTAAATTTTGGTGTAACTACATTTAGCTTTAGGTAACTAAAACGAAGATTTTATTTTATCTGTGGATTTTTTTAGTGCGGGACTAATGTAATTTCTGATTACCATTAATTGAAGGTTGGTTATATTATAACATTTGGATTGGTATATTGCTTGCCATGGTTTGTTCTAAATGTTAGCCTTTAGAAGTATTCCTGATTCTAAAACATCAGTTTTTTTTAATAGTCCTGGCAAAGTGTGAATCACAACAAAATTCTAATACTTAAAAGTAATCCAAGTGTCACAGATGGTACCCAGAAGACCAGTTT... | ACGAGATTTTCGTAACTAAATTTTGGTGTAACTACATTTAGCTTTAGGTAACTAAAACGAAGATTTTATTTTATCTGTGGATTTTTTTAGTGCGGGACTAATGTAATTTCTGATTACCATTAATTGAAGGTTGGTTATATTATAACATTTGGATTGGTATATTGCTTGCCATGGTTTGTTCTAAATGTTAGCCTTTAGAAGTATTCCTGATTCTAAAACATCAGTTTTTTTTAATAGTCCTGGCAAAGTGTGAATCACAACAAAATTCTAATACTTAAAAGTAATCCAAGTGTCACAGATGGTACCCAGAAGACCAGTTT... | pathogenic | 133,621 |
A genetic alteration at chromosome 8, position 31090865, in gene WRN (WRN RecQ like helicase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Werner_syndrome'] | AAATAAACTGTTTTCTCCCTCTATGTGGTGTTTTTCTACTTGAACATAAATGCACATTTTATTTTATTTCCAGACTTTTTGTGGCCAGCACCCAATGAAGAGCAAGTTACTTGCCTCAAGATGTACTTTGGCCATTCCAGTTTTAAACCGTGAGTATAATCTCATTTAATCAAATCACATATTTAGTATTCTCTTTAAAACAAGGGAAAAGGCAAATAACCTGTCTGCTTAACAGCAACAGCACAACTTCACTATAGTTATACATGCCACACTGTATTTTCTGTGTGACTACAAAATTATTTCAAAGTGATATTTATATA... | AAATAAACTGTTTTCTCCCTCTATGTGGTGTTTTTCTACTTGAACATAAATGCACATTTTATTTTATTTCCAGACTTTTTGTGGCCAGCACCCAATGAAGAGCAAGTTACTTGCCTCAAGATGTACTTTGGCCATTCCAGTTTTAAACCGTGAGTATAATCTCATTTAATCAAATCACATATTTAGTATTCTCTTTAAAACAAGGGAAAAGGCAAATAACCTGTCTGCTTAACAGCAACAGCACAACTTCACTATAGTTATACATGCCACACTGTATTTTCTGTGTGACTACAAAATTATTTCAAAGTGATATTTATATA... | pathogenic | 133,629 |
Variant on chromosome 8, at position 31090910, affecting WRN (WRN RecQ like helicase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Werner_syndrome'] | ATAAATGCACATTTTATTTTATTTCCAGACTTTTTGTGGCCAGCACCCAATGAAGAGCAAGTTACTTGCCTCAAGATGTACTTTGGCCATTCCAGTTTTAAACCGTGAGTATAATCTCATTTAATCAAATCACATATTTAGTATTCTCTTTAAAACAAGGGAAAAGGCAAATAACCTGTCTGCTTAACAGCAACAGCACAACTTCACTATAGTTATACATGCCACACTGTATTTTCTGTGTGACTACAAAATTATTTCAAAGTGATATTTATATAAAATTCATTTCTGCAAATTGTTTTTATAAGTGAGGAAAAATGGTT... | ATAAATGCACATTTTATTTTATTTCCAGACTTTTTGTGGCCAGCACCCAATGAAGAGCAAGTTACTTGCCTCAAGATGTACTTTGGCCATTCCAGTTTTAAACCGTGAGTATAATCTCATTTAATCAAATCACATATTTAGTATTCTCTTTAAAACAAGGGAAAAGGCAAATAACCTGTCTGCTTAACAGCAACAGCACAACTTCACTATAGTTATACATGCCACACTGTATTTTCTGTGTGACTACAAAATTATTTCAAAGTGATATTTATATAAAATTCATTTCTGCAAATTGTTTTTATAAGTGAGGAAAAATGGTT... | pathogenic | 133,631 |
The mutation impacting WRN (WRN RecQ like helicase) on chromosome 8 at position 31096808: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Werner_syndrome'] | GGCATCTTCCACTTAGCATAGTGATATCAGTACTTCATTCGGTCTTTTTTTATGACTGAATAATATTCCATAGTATGGGCATACACATTTTAAAAATTCATTCATCAGTGATGGACATTTGGGTTGTTTCCTTTTTGGCTGTTATGAATAATGATGCTGTGAACATTTGTGTACCAATTTTTTTATGAACATACATTTTCAACGCTTTTGCATATATGCCTAAGAGTGGAATTGCTGGGCTATATGCTAATTTTTTAAGAAACTATGAAGCTTTTGAGAGTGATTGTATCATGGGATATTCCCACCAGCAGTGTATGAGA... | GGCATCTTCCACTTAGCATAGTGATATCAGTACTTCATTCGGTCTTTTTTTATGACTGAATAATATTCCATAGTATGGGCATACACATTTTAAAAATTCATTCATCAGTGATGGACATTTGGGTTGTTTCCTTTTTGGCTGTTATGAATAATGATGCTGTGAACATTTGTGTACCAATTTTTTTATGAACATACATTTTCAACGCTTTTGCATATATGCCTAAGAGTGGAATTGCTGGGCTATATGCTAATTTTTTAAGAAACTATGAAGCTTTTGAGAGTGATTGTATCATGGGATATTCCCACCAGCAGTGTATGAGA... | pathogenic | 133,635 |
Variant chromosome 8, position 31100837, gene WRN (WRN RecQ like helicase): benign or pathogenic? Disease(s)? | benign | GAATGTTGGCAAAAGCTTGTCTAAACTGATTTCCAGGGATAAGGTTTAGCTCCATTAAAAGCTAGTTTGTCAAACCTGTAACTAAAGCTTTTTAAAAAATGAAAGTTTTAAAAGAGACCATCATTCTGTTTTAACCTATTTAATTTAAAATCTGGGCTGAAGTAGGAGTATTGCTTGAACCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCATCTCTGAAAAAAAAAAATGAGCTGAGCATGGTACCTGTTACAGTGCTAGTTATGAAAGAAAGAAAGAGAGAGAGAGAGAAGGAAGGAAGGGAGAAAGG... | GAATGTTGGCAAAAGCTTGTCTAAACTGATTTCCAGGGATAAGGTTTAGCTCCATTAAAAGCTAGTTTGTCAAACCTGTAACTAAAGCTTTTTAAAAAATGAAAGTTTTAAAAGAGACCATCATTCTGTTTTAACCTATTTAATTTAAAATCTGGGCTGAAGTAGGAGTATTGCTTGAACCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCATCTCTGAAAAAAAAAAATGAGCTGAGCATGGTACCTGTTACAGTGCTAGTTATGAAAGAAAGAAAGAGAGAGAGAGAGAAGGAAGGAAGGGAGAAAGG... | benign | 133,637 |
Considering the variant on chromosome 8, location 31100859, involving gene WRN (WRN RecQ like helicase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Werner_syndrome'] | AAACTGATTTCCAGGGATAAGGTTTAGCTCCATTAAAAGCTAGTTTGTCAAACCTGTAACTAAAGCTTTTTAAAAAATGAAAGTTTTAAAAGAGACCATCATTCTGTTTTAACCTATTTAATTTAAAATCTGGGCTGAAGTAGGAGTATTGCTTGAACCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCATCTCTGAAAAAAAAAAATGAGCTGAGCATGGTACCTGTTACAGTGCTAGTTATGAAAGAAAGAAAGAGAGAGAGAGAGAAGGAAGGAAGGGAGAAAGGAAGGAAGGGGCTGGGAGTGGTG... | AAACTGATTTCCAGGGATAAGGTTTAGCTCCATTAAAAGCTAGTTTGTCAAACCTGTAACTAAAGCTTTTTAAAAAATGAAAGTTTTAAAAGAGACCATCATTCTGTTTTAACCTATTTAATTTAAAATCTGGGCTGAAGTAGGAGTATTGCTTGAACCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCATCTCTGAAAAAAAAAAATGAGCTGAGCATGGTACCTGTTACAGTGCTAGTTATGAAAGAAAGAAAGAGAGAGAGAGAGAAGGAAGGAAGGGAGAAAGGAAGGAAGGGGCTGGGAGTGGTG... | pathogenic | 133,639 |
Clinical significance of chromosome 8, position 31100883, gene WRN (WRN RecQ like helicase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Werner_syndrome'] | TAGCTCCATTAAAAGCTAGTTTGTCAAACCTGTAACTAAAGCTTTTTAAAAAATGAAAGTTTTAAAAGAGACCATCATTCTGTTTTAACCTATTTAATTTAAAATCTGGGCTGAAGTAGGAGTATTGCTTGAACCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCATCTCTGAAAAAAAAAAATGAGCTGAGCATGGTACCTGTTACAGTGCTAGTTATGAAAGAAAGAAAGAGAGAGAGAGAGAAGGAAGGAAGGGAGAAAGGAAGGAAGGGGCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACT... | TAGCTCCATTAAAAGCTAGTTTGTCAAACCTGTAACTAAAGCTTTTTAAAAAATGAAAGTTTTAAAAGAGACCATCATTCTGTTTTAACCTATTTAATTTAAAATCTGGGCTGAAGTAGGAGTATTGCTTGAACCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCATCTCTGAAAAAAAAAAATGAGCTGAGCATGGTACCTGTTACAGTGCTAGTTATGAAAGAAAGAAAGAGAGAGAGAGAGAAGGAAGGAAGGGAGAAAGGAAGGAAGGGGCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACT... | pathogenic | 133,641 |
A genetic variant at chromosome 8, position 31111627, affecting gene WRN (WRN RecQ like helicase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Werner_syndrome'] | TATAGAATTCTTTTTATTTATTTTAATAACAATATTTATGATAGTTGAAACTTTTTGAGTGCTTACTATATTTTATTTCATGCATTATGTTCAGCACTTTACATGTTTTATCTCACTTGATATTCACAACTTTATGAGATTGGCACTGTTATTGTAGCCATTTTATAGATGAGGAAACTGAAGCTTAGAGAGTTAAATAAAGAGCTCAAAATCTCACATCTAGTAAGTGGCAAAAACAGGATTTCAGCTCAAGCAATCTGATTCCAAAACAGACTTTTTTCACTGTGCTGCCATTCTTTTGCCTGGTTTTTCTGTTAACT... | TATAGAATTCTTTTTATTTATTTTAATAACAATATTTATGATAGTTGAAACTTTTTGAGTGCTTACTATATTTTATTTCATGCATTATGTTCAGCACTTTACATGTTTTATCTCACTTGATATTCACAACTTTATGAGATTGGCACTGTTATTGTAGCCATTTTATAGATGAGGAAACTGAAGCTTAGAGAGTTAAATAAAGAGCTCAAAATCTCACATCTAGTAAGTGGCAAAAACAGGATTTCAGCTCAAGCAATCTGATTCCAAAACAGACTTTTTTCACTGTGCTGCCATTCTTTTGCCTGGTTTTTCTGTTAACT... | pathogenic | 133,646 |
Considering the variant on chromosome 8, location 31111643, involving gene WRN (WRN RecQ like helicase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Werner_syndrome'] | TTTATTTTAATAACAATATTTATGATAGTTGAAACTTTTTGAGTGCTTACTATATTTTATTTCATGCATTATGTTCAGCACTTTACATGTTTTATCTCACTTGATATTCACAACTTTATGAGATTGGCACTGTTATTGTAGCCATTTTATAGATGAGGAAACTGAAGCTTAGAGAGTTAAATAAAGAGCTCAAAATCTCACATCTAGTAAGTGGCAAAAACAGGATTTCAGCTCAAGCAATCTGATTCCAAAACAGACTTTTTTCACTGTGCTGCCATTCTTTTGCCTGGTTTTTCTGTTAACTTCTTAAATATATGTCA... | TTTATTTTAATAACAATATTTATGATAGTTGAAACTTTTTGAGTGCTTACTATATTTTATTTCATGCATTATGTTCAGCACTTTACATGTTTTATCTCACTTGATATTCACAACTTTATGAGATTGGCACTGTTATTGTAGCCATTTTATAGATGAGGAAACTGAAGCTTAGAGAGTTAAATAAAGAGCTCAAAATCTCACATCTAGTAAGTGGCAAAAACAGGATTTCAGCTCAAGCAATCTGATTCCAAAACAGACTTTTTTCACTGTGCTGCCATTCTTTTGCCTGGTTTTTCTGTTAACTTCTTAAATATATGTCA... | pathogenic | 133,647 |
Gene WRN (WRN RecQ like helicase) variant at chromosome position 31111754 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Werner_syndrome'] | AACTTTATGAGATTGGCACTGTTATTGTAGCCATTTTATAGATGAGGAAACTGAAGCTTAGAGAGTTAAATAAAGAGCTCAAAATCTCACATCTAGTAAGTGGCAAAAACAGGATTTCAGCTCAAGCAATCTGATTCCAAAACAGACTTTTTTCACTGTGCTGCCATTCTTTTGCCTGGTTTTTCTGTTAACTTCTTAAATATATGTCATGTTTCATGCTTACTTCCTCATTTTCATAAATATATTACCTGCTCACTTATACATTATATTGCTTAGAAACAAACCCAACCCTGTTTTCTTATGGACTGTATCCTGAAAAT... | AACTTTATGAGATTGGCACTGTTATTGTAGCCATTTTATAGATGAGGAAACTGAAGCTTAGAGAGTTAAATAAAGAGCTCAAAATCTCACATCTAGTAAGTGGCAAAAACAGGATTTCAGCTCAAGCAATCTGATTCCAAAACAGACTTTTTTCACTGTGCTGCCATTCTTTTGCCTGGTTTTTCTGTTAACTTCTTAAATATATGTCATGTTTCATGCTTACTTCCTCATTTTCATAAATATATTACCTGCTCACTTATACATTATATTGCTTAGAAACAAACCCAACCCTGTTTTCTTATGGACTGTATCCTGAAAAT... | pathogenic | 133,650 |
The mutation impacting WRN (WRN RecQ like helicase) on chromosome 8 at position 31116423: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Werner_syndrome'] | AATTTTCTCCCCTCAGAAAATTAAGAGGAAATAAAAGTCTGTAGCAAATCACTTGGCAAAATAATGGCTCCTTTTGTAATAGGAATTTTTACTCTTTTGATTTATCTGTTACATAAGTTCAAATTTTTACATATTTTCCACCTTTTTTAAAAAAGAGTGATATGTAGTCAATATCAATTTGAGCAACACTGTTGCATATAAATTGAAAAGGACTCCAATTTTCTAATTCCGTACCTCAGTTGTGATCACTGTTGGTATTTTGGCATTTATGTAGACTTCCTTTCTCTGACCCTACTACTGTGCAGATATATAGTTGCAGT... | AATTTTCTCCCCTCAGAAAATTAAGAGGAAATAAAAGTCTGTAGCAAATCACTTGGCAAAATAATGGCTCCTTTTGTAATAGGAATTTTTACTCTTTTGATTTATCTGTTACATAAGTTCAAATTTTTACATATTTTCCACCTTTTTTAAAAAAGAGTGATATGTAGTCAATATCAATTTGAGCAACACTGTTGCATATAAATTGAAAAGGACTCCAATTTTCTAATTCCGTACCTCAGTTGTGATCACTGTTGGTATTTTGGCATTTATGTAGACTTCCTTTCTCTGACCCTACTACTGTGCAGATATATAGTTGCAGT... | pathogenic | 133,655 |
The mutation impacting WRN (WRN RecQ like helicase) on chromosome 8 at position 31120239: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Werner_syndrome'] | AGGAAACTTCACAATGATCATTAATTACACCTAATTTCTGGAAGAGTATATGCATGTATGTGTTGCGGTATTCTCCCTTGCTGTGGCAGGATGTCACAAATTTTTATCCACATTACGAAAATTTAAAAATTGATATGGTTTTTTCTCCCTACGTTGATATCAGATATTTTGTTTTATCTGACAGCTGGCCCAATGTACTCCTACTTTGCCATTATAAAGAATTCAAAAGCTTCATATTTGCATTGAAAGTTCTCAAACACTTTGTAAAGATGATGAAAGTATGTTTCATCATCTATGTAGAATAGTCAGGTGTTCTTGCA... | AGGAAACTTCACAATGATCATTAATTACACCTAATTTCTGGAAGAGTATATGCATGTATGTGTTGCGGTATTCTCCCTTGCTGTGGCAGGATGTCACAAATTTTTATCCACATTACGAAAATTTAAAAATTGATATGGTTTTTTCTCCCTACGTTGATATCAGATATTTTGTTTTATCTGACAGCTGGCCCAATGTACTCCTACTTTGCCATTATAAAGAATTCAAAAGCTTCATATTTGCATTGAAAGTTCTCAAACACTTTGTAAAGATGATGAAAGTATGTTTCATCATCTATGTAGAATAGTCAGGTGTTCTTGCA... | pathogenic | 133,664 |
Considering the genetic mutation at chromosome 8, position 31120295, impacting WRN (WRN RecQ like helicase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Werner_syndrome'] | TATGTGTTGCGGTATTCTCCCTTGCTGTGGCAGGATGTCACAAATTTTTATCCACATTACGAAAATTTAAAAATTGATATGGTTTTTTCTCCCTACGTTGATATCAGATATTTTGTTTTATCTGACAGCTGGCCCAATGTACTCCTACTTTGCCATTATAAAGAATTCAAAAGCTTCATATTTGCATTGAAAGTTCTCAAACACTTTGTAAAGATGATGAAAGTATGTTTCATCATCTATGTAGAATAGTCAGGTGTTCTTGCAATTGATTACTTGCTACCGAGAATTGAATACCTACTGAGTGCATAATGTATAGAATT... | TATGTGTTGCGGTATTCTCCCTTGCTGTGGCAGGATGTCACAAATTTTTATCCACATTACGAAAATTTAAAAATTGATATGGTTTTTTCTCCCTACGTTGATATCAGATATTTTGTTTTATCTGACAGCTGGCCCAATGTACTCCTACTTTGCCATTATAAAGAATTCAAAAGCTTCATATTTGCATTGAAAGTTCTCAAACACTTTGTAAAGATGATGAAAGTATGTTTCATCATCTATGTAGAATAGTCAGGTGTTCTTGCAATTGATTACTTGCTACCGAGAATTGAATACCTACTGAGTGCATAATGTATAGAATT... | pathogenic | 133,667 |
The genetic variant at chromosome 8, position 31132489, affecting gene WRN (WRN RecQ like helicase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Werner_syndrome'] | AGTCCTTTTGTTCTCAACCTACTTAAATAATTCTCATTTGAATTTATGATAGTTTCAGATCTACCCAAAGGGTGACTTAGGAATTTAACTTCTAAATCTATTTAAATGAAAGGTTTATAATCTTTTTGTCATATTTTACAGTCGTTAGCGTTTAACAATTTATAGCATAGGATTTGGGTTTTTTTTTTTTTTTCATTTTAAAGAAGAAGTTTATTTAAGCAAGACACTTGACTAAGGGAAGACTATCTTGGAGTTATTATTACTAGAGTAATTTATTTCTACTTAAAGACAGATTGCCCCACAAGTAACAGCTACATAAA... | AGTCCTTTTGTTCTCAACCTACTTAAATAATTCTCATTTGAATTTATGATAGTTTCAGATCTACCCAAAGGGTGACTTAGGAATTTAACTTCTAAATCTATTTAAATGAAAGGTTTATAATCTTTTTGTCATATTTTACAGTCGTTAGCGTTTAACAATTTATAGCATAGGATTTGGGTTTTTTTTTTTTTTTCATTTTAAAGAAGAAGTTTATTTAAGCAAGACACTTGACTAAGGGAAGACTATCTTGGAGTTATTATTACTAGAGTAATTTATTTCTACTTAAAGACAGATTGCCCCACAAGTAACAGCTACATAAA... | pathogenic | 133,681 |
Determine whether the variant at chromosome 8, position 31141480, in gene WRN (WRN RecQ like helicase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Werner_syndrome'] | TAAATGGCTTATAATATTGTTGACAAGGTTCCACTGCAAAATAGTTCACCAAGGGAGCTGTGGCCTCTTCTGTGATCAAGAAGCCATCTGTCAACTTGGGAAGCTTCCACTATAGCACCTAACCCCAGACTACATTGAGTAGGAAGCTGTAATAATCAGGAAGCTTCTACCTTTGCATGCTCTGCAAACCAACGTGAACCTGCTGTAATTTGTAACCACAAAATGGATGCCTGTTGATACTTACGAAGCTCATCATTGTATGCTGGGTTCTTTGCTAATACTTTCTTATAAAAATTAAATACCTCCACAATCATGCATGC... | TAAATGGCTTATAATATTGTTGACAAGGTTCCACTGCAAAATAGTTCACCAAGGGAGCTGTGGCCTCTTCTGTGATCAAGAAGCCATCTGTCAACTTGGGAAGCTTCCACTATAGCACCTAACCCCAGACTACATTGAGTAGGAAGCTGTAATAATCAGGAAGCTTCTACCTTTGCATGCTCTGCAAACCAACGTGAACCTGCTGTAATTTGTAACCACAAAATGGATGCCTGTTGATACTTACGAAGCTCATCATTGTATGCTGGGTTCTTTGCTAATACTTTCTTATAAAAATTAAATACCTCCACAATCATGCATGC... | pathogenic | 133,685 |
Variant chromosome 8, position 31141489, gene WRN (WRN RecQ like helicase): benign or pathogenic? Disease(s)? | pathogenic; ['Werner_syndrome'] | TATAATATTGTTGACAAGGTTCCACTGCAAAATAGTTCACCAAGGGAGCTGTGGCCTCTTCTGTGATCAAGAAGCCATCTGTCAACTTGGGAAGCTTCCACTATAGCACCTAACCCCAGACTACATTGAGTAGGAAGCTGTAATAATCAGGAAGCTTCTACCTTTGCATGCTCTGCAAACCAACGTGAACCTGCTGTAATTTGTAACCACAAAATGGATGCCTGTTGATACTTACGAAGCTCATCATTGTATGCTGGGTTCTTTGCTAATACTTTCTTATAAAAATTAAATACCTCCACAATCATGCATGCTAGCAGAAA... | TATAATATTGTTGACAAGGTTCCACTGCAAAATAGTTCACCAAGGGAGCTGTGGCCTCTTCTGTGATCAAGAAGCCATCTGTCAACTTGGGAAGCTTCCACTATAGCACCTAACCCCAGACTACATTGAGTAGGAAGCTGTAATAATCAGGAAGCTTCTACCTTTGCATGCTCTGCAAACCAACGTGAACCTGCTGTAATTTGTAACCACAAAATGGATGCCTGTTGATACTTACGAAGCTCATCATTGTATGCTGGGTTCTTTGCTAATACTTTCTTATAAAAATTAAATACCTCCACAATCATGCATGCTAGCAGAAA... | pathogenic | 133,686 |
Variant in gene WRN (WRN RecQ like helicase), located at chromosome 8 position 31141591: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Werner_syndrome'] | ATAGCACCTAACCCCAGACTACATTGAGTAGGAAGCTGTAATAATCAGGAAGCTTCTACCTTTGCATGCTCTGCAAACCAACGTGAACCTGCTGTAATTTGTAACCACAAAATGGATGCCTGTTGATACTTACGAAGCTCATCATTGTATGCTGGGTTCTTTGCTAATACTTTCTTATAAAAATTAAATACCTCCACAATCATGCATGCTAGCAGAAACAGCAGAGGAGTAGCCTTAGCCTCACTTCCTGCTTATACCTGTCATGCAAATATACAGAACCCAGAACCCTAGCTGAAAGGGAGTTTGAGAACTAGTATTTG... | ATAGCACCTAACCCCAGACTACATTGAGTAGGAAGCTGTAATAATCAGGAAGCTTCTACCTTTGCATGCTCTGCAAACCAACGTGAACCTGCTGTAATTTGTAACCACAAAATGGATGCCTGTTGATACTTACGAAGCTCATCATTGTATGCTGGGTTCTTTGCTAATACTTTCTTATAAAAATTAAATACCTCCACAATCATGCATGCTAGCAGAAACAGCAGAGGAGTAGCCTTAGCCTCACTTCCTGCTTATACCTGTCATGCAAATATACAGAACCCAGAACCCTAGCTGAAAGGGAGTTTGAGAACTAGTATTTG... | pathogenic | 133,690 |
Clinical significance of chromosome 8, position 31142634, gene WRN (WRN RecQ like helicase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Werner_syndrome'] | CTTTTCCTGGTATATCTCAGTGAAGCAGCTAAATTGTAAATGATTAAGTAAACTTTGCAGTGTATCATGTGCAAAAGCACAGTAAAAACAAAAATGCATTGGAAGCTGTGAGTTGTTGCACTGCACTCATGGATGAATAGCTGTTGGTTCGCATTGCGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATCCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGTGCCCG... | CTTTTCCTGGTATATCTCAGTGAAGCAGCTAAATTGTAAATGATTAAGTAAACTTTGCAGTGTATCATGTGCAAAAGCACAGTAAAAACAAAAATGCATTGGAAGCTGTGAGTTGTTGCACTGCACTCATGGATGAATAGCTGTTGGTTCGCATTGCGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATCCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGTGCCCG... | pathogenic | 133,703 |
Classify the chromosome 8 variant at position 31142635 affecting gene WRN (WRN RecQ like helicase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['WRN-related_disorder', 'Werner_syndrome'] | TTTTCCTGGTATATCTCAGTGAAGCAGCTAAATTGTAAATGATTAAGTAAACTTTGCAGTGTATCATGTGCAAAAGCACAGTAAAAACAAAAATGCATTGGAAGCTGTGAGTTGTTGCACTGCACTCATGGATGAATAGCTGTTGGTTCGCATTGCGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATCCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGTGCCCGC... | TTTTCCTGGTATATCTCAGTGAAGCAGCTAAATTGTAAATGATTAAGTAAACTTTGCAGTGTATCATGTGCAAAAGCACAGTAAAAACAAAAATGCATTGGAAGCTGTGAGTTGTTGCACTGCACTCATGGATGAATAGCTGTTGGTTCGCATTGCGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATCCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGTGCCCGC... | pathogenic | 133,704 |
The chromosome 8, position 31143615 genetic variant in gene WRN (WRN RecQ like helicase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Werner_syndrome'] | CAAATTTATGAAGATTTGCGCCCTTACGAAAAAGGTAAACGGTGTAGGAGTCTGCCTGTTTGACTTAATTTTGTTTCCCACTCCACATTAAAAGATCCTTTTTGCTTTTAATAGGGTAGAAATTGGCTTCATAAAGCTAATACAGAATCTCAGAGCCTCATCCTTCAAGCTAATGAAGAATTGTGTCCAAAGAAGTTGCTTCTGCCTAGGTTCATTTTTCAGTTTTTTTCTTGTAACTTCTGCATTTTTTGTTGCTATTTATGTGATTCAAATTATACCAGTTTATAGGCCTCTCACAAGTAAAATGAATTACCTGTTTG... | CAAATTTATGAAGATTTGCGCCCTTACGAAAAAGGTAAACGGTGTAGGAGTCTGCCTGTTTGACTTAATTTTGTTTCCCACTCCACATTAAAAGATCCTTTTTGCTTTTAATAGGGTAGAAATTGGCTTCATAAAGCTAATACAGAATCTCAGAGCCTCATCCTTCAAGCTAATGAAGAATTGTGTCCAAAGAAGTTGCTTCTGCCTAGGTTCATTTTTCAGTTTTTTTCTTGTAACTTCTGCATTTTTTGTTGCTATTTATGTGATTCAAATTATACCAGTTTATAGGCCTCTCACAAGTAAAATGAATTACCTGTTTG... | pathogenic | 133,707 |
Is the variant located on chromosome 8 at position 31143615, gene WRN (WRN RecQ like helicase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Werner_syndrome'] | CAAATTTATGAAGATTTGCGCCCTTACGAAAAAGGTAAACGGTGTAGGAGTCTGCCTGTTTGACTTAATTTTGTTTCCCACTCCACATTAAAAGATCCTTTTTGCTTTTAATAGGGTAGAAATTGGCTTCATAAAGCTAATACAGAATCTCAGAGCCTCATCCTTCAAGCTAATGAAGAATTGTGTCCAAAGAAGTTGCTTCTGCCTAGGTTCATTTTTCAGTTTTTTTCTTGTAACTTCTGCATTTTTTGTTGCTATTTATGTGATTCAAATTATACCAGTTTATAGGCCTCTCACAAGTAAAATGAATTACCTGTTTG... | CAAATTTATGAAGATTTGCGCCCTTACGAAAAAGGTAAACGGTGTAGGAGTCTGCCTGTTTGACTTAATTTTGTTTCCCACTCCACATTAAAAGATCCTTTTTGCTTTTAATAGGGTAGAAATTGGCTTCATAAAGCTAATACAGAATCTCAGAGCCTCATCCTTCAAGCTAATGAAGAATTGTGTCCAAAGAAGTTGCTTCTGCCTAGGTTCATTTTTCAGTTTTTTTCTTGTAACTTCTGCATTTTTTGTTGCTATTTATGTGATTCAAATTATACCAGTTTATAGGCCTCTCACAAGTAAAATGAATTACCTGTTTG... | pathogenic | 133,708 |
Variant on chromosome 8, at position 31147072, affecting WRN (WRN RecQ like helicase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Werner_syndrome'] | AGGTTGGTTCATGAGGTTTAAGGAAAGAAGCCATCTCCATAACATAAAAGTGCAAAGTGAAACAGCAAGTGCTGGTATAGAAGCTGTAGCAAGTTATCCAGAAGATCTAGCTAAGATCATCGATGAAGGTGCCTGCACTAACAGACTTTGAATGTAGACCAAATGCTTTCTACCAGAAGAAGAAGCTGTCTAGTACTTTCATAGCTAGAGAGAAGTCAATGCCTGGCTTCAAAGCTTCAAAGGACAAGCTGACTCTCTTGTTAGAAGCTGATGCAGCTGGTGACTTTAAGTTGAAGCCAGTGCTCAATTAGCATTCTGAA... | AGGTTGGTTCATGAGGTTTAAGGAAAGAAGCCATCTCCATAACATAAAAGTGCAAAGTGAAACAGCAAGTGCTGGTATAGAAGCTGTAGCAAGTTATCCAGAAGATCTAGCTAAGATCATCGATGAAGGTGCCTGCACTAACAGACTTTGAATGTAGACCAAATGCTTTCTACCAGAAGAAGAAGCTGTCTAGTACTTTCATAGCTAGAGAGAAGTCAATGCCTGGCTTCAAAGCTTCAAAGGACAAGCTGACTCTCTTGTTAGAAGCTGATGCAGCTGGTGACTTTAAGTTGAAGCCAGTGCTCAATTAGCATTCTGAA... | pathogenic | 133,713 |
Gene mutation in WRN (WRN RecQ like helicase) at chromosome 8, position 31147501—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AAGCCCATTGTTGAAACCTGCTTAGACAAAAGATTCCTTTCAAAATGTTATTGCTCATTGACAACACTTAGTCACCAAGAGCCGTAATGGAGACATACAAGGAGACTAACGTTGTTTTCATGCCTGCTCGCTTAACATCCATTCTGTAGCTCATGGATCAAGAAGTAAATTAACCTTTTAAGTATTATTATTTAAGAAATACAGTTTGTAATGCTTTAGCTTCTGTAGATAGTGATTATCAGAGATGGGTTTTTAAGAGGTTTTCCAGAAAACCTTCTGGAAAATATTCACTATTCTAGAAGTCATGAAGAATATTTGTG... | AAGCCCATTGTTGAAACCTGCTTAGACAAAAGATTCCTTTCAAAATGTTATTGCTCATTGACAACACTTAGTCACCAAGAGCCGTAATGGAGACATACAAGGAGACTAACGTTGTTTTCATGCCTGCTCGCTTAACATCCATTCTGTAGCTCATGGATCAAGAAGTAAATTAACCTTTTAAGTATTATTATTTAAGAAATACAGTTTGTAATGCTTTAGCTTCTGTAGATAGTGATTATCAGAGATGGGTTTTTAAGAGGTTTTCCAGAAAACCTTCTGGAAAATATTCACTATTCTAGAAGTCATGAAGAATATTTGTG... | benign | 133,716 |
Variant in gene WRN (WRN RecQ like helicase), located at chromosome 8 position 31150354: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Werner_syndrome'] | GTTGCAGAAGCCTCTTAACTATTAACCCTTCATTCTCTCTCTCTGTTTCATCTGATATATGAGTACCAAACTAAATCTTCCTTTATCATATCTTACTTCTGCTTAAATGTTTTTTTTCTAGCTTAGAATTCAAGGCCCTCTATTTATGAACTTAAACTTACTTTTCCCTCTAAGTTACAGAATTTGAAATGGTTTATCTTACCTGGATTGTTTATCACTTGTTGAAGATCCATTTTCAACTTCCATATATTTATTTACAGTGTTGCTTCTCCTTGTAGTTTCCTTGATTCCTCAAAACTCCTTTTAAGAATTCTTGAAGA... | GTTGCAGAAGCCTCTTAACTATTAACCCTTCATTCTCTCTCTCTGTTTCATCTGATATATGAGTACCAAACTAAATCTTCCTTTATCATATCTTACTTCTGCTTAAATGTTTTTTTTCTAGCTTAGAATTCAAGGCCCTCTATTTATGAACTTAAACTTACTTTTCCCTCTAAGTTACAGAATTTGAAATGGTTTATCTTACCTGGATTGTTTATCACTTGTTGAAGATCCATTTTCAACTTCCATATATTTATTTACAGTGTTGCTTCTCCTTGTAGTTTCCTTGATTCCTCAAAACTCCTTTTAAGAATTCTTGAAGA... | pathogenic | 133,717 |
Is chromosome 8, position 31154621, gene WRN (WRN RecQ like helicase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Werner_syndrome'] | ATAGGAAGATATAAATAGAAAAGGCAATAAGGACAAAAGTTGGCAAAGCTTACCTAAGCACTCTTCAGATAAAAAGACATTTTTGCTAACTAGATTTGAATATTATAGTTTAATTGTCAAGGAAAATGCCTCAACTTAATCTTTGTTAAGAGACTACTTAAGGCACTATCAGAAGTTCCCTCATGGCAAGGTGCAATCCCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGGTTACCTGAGGCCAGGAGTTAGAAAACAACCTGGGAAACATAGTGAGACCCGACCTCTACAAAAACAATTTCTTAAA... | ATAGGAAGATATAAATAGAAAAGGCAATAAGGACAAAAGTTGGCAAAGCTTACCTAAGCACTCTTCAGATAAAAAGACATTTTTGCTAACTAGATTTGAATATTATAGTTTAATTGTCAAGGAAAATGCCTCAACTTAATCTTTGTTAAGAGACTACTTAAGGCACTATCAGAAGTTCCCTCATGGCAAGGTGCAATCCCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGGTTACCTGAGGCCAGGAGTTAGAAAACAACCTGGGAAACATAGTGAGACCCGACCTCTACAAAAACAATTTCTTAAA... | pathogenic | 133,720 |
Variant on chromosome 8, at position 31154643, affecting WRN (WRN RecQ like helicase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Werner_syndrome'] | GGCAATAAGGACAAAAGTTGGCAAAGCTTACCTAAGCACTCTTCAGATAAAAAGACATTTTTGCTAACTAGATTTGAATATTATAGTTTAATTGTCAAGGAAAATGCCTCAACTTAATCTTTGTTAAGAGACTACTTAAGGCACTATCAGAAGTTCCCTCATGGCAAGGTGCAATCCCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGGTTACCTGAGGCCAGGAGTTAGAAAACAACCTGGGAAACATAGTGAGACCCGACCTCTACAAAAACAATTTCTTAAAATTAGCCAGGCATGGTGGTGCT... | GGCAATAAGGACAAAAGTTGGCAAAGCTTACCTAAGCACTCTTCAGATAAAAAGACATTTTTGCTAACTAGATTTGAATATTATAGTTTAATTGTCAAGGAAAATGCCTCAACTTAATCTTTGTTAAGAGACTACTTAAGGCACTATCAGAAGTTCCCTCATGGCAAGGTGCAATCCCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGGTTACCTGAGGCCAGGAGTTAGAAAACAACCTGGGAAACATAGTGAGACCCGACCTCTACAAAAACAATTTCTTAAAATTAGCCAGGCATGGTGGTGCT... | pathogenic | 133,722 |
A mutation at chromosome position 31154661 on chromosome 8 in gene WRN (WRN RecQ like helicase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Werner_syndrome'] | TGGCAAAGCTTACCTAAGCACTCTTCAGATAAAAAGACATTTTTGCTAACTAGATTTGAATATTATAGTTTAATTGTCAAGGAAAATGCCTCAACTTAATCTTTGTTAAGAGACTACTTAAGGCACTATCAGAAGTTCCCTCATGGCAAGGTGCAATCCCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGGTTACCTGAGGCCAGGAGTTAGAAAACAACCTGGGAAACATAGTGAGACCCGACCTCTACAAAAACAATTTCTTAAAATTAGCCAGGCATGGTGGTGCTAGCCTGTAATCCCAGCTA... | TGGCAAAGCTTACCTAAGCACTCTTCAGATAAAAAGACATTTTTGCTAACTAGATTTGAATATTATAGTTTAATTGTCAAGGAAAATGCCTCAACTTAATCTTTGTTAAGAGACTACTTAAGGCACTATCAGAAGTTCCCTCATGGCAAGGTGCAATCCCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGGTTACCTGAGGCCAGGAGTTAGAAAACAACCTGGGAAACATAGTGAGACCCGACCTCTACAAAAACAATTTCTTAAAATTAGCCAGGCATGGTGGTGCTAGCCTGTAATCCCAGCTA... | pathogenic | 133,724 |
Is the genetic variant on chromosome 8, position 31157517, gene WRN (WRN RecQ like helicase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Werner_syndrome'] | AAAATTAGCTGGGCGTAGTGACGCATGCCTGTAATCCCAGATACTTGGGAGGCGGAGACATGGGACTTGCATGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGACACTGCATTCCAACCTGGGCGACCGAGCAAGACTCGGTCTCCAAAAAAAAAAAAAAAAAAGACCATATGTAATGTTTCTTCATTGTTCTAAGATAAATCTTTAAGGCTGTTGAGGTTTTTTGTATACAAAATGGAGAGTAAGTTTTAATGGGATGGGACAAAATGAGGCTTACAGTTGAGTTTAATTTGAGTTCACATCCTGTTGACA... | AAAATTAGCTGGGCGTAGTGACGCATGCCTGTAATCCCAGATACTTGGGAGGCGGAGACATGGGACTTGCATGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGACACTGCATTCCAACCTGGGCGACCGAGCAAGACTCGGTCTCCAAAAAAAAAAAAAAAAAAGACCATATGTAATGTTTCTTCATTGTTCTAAGATAAATCTTTAAGGCTGTTGAGGTTTTTTGTATACAAAATGGAGAGTAAGTTTTAATGGGATGGGACAAAATGAGGCTTACAGTTGAGTTTAATTTGAGTTCACATCCTGTTGACA... | pathogenic | 133,728 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 31167003, gene WRN (WRN RecQ like helicase). What disease(s) is it linked to if pathogenic? | benign | ATATAAAGGGTACTTATAGAAATGTATTAGAAAAATATATGAATTTTTAACTTATATCTAGAAGTTAACTTTATACATTTAACTTTAAATCATTAATAGTGGTTTAACACCATAAGCGGATGTTTATGCATCATCATTTTATGAACAAAAGACATTCTAATTTTAGAAATAAAGTGATTCAAAAGAGAATAAAATATCTTACTTTTTCTTTTAAAATTAATTTGTTTAGCGCATTACATGATAATAGCTCAAGCTTGTGTGATTTTTCCCTAAAAAATTGGTTTATAAATATTACATTTATAGTATGAAGAAATTAATCA... | ATATAAAGGGTACTTATAGAAATGTATTAGAAAAATATATGAATTTTTAACTTATATCTAGAAGTTAACTTTATACATTTAACTTTAAATCATTAATAGTGGTTTAACACCATAAGCGGATGTTTATGCATCATCATTTTATGAACAAAAGACATTCTAATTTTAGAAATAAAGTGATTCAAAAGAGAATAAAATATCTTACTTTTTCTTTTAAAATTAATTTGTTTAGCGCATTACATGATAATAGCTCAAGCTTGTGTGATTTTTCCCTAAAAAATTGGTTTATAAATATTACATTTATAGTATGAAGAAATTAATCA... | benign | 133,732 |
Is the genetic change at chromosome 8, position 31167146, within gene WRN (WRN RecQ like helicase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Werner_syndrome'] | AACAAAAGACATTCTAATTTTAGAAATAAAGTGATTCAAAAGAGAATAAAATATCTTACTTTTTCTTTTAAAATTAATTTGTTTAGCGCATTACATGATAATAGCTCAAGCTTGTGTGATTTTTCCCTAAAAAATTGGTTTATAAATATTACATTTATAGTATGAAGAAATTAATCATACATAGTTTATTTATCTAATTTCTAAATACCCATGGAAGAAAATGAATTTAATGGAATGTAGTTGTGTATTACTTGGTTTCGAGTGTGGGAAAATTTATATGGTCTTTCTAAAACAGCACTGTCAGTAGAAATACAATGTGA... | AACAAAAGACATTCTAATTTTAGAAATAAAGTGATTCAAAAGAGAATAAAATATCTTACTTTTTCTTTTAAAATTAATTTGTTTAGCGCATTACATGATAATAGCTCAAGCTTGTGTGATTTTTCCCTAAAAAATTGGTTTATAAATATTACATTTATAGTATGAAGAAATTAATCATACATAGTTTATTTATCTAATTTCTAAATACCCATGGAAGAAAATGAATTTAATGGAATGTAGTTGTGTATTACTTGGTTTCGAGTGTGGGAAAATTTATATGGTCTTTCTAAAACAGCACTGTCAGTAGAAATACAATGTGA... | pathogenic | 133,737 |
A genetic alteration at chromosome 8, position 37766281, in gene PLPBP (pyridoxal phosphate binding protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | GCTGGGATTACAGGCACACACCACCACACCTGGCTAATTTTTTGTGTATTTTTAGTAGAGACAGGGTTTCATTATGTTGGCCAGACTGTTGTTTTTTGTTTTATTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAGCCTCAGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTTAGCTTCCCAAGTAGCTCGGATTACAGATGCCCACCACCACACCTGGCTAAGTTTTAGTATTTTAATAGAGATGGGGTTTCACCTTTTGGCCAGGCTGGTCTCGAACTCGTAACT... | GCTGGGATTACAGGCACACACCACCACACCTGGCTAATTTTTTGTGTATTTTTAGTAGAGACAGGGTTTCATTATGTTGGCCAGACTGTTGTTTTTTGTTTTATTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAGCCTCAGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTTAGCTTCCCAAGTAGCTCGGATTACAGATGCCCACCACCACACCTGGCTAAGTTTTAGTATTTTAATAGAGATGGGGTTTCACCTTTTGGCCAGGCTGGTCTCGAACTCGTAACT... | pathogenic | 133,791 |
Gene mutation in STAR (steroidogenic acute regulatory protein) at chromosome 8, position 38144319—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency'] | AGACTGGTTTCGAATTGCCCTCCAGCAATTCTCCCACCTCAGCCTTCAGAGTAGCTGGCATTGTGGGTAGGCACCACTGTGCCCAGCTCCTGTTTTATAATAAATAAGCCAGAGCTCTATCTCCAAATGGTGCAAATCATCAATGCTATTAAAACAAGAATGGAAAAGCTTCAGGTGGTAATGGTGATTTTTTCATCCTCCCTACCCCCCTCCCATCCCAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAATTTTTTTTTTTTTTTTAAGACAGCCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCT... | AGACTGGTTTCGAATTGCCCTCCAGCAATTCTCCCACCTCAGCCTTCAGAGTAGCTGGCATTGTGGGTAGGCACCACTGTGCCCAGCTCCTGTTTTATAATAAATAAGCCAGAGCTCTATCTCCAAATGGTGCAAATCATCAATGCTATTAAAACAAGAATGGAAAAGCTTCAGGTGGTAATGGTGATTTTTTCATCCTCCCTACCCCCCTCCCATCCCAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAATTTTTTTTTTTTTTTTAAGACAGCCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCT... | pathogenic | 133,820 |
Regarding the variant found on chromosome 8 at position 38144373 in gene STAR (steroidogenic acute regulatory protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency'] | CTGGCATTGTGGGTAGGCACCACTGTGCCCAGCTCCTGTTTTATAATAAATAAGCCAGAGCTCTATCTCCAAATGGTGCAAATCATCAATGCTATTAAAACAAGAATGGAAAAGCTTCAGGTGGTAATGGTGATTTTTTCATCCTCCCTACCCCCCTCCCATCCCAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAATTTTTTTTTTTTTTTTAAGACAGCCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCGATCTTGGCTCACTTCAACCTCCGCCTCCCGGGTTCAGGCGATTCTCCTGCCT... | CTGGCATTGTGGGTAGGCACCACTGTGCCCAGCTCCTGTTTTATAATAAATAAGCCAGAGCTCTATCTCCAAATGGTGCAAATCATCAATGCTATTAAAACAAGAATGGAAAAGCTTCAGGTGGTAATGGTGATTTTTTCATCCTCCCTACCCCCCTCCCATCCCAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAATTTTTTTTTTTTTTTTAAGACAGCCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCGATCTTGGCTCACTTCAACCTCCGCCTCCCGGGTTCAGGCGATTCTCCTGCCT... | pathogenic | 133,824 |
Located at chromosome 8 position 38145246, the variant affecting gene STAR (steroidogenic acute regulatory protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency'] | TAATTTCCCAGTAGTTCCTTTCCTTTTAATGAGCCTTAATTTAGTTTGACTAATTAAAAGCTTTGTCCAGAACTCCTCTAGTGTGAAGTTGTAATCTACTAGCATAGATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCACGCTGGAGCGCAGTGGCACAATCTCGGCCCACTACAACCTCCGCCTCCGGGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGCTACGACTACAGGTTTGCGCCACCACACCCAGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAG... | TAATTTCCCAGTAGTTCCTTTCCTTTTAATGAGCCTTAATTTAGTTTGACTAATTAAAAGCTTTGTCCAGAACTCCTCTAGTGTGAAGTTGTAATCTACTAGCATAGATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCACGCTGGAGCGCAGTGGCACAATCTCGGCCCACTACAACCTCCGCCTCCGGGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGCTACGACTACAGGTTTGCGCCACCACACCCAGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAG... | pathogenic | 133,827 |
Clinically, how would you classify the variant at chromosome 8, position 38145251, gene STAR (steroidogenic acute regulatory protein): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency'] | TCCCAGTAGTTCCTTTCCTTTTAATGAGCCTTAATTTAGTTTGACTAATTAAAAGCTTTGTCCAGAACTCCTCTAGTGTGAAGTTGTAATCTACTAGCATAGATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCACGCTGGAGCGCAGTGGCACAATCTCGGCCCACTACAACCTCCGCCTCCGGGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGCTACGACTACAGGTTTGCGCCACCACACCCAGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGG... | TCCCAGTAGTTCCTTTCCTTTTAATGAGCCTTAATTTAGTTTGACTAATTAAAAGCTTTGTCCAGAACTCCTCTAGTGTGAAGTTGTAATCTACTAGCATAGATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCACGCTGGAGCGCAGTGGCACAATCTCGGCCCACTACAACCTCCGCCTCCGGGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGCTACGACTACAGGTTTGCGCCACCACACCCAGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGG... | pathogenic | 133,828 |
Determine whether the variant at chromosome 8, position 38145270, in gene STAR (steroidogenic acute regulatory protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency'] | TTTAATGAGCCTTAATTTAGTTTGACTAATTAAAAGCTTTGTCCAGAACTCCTCTAGTGTGAAGTTGTAATCTACTAGCATAGATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCACGCTGGAGCGCAGTGGCACAATCTCGGCCCACTACAACCTCCGCCTCCGGGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGCTACGACTACAGGTTTGCGCCACCACACCCAGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTG... | TTTAATGAGCCTTAATTTAGTTTGACTAATTAAAAGCTTTGTCCAGAACTCCTCTAGTGTGAAGTTGTAATCTACTAGCATAGATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCACGCTGGAGCGCAGTGGCACAATCTCGGCCCACTACAACCTCCGCCTCCGGGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGCTACGACTACAGGTTTGCGCCACCACACCCAGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTG... | pathogenic | 133,829 |
Evaluate this variant at chromosome 8, position 38145288, gene STAR (steroidogenic acute regulatory protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency'] | AGTTTGACTAATTAAAAGCTTTGTCCAGAACTCCTCTAGTGTGAAGTTGTAATCTACTAGCATAGATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCACGCTGGAGCGCAGTGGCACAATCTCGGCCCACTACAACCTCCGCCTCCGGGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGCTACGACTACAGGTTTGCGCCACCACACCCAGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTACCTCAGC... | AGTTTGACTAATTAAAAGCTTTGTCCAGAACTCCTCTAGTGTGAAGTTGTAATCTACTAGCATAGATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCACGCTGGAGCGCAGTGGCACAATCTCGGCCCACTACAACCTCCGCCTCCGGGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGCTACGACTACAGGTTTGCGCCACCACACCCAGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTACCTCAGC... | pathogenic | 133,830 |
Regarding the variant at chromosome 8 and position 38145982, affecting gene STAR (steroidogenic acute regulatory protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency'] | CCCCACACCCATATCAGCCACTAGCATTTTAAAGATGGTTTTAGGTGGGTACATAAGGGCCCAGAAAAAAAGTTTTACAATTATTTTAGGGGCCTGAACCCTCATGTCATAGCTAATCAGTGAATGAAGTTACCTTTTAATCCAAGAGCCTCATCCCTGTTTTCTTGGTACTAAAAACTTTCACCAATCTGAATCCTAGTGTCATACTCTAAACACGAACCCCACCCATCCCACTGTCACCAGATGGAGATCTTAGACTTGCAGGCTTCCAGTAGGGATTCTCCTGATGAGCGTGTGTACCAGTGCAGCTGGGCACAGTT... | CCCCACACCCATATCAGCCACTAGCATTTTAAAGATGGTTTTAGGTGGGTACATAAGGGCCCAGAAAAAAAGTTTTACAATTATTTTAGGGGCCTGAACCCTCATGTCATAGCTAATCAGTGAATGAAGTTACCTTTTAATCCAAGAGCCTCATCCCTGTTTTCTTGGTACTAAAAACTTTCACCAATCTGAATCCTAGTGTCATACTCTAAACACGAACCCCACCCATCCCACTGTCACCAGATGGAGATCTTAGACTTGCAGGCTTCCAGTAGGGATTCTCCTGATGAGCGTGTGTACCAGTGCAGCTGGGCACAGTT... | pathogenic | 133,833 |
Variant at chromosome position 38146346, chromosome 8, gene STAR (steroidogenic acute regulatory protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency'] | TGGGACTCCAGGCGCTTGCGCAGGTGGTTGGCAAAATCCACCTGGGTCTGGGACAGGACCTGGTTGATGATGCTCTTGGGCAGCCACCCCTGCAGTAGGAGGTAGGAGAATTTGGCCATCTTGTGGGTTTTGGCCCACTCTTGACACTGCACCCTATCACAAACAGGCTGCCAGGGGCTTGGTCTTCGAGCTCTGTTAATAGGTGCAGCCTTGGAGTTGCCCAGTCAAGGGCGGGAGGACTGCATTGCTCCTCTGCTGTCATGACTTTCAGAAGCACAAGACTGGCCAACAAGATGTTTCAGCCTGGTGTTCCCAGCTGT... | TGGGACTCCAGGCGCTTGCGCAGGTGGTTGGCAAAATCCACCTGGGTCTGGGACAGGACCTGGTTGATGATGCTCTTGGGCAGCCACCCCTGCAGTAGGAGGTAGGAGAATTTGGCCATCTTGTGGGTTTTGGCCCACTCTTGACACTGCACCCTATCACAAACAGGCTGCCAGGGGCTTGGTCTTCGAGCTCTGTTAATAGGTGCAGCCTTGGAGTTGCCCAGTCAAGGGCGGGAGGACTGCATTGCTCCTCTGCTGTCATGACTTTCAGAAGCACAAGACTGGCCAACAAGATGTTTCAGCCTGGTGTTCCCAGCTGT... | pathogenic | 133,846 |
The chromosome 8, position 38148206 genetic variant in gene STAR (steroidogenic acute regulatory protein): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency'] | ATGGGGAACCAGAATCACGACTCAGCCTGTGTTGGGCTAAGCACCCCCCACAGCTAGGGGTCCTCTCTTTGATACAGCATTCACACTGGGCTCTCCTGGGCCCCTGCCACCTGCACCTGGACTTTGCTCACCTTGATCTCCTTGACATTGGGGTTCCACTCCCCCATTGCTTCCATGCGCTCCACGAGCTCTTCATAGAGCCTCTCCATGGGCTGGTCCACCACGACCTCCAGCCGGAACACCTTGCCCACATCTGGGACCACTTTACTCATCACTTTGTCCCCATTGTCCTGTCAGAGAAAGGAGCCCCCAGAAGGTGG... | ATGGGGAACCAGAATCACGACTCAGCCTGTGTTGGGCTAAGCACCCCCCACAGCTAGGGGTCCTCTCTTTGATACAGCATTCACACTGGGCTCTCCTGGGCCCCTGCCACCTGCACCTGGACTTTGCTCACCTTGATCTCCTTGACATTGGGGTTCCACTCCCCCATTGCTTCCATGCGCTCCACGAGCTCTTCATAGAGCCTCTCCATGGGCTGGTCCACCACGACCTCCAGCCGGAACACCTTGCCCACATCTGGGACCACTTTACTCATCACTTTGTCCCCATTGTCCTGTCAGAGAAAGGAGCCCCCAGAAGGTGG... | pathogenic | 133,851 |
For chromosome 8, position 38148303, gene STAR (steroidogenic acute regulatory protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency'] | GGGCCCCTGCCACCTGCACCTGGACTTTGCTCACCTTGATCTCCTTGACATTGGGGTTCCACTCCCCCATTGCTTCCATGCGCTCCACGAGCTCTTCATAGAGCCTCTCCATGGGCTGGTCCACCACGACCTCCAGCCGGAACACCTTGCCCACATCTGGGACCACTTTACTCATCACTTTGTCCCCATTGTCCTGTCAGAGAAAGGAGCCCCCAGAAGGTGGTTAGACAAAAATATTCTTGGCCGGGCATGGTGGTTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACAAGGTCAGGAGTTCG... | GGGCCCCTGCCACCTGCACCTGGACTTTGCTCACCTTGATCTCCTTGACATTGGGGTTCCACTCCCCCATTGCTTCCATGCGCTCCACGAGCTCTTCATAGAGCCTCTCCATGGGCTGGTCCACCACGACCTCCAGCCGGAACACCTTGCCCACATCTGGGACCACTTTACTCATCACTTTGTCCCCATTGTCCTGTCAGAGAAAGGAGCCCCCAGAAGGTGGTTAGACAAAAATATTCTTGGCCGGGCATGGTGGTTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACAAGGTCAGGAGTTCG... | pathogenic | 133,853 |
Located at chromosome 8 position 38148683, the variant affecting gene STAR (steroidogenic acute regulatory protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency'] | CATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGCACGGCAGAGGTTGCAGTGAGTGGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTTGTCTCAAAAAAAAAAATTTTATATATATATATATATTCTTAGTCTAGGTCCCATAGGCAATACAAGGCAAGATGGGGAGGGGAACAGCAAAGGAACTCCAAGTTGAGCACGAGGAAGCCTGGAACTGTCCTAAGATAGAGTCGGTAATCATTGTTGCCATGGCCTTGTGCATCTGCTGACAACTGGAGGAAG... | CATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGCACGGCAGAGGTTGCAGTGAGTGGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTTGTCTCAAAAAAAAAAATTTTATATATATATATATATTCTTAGTCTAGGTCCCATAGGCAATACAAGGCAAGATGGGGAGGGGAACAGCAAAGGAACTCCAAGTTGAGCACGAGGAAGCCTGGAACTGTCCTAAGATAGAGTCGGTAATCATTGTTGCCATGGCCTTGTGCATCTGCTGACAACTGGAGGAAG... | pathogenic | 133,859 |
Is the genetic variant on chromosome 8, position 38148693, gene STAR (steroidogenic acute regulatory protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency'] | GGCGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGCACGGCAGAGGTTGCAGTGAGTGGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTTGTCTCAAAAAAAAAAATTTTATATATATATATATATTCTTAGTCTAGGTCCCATAGGCAATACAAGGCAAGATGGGGAGGGGAACAGCAAAGGAACTCCAAGTTGAGCACGAGGAAGCCTGGAACTGTCCTAAGATAGAGTCGGTAATCATTGTTGCCATGGCCTTGTGCATCTGCTGACAACTGGAGGAAGTTACCTGCTG... | GGCGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGCACGGCAGAGGTTGCAGTGAGTGGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTTGTCTCAAAAAAAAAAATTTTATATATATATATATATTCTTAGTCTAGGTCCCATAGGCAATACAAGGCAAGATGGGGAGGGGAACAGCAAAGGAACTCCAAGTTGAGCACGAGGAAGCCTGGAACTGTCCTAAGATAGAGTCGGTAATCATTGTTGCCATGGCCTTGTGCATCTGCTGACAACTGGAGGAAGTTACCTGCTG... | pathogenic | 133,860 |
Mutation at chromosome 8, position 38150785, within STAR (steroidogenic acute regulatory protein): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | CAGCCTGTTGCCTCAGCCCTGCAGAAGGGAATAACCCTTGTCTAGGAGCTGGAAAGCCCCTTAGAGATGGACCACTCCCACCCCCTCATCTTGTCTCAAATGAGTAAGTTGGTTTGGAGAGGGAAGTGACTTGCTCAGGAGCACACAGGATTCTAGCAGGGACCTGAACTAGAGCCAGGCCCTCAACTCCCATGGCAGTGCTCCAGGGTCCAGAAATCTGCCTTCCATCTGGGGTGGTCAGGCCTGGCCCTGCCTGGAGATGGGCTATACCAGAGCCTGCTGGAGTTTCTGTCTCTAAAAGGGGAAAAAGCTGTGTTCAA... | CAGCCTGTTGCCTCAGCCCTGCAGAAGGGAATAACCCTTGTCTAGGAGCTGGAAAGCCCCTTAGAGATGGACCACTCCCACCCCCTCATCTTGTCTCAAATGAGTAAGTTGGTTTGGAGAGGGAAGTGACTTGCTCAGGAGCACACAGGATTCTAGCAGGGACCTGAACTAGAGCCAGGCCCTCAACTCCCATGGCAGTGCTCCAGGGTCCAGAAATCTGCCTTCCATCTGGGGTGGTCAGGCCTGGCCCTGCCTGGAGATGGGCTATACCAGAGCCTGCTGGAGTTTCTGTCTCTAAAAGGGGAAAAAGCTGTGTTCAA... | pathogenic | 133,866 |
Is the genetic variant on chromosome 8, position 38414856, gene FGFR1 (fibroblast growth factor receptor 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hypogonadotropic_hypogonadism_2_with_or_without_anosmia'] | AAGTAGCAAAAAATATATGACCTTTTTAAAAACATTTTCCTTTTTTTTCTTTTTTGTTTTTAATATATAGCAACTGATGCCTCCCAGCCACCAGGAGCATCTTACCCGATGGGTAAATCTCTGGTAACGACCCTTTTAAAAAGACATGTAAATATATACTCAGATTTATACACTTTGTGTTTTCTTCATAGCTATATACAGAGCCCCCAGTTTGGGGCTGGGCCCCAGGGCCACAACACTGCCCCCAACCTGGCCTTCGCCTCACCATCCTCTGGTACCAGGCATTTGGTCAGCAAAGCAAACTAGTATCGGAATTAATA... | AAGTAGCAAAAAATATATGACCTTTTTAAAAACATTTTCCTTTTTTTTCTTTTTTGTTTTTAATATATAGCAACTGATGCCTCCCAGCCACCAGGAGCATCTTACCCGATGGGTAAATCTCTGGTAACGACCCTTTTAAAAAGACATGTAAATATATACTCAGATTTATACACTTTGTGTTTTCTTCATAGCTATATACAGAGCCCCCAGTTTGGGGCTGGGCCCCAGGGCCACAACACTGCCCCCAACCTGGCCTTCGCCTCACCATCCTCTGGTACCAGGCATTTGGTCAGCAAAGCAAACTAGTATCGGAATTAATA... | pathogenic | 133,938 |
Clinical impact (benign or pathogenic) of the variant at chromosome 8, location 38414911, gene FGFR1 (fibroblast growth factor receptor 1): what disease(s) if pathogenic? | benign | GTTTTTAATATATAGCAACTGATGCCTCCCAGCCACCAGGAGCATCTTACCCGATGGGTAAATCTCTGGTAACGACCCTTTTAAAAAGACATGTAAATATATACTCAGATTTATACACTTTGTGTTTTCTTCATAGCTATATACAGAGCCCCCAGTTTGGGGCTGGGCCCCAGGGCCACAACACTGCCCCCAACCTGGCCTTCGCCTCACCATCCTCTGGTACCAGGCATTTGGTCAGCAAAGCAAACTAGTATCGGAATTAATAAGCCACTGGCACCACCTATCTGGGGCAGAGGTCACCTTCAATCGAGGCACGAAGC... | GTTTTTAATATATAGCAACTGATGCCTCCCAGCCACCAGGAGCATCTTACCCGATGGGTAAATCTCTGGTAACGACCCTTTTAAAAAGACATGTAAATATATACTCAGATTTATACACTTTGTGTTTTCTTCATAGCTATATACAGAGCCCCCAGTTTGGGGCTGGGCCCCAGGGCCACAACACTGCCCCCAACCTGGCCTTCGCCTCACCATCCTCTGGTACCAGGCATTTGGTCAGCAAAGCAAACTAGTATCGGAATTAATAAGCCACTGGCACCACCTATCTGGGGCAGAGGTCACCTTCAATCGAGGCACGAAGC... | benign | 133,941 |
Gene FGFR1 (fibroblast growth factor receptor 1) variant at chromosome 8, position 38417362—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hartsfield-Bixler-Demyer_syndrome'] | GACAGGGCCTTGCTCTGTCGCCCCGGCTGGGGTGCAGTGGTGTGATCATGGCTCAGTGCAGCCTCAAACTCTTGGGCTCAAGCTAGCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTATCGGCACGCACTACCACACCCAGCTAATTTTTTAATTTTTTTTTTTTTTTTAAAGACGGGGTTTCAATATATTGCCCAACCTGGTCTCACACTCCTGAGCTCAAGCAATCCTCCCGCCTTGGCCACTGCACCCAGCTGATATTATTATTATTTTGTATTTGAAGAATTTTAAGATGCTAAGTAGCTGCCTGAGGCTACGC... | GACAGGGCCTTGCTCTGTCGCCCCGGCTGGGGTGCAGTGGTGTGATCATGGCTCAGTGCAGCCTCAAACTCTTGGGCTCAAGCTAGCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTATCGGCACGCACTACCACACCCAGCTAATTTTTTAATTTTTTTTTTTTTTTTAAAGACGGGGTTTCAATATATTGCCCAACCTGGTCTCACACTCCTGAGCTCAAGCAATCCTCCCGCCTTGGCCACTGCACCCAGCTGATATTATTATTATTTTGTATTTGAAGAATTTTAAGATGCTAAGTAGCTGCCTGAGGCTACGC... | pathogenic | 133,946 |
Is the genetic mutation found on chromosome 8 at position 38421839, within the gene FGFR1 (fibroblast growth factor receptor 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Delayed_puberty', 'Hypogonadotropic_hypogonadism_2_with_or_without_anosmia', 'Hypogonadotropic_hypogonadism_7_with_or_without_anosmia', 'Pfeiffer_syndrome'] | TCCCGCTCCATTAGAAAAGCAACACCTGTCTCCTGTCCCCTGGGAACTTTTAGGGAGAAGAACCATGGCAAGTTCTAGCTAGGACTGGGATTGTGGCACTAGGAGGATCAGGCAACCCCCTGATTTTGGAGGCTGCCTTCAATGGACTTGAGCCATGGAAAAGGGATGGCCTAGAACCATCGTGCTACACAAGCCCCATCTTCATTAATTCCTGAGCCTCCTTGCTCAGCTGGACTGGAGAGGTACAGGCACCCAGGGATCCTGCAAGGGCCAGCTGAGAAGTCACTTCTATGTGCCTTTCTTGGTCTCCTCAGGGAGCC... | TCCCGCTCCATTAGAAAAGCAACACCTGTCTCCTGTCCCCTGGGAACTTTTAGGGAGAAGAACCATGGCAAGTTCTAGCTAGGACTGGGATTGTGGCACTAGGAGGATCAGGCAACCCCCTGATTTTGGAGGCTGCCTTCAATGGACTTGAGCCATGGAAAAGGGATGGCCTAGAACCATCGTGCTACACAAGCCCCATCTTCATTAATTCCTGAGCCTCCTTGCTCAGCTGGACTGGAGAGGTACAGGCACCCAGGGATCCTGCAAGGGCCAGCTGAGAAGTCACTTCTATGTGCCTTTCTTGGTCTCCTCAGGGAGCC... | pathogenic | 133,961 |
The genetic variant at chromosome 8, position 38421914, affecting gene FGFR1 (fibroblast growth factor receptor 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hypogonadotropic_hypogonadism_2_with_or_without_anosmia'] | TAGCTAGGACTGGGATTGTGGCACTAGGAGGATCAGGCAACCCCCTGATTTTGGAGGCTGCCTTCAATGGACTTGAGCCATGGAAAAGGGATGGCCTAGAACCATCGTGCTACACAAGCCCCATCTTCATTAATTCCTGAGCCTCCTTGCTCAGCTGGACTGGAGAGGTACAGGCACCCAGGGATCCTGCAAGGGCCAGCTGAGAAGTCACTTCTATGTGCCTTTCTTGGTCTCCTCAGGGAGCCATGGCCCTTCTCTGCAAAGCCTCAGCACTGTGTGCATGCACTTAACATGCGGGGACACAGATGTTTCTGAGTCCT... | TAGCTAGGACTGGGATTGTGGCACTAGGAGGATCAGGCAACCCCCTGATTTTGGAGGCTGCCTTCAATGGACTTGAGCCATGGAAAAGGGATGGCCTAGAACCATCGTGCTACACAAGCCCCATCTTCATTAATTCCTGAGCCTCCTTGCTCAGCTGGACTGGAGAGGTACAGGCACCCAGGGATCCTGCAAGGGCCAGCTGAGAAGTCACTTCTATGTGCCTTTCTTGGTCTCCTCAGGGAGCCATGGCCCTTCTCTGCAAAGCCTCAGCACTGTGTGCATGCACTTAACATGCGGGGACACAGATGTTTCTGAGTCCT... | pathogenic | 133,963 |
Benign or pathogenic: chromosome 8, position 38428395, gene FGFR1 (fibroblast growth factor receptor 1) variant? Disease(s) if pathogenic? | benign | TGGTGGCACAGGGCCCCAGGCTGCAGGGTTGGCTAGGACAAGGCGTGGATTGCCCCCCTACCAGCCCGTTCACACTCTGCAAGCTGGCAGATGGGGTGTAAAGACTCCAGAAGTCTCCACTGTGACGTTCAAGATCATTCGTGATCCGGACAGATGTGCCTTCTGCAAACACTCCCAAATACACCAAGAATGTTCCCAACTGTGCACCTCTCCTATTACACTAAGAATCCAGCCCCCACTGTCCTTGACAGCTCATTTCAAAAACCATCTCCTCCAGTCCAGTCTCTGGTCAGAACTGTGCTCACCCTTTCCTCTCTGCC... | TGGTGGCACAGGGCCCCAGGCTGCAGGGTTGGCTAGGACAAGGCGTGGATTGCCCCCCTACCAGCCCGTTCACACTCTGCAAGCTGGCAGATGGGGTGTAAAGACTCCAGAAGTCTCCACTGTGACGTTCAAGATCATTCGTGATCCGGACAGATGTGCCTTCTGCAAACACTCCCAAATACACCAAGAATGTTCCCAACTGTGCACCTCTCCTATTACACTAAGAATCCAGCCCCCACTGTCCTTGACAGCTCATTTCAAAAACCATCTCCTCCAGTCCAGTCTCTGGTCAGAACTGTGCTCACCCTTTCCTCTCTGCC... | benign | 133,986 |
Clinical classification of chromosome 8, position 38428441, gene FGFR1 (fibroblast growth factor receptor 1): benign or pathogenic? Disease(s) if pathogenic? | benign | GGATTGCCCCCCTACCAGCCCGTTCACACTCTGCAAGCTGGCAGATGGGGTGTAAAGACTCCAGAAGTCTCCACTGTGACGTTCAAGATCATTCGTGATCCGGACAGATGTGCCTTCTGCAAACACTCCCAAATACACCAAGAATGTTCCCAACTGTGCACCTCTCCTATTACACTAAGAATCCAGCCCCCACTGTCCTTGACAGCTCATTTCAAAAACCATCTCCTCCAGTCCAGTCTCTGGTCAGAACTGTGCTCACCCTTTCCTCTCTGCCTACCAAAGCACTGATCACAGTCTACTTTTTACGGTAGCTGCTCATG... | GGATTGCCCCCCTACCAGCCCGTTCACACTCTGCAAGCTGGCAGATGGGGTGTAAAGACTCCAGAAGTCTCCACTGTGACGTTCAAGATCATTCGTGATCCGGACAGATGTGCCTTCTGCAAACACTCCCAAATACACCAAGAATGTTCCCAACTGTGCACCTCTCCTATTACACTAAGAATCCAGCCCCCACTGTCCTTGACAGCTCATTTCAAAAACCATCTCCTCCAGTCCAGTCTCTGGTCAGAACTGTGCTCACCCTTTCCTCTCTGCCTACCAAAGCACTGATCACAGTCTACTTTTTACGGTAGCTGCTCATG... | benign | 133,989 |
Mutation found at chromosome 8 position 38429792, gene FGFR1 (fibroblast growth factor receptor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hypogonadotropic_hypogonadism_2_with_or_without_anosmia', 'Pfeiffer_syndrome'] | AGAAGACTGAAGAAATGTTTAAACTTTATTTGCATTTTTTTGTATTTAAAAATTTTAATGAATAACCTGTATAGGTGGAAAGTATTACTTAAAAAAATGAAAAGCATGTAATCAGGACTTCCTAACTCGGCCTCCCCTGTTCCCATTACTCTAACTTTCGCATGCACACACACGTACCTTGTAGCCTCCAATTCTGTGGTCAGGTTTGAATTCTTTGCCATTTTTCAACCAGCGCAGTGTGGGGTTTGGGGTCCCACTGGAAGGGCATTTGAACTTCACTGTCTTGGCAGCCGGCACTGCATGCAATTTCTTTTCCATCT... | AGAAGACTGAAGAAATGTTTAAACTTTATTTGCATTTTTTTGTATTTAAAAATTTTAATGAATAACCTGTATAGGTGGAAAGTATTACTTAAAAAAATGAAAAGCATGTAATCAGGACTTCCTAACTCGGCCTCCCCTGTTCCCATTACTCTAACTTTCGCATGCACACACACGTACCTTGTAGCCTCCAATTCTGTGGTCAGGTTTGAATTCTTTGCCATTTTTCAACCAGCGCAGTGTGGGGTTTGGGGTCCCACTGGAAGGGCATTTGAACTTCACTGTCTTGGCAGCCGGCACTGCATGCAATTTCTTTTCCATCT... | pathogenic | 134,002 |
For chromosome 8, position 39026823, gene ADAM9 (ADAM metallopeptidase domain 9): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AATAAGTACATGTAGTATGTTAACCAATGATAAGTGGTAAGGAGAAAAATAAAACGGGAGGGTAGATATAAAAGCATTGGAGGTTGTGATTAAAATTTTAGATAAAAGTTTAGAAAAACAGTGTTATTCACTGTTGAATTTTGAGGTGACATGGTCTAGCCAGGGAGATGCCTTCTGAGTAAAGACCTGAAGGAGGTGAGGGAATGAGTCTGGGTTATATTAATATTAGGGAAGAGAGGTCCAGGCGGAGGGAACAGGTGCTGAGGTACAGGTGTGTGGGGTGTGACTGGGGAGGCACACAGGGCCCATCCTGAATTCTT... | AATAAGTACATGTAGTATGTTAACCAATGATAAGTGGTAAGGAGAAAAATAAAACGGGAGGGTAGATATAAAAGCATTGGAGGTTGTGATTAAAATTTTAGATAAAAGTTTAGAAAAACAGTGTTATTCACTGTTGAATTTTGAGGTGACATGGTCTAGCCAGGGAGATGCCTTCTGAGTAAAGACCTGAAGGAGGTGAGGGAATGAGTCTGGGTTATATTAATATTAGGGAAGAGAGGTCCAGGCGGAGGGAACAGGTGCTGAGGTACAGGTGTGTGGGGTGTGACTGGGGAGGCACACAGGGCCCATCCTGAATTCTT... | benign | 134,035 |
Does the variant impacting ADAM9 (ADAM metallopeptidase domain 9) on chromosome 8, position 39082624, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAGTTTTCACACGGCAGATAGGATCCTGTCCCTTCTGGTATGTACCAAAGCCTAGACTGGACAGTTTGAGCAGACTGACAACTTGGTACTTCTTCAGATCTGTATTCTTTATATATTTATTCAACATTTATTTCCAGGACAAGCTAAACGTGGGGTAGGGGGAAAAGTGGAAAATAAGAACTCCTCACCTTCATTTTTATTGTCCCAGGTAGTTCAATTTTGCTCCCCACTTGCATCCTGAAATCAGTAAACCAGAAGTCCTATAGTCAAGTTTGCTCTACTTGCTGCGTGGTGGTTGTTGGTGGTGGCCATGGGTGGTA... | AAGTTTTCACACGGCAGATAGGATCCTGTCCCTTCTGGTATGTACCAAAGCCTAGACTGGACAGTTTGAGCAGACTGACAACTTGGTACTTCTTCAGATCTGTATTCTTTATATATTTATTCAACATTTATTTCCAGGACAAGCTAAACGTGGGGTAGGGGGAAAAGTGGAAAATAAGAACTCCTCACCTTCATTTTTATTGTCCCAGGTAGTTCAATTTTGCTCCCCACTTGCATCCTGAAATCAGTAAACCAGAAGTCCTATAGTCAAGTTTGCTCTACTTGCTGCGTGGTGGTTGTTGGTGGTGGCCATGGGTGGTA... | benign | 134,045 |
Regarding the variant at chromosome 8 and position 41655404, affecting gene ANK1 (ankyrin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TTTTCATAACAATTAAAAAAATCAAGGTAATTTCAAAACTTCTAAAAAGCGTCTAATGTGCAGACTGCAGCATTCTCTAGGCATCGTGTGGAGACCCCAAACTCCTCCCCTAACGGCTCCTACTAGCAGCCGGAGCGTGCAGCCATGCCAGCCGGAGCAGAGGTGCCAAAGCGGAGTCTGGAGCTGCGGGGTCCGCGGGGGCGCTAAGGGGGCTACTGGGTTGGCTGCAGCAGCGACCTGGGAGAGGAAGGTGCAGGATCGAGGCGGGAGAGGCGAGCCCTGAGCCCAGCTTCCTTGGGCCGTCACCGAATCGGTCCCAG... | TTTTCATAACAATTAAAAAAATCAAGGTAATTTCAAAACTTCTAAAAAGCGTCTAATGTGCAGACTGCAGCATTCTCTAGGCATCGTGTGGAGACCCCAAACTCCTCCCCTAACGGCTCCTACTAGCAGCCGGAGCGTGCAGCCATGCCAGCCGGAGCAGAGGTGCCAAAGCGGAGTCTGGAGCTGCGGGGTCCGCGGGGGCGCTAAGGGGGCTACTGGGTTGGCTGCAGCAGCGACCTGGGAGAGGAAGGTGCAGGATCGAGGCGGGAGAGGCGAGCCCTGAGCCCAGCTTCCTTGGGCCGTCACCGAATCGGTCCCAG... | benign | 134,062 |
Evaluate this variant at chromosome 8, position 41672636, gene ANK1 (ankyrin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_spherocytosis_type_1'] | AAAAAAATTAAATCTTTGCTGTCTCAACTTCCAAACGACTTCCTTTCCCTTCCTGTTAGGGTATTGGGGCCAGGCTGCATGGATCCTGTGGAATGGCCCCACTAGCCTGGGCCTCAGGGTGGGACTGAGGGGTCACACAGGTGGGACTGAGGGGTCACACAGGTGGGGAAAGGACATGAGAACAGCTTTCCTTTACCTGACCAGTCCTGAGCTCCTTGGGGTGGGGGCCTGGAACAGCTGCCTGGGGGCACAAGAACCATGTCCTTACTTTAGGGAAAACTCAGCAAGCCAAGGTGACCTGGAGGAAAGGGGATTCCTCT... | AAAAAAATTAAATCTTTGCTGTCTCAACTTCCAAACGACTTCCTTTCCCTTCCTGTTAGGGTATTGGGGCCAGGCTGCATGGATCCTGTGGAATGGCCCCACTAGCCTGGGCCTCAGGGTGGGACTGAGGGGTCACACAGGTGGGACTGAGGGGTCACACAGGTGGGGAAAGGACATGAGAACAGCTTTCCTTTACCTGACCAGTCCTGAGCTCCTTGGGGTGGGGGCCTGGAACAGCTGCCTGGGGGCACAAGAACCATGTCCTTACTTTAGGGAAAACTCAGCAAGCCAAGGTGACCTGGAGGAAAGGGGATTCCTCT... | pathogenic | 134,085 |
A genetic variant at chromosome 8, position 41672651, affecting gene ANK1 (ankyrin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic | TTGCTGTCTCAACTTCCAAACGACTTCCTTTCCCTTCCTGTTAGGGTATTGGGGCCAGGCTGCATGGATCCTGTGGAATGGCCCCACTAGCCTGGGCCTCAGGGTGGGACTGAGGGGTCACACAGGTGGGACTGAGGGGTCACACAGGTGGGGAAAGGACATGAGAACAGCTTTCCTTTACCTGACCAGTCCTGAGCTCCTTGGGGTGGGGGCCTGGAACAGCTGCCTGGGGGCACAAGAACCATGTCCTTACTTTAGGGAAAACTCAGCAAGCCAAGGTGACCTGGAGGAAAGGGGATTCCTCTGTCATCCGCTTCCTG... | TTGCTGTCTCAACTTCCAAACGACTTCCTTTCCCTTCCTGTTAGGGTATTGGGGCCAGGCTGCATGGATCCTGTGGAATGGCCCCACTAGCCTGGGCCTCAGGGTGGGACTGAGGGGTCACACAGGTGGGACTGAGGGGTCACACAGGTGGGGAAAGGACATGAGAACAGCTTTCCTTTACCTGACCAGTCCTGAGCTCCTTGGGGTGGGGGCCTGGAACAGCTGCCTGGGGGCACAAGAACCATGTCCTTACTTTAGGGAAAACTCAGCAAGCCAAGGTGACCTGGAGGAAAGGGGATTCCTCTGTCATCCGCTTCCTG... | pathogenic | 134,086 |
A genetic variant on chromosome 8, position 41690563, affects the gene ANK1 (ankyrin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_spherocytosis_type_1'] | TGTGGACTCACTGAGAATGCTGTATCGCAGGGCCAGGGGCGTCGGGGTCCTTCTCCTATCTTCGGCTCCACTTCCCTGCAGAAGAAGAAAGGGTGCTTTGGGTTTTGGACTCTCCCCACCTTCCCAGAGAAAGTGATCTGAGCTCCTATGCTGCAGGGGTGTGGAAGGCTGACCCCAGTCCTGGTAAACAATCAGTCCGTTTCTTCAGGGACTTAACACAAAGAGTAACACATGGGAGGAGTGGGAGTGAAGGGAAGCTGAAGAAGCGCACATGCGTTATTAATCACAGTCGTAATAACGGCAAGCCCACGTCACCCCAT... | TGTGGACTCACTGAGAATGCTGTATCGCAGGGCCAGGGGCGTCGGGGTCCTTCTCCTATCTTCGGCTCCACTTCCCTGCAGAAGAAGAAAGGGTGCTTTGGGTTTTGGACTCTCCCCACCTTCCCAGAGAAAGTGATCTGAGCTCCTATGCTGCAGGGGTGTGGAAGGCTGACCCCAGTCCTGGTAAACAATCAGTCCGTTTCTTCAGGGACTTAACACAAAGAGTAACACATGGGAGGAGTGGGAGTGAAGGGAAGCTGAAGAAGCGCACATGCGTTATTAATCACAGTCGTAATAACGGCAAGCCCACGTCACCCCAT... | pathogenic | 134,112 |
Considering the variant on chromosome 8, location 41693109, involving gene ANK1 (ankyrin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_spherocytosis_type_1'] | AATTTTTTTAAAAAAACTAGCCAGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGATGCTGAGGCAGGAGGATCACTGGAGGCCAGGAGTTTAAGGCTGCAGTGGGCTATGATGTCACAACTGCACTCCAGCCTGGGCAACAGACTGAGATCCTGTTTCTAAAAATAAAACCAAGGTTCTGTTTTTATGTCTGTCCAAAGATGCTTTGTTCATGACAAGAGCTGGAAAGCACTTGCTCTGTTTTAATCTCACTCATTGTTATGGGTGAGCTTTCAACTGAGAAGTTATCACTAACTCATTTGACAGTTGAAAAA... | AATTTTTTTAAAAAAACTAGCCAGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGATGCTGAGGCAGGAGGATCACTGGAGGCCAGGAGTTTAAGGCTGCAGTGGGCTATGATGTCACAACTGCACTCCAGCCTGGGCAACAGACTGAGATCCTGTTTCTAAAAATAAAACCAAGGTTCTGTTTTTATGTCTGTCCAAAGATGCTTTGTTCATGACAAGAGCTGGAAAGCACTTGCTCTGTTTTAATCTCACTCATTGTTATGGGTGAGCTTTCAACTGAGAAGTTATCACTAACTCATTTGACAGTTGAAAAA... | pathogenic | 134,118 |
Is the chromosome 8, position 41694795 variant in ANK1 (ankyrin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_spherocytosis_type_1'] | CTCTCGGGGGTCATTCATCTTGGCAAAGATGACGAATTTGGCCATGTAGGGCACTGCAGTGAGCTCTTTGTACAGCAGGGTGGCAAAGTTCACAGCCTCAGCAGTCCGAGGACAGTCCGACAGCCAAAACCTAAAAAGTAGGGCGAGTTATGTGTTCCCAAGTGCCCAACAGAGAGCATCCTTTCCATCCAGACGGGAGCAGCCCGTGAGCCATACCATGGCTACTATTGCCACACCTGTGGTCACGGAGGCTTCCACATGGAGGGGACAGTGAGGGAGCCTCAGCCTCAGGCCTGGACGGCAGCATAGAGCCTGAGGAC... | CTCTCGGGGGTCATTCATCTTGGCAAAGATGACGAATTTGGCCATGTAGGGCACTGCAGTGAGCTCTTTGTACAGCAGGGTGGCAAAGTTCACAGCCTCAGCAGTCCGAGGACAGTCCGACAGCCAAAACCTAAAAAGTAGGGCGAGTTATGTGTTCCCAAGTGCCCAACAGAGAGCATCCTTTCCATCCAGACGGGAGCAGCCCGTGAGCCATACCATGGCTACTATTGCCACACCTGTGGTCACGGAGGCTTCCACATGGAGGGGACAGTGAGGGAGCCTCAGCCTCAGGCCTGGACGGCAGCATAGAGCCTGAGGAC... | pathogenic | 134,130 |
Considering the genetic mutation at chromosome 8, position 41701613, impacting ANK1 (ankyrin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_spherocytosis_type_1'] | TCAAGTGAGCGACGGGGTAGAGGAAGAAGAGTCCCTCTTTTTTTAAAAAAGCTCTGTTCCCGCTCCGCCTCTGGGGGCTTGCTCCTGAGGAGTGGGGAAGGTCTTGATGCTGCAAGGAGACTGGGAGCAATGTCTTTGCCCAGTCCTGGTCCTCCAGCTCTGGGATAGAGAGCAGGGCAGCCAGCTCCTGACATCTTAGATGCCTGAGGCTTTGCAGGAGGCCAAAGACACAGCCAGAAAGAACTTTGTTCGCTTAGTTCCAATTCAAAACAGCCCTTTTAGCTGTGCAATGGCACCAAAGAAGGAACTGCTACTGCTCT... | TCAAGTGAGCGACGGGGTAGAGGAAGAAGAGTCCCTCTTTTTTTAAAAAAGCTCTGTTCCCGCTCCGCCTCTGGGGGCTTGCTCCTGAGGAGTGGGGAAGGTCTTGATGCTGCAAGGAGACTGGGAGCAATGTCTTTGCCCAGTCCTGGTCCTCCAGCTCTGGGATAGAGAGCAGGGCAGCCAGCTCCTGACATCTTAGATGCCTGAGGCTTTGCAGGAGGCCAAAGACACAGCCAGAAAGAACTTTGTTCGCTTAGTTCCAATTCAAAACAGCCCTTTTAGCTGTGCAATGGCACCAAAGAAGGAACTGCTACTGCTCT... | pathogenic | 134,147 |
Is the genetic variant on chromosome 8, position 41701617, gene ANK1 (ankyrin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['ANK1-related_disorder', 'Hereditary_spherocytosis_type_1'] | GTGAGCGACGGGGTAGAGGAAGAAGAGTCCCTCTTTTTTTAAAAAAGCTCTGTTCCCGCTCCGCCTCTGGGGGCTTGCTCCTGAGGAGTGGGGAAGGTCTTGATGCTGCAAGGAGACTGGGAGCAATGTCTTTGCCCAGTCCTGGTCCTCCAGCTCTGGGATAGAGAGCAGGGCAGCCAGCTCCTGACATCTTAGATGCCTGAGGCTTTGCAGGAGGCCAAAGACACAGCCAGAAAGAACTTTGTTCGCTTAGTTCCAATTCAAAACAGCCCTTTTAGCTGTGCAATGGCACCAAAGAAGGAACTGCTACTGCTCTTTTC... | GTGAGCGACGGGGTAGAGGAAGAAGAGTCCCTCTTTTTTTAAAAAAGCTCTGTTCCCGCTCCGCCTCTGGGGGCTTGCTCCTGAGGAGTGGGGAAGGTCTTGATGCTGCAAGGAGACTGGGAGCAATGTCTTTGCCCAGTCCTGGTCCTCCAGCTCTGGGATAGAGAGCAGGGCAGCCAGCTCCTGACATCTTAGATGCCTGAGGCTTTGCAGGAGGCCAAAGACACAGCCAGAAAGAACTTTGTTCGCTTAGTTCCAATTCAAAACAGCCCTTTTAGCTGTGCAATGGCACCAAAGAAGGAACTGCTACTGCTCTTTTC... | pathogenic | 134,148 |
Classify the chromosome 8 variant at position 41706235 affecting gene ANK1 (ankyrin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_spherocytosis_type_1'] | GAGACCTGCCTACACATGATAGTGCCTGCCCATCTTCGAAGTGGGACATTAATGAAATGCATTTTCCCCCTTTCTTCCTTCAGGGTCCATGGTCAAAACCCTAGTGCTCCCAGAGCAGCTCTGGCTTTACCCTGATGTGGCATGGAGAAGGGTCAGTGCAGGAGTCGGGGCTGGGGCACCCCTGTACCTTGGTCTTGGCATTGACATCTGCCTGGTGCTGCAGCAGAAACTTCACCAGCTTGATGTTTCCATAGTGACTGGCCACATGGAGGGGAGTGTAGCCCATCTGAAAAGCAGATGAGAAGGAGTGACCGGAGCTG... | GAGACCTGCCTACACATGATAGTGCCTGCCCATCTTCGAAGTGGGACATTAATGAAATGCATTTTCCCCCTTTCTTCCTTCAGGGTCCATGGTCAAAACCCTAGTGCTCCCAGAGCAGCTCTGGCTTTACCCTGATGTGGCATGGAGAAGGGTCAGTGCAGGAGTCGGGGCTGGGGCACCCCTGTACCTTGGTCTTGGCATTGACATCTGCCTGGTGCTGCAGCAGAAACTTCACCAGCTTGATGTTTCCATAGTGACTGGCCACATGGAGGGGAGTGTAGCCCATCTGAAAAGCAGATGAGAAGGAGTGACCGGAGCTG... | pathogenic | 134,156 |
Determine if the mutation at chromosome 8, position 41708860 in gene ANK1 (ankyrin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['ANK1-related_disorder', 'Hereditary_spherocytosis_type_1'] | TAAATGGCTGGGCGCGGCGGCTCATGCCTGTCATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAGACCTCCATCTTTACTAAAAATACAAAAATAAGCAGGGCGTGGTGGCTCATGCCTGTAATCCCAGCTACTTGGGTGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACTACTGCACTTCAGCCTAGGTGACAGAGCAAGACTCCATCTTAAATAAATAAATAAATAATGTACCATACTGTT... | TAAATGGCTGGGCGCGGCGGCTCATGCCTGTCATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAGACCTCCATCTTTACTAAAAATACAAAAATAAGCAGGGCGTGGTGGCTCATGCCTGTAATCCCAGCTACTTGGGTGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACTACTGCACTTCAGCCTAGGTGACAGAGCAAGACTCCATCTTAAATAAATAAATAAATAATGTACCATACTGTT... | pathogenic | 134,158 |
Chromosome 8, position 41714238, gene ANK1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_spherocytosis_type_1'] | GCTGGGATTACAGGCTTGAGCCACCGTGCCCGGCCCTATTAGGCCATCTTTTAATGTACAAGGGTCCATCACTTGAGCAATCTGCAGTGTGTTCATGGATGTATCCTCAGGAATCCCAGGCCACCTGGGAAGCAGCGATGTCCACACTGGCAAGGCCAGCCCCCTGTCCTGCCCAAGGGTAGGCCTGCCCTGGACATGGCTCAGGCTACCAGGTAAACCTCTGGTTAAAATTGAGATACAAGTGCCACTGTGACTCTCAGAACACGGACTGCCCCTCTGAGCTTCCCCTAAACCAGAACTAAAATGAACAAATGAACTTC... | GCTGGGATTACAGGCTTGAGCCACCGTGCCCGGCCCTATTAGGCCATCTTTTAATGTACAAGGGTCCATCACTTGAGCAATCTGCAGTGTGTTCATGGATGTATCCTCAGGAATCCCAGGCCACCTGGGAAGCAGCGATGTCCACACTGGCAAGGCCAGCCCCCTGTCCTGCCCAAGGGTAGGCCTGCCCTGGACATGGCTCAGGCTACCAGGTAAACCTCTGGTTAAAATTGAGATACAAGTGCCACTGTGACTCTCAGAACACGGACTGCCCCTCTGAGCTTCCCCTAAACCAGAACTAAAATGAACAAATGAACTTC... | pathogenic | 134,165 |
The mutation in gene ANK1 (ankyrin 1) at chromosome 8, position 41715734—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['ANK1-related_disorder', 'Hereditary_spherocytosis_type_1'] | TCAAAGTACGGTCGCTGTGGCCCCAGCCTTGGAACCATGCAGAGAGTAGGTTAAAAATGAGGCTTCCAGGCCACACTGCACAGTCCCACGGAGTCAGAATCTAGCAATGCTAGAAACGGGCTCACCACTCCCCAGGGATTTTTATCCACACTGACCTCTGACAGTCAGTTTACAAAACCCAGCTGACGTGCAACTGCTTGGGGACACATTTGTTGTATAAAACAAGTTCCGCCTCTGCGAGGTAACCCCTGGCTGGGAATTGTTACCCACTTCCCATCCCACTCCTGGGCCCTGAATAGCGTGATTACAGGGCAGGTAAC... | TCAAAGTACGGTCGCTGTGGCCCCAGCCTTGGAACCATGCAGAGAGTAGGTTAAAAATGAGGCTTCCAGGCCACACTGCACAGTCCCACGGAGTCAGAATCTAGCAATGCTAGAAACGGGCTCACCACTCCCCAGGGATTTTTATCCACACTGACCTCTGACAGTCAGTTTACAAAACCCAGCTGACGTGCAACTGCTTGGGGACACATTTGTTGTATAAAACAAGTTCCGCCTCTGCGAGGTAACCCCTGGCTGGGAATTGTTACCCACTTCCCATCCCACTCCTGGGCCCTGAATAGCGTGATTACAGGGCAGGTAAC... | pathogenic | 134,175 |
Is the chromosome 8, position 41715765 variant in ANK1 (ankyrin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_spherocytosis_type_1'] | GAACCATGCAGAGAGTAGGTTAAAAATGAGGCTTCCAGGCCACACTGCACAGTCCCACGGAGTCAGAATCTAGCAATGCTAGAAACGGGCTCACCACTCCCCAGGGATTTTTATCCACACTGACCTCTGACAGTCAGTTTACAAAACCCAGCTGACGTGCAACTGCTTGGGGACACATTTGTTGTATAAAACAAGTTCCGCCTCTGCGAGGTAACCCCTGGCTGGGAATTGTTACCCACTTCCCATCCCACTCCTGGGCCCTGAATAGCGTGATTACAGGGCAGGTAACATGTGGGAAAGTGAGGCGTGATTTCTGAGGT... | GAACCATGCAGAGAGTAGGTTAAAAATGAGGCTTCCAGGCCACACTGCACAGTCCCACGGAGTCAGAATCTAGCAATGCTAGAAACGGGCTCACCACTCCCCAGGGATTTTTATCCACACTGACCTCTGACAGTCAGTTTACAAAACCCAGCTGACGTGCAACTGCTTGGGGACACATTTGTTGTATAAAACAAGTTCCGCCTCTGCGAGGTAACCCCTGGCTGGGAATTGTTACCCACTTCCCATCCCACTCCTGGGCCCTGAATAGCGTGATTACAGGGCAGGTAACATGTGGGAAAGTGAGGCGTGATTTCTGAGGT... | pathogenic | 134,176 |
Classify the chromosome 8 variant at position 41727289 affecting gene ANK1 (ankyrin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_spherocytosis_type_1'] | GGGACTTTGAATAACTCCAGTAAATCCATTTCCACTAAAAGAAAACCAGCAGCCTCAGCCTACAGACAGCAGATCAGCAGTGCCTCCGAACACCGGAGAGCGTGCCCAGGTGCACGCAGGCGTGCAAGGTCCCGGACCCCCTTTCTCCACACCCCAGCCCCTGCACGCCTCCTCCCTCCACTACGGGGCAGCCGGGGAGGAGAGATGAAGGAACATCAGGAAGGCCGCCTCCTGGGGTTCCAGGGTGACCCGCCCTGCCCGCCTGGACACATTTCCAGATGACCTGGAGCAACAGGAACCACCCCCGCTGCTCACCAAGA... | GGGACTTTGAATAACTCCAGTAAATCCATTTCCACTAAAAGAAAACCAGCAGCCTCAGCCTACAGACAGCAGATCAGCAGTGCCTCCGAACACCGGAGAGCGTGCCCAGGTGCACGCAGGCGTGCAAGGTCCCGGACCCCCTTTCTCCACACCCCAGCCCCTGCACGCCTCCTCCCTCCACTACGGGGCAGCCGGGGAGGAGAGATGAAGGAACATCAGGAAGGCCGCCTCCTGGGGTTCCAGGGTGACCCGCCCTGCCCGCCTGGACACATTTCCAGATGACCTGGAGCAACAGGAACCACCCCCGCTGCTCACCAAGA... | pathogenic | 134,205 |
Variant chromosome 8, position 41797532, gene ANK1 (ankyrin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_spherocytosis_type_1'] | GGGCAACAGAGCGAGACTCTGTCTTAAAAATAATAATAATTATTATTAAATAAATAAATATAAAAACTAATTACAGCTGCTTGAGCCACGAAAAAGAATGAAATCATGTCATTTGTAGCAACGTGGTTGTAACTGGAGGTCATTATGCTAAGTGAAATAAGCGAGGCACAGAAAGACAAATACTGAATGTTCTCAGTCATACATAGGAGCTAAAAAAGTTGATTTCTTGGACCTAGAGAATAGAATAATAGATACCAGAGACCAGGAAGGGTGGGTGGGGGGCAAGAGAATGAAGAGAGATTGGTTATGCGTACAAACAT... | GGGCAACAGAGCGAGACTCTGTCTTAAAAATAATAATAATTATTATTAAATAAATAAATATAAAAACTAATTACAGCTGCTTGAGCCACGAAAAAGAATGAAATCATGTCATTTGTAGCAACGTGGTTGTAACTGGAGGTCATTATGCTAAGTGAAATAAGCGAGGCACAGAAAGACAAATACTGAATGTTCTCAGTCATACATAGGAGCTAAAAAAGTTGATTTCTTGGACCTAGAGAATAGAATAATAGATACCAGAGACCAGGAAGGGTGGGTGGGGGGCAAGAGAATGAAGAGAGATTGGTTATGCGTACAAACAT... | pathogenic | 134,216 |
Does the genetic variant at chromosome 8, position 41933168, impacting gene KAT6A (lysine acetyltransferase 6A), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AAATGTACAGTCATCCACCAACAATTTAAGAAAGAACCTAAGAGGCAAATCACTGGGGACTGCTATTTGAGTTTTATCAGTCAAAGGCTCAAGCATCAAGACCCTCAGTTAGCATTTCAAAGTACATACTAGAAACAAGAGGCTGGGTGGCGTGTGTGTGCGTTATGGCTGATTCACCAGGTGGTAAAAAAACAAGAGGTTAATCTCCTCTTTTTGATTGTTAATTGACCATCTCTATTCCTCCAAAGGCTGGATTTGGATTGCAAACAGCTTTTCTCTGAGATTCTGCTGTTAATTGAGACTTACAGTATTTTTGTGTC... | AAATGTACAGTCATCCACCAACAATTTAAGAAAGAACCTAAGAGGCAAATCACTGGGGACTGCTATTTGAGTTTTATCAGTCAAAGGCTCAAGCATCAAGACCCTCAGTTAGCATTTCAAAGTACATACTAGAAACAAGAGGCTGGGTGGCGTGTGTGTGCGTTATGGCTGATTCACCAGGTGGTAAAAAAACAAGAGGTTAATCTCCTCTTTTTGATTGTTAATTGACCATCTCTATTCCTCCAAAGGCTGGATTTGGATTGCAAACAGCTTTTCTCTGAGATTCTGCTGTTAATTGAGACTTACAGTATTTTTGTGTC... | benign | 134,252 |
A mutation at chromosome position 41933195 on chromosome 8 in gene KAT6A (lysine acetyltransferase 6A): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | AAGAAAGAACCTAAGAGGCAAATCACTGGGGACTGCTATTTGAGTTTTATCAGTCAAAGGCTCAAGCATCAAGACCCTCAGTTAGCATTTCAAAGTACATACTAGAAACAAGAGGCTGGGTGGCGTGTGTGTGCGTTATGGCTGATTCACCAGGTGGTAAAAAAACAAGAGGTTAATCTCCTCTTTTTGATTGTTAATTGACCATCTCTATTCCTCCAAAGGCTGGATTTGGATTGCAAACAGCTTTTCTCTGAGATTCTGCTGTTAATTGAGACTTACAGTATTTTTGTGTCTCTGAGTGCTGAGTGGGAATATTTTAA... | AAGAAAGAACCTAAGAGGCAAATCACTGGGGACTGCTATTTGAGTTTTATCAGTCAAAGGCTCAAGCATCAAGACCCTCAGTTAGCATTTCAAAGTACATACTAGAAACAAGAGGCTGGGTGGCGTGTGTGTGCGTTATGGCTGATTCACCAGGTGGTAAAAAAACAAGAGGTTAATCTCCTCTTTTTGATTGTTAATTGACCATCTCTATTCCTCCAAAGGCTGGATTTGGATTGCAAACAGCTTTTCTCTGAGATTCTGCTGTTAATTGAGACTTACAGTATTTTTGTGTCTCTGAGTGCTGAGTGGGAATATTTTAA... | benign | 134,255 |
Variant at chromosome 8, position 41933243, gene KAT6A (lysine acetyltransferase 6A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ATCAGTCAAAGGCTCAAGCATCAAGACCCTCAGTTAGCATTTCAAAGTACATACTAGAAACAAGAGGCTGGGTGGCGTGTGTGTGCGTTATGGCTGATTCACCAGGTGGTAAAAAAACAAGAGGTTAATCTCCTCTTTTTGATTGTTAATTGACCATCTCTATTCCTCCAAAGGCTGGATTTGGATTGCAAACAGCTTTTCTCTGAGATTCTGCTGTTAATTGAGACTTACAGTATTTTTGTGTCTCTGAGTGCTGAGTGGGAATATTTTAAAAAAGAAGAAAAAAATTATATTACACTTGATTCAAGAACAACAAAGAT... | ATCAGTCAAAGGCTCAAGCATCAAGACCCTCAGTTAGCATTTCAAAGTACATACTAGAAACAAGAGGCTGGGTGGCGTGTGTGTGCGTTATGGCTGATTCACCAGGTGGTAAAAAAACAAGAGGTTAATCTCCTCTTTTTGATTGTTAATTGACCATCTCTATTCCTCCAAAGGCTGGATTTGGATTGCAAACAGCTTTTCTCTGAGATTCTGCTGTTAATTGAGACTTACAGTATTTTTGTGTCTCTGAGTGCTGAGTGGGAATATTTTAAAAAAGAAGAAAAAAATTATATTACACTTGATTCAAGAACAACAAAGAT... | benign | 134,258 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 41933268, gene KAT6A (lysine acetyltransferase 6A). What disease(s) is it linked to if pathogenic? | benign | ACCCTCAGTTAGCATTTCAAAGTACATACTAGAAACAAGAGGCTGGGTGGCGTGTGTGTGCGTTATGGCTGATTCACCAGGTGGTAAAAAAACAAGAGGTTAATCTCCTCTTTTTGATTGTTAATTGACCATCTCTATTCCTCCAAAGGCTGGATTTGGATTGCAAACAGCTTTTCTCTGAGATTCTGCTGTTAATTGAGACTTACAGTATTTTTGTGTCTCTGAGTGCTGAGTGGGAATATTTTAAAAAAGAAGAAAAAAATTATATTACACTTGATTCAAGAACAACAAAGATTTCAATGAAGTCCGTCTATAAAGAA... | ACCCTCAGTTAGCATTTCAAAGTACATACTAGAAACAAGAGGCTGGGTGGCGTGTGTGTGCGTTATGGCTGATTCACCAGGTGGTAAAAAAACAAGAGGTTAATCTCCTCTTTTTGATTGTTAATTGACCATCTCTATTCCTCCAAAGGCTGGATTTGGATTGCAAACAGCTTTTCTCTGAGATTCTGCTGTTAATTGAGACTTACAGTATTTTTGTGTCTCTGAGTGCTGAGTGGGAATATTTTAAAAAAGAAGAAAAAAATTATATTACACTTGATTCAAGAACAACAAAGATTTCAATGAAGTCCGTCTATAAAGAA... | benign | 134,262 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.