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 |
|---|---|---|---|---|---|
Is the variant located on chromosome 18 at position 31070864, gene DSC2 (desmocollin 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | ATAGTCAGAATCCAGTTAGTTATTTATAAAGTTTAAAGAAAATTAAAATAGATTTGTAGGCCACTTAGGAAAACTCACTTCACCAAGACGGGGCTGAGTAAAACTGTGCCACTCCGAGTAAGTGTATCTGCAGTTGTCCACCTCCGTGTGTCCTCCCCTGCAGGAGTCCAGGGTGTGATGGTGGCCAGCCCCCCGGCAGGATTCCGAGGTCTGGTGTCCTCCTTTCACCATTTCGATGGTCTCCTGACCTCCGTTTTTGATTCCTGATCCCACGGTGCCACAAACTCCCTGAGCAGAAGCGCCCACAGTTTGGGTTGTGA... | ATAGTCAGAATCCAGTTAGTTATTTATAAAGTTTAAAGAAAATTAAAATAGATTTGTAGGCCACTTAGGAAAACTCACTTCACCAAGACGGGGCTGAGTAAAACTGTGCCACTCCGAGTAAGTGTATCTGCAGTTGTCCACCTCCGTGTGTCCTCCCCTGCAGGAGTCCAGGGTGTGATGGTGGCCAGCCCCCCGGCAGGATTCCGAGGTCTGGTGTCCTCCTTTCACCATTTCGATGGTCTCCTGACCTCCGTTTTTGATTCCTGATCCCACGGTGCCACAAACTCCCTGAGCAGAAGCGCCCACAGTTTGGGTTGTGA... | benign | 288,676 |
The mutation in gene DSC2 (desmocollin 2) at chromosome 18, position 31071603—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_11', 'Dilated_cardiomyopathy_1A', 'likely other unspecified diseases'] | AAATACAAAAATCAGCTGGGCATGGTAGTAGGCACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACAGGAATCGCTTGAACCTGGAAGACGGAGCTTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCTTTGGCAACAGAGCCAGATCTTGTCTCAAAAAAAAAAAAAAAAAGCCTCTTAGAATACTGTACAACTCTAATTCTTCAATCCTTCCTACATCTCACACCTCAAAATAAACACTGTTGTCTCACATATACTTACTCTGCTTAGTTTAAATTAATTCCCTTTTACCTGACTAAAGCAGAAACAGAAGTA... | AAATACAAAAATCAGCTGGGCATGGTAGTAGGCACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACAGGAATCGCTTGAACCTGGAAGACGGAGCTTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCTTTGGCAACAGAGCCAGATCTTGTCTCAAAAAAAAAAAAAAAAAGCCTCTTAGAATACTGTACAACTCTAATTCTTCAATCCTTCCTACATCTCACACCTCAAAATAAACACTGTTGTCTCACATATACTTACTCTGCTTAGTTTAAATTAATTCCCTTTTACCTGACTAAAGCAGAAACAGAAGTA... | pathogenic | 288,678 |
The mutation in gene DSC2 (desmocollin 2) at chromosome 18, position 31071613—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_11'] | ATCAGCTGGGCATGGTAGTAGGCACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACAGGAATCGCTTGAACCTGGAAGACGGAGCTTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCTTTGGCAACAGAGCCAGATCTTGTCTCAAAAAAAAAAAAAAAAAGCCTCTTAGAATACTGTACAACTCTAATTCTTCAATCCTTCCTACATCTCACACCTCAAAATAAACACTGTTGTCTCACATATACTTACTCTGCTTAGTTTAAATTAATTCCCTTTTACCTGACTAAAGCAGAAACAGAAGTAATGATCAATA... | ATCAGCTGGGCATGGTAGTAGGCACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACAGGAATCGCTTGAACCTGGAAGACGGAGCTTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCTTTGGCAACAGAGCCAGATCTTGTCTCAAAAAAAAAAAAAAAAAGCCTCTTAGAATACTGTACAACTCTAATTCTTCAATCCTTCCTACATCTCACACCTCAAAATAAACACTGTTGTCTCACATATACTTACTCTGCTTAGTTTAAATTAATTCCCTTTTACCTGACTAAAGCAGAAACAGAAGTAATGATCAATA... | pathogenic | 288,679 |
Clinical classification of chromosome 18, position 31083068, gene DSC2 (desmocollin 2): benign or pathogenic? Disease(s) if pathogenic? | benign | TATTTAATGAGGGTTCTTGGATATTAATACATGAGATACTCCTTTAGGGGATTCATACTATAAACAATAGTTATTTACTACAAAATAAATTTTAGGACAGCTTGTCTTACCCTCCTAAGATGAATAAAATTATTTGTACCTGGTATGAGGAAGAGAAAAAAATGGGTAAATTTTTTTAAAATGCTTTTAAGAGGAGCAAGACAAGAAAATACAAAGCTTATGGGCATCATATTTTCTTTTTTTATGTGTGTCTTCCATTCCAGTTCCTGTCTTAAAGACGGGAACATATTTAATAAAAGGTTTTATTTTATCTTGCCTGA... | TATTTAATGAGGGTTCTTGGATATTAATACATGAGATACTCCTTTAGGGGATTCATACTATAAACAATAGTTATTTACTACAAAATAAATTTTAGGACAGCTTGTCTTACCCTCCTAAGATGAATAAAATTATTTGTACCTGGTATGAGGAAGAGAAAAAAATGGGTAAATTTTTTTAAAATGCTTTTAAGAGGAGCAAGACAAGAAAATACAAAGCTTATGGGCATCATATTTTCTTTTTTTATGTGTGTCTTCCATTCCAGTTCCTGTCTTAAAGACGGGAACATATTTAATAAAAGGTTTTATTTTATCTTGCCTGA... | benign | 288,753 |
Mutation found at chromosome 18 position 31086560, gene DSC2 (desmocollin 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AATCCTGAGGTCAAAAAGTTACTAGAGAGCACCACTGGATAAACACCTTCACTGGACAAGTGTTTTCAACTGATTATTTCAGAAGAATCTATTCAAAGAAAAGCACTTCTGTGATTGTTTGATTTAGGAGCTGAACAAGCTGTTGAGTTTTTGCTTTTTTTTTTTTTCCATAGAATGCTATTTTCACATAGACATCTATGGCTATGCAGACTATAGTTTTATGAAAGTATTTTGTAAAACATAAAGTTAATCTGTCACTTCAGGGAAAACAACTATTTGTTGCCAATGATAAATTGGAGATTTCAAACAAAAATGAGAAG... | AATCCTGAGGTCAAAAAGTTACTAGAGAGCACCACTGGATAAACACCTTCACTGGACAAGTGTTTTCAACTGATTATTTCAGAAGAATCTATTCAAAGAAAAGCACTTCTGTGATTGTTTGATTTAGGAGCTGAACAAGCTGTTGAGTTTTTGCTTTTTTTTTTTTTCCATAGAATGCTATTTTCACATAGACATCTATGGCTATGCAGACTATAGTTTTATGAAAGTATTTTGTAAAACATAAAGTTAATCTGTCACTTCAGGGAAAACAACTATTTGTTGCCAATGATAAATTGGAGATTTCAAACAAAAATGAGAAG... | benign | 288,755 |
Clinical classification of chromosome 18, position 31086637, gene DSC2 (desmocollin 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_11'] | TTCAGAAGAATCTATTCAAAGAAAAGCACTTCTGTGATTGTTTGATTTAGGAGCTGAACAAGCTGTTGAGTTTTTGCTTTTTTTTTTTTTCCATAGAATGCTATTTTCACATAGACATCTATGGCTATGCAGACTATAGTTTTATGAAAGTATTTTGTAAAACATAAAGTTAATCTGTCACTTCAGGGAAAACAACTATTTGTTGCCAATGATAAATTGGAGATTTCAAACAAAAATGAGAAGCTTGGAAAACCTTTATCAACCAATGTGATATCAATGGAAGTAAAGAGGTGATCTTTTTGATATTATTTAATGCAATG... | TTCAGAAGAATCTATTCAAAGAAAAGCACTTCTGTGATTGTTTGATTTAGGAGCTGAACAAGCTGTTGAGTTTTTGCTTTTTTTTTTTTTCCATAGAATGCTATTTTCACATAGACATCTATGGCTATGCAGACTATAGTTTTATGAAAGTATTTTGTAAAACATAAAGTTAATCTGTCACTTCAGGGAAAACAACTATTTGTTGCCAATGATAAATTGGAGATTTCAAACAAAAATGAGAAGCTTGGAAAACCTTTATCAACCAATGTGATATCAATGGAAGTAAAGAGGTGATCTTTTTGATATTATTTAATGCAATG... | pathogenic | 288,760 |
Evaluate if the mutation on chromosome 18 at position 31087757 in DSC2 (desmocollin 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_11', 'Cardiovascular_phenotype'] | CTGAAGATTTAAGACTTAAGAATCAAATAAAATACCTGATAAACATCTATTACTATATTTTAAGATTAAGGATTATAAATATAGTAAATAAGGACACAGAAACTGCTATAAGAATTTAGATGAATAATGCTTCAGGGAGGAGGTAATAGTTGAATAACTAAGTGAATGAATTACTAAGCTAGGGTATTGCAGTAGAAAGAGACAGAATATAGATTTAAAACAATCTTGGAGGTAAAAACATGCTTTAGGAAGTGATGTGATTCAGGGGGGCCAAGAGACATCAAATACAATTTGGAGACCATGACTCCAAGGTGACAATA... | CTGAAGATTTAAGACTTAAGAATCAAATAAAATACCTGATAAACATCTATTACTATATTTTAAGATTAAGGATTATAAATATAGTAAATAAGGACACAGAAACTGCTATAAGAATTTAGATGAATAATGCTTCAGGGAGGAGGTAATAGTTGAATAACTAAGTGAATGAATTACTAAGCTAGGGTATTGCAGTAGAAAGAGACAGAATATAGATTTAAAACAATCTTGGAGGTAAAAACATGCTTTAGGAAGTGATGTGATTCAGGGGGGCCAAGAGACATCAAATACAATTTGGAGACCATGACTCCAAGGTGACAATA... | pathogenic | 288,775 |
Mutation at chromosome 18, position 31087825, within DSC2 (desmocollin 2): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AGGATTATAAATATAGTAAATAAGGACACAGAAACTGCTATAAGAATTTAGATGAATAATGCTTCAGGGAGGAGGTAATAGTTGAATAACTAAGTGAATGAATTACTAAGCTAGGGTATTGCAGTAGAAAGAGACAGAATATAGATTTAAAACAATCTTGGAGGTAAAAACATGCTTTAGGAAGTGATGTGATTCAGGGGGGCCAAGAGACATCAAATACAATTTGGAGACCATGACTCCAAGGTGACAATAGAAAATGATTAATAGAGAAAGAATATATAAATATCTTTTTAACTAGAAAACATAGAATGGAAAATATG... | AGGATTATAAATATAGTAAATAAGGACACAGAAACTGCTATAAGAATTTAGATGAATAATGCTTCAGGGAGGAGGTAATAGTTGAATAACTAAGTGAATGAATTACTAAGCTAGGGTATTGCAGTAGAAAGAGACAGAATATAGATTTAAAACAATCTTGGAGGTAAAAACATGCTTTAGGAAGTGATGTGATTCAGGGGGGCCAAGAGACATCAAATACAATTTGGAGACCATGACTCCAAGGTGACAATAGAAAATGATTAATAGAGAAAGAATATATAAATATCTTTTTAACTAGAAAACATAGAATGGAAAATATG... | benign | 288,779 |
Evaluate this variant at chromosome 18, position 31089429, gene DSC2 (desmocollin 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TCCTATTTGTCAGGCACTGTGCTTGGCATTCGCTGTGTATTGAGCTTCACTTCATCTTCATAACAATCTGGCATACTGATAACCCATTTTACAGATGAAGAAATTAGGCTTGCCAAGATTAGGAAATTTGCCAAGCATCACACAGCTAGTGAAACACAGAGTAAAATTCCACCCAGAGTCCCTTATTCTTGCTGCTGGGATACGCTGCTTCTCAACGGACATAGTGAAACTAAATGTATGAATTGAAACACAGTTAATTTGCCATATATTGTTTAAGGAGGTACTCACCCACTCTGCAATTTTCAAAAATTGTAAAAGTA... | TCCTATTTGTCAGGCACTGTGCTTGGCATTCGCTGTGTATTGAGCTTCACTTCATCTTCATAACAATCTGGCATACTGATAACCCATTTTACAGATGAAGAAATTAGGCTTGCCAAGATTAGGAAATTTGCCAAGCATCACACAGCTAGTGAAACACAGAGTAAAATTCCACCCAGAGTCCCTTATTCTTGCTGCTGGGATACGCTGCTTCTCAACGGACATAGTGAAACTAAATGTATGAATTGAAACACAGTTAATTTGCCATATATTGTTTAAGGAGGTACTCACCCACTCTGCAATTTTCAAAAATTGTAAAAGTA... | benign | 288,782 |
Does the chromosome 18 mutation at position 31091028 within gene DSC2 (desmocollin 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_11'] | ATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTATCATGGTGCGTGCCTGTGATCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAACCCCGGAGCCAGAGATTGCAGTGAGCCGAGATTACGCCACTGCACTTCAGCCTGGGTGGCAAAGTGAGATGCTGTCTCAAAAAAAAAAAAAAAAAAACTGTTCTTCAAAGTGGTACTGTTGTGGGGGAAAAAAAAATAGTAAAACCATAATACCAGGAACAATCTAATGGAATCCAATATTATTTATTCTATGAAAATATTTTTTGTTTCAAG... | ATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTATCATGGTGCGTGCCTGTGATCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAACCCCGGAGCCAGAGATTGCAGTGAGCCGAGATTACGCCACTGCACTTCAGCCTGGGTGGCAAAGTGAGATGCTGTCTCAAAAAAAAAAAAAAAAAAACTGTTCTTCAAAGTGGTACTGTTGTGGGGGAAAAAAAAATAGTAAAACCATAATACCAGGAACAATCTAATGGAATCCAATATTATTTATTCTATGAAAATATTTTTTGTTTCAAG... | pathogenic | 288,794 |
The chromosome 18, position 31093589 genetic variant in gene DSC2 (desmocollin 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_11'] | GCAGAGCCAGGGAACCAACAGAGAGATCTGTGTCAGAATGAGGAGAGAAACACGGTGACAACTCTCAAACTGCTGCAGTGAGGAATGGCTAATGGTTGAATACAAGTTATTTTGATCTTGGGTGTCACAACACAATAGCATGCATGTGGTCCAAACCTCCTCCTAAAATAGTTATCTATGTTTTAAGACCACAGATTATGCTAAAATGAATGCGAGAAAAAAGCTTTCCTTTCTTTATACAGAGTTTCAAAACTTGTTGTTAGAAATCCATTCTACGGTAAAGCTCAAAAAAAAAATGCTGCTTTGTGTCTAATCTCACT... | GCAGAGCCAGGGAACCAACAGAGAGATCTGTGTCAGAATGAGGAGAGAAACACGGTGACAACTCTCAAACTGCTGCAGTGAGGAATGGCTAATGGTTGAATACAAGTTATTTTGATCTTGGGTGTCACAACACAATAGCATGCATGTGGTCCAAACCTCCTCCTAAAATAGTTATCTATGTTTTAAGACCACAGATTATGCTAAAATGAATGCGAGAAAAAAGCTTTCCTTTCTTTATACAGAGTTTCAAAACTTGTTGTTAGAAATCCATTCTACGGTAAAGCTCAAAAAAAAAATGCTGCTTTGTGTCTAATCTCACT... | pathogenic | 288,826 |
Classify the chromosome 18 variant at position 31093635 affecting gene DSC2 (desmocollin 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_11'] | GAAACACGGTGACAACTCTCAAACTGCTGCAGTGAGGAATGGCTAATGGTTGAATACAAGTTATTTTGATCTTGGGTGTCACAACACAATAGCATGCATGTGGTCCAAACCTCCTCCTAAAATAGTTATCTATGTTTTAAGACCACAGATTATGCTAAAATGAATGCGAGAAAAAAGCTTTCCTTTCTTTATACAGAGTTTCAAAACTTGTTGTTAGAAATCCATTCTACGGTAAAGCTCAAAAAAAAAATGCTGCTTTGTGTCTAATCTCACTTTCCCATGCTGTACCTTATCCCAATTTCTCCTTTTACGTCCCAAAT... | GAAACACGGTGACAACTCTCAAACTGCTGCAGTGAGGAATGGCTAATGGTTGAATACAAGTTATTTTGATCTTGGGTGTCACAACACAATAGCATGCATGTGGTCCAAACCTCCTCCTAAAATAGTTATCTATGTTTTAAGACCACAGATTATGCTAAAATGAATGCGAGAAAAAAGCTTTCCTTTCTTTATACAGAGTTTCAAAACTTGTTGTTAGAAATCCATTCTACGGTAAAGCTCAAAAAAAAAATGCTGCTTTGTGTCTAATCTCACTTTCCCATGCTGTACCTTATCCCAATTTCTCCTTTTACGTCCCAAAT... | pathogenic | 288,830 |
Assess the variant on chromosome 18, position 31093645, impacting DSC2 (desmocollin 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GACAACTCTCAAACTGCTGCAGTGAGGAATGGCTAATGGTTGAATACAAGTTATTTTGATCTTGGGTGTCACAACACAATAGCATGCATGTGGTCCAAACCTCCTCCTAAAATAGTTATCTATGTTTTAAGACCACAGATTATGCTAAAATGAATGCGAGAAAAAAGCTTTCCTTTCTTTATACAGAGTTTCAAAACTTGTTGTTAGAAATCCATTCTACGGTAAAGCTCAAAAAAAAAATGCTGCTTTGTGTCTAATCTCACTTTCCCATGCTGTACCTTATCCCAATTTCTCCTTTTACGTCCCAAATGAAAAGGAAT... | GACAACTCTCAAACTGCTGCAGTGAGGAATGGCTAATGGTTGAATACAAGTTATTTTGATCTTGGGTGTCACAACACAATAGCATGCATGTGGTCCAAACCTCCTCCTAAAATAGTTATCTATGTTTTAAGACCACAGATTATGCTAAAATGAATGCGAGAAAAAAGCTTTCCTTTCTTTATACAGAGTTTCAAAACTTGTTGTTAGAAATCCATTCTACGGTAAAGCTCAAAAAAAAAATGCTGCTTTGTGTCTAATCTCACTTTCCCATGCTGTACCTTATCCCAATTTCTCCTTTTACGTCCCAAATGAAAAGGAAT... | benign | 288,832 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 18, position 31093653, gene DSC2 (desmocollin 2). What disease(s) is it linked to if pathogenic? | benign | TCAAACTGCTGCAGTGAGGAATGGCTAATGGTTGAATACAAGTTATTTTGATCTTGGGTGTCACAACACAATAGCATGCATGTGGTCCAAACCTCCTCCTAAAATAGTTATCTATGTTTTAAGACCACAGATTATGCTAAAATGAATGCGAGAAAAAAGCTTTCCTTTCTTTATACAGAGTTTCAAAACTTGTTGTTAGAAATCCATTCTACGGTAAAGCTCAAAAAAAAAATGCTGCTTTGTGTCTAATCTCACTTTCCCATGCTGTACCTTATCCCAATTTCTCCTTTTACGTCCCAAATGAAAAGGAATGACAACCC... | TCAAACTGCTGCAGTGAGGAATGGCTAATGGTTGAATACAAGTTATTTTGATCTTGGGTGTCACAACACAATAGCATGCATGTGGTCCAAACCTCCTCCTAAAATAGTTATCTATGTTTTAAGACCACAGATTATGCTAAAATGAATGCGAGAAAAAAGCTTTCCTTTCTTTATACAGAGTTTCAAAACTTGTTGTTAGAAATCCATTCTACGGTAAAGCTCAAAAAAAAAATGCTGCTTTGTGTCTAATCTCACTTTCCCATGCTGTACCTTATCCCAATTTCTCCTTTTACGTCCCAAATGAAAAGGAATGACAACCC... | benign | 288,835 |
Evaluate this variant at chromosome 18, position 31093653, gene DSC2 (desmocollin 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TCAAACTGCTGCAGTGAGGAATGGCTAATGGTTGAATACAAGTTATTTTGATCTTGGGTGTCACAACACAATAGCATGCATGTGGTCCAAACCTCCTCCTAAAATAGTTATCTATGTTTTAAGACCACAGATTATGCTAAAATGAATGCGAGAAAAAAGCTTTCCTTTCTTTATACAGAGTTTCAAAACTTGTTGTTAGAAATCCATTCTACGGTAAAGCTCAAAAAAAAAATGCTGCTTTGTGTCTAATCTCACTTTCCCATGCTGTACCTTATCCCAATTTCTCCTTTTACGTCCCAAATGAAAAGGAATGACAACCC... | TCAAACTGCTGCAGTGAGGAATGGCTAATGGTTGAATACAAGTTATTTTGATCTTGGGTGTCACAACACAATAGCATGCATGTGGTCCAAACCTCCTCCTAAAATAGTTATCTATGTTTTAAGACCACAGATTATGCTAAAATGAATGCGAGAAAAAAGCTTTCCTTTCTTTATACAGAGTTTCAAAACTTGTTGTTAGAAATCCATTCTACGGTAAAGCTCAAAAAAAAAATGCTGCTTTGTGTCTAATCTCACTTTCCCATGCTGTACCTTATCCCAATTTCTCCTTTTACGTCCCAAATGAAAAGGAATGACAACCC... | benign | 288,836 |
Gene mutation in DSC2 at chromosome 18, position 31101938—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | ACAGGATTTCGCTCTGTCACCAAGGCTGGGATGCAGTGGCATGACCAGGGCTCACTGCAGCCTGGACCTCCCAAGCTCAAGCAATCCTCCCACCTTAGCCTCTCTCCAGTGACTTGGACCACAGGCGCGCACCCCATGCCCAGCTACAATCATTCTTACTTAATAATTTCTTACACTTAGTATTTACGCATTTCTCACACTTGAGACTCACAACCACAACAGCCACGTGAGGTTGGCAGGGCTTTGCACAGATGTGCACAGAGCAAAAACCAGCAGAATGAGAGTGTAGGCAGGGCCAGCATACTTCCTACCCCACTCCC... | ACAGGATTTCGCTCTGTCACCAAGGCTGGGATGCAGTGGCATGACCAGGGCTCACTGCAGCCTGGACCTCCCAAGCTCAAGCAATCCTCCCACCTTAGCCTCTCTCCAGTGACTTGGACCACAGGCGCGCACCCCATGCCCAGCTACAATCATTCTTACTTAATAATTTCTTACACTTAGTATTTACGCATTTCTCACACTTGAGACTCACAACCACAACAGCCACGTGAGGTTGGCAGGGCTTTGCACAGATGTGCACAGAGCAAAAACCAGCAGAATGAGAGTGTAGGCAGGGCCAGCATACTTCCTACCCCACTCCC... | benign | 288,843 |
Determine whether the variant at chromosome 18, position 31519807, in gene DSG2 (desmoglein 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype'] | AACCGAGAAGTCAGAACATGGGCTGTCCGTGTGTGTGTGGTGTGTGTTTTTTTGTGTGTGTATAATGCACACACATCCATAGGGATGGTGGGAGTTAGCTGGGTGTGGGGTACATTACATACTGGTGGCCTCGAGGAAAAGTAAGCAGGTCCTGGAGAACACAAGATAAAAACCATAGGATGCGGAGTAAAGGATGAGAGAATGTCTAAGATTTCACAAGGCAGATTATTTTGTTTGTTTTTTAAGATACTGTTTTCTGGAGGAGTCAGTATGGATCCAGGAGAATATAGATTTCTCCTCGGGCACTTCCCATTAGGGAA... | AACCGAGAAGTCAGAACATGGGCTGTCCGTGTGTGTGTGGTGTGTGTTTTTTTGTGTGTGTATAATGCACACACATCCATAGGGATGGTGGGAGTTAGCTGGGTGTGGGGTACATTACATACTGGTGGCCTCGAGGAAAAGTAAGCAGGTCCTGGAGAACACAAGATAAAAACCATAGGATGCGGAGTAAAGGATGAGAGAATGTCTAAGATTTCACAAGGCAGATTATTTTGTTTGTTTTTTAAGATACTGTTTTCTGGAGGAGTCAGTATGGATCCAGGAGAATATAGATTTCTCCTCGGGCACTTCCCATTAGGGAA... | pathogenic | 289,008 |
Evaluate if the mutation on chromosome 18 at position 31519811 in DSG2 (desmoglein 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10'] | GAGAAGTCAGAACATGGGCTGTCCGTGTGTGTGTGGTGTGTGTTTTTTTGTGTGTGTATAATGCACACACATCCATAGGGATGGTGGGAGTTAGCTGGGTGTGGGGTACATTACATACTGGTGGCCTCGAGGAAAAGTAAGCAGGTCCTGGAGAACACAAGATAAAAACCATAGGATGCGGAGTAAAGGATGAGAGAATGTCTAAGATTTCACAAGGCAGATTATTTTGTTTGTTTTTTAAGATACTGTTTTCTGGAGGAGTCAGTATGGATCCAGGAGAATATAGATTTCTCCTCGGGCACTTCCCATTAGGGAAGGCA... | GAGAAGTCAGAACATGGGCTGTCCGTGTGTGTGTGGTGTGTGTTTTTTTGTGTGTGTATAATGCACACACATCCATAGGGATGGTGGGAGTTAGCTGGGTGTGGGGTACATTACATACTGGTGGCCTCGAGGAAAAGTAAGCAGGTCCTGGAGAACACAAGATAAAAACCATAGGATGCGGAGTAAAGGATGAGAGAATGTCTAAGATTTCACAAGGCAGATTATTTTGTTTGTTTTTTAAGATACTGTTTTCTGGAGGAGTCAGTATGGATCCAGGAGAATATAGATTTCTCCTCGGGCACTTCCCATTAGGGAAGGCA... | pathogenic | 289,009 |
Assess the variant on chromosome 18, position 31520891, impacting DSG2 (desmoglein 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10'] | TCTGATCTTAAGATCCCAGGTCAGCTGTATTGAAATTTCCCTTGGATAAAATATATATTCACCTGTAAAACCCAACTGGAAATTTATAGAATGGTTTTCTGCCTAAGGTTCTGAAAATGAAATGGGAAATTTAATTCTTTACCCAATCCTGAAAACAATAAATTCATTAACTGGCAGTTTCCCTGGTTTTAGTCAAGTTTATATCAATAGATTACTAAGATTTAGCCTTAAAAAACATTTAGTAATTTATTTTTAAACCACAAACCACCACAGAAAAATGAAACTTCATTTTCAGTTAATAAGAAAAAACGTTTTTGACA... | TCTGATCTTAAGATCCCAGGTCAGCTGTATTGAAATTTCCCTTGGATAAAATATATATTCACCTGTAAAACCCAACTGGAAATTTATAGAATGGTTTTCTGCCTAAGGTTCTGAAAATGAAATGGGAAATTTAATTCTTTACCCAATCCTGAAAACAATAAATTCATTAACTGGCAGTTTCCCTGGTTTTAGTCAAGTTTATATCAATAGATTACTAAGATTTAGCCTTAAAAAACATTTAGTAATTTATTTTTAAACCACAAACCACCACAGAAAAATGAAACTTCATTTTCAGTTAATAAGAAAAAACGTTTTTGACA... | pathogenic | 289,026 |
Is the genetic change at chromosome 18, position 31521074, within gene DSG2 (desmoglein 2) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TGGTTTTAGTCAAGTTTATATCAATAGATTACTAAGATTTAGCCTTAAAAAACATTTAGTAATTTATTTTTAAACCACAAACCACCACAGAAAAATGAAACTTCATTTTCAGTTAATAAGAAAAAACGTTTTTGACATGATCTGTTATTTTTTACTTTGCCAATTTGTAAGGCTACTAAATGATTCTTTAAACTTTTCAAACTCTCACTCTGGGAAATCATTTCTTACAGTTAAAAACAAAATTCTACTGTCTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGACTGAGGCGGGCGGATTGCTTGAGGC... | TGGTTTTAGTCAAGTTTATATCAATAGATTACTAAGATTTAGCCTTAAAAAACATTTAGTAATTTATTTTTAAACCACAAACCACCACAGAAAAATGAAACTTCATTTTCAGTTAATAAGAAAAAACGTTTTTGACATGATCTGTTATTTTTTACTTTGCCAATTTGTAAGGCTACTAAATGATTCTTTAAACTTTTCAAACTCTCACTCTGGGAAATCATTTCTTACAGTTAAAAACAAAATTCTACTGTCTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGACTGAGGCGGGCGGATTGCTTGAGGC... | benign | 289,028 |
Variant on chromosome 18, at position 31521213, affecting DSG2 (desmoglein 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10', 'Dilated_cardiomyopathy_1BB'] | ATCTGTTATTTTTTACTTTGCCAATTTGTAAGGCTACTAAATGATTCTTTAAACTTTTCAAACTCTCACTCTGGGAAATCATTTCTTACAGTTAAAAACAAAATTCTACTGTCTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGACTGAGGCGGGCGGATTGCTTGAGGCTTGAGTCTAGGAGTTCAAGGCCAGCTTAGGCAACATGGTGAAACCCCATAGCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGTGCATGCCTGTAATCCCAGCTTCTTAGGAGGCTGAGGCAGGAAGATGGCTTGA... | ATCTGTTATTTTTTACTTTGCCAATTTGTAAGGCTACTAAATGATTCTTTAAACTTTTCAAACTCTCACTCTGGGAAATCATTTCTTACAGTTAAAAACAAAATTCTACTGTCTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGACTGAGGCGGGCGGATTGCTTGAGGCTTGAGTCTAGGAGTTCAAGGCCAGCTTAGGCAACATGGTGAAACCCCATAGCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGTGCATGCCTGTAATCCCAGCTTCTTAGGAGGCTGAGGCAGGAAGATGGCTTGA... | pathogenic | 289,038 |
Determine if the mutation at chromosome 18, position 31521227 in gene DSG2 (desmoglein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10', 'Dilated_cardiomyopathy_1BB'] | ACTTTGCCAATTTGTAAGGCTACTAAATGATTCTTTAAACTTTTCAAACTCTCACTCTGGGAAATCATTTCTTACAGTTAAAAACAAAATTCTACTGTCTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGACTGAGGCGGGCGGATTGCTTGAGGCTTGAGTCTAGGAGTTCAAGGCCAGCTTAGGCAACATGGTGAAACCCCATAGCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGTGCATGCCTGTAATCCCAGCTTCTTAGGAGGCTGAGGCAGGAAGATGGCTTGATCCGGGGAAGTCAA... | ACTTTGCCAATTTGTAAGGCTACTAAATGATTCTTTAAACTTTTCAAACTCTCACTCTGGGAAATCATTTCTTACAGTTAAAAACAAAATTCTACTGTCTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGACTGAGGCGGGCGGATTGCTTGAGGCTTGAGTCTAGGAGTTCAAGGCCAGCTTAGGCAACATGGTGAAACCCCATAGCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGTGCATGCCTGTAATCCCAGCTTCTTAGGAGGCTGAGGCAGGAAGATGGCTTGATCCGGGGAAGTCAA... | pathogenic | 289,039 |
Considering the variant on chromosome 18, location 31521243, involving gene DSG2 (desmoglein 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10', 'Dilated_cardiomyopathy_1BB'] | AGGCTACTAAATGATTCTTTAAACTTTTCAAACTCTCACTCTGGGAAATCATTTCTTACAGTTAAAAACAAAATTCTACTGTCTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGACTGAGGCGGGCGGATTGCTTGAGGCTTGAGTCTAGGAGTTCAAGGCCAGCTTAGGCAACATGGTGAAACCCCATAGCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGTGCATGCCTGTAATCCCAGCTTCTTAGGAGGCTGAGGCAGGAAGATGGCTTGATCCGGGGAAGTCAAGGCTACAGTGAGCCAA... | AGGCTACTAAATGATTCTTTAAACTTTTCAAACTCTCACTCTGGGAAATCATTTCTTACAGTTAAAAACAAAATTCTACTGTCTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGACTGAGGCGGGCGGATTGCTTGAGGCTTGAGTCTAGGAGTTCAAGGCCAGCTTAGGCAACATGGTGAAACCCCATAGCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGTGCATGCCTGTAATCCCAGCTTCTTAGGAGGCTGAGGCAGGAAGATGGCTTGATCCGGGGAAGTCAAGGCTACAGTGAGCCAA... | pathogenic | 289,041 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 18, position 31521252, gene DSG2 (desmoglein 2). What disease(s) is it linked to if pathogenic? | benign | AATGATTCTTTAAACTTTTCAAACTCTCACTCTGGGAAATCATTTCTTACAGTTAAAAACAAAATTCTACTGTCTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGACTGAGGCGGGCGGATTGCTTGAGGCTTGAGTCTAGGAGTTCAAGGCCAGCTTAGGCAACATGGTGAAACCCCATAGCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGTGCATGCCTGTAATCCCAGCTTCTTAGGAGGCTGAGGCAGGAAGATGGCTTGATCCGGGGAAGTCAAGGCTACAGTGAGCCAAGATCATGCC... | AATGATTCTTTAAACTTTTCAAACTCTCACTCTGGGAAATCATTTCTTACAGTTAAAAACAAAATTCTACTGTCTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGACTGAGGCGGGCGGATTGCTTGAGGCTTGAGTCTAGGAGTTCAAGGCCAGCTTAGGCAACATGGTGAAACCCCATAGCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGTGCATGCCTGTAATCCCAGCTTCTTAGGAGGCTGAGGCAGGAAGATGGCTTGATCCGGGGAAGTCAAGGCTACAGTGAGCCAAGATCATGCC... | benign | 289,043 |
Variant in gene DSG2 (desmoglein 2), located at chromosome 18 position 31521252: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AATGATTCTTTAAACTTTTCAAACTCTCACTCTGGGAAATCATTTCTTACAGTTAAAAACAAAATTCTACTGTCTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGACTGAGGCGGGCGGATTGCTTGAGGCTTGAGTCTAGGAGTTCAAGGCCAGCTTAGGCAACATGGTGAAACCCCATAGCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGTGCATGCCTGTAATCCCAGCTTCTTAGGAGGCTGAGGCAGGAAGATGGCTTGATCCGGGGAAGTCAAGGCTACAGTGAGCCAAGATCATGCC... | AATGATTCTTTAAACTTTTCAAACTCTCACTCTGGGAAATCATTTCTTACAGTTAAAAACAAAATTCTACTGTCTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGACTGAGGCGGGCGGATTGCTTGAGGCTTGAGTCTAGGAGTTCAAGGCCAGCTTAGGCAACATGGTGAAACCCCATAGCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGTGCATGCCTGTAATCCCAGCTTCTTAGGAGGCTGAGGCAGGAAGATGGCTTGATCCGGGGAAGTCAAGGCTACAGTGAGCCAAGATCATGCC... | benign | 289,044 |
Variant at chromosome 18, position 31521252, gene DSG2 (desmoglein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AATGATTCTTTAAACTTTTCAAACTCTCACTCTGGGAAATCATTTCTTACAGTTAAAAACAAAATTCTACTGTCTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGACTGAGGCGGGCGGATTGCTTGAGGCTTGAGTCTAGGAGTTCAAGGCCAGCTTAGGCAACATGGTGAAACCCCATAGCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGTGCATGCCTGTAATCCCAGCTTCTTAGGAGGCTGAGGCAGGAAGATGGCTTGATCCGGGGAAGTCAAGGCTACAGTGAGCCAAGATCATGCC... | AATGATTCTTTAAACTTTTCAAACTCTCACTCTGGGAAATCATTTCTTACAGTTAAAAACAAAATTCTACTGTCTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGACTGAGGCGGGCGGATTGCTTGAGGCTTGAGTCTAGGAGTTCAAGGCCAGCTTAGGCAACATGGTGAAACCCCATAGCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGTGCATGCCTGTAATCCCAGCTTCTTAGGAGGCTGAGGCAGGAAGATGGCTTGATCCGGGGAAGTCAAGGCTACAGTGAGCCAAGATCATGCC... | benign | 289,045 |
Regarding the variant at chromosome 18 and position 31522188, affecting gene DSG2 (desmoglein 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10', 'Cardiovascular_phenotype'] | ATGCAGCATCATTGGCAAAAATATAGATAACTTTGAGTTTTGATTTAACTAAGAGTAAAGGGATTTGGCACTGGTAACACAAAATGTTCAGTGCTCAAAAGAGGATGTCATAAAATGTCATTTTCAAGATGAACTGGTGTCTATTACTAGGTAGGGGGACCATCTTCATCTGCCTGAGACAGTCGTGGTTTATGCCTGCTCTCCTGGCTTAATAATTAATATCTGTGTTTTCACTCTCAAGGGGTCCAATTTTTTTGATAAATTATGTGATAGTGTTGCTACTCTATATTTCAAAGTTGGCATGCACAAACATAAACCCT... | ATGCAGCATCATTGGCAAAAATATAGATAACTTTGAGTTTTGATTTAACTAAGAGTAAAGGGATTTGGCACTGGTAACACAAAATGTTCAGTGCTCAAAAGAGGATGTCATAAAATGTCATTTTCAAGATGAACTGGTGTCTATTACTAGGTAGGGGGACCATCTTCATCTGCCTGAGACAGTCGTGGTTTATGCCTGCTCTCCTGGCTTAATAATTAATATCTGTGTTTTCACTCTCAAGGGGTCCAATTTTTTTGATAAATTATGTGATAGTGTTGCTACTCTATATTTCAAAGTTGGCATGCACAAACATAAACCCT... | pathogenic | 289,059 |
Mutation found at chromosome 18 position 31524559, gene DSG2 (desmoglein 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10'] | GAAAAATGCAAAATATGACCTTAATGTTTTTTGTGATCATTGCATGTTAAAATAATATTTTAGATATCATAGATTAAATAAAATATACTTGTTTAAAATTGTTATCATGTGTTTCTTTTTAAAATGTGGCTACTAGAAGATTTAAAATTACATAAAAACAGCACCATTCTAGGGCCTCTCCTATCAGGGTTCTGTTTACTAGAGGTTCCTAAAACATTTCTCAGTTTGCAGTTCTCTAATGAAACATTAGGAGGCTCCTCCACGGCTAGTACGTAGGAGGCAGTGAGGAAAGGGATGAAAATAGGAATCCTAGTTAGAGA... | GAAAAATGCAAAATATGACCTTAATGTTTTTTGTGATCATTGCATGTTAAAATAATATTTTAGATATCATAGATTAAATAAAATATACTTGTTTAAAATTGTTATCATGTGTTTCTTTTTAAAATGTGGCTACTAGAAGATTTAAAATTACATAAAAACAGCACCATTCTAGGGCCTCTCCTATCAGGGTTCTGTTTACTAGAGGTTCCTAAAACATTTCTCAGTTTGCAGTTCTCTAATGAAACATTAGGAGGCTCCTCCACGGCTAGTACGTAGGAGGCAGTGAGGAAAGGGATGAAAATAGGAATCCTAGTTAGAGA... | pathogenic | 289,070 |
Does the variant on chromosome 18 at location 31524683 affecting gene DSG2 (desmoglein 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TGTGGCTACTAGAAGATTTAAAATTACATAAAAACAGCACCATTCTAGGGCCTCTCCTATCAGGGTTCTGTTTACTAGAGGTTCCTAAAACATTTCTCAGTTTGCAGTTCTCTAATGAAACATTAGGAGGCTCCTCCACGGCTAGTACGTAGGAGGCAGTGAGGAAAGGGATGAAAATAGGAATCCTAGTTAGAGAATAAAAGTATCTGTAAAGGAGAGAATTACTCTAAATCCCAAATTGAAGGAAAGTTTGAGTAGGTTTACTAGGAAGGCATTTCTCTCGAACATTTCACTTTATTATTTCTAACTGAAAGGGAAAT... | TGTGGCTACTAGAAGATTTAAAATTACATAAAAACAGCACCATTCTAGGGCCTCTCCTATCAGGGTTCTGTTTACTAGAGGTTCCTAAAACATTTCTCAGTTTGCAGTTCTCTAATGAAACATTAGGAGGCTCCTCCACGGCTAGTACGTAGGAGGCAGTGAGGAAAGGGATGAAAATAGGAATCCTAGTTAGAGAATAAAAGTATCTGTAAAGGAGAGAATTACTCTAAATCCCAAATTGAAGGAAAGTTTGAGTAGGTTTACTAGGAAGGCATTTCTCTCGAACATTTCACTTTATTATTTCTAACTGAAAGGGAAAT... | benign | 289,074 |
The chromosome 18, position 31524744 genetic variant in gene DSG2 (desmoglein 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10'] | AGGGTTCTGTTTACTAGAGGTTCCTAAAACATTTCTCAGTTTGCAGTTCTCTAATGAAACATTAGGAGGCTCCTCCACGGCTAGTACGTAGGAGGCAGTGAGGAAAGGGATGAAAATAGGAATCCTAGTTAGAGAATAAAAGTATCTGTAAAGGAGAGAATTACTCTAAATCCCAAATTGAAGGAAAGTTTGAGTAGGTTTACTAGGAAGGCATTTCTCTCGAACATTTCACTTTATTATTTCTAACTGAAAGGGAAATTTTTAAATAAAAAGGGGAGATAGAAGATTTTTTAAATGCTGTATACATAAAGGTTTTAACA... | AGGGTTCTGTTTACTAGAGGTTCCTAAAACATTTCTCAGTTTGCAGTTCTCTAATGAAACATTAGGAGGCTCCTCCACGGCTAGTACGTAGGAGGCAGTGAGGAAAGGGATGAAAATAGGAATCCTAGTTAGAGAATAAAAGTATCTGTAAAGGAGAGAATTACTCTAAATCCCAAATTGAAGGAAAGTTTGAGTAGGTTTACTAGGAAGGCATTTCTCTCGAACATTTCACTTTATTATTTCTAACTGAAAGGGAAATTTTTAAATAAAAAGGGGAGATAGAAGATTTTTTAAATGCTGTATACATAAAGGTTTTAACA... | pathogenic | 289,079 |
Determine if the mutation at chromosome 18, position 31524752 in gene DSG2 (desmoglein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_10', 'Dilated_cardiomyopathy_1BB'] | GTTTACTAGAGGTTCCTAAAACATTTCTCAGTTTGCAGTTCTCTAATGAAACATTAGGAGGCTCCTCCACGGCTAGTACGTAGGAGGCAGTGAGGAAAGGGATGAAAATAGGAATCCTAGTTAGAGAATAAAAGTATCTGTAAAGGAGAGAATTACTCTAAATCCCAAATTGAAGGAAAGTTTGAGTAGGTTTACTAGGAAGGCATTTCTCTCGAACATTTCACTTTATTATTTCTAACTGAAAGGGAAATTTTTAAATAAAAAGGGGAGATAGAAGATTTTTTAAATGCTGTATACATAAAGGTTTTAACAGCGTACAA... | GTTTACTAGAGGTTCCTAAAACATTTCTCAGTTTGCAGTTCTCTAATGAAACATTAGGAGGCTCCTCCACGGCTAGTACGTAGGAGGCAGTGAGGAAAGGGATGAAAATAGGAATCCTAGTTAGAGAATAAAAGTATCTGTAAAGGAGAGAATTACTCTAAATCCCAAATTGAAGGAAAGTTTGAGTAGGTTTACTAGGAAGGCATTTCTCTCGAACATTTCACTTTATTATTTCTAACTGAAAGGGAAATTTTTAAATAAAAAGGGGAGATAGAAGATTTTTTAAATGCTGTATACATAAAGGTTTTAACAGCGTACAA... | pathogenic | 289,082 |
The mutation in gene DSG2 (desmoglein 2) at chromosome 18, position 31530985—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10', 'Cardiomyopathy', 'Cardiovascular_phenotype'] | GTGATGATTGCAAATCCAGAACTCATCATGCTGTACACTTAAAATGGGCAAATTTTATTGTATATAAGTTATACCTGAATGAAGCTGTCCAAAAAGGATAAAGGAGATGAACGGATATTTTTAAATATGGAAATAGAGATAGTAAATAGTCACATGAGAAAAATTCACAGCTTTGTTAACAAATTAACAAATAAACTTACAATCTTTAATGTTATTAAAAAATAGCAAAAATGGAAATGATAAAATAAGTTTACAGAGTTGTAAAAAATAGAGGTCTATTCCCTCACACAGCGCTCTTGATACTGAAAATTTTCCATTTG... | GTGATGATTGCAAATCCAGAACTCATCATGCTGTACACTTAAAATGGGCAAATTTTATTGTATATAAGTTATACCTGAATGAAGCTGTCCAAAAAGGATAAAGGAGATGAACGGATATTTTTAAATATGGAAATAGAGATAGTAAATAGTCACATGAGAAAAATTCACAGCTTTGTTAACAAATTAACAAATAAACTTACAATCTTTAATGTTATTAAAAAATAGCAAAAATGGAAATGATAAAATAAGTTTACAGAGTTGTAAAAAATAGAGGTCTATTCCCTCACACAGCGCTCTTGATACTGAAAATTTTCCATTTG... | pathogenic | 289,096 |
Gene mutation in DSG2 (desmoglein 2) at chromosome 18, position 31535305—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1BB', 'likely other unspecified diseases'] | CCAGGAGTTCAAGACCAACCTGGGCAACACAGCAAGACCTTGTCTCTACAAAAAAAAATTTTTTTTTCAATTAGCCAGGCATGGTGGCACATGTTTGTAGTCCCCACTACTGGGGAGGCTTAGACAGGGGGATTGCTTAAGCCTAGGAGTTCAAGGTTCCAGCGAGTTGCCATCACACCACTGCATTCCAGACTGTTTGTCATAATTTACTGTTTTATTGATTATTCATGTGTATCAGCTGTTTACAGATATTTGATATAACATGTAAGCAGCTATGCTACTTGAATGATGTCTAGCTTTTACAACAGAGAACAGAAGAT... | CCAGGAGTTCAAGACCAACCTGGGCAACACAGCAAGACCTTGTCTCTACAAAAAAAAATTTTTTTTTCAATTAGCCAGGCATGGTGGCACATGTTTGTAGTCCCCACTACTGGGGAGGCTTAGACAGGGGGATTGCTTAAGCCTAGGAGTTCAAGGTTCCAGCGAGTTGCCATCACACCACTGCATTCCAGACTGTTTGTCATAATTTACTGTTTTATTGATTATTCATGTGTATCAGCTGTTTACAGATATTTGATATAACATGTAAGCAGCTATGCTACTTGAATGATGTCTAGCTTTTACAACAGAGAACAGAAGAT... | pathogenic | 289,120 |
Is the chromosome 18, position 31535370 variant in DSG2 (desmoglein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10'] | TTCAATTAGCCAGGCATGGTGGCACATGTTTGTAGTCCCCACTACTGGGGAGGCTTAGACAGGGGGATTGCTTAAGCCTAGGAGTTCAAGGTTCCAGCGAGTTGCCATCACACCACTGCATTCCAGACTGTTTGTCATAATTTACTGTTTTATTGATTATTCATGTGTATCAGCTGTTTACAGATATTTGATATAACATGTAAGCAGCTATGCTACTTGAATGATGTCTAGCTTTTACAACAGAGAACAGAAGATTTCTTAAATGAGATTAAGCAAACACATTGTGAAATGTAATCCCTATTTCTAAGACTCTGCCTTTA... | TTCAATTAGCCAGGCATGGTGGCACATGTTTGTAGTCCCCACTACTGGGGAGGCTTAGACAGGGGGATTGCTTAAGCCTAGGAGTTCAAGGTTCCAGCGAGTTGCCATCACACCACTGCATTCCAGACTGTTTGTCATAATTTACTGTTTTATTGATTATTCATGTGTATCAGCTGTTTACAGATATTTGATATAACATGTAAGCAGCTATGCTACTTGAATGATGTCTAGCTTTTACAACAGAGAACAGAAGATTTCTTAAATGAGATTAAGCAAACACATTGTGAAATGTAATCCCTATTTCTAAGACTCTGCCTTTA... | pathogenic | 289,123 |
Does the chromosome 18 mutation at position 31536210 within gene DSG2 (desmoglein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_10'] | ATTTTTAGTAGAGATGGGGTTTTAACCTGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCATCCAACTCGGCTTCCCGAAGTGCTAGGATTATAGGTGTGAGCCACCATGCTTGGCCAGTTACATACGTTTCTGAAAACATAATATGGACATTTGCCTTGCTCTCCCAGCATTGGCTCCTTCCACACTAATTCTCCTTGCTTTGAGGGAAGAAACCCAGAAACGATTTTATCGGCATTGTTTCCACTTTTAACCAGTTCTGCCTGAAAGAAAATTATTACCCCAATAATCAACAGTATCAGAAAATTTGTA... | ATTTTTAGTAGAGATGGGGTTTTAACCTGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCATCCAACTCGGCTTCCCGAAGTGCTAGGATTATAGGTGTGAGCCACCATGCTTGGCCAGTTACATACGTTTCTGAAAACATAATATGGACATTTGCCTTGCTCTCCCAGCATTGGCTCCTTCCACACTAATTCTCCTTGCTTTGAGGGAAGAAACCCAGAAACGATTTTATCGGCATTGTTTCCACTTTTAACCAGTTCTGCCTGAAAGAAAATTATTACCCCAATAATCAACAGTATCAGAAAATTTGTA... | pathogenic | 289,126 |
Variant at chromosome position 31538922, chromosome 18, gene DSG2 (desmoglein 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1BB'] | ATACCTTGGTTTAACTGGGGGTAAGTAAAGCTCAAACCTAGAACATGATAGAAACAACATAACAGGGGAGTTATCTGATTCCCCCCTTCCCCATGTCAGTGGACATGTCCATATGTCCACATCCAGGACATCTAGACACATGGACCATATGATGTGTTGATGTGAGTTTTCAGATGTCCTTCAGGGTGGTTCTGAATGCAGAAAAGTCTATCCAGAAAACTATTTTGTTTTAAACAACTAGGGTTCATTTCAGTAAAATTTCAAAGACAATAGTCAGTTTTTTTTTTAATTTACAGCTTTATTGTGTTAAGTCTAGCAAA... | ATACCTTGGTTTAACTGGGGGTAAGTAAAGCTCAAACCTAGAACATGATAGAAACAACATAACAGGGGAGTTATCTGATTCCCCCCTTCCCCATGTCAGTGGACATGTCCATATGTCCACATCCAGGACATCTAGACACATGGACCATATGATGTGTTGATGTGAGTTTTCAGATGTCCTTCAGGGTGGTTCTGAATGCAGAAAAGTCTATCCAGAAAACTATTTTGTTTTAAACAACTAGGGTTCATTTCAGTAAAATTTCAAAGACAATAGTCAGTTTTTTTTTTAATTTACAGCTTTATTGTGTTAAGTCTAGCAAA... | pathogenic | 289,149 |
The mutation impacting DSG2 (desmoglein 2) on chromosome 18 at position 31541313: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10'] | AGCATGCTGTCTGTTCTCTTCACTGCTGTATTCCCAGTGTGTGGAACAGAGCCTTGCATGTAGTAAGCGCTCAAAAAAGATGTGTTGCATGACTTTGGGTTATGGGCACAAGGTTTTTTACAAACCCAGTTTATTCCAATCAATCCTGCTTTGTACATTCAACTTATCAGAGCTCCGCCTCCCTGATATTCCCCGCTTGCCTTGTTTCTTCGTCAGCACCAAAAGTAGGCAGACCCTCTGAGCACTTCCTGTCCTTCCTGACCGTAAGATGTTCTCAACCAGTCCTGCCTGCCCTACCCACGCTCCAAAGACCTCGGGTT... | AGCATGCTGTCTGTTCTCTTCACTGCTGTATTCCCAGTGTGTGGAACAGAGCCTTGCATGTAGTAAGCGCTCAAAAAAGATGTGTTGCATGACTTTGGGTTATGGGCACAAGGTTTTTTACAAACCCAGTTTATTCCAATCAATCCTGCTTTGTACATTCAACTTATCAGAGCTCCGCCTCCCTGATATTCCCCGCTTGCCTTGTTTCTTCGTCAGCACCAAAAGTAGGCAGACCCTCTGAGCACTTCCTGTCCTTCCTGACCGTAAGATGTTCTCAACCAGTCCTGCCTGCCCTACCCACGCTCCAAAGACCTCGGGTT... | pathogenic | 289,166 |
Is the variant located on chromosome 18 at position 31542771, gene DSG2, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10', 'Dilated_cardiomyopathy_1BB'] | TTTGCTTCCTCCTAGGGGTAAAATAAAATCTAAGAAGAGGGCTCTGAAATTGTTATATGTTTCACTTTATTATTTCTAATTACTGTTTTCAATAGTACATATATTTTTGCAACAGTGATTTTTTTTTAATTGGACCATAGTTTTAAAAAAATTAATCTTTAAGCTGGTTTTGATGATTTGGATACTATCTGAACCTAGTCTTGGTATTCCACTCAGCAGCCACAGACAGCCTCTTTTTGATGAACAAGGCCTTGAATCTGTAAGACTCCCTCATCCTGCCTTCGGGTTTTGGAGTAATTCACCCAAAACAAGCTTGGTAA... | TTTGCTTCCTCCTAGGGGTAAAATAAAATCTAAGAAGAGGGCTCTGAAATTGTTATATGTTTCACTTTATTATTTCTAATTACTGTTTTCAATAGTACATATATTTTTGCAACAGTGATTTTTTTTTAATTGGACCATAGTTTTAAAAAAATTAATCTTTAAGCTGGTTTTGATGATTTGGATACTATCTGAACCTAGTCTTGGTATTCCACTCAGCAGCCACAGACAGCCTCTTTTTGATGAACAAGGCCTTGAATCTGTAAGACTCCCTCATCCTGCCTTCGGGTTTTGGAGTAATTCACCCAAAACAAGCTTGGTAA... | pathogenic | 289,184 |
The genetic variant at chromosome 18, position 31545708, affecting gene DSG2: benign or pathogenic? Disease name(s) if pathogenic? | benign | GTTCAAGACCAGCTTGGGCAATATGTTAAAACCCTATCTCTCCAAAAATACAAAAAATTAGCTGGGCATGCTGGCACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTAGGGGGATCACTTGAGCCTGGAAAGCCAAGGATGCAGTGAGCTGTGATCATACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCTGTCTAAAAAAAAAAAAAAAAAAAAGTATAACATAGAGATAAAGTATACTTCAGAACAAGGAATATTACCAGGAATAATGAGGGATAGTTCATAATGAAAAATGAGTCAGTTCATCAGGA... | GTTCAAGACCAGCTTGGGCAATATGTTAAAACCCTATCTCTCCAAAAATACAAAAAATTAGCTGGGCATGCTGGCACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTAGGGGGATCACTTGAGCCTGGAAAGCCAAGGATGCAGTGAGCTGTGATCATACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCTGTCTAAAAAAAAAAAAAAAAAAAAGTATAACATAGAGATAAAGTATACTTCAGAACAAGGAATATTACCAGGAATAATGAGGGATAGTTCATAATGAAAAATGAGTCAGTTCATCAGGA... | benign | 289,190 |
Benign or pathogenic: chromosome 18, position 31545753, gene DSG2 variant? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10'] | AAATACAAAAAATTAGCTGGGCATGCTGGCACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTAGGGGGATCACTTGAGCCTGGAAAGCCAAGGATGCAGTGAGCTGTGATCATACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCTGTCTAAAAAAAAAAAAAAAAAAAAGTATAACATAGAGATAAAGTATACTTCAGAACAAGGAATATTACCAGGAATAATGAGGGATAGTTCATAATGAAAAATGAGTCAGTTCATCAGGAGGCCTGAAACTCCTAAATATGTCAGAACCTAATAACAGAAATTTT... | AAATACAAAAAATTAGCTGGGCATGCTGGCACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTAGGGGGATCACTTGAGCCTGGAAAGCCAAGGATGCAGTGAGCTGTGATCATACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCTGTCTAAAAAAAAAAAAAAAAAAAAGTATAACATAGAGATAAAGTATACTTCAGAACAAGGAATATTACCAGGAATAATGAGGGATAGTTCATAATGAAAAATGAGTCAGTTCATCAGGAGGCCTGAAACTCCTAAATATGTCAGAACCTAATAACAGAAATTTT... | pathogenic | 289,197 |
Gene mutation in DSG2 at chromosome 18, position 31545760—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10', 'Dilated_cardiomyopathy_1BB'] | AAAAATTAGCTGGGCATGCTGGCACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTAGGGGGATCACTTGAGCCTGGAAAGCCAAGGATGCAGTGAGCTGTGATCATACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCTGTCTAAAAAAAAAAAAAAAAAAAAGTATAACATAGAGATAAAGTATACTTCAGAACAAGGAATATTACCAGGAATAATGAGGGATAGTTCATAATGAAAAATGAGTCAGTTCATCAGGAGGCCTGAAACTCCTAAATATGTCAGAACCTAATAACAGAAATTTTTAAAACT... | AAAAATTAGCTGGGCATGCTGGCACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTAGGGGGATCACTTGAGCCTGGAAAGCCAAGGATGCAGTGAGCTGTGATCATACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCTGTCTAAAAAAAAAAAAAAAAAAAAGTATAACATAGAGATAAAGTATACTTCAGAACAAGGAATATTACCAGGAATAATGAGGGATAGTTCATAATGAAAAATGAGTCAGTTCATCAGGAGGCCTGAAACTCCTAAATATGTCAGAACCTAATAACAGAAATTTTTAAAACT... | pathogenic | 289,199 |
Regarding the variant found on chromosome 18 at position 31545913 in gene DSG2: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10'] | AAAAAAAAAAAAAAAAAAAAGTATAACATAGAGATAAAGTATACTTCAGAACAAGGAATATTACCAGGAATAATGAGGGATAGTTCATAATGAAAAATGAGTCAGTTCATCAGGAGGCCTGAAACTCCTAAATATGTCAGAACCTAATAACAGAAATTTTTAAAACTTAAAGCAAAAACAACTGAAAGAGAAACAGACAAATTCATAATGATAGTTGGAGAGTTCAACCTGATCTATCAGTAAATGAAAGAACAAGTGACAGAATCAGTAAGCATATAGAAAACTTAGTACTGTGAACCAAATGGATCTAGTTGATACTG... | AAAAAAAAAAAAAAAAAAAAGTATAACATAGAGATAAAGTATACTTCAGAACAAGGAATATTACCAGGAATAATGAGGGATAGTTCATAATGAAAAATGAGTCAGTTCATCAGGAGGCCTGAAACTCCTAAATATGTCAGAACCTAATAACAGAAATTTTTAAAACTTAAAGCAAAAACAACTGAAAGAGAAACAGACAAATTCATAATGATAGTTGGAGAGTTCAACCTGATCTATCAGTAAATGAAAGAACAAGTGACAGAATCAGTAAGCATATAGAAAACTTAGTACTGTGAACCAAATGGATCTAGTTGATACTG... | pathogenic | 289,208 |
Clinical classification of chromosome 18, position 31545934, gene DSG2: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_10', 'Cardiovascular_phenotype'] | TATAACATAGAGATAAAGTATACTTCAGAACAAGGAATATTACCAGGAATAATGAGGGATAGTTCATAATGAAAAATGAGTCAGTTCATCAGGAGGCCTGAAACTCCTAAATATGTCAGAACCTAATAACAGAAATTTTTAAAACTTAAAGCAAAAACAACTGAAAGAGAAACAGACAAATTCATAATGATAGTTGGAGAGTTCAACCTGATCTATCAGTAAATGAAAGAACAAGTGACAGAATCAGTAAGCATATAGAAAACTTAGTACTGTGAACCAAATGGATCTAGTTGATACTGACAGAACACTCTATGCAACAG... | TATAACATAGAGATAAAGTATACTTCAGAACAAGGAATATTACCAGGAATAATGAGGGATAGTTCATAATGAAAAATGAGTCAGTTCATCAGGAGGCCTGAAACTCCTAAATATGTCAGAACCTAATAACAGAAATTTTTAAAACTTAAAGCAAAAACAACTGAAAGAGAAACAGACAAATTCATAATGATAGTTGGAGAGTTCAACCTGATCTATCAGTAAATGAAAGAACAAGTGACAGAATCAGTAAGCATATAGAAAACTTAGTACTGTGAACCAAATGGATCTAGTTGATACTGACAGAACACTCTATGCAACAG... | pathogenic | 289,210 |
A mutation at chromosome position 31546371 on chromosome 18 in gene DSG2: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_10', 'Dilated_cardiomyopathy_1BB'] | AGAGATCAGTAACAAAGAGATATATAAAATATACTCAAATATTTATAAATACACATGACTGCAAATTAAATTATACTTCATGAAAATTTGTGGGGTACTACTAAAGTGATGCTTGAAGGGAAATTGTAGCAAAAATGGCTATATTAGAAGATGGTTCTCAAATCAGTGACCTAAGCTTCCACCCTCAGAAGTTAGAAGAGCAAATTAAACCCAAAACAAGCAGAAATAAGATAATGATGAATTTTAGAGCAGAAATCAATGAAATATTTAGCAAAAAGTAATAAGAAAAAAAATTGAAGCCACAAGCTTATTATTTAAAG... | AGAGATCAGTAACAAAGAGATATATAAAATATACTCAAATATTTATAAATACACATGACTGCAAATTAAATTATACTTCATGAAAATTTGTGGGGTACTACTAAAGTGATGCTTGAAGGGAAATTGTAGCAAAAATGGCTATATTAGAAGATGGTTCTCAAATCAGTGACCTAAGCTTCCACCCTCAGAAGTTAGAAGAGCAAATTAAACCCAAAACAAGCAGAAATAAGATAATGATGAATTTTAGAGCAGAAATCAATGAAATATTTAGCAAAAAGTAATAAGAAAAAAAATTGAAGCCACAAGCTTATTATTTAAAG... | pathogenic | 289,242 |
Benign or pathogenic: chromosome 18, position 31595139, gene TTR (transthyretin) variant? Disease(s) if pathogenic? | pathogenic; ['Amyloidosis,_hereditary_systemic_1', 'Cardiovascular_phenotype'] | AGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGAT... | AGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGAT... | pathogenic | 289,329 |
Gene mutation in TTR (transthyretin) at chromosome 18, position 31595139—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Amyloidosis,_hereditary_systemic_1', 'Cardiovascular_phenotype'] | AGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGAT... | AGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGAT... | pathogenic | 289,330 |
Chromosome 18, position 31598651, gene TTR (transthyretin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Amyloidosis,_hereditary_systemic_1'] | TTGTTCTCTTTCATTAGATCTTAGCTTCCTTGTCTGCTCTTCATTCTTGCAGTATTCATTCAACAAACATTAAAAAAAAAAAAAAGCATTCTATGTGTGGAACACTCTGCTAGATGCTGTGGATTTAGAAATGAAAATACATCCCGACCCTTGGAATGGAAGGGAAAGGACTGAAGTAAGACAGATTAAGCAGGACCGTCAGCCCAGCTTGAAGCCCAGATAAATACGGAGAACAAGAGAGAGCGAGTAGTGAGAGATGAGTCCCAATGCCTCACTTTGGTGACGGGTGCGTGGTGGGCTTCATGCAGCTTCTTCTGATA... | TTGTTCTCTTTCATTAGATCTTAGCTTCCTTGTCTGCTCTTCATTCTTGCAGTATTCATTCAACAAACATTAAAAAAAAAAAAAAGCATTCTATGTGTGGAACACTCTGCTAGATGCTGTGGATTTAGAAATGAAAATACATCCCGACCCTTGGAATGGAAGGGAAAGGACTGAAGTAAGACAGATTAAGCAGGACCGTCAGCCCAGCTTGAAGCCCAGATAAATACGGAGAACAAGAGAGAGCGAGTAGTGAGAGATGAGTCCCAATGCCTCACTTTGGTGACGGGTGCGTGGTGGGCTTCATGCAGCTTCTTCTGATA... | pathogenic | 289,373 |
The chromosome 18, position 31598677 genetic variant in gene TTR (transthyretin): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TCCTTGTCTGCTCTTCATTCTTGCAGTATTCATTCAACAAACATTAAAAAAAAAAAAAAGCATTCTATGTGTGGAACACTCTGCTAGATGCTGTGGATTTAGAAATGAAAATACATCCCGACCCTTGGAATGGAAGGGAAAGGACTGAAGTAAGACAGATTAAGCAGGACCGTCAGCCCAGCTTGAAGCCCAGATAAATACGGAGAACAAGAGAGAGCGAGTAGTGAGAGATGAGTCCCAATGCCTCACTTTGGTGACGGGTGCGTGGTGGGCTTCATGCAGCTTCTTCTGATAAATGCCTCCTTCAGAACTGGTCAACT... | TCCTTGTCTGCTCTTCATTCTTGCAGTATTCATTCAACAAACATTAAAAAAAAAAAAAAGCATTCTATGTGTGGAACACTCTGCTAGATGCTGTGGATTTAGAAATGAAAATACATCCCGACCCTTGGAATGGAAGGGAAAGGACTGAAGTAAGACAGATTAAGCAGGACCGTCAGCCCAGCTTGAAGCCCAGATAAATACGGAGAACAAGAGAGAGCGAGTAGTGAGAGATGAGTCCCAATGCCTCACTTTGGTGACGGGTGCGTGGTGGGCTTCATGCAGCTTCTTCTGATAAATGCCTCCTTCAGAACTGGTCAACT... | benign | 289,378 |
A genetic variant on chromosome 18, position 33738498, affects the gene ASXL3 (ASXL transcriptional regulator 3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome'] | TGAACATTTCATTGACTGCCCTTCTTTGTTGCCCCCAGGTTACCTTTATTCCCCCACCACCAGCCAGTTTTTAGTTGACTGACACCACGTGCCTTTTCATTGCTGTACGCTTTTTCAAAAATGTGTCTAAACATTCATACTAGTGTGCAGTTAAGATCTGTCTGATTTAGTTTTCAATTTTTTTAGATATTTATTATGATTCTCACTTGCCTAATCTCTTTGTAATATATTATTGTATATTTGGTTTACATCACTTGTATAAATGCCAAGTATTACAGGGCTTGGCTTGTGAACTTGTGTCTAGATTTCTGGAGGCCAGG... | TGAACATTTCATTGACTGCCCTTCTTTGTTGCCCCCAGGTTACCTTTATTCCCCCACCACCAGCCAGTTTTTAGTTGACTGACACCACGTGCCTTTTCATTGCTGTACGCTTTTTCAAAAATGTGTCTAAACATTCATACTAGTGTGCAGTTAAGATCTGTCTGATTTAGTTTTCAATTTTTTTAGATATTTATTATGATTCTCACTTGCCTAATCTCTTTGTAATATATTATTGTATATTTGGTTTACATCACTTGTATAAATGCCAAGTATTACAGGGCTTGGCTTGTGAACTTGTGTCTAGATTTCTGGAGGCCAGG... | pathogenic | 289,416 |
Evaluate if the mutation on chromosome 18 at position 33738591 in ASXL3 (ASXL transcriptional regulator 3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome'] | TTTTCATTGCTGTACGCTTTTTCAAAAATGTGTCTAAACATTCATACTAGTGTGCAGTTAAGATCTGTCTGATTTAGTTTTCAATTTTTTTAGATATTTATTATGATTCTCACTTGCCTAATCTCTTTGTAATATATTATTGTATATTTGGTTTACATCACTTGTATAAATGCCAAGTATTACAGGGCTTGGCTTGTGAACTTGTGTCTAGATTTCTGGAGGCCAGGGTTTTCCTTTGCGTAGTATGGGGAACTGTGAACATCTTCCTCCTATGCCTTATGCAATCTTAAATCTATTTTTCCGTGAAAATAAGAAAATGT... | TTTTCATTGCTGTACGCTTTTTCAAAAATGTGTCTAAACATTCATACTAGTGTGCAGTTAAGATCTGTCTGATTTAGTTTTCAATTTTTTTAGATATTTATTATGATTCTCACTTGCCTAATCTCTTTGTAATATATTATTGTATATTTGGTTTACATCACTTGTATAAATGCCAAGTATTACAGGGCTTGGCTTGTGAACTTGTGTCTAGATTTCTGGAGGCCAGGGTTTTCCTTTGCGTAGTATGGGGAACTGTGAACATCTTCCTCCTATGCCTTATGCAATCTTAAATCTATTTTTCCGTGAAAATAAGAAAATGT... | pathogenic | 289,418 |
Chromosome 18, position 33738672, gene ASXL3 (ASXL transcriptional regulator 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases'] | CAATTTTTTTAGATATTTATTATGATTCTCACTTGCCTAATCTCTTTGTAATATATTATTGTATATTTGGTTTACATCACTTGTATAAATGCCAAGTATTACAGGGCTTGGCTTGTGAACTTGTGTCTAGATTTCTGGAGGCCAGGGTTTTCCTTTGCGTAGTATGGGGAACTGTGAACATCTTCCTCCTATGCCTTATGCAATCTTAAATCTATTTTTCCGTGAAAATAAGAAAATGTTGACATGGGTATATTTTATACAGTGCTGTTGTACATATACACTTACCTATATGTATATTTAATAATATTATTAACCAACTA... | CAATTTTTTTAGATATTTATTATGATTCTCACTTGCCTAATCTCTTTGTAATATATTATTGTATATTTGGTTTACATCACTTGTATAAATGCCAAGTATTACAGGGCTTGGCTTGTGAACTTGTGTCTAGATTTCTGGAGGCCAGGGTTTTCCTTTGCGTAGTATGGGGAACTGTGAACATCTTCCTCCTATGCCTTATGCAATCTTAAATCTATTTTTCCGTGAAAATAAGAAAATGTTGACATGGGTATATTTTATACAGTGCTGTTGTACATATACACTTACCTATATGTATATTTAATAATATTATTAACCAACTA... | pathogenic | 289,421 |
The mutation in gene ASXL3 (ASXL transcriptional regulator 3) at chromosome 18, position 33738777—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome'] | GCTTGGCTTGTGAACTTGTGTCTAGATTTCTGGAGGCCAGGGTTTTCCTTTGCGTAGTATGGGGAACTGTGAACATCTTCCTCCTATGCCTTATGCAATCTTAAATCTATTTTTCCGTGAAAATAAGAAAATGTTGACATGGGTATATTTTATACAGTGCTGTTGTACATATACACTTACCTATATGTATATTTAATAATATTATTAACCAACTAGCAGAAATTTGGCTGCCAGTGGATAGATTTCTGAATGTTACATACTTATTCTAGTATCAGTGGTACCTCTGCTTGACCTAGTCCCAAGGAACCGTATTTCTTGCA... | GCTTGGCTTGTGAACTTGTGTCTAGATTTCTGGAGGCCAGGGTTTTCCTTTGCGTAGTATGGGGAACTGTGAACATCTTCCTCCTATGCCTTATGCAATCTTAAATCTATTTTTCCGTGAAAATAAGAAAATGTTGACATGGGTATATTTTATACAGTGCTGTTGTACATATACACTTACCTATATGTATATTTAATAATATTATTAACCAACTAGCAGAAATTTGGCTGCCAGTGGATAGATTTCTGAATGTTACATACTTATTCTAGTATCAGTGGTACCTCTGCTTGACCTAGTCCCAAGGAACCGTATTTCTTGCA... | pathogenic | 289,423 |
Clinical classification of chromosome 18, position 33738790, gene ASXL3 (ASXL transcriptional regulator 3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases'] | ACTTGTGTCTAGATTTCTGGAGGCCAGGGTTTTCCTTTGCGTAGTATGGGGAACTGTGAACATCTTCCTCCTATGCCTTATGCAATCTTAAATCTATTTTTCCGTGAAAATAAGAAAATGTTGACATGGGTATATTTTATACAGTGCTGTTGTACATATACACTTACCTATATGTATATTTAATAATATTATTAACCAACTAGCAGAAATTTGGCTGCCAGTGGATAGATTTCTGAATGTTACATACTTATTCTAGTATCAGTGGTACCTCTGCTTGACCTAGTCCCAAGGAACCGTATTTCTTGCAGATTATTCTGCTT... | ACTTGTGTCTAGATTTCTGGAGGCCAGGGTTTTCCTTTGCGTAGTATGGGGAACTGTGAACATCTTCCTCCTATGCCTTATGCAATCTTAAATCTATTTTTCCGTGAAAATAAGAAAATGTTGACATGGGTATATTTTATACAGTGCTGTTGTACATATACACTTACCTATATGTATATTTAATAATATTATTAACCAACTAGCAGAAATTTGGCTGCCAGTGGATAGATTTCTGAATGTTACATACTTATTCTAGTATCAGTGGTACCTCTGCTTGACCTAGTCCCAAGGAACCGTATTTCTTGCAGATTATTCTGCTT... | pathogenic | 289,424 |
Is the genetic variant on chromosome 18, position 33738902, gene ASXL3 (ASXL transcriptional regulator 3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome'] | AGAAAATGTTGACATGGGTATATTTTATACAGTGCTGTTGTACATATACACTTACCTATATGTATATTTAATAATATTATTAACCAACTAGCAGAAATTTGGCTGCCAGTGGATAGATTTCTGAATGTTACATACTTATTCTAGTATCAGTGGTACCTCTGCTTGACCTAGTCCCAAGGAACCGTATTTCTTGCAGATTATTCTGCTTTAAATTTATCTGTAATGTTGTTTTTCTGATACTCTCAGTATAGTATAGTTATAAATTGTAGCTTAGTTTGAATTCATCTTAGAGAACATTGAAAGGAAAGAGAATATGTATG... | AGAAAATGTTGACATGGGTATATTTTATACAGTGCTGTTGTACATATACACTTACCTATATGTATATTTAATAATATTATTAACCAACTAGCAGAAATTTGGCTGCCAGTGGATAGATTTCTGAATGTTACATACTTATTCTAGTATCAGTGGTACCTCTGCTTGACCTAGTCCCAAGGAACCGTATTTCTTGCAGATTATTCTGCTTTAAATTTATCTGTAATGTTGTTTTTCTGATACTCTCAGTATAGTATAGTTATAAATTGTAGCTTAGTTTGAATTCATCTTAGAGAACATTGAAAGGAAAGAGAATATGTATG... | pathogenic | 289,427 |
Is the genetic change at chromosome 18, position 33739026, within gene ASXL3 (ASXL transcriptional regulator 3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome'] | ATGTTACATACTTATTCTAGTATCAGTGGTACCTCTGCTTGACCTAGTCCCAAGGAACCGTATTTCTTGCAGATTATTCTGCTTTAAATTTATCTGTAATGTTGTTTTTCTGATACTCTCAGTATAGTATAGTTATAAATTGTAGCTTAGTTTGAATTCATCTTAGAGAACATTGAAAGGAAAGAGAATATGTATGAAGGCAGTATTTTCTACCTTTTCAGAGATTTCTGAATTTAAATAAAGAAGGCTATGGCCAAATACCCAAAAACTGTATTCAACATTATTTCCCTTTCACATTGAGGATTTTTAAAAAGCAAAGG... | ATGTTACATACTTATTCTAGTATCAGTGGTACCTCTGCTTGACCTAGTCCCAAGGAACCGTATTTCTTGCAGATTATTCTGCTTTAAATTTATCTGTAATGTTGTTTTTCTGATACTCTCAGTATAGTATAGTTATAAATTGTAGCTTAGTTTGAATTCATCTTAGAGAACATTGAAAGGAAAGAGAATATGTATGAAGGCAGTATTTTCTACCTTTTCAGAGATTTCTGAATTTAAATAAAGAAGGCTATGGCCAAATACCCAAAAACTGTATTCAACATTATTTCCCTTTCACATTGAGGATTTTTAAAAAGCAAAGG... | pathogenic | 289,430 |
Is the variant located on chromosome 18 at position 33739249, gene ASXL3 (ASXL transcriptional regulator 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome'] | ATTTCTGAATTTAAATAAAGAAGGCTATGGCCAAATACCCAAAAACTGTATTCAACATTATTTCCCTTTCACATTGAGGATTTTTAAAAAGCAAAGGTTAAAGTGGTTTTCACTGAGGTATTGTTTGCATCAATGTTACCATGACTATATTTCTTCACTTAAATGTTCTTTTTCCTCTAGAAATGTTCTCTCTCCTGCTTATCTTTCTCATTGCCTTTACGCTAATTTAACTTCATTTAGAGCAGCATATTTCTCTACCATCTGATGCTGACAGTGTAAATTATATGATAGAAAACAGTGATTTACAGTACCCTTGATTG... | ATTTCTGAATTTAAATAAAGAAGGCTATGGCCAAATACCCAAAAACTGTATTCAACATTATTTCCCTTTCACATTGAGGATTTTTAAAAAGCAAAGGTTAAAGTGGTTTTCACTGAGGTATTGTTTGCATCAATGTTACCATGACTATATTTCTTCACTTAAATGTTCTTTTTCCTCTAGAAATGTTCTCTCTCCTGCTTATCTTTCTCATTGCCTTTACGCTAATTTAACTTCATTTAGAGCAGCATATTTCTCTACCATCTGATGCTGACAGTGTAAATTATATGATAGAAAACAGTGATTTACAGTACCCTTGATTG... | pathogenic | 289,436 |
Variant in ASXL3 (ASXL transcriptional regulator 3), chromosome 18, position 33739378—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Inborn_genetic_diseases', 'Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome'] | TCAATGTTACCATGACTATATTTCTTCACTTAAATGTTCTTTTTCCTCTAGAAATGTTCTCTCTCCTGCTTATCTTTCTCATTGCCTTTACGCTAATTTAACTTCATTTAGAGCAGCATATTTCTCTACCATCTGATGCTGACAGTGTAAATTATATGATAGAAAACAGTGATTTACAGTACCCTTGATTGTAACTCTGATTAGATTTGCCTTAAGACCTGAACATCATGCTCAATTATTTCTTGATTTTCTGTACCTATCACGTATGGAATATCTTTACAGTAAGAGATCTGCATAAAAGAATTTAAAAGTCTTGCTTC... | TCAATGTTACCATGACTATATTTCTTCACTTAAATGTTCTTTTTCCTCTAGAAATGTTCTCTCTCCTGCTTATCTTTCTCATTGCCTTTACGCTAATTTAACTTCATTTAGAGCAGCATATTTCTCTACCATCTGATGCTGACAGTGTAAATTATATGATAGAAAACAGTGATTTACAGTACCCTTGATTGTAACTCTGATTAGATTTGCCTTAAGACCTGAACATCATGCTCAATTATTTCTTGATTTTCTGTACCTATCACGTATGGAATATCTTTACAGTAAGAGATCTGCATAAAAGAATTTAAAAGTCTTGCTTC... | pathogenic | 289,438 |
Is the chromosome 18, position 33743999 variant in ASXL3 (ASXL transcriptional regulator 3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome'] | GACCTTGTGCCTCATGAATTTGGTGATGACTCTGCGAGTCTCTTAATTACCAAGAATTGGTAAACAGTATGGGTTGGGACGTTTACAAAATTCAGCAGATTGTGGATTACCAATATCAAAAGAAACTGCCCAATGCATAAATCCTTTAGAGACAGAAAATCAGAGTTTCCCTTGCTTTTATGCAAATGCAATGATAATACAATCCCTTTGGAAAACAGAACACGCTGACAAATGTAGTCTCATTCCATCTTTAAAACAGCCCTTTGAAGGAAATAGATCAGAAATAACTAGTCCCATTTTACAACTGAGTTTACAAACTT... | GACCTTGTGCCTCATGAATTTGGTGATGACTCTGCGAGTCTCTTAATTACCAAGAATTGGTAAACAGTATGGGTTGGGACGTTTACAAAATTCAGCAGATTGTGGATTACCAATATCAAAAGAAACTGCCCAATGCATAAATCCTTTAGAGACAGAAAATCAGAGTTTCCCTTGCTTTTATGCAAATGCAATGATAATACAATCCCTTTGGAAAACAGAACACGCTGACAAATGTAGTCTCATTCCATCTTTAAAACAGCCCTTTGAAGGAAATAGATCAGAAATAACTAGTCCCATTTTACAACTGAGTTTACAAACTT... | pathogenic | 289,479 |
A genetic variant at chromosome 18, position 33744056, affecting gene ASXL3 (ASXL transcriptional regulator 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome'] | TGGTAAACAGTATGGGTTGGGACGTTTACAAAATTCAGCAGATTGTGGATTACCAATATCAAAAGAAACTGCCCAATGCATAAATCCTTTAGAGACAGAAAATCAGAGTTTCCCTTGCTTTTATGCAAATGCAATGATAATACAATCCCTTTGGAAAACAGAACACGCTGACAAATGTAGTCTCATTCCATCTTTAAAACAGCCCTTTGAAGGAAATAGATCAGAAATAACTAGTCCCATTTTACAACTGAGTTTACAAACTTCTCTTGTGTTCTTATATGTATAAAGCAGCATGCAAGGTAGCATAGGAGTGCATAAAA... | TGGTAAACAGTATGGGTTGGGACGTTTACAAAATTCAGCAGATTGTGGATTACCAATATCAAAAGAAACTGCCCAATGCATAAATCCTTTAGAGACAGAAAATCAGAGTTTCCCTTGCTTTTATGCAAATGCAATGATAATACAATCCCTTTGGAAAACAGAACACGCTGACAAATGTAGTCTCATTCCATCTTTAAAACAGCCCTTTGAAGGAAATAGATCAGAAATAACTAGTCCCATTTTACAACTGAGTTTACAAACTTCTCTTGTGTTCTTATATGTATAAAGCAGCATGCAAGGTAGCATAGGAGTGCATAAAA... | pathogenic | 289,480 |
Does the chromosome 18 mutation at position 33744062 within gene ASXL3 (ASXL transcriptional regulator 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['ASXL3-related_disorder', 'Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome'] | ACAGTATGGGTTGGGACGTTTACAAAATTCAGCAGATTGTGGATTACCAATATCAAAAGAAACTGCCCAATGCATAAATCCTTTAGAGACAGAAAATCAGAGTTTCCCTTGCTTTTATGCAAATGCAATGATAATACAATCCCTTTGGAAAACAGAACACGCTGACAAATGTAGTCTCATTCCATCTTTAAAACAGCCCTTTGAAGGAAATAGATCAGAAATAACTAGTCCCATTTTACAACTGAGTTTACAAACTTCTCTTGTGTTCTTATATGTATAAAGCAGCATGCAAGGTAGCATAGGAGTGCATAAAAATCATA... | ACAGTATGGGTTGGGACGTTTACAAAATTCAGCAGATTGTGGATTACCAATATCAAAAGAAACTGCCCAATGCATAAATCCTTTAGAGACAGAAAATCAGAGTTTCCCTTGCTTTTATGCAAATGCAATGATAATACAATCCCTTTGGAAAACAGAACACGCTGACAAATGTAGTCTCATTCCATCTTTAAAACAGCCCTTTGAAGGAAATAGATCAGAAATAACTAGTCCCATTTTACAACTGAGTTTACAAACTTCTCTTGTGTTCTTATATGTATAAAGCAGCATGCAAGGTAGCATAGGAGTGCATAAAAATCATA... | pathogenic | 289,481 |
Is the genetic change at chromosome 18, position 33744255, within gene ASXL3 (ASXL transcriptional regulator 3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autism_spectrum_disorder', 'Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome'] | CAGCCCTTTGAAGGAAATAGATCAGAAATAACTAGTCCCATTTTACAACTGAGTTTACAAACTTCTCTTGTGTTCTTATATGTATAAAGCAGCATGCAAGGTAGCATAGGAGTGCATAAAAATCATAGAGTTCTTGGCTCAGAGAGATTATTGGAGAAACTGAGGTACACAATGATTAGCCTAGGATCACAAAGTTCCTTTGTGTAAAGTCAAAATGAGAATTCTAGTTGTCAATATCTCAGTCAGGGCTTTTTTCTTTGGGTCAAATTAAGACAGACAAACTCAAATAGAGTTGAAGTTCCACTTTTTTATGCCACTAA... | CAGCCCTTTGAAGGAAATAGATCAGAAATAACTAGTCCCATTTTACAACTGAGTTTACAAACTTCTCTTGTGTTCTTATATGTATAAAGCAGCATGCAAGGTAGCATAGGAGTGCATAAAAATCATAGAGTTCTTGGCTCAGAGAGATTATTGGAGAAACTGAGGTACACAATGATTAGCCTAGGATCACAAAGTTCCTTTGTGTAAAGTCAAAATGAGAATTCTAGTTGTCAATATCTCAGTCAGGGCTTTTTTCTTTGGGTCAAATTAAGACAGACAAACTCAAATAGAGTTGAAGTTCCACTTTTTTATGCCACTAA... | pathogenic | 289,487 |
Benign or pathogenic: chromosome 18, position 33744548, gene ASXL3 (ASXL transcriptional regulator 3) variant? Disease(s) if pathogenic? | pathogenic | TGAAGTTCCACTTTTTTATGCCACTAAAAAAGATATTTCAAAATTAAATATCTTGAAGTCTTTCTTTTTAGCCTACTACACTTCTAGAAGCATGAATTTTGTATCCATTTGTATGATGCATTAAGAAGATTCTTCATTTCCATGCCAAATGAAGTTACAATGGATGTTTTTGTAGATTAAAAAACAGATTAAAAACTTAATTTTTTCCATTCATACTACGTTTCTTATTGCTTTATGCCCTAAGGGTGCATCCAGGGATTTAGGTGTAGTTCATGGCATATTAGGAGAGAATGCAGCTAGTCTTTTCCCTTGCATTATCA... | TGAAGTTCCACTTTTTTATGCCACTAAAAAAGATATTTCAAAATTAAATATCTTGAAGTCTTTCTTTTTAGCCTACTACACTTCTAGAAGCATGAATTTTGTATCCATTTGTATGATGCATTAAGAAGATTCTTCATTTCCATGCCAAATGAAGTTACAATGGATGTTTTTGTAGATTAAAAAACAGATTAAAAACTTAATTTTTTCCATTCATACTACGTTTCTTATTGCTTTATGCCCTAAGGGTGCATCCAGGGATTTAGGTGTAGTTCATGGCATATTAGGAGAGAATGCAGCTAGTCTTTTCCCTTGCATTATCA... | pathogenic | 289,490 |
For chromosome 18, position 33744686, gene ASXL3 (ASXL transcriptional regulator 3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome'] | TCCATGCCAAATGAAGTTACAATGGATGTTTTTGTAGATTAAAAAACAGATTAAAAACTTAATTTTTTCCATTCATACTACGTTTCTTATTGCTTTATGCCCTAAGGGTGCATCCAGGGATTTAGGTGTAGTTCATGGCATATTAGGAGAGAATGCAGCTAGTCTTTTCCCTTGCATTATCACATTCTACGTGCCTCCTCTGTGATCATGTATGAAGCACATTATATTTTTTTTTCTGTCCTCCTTTTAGATTCAGCTTTCCAAAATTGGGCCACCTTTTATAATCAAGAGCCAACCAGTCTCCAAACCTGAGTCTCGAG... | TCCATGCCAAATGAAGTTACAATGGATGTTTTTGTAGATTAAAAAACAGATTAAAAACTTAATTTTTTCCATTCATACTACGTTTCTTATTGCTTTATGCCCTAAGGGTGCATCCAGGGATTTAGGTGTAGTTCATGGCATATTAGGAGAGAATGCAGCTAGTCTTTTCCCTTGCATTATCACATTCTACGTGCCTCCTCTGTGATCATGTATGAAGCACATTATATTTTTTTTTCTGTCCTCCTTTTAGATTCAGCTTTCCAAAATTGGGCCACCTTTTATAATCAAGAGCCAACCAGTCTCCAAACCTGAGTCTCGAG... | pathogenic | 289,494 |
Variant at chromosome 18, position 33744736, gene ASXL3 (ASXL transcriptional regulator 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome'] | TTAAAAACTTAATTTTTTCCATTCATACTACGTTTCTTATTGCTTTATGCCCTAAGGGTGCATCCAGGGATTTAGGTGTAGTTCATGGCATATTAGGAGAGAATGCAGCTAGTCTTTTCCCTTGCATTATCACATTCTACGTGCCTCCTCTGTGATCATGTATGAAGCACATTATATTTTTTTTTCTGTCCTCCTTTTAGATTCAGCTTTCCAAAATTGGGCCACCTTTTATAATCAAGAGCCAACCAGTCTCCAAACCTGAGTCTCGAGCATCCACTAGCACATCTGTCAGTGGCGGGAGGAACACAGGAGCCAGGACC... | TTAAAAACTTAATTTTTTCCATTCATACTACGTTTCTTATTGCTTTATGCCCTAAGGGTGCATCCAGGGATTTAGGTGTAGTTCATGGCATATTAGGAGAGAATGCAGCTAGTCTTTTCCCTTGCATTATCACATTCTACGTGCCTCCTCTGTGATCATGTATGAAGCACATTATATTTTTTTTTCTGTCCTCCTTTTAGATTCAGCTTTCCAAAATTGGGCCACCTTTTATAATCAAGAGCCAACCAGTCTCCAAACCTGAGTCTCGAGCATCCACTAGCACATCTGTCAGTGGCGGGAGGAACACAGGAGCCAGGACC... | pathogenic | 289,495 |
Regarding the variant at chromosome 18 and position 34806319, affecting gene DTNA (dystrobrevin alpha): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GAGGAGACTAGACGAGACTGCTGGGTGTGCCATGAGCAAACGTTAGAACTTCGTCCTGAGGGCAAAAGGCGGCCAGAGGGTTTTAAGCAATGAAATAATATGGTCAAATTTGTGATATGAGTGTGCAAGCAGAGAGATCATTTCAGAGGTTATGACCGTGTTAAAGCAAGAGCTGATGGAAGCAGTGACAGTGGGAATGAAAAGAAGGGAATGGATTCAACATACAGGTAACAAGTCTAGCTGAGTCCTTCAAACATTTGTTCGGAGTGGTAGTAATTAAGGAAGAGCAAGAAATCAAAGGCGACCCCAACTCAGGATTC... | GAGGAGACTAGACGAGACTGCTGGGTGTGCCATGAGCAAACGTTAGAACTTCGTCCTGAGGGCAAAAGGCGGCCAGAGGGTTTTAAGCAATGAAATAATATGGTCAAATTTGTGATATGAGTGTGCAAGCAGAGAGATCATTTCAGAGGTTATGACCGTGTTAAAGCAAGAGCTGATGGAAGCAGTGACAGTGGGAATGAAAAGAAGGGAATGGATTCAACATACAGGTAACAAGTCTAGCTGAGTCCTTCAAACATTTGTTCGGAGTGGTAGTAATTAAGGAAGAGCAAGAAATCAAAGGCGACCCCAACTCAGGATTC... | benign | 289,532 |
Chromosome 18, position 36160953, gene ELP2 (elongator acetyltransferase complex subunit 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | GTAAGGCTTTTGTCTTCAAAATTATTAAACCCATAGTGGTACTTAAACCCCAGTCATACACTTGTGTAATGTCTACCTAATGTTTGTTACAGCTGATTTTTTTTTTAAATCACAGTATATCTTTTCTATCACCTATTTCGTGATAAGTACTCTTTGTACACACTCAGACCACTGAAGTAGATGCAGTTTTCACAAAGCATGTTTTTTCCCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGCTTCAAGCAATTCTCCT... | GTAAGGCTTTTGTCTTCAAAATTATTAAACCCATAGTGGTACTTAAACCCCAGTCATACACTTGTGTAATGTCTACCTAATGTTTGTTACAGCTGATTTTTTTTTTAAATCACAGTATATCTTTTCTATCACCTATTTCGTGATAAGTACTCTTTGTACACACTCAGACCACTGAAGTAGATGCAGTTTTCACAAAGCATGTTTTTTCCCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGCTTCAAGCAATTCTCCT... | pathogenic | 289,632 |
Gene MOCOS (molybdenum cofactor sulfurase) variant at chromosome 18, position 36187693—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TGCCTCTCTCTGCCTCAGCTTCCCCATCTGTAAGAGCCACCTCCTAGATCTGCATATTTAATCATTGAACGACCAGGACAGGTAAGAGTGTACACAGTGCAGTGCCTGGCACACAGTGAGGCCCTGTAACTAGCTCTTGTTATTAGTGCTGCCCAAAGCCACATTCACAGAAGACAGTCCAGTATCCAAAGTGCCTGCTTGAAGCATGGCCAGAAGGCAAGCAGATGGTGGGGTGGGCAGTGATGTCAATGAGCAAATGCCTGCATCCATCCATCAGTACATTAACTCCTCCTCGAACAACTATGGGTGTTTGTCGAGTA... | TGCCTCTCTCTGCCTCAGCTTCCCCATCTGTAAGAGCCACCTCCTAGATCTGCATATTTAATCATTGAACGACCAGGACAGGTAAGAGTGTACACAGTGCAGTGCCTGGCACACAGTGAGGCCCTGTAACTAGCTCTTGTTATTAGTGCTGCCCAAAGCCACATTCACAGAAGACAGTCCAGTATCCAAAGTGCCTGCTTGAAGCATGGCCAGAAGGCAAGCAGATGGTGGGGTGGGCAGTGATGTCAATGAGCAAATGCCTGCATCCATCCATCAGTACATTAACTCCTCCTCGAACAACTATGGGTGTTTGTCGAGTA... | benign | 289,648 |
The mutation impacting MOCOS (molybdenum cofactor sulfurase) on chromosome 18 at position 36205140: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Xanthinuria_type_II'] | CTCCTTACCCCGTGGTTATAGGTTTGAAGATGGCACCATCTCATTCCTTGATGTTATCGCGCTAAAACATGGATTTGACACCCTAGAGCGCCTCACAGGTCAGTGGACATTTCTATCCCTGTGGAATTTGCTCCTGTTGTGTCCTTGAGGGAGCTCTGGCACAGGTGTGATTCAGGTAAAGGAGACAGAGTCTGTGGAAGTGACTGGCACTCCATGTAGTTAAATTTGATTCCTAGTAACTTCAAAACCACTTCAGAGAGCAAGAGAATGAGGTGGGGTTTTTGGATTGTTTTTTGTTTTTTCAGCTAAAATAACATTTT... | CTCCTTACCCCGTGGTTATAGGTTTGAAGATGGCACCATCTCATTCCTTGATGTTATCGCGCTAAAACATGGATTTGACACCCTAGAGCGCCTCACAGGTCAGTGGACATTTCTATCCCTGTGGAATTTGCTCCTGTTGTGTCCTTGAGGGAGCTCTGGCACAGGTGTGATTCAGGTAAAGGAGACAGAGTCTGTGGAAGTGACTGGCACTCCATGTAGTTAAATTTGATTCCTAGTAACTTCAAAACCACTTCAGAGAGCAAGAGAATGAGGTGGGGTTTTTGGATTGTTTTTTGTTTTTTCAGCTAAAATAACATTTT... | pathogenic | 289,677 |
Is chromosome 18, position 36652860, gene FHOD3 (formin homology 2 domain containing 3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiomyopathy,_familial_hypertrophic,_28', 'Inborn_genetic_diseases'] | TGTTAATGGTGTGCTGTCTCTACCTAGGATTTTTATTATACAGGTAGATGATTGTTTATCTTATGCCTGGAAGAGTCTCTGACTCCACAAAGTGATGCCAGAGGGCATCCTTTACCAGAGACCATTAGGCTTTTCAGTTTTAGGAAATAAACATGTGTATGTTAAATAACAGAGCTTGATCTTGGTAGTACCTAGGTATTCATTAACCTTCATCTGGATGTTATTTGTTCTCTGGCGTAAACTTCTGAGACCGTAAAGGATTTCCCCTTCCTTCTGTTGGGTTGGTGTCTCTGCTGCCCTGCTTCCTGCTGACTTCTGCT... | TGTTAATGGTGTGCTGTCTCTACCTAGGATTTTTATTATACAGGTAGATGATTGTTTATCTTATGCCTGGAAGAGTCTCTGACTCCACAAAGTGATGCCAGAGGGCATCCTTTACCAGAGACCATTAGGCTTTTCAGTTTTAGGAAATAAACATGTGTATGTTAAATAACAGAGCTTGATCTTGGTAGTACCTAGGTATTCATTAACCTTCATCTGGATGTTATTTGTTCTCTGGCGTAAACTTCTGAGACCGTAAAGGATTTCCCCTTCCTTCTGTTGGGTTGGTGTCTCTGCTGCCCTGCTTCCTGCTGACTTCTGCT... | pathogenic | 289,743 |
For chromosome 18, position 36717856, gene FHOD3 (formin homology 2 domain containing 3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GGGAAGACTTCACTGAGAAGATATGGTTTGAGTAAAGACAAGAGGTCAAGGATAAAATTGTGTGATTAACTAGGTGTAGTTTATCCCAGGAGGGGCTGACACCCTGAGGCCAGATCATACTTGGTGAGTTCTAGGAATGGGAAGAAGTTGCTGTAGCTAACGAGGTTTATGGGCATGTGTGTCTGGGGGTCAGGGAGTGTTGGTGGTGGTGTGCGATGAATGAAAAGTAAGGAAGGATCATGGAAGGCCTTGTGAACGTCATGTCATTGGCCTTTTCTCACAGTGAACGTTGGTGCTGTTAAAAGACTTTGAGCAGAAAG... | GGGAAGACTTCACTGAGAAGATATGGTTTGAGTAAAGACAAGAGGTCAAGGATAAAATTGTGTGATTAACTAGGTGTAGTTTATCCCAGGAGGGGCTGACACCCTGAGGCCAGATCATACTTGGTGAGTTCTAGGAATGGGAAGAAGTTGCTGTAGCTAACGAGGTTTATGGGCATGTGTGTCTGGGGGTCAGGGAGTGTTGGTGGTGGTGTGCGATGAATGAAAAGTAAGGAAGGATCATGGAAGGCCTTGTGAACGTCATGTCATTGGCCTTTTCTCACAGTGAACGTTGGTGCTGTTAAAAGACTTTGAGCAGAAAG... | benign | 289,760 |
Benign or pathogenic: chromosome 18, position 44701385, gene SETBP1 (SET binding protein 1) variant? Disease(s) if pathogenic? | pathogenic; ['Intellectual_disability,_autosomal_dominant_29'] | GGAAATTTCCTAAGGTACATTGATGTCTCCAACAGCTGGGGTGGTGCCTGACACTAGTAAGAGAGGCCTCCGTAAAGTCAACTTGAGTATAACTTTTTAAAAATAATGTGTATTATTGGGCAGATAAATCTAGATGAGACAAAAAATCTTATCAGTAAAAGAAACATCAAGTGTCATCTGGTCTAACTTCTCCCCACCTCCCAAAGTGGAGACTTTGTCCATCTTGTAGCATGGGTCACAGGTGGCTGTTTTCAGTTTTGGCTCAACAGTGTCAGTGAAGATGCTCATGCTCTCACTAGGGCAGCTTCTTCTTTTTCAGA... | GGAAATTTCCTAAGGTACATTGATGTCTCCAACAGCTGGGGTGGTGCCTGACACTAGTAAGAGAGGCCTCCGTAAAGTCAACTTGAGTATAACTTTTTAAAAATAATGTGTATTATTGGGCAGATAAATCTAGATGAGACAAAAAATCTTATCAGTAAAAGAAACATCAAGTGTCATCTGGTCTAACTTCTCCCCACCTCCCAAAGTGGAGACTTTGTCCATCTTGTAGCATGGGTCACAGGTGGCTGTTTTCAGTTTTGGCTCAACAGTGTCAGTGAAGATGCTCATGCTCTCACTAGGGCAGCTTCTTCTTTTTCAGA... | pathogenic | 289,781 |
Classify the chromosome 18 variant at position 44876705 affecting gene SETBP1 (SET binding protein 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GTTCATTCCTGGAGGAAGAACGATTAAGTGTTCAGAGGAGGAAGGCTCAGTCCTGTTCAAATGAACTGTTACTCCACTTTCCTTAGTCCCCACAATTAGTCCTACTCAGAGATCATCAGAGGACACAACCATCTGCAGAACAATCCTGGGTTCCATGAGTCCTCAACCAGAAGTTTTAATGCCAAACCCCAAAGTATTCTGTGAGGAGAAGCTGCTTTTTAGGAAGGTATGACTGTGGAGTTTCTGCATAGAGAGAAATCCTGGCTGTGCTTATCTCCCAACAGAAAAGGAAGGCTGAAGCAGGGCAGGGGCTGTGACAG... | GTTCATTCCTGGAGGAAGAACGATTAAGTGTTCAGAGGAGGAAGGCTCAGTCCTGTTCAAATGAACTGTTACTCCACTTTCCTTAGTCCCCACAATTAGTCCTACTCAGAGATCATCAGAGGACACAACCATCTGCAGAACAATCCTGGGTTCCATGAGTCCTCAACCAGAAGTTTTAATGCCAAACCCCAAAGTATTCTGTGAGGAGAAGCTGCTTTTTAGGAAGGTATGACTGTGGAGTTTCTGCATAGAGAGAAATCCTGGCTGTGCTTATCTCCCAACAGAAAAGGAAGGCTGAAGCAGGGCAGGGGCTGTGACAG... | benign | 289,794 |
Is the genetic mutation found on chromosome 18 at position 44950744, within the gene SETBP1 (SET binding protein 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_dominant_29'] | ACCTTAAGGAATACTACTTTGAACTAGTATCATGGCTTAAAATTCATCTGGAACAGTGAAAGCATATTTTTATTAAAAGTAGCTTTAATATCTCCAAACGATGTGTTCACTATCCATTCTCATTGTGGTTTTGTAGACACTGATTATGTTGTGCCTCCAGCAACATGTTCAGCTTTTTATTTTAGCTGGAGAGAGTCAGTCCTGAGAAAGATTCTGGAGACATTCCTTTAGAATCAATGTAGGGGAAACACAGTTGACAAAGTTTGGAGGAGTGATCTTGAATGACAACTATTTTTTTTTCCTGACACATTTGTCTAGTA... | ACCTTAAGGAATACTACTTTGAACTAGTATCATGGCTTAAAATTCATCTGGAACAGTGAAAGCATATTTTTATTAAAAGTAGCTTTAATATCTCCAAACGATGTGTTCACTATCCATTCTCATTGTGGTTTTGTAGACACTGATTATGTTGTGCCTCCAGCAACATGTTCAGCTTTTTATTTTAGCTGGAGAGAGTCAGTCCTGAGAAAGATTCTGGAGACATTCCTTTAGAATCAATGTAGGGGAAACACAGTTGACAAAGTTTGGAGGAGTGATCTTGAATGACAACTATTTTTTTTTCCTGACACATTTGTCTAGTA... | pathogenic | 289,823 |
A mutation at chromosome position 44951356 on chromosome 18 in gene SETBP1 (SET binding protein 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic | GAGATGTTGAGCTCTAAGACAAAGTACAAGCTGAAATGAACTGGAACAGGAGGAAGCGAGGAAAGACATACATTCGAAGAGAAGCAGGGACAGAAATAAGAGACTGTTCGAGTTAGGTGAAAGAACACTGGGAGTCGGGAATTTCAGATTCTCTCCTGGGATTTGCCATCTTTGGCAGGACTCTCCATTGTTCAGGTCTCAGCTTCTTCACTTGTAAAATAGCATGTAAAAATGTAAAAAGGCACTGGGCTAAGTGACCTTTGTGTCCCCTCCCTCCTGTCTCTAAAGATTGCATTAAATCAAGGTAGGTCAAGATTCCT... | GAGATGTTGAGCTCTAAGACAAAGTACAAGCTGAAATGAACTGGAACAGGAGGAAGCGAGGAAAGACATACATTCGAAGAGAAGCAGGGACAGAAATAAGAGACTGTTCGAGTTAGGTGAAAGAACACTGGGAGTCGGGAATTTCAGATTCTCTCCTGGGATTTGCCATCTTTGGCAGGACTCTCCATTGTTCAGGTCTCAGCTTCTTCACTTGTAAAATAGCATGTAAAAATGTAAAAAGGCACTGGGCTAAGTGACCTTTGTGTCCCCTCCCTCCTGTCTCTAAAGATTGCATTAAATCAAGGTAGGTCAAGATTCCT... | pathogenic | 289,845 |
Is the variant located on chromosome 18 at position 45063487, gene SETBP1 (SET binding protein 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GTAGTCAGAAGCTCACTCTGGCTTTGTTCTATTTTGATCTTTATAACTTATTTTAAAGATCATTCAGTAGTTATTCATTGCTCGGTCAGTCTCACTGACCTTTGGCCAAAAGCTGTAACATTTTGACCTGGCCTGTGGGACTCAGCTCTTTCCACTCCATGAAGCTGGGGGTGTAAATAACTTCAAATAAAACCCTCCTGGCAATCTGTGCTGGGCACAGCATGAGAGAGAAATGGGACAAAGCAGAGGAAAGAATCAAGTGGGAGTACCCACAATAAGTGAGAATGGTATCCATGTTTTAAGCGTCTTTTTTCCTCCTC... | GTAGTCAGAAGCTCACTCTGGCTTTGTTCTATTTTGATCTTTATAACTTATTTTAAAGATCATTCAGTAGTTATTCATTGCTCGGTCAGTCTCACTGACCTTTGGCCAAAAGCTGTAACATTTTGACCTGGCCTGTGGGACTCAGCTCTTTCCACTCCATGAAGCTGGGGGTGTAAATAACTTCAAATAAAACCCTCCTGGCAATCTGTGCTGGGCACAGCATGAGAGAGAAATGGGACAAAGCAGAGGAAAGAATCAAGTGGGAGTACCCACAATAAGTGAGAATGGTATCCATGTTTTAAGCGTCTTTTTTCCTCCTC... | benign | 289,916 |
Gene SETBP1 (SET binding protein 1) variant at chromosome position 45063496 on chromosome 18: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AGCTCACTCTGGCTTTGTTCTATTTTGATCTTTATAACTTATTTTAAAGATCATTCAGTAGTTATTCATTGCTCGGTCAGTCTCACTGACCTTTGGCCAAAAGCTGTAACATTTTGACCTGGCCTGTGGGACTCAGCTCTTTCCACTCCATGAAGCTGGGGGTGTAAATAACTTCAAATAAAACCCTCCTGGCAATCTGTGCTGGGCACAGCATGAGAGAGAAATGGGACAAAGCAGAGGAAAGAATCAAGTGGGAGTACCCACAATAAGTGAGAATGGTATCCATGTTTTAAGCGTCTTTTTTCCTCCTCTCTCTTAAG... | AGCTCACTCTGGCTTTGTTCTATTTTGATCTTTATAACTTATTTTAAAGATCATTCAGTAGTTATTCATTGCTCGGTCAGTCTCACTGACCTTTGGCCAAAAGCTGTAACATTTTGACCTGGCCTGTGGGACTCAGCTCTTTCCACTCCATGAAGCTGGGGGTGTAAATAACTTCAAATAAAACCCTCCTGGCAATCTGTGCTGGGCACAGCATGAGAGAGAAATGGGACAAAGCAGAGGAAAGAATCAAGTGGGAGTACCCACAATAAGTGAGAATGGTATCCATGTTTTAAGCGTCTTTTTTCCTCCTCTCTCTTAAG... | benign | 289,918 |
Clinical classification of chromosome 18, position 45865656, gene EPG5 (ectopic P-granules 5 autophagy tethering factor): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Vici_syndrome'] | CAATGAAAGTATGGTTCTTTACCTCGTCTTCATCATTAAAGGGTGGCTTTTCTTAGTTTACAATTCTAGGTTATGAGTCATTTTCTCATAGCACATTGAAGTTGTTATCCCACTGTCTTACAGATTCTTTTATTGATACTGAGAAGTCAGCTGTCAGTCTAAATGTTGCTCCTTGGTAGGTAATCTGCCTTTCCTTCCTGGATGTAAAGGGTTTTGTTTTGTTTTGTTTTTTAATTTTGCCACTGGTACTTCTGCAGGTTCACTATAGTGTATACAGGTTTGAATTTCTTTCCATATATCCTACTTGGGATTTGCTGGGT... | CAATGAAAGTATGGTTCTTTACCTCGTCTTCATCATTAAAGGGTGGCTTTTCTTAGTTTACAATTCTAGGTTATGAGTCATTTTCTCATAGCACATTGAAGTTGTTATCCCACTGTCTTACAGATTCTTTTATTGATACTGAGAAGTCAGCTGTCAGTCTAAATGTTGCTCCTTGGTAGGTAATCTGCCTTTCCTTCCTGGATGTAAAGGGTTTTGTTTTGTTTTGTTTTTTAATTTTGCCACTGGTACTTCTGCAGGTTCACTATAGTGTATACAGGTTTGAATTTCTTTCCATATATCCTACTTGGGATTTGCTGGGT... | pathogenic | 289,944 |
Considering the genetic mutation at chromosome 18, position 45865765, impacting EPG5 (ectopic P-granules 5 autophagy tethering factor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCACTGTCTTACAGATTCTTTTATTGATACTGAGAAGTCAGCTGTCAGTCTAAATGTTGCTCCTTGGTAGGTAATCTGCCTTTCCTTCCTGGATGTAAAGGGTTTTGTTTTGTTTTGTTTTTTAATTTTGCCACTGGTACTTCTGCAGGTTCACTATAGTGTATACAGGTTTGAATTTCTTTCCATATATCCTACTTGGGATTTGCTGGGTTTACTGAATTTGAGGATTGCTGTCTTCATCAGCCCTGAAAATTTTCAGCCTTGCTATCTCTTCAGATATTGCTTCTCCCCAGTTAAGTATCTCCTCTCCTTCTGGAATT... | CCACTGTCTTACAGATTCTTTTATTGATACTGAGAAGTCAGCTGTCAGTCTAAATGTTGCTCCTTGGTAGGTAATCTGCCTTTCCTTCCTGGATGTAAAGGGTTTTGTTTTGTTTTGTTTTTTAATTTTGCCACTGGTACTTCTGCAGGTTCACTATAGTGTATACAGGTTTGAATTTCTTTCCATATATCCTACTTGGGATTTGCTGGGTTTACTGAATTTGAGGATTGCTGTCTTCATCAGCCCTGAAAATTTTCAGCCTTGCTATCTCTTCAGATATTGCTTCTCCCCAGTTAAGTATCTCCTCTCCTTCTGGAATT... | benign | 289,945 |
Variant in gene EPG5 (ectopic P-granules 5 autophagy tethering factor), located at chromosome 18 position 45865765: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CCACTGTCTTACAGATTCTTTTATTGATACTGAGAAGTCAGCTGTCAGTCTAAATGTTGCTCCTTGGTAGGTAATCTGCCTTTCCTTCCTGGATGTAAAGGGTTTTGTTTTGTTTTGTTTTTTAATTTTGCCACTGGTACTTCTGCAGGTTCACTATAGTGTATACAGGTTTGAATTTCTTTCCATATATCCTACTTGGGATTTGCTGGGTTTACTGAATTTGAGGATTGCTGTCTTCATCAGCCCTGAAAATTTTCAGCCTTGCTATCTCTTCAGATATTGCTTCTCCCCAGTTAAGTATCTCCTCTCCTTCTGGAATT... | CCACTGTCTTACAGATTCTTTTATTGATACTGAGAAGTCAGCTGTCAGTCTAAATGTTGCTCCTTGGTAGGTAATCTGCCTTTCCTTCCTGGATGTAAAGGGTTTTGTTTTGTTTTGTTTTTTAATTTTGCCACTGGTACTTCTGCAGGTTCACTATAGTGTATACAGGTTTGAATTTCTTTCCATATATCCTACTTGGGATTTGCTGGGTTTACTGAATTTGAGGATTGCTGTCTTCATCAGCCCTGAAAATTTTCAGCCTTGCTATCTCTTCAGATATTGCTTCTCCCCAGTTAAGTATCTCCTCTCCTTCTGGAATT... | benign | 289,946 |
A genetic variant on chromosome 18, position 45865765, affects the gene EPG5 (ectopic P-granules 5 autophagy tethering factor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CCACTGTCTTACAGATTCTTTTATTGATACTGAGAAGTCAGCTGTCAGTCTAAATGTTGCTCCTTGGTAGGTAATCTGCCTTTCCTTCCTGGATGTAAAGGGTTTTGTTTTGTTTTGTTTTTTAATTTTGCCACTGGTACTTCTGCAGGTTCACTATAGTGTATACAGGTTTGAATTTCTTTCCATATATCCTACTTGGGATTTGCTGGGTTTACTGAATTTGAGGATTGCTGTCTTCATCAGCCCTGAAAATTTTCAGCCTTGCTATCTCTTCAGATATTGCTTCTCCCCAGTTAAGTATCTCCTCTCCTTCTGGAATT... | CCACTGTCTTACAGATTCTTTTATTGATACTGAGAAGTCAGCTGTCAGTCTAAATGTTGCTCCTTGGTAGGTAATCTGCCTTTCCTTCCTGGATGTAAAGGGTTTTGTTTTGTTTTGTTTTTTAATTTTGCCACTGGTACTTCTGCAGGTTCACTATAGTGTATACAGGTTTGAATTTCTTTCCATATATCCTACTTGGGATTTGCTGGGTTTACTGAATTTGAGGATTGCTGTCTTCATCAGCCCTGAAAATTTTCAGCCTTGCTATCTCTTCAGATATTGCTTCTCCCCAGTTAAGTATCTCCTCTCCTTCTGGAATT... | benign | 289,947 |
Variant chromosome 18, position 45865765, gene EPG5 (ectopic P-granules 5 autophagy tethering factor): benign or pathogenic? Disease(s)? | benign | CCACTGTCTTACAGATTCTTTTATTGATACTGAGAAGTCAGCTGTCAGTCTAAATGTTGCTCCTTGGTAGGTAATCTGCCTTTCCTTCCTGGATGTAAAGGGTTTTGTTTTGTTTTGTTTTTTAATTTTGCCACTGGTACTTCTGCAGGTTCACTATAGTGTATACAGGTTTGAATTTCTTTCCATATATCCTACTTGGGATTTGCTGGGTTTACTGAATTTGAGGATTGCTGTCTTCATCAGCCCTGAAAATTTTCAGCCTTGCTATCTCTTCAGATATTGCTTCTCCCCAGTTAAGTATCTCCTCTCCTTCTGGAATT... | CCACTGTCTTACAGATTCTTTTATTGATACTGAGAAGTCAGCTGTCAGTCTAAATGTTGCTCCTTGGTAGGTAATCTGCCTTTCCTTCCTGGATGTAAAGGGTTTTGTTTTGTTTTGTTTTTTAATTTTGCCACTGGTACTTCTGCAGGTTCACTATAGTGTATACAGGTTTGAATTTCTTTCCATATATCCTACTTGGGATTTGCTGGGTTTACTGAATTTGAGGATTGCTGTCTTCATCAGCCCTGAAAATTTTCAGCCTTGCTATCTCTTCAGATATTGCTTCTCCCCAGTTAAGTATCTCCTCTCCTTCTGGAATT... | benign | 289,948 |
The genetic variant at chromosome 18, position 45865765, affecting gene EPG5 (ectopic P-granules 5 autophagy tethering factor): benign or pathogenic? Disease name(s) if pathogenic? | benign | CCACTGTCTTACAGATTCTTTTATTGATACTGAGAAGTCAGCTGTCAGTCTAAATGTTGCTCCTTGGTAGGTAATCTGCCTTTCCTTCCTGGATGTAAAGGGTTTTGTTTTGTTTTGTTTTTTAATTTTGCCACTGGTACTTCTGCAGGTTCACTATAGTGTATACAGGTTTGAATTTCTTTCCATATATCCTACTTGGGATTTGCTGGGTTTACTGAATTTGAGGATTGCTGTCTTCATCAGCCCTGAAAATTTTCAGCCTTGCTATCTCTTCAGATATTGCTTCTCCCCAGTTAAGTATCTCCTCTCCTTCTGGAATT... | CCACTGTCTTACAGATTCTTTTATTGATACTGAGAAGTCAGCTGTCAGTCTAAATGTTGCTCCTTGGTAGGTAATCTGCCTTTCCTTCCTGGATGTAAAGGGTTTTGTTTTGTTTTGTTTTTTAATTTTGCCACTGGTACTTCTGCAGGTTCACTATAGTGTATACAGGTTTGAATTTCTTTCCATATATCCTACTTGGGATTTGCTGGGTTTACTGAATTTGAGGATTGCTGTCTTCATCAGCCCTGAAAATTTTCAGCCTTGCTATCTCTTCAGATATTGCTTCTCCCCAGTTAAGTATCTCCTCTCCTTCTGGAATT... | benign | 289,949 |
Is the variant located on chromosome 18 at position 45876263, gene EPG5 (ectopic P-granules 5 autophagy tethering factor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Vici_syndrome'] | TGGTGTGGAATGTCCAGAGTGGGGAAGGCTTGTGCATGTGTGGGGGCAGAAGGTATAAAGGAATTCTTGTACTTTCCACTTAATTTTGCTGTAAACCTAAAACTGCTCTAAAAAATAAAGTCCGTTAAACAAAAAATAAAATCTATTACAAAAAAAAAACAAAACTGGATGACATATGCTTAACTGTATGTATTAGCTCATTTTCACACTGCTGATAAAGACATATCCAAGACTGGGTAATTTACAAAGAAAAAGAGGTTTAACAGACTCACAGTTCCATGTGGCTGGGGAGGCCTCACAATCATGGTGGAAGATGAAAG... | TGGTGTGGAATGTCCAGAGTGGGGAAGGCTTGTGCATGTGTGGGGGCAGAAGGTATAAAGGAATTCTTGTACTTTCCACTTAATTTTGCTGTAAACCTAAAACTGCTCTAAAAAATAAAGTCCGTTAAACAAAAAATAAAATCTATTACAAAAAAAAAACAAAACTGGATGACATATGCTTAACTGTATGTATTAGCTCATTTTCACACTGCTGATAAAGACATATCCAAGACTGGGTAATTTACAAAGAAAAAGAGGTTTAACAGACTCACAGTTCCATGTGGCTGGGGAGGCCTCACAATCATGGTGGAAGATGAAAG... | pathogenic | 289,962 |
Considering the variant on chromosome 18, location 45876346, involving gene EPG5 (ectopic P-granules 5 autophagy tethering factor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Vici_syndrome'] | TTTTGCTGTAAACCTAAAACTGCTCTAAAAAATAAAGTCCGTTAAACAAAAAATAAAATCTATTACAAAAAAAAAACAAAACTGGATGACATATGCTTAACTGTATGTATTAGCTCATTTTCACACTGCTGATAAAGACATATCCAAGACTGGGTAATTTACAAAGAAAAAGAGGTTTAACAGACTCACAGTTCCATGTGGCTGGGGAGGCCTCACAATCATGGTGGAAGATGAAAGGCATGTCTTACATGGCAGCAGGCAAGAGAGAGAATGAGAGCCAAGCAATACGGGAAACCCCTTATCAAACCACCAGATCTCAT... | TTTTGCTGTAAACCTAAAACTGCTCTAAAAAATAAAGTCCGTTAAACAAAAAATAAAATCTATTACAAAAAAAAAACAAAACTGGATGACATATGCTTAACTGTATGTATTAGCTCATTTTCACACTGCTGATAAAGACATATCCAAGACTGGGTAATTTACAAAGAAAAAGAGGTTTAACAGACTCACAGTTCCATGTGGCTGGGGAGGCCTCACAATCATGGTGGAAGATGAAAGGCATGTCTTACATGGCAGCAGGCAAGAGAGAGAATGAGAGCCAAGCAATACGGGAAACCCCTTATCAAACCACCAGATCTCAT... | pathogenic | 289,964 |
Clinical significance of chromosome 18, position 45879177, gene EPG5 (ectopic P-granules 5 autophagy tethering factor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Vici_syndrome'] | GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAAGTGGGCAGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGCAAAACACTGTCTCTACTAAAAATACAAAAAAAATAAAAATTAAAATTGAAAAATAGCTGGACGTGGTAGCATGCATTTGTAATTCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCTGTCTTAAAAAAAATTTTTTTTTATTTTCTGAATCT... | GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAAGTGGGCAGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGCAAAACACTGTCTCTACTAAAAATACAAAAAAAATAAAAATTAAAATTGAAAAATAGCTGGACGTGGTAGCATGCATTTGTAATTCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCTGTCTTAAAAAAAATTTTTTTTTATTTTCTGAATCT... | pathogenic | 289,969 |
Does the variant on chromosome 18 at location 45907920 affecting gene EPG5 (ectopic P-granules 5 autophagy tethering factor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TGAGGGGTGTCAAGCATAAAAAGATGAGGATGGAACTGAACTCAAAGGATGTCAGGACACCATGGTCTCATGTGTATTTTTCTTGTTTCTCTGGCCCTATACTCTCAGTCTTATTTCTCTGTGCGTTAAATGCTGTTATCTCTCAATGTTCCATCTTCAGTCCTCTTCTTAATCTACATATTCTCTTACCACTAAATCCACATATCCGACTTTGCCTCATTCCTGAATTCTAGATATATACCTCCCCTTCTGACCAACTCCTTGATAGAGAGCTCTCGTTGAAGCCCCTCAGGCACCCCCTCTTCCAGGGTTTATCTCTG... | TGAGGGGTGTCAAGCATAAAAAGATGAGGATGGAACTGAACTCAAAGGATGTCAGGACACCATGGTCTCATGTGTATTTTTCTTGTTTCTCTGGCCCTATACTCTCAGTCTTATTTCTCTGTGCGTTAAATGCTGTTATCTCTCAATGTTCCATCTTCAGTCCTCTTCTTAATCTACATATTCTCTTACCACTAAATCCACATATCCGACTTTGCCTCATTCCTGAATTCTAGATATATACCTCCCCTTCTGACCAACTCCTTGATAGAGAGCTCTCGTTGAAGCCCCTCAGGCACCCCCTCTTCCAGGGTTTATCTCTG... | benign | 289,996 |
The genetic variant at chromosome 18, position 45915505, affecting gene EPG5 (ectopic P-granules 5 autophagy tethering factor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Vici_syndrome'] | GATGCAATGACAACACCCGTCACATGTGCAATGATCCAGCCTTCAAATACTAGGCTGAGACTCTTGTTAAACAAACCTTGAGAAGCAAGTACTCTTCAATTACACAGTTTTAAGTATTGGTTTGGTTGTTGAGCTTTCCAAACATTCACAACAAAATAAAACACAAAAGCTCAAAAGCTACGGGTGAATCCATCAGCATCAAAGTGTAAGCCACCTTCTACCACTCAAATGCAGAACTGCTATTTGTACCTTCAGAGCTTGGTCAGGGGTGAAAGCAGAGTTTATCACCAATTCCCCTTCAATAACTCTCCGGAGCTGGG... | GATGCAATGACAACACCCGTCACATGTGCAATGATCCAGCCTTCAAATACTAGGCTGAGACTCTTGTTAAACAAACCTTGAGAAGCAAGTACTCTTCAATTACACAGTTTTAAGTATTGGTTTGGTTGTTGAGCTTTCCAAACATTCACAACAAAATAAAACACAAAAGCTCAAAAGCTACGGGTGAATCCATCAGCATCAAAGTGTAAGCCACCTTCTACCACTCAAATGCAGAACTGCTATTTGTACCTTCAGAGCTTGGTCAGGGGTGAAAGCAGAGTTTATCACCAATTCCCCTTCAATAACTCTCCGGAGCTGGG... | pathogenic | 290,003 |
Variant at chromosome position 45917717, chromosome 18, gene EPG5 (ectopic P-granules 5 autophagy tethering factor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Vici_syndrome'] | TTATCAATGACCTTTACAAGAGTATCAGCAACTGTCTTACTACAATACAAGATTCTGATAAGACAGAGATTTCAAGGATGAGTCCACCAGCAGCAATAGTCCAAGGCAGAGCATTACAGCCAAATGTAACAAGCGGGACTCTTCCTGGGCTGTCCTTTCCAACTTCCCTAGGGTCTACGCTAGTGGACTACGATTATCGGGATAAGGTACCATTAAGGCAAAGCTTAAAGAAGGTAATGGCCACAGAGTAGAACTGAAAACTGTACTTGGGGGAATCTTTTTAGAAAGCTACTTTATCTAGCCAATCACTGAAAGATAAA... | TTATCAATGACCTTTACAAGAGTATCAGCAACTGTCTTACTACAATACAAGATTCTGATAAGACAGAGATTTCAAGGATGAGTCCACCAGCAGCAATAGTCCAAGGCAGAGCATTACAGCCAAATGTAACAAGCGGGACTCTTCCTGGGCTGTCCTTTCCAACTTCCCTAGGGTCTACGCTAGTGGACTACGATTATCGGGATAAGGTACCATTAAGGCAAAGCTTAAAGAAGGTAATGGCCACAGAGTAGAACTGAAAACTGTACTTGGGGGAATCTTTTTAGAAAGCTACTTTATCTAGCCAATCACTGAAAGATAAA... | pathogenic | 290,013 |
Classify the chromosome 18 variant at position 45928972 affecting gene EPG5 (ectopic P-granules 5 autophagy tethering factor) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Vici_syndrome'] | CTAATCACTCAAGAAGGAGCAACAGAAAACTTCCTACTGTATTGAACTGTATATGAAAAGCTTTTTATCTCAATATAATCATCTTGCAGTAGCATACAATGTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCTATCTGTAGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTAATTTGTTTTTTTTTCCATTTTTAGTAGAGACGGGATTTCACCGTG... | CTAATCACTCAAGAAGGAGCAACAGAAAACTTCCTACTGTATTGAACTGTATATGAAAAGCTTTTTATCTCAATATAATCATCTTGCAGTAGCATACAATGTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCTATCTGTAGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTAATTTGTTTTTTTTTCCATTTTTAGTAGAGACGGGATTTCACCGTG... | pathogenic | 290,028 |
Clinical impact (benign or pathogenic) of the variant at chromosome 18, location 45949542, gene EPG5 (ectopic P-granules 5 autophagy tethering factor): what disease(s) if pathogenic? | pathogenic; ['Vici_syndrome'] | CATTATCTACCACGTGCAGGAGCAGGCCCTTGTATCCAAGGCAGTAAGGGAGAGGAACCATCAAATCTAAACTCCTCATTTAATTTCAAGGACTTCTATAATCCAACCCACCCGAGTTCTTCACCTCTATTACCAGCTCCCGCACACACCTTTGCTTCAGCCACACTGATCTACCTGTGCTCCGTACAGCTATCCTAACCTGTGTTGGGGCCTTTGCTCACACTGTTCTCCCACCTACATGTTCTCCATTGTCCCGTTCTCCTACTGAAATCTAATCCATTCTTTTTTTTTTTCTTTCAGTTGGAATTTCGCTCTATCAC... | CATTATCTACCACGTGCAGGAGCAGGCCCTTGTATCCAAGGCAGTAAGGGAGAGGAACCATCAAATCTAAACTCCTCATTTAATTTCAAGGACTTCTATAATCCAACCCACCCGAGTTCTTCACCTCTATTACCAGCTCCCGCACACACCTTTGCTTCAGCCACACTGATCTACCTGTGCTCCGTACAGCTATCCTAACCTGTGTTGGGGCCTTTGCTCACACTGTTCTCCCACCTACATGTTCTCCATTGTCCCGTTCTCCTACTGAAATCTAATCCATTCTTTTTTTTTTTCTTTCAGTTGGAATTTCGCTCTATCAC... | pathogenic | 290,043 |
Evaluate this variant at chromosome 18, position 45955299, gene EPG5 (ectopic P-granules 5 autophagy tethering factor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Vici_syndrome'] | TTACCTTCTATTTTATGAATATGAAGCCAATGTGATATCTCCAAAACTTCAAGGTATCTCAAAACATCTCTGGATCTACCCTCATCATTCTTCATAGTTCTACTCAAGAGAATACACACTCCACCAGCTGTGTTCTTGATTCTATCCTCTCTTCTTCAATACAGTATTTCCAAATATTTCCCTCCTTACTATGTACAGAGATATACAGGTCTGCCAATGAATGAGGATTAGGGATAGGGGAATGACATGTTTCTCCCCAATATCCCCTCCAGCTTCCCTTCACTGCCAAACTTGTCAAGAGTAACCTCTTCTTCCTTGCC... | TTACCTTCTATTTTATGAATATGAAGCCAATGTGATATCTCCAAAACTTCAAGGTATCTCAAAACATCTCTGGATCTACCCTCATCATTCTTCATAGTTCTACTCAAGAGAATACACACTCCACCAGCTGTGTTCTTGATTCTATCCTCTCTTCTTCAATACAGTATTTCCAAATATTTCCCTCCTTACTATGTACAGAGATATACAGGTCTGCCAATGAATGAGGATTAGGGATAGGGGAATGACATGTTTCTCCCCAATATCCCCTCCAGCTTCCCTTCACTGCCAAACTTGTCAAGAGTAACCTCTTCTTCCTTGCC... | pathogenic | 290,065 |
Is the chromosome 18, position 45967161 variant in EPG5 (ectopic P-granules 5 autophagy tethering factor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GCAGCCATAAAAAAGAACAAAATCGTGTCCCCTGCAGCAACATGGATGCAGTTAGAGGTAATTATCCTAAGCAAATTAATGCAGAAACAGAAAATCAAATACCACGTTCTCACTTATAAGTGGGAGCTAAACATTAAGTACACATGGACACAAAGAAGGGAATAATAGACACCAGGGCCTACTTGAGGGCAGAAGGTGGGAAGAAGGGAAGGATAAAAAAACCACCTGTCAAGCACTATACTCATTACCTGGGTGACAAAATAATCTGCACACTAAACCACCAAGGTGTGCATTTGCCCATGTAGTAAACCTCCACTTGT... | GCAGCCATAAAAAAGAACAAAATCGTGTCCCCTGCAGCAACATGGATGCAGTTAGAGGTAATTATCCTAAGCAAATTAATGCAGAAACAGAAAATCAAATACCACGTTCTCACTTATAAGTGGGAGCTAAACATTAAGTACACATGGACACAAAGAAGGGAATAATAGACACCAGGGCCTACTTGAGGGCAGAAGGTGGGAAGAAGGGAAGGATAAAAAAACCACCTGTCAAGCACTATACTCATTACCTGGGTGACAAAATAATCTGCACACTAAACCACCAAGGTGTGCATTTGCCCATGTAGTAAACCTCCACTTGT... | benign | 290,066 |
Variant on chromosome 18, at position 46477738, affecting LOXHD1 (lipoxygenase homology PLAT domains 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | ACACCCACACATTCAAACACACACTATACCTTATACCTGCACACTACATAATACACTCACTGCACACACACTCACACCCCTCCCTCACTGTGGGCCCACCTGTGACGGGACTGAGCCAGGAGATGGCAGGAAGCTTAATTTTAAGTTTGATGTTTTAATCTTTACTTTGGGGCTGGACATTTAAATTATAGAATGGAGATGGATTTCATGACTTAAAGTGTTTGTTGGACTTTTTATTACCTACTGGAGTCCACAGGAGTTGTGAGGCTTGTCTAAATTTTCATCTAGGGACAGGGGAAGAACCAGTTCCACAGAAGGAG... | ACACCCACACATTCAAACACACACTATACCTTATACCTGCACACTACATAATACACTCACTGCACACACACTCACACCCCTCCCTCACTGTGGGCCCACCTGTGACGGGACTGAGCCAGGAGATGGCAGGAAGCTTAATTTTAAGTTTGATGTTTTAATCTTTACTTTGGGGCTGGACATTTAAATTATAGAATGGAGATGGATTTCATGACTTAAAGTGTTTGTTGGACTTTTTATTACCTACTGGAGTCCACAGGAGTTGTGAGGCTTGTCTAAATTTTCATCTAGGGACAGGGGAAGAACCAGTTCCACAGAAGGAG... | pathogenic | 290,127 |
Chromosome 18, position 46483755, gene LOXHD1 (lipoxygenase homology PLAT domains 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGCTGCATTCCTGAGGCTGGAGGGAAAGATGCTTCAATTAAGAGCGGCTTTTTCTTCTGCAGGATGGAAAATTCTACAACTGAGGCCCAGGACTGTGGGGCAGGAAGCTTACAGCTGGGCCTTTGCCTTCCTTTCCTCCTAAGACAGGAAGGTGCCAGGTGGTGCTGAGAACTCTCTCTCGGCCAACATTGTGGGTTTAAGGGTAATGTGAGGGTGACTATTTTATTTTGTTTTGTTTATTTTGGGAGGTTTGCAGATGAGCAGTATCAGCAGACACAGTCCTTGTGGATGGGAGGTAGTACTGAGCCATGGAAAGGGCT... | GGCTGCATTCCTGAGGCTGGAGGGAAAGATGCTTCAATTAAGAGCGGCTTTTTCTTCTGCAGGATGGAAAATTCTACAACTGAGGCCCAGGACTGTGGGGCAGGAAGCTTACAGCTGGGCCTTTGCCTTCCTTTCCTCCTAAGACAGGAAGGTGCCAGGTGGTGCTGAGAACTCTCTCTCGGCCAACATTGTGGGTTTAAGGGTAATGTGAGGGTGACTATTTTATTTTGTTTTGTTTATTTTGGGAGGTTTGCAGATGAGCAGTATCAGCAGACACAGTCCTTGTGGATGGGAGGTAGTACTGAGCCATGGAAAGGGCT... | benign | 290,135 |
Considering the genetic mutation at chromosome 18, position 46485126, impacting LOXHD1 (lipoxygenase homology PLAT domains 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | CAGAAGGCTCTGATGAGAGAATGCAAAGCCCCTTATCTGGGGTACTGTGAGGCAGATGGACCATTGGATTACCCTAGCTTGTCTCTGGTCCCTACTCTGCCCACATGGATGGTGGGTTTTCACTATGACCGTGTAAACAGCAGGCTTCATAACTGTGTTTCTTTGTCATTTTAGATTGAGGGAAGGGGAAGGCAAGGAAAGTCTCTGCTCTCTGGCACTGTTTGACTTTCTCAGTATCCTTCCAAGGAAGCATCCCTGGATCCAAAGACTAGATGCACCCCAGGTCATCTGGCCTACTCCCCTGCCTCTGATAGTAGATG... | CAGAAGGCTCTGATGAGAGAATGCAAAGCCCCTTATCTGGGGTACTGTGAGGCAGATGGACCATTGGATTACCCTAGCTTGTCTCTGGTCCCTACTCTGCCCACATGGATGGTGGGTTTTCACTATGACCGTGTAAACAGCAGGCTTCATAACTGTGTTTCTTTGTCATTTTAGATTGAGGGAAGGGGAAGGCAAGGAAAGTCTCTGCTCTCTGGCACTGTTTGACTTTCTCAGTATCCTTCCAAGGAAGCATCCCTGGATCCAAAGACTAGATGCACCCCAGGTCATCTGGCCTACTCCCCTGCCTCTGATAGTAGATG... | pathogenic | 290,139 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 18, position 46489045, gene LOXHD1 (lipoxygenase homology PLAT domains 1). What disease(s) is it linked to if pathogenic? | pathogenic | TCACAGGTTGCTGGGAAGGAACAGATGAAAGAGGATCAGGAACTTGAATATTCAGGGCAGGTAAACGTGATGAGCCCCATCTAACAGATCTCCCGTGGGGCCAGCACACCCAAGGACAAGCCCTACTAGAGGAAGGCTCTCAGTAGTCACGCAAAGGAAGAAGCACATGGAAGTCACTAGCATAAAGGGGCCACCAGCAAAGCTACTGTGGGCTTAGGAGGCATGGGTCGTAGTTTGAAAGGCAAGACAGGAGAGGAGCGAACAGATCCCCATTGAAATCTTGCCTTCATCCTGGGCATGGCATCTGCAGAGGGCAGCGA... | TCACAGGTTGCTGGGAAGGAACAGATGAAAGAGGATCAGGAACTTGAATATTCAGGGCAGGTAAACGTGATGAGCCCCATCTAACAGATCTCCCGTGGGGCCAGCACACCCAAGGACAAGCCCTACTAGAGGAAGGCTCTCAGTAGTCACGCAAAGGAAGAAGCACATGGAAGTCACTAGCATAAAGGGGCCACCAGCAAAGCTACTGTGGGCTTAGGAGGCATGGGTCGTAGTTTGAAAGGCAAGACAGGAGAGGAGCGAACAGATCCCCATTGAAATCTTGCCTTCATCCTGGGCATGGCATCTGCAGAGGGCAGCGA... | pathogenic | 290,145 |
Variant in LOXHD1 (lipoxygenase homology PLAT domains 1), chromosome 18, position 46518197—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77', 'Hearing_impairment'] | CAAATCCCAGTTCCCCTACTTACTTGCTGTATAACCTTGGGCAAGTTATTTCACCTCTATGTGTCTCAGGCATCTTACTGGTGGAGACGATAAGAGTACAAAGAGTGATAAGAGGGGTGTTGTGAGTTAATATATATTAAAAAGCACTTGCAACAGTGCCTGACATGGAATAAATGTTCAATGCATGTTAGCCATTATTATTATCACGACTGCTGTTGATATGGGAAGAATTCAAGGAGGAAATGGGAGTTGCAAAATGAGACAGCAGAAGTGCTAAAAGAAGACAGACACAAAATCAGACCCCCAGGGATGAGCTGCAT... | CAAATCCCAGTTCCCCTACTTACTTGCTGTATAACCTTGGGCAAGTTATTTCACCTCTATGTGTCTCAGGCATCTTACTGGTGGAGACGATAAGAGTACAAAGAGTGATAAGAGGGGTGTTGTGAGTTAATATATATTAAAAAGCACTTGCAACAGTGCCTGACATGGAATAAATGTTCAATGCATGTTAGCCATTATTATTATCACGACTGCTGTTGATATGGGAAGAATTCAAGGAGGAAATGGGAGTTGCAAAATGAGACAGCAGAAGTGCTAAAAGAAGACAGACACAAAATCAGACCCCCAGGGATGAGCTGCAT... | pathogenic | 290,156 |
Variant chromosome 18, position 46522136, gene LOXHD1 (lipoxygenase homology PLAT domains 1): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | CACCATCCGTCTGGCCACAGATGGAGATGTCTGGGGGGTAGGGGAAGGATGTGCGCTATAGAAAGTGCTGCTCTCTGAGTCTCTAGCAGGCGAGAGGCAGGAGAGTGGCAGGCCCCCACACTCCTGCCTGTCAAGGTTTTTAGAGCCCCACTTCTGTTTCCATATACAATGTAGGCAGAGCACACTCAGGTCCAGGTGATTTCTTCTCACCTTTGTGGGACAGCTTCTGACCTGGTCCAAGAAGCCCATTGGTTTTGATTCAGTACCAGAGATAAGGGCTGGGGCCTTCTGTTGACCCCATAGCCATGAGCCAAAAAGAG... | CACCATCCGTCTGGCCACAGATGGAGATGTCTGGGGGGTAGGGGAAGGATGTGCGCTATAGAAAGTGCTGCTCTCTGAGTCTCTAGCAGGCGAGAGGCAGGAGAGTGGCAGGCCCCCACACTCCTGCCTGTCAAGGTTTTTAGAGCCCCACTTCTGTTTCCATATACAATGTAGGCAGAGCACACTCAGGTCCAGGTGATTTCTTCTCACCTTTGTGGGACAGCTTCTGACCTGGTCCAAGAAGCCCATTGGTTTTGATTCAGTACCAGAGATAAGGGCTGGGGCCTTCTGTTGACCCCATAGCCATGAGCCAAAAAGAG... | pathogenic | 290,165 |
Variant at chromosome position 46524502, chromosome 18, gene LOXHD1 (lipoxygenase homology PLAT domains 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | GGTAAGTTATCTGTGGTGTGTGTCTCCTCTCCAAGAACTGAGGGAGTTGCTAACTCCCAATGTACAGACCAAAGACAGCATTCTTGTCATTTGTTTGGAGTGTCAAGCTTCTAAAAGCTCTTTTGACCAATTATCCTACTTGAACCTAGCACTATTATGTGAAGGAGGGTAAGAAAAATAACCTCTCACCACGTATAGGCATTATATGCCCAAAAAGCTCCCTATGGTCAACAAAAATGCTGTTGGCAAAAGCAAGGTCTCATAGAAAGAAGGAATTTGAAGAAGAACATAAAAATGTATCATATATGCCACATAGTGAA... | GGTAAGTTATCTGTGGTGTGTGTCTCCTCTCCAAGAACTGAGGGAGTTGCTAACTCCCAATGTACAGACCAAAGACAGCATTCTTGTCATTTGTTTGGAGTGTCAAGCTTCTAAAAGCTCTTTTGACCAATTATCCTACTTGAACCTAGCACTATTATGTGAAGGAGGGTAAGAAAAATAACCTCTCACCACGTATAGGCATTATATGCCCAAAAAGCTCCCTATGGTCAACAAAAATGCTGTTGGCAAAAGCAAGGTCTCATAGAAAGAAGGAATTTGAAGAAGAACATAAAAATGTATCATATATGCCACATAGTGAA... | pathogenic | 290,176 |
Classify the chromosome 18 variant at position 46524547 affecting gene LOXHD1 (lipoxygenase homology PLAT domains 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | GTTGCTAACTCCCAATGTACAGACCAAAGACAGCATTCTTGTCATTTGTTTGGAGTGTCAAGCTTCTAAAAGCTCTTTTGACCAATTATCCTACTTGAACCTAGCACTATTATGTGAAGGAGGGTAAGAAAAATAACCTCTCACCACGTATAGGCATTATATGCCCAAAAAGCTCCCTATGGTCAACAAAAATGCTGTTGGCAAAAGCAAGGTCTCATAGAAAGAAGGAATTTGAAGAAGAACATAAAAATGTATCATATATGCCACATAGTGAATGAAAGTCCTAGAAGACAGCAATTTCCAAAACACACCAGATTAAT... | GTTGCTAACTCCCAATGTACAGACCAAAGACAGCATTCTTGTCATTTGTTTGGAGTGTCAAGCTTCTAAAAGCTCTTTTGACCAATTATCCTACTTGAACCTAGCACTATTATGTGAAGGAGGGTAAGAAAAATAACCTCTCACCACGTATAGGCATTATATGCCCAAAAAGCTCCCTATGGTCAACAAAAATGCTGTTGGCAAAAGCAAGGTCTCATAGAAAGAAGGAATTTGAAGAAGAACATAAAAATGTATCATATATGCCACATAGTGAATGAAAGTCCTAGAAGACAGCAATTTCCAAAACACACCAGATTAAT... | pathogenic | 290,177 |
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