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 |
|---|---|---|---|---|---|
Gene mutation in PCDH15 (protocadherin related 15) at chromosome 10, position 53823312—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | GATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATACATAGGCTTCAAGAAAAAACAGAACCTATCAATCATATCAGTTTTAACTTATTTGTAACAGTCTGCTTTTTTCTTGGAACATTCATATAAAACTACGATCAAAAACTAAATGTAAATGTTACTGCATCCACATGATAGACATGCCTTTGGTTTAAGTTGGGTATCTAATTTTCATGCCCACATATTC... | GATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATACATAGGCTTCAAGAAAAAACAGAACCTATCAATCATATCAGTTTTAACTTATTTGTAACAGTCTGCTTTTTTCTTGGAACATTCATATAAAACTACGATCAAAAACTAAATGTAAATGTTACTGCATCCACATGATAGACATGCCTTTGGTTTAAGTTGGGTATCTAATTTTCATGCCCACATATTC... | pathogenic | 160,615 |
Is the genetic variant on chromosome 10, position 53823313, gene PCDH15 (protocadherin related 15), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | ATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATACATAGGCTTCAAGAAAAAACAGAACCTATCAATCATATCAGTTTTAACTTATTTGTAACAGTCTGCTTTTTTCTTGGAACATTCATATAAAACTACGATCAAAAACTAAATGTAAATGTTACTGCATCCACATGATAGACATGCCTTTGGTTTAAGTTGGGTATCTAATTTTCATGCCCACATATTCC... | ATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATACATAGGCTTCAAGAAAAAACAGAACCTATCAATCATATCAGTTTTAACTTATTTGTAACAGTCTGCTTTTTTCTTGGAACATTCATATAAAACTACGATCAAAAACTAAATGTAAATGTTACTGCATCCACATGATAGACATGCCTTTGGTTTAAGTTGGGTATCTAATTTTCATGCCCACATATTCC... | pathogenic | 160,616 |
A mutation at chromosome position 53823367 on chromosome 10 in gene PCDH15 (protocadherin related 15): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATACATAGGCTTCAAGAAAAAACAGAACCTATCAATCATATCAGTTTTAACTTATTTGTAACAGTCTGCTTTTTTCTTGGAACATTCATATAAAACTACGATCAAAAACTAAATGTAAATGTTACTGCATCCACATGATAGACATGCCTTTGGTTTAAGTTGGGTATCTAATTTTCATGCCCACATATTCCCACTAAAAAAGAGATTAAAATTACTTACTTTTCAAATAAATGTAGAACAAATTA... | GAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATACATAGGCTTCAAGAAAAAACAGAACCTATCAATCATATCAGTTTTAACTTATTTGTAACAGTCTGCTTTTTTCTTGGAACATTCATATAAAACTACGATCAAAAACTAAATGTAAATGTTACTGCATCCACATGATAGACATGCCTTTGGTTTAAGTTGGGTATCTAATTTTCATGCCCACATATTCCCACTAAAAAAGAGATTAAAATTACTTACTTTTCAAATAAATGTAGAACAAATTA... | benign | 160,618 |
Is the variant located on chromosome 10 at position 53827407, gene PCDH15 (protocadherin related 15), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23'] | TTTTCACAGAAAATTGTATCTAATAAAGTCTGTTTACTATACATAGATAAAAATTCACTTCTATTAAACCTGGATGATGCCAATCCTAAAATAAAAATTTTAAATGAGAGTTTAAAAATTGCTTCTATGATGTCTTAACTCTGTAAAACTGGTTAATGCACACTGACTTTTAAAGTAGATATATTTTGTTTGGAAGAAAGTAAATATACAACTACTATGATGACAATTAATTACAAAGTAATTATAGCATTCATAGGAAGTTATCATACGAAGTTATTACTTTGTGAAGTAGTTTTTCCAAAATGATCTTTGACTTTGTT... | TTTTCACAGAAAATTGTATCTAATAAAGTCTGTTTACTATACATAGATAAAAATTCACTTCTATTAAACCTGGATGATGCCAATCCTAAAATAAAAATTTTAAATGAGAGTTTAAAAATTGCTTCTATGATGTCTTAACTCTGTAAAACTGGTTAATGCACACTGACTTTTAAAGTAGATATATTTTGTTTGGAAGAAAGTAAATATACAACTACTATGATGACAATTAATTACAAAGTAATTATAGCATTCATAGGAAGTTATCATACGAAGTTATTACTTTGTGAAGTAGTTTTTCCAAAATGATCTTTGACTTTGTT... | pathogenic | 160,625 |
Clinically, how would you classify the variant at chromosome 10, position 53827437, gene PCDH15 (protocadherin related 15): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TGTTTACTATACATAGATAAAAATTCACTTCTATTAAACCTGGATGATGCCAATCCTAAAATAAAAATTTTAAATGAGAGTTTAAAAATTGCTTCTATGATGTCTTAACTCTGTAAAACTGGTTAATGCACACTGACTTTTAAAGTAGATATATTTTGTTTGGAAGAAAGTAAATATACAACTACTATGATGACAATTAATTACAAAGTAATTATAGCATTCATAGGAAGTTATCATACGAAGTTATTACTTTGTGAAGTAGTTTTTCCAAAATGATCTTTGACTTTGTTCTTTTTAAGATAATTGATAATAATCATTTA... | TGTTTACTATACATAGATAAAAATTCACTTCTATTAAACCTGGATGATGCCAATCCTAAAATAAAAATTTTAAATGAGAGTTTAAAAATTGCTTCTATGATGTCTTAACTCTGTAAAACTGGTTAATGCACACTGACTTTTAAAGTAGATATATTTTGTTTGGAAGAAAGTAAATATACAACTACTATGATGACAATTAATTACAAAGTAATTATAGCATTCATAGGAAGTTATCATACGAAGTTATTACTTTGTGAAGTAGTTTTTCCAAAATGATCTTTGACTTTGTTCTTTTTAAGATAATTGATAATAATCATTTA... | benign | 160,628 |
Does the genetic variant at chromosome 10, position 53827525, impacting gene PCDH15 (protocadherin related 15), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1F'] | TTGCTTCTATGATGTCTTAACTCTGTAAAACTGGTTAATGCACACTGACTTTTAAAGTAGATATATTTTGTTTGGAAGAAAGTAAATATACAACTACTATGATGACAATTAATTACAAAGTAATTATAGCATTCATAGGAAGTTATCATACGAAGTTATTACTTTGTGAAGTAGTTTTTCCAAAATGATCTTTGACTTTGTTCTTTTTAAGATAATTGATAATAATCATTTAAAACTAATTCATTTTCTAGTAACTTAATGCTTAGAATTCCTGTAAAAAGTTCTTGAATAGATAGATAGGTTAAACATTTACTAAAGAT... | TTGCTTCTATGATGTCTTAACTCTGTAAAACTGGTTAATGCACACTGACTTTTAAAGTAGATATATTTTGTTTGGAAGAAAGTAAATATACAACTACTATGATGACAATTAATTACAAAGTAATTATAGCATTCATAGGAAGTTATCATACGAAGTTATTACTTTGTGAAGTAGTTTTTCCAAAATGATCTTTGACTTTGTTCTTTTTAAGATAATTGATAATAATCATTTAAAACTAATTCATTTTCTAGTAACTTAATGCTTAGAATTCCTGTAAAAAGTTCTTGAATAGATAGATAGGTTAAACATTTACTAAAGAT... | pathogenic | 160,631 |
Is the variant located on chromosome 10 at position 53831388, gene PCDH15 (protocadherin related 15), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic | AAGTATTTGTTGTATTTCAGACTACCTTGTATAACATCCAGAGCGCTTCAGTTTTGATCATTGCATACTGTGCCAAATACAAGAATTTTTCTCACTGATTTGCTTGCTAGCAGGATATAATAAAGCTCCTTTGGAAAATAGTTAAGTGTAAAAAGATAACTGGTAATACGGAATGGATTTAACATTATAATTAATAATGGGTTGATGGCTTAATAATTTAAAACAATTTGTTCAGTATCAATTTTGTTCATCAGCTTTAGATTTAGCATATCAATTGATTGGTTAAGGACACATTAAGCTCCAGTATATCAACCTTAATG... | AAGTATTTGTTGTATTTCAGACTACCTTGTATAACATCCAGAGCGCTTCAGTTTTGATCATTGCATACTGTGCCAAATACAAGAATTTTTCTCACTGATTTGCTTGCTAGCAGGATATAATAAAGCTCCTTTGGAAAATAGTTAAGTGTAAAAAGATAACTGGTAATACGGAATGGATTTAACATTATAATTAATAATGGGTTGATGGCTTAATAATTTAAAACAATTTGTTCAGTATCAATTTTGTTCATCAGCTTTAGATTTAGCATATCAATTGATTGGTTAAGGACACATTAAGCTCCAGTATATCAACCTTAATG... | pathogenic | 160,641 |
Evaluate if the mutation on chromosome 10 at position 53857199 in PCDH15 (protocadherin related 15) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23'] | ACAAGTCTCATACATTCGTAGAGATAATATTCTAGTGGAAATTGACTATAATAATAACATTAGATAATGCTTTGTAGAAAAATAAACTAGAATAAAGGGTTAAAATTTGAAGCTGGGTATCATTTCTTACATAATAGACAACGGAATCAGAGAAAGCCTGTCTCAATAGGCTTTTATTAAAGCAGCTAAAAGTTAGGCACAATTCTAATTATTTTTAAAGTATAATCAGCTATTATTTTGAAAAGGCTCAGTGTATATAAACTACTTCTGCAGAAATAAACAAGACACTGTACAATTGATATTCCATGCATAAATGTTGA... | ACAAGTCTCATACATTCGTAGAGATAATATTCTAGTGGAAATTGACTATAATAATAACATTAGATAATGCTTTGTAGAAAAATAAACTAGAATAAAGGGTTAAAATTTGAAGCTGGGTATCATTTCTTACATAATAGACAACGGAATCAGAGAAAGCCTGTCTCAATAGGCTTTTATTAAAGCAGCTAAAAGTTAGGCACAATTCTAATTATTTTTAAAGTATAATCAGCTATTATTTTGAAAAGGCTCAGTGTATATAAACTACTTCTGCAGAAATAAACAAGACACTGTACAATTGATATTCCATGCATAAATGTTGA... | pathogenic | 160,653 |
Clinical impact (benign or pathogenic) of the variant at chromosome 10, location 53857219, gene PCDH15 (protocadherin related 15): what disease(s) if pathogenic? | pathogenic; ['Usher_syndrome_type_1F'] | GAGATAATATTCTAGTGGAAATTGACTATAATAATAACATTAGATAATGCTTTGTAGAAAAATAAACTAGAATAAAGGGTTAAAATTTGAAGCTGGGTATCATTTCTTACATAATAGACAACGGAATCAGAGAAAGCCTGTCTCAATAGGCTTTTATTAAAGCAGCTAAAAGTTAGGCACAATTCTAATTATTTTTAAAGTATAATCAGCTATTATTTTGAAAAGGCTCAGTGTATATAAACTACTTCTGCAGAAATAAACAAGACACTGTACAATTGATATTCCATGCATAAATGTTGATAACCATCACCCTCATAAAA... | GAGATAATATTCTAGTGGAAATTGACTATAATAATAACATTAGATAATGCTTTGTAGAAAAATAAACTAGAATAAAGGGTTAAAATTTGAAGCTGGGTATCATTTCTTACATAATAGACAACGGAATCAGAGAAAGCCTGTCTCAATAGGCTTTTATTAAAGCAGCTAAAAGTTAGGCACAATTCTAATTATTTTTAAAGTATAATCAGCTATTATTTTGAAAAGGCTCAGTGTATATAAACTACTTCTGCAGAAATAAACAAGACACTGTACAATTGATATTCCATGCATAAATGTTGATAACCATCACCCTCATAAAA... | pathogenic | 160,654 |
Determine whether the variant at chromosome 10, position 53866870, in gene PCDH15 (protocadherin related 15) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TAAATGCCCACTTTCCTTGCTTTGTTCCTTTGTTTCGTTCCTGTGTTAATTTGTGTGTTTTGTTCAATTCTTTGTTCAAAACACCAACGACATGGACAATTCACACTCAAAGCCGTCATGTAACAATACTATAGCTAGGCATGGTGGTGAGTGCTTGCAGTCCTAGGTGCTAGGGTGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGATTTTGAGGTTGCAATAAGCTTTGATTACACCACTGCACTTTGACCTGGGTGATAGAACCAGACCTTGTTTCTTAGCAACAACAACAACGATACTAATTATAGAATTTTGTAT... | TAAATGCCCACTTTCCTTGCTTTGTTCCTTTGTTTCGTTCCTGTGTTAATTTGTGTGTTTTGTTCAATTCTTTGTTCAAAACACCAACGACATGGACAATTCACACTCAAAGCCGTCATGTAACAATACTATAGCTAGGCATGGTGGTGAGTGCTTGCAGTCCTAGGTGCTAGGGTGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGATTTTGAGGTTGCAATAAGCTTTGATTACACCACTGCACTTTGACCTGGGTGATAGAACCAGACCTTGTTTCTTAGCAACAACAACAACGATACTAATTATAGAATTTTGTAT... | benign | 160,669 |
Considering the genetic mutation at chromosome 10, position 53866870, impacting PCDH15 (protocadherin related 15): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TAAATGCCCACTTTCCTTGCTTTGTTCCTTTGTTTCGTTCCTGTGTTAATTTGTGTGTTTTGTTCAATTCTTTGTTCAAAACACCAACGACATGGACAATTCACACTCAAAGCCGTCATGTAACAATACTATAGCTAGGCATGGTGGTGAGTGCTTGCAGTCCTAGGTGCTAGGGTGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGATTTTGAGGTTGCAATAAGCTTTGATTACACCACTGCACTTTGACCTGGGTGATAGAACCAGACCTTGTTTCTTAGCAACAACAACAACGATACTAATTATAGAATTTTGTAT... | TAAATGCCCACTTTCCTTGCTTTGTTCCTTTGTTTCGTTCCTGTGTTAATTTGTGTGTTTTGTTCAATTCTTTGTTCAAAACACCAACGACATGGACAATTCACACTCAAAGCCGTCATGTAACAATACTATAGCTAGGCATGGTGGTGAGTGCTTGCAGTCCTAGGTGCTAGGGTGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGATTTTGAGGTTGCAATAAGCTTTGATTACACCACTGCACTTTGACCTGGGTGATAGAACCAGACCTTGTTTCTTAGCAACAACAACAACGATACTAATTATAGAATTTTGTAT... | benign | 160,670 |
Gene PCDH15 (protocadherin related 15) variant at chromosome 10, position 53903268—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1F'] | TCAAGTCTAGATCAGCATTTGCAAATGCCTTGCCAAGAATTAGGTTTCTGTATTGAAAAAGCCTCCCAAACCTTGATTACTGCCATCACAATAGGCAGTGGAGGAGGTATGGGGATCTGTTCAGGACAAAAACCACCAAGTCATTCTTGATTTTTCCTAATGTCCCATGTATGATTCATCGGCAAATCCTATATGTTCTATCCTTTAACCCCCTTCTCAAGGTCTCCATAGCCTATCAACGTCGTTCAAGCTACCGTCAAATTTTTCCTGGACTCGTCATGCATTAAACTCTACTTGTCCAAAACACTGTGTTACCCATT... | TCAAGTCTAGATCAGCATTTGCAAATGCCTTGCCAAGAATTAGGTTTCTGTATTGAAAAAGCCTCCCAAACCTTGATTACTGCCATCACAATAGGCAGTGGAGGAGGTATGGGGATCTGTTCAGGACAAAAACCACCAAGTCATTCTTGATTTTTCCTAATGTCCCATGTATGATTCATCGGCAAATCCTATATGTTCTATCCTTTAACCCCCTTCTCAAGGTCTCCATAGCCTATCAACGTCGTTCAAGCTACCGTCAAATTTTTCCTGGACTCGTCATGCATTAAACTCTACTTGTCCAAAACACTGTGTTACCCATT... | pathogenic | 160,675 |
Chromosome 10, position 53903302, gene PCDH15 (protocadherin related 15): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Rare_genetic_deafness', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | AAGAATTAGGTTTCTGTATTGAAAAAGCCTCCCAAACCTTGATTACTGCCATCACAATAGGCAGTGGAGGAGGTATGGGGATCTGTTCAGGACAAAAACCACCAAGTCATTCTTGATTTTTCCTAATGTCCCATGTATGATTCATCGGCAAATCCTATATGTTCTATCCTTTAACCCCCTTCTCAAGGTCTCCATAGCCTATCAACGTCGTTCAAGCTACCGTCAAATTTTTCCTGGACTCGTCATGCATTAAACTCTACTTGTCCAAAACACTGTGTTACCCATTCCCAACATCCCCCATGCAGCATCTACAATAATCT... | AAGAATTAGGTTTCTGTATTGAAAAAGCCTCCCAAACCTTGATTACTGCCATCACAATAGGCAGTGGAGGAGGTATGGGGATCTGTTCAGGACAAAAACCACCAAGTCATTCTTGATTTTTCCTAATGTCCCATGTATGATTCATCGGCAAATCCTATATGTTCTATCCTTTAACCCCCTTCTCAAGGTCTCCATAGCCTATCAACGTCGTTCAAGCTACCGTCAAATTTTTCCTGGACTCGTCATGCATTAAACTCTACTTGTCCAAAACACTGTGTTACCCATTCCCAACATCCCCCATGCAGCATCTACAATAATCT... | pathogenic | 160,679 |
Determine if the mutation at chromosome 10, position 53959771 in gene PCDH15 (protocadherin related 15) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Usher_syndrome_type_1F'] | CAAACTGTGAAAAATGATACTGTGGATAAGGAGGGGACTACTGTATTCCATAGCAAAGAATTGGAATCCAATCCAAAGGATTGGAAGCACAGGTTACTGTGTCAGAAAAAAAAGGAAAATAATAGATAATAATGTACATGTGGGTGAGAATAACCTTTTAAAACAGATTAAACAAGAATTCTTATTTGTTTTACATATGGTTTACATCTCGATGATTTACATACATGCTATGGAAGATTTTCTGGTAATTATATTACATAATTTAATTTTGTGTAGATTCTTCTAAACGCAGCTTTGTATGAGAGGATGAAACTGCTTGG... | CAAACTGTGAAAAATGATACTGTGGATAAGGAGGGGACTACTGTATTCCATAGCAAAGAATTGGAATCCAATCCAAAGGATTGGAAGCACAGGTTACTGTGTCAGAAAAAAAAGGAAAATAATAGATAATAATGTACATGTGGGTGAGAATAACCTTTTAAAACAGATTAAACAAGAATTCTTATTTGTTTTACATATGGTTTACATCTCGATGATTTACATACATGCTATGGAAGATTTTCTGGTAATTATATTACATAATTTAATTTTGTGTAGATTCTTCTAAACGCAGCTTTGTATGAGAGGATGAAACTGCTTGG... | pathogenic | 160,695 |
Assess the variant on chromosome 10, position 53959806, impacting PCDH15 (protocadherin related 15): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23'] | GACTACTGTATTCCATAGCAAAGAATTGGAATCCAATCCAAAGGATTGGAAGCACAGGTTACTGTGTCAGAAAAAAAAGGAAAATAATAGATAATAATGTACATGTGGGTGAGAATAACCTTTTAAAACAGATTAAACAAGAATTCTTATTTGTTTTACATATGGTTTACATCTCGATGATTTACATACATGCTATGGAAGATTTTCTGGTAATTATATTACATAATTTAATTTTGTGTAGATTCTTCTAAACGCAGCTTTGTATGAGAGGATGAAACTGCTTGGTTCAGTGGGTTAAGTGCTTGCAGATGTATCCCTCA... | GACTACTGTATTCCATAGCAAAGAATTGGAATCCAATCCAAAGGATTGGAAGCACAGGTTACTGTGTCAGAAAAAAAAGGAAAATAATAGATAATAATGTACATGTGGGTGAGAATAACCTTTTAAAACAGATTAAACAAGAATTCTTATTTGTTTTACATATGGTTTACATCTCGATGATTTACATACATGCTATGGAAGATTTTCTGGTAATTATATTACATAATTTAATTTTGTGTAGATTCTTCTAAACGCAGCTTTGTATGAGAGGATGAAACTGCTTGGTTCAGTGGGTTAAGTGCTTGCAGATGTATCCCTCA... | pathogenic | 160,696 |
Clinical classification of chromosome 10, position 53995691, gene PCDH15 (protocadherin related 15): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1F'] | AAAGCATAACATTTAAAAAAAAGTAATTATGTAATATAGTAATTTCAAAAACGTTCATGGAATTGAGCTTTTACTTAGGATTCGTGTAGGTGCAACCAAATTGCAACTATGCTCACTTAAGGGTCCCAGTTTGCAACAATGATTCAAAAGCTCAATTCTGATCATAGCTATATCAAAAGATTGTTGGTGTTTCCAGGGGCAAAACTGAGTCTGATAAATATATACTCAATAACTGAAATAAATAGATTCAGTATTTCAATGGAATGACTGGCATCCACTTTCTATCTAATGAAAGGCCAATATCAATTATTAAACGCTAA... | AAAGCATAACATTTAAAAAAAAGTAATTATGTAATATAGTAATTTCAAAAACGTTCATGGAATTGAGCTTTTACTTAGGATTCGTGTAGGTGCAACCAAATTGCAACTATGCTCACTTAAGGGTCCCAGTTTGCAACAATGATTCAAAAGCTCAATTCTGATCATAGCTATATCAAAAGATTGTTGGTGTTTCCAGGGGCAAAACTGAGTCTGATAAATATATACTCAATAACTGAAATAAATAGATTCAGTATTTCAATGGAATGACTGGCATCCACTTTCTATCTAATGAAAGGCCAATATCAATTATTAAACGCTAA... | pathogenic | 160,705 |
Considering the variant on chromosome 10, location 53995694, involving gene PCDH15 (protocadherin related 15), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Usher_syndrome_type_1D'] | GCATAACATTTAAAAAAAAGTAATTATGTAATATAGTAATTTCAAAAACGTTCATGGAATTGAGCTTTTACTTAGGATTCGTGTAGGTGCAACCAAATTGCAACTATGCTCACTTAAGGGTCCCAGTTTGCAACAATGATTCAAAAGCTCAATTCTGATCATAGCTATATCAAAAGATTGTTGGTGTTTCCAGGGGCAAAACTGAGTCTGATAAATATATACTCAATAACTGAAATAAATAGATTCAGTATTTCAATGGAATGACTGGCATCCACTTTCTATCTAATGAAAGGCCAATATCAATTATTAAACGCTAAAAA... | GCATAACATTTAAAAAAAAGTAATTATGTAATATAGTAATTTCAAAAACGTTCATGGAATTGAGCTTTTACTTAGGATTCGTGTAGGTGCAACCAAATTGCAACTATGCTCACTTAAGGGTCCCAGTTTGCAACAATGATTCAAAAGCTCAATTCTGATCATAGCTATATCAAAAGATTGTTGGTGTTTCCAGGGGCAAAACTGAGTCTGATAAATATATACTCAATAACTGAAATAAATAGATTCAGTATTTCAATGGAATGACTGGCATCCACTTTCTATCTAATGAAAGGCCAATATCAATTATTAAACGCTAAAAA... | pathogenic | 160,706 |
A genetic variant on chromosome 10, position 54020296, affects the gene PCDH15 (protocadherin related 15). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1F'] | TAATAGCTTTGCTATTGTAGTACTGGCCACTAAACAAAATAAAAATAAAAATAAAGAAAAAGGGAGTAATCCTCAGGAACTTTTATTTTTAGGAATAAATGTATCTGCACTTTCCCACAGTCTTCAGGTAACCAACAGAATCCAAATGATATGGAATTGTCAGTAATTATCATAGGTAAATTCTGCTAAACAATTCACCTTAAACACATAATGGACTTTAACTATAATCACTTCAAAAGAACAAATGAAAAGGCATTCATGGGAACAAAATACAACCTGAAAATATAATACTGGCAAAGATTAAGTGAACATAGATGCCT... | TAATAGCTTTGCTATTGTAGTACTGGCCACTAAACAAAATAAAAATAAAAATAAAGAAAAAGGGAGTAATCCTCAGGAACTTTTATTTTTAGGAATAAATGTATCTGCACTTTCCCACAGTCTTCAGGTAACCAACAGAATCCAAATGATATGGAATTGTCAGTAATTATCATAGGTAAATTCTGCTAAACAATTCACCTTAAACACATAATGGACTTTAACTATAATCACTTCAAAAGAACAAATGAAAAGGCATTCATGGGAACAAAATACAACCTGAAAATATAATACTGGCAAAGATTAAGTGAACATAGATGCCT... | pathogenic | 160,716 |
Clinically, how would you classify the variant at chromosome 10, position 54022930, gene PCDH15 (protocadherin related 15): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1F'] | AAAGTACTATAAGAAAACTGAGAAAATATAAGTAGTAATTATTTGTCACAGGGATCCTATAATACATTTCTAGAGATCACTCTACCATACTTCCTTTGATTTAACTAGGATTTGAGTAGTAGTTACGCACAAGGTGCTGTAGAGAGCACCAAAATGAATCCAGACACAATTACTGCCCTACAGGTTATGGTCTCAGAGAAGAAACAAGACACAAATACTAAAATAGAAAGGAAAAAAATGTGACATGCTATCTAAAAGATGTTCTAAATTGGGAACGATATCCTTTAGCTGAAAGGATGGGTTTTCATGGGAGTCTTGTA... | AAAGTACTATAAGAAAACTGAGAAAATATAAGTAGTAATTATTTGTCACAGGGATCCTATAATACATTTCTAGAGATCACTCTACCATACTTCCTTTGATTTAACTAGGATTTGAGTAGTAGTTACGCACAAGGTGCTGTAGAGAGCACCAAAATGAATCCAGACACAATTACTGCCCTACAGGTTATGGTCTCAGAGAAGAAACAAGACACAAATACTAAAATAGAAAGGAAAAAAATGTGACATGCTATCTAAAAGATGTTCTAAATTGGGAACGATATCCTTTAGCTGAAAGGATGGGTTTTCATGGGAGTCTTGTA... | pathogenic | 160,719 |
Clinical significance of chromosome 10, position 54022998, gene PCDH15 (protocadherin related 15): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Rare_genetic_deafness', 'Usher_syndrome_type_1F'] | TCTAGAGATCACTCTACCATACTTCCTTTGATTTAACTAGGATTTGAGTAGTAGTTACGCACAAGGTGCTGTAGAGAGCACCAAAATGAATCCAGACACAATTACTGCCCTACAGGTTATGGTCTCAGAGAAGAAACAAGACACAAATACTAAAATAGAAAGGAAAAAAATGTGACATGCTATCTAAAAGATGTTCTAAATTGGGAACGATATCCTTTAGCTGAAAGGATGGGTTTTCATGGGAGTCTTGTAGAATGGCTATTTCACTCAGCAGTACAGACTGGCAAATGCACCTCAGGTACAGAAAACCGAATGGAGCA... | TCTAGAGATCACTCTACCATACTTCCTTTGATTTAACTAGGATTTGAGTAGTAGTTACGCACAAGGTGCTGTAGAGAGCACCAAAATGAATCCAGACACAATTACTGCCCTACAGGTTATGGTCTCAGAGAAGAAACAAGACACAAATACTAAAATAGAAAGGAAAAAAATGTGACATGCTATCTAAAAGATGTTCTAAATTGGGAACGATATCCTTTAGCTGAAAGGATGGGTTTTCATGGGAGTCTTGTAGAATGGCTATTTCACTCAGCAGTACAGACTGGCAAATGCACCTCAGGTACAGAAAACCGAATGGAGCA... | pathogenic | 160,721 |
Mutation found at chromosome 10 position 54023070, gene PCDH15 (protocadherin related 15): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | AGAGAGCACCAAAATGAATCCAGACACAATTACTGCCCTACAGGTTATGGTCTCAGAGAAGAAACAAGACACAAATACTAAAATAGAAAGGAAAAAAATGTGACATGCTATCTAAAAGATGTTCTAAATTGGGAACGATATCCTTTAGCTGAAAGGATGGGTTTTCATGGGAGTCTTGTAGAATGGCTATTTCACTCAGCAGTACAGACTGGCAAATGCACCTCAGGTACAGAAAACCGAATGGAGCAAGAATGAAAATGGGGAAGATCCAGAGTATGCTATAATGTGCATTTTTAAATGCAAACACCTCCTATGGTGAA... | AGAGAGCACCAAAATGAATCCAGACACAATTACTGCCCTACAGGTTATGGTCTCAGAGAAGAAACAAGACACAAATACTAAAATAGAAAGGAAAAAAATGTGACATGCTATCTAAAAGATGTTCTAAATTGGGAACGATATCCTTTAGCTGAAAGGATGGGTTTTCATGGGAGTCTTGTAGAATGGCTATTTCACTCAGCAGTACAGACTGGCAAATGCACCTCAGGTACAGAAAACCGAATGGAGCAAGAATGAAAATGGGGAAGATCCAGAGTATGCTATAATGTGCATTTTTAAATGCAAACACCTCCTATGGTGAA... | pathogenic | 160,725 |
Mutation at chromosome 10, position 54023206, within PCDH15 (protocadherin related 15): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GATATCCTTTAGCTGAAAGGATGGGTTTTCATGGGAGTCTTGTAGAATGGCTATTTCACTCAGCAGTACAGACTGGCAAATGCACCTCAGGTACAGAAAACCGAATGGAGCAAGAATGAAAATGGGGAAGATCCAGAGTATGCTATAATGTGCATTTTTAAATGCAAACACCTCCTATGGTGAACCTCAGCCTTGGTCTCCTCCAATCAATTATTGACTTAACAATCAGAAAGATGCTATTAAAGCATACATTTTATTATGTGGTTTTTCCTGCTTAAAATCCCCTGGTTTTTAATTCAATTTTCAATCAACGCCATTAT... | GATATCCTTTAGCTGAAAGGATGGGTTTTCATGGGAGTCTTGTAGAATGGCTATTTCACTCAGCAGTACAGACTGGCAAATGCACCTCAGGTACAGAAAACCGAATGGAGCAAGAATGAAAATGGGGAAGATCCAGAGTATGCTATAATGTGCATTTTTAAATGCAAACACCTCCTATGGTGAACCTCAGCCTTGGTCTCCTCCAATCAATTATTGACTTAACAATCAGAAAGATGCTATTAAAGCATACATTTTATTATGTGGTTTTTCCTGCTTAAAATCCCCTGGTTTTTAATTCAATTTTCAATCAACGCCATTAT... | benign | 160,727 |
Is chromosome 10, position 54066869, gene PCDH15 (protocadherin related 15) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | GGAGCTTCCTGGATCCCTGAGAGCACAGAGATGCCTAGGTCTGCAGCCACAGCTGGGCAGCTGGAGCTACACCCAGGATGGCAGGGCTCCCACCCTGCCAACTTGGAAGGGGGTTAGGTTCCTGCCTGCTCCTTGCTCCCACCGGCTCCCTGGAGCATTTAGCCCAGGTCATACCTCCTCTGCTGTAGCTGGTGTCTTTGCAGTGGCTGCTCCAGATGGGCCACTGCTGCCATCAGTATCTACAGCCTGACTCAGTGCCCTTCTATCAGATTATGCTGAGGGAATTTGACTACTTGCTTCTACTGGAGGCAAGAAAATCC... | GGAGCTTCCTGGATCCCTGAGAGCACAGAGATGCCTAGGTCTGCAGCCACAGCTGGGCAGCTGGAGCTACACCCAGGATGGCAGGGCTCCCACCCTGCCAACTTGGAAGGGGGTTAGGTTCCTGCCTGCTCCTTGCTCCCACCGGCTCCCTGGAGCATTTAGCCCAGGTCATACCTCCTCTGCTGTAGCTGGTGTCTTTGCAGTGGCTGCTCCAGATGGGCCACTGCTGCCATCAGTATCTACAGCCTGACTCAGTGCCCTTCTATCAGATTATGCTGAGGGAATTTGACTACTTGCTTCTACTGGAGGCAAGAAAATCC... | pathogenic | 160,732 |
Mutation at chromosome 10, position 54079377, within PCDH15 (protocadherin related 15): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | AAGAACAAAACTACTGATTTTAGCCCAGAACTTATTTTGGTTTTAAGTAGTCAAAAGTATTATTAGTAGATTGTGACTATTTTCCTTCCATCTGTTTCCTTGTCTAAGAAACTTTAAGGACAGACTTAAAATGTTCTAGCTAATATTACTGCCATTAGTTTCTGATTTATAATGTGGCATATTTCAAAGCTATGTATTATCCTTTCTTTTTTTCCTATTTTATTGGTTGACCTGAATGCTTTCTTAATTTCACTTCACTGTAATTATACCTCTTAATCTATGCTAAATAATTTCTCCTTCTCCTCCTTAGAATATTTTCT... | AAGAACAAAACTACTGATTTTAGCCCAGAACTTATTTTGGTTTTAAGTAGTCAAAAGTATTATTAGTAGATTGTGACTATTTTCCTTCCATCTGTTTCCTTGTCTAAGAAACTTTAAGGACAGACTTAAAATGTTCTAGCTAATATTACTGCCATTAGTTTCTGATTTATAATGTGGCATATTTCAAAGCTATGTATTATCCTTTCTTTTTTTCCTATTTTATTGGTTGACCTGAATGCTTTCTTAATTTCACTTCACTGTAATTATACCTCTTAATCTATGCTAAATAATTTCTCCTTCTCCTCCTTAGAATATTTTCT... | pathogenic | 160,735 |
The mutation in gene PCDH15 (protocadherin related 15) at chromosome 10, position 54090002—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | GTGAAGCGCTGACTCCCCGCTTTGCCTTCAGTCATGACTTTTAAGTTTCCTGAGGCTTCCCCAGAAGCAGAGCAGGTGCCAGCATCATGCTTCCTGTATAGCCTGCAGAACCGTGAGGCAATTCAACCTCTTTTCATTACAAAATACTCAGTCTCAAGCACTTCTTTATAGCAGTGCAAAAACGAACTCACACATGCACATTTTACATGGCCACATAAATTTACGCAGATTTCAGTATCTCCACATTCTTAGTCATACCTGGTTTTGCCTTTCTTTATCACTACAGACACAAAGTATGTATGAAGTCAAATCTCTTTACA... | GTGAAGCGCTGACTCCCCGCTTTGCCTTCAGTCATGACTTTTAAGTTTCCTGAGGCTTCCCCAGAAGCAGAGCAGGTGCCAGCATCATGCTTCCTGTATAGCCTGCAGAACCGTGAGGCAATTCAACCTCTTTTCATTACAAAATACTCAGTCTCAAGCACTTCTTTATAGCAGTGCAAAAACGAACTCACACATGCACATTTTACATGGCCACATAAATTTACGCAGATTTCAGTATCTCCACATTCTTAGTCATACCTGGTTTTGCCTTTCTTTATCACTACAGACACAAAGTATGTATGAAGTCAAATCTCTTTACA... | pathogenic | 160,740 |
Variant chromosome 10, position 54132840, gene PCDH15 (protocadherin related 15): benign or pathogenic? Disease(s)? | benign | AAAGGATGAGGATGGAGGCAGCCAGGGTACCTCCAATGCATCTTGTTATTAGAAGACTTTTGAAGAGTAATTTGACGGGAGCTTTTCAACTTTTAGGTCACTAGTTTAAATGTAGTCTCAGTTGATCATGAACAAAAGTGGGTGGTTAGTGGCCTATGAAAAGTACCTTCATGGTATTACCCTTGTTCTTTCTAATAGAGACTGCCACTACAGTTGGCATCCTTTCTTTTCCTTCTACCAGAAGCACAAAGGGTGAATAGAAATGTCATTTCAAGTATTTTTTCAGCCTTTGTACCAGAGAAATTTGAAATATGAAAAAG... | AAAGGATGAGGATGGAGGCAGCCAGGGTACCTCCAATGCATCTTGTTATTAGAAGACTTTTGAAGAGTAATTTGACGGGAGCTTTTCAACTTTTAGGTCACTAGTTTAAATGTAGTCTCAGTTGATCATGAACAAAAGTGGGTGGTTAGTGGCCTATGAAAAGTACCTTCATGGTATTACCCTTGTTCTTTCTAATAGAGACTGCCACTACAGTTGGCATCCTTTCTTTTCCTTCTACCAGAAGCACAAAGGGTGAATAGAAATGTCATTTCAAGTATTTTTTCAGCCTTTGTACCAGAGAAATTTGAAATATGAAAAAG... | benign | 160,745 |
Clinical classification of chromosome 10, position 54132840, gene PCDH15 (protocadherin related 15): benign or pathogenic? Disease(s) if pathogenic? | benign | AAAGGATGAGGATGGAGGCAGCCAGGGTACCTCCAATGCATCTTGTTATTAGAAGACTTTTGAAGAGTAATTTGACGGGAGCTTTTCAACTTTTAGGTCACTAGTTTAAATGTAGTCTCAGTTGATCATGAACAAAAGTGGGTGGTTAGTGGCCTATGAAAAGTACCTTCATGGTATTACCCTTGTTCTTTCTAATAGAGACTGCCACTACAGTTGGCATCCTTTCTTTTCCTTCTACCAGAAGCACAAAGGGTGAATAGAAATGTCATTTCAAGTATTTTTTCAGCCTTTGTACCAGAGAAATTTGAAATATGAAAAAG... | AAAGGATGAGGATGGAGGCAGCCAGGGTACCTCCAATGCATCTTGTTATTAGAAGACTTTTGAAGAGTAATTTGACGGGAGCTTTTCAACTTTTAGGTCACTAGTTTAAATGTAGTCTCAGTTGATCATGAACAAAAGTGGGTGGTTAGTGGCCTATGAAAAGTACCTTCATGGTATTACCCTTGTTCTTTCTAATAGAGACTGCCACTACAGTTGGCATCCTTTCTTTTCCTTCTACCAGAAGCACAAAGGGTGAATAGAAATGTCATTTCAAGTATTTTTTCAGCCTTTGTACCAGAGAAATTTGAAATATGAAAAAG... | benign | 160,746 |
Clinical significance of chromosome 10, position 54132927, gene PCDH15 (protocadherin related 15): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1F'] | AACTTTTAGGTCACTAGTTTAAATGTAGTCTCAGTTGATCATGAACAAAAGTGGGTGGTTAGTGGCCTATGAAAAGTACCTTCATGGTATTACCCTTGTTCTTTCTAATAGAGACTGCCACTACAGTTGGCATCCTTTCTTTTCCTTCTACCAGAAGCACAAAGGGTGAATAGAAATGTCATTTCAAGTATTTTTTCAGCCTTTGTACCAGAGAAATTTGAAATATGAAAAAGGCCAACTTCTTTTCATCTTTAACTCACAGGTAGAATTATTGAACTATAATATGTTTCCTAGATCTTCCTGGATTTTATTAAAATGAA... | AACTTTTAGGTCACTAGTTTAAATGTAGTCTCAGTTGATCATGAACAAAAGTGGGTGGTTAGTGGCCTATGAAAAGTACCTTCATGGTATTACCCTTGTTCTTTCTAATAGAGACTGCCACTACAGTTGGCATCCTTTCTTTTCCTTCTACCAGAAGCACAAAGGGTGAATAGAAATGTCATTTCAAGTATTTTTTCAGCCTTTGTACCAGAGAAATTTGAAATATGAAAAAGGCCAACTTCTTTTCATCTTTAACTCACAGGTAGAATTATTGAACTATAATATGTTTCCTAGATCTTCCTGGATTTTATTAAAATGAA... | pathogenic | 160,750 |
Clinically, how would you classify the variant at chromosome 10, position 54132958, gene PCDH15 (protocadherin related 15): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1F'] | CAGTTGATCATGAACAAAAGTGGGTGGTTAGTGGCCTATGAAAAGTACCTTCATGGTATTACCCTTGTTCTTTCTAATAGAGACTGCCACTACAGTTGGCATCCTTTCTTTTCCTTCTACCAGAAGCACAAAGGGTGAATAGAAATGTCATTTCAAGTATTTTTTCAGCCTTTGTACCAGAGAAATTTGAAATATGAAAAAGGCCAACTTCTTTTCATCTTTAACTCACAGGTAGAATTATTGAACTATAATATGTTTCCTAGATCTTCCTGGATTTTATTAAAATGAAACCTGAGCCACTTTACAAGTAAAATTATGTC... | CAGTTGATCATGAACAAAAGTGGGTGGTTAGTGGCCTATGAAAAGTACCTTCATGGTATTACCCTTGTTCTTTCTAATAGAGACTGCCACTACAGTTGGCATCCTTTCTTTTCCTTCTACCAGAAGCACAAAGGGTGAATAGAAATGTCATTTCAAGTATTTTTTCAGCCTTTGTACCAGAGAAATTTGAAATATGAAAAAGGCCAACTTCTTTTCATCTTTAACTCACAGGTAGAATTATTGAACTATAATATGTTTCCTAGATCTTCCTGGATTTTATTAAAATGAAACCTGAGCCACTTTACAAGTAAAATTATGTC... | pathogenic | 160,752 |
Variant at chromosome 10, position 54153147, gene PCDH15 (protocadherin related 15): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | AAATAGAAATAGATGAGTATTTTTTTAACATATTAATAGTTTTTAAAACCATAGACCAATCTAATGGGGAAACACTGAGGCAGTCTCATTCAAGTCACAAACGAGACAAGCATTTTTATTGGAAGTATAATAGGAAATGAAAGTAAAGAAAGAAAATGGAGGCCAGGCGTCGTGGCTGATGCCAGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGAGGATCAGTAGAGGCCAAGAGCTTGAGACGAGCCTGGGCAACATAGCAAAATTCTGATTCTACAAATTTGTTTTTAATTAGCTAGGATTGGTGGCCTGAACCTG... | AAATAGAAATAGATGAGTATTTTTTTAACATATTAATAGTTTTTAAAACCATAGACCAATCTAATGGGGAAACACTGAGGCAGTCTCATTCAAGTCACAAACGAGACAAGCATTTTTATTGGAAGTATAATAGGAAATGAAAGTAAAGAAAGAAAATGGAGGCCAGGCGTCGTGGCTGATGCCAGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGAGGATCAGTAGAGGCCAAGAGCTTGAGACGAGCCTGGGCAACATAGCAAAATTCTGATTCTACAAATTTGTTTTTAATTAGCTAGGATTGGTGGCCTGAACCTG... | pathogenic | 160,760 |
A genetic variant on chromosome 10, position 54153253, affects the gene PCDH15 (protocadherin related 15). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23'] | CAAGCATTTTTATTGGAAGTATAATAGGAAATGAAAGTAAAGAAAGAAAATGGAGGCCAGGCGTCGTGGCTGATGCCAGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGAGGATCAGTAGAGGCCAAGAGCTTGAGACGAGCCTGGGCAACATAGCAAAATTCTGATTCTACAAATTTGTTTTTAATTAGCTAGGATTGGTGGCCTGAACCTGTAGTCCCCACTACTAGTGAGGCTGAGGTGGGCAGATTGCATGAGCCCAGAGTTTGAGGCTTCCATTAGCCGGGATTGTGCCGCTACACTCTAGACTGGGAGACAGA... | CAAGCATTTTTATTGGAAGTATAATAGGAAATGAAAGTAAAGAAAGAAAATGGAGGCCAGGCGTCGTGGCTGATGCCAGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGAGGATCAGTAGAGGCCAAGAGCTTGAGACGAGCCTGGGCAACATAGCAAAATTCTGATTCTACAAATTTGTTTTTAATTAGCTAGGATTGGTGGCCTGAACCTGTAGTCCCCACTACTAGTGAGGCTGAGGTGGGCAGATTGCATGAGCCCAGAGTTTGAGGCTTCCATTAGCCGGGATTGTGCCGCTACACTCTAGACTGGGAGACAGA... | pathogenic | 160,763 |
Clinically, how would you classify the variant at chromosome 10, position 54153256, gene PCDH15 (protocadherin related 15): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['PCDH15-related_disorder', 'Usher_syndrome_type_1F'] | GCATTTTTATTGGAAGTATAATAGGAAATGAAAGTAAAGAAAGAAAATGGAGGCCAGGCGTCGTGGCTGATGCCAGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGAGGATCAGTAGAGGCCAAGAGCTTGAGACGAGCCTGGGCAACATAGCAAAATTCTGATTCTACAAATTTGTTTTTAATTAGCTAGGATTGGTGGCCTGAACCTGTAGTCCCCACTACTAGTGAGGCTGAGGTGGGCAGATTGCATGAGCCCAGAGTTTGAGGCTTCCATTAGCCGGGATTGTGCCGCTACACTCTAGACTGGGAGACAGAGTT... | GCATTTTTATTGGAAGTATAATAGGAAATGAAAGTAAAGAAAGAAAATGGAGGCCAGGCGTCGTGGCTGATGCCAGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGAGGATCAGTAGAGGCCAAGAGCTTGAGACGAGCCTGGGCAACATAGCAAAATTCTGATTCTACAAATTTGTTTTTAATTAGCTAGGATTGGTGGCCTGAACCTGTAGTCCCCACTACTAGTGAGGCTGAGGTGGGCAGATTGCATGAGCCCAGAGTTTGAGGCTTCCATTAGCCGGGATTGTGCCGCTACACTCTAGACTGGGAGACAGAGTT... | pathogenic | 160,764 |
A mutation at chromosome position 54183422 on chromosome 10 in gene PCDH15 (protocadherin related 15): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ATTTATTTTATTTTATAATTTTAACTTTTATTTCAGATTCAGGGGGTACATACGCAAGTTTATTACCTGGGTATATTGCATGATGTTGAGGTTTGGGGTATGATTGATTCTGTCACCCAGATACTGAGTATAGTACACAATAGTTAATTTTTCAATTGTCTCTTCTCCCTCTCTCCCTCCATAGTAGTCCCCAGTGTCTTTTGTTGCCATCAGCAGCTACCGTATTAAACATCTACTATATGCCATGAACTATAGATACAGATGCCACAGATACAGAAATAAACTAGTTACAGTTTTGCCCTGAAATCAAATGCTTTAAA... | ATTTATTTTATTTTATAATTTTAACTTTTATTTCAGATTCAGGGGGTACATACGCAAGTTTATTACCTGGGTATATTGCATGATGTTGAGGTTTGGGGTATGATTGATTCTGTCACCCAGATACTGAGTATAGTACACAATAGTTAATTTTTCAATTGTCTCTTCTCCCTCTCTCCCTCCATAGTAGTCCCCAGTGTCTTTTGTTGCCATCAGCAGCTACCGTATTAAACATCTACTATATGCCATGAACTATAGATACAGATGCCACAGATACAGAAATAAACTAGTTACAGTTTTGCCCTGAAATCAAATGCTTTAAA... | benign | 160,767 |
Determine if the mutation at chromosome 10, position 54183504 in gene PCDH15 (protocadherin related 15) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Usher_syndrome_type_1F'] | ATGTTGAGGTTTGGGGTATGATTGATTCTGTCACCCAGATACTGAGTATAGTACACAATAGTTAATTTTTCAATTGTCTCTTCTCCCTCTCTCCCTCCATAGTAGTCCCCAGTGTCTTTTGTTGCCATCAGCAGCTACCGTATTAAACATCTACTATATGCCATGAACTATAGATACAGATGCCACAGATACAGAAATAAACTAGTTACAGTTTTGCCCTGAAATCAAATGCTTTAAAACACATTCATTTTATTAATGTGACAAGTACCATACCAATATATTAAAAAATTTACCATAGCAGTTTGAAACGTTTTTTCTCT... | ATGTTGAGGTTTGGGGTATGATTGATTCTGTCACCCAGATACTGAGTATAGTACACAATAGTTAATTTTTCAATTGTCTCTTCTCCCTCTCTCCCTCCATAGTAGTCCCCAGTGTCTTTTGTTGCCATCAGCAGCTACCGTATTAAACATCTACTATATGCCATGAACTATAGATACAGATGCCACAGATACAGAAATAAACTAGTTACAGTTTTGCCCTGAAATCAAATGCTTTAAAACACATTCATTTTATTAATGTGACAAGTACCATACCAATATATTAAAAAATTTACCATAGCAGTTTGAAACGTTTTTTCTCT... | pathogenic | 160,771 |
Considering the variant on chromosome 10, location 54183558, involving gene PCDH15 (protocadherin related 15), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23'] | ACAATAGTTAATTTTTCAATTGTCTCTTCTCCCTCTCTCCCTCCATAGTAGTCCCCAGTGTCTTTTGTTGCCATCAGCAGCTACCGTATTAAACATCTACTATATGCCATGAACTATAGATACAGATGCCACAGATACAGAAATAAACTAGTTACAGTTTTGCCCTGAAATCAAATGCTTTAAAACACATTCATTTTATTAATGTGACAAGTACCATACCAATATATTAAAAAATTTACCATAGCAGTTTGAAACGTTTTTTCTCTCTTTACCAAATACACAGCAGAAGCTATTTACACATAGAATAAACATTCCGGTGA... | ACAATAGTTAATTTTTCAATTGTCTCTTCTCCCTCTCTCCCTCCATAGTAGTCCCCAGTGTCTTTTGTTGCCATCAGCAGCTACCGTATTAAACATCTACTATATGCCATGAACTATAGATACAGATGCCACAGATACAGAAATAAACTAGTTACAGTTTTGCCCTGAAATCAAATGCTTTAAAACACATTCATTTTATTAATGTGACAAGTACCATACCAATATATTAAAAAATTTACCATAGCAGTTTGAAACGTTTTTTCTCTCTTTACCAAATACACAGCAGAAGCTATTTACACATAGAATAAACATTCCGGTGA... | pathogenic | 160,772 |
Benign or pathogenic: chromosome 10, position 54185172, gene PCDH15 (protocadherin related 15) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1F'] | GGCATGCGCCACCATACCCGGCTAATTTTGTATTTTTAGTAGAGACAGCGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACTTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCGGATATGCTTTTATTTGAAAAGTAACAGAAATTTAAAGCTATTTAAACTAATTATGCTATACAATAAGTGTGAAATCAATTTCTGTTTCTTAAGTAATTTCTTCATGAGCATATCGTATAATGCACATGTAAATAACAGCTTTGAGTGTACACTTATATTATGTGAGTAGTTAC... | GGCATGCGCCACCATACCCGGCTAATTTTGTATTTTTAGTAGAGACAGCGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACTTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCGGATATGCTTTTATTTGAAAAGTAACAGAAATTTAAAGCTATTTAAACTAATTATGCTATACAATAAGTGTGAAATCAATTTCTGTTTCTTAAGTAATTTCTTCATGAGCATATCGTATAATGCACATGTAAATAACAGCTTTGAGTGTACACTTATATTATGTGAGTAGTTAC... | pathogenic | 160,777 |
Gene PCDH15 (protocadherin related 15) variant at chromosome position 54185273 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCGGATATGCTTTTATTTGAAAAGTAACAGAAATTTAAAGCTATTTAAACTAATTATGCTATACAATAAGTGTGAAATCAATTTCTGTTTCTTAAGTAATTTCTTCATGAGCATATCGTATAATGCACATGTAAATAACAGCTTTGAGTGTACACTTATATTATGTGAGTAGTTACCTGTATGACACTGTCCCCAGGTCTCATGTCTGTATAAACATACACATCATAGGATATTTCAGGGAAGGTTGGCGTGTTATCATTTGCATCCATCACTTGAA... | CTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCGGATATGCTTTTATTTGAAAAGTAACAGAAATTTAAAGCTATTTAAACTAATTATGCTATACAATAAGTGTGAAATCAATTTCTGTTTCTTAAGTAATTTCTTCATGAGCATATCGTATAATGCACATGTAAATAACAGCTTTGAGTGTACACTTATATTATGTGAGTAGTTACCTGTATGACACTGTCCCCAGGTCTCATGTCTGTATAAACATACACATCATAGGATATTTCAGGGAAGGTTGGCGTGTTATCATTTGCATCCATCACTTGAA... | benign | 160,781 |
Does the genetic variant at chromosome 10, position 54195681, impacting gene PCDH15 (protocadherin related 15), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Usher_syndrome_type_1F'] | AACCCACTATACATCAGAGAATCCCTAAATTCTCTTGACTGGCATATGAAACTGTGTATAGATTAATGTGTTCACTTTTCTAGGAAAAGAACCTAGAGCATTCTTCAGCTATCATTATAGTCAGACTATGATCAAAGTATATAAAATATAGAGTGCTTAAAATTGAGAACTTTGTTTTCCATAAACCTTGGCTTAAGGTCCATTTCTACTGTTTACTAACACTGTGATCATGGTAAGGCATTTAAACTAGCTTTAATATCCCTTTCTGAAATAGGGATAATTGCATCTATCATGTTTGTTGTGAGATTTAAGGGAATTAA... | AACCCACTATACATCAGAGAATCCCTAAATTCTCTTGACTGGCATATGAAACTGTGTATAGATTAATGTGTTCACTTTTCTAGGAAAAGAACCTAGAGCATTCTTCAGCTATCATTATAGTCAGACTATGATCAAAGTATATAAAATATAGAGTGCTTAAAATTGAGAACTTTGTTTTCCATAAACCTTGGCTTAAGGTCCATTTCTACTGTTTACTAACACTGTGATCATGGTAAGGCATTTAAACTAGCTTTAATATCCCTTTCTGAAATAGGGATAATTGCATCTATCATGTTTGTTGTGAGATTTAAGGGAATTAA... | pathogenic | 160,783 |
The genetic variant at chromosome 10, position 54195820, affecting gene PCDH15 (protocadherin related 15): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Usher_syndrome'] | TATAAAATATAGAGTGCTTAAAATTGAGAACTTTGTTTTCCATAAACCTTGGCTTAAGGTCCATTTCTACTGTTTACTAACACTGTGATCATGGTAAGGCATTTAAACTAGCTTTAATATCCCTTTCTGAAATAGGGATAATTGCATCTATCATGTTTGTTGTGAGATTTAAGGGAATTAATGCAAGAAGAATTTACTGTATTGTTTGACATGTACTGAGAACTCAATGACAGATATTGTTAAAACTTGTGGTTTAAGAAGACACTAAATGTGAGAGACCAGGAAAGATTGAAAAAAAAAAAAAAGCTAGAATGGAAAAA... | TATAAAATATAGAGTGCTTAAAATTGAGAACTTTGTTTTCCATAAACCTTGGCTTAAGGTCCATTTCTACTGTTTACTAACACTGTGATCATGGTAAGGCATTTAAACTAGCTTTAATATCCCTTTCTGAAATAGGGATAATTGCATCTATCATGTTTGTTGTGAGATTTAAGGGAATTAATGCAAGAAGAATTTACTGTATTGTTTGACATGTACTGAGAACTCAATGACAGATATTGTTAAAACTTGTGGTTTAAGAAGACACTAAATGTGAGAGACCAGGAAAGATTGAAAAAAAAAAAAAAGCTAGAATGGAAAAA... | pathogenic | 160,789 |
Variant chromosome 10, position 54213945, gene PCDH15 (protocadherin related 15): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | ATTATGCCCTTGACTTCACACAAAACATAGTAATTTGAATCTAATATTGTCTGTTAAAACTTCCATTAATAAAAGAAAGTGCTATTAAAACAAAAAAAAAATCTGTGGCCTATTGTAATTGATTTTTTTTCTGTAATTGATGGACTGAGTTACACTGTACCCAGGTACACCAGGACAGCTGAATTCGATAATAAAGGAAAATAATTGATTTTTGGTTTCACATGTGACAGTTTGGAAACAGTGCTTTGTCAAATTTCTTAATTCCCATAGAAAGCAGCACCACAAGAGTCAGGTAGATCCACAATAGAAAATCAGTACAC... | ATTATGCCCTTGACTTCACACAAAACATAGTAATTTGAATCTAATATTGTCTGTTAAAACTTCCATTAATAAAAGAAAGTGCTATTAAAACAAAAAAAAAATCTGTGGCCTATTGTAATTGATTTTTTTTCTGTAATTGATGGACTGAGTTACACTGTACCCAGGTACACCAGGACAGCTGAATTCGATAATAAAGGAAAATAATTGATTTTTGGTTTCACATGTGACAGTTTGGAAACAGTGCTTTGTCAAATTTCTTAATTCCCATAGAAAGCAGCACCACAAGAGTCAGGTAGATCCACAATAGAAAATCAGTACAC... | pathogenic | 160,791 |
A genetic variant at chromosome 10, position 54236906, affecting gene PCDH15 (protocadherin related 15)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Usher_syndrome_type_1F'] | AAATTTTTTAATTGGCTCCTCATTTCACTCAGAGAAAAATACAAAGTAGATAAATAACATACAAGGCTCTCTAGTTTCTGCTCTGTTCTTATCTGTCACCTTTCTACTTTTACCTCACTCACTTCTTTCCAGTACTTCCGGCCCCCTTGTTGTTTCTGAAACCCACCTGGCAAGCTTCAGTTTTGATCTCTGCCTAGAACTCTTCCCGGAGATATCAACGAGAATAACTTCCTCAGCTTCTGTAAGCCTTTGCTAACAGCTTACCTTTTGATGACACAAGTGCTGATGATACTGCTTAACACTGCAACTTCTACTACAAT... | AAATTTTTTAATTGGCTCCTCATTTCACTCAGAGAAAAATACAAAGTAGATAAATAACATACAAGGCTCTCTAGTTTCTGCTCTGTTCTTATCTGTCACCTTTCTACTTTTACCTCACTCACTTCTTTCCAGTACTTCCGGCCCCCTTGTTGTTTCTGAAACCCACCTGGCAAGCTTCAGTTTTGATCTCTGCCTAGAACTCTTCCCGGAGATATCAACGAGAATAACTTCCTCAGCTTCTGTAAGCCTTTGCTAACAGCTTACCTTTTGATGACACAAGTGCTGATGATACTGCTTAACACTGCAACTTCTACTACAAT... | pathogenic | 160,797 |
Clinical classification of chromosome 10, position 54317429, gene PCDH15 (protocadherin related 15): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | TTTATTTAATTCTTGTAATTTTAAATTCCTCATAGATGCTGGATATTAGACCTCTGTCAGATGCATAGTTTGCAAATATTTTCTCCCGTTCTGTAGGTGGTCTGTTCACTCTGTTGATAGTTTATTAAGCTGTGCAGAAGCTCTTAAGTTTAATTAGATCCCATTTGTCAATGTTTGCTTTTGTTGCAATTGCTGTTGGTTCTTTGTTACAAAATCTTTGCCTGTGCCTTTGTCCTGAATAGTATTGCCTAGGTGGTCCTCCAGGGTTTTTCTAGTTTGGAGTTTTACATTTAAGTCTTTAATCCATCTTGAGTTGATTT... | TTTATTTAATTCTTGTAATTTTAAATTCCTCATAGATGCTGGATATTAGACCTCTGTCAGATGCATAGTTTGCAAATATTTTCTCCCGTTCTGTAGGTGGTCTGTTCACTCTGTTGATAGTTTATTAAGCTGTGCAGAAGCTCTTAAGTTTAATTAGATCCCATTTGTCAATGTTTGCTTTTGTTGCAATTGCTGTTGGTTCTTTGTTACAAAATCTTTGCCTGTGCCTTTGTCCTGAATAGTATTGCCTAGGTGGTCCTCCAGGGTTTTTCTAGTTTGGAGTTTTACATTTAAGTCTTTAATCCATCTTGAGTTGATTT... | pathogenic | 160,804 |
Does the chromosome 10 mutation at position 54346397 within gene PCDH15 (protocadherin related 15) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | AGCAAACCTACACTTCCCTGGAATGGGGAGGCATTGAGACAGAATTATTGCACAGTTAAAAAAGAATTTAAGCCTTATTAACTGTCTACATTTTAAGCAGAAAGATAGTTTAAAGTAATATATTTTTGCTCTCAAACTATATCTAAACATTGAATATTTTTATGCATGCAATAAATATCTCCCTAAAAAACATGGACTAGTCATTTGATACTTGCTGGGAGGTTTTATTTTTACACCTTGGGGAGTAAAGATTAGAAAGTAACCTTCATAAAATTTGAGCTAGAAACATGGCGCACACGTACAATTAATTCTTTAAAAAA... | AGCAAACCTACACTTCCCTGGAATGGGGAGGCATTGAGACAGAATTATTGCACAGTTAAAAAAGAATTTAAGCCTTATTAACTGTCTACATTTTAAGCAGAAAGATAGTTTAAAGTAATATATTTTTGCTCTCAAACTATATCTAAACATTGAATATTTTTATGCATGCAATAAATATCTCCCTAAAAAACATGGACTAGTCATTTGATACTTGCTGGGAGGTTTTATTTTTACACCTTGGGGAGTAAAGATTAGAAAGTAACCTTCATAAAATTTGAGCTAGAAACATGGCGCACACGTACAATTAATTCTTTAAAAAA... | pathogenic | 160,815 |
Clinical impact (benign or pathogenic) of the variant at chromosome 10, location 54369163, gene PCDH15 (protocadherin related 15): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | TCTAGGCAAAATGAACAGTGTGAGCAAAGGCTAAGAAAGGGAGATATTTATGAGATGTGAGAGAGTTAATCTGAACAGGATAAGGCATTATCAGGGAGAATTTGAGAATGTTCAGAATACATTGACAAATGGTCAGATTATGGAAAAGCTTGAAGGTCTGCCAGAAGAAGTGACCTTTTGACACCCGACAATAATGAGAAATTGCAAAACTTTTGAAAAGTAGAGTTGCATGATTAAAATGATATTTGAGAAGTTACTGTTTAACAAGACACTGAAAAGATTAGAGAGGGAAGTGGAAACAGTCAAATCACATAGGATGC... | TCTAGGCAAAATGAACAGTGTGAGCAAAGGCTAAGAAAGGGAGATATTTATGAGATGTGAGAGAGTTAATCTGAACAGGATAAGGCATTATCAGGGAGAATTTGAGAATGTTCAGAATACATTGACAAATGGTCAGATTATGGAAAAGCTTGAAGGTCTGCCAGAAGAAGTGACCTTTTGACACCCGACAATAATGAGAAATTGCAAAACTTTTGAAAAGTAGAGTTGCATGATTAAAATGATATTTGAGAAGTTACTGTTTAACAAGACACTGAAAAGATTAGAGAGGGAAGTGGAAACAGTCAAATCACATAGGATGC... | pathogenic | 160,822 |
Located at chromosome 10 position 54369227, the variant affecting gene PCDH15 (protocadherin related 15)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23'] | GTTAATCTGAACAGGATAAGGCATTATCAGGGAGAATTTGAGAATGTTCAGAATACATTGACAAATGGTCAGATTATGGAAAAGCTTGAAGGTCTGCCAGAAGAAGTGACCTTTTGACACCCGACAATAATGAGAAATTGCAAAACTTTTGAAAAGTAGAGTTGCATGATTAAAATGATATTTGAGAAGTTACTGTTTAACAAGACACTGAAAAGATTAGAGAGGGAAGTGGAAACAGTCAAATCACATAGGATGCTTTGAACTTCAAATTGAACATTATAAATTTCTGAAAGAAGGATGAACTATGAAGAGGGATCCAG... | GTTAATCTGAACAGGATAAGGCATTATCAGGGAGAATTTGAGAATGTTCAGAATACATTGACAAATGGTCAGATTATGGAAAAGCTTGAAGGTCTGCCAGAAGAAGTGACCTTTTGACACCCGACAATAATGAGAAATTGCAAAACTTTTGAAAAGTAGAGTTGCATGATTAAAATGATATTTGAGAAGTTACTGTTTAACAAGACACTGAAAAGATTAGAGAGGGAAGTGGAAACAGTCAAATCACATAGGATGCTTTGAACTTCAAATTGAACATTATAAATTTCTGAAAGAAGGATGAACTATGAAGAGGGATCCAG... | pathogenic | 160,827 |
Clinical impact (benign or pathogenic) of the variant at chromosome 10, location 54369234, gene PCDH15 (protocadherin related 15): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | TGAACAGGATAAGGCATTATCAGGGAGAATTTGAGAATGTTCAGAATACATTGACAAATGGTCAGATTATGGAAAAGCTTGAAGGTCTGCCAGAAGAAGTGACCTTTTGACACCCGACAATAATGAGAAATTGCAAAACTTTTGAAAAGTAGAGTTGCATGATTAAAATGATATTTGAGAAGTTACTGTTTAACAAGACACTGAAAAGATTAGAGAGGGAAGTGGAAACAGTCAAATCACATAGGATGCTTTGAACTTCAAATTGAACATTATAAATTTCTGAAAGAAGGATGAACTATGAAGAGGGATCCAGGGGCAGT... | TGAACAGGATAAGGCATTATCAGGGAGAATTTGAGAATGTTCAGAATACATTGACAAATGGTCAGATTATGGAAAAGCTTGAAGGTCTGCCAGAAGAAGTGACCTTTTGACACCCGACAATAATGAGAAATTGCAAAACTTTTGAAAAGTAGAGTTGCATGATTAAAATGATATTTGAGAAGTTACTGTTTAACAAGACACTGAAAAGATTAGAGAGGGAAGTGGAAACAGTCAAATCACATAGGATGCTTTGAACTTCAAATTGAACATTATAAATTTCTGAAAGAAGGATGAACTATGAAGAGGGATCCAGGGGCAGT... | pathogenic | 160,828 |
A genetic alteration at chromosome 10, position 54378800, in gene PCDH15 (protocadherin related 15)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | GGTATGGAAGCATATAGGGACAATATATCGAGAGGACCATTTAGTAAAATGGATAAAACTCCCTAGTCCAGTAATATAATGATGGTAAATGAATTTATCTCTATAAAACAACTAAACAATTGTAGAAAGATGCATGTACAAAAATTTTCACTGCAGCATTTTTGTAATTCTTAAAAACTGCAAACAAACTTGACTTCCAAAATAGGAGATTCATTTTTTAAAAATCTCTTATTTATTCATGCAATAACCAATCATGCAGCTAATAAAAATAATTATATAAATATACATTTGTTTGCATTATAATTTTACATGTATTATAA... | GGTATGGAAGCATATAGGGACAATATATCGAGAGGACCATTTAGTAAAATGGATAAAACTCCCTAGTCCAGTAATATAATGATGGTAAATGAATTTATCTCTATAAAACAACTAAACAATTGTAGAAAGATGCATGTACAAAAATTTTCACTGCAGCATTTTTGTAATTCTTAAAAACTGCAAACAAACTTGACTTCCAAAATAGGAGATTCATTTTTTAAAAATCTCTTATTTATTCATGCAATAACCAATCATGCAGCTAATAAAAATAATTATATAAATATACATTTGTTTGCATTATAATTTTACATGTATTATAA... | pathogenic | 160,831 |
Is the genetic change at chromosome 10, position 54527829, within gene PCDH15 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Usher_syndrome_type_1F'] | AGTTTTGATTGCCTAAAGAAAAATATAAAAACATTTGCATGGATTGTTTCCCTTAGATTTTTAAGACAAAAATGATTAAAGCACTACATTATAATATCTGGCAGAGGTTCATTTGATCACCATATTTTTAGAAATTTAATGCAAAAGAGAAATGCAAAACATTTACTCTCTAGATCAGTATTTATACTTCTTGTGATGACTTAAATAACTCTGGCAGCTTTCTGAGTAGTTGGCAGTTTCTACAAAATATGCCAAGTAAGGAGCACAACATTAGTATACTATATCATGTCATTTTCTTCTAAAACACAAATATTGAACTT... | AGTTTTGATTGCCTAAAGAAAAATATAAAAACATTTGCATGGATTGTTTCCCTTAGATTTTTAAGACAAAAATGATTAAAGCACTACATTATAATATCTGGCAGAGGTTCATTTGATCACCATATTTTTAGAAATTTAATGCAAAAGAGAAATGCAAAACATTTACTCTCTAGATCAGTATTTATACTTCTTGTGATGACTTAAATAACTCTGGCAGCTTTCTGAGTAGTTGGCAGTTTCTACAAAATATGCCAAGTAAGGAGCACAACATTAGTATACTATATCATGTCATTTTCTTCTAAAACACAAATATTGAACTT... | pathogenic | 160,839 |
The genetic variant at chromosome 10, position 54527894, affecting gene PCDH15: benign or pathogenic? Disease name(s) if pathogenic? | benign | ACAAAAATGATTAAAGCACTACATTATAATATCTGGCAGAGGTTCATTTGATCACCATATTTTTAGAAATTTAATGCAAAAGAGAAATGCAAAACATTTACTCTCTAGATCAGTATTTATACTTCTTGTGATGACTTAAATAACTCTGGCAGCTTTCTGAGTAGTTGGCAGTTTCTACAAAATATGCCAAGTAAGGAGCACAACATTAGTATACTATATCATGTCATTTTCTTCTAAAACACAAATATTGAACTTTTACCACCTGCTACTGTACAGCAGTGCTATGGCAACATCTTCGTAGAGTTCCTAAGCTCCTTTGA... | ACAAAAATGATTAAAGCACTACATTATAATATCTGGCAGAGGTTCATTTGATCACCATATTTTTAGAAATTTAATGCAAAAGAGAAATGCAAAACATTTACTCTCTAGATCAGTATTTATACTTCTTGTGATGACTTAAATAACTCTGGCAGCTTTCTGAGTAGTTGGCAGTTTCTACAAAATATGCCAAGTAAGGAGCACAACATTAGTATACTATATCATGTCATTTTCTTCTAAAACACAAATATTGAACTTTTACCACCTGCTACTGTACAGCAGTGCTATGGCAACATCTTCGTAGAGTTCCTAAGCTCCTTTGA... | benign | 160,842 |
The mutation impacting PCDH15 (protocadherin related 15) on chromosome 10 at position 54664201: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1F'] | ATCTGACAAAAGATTTATGTCCGAAATCTATAAGAAAAACAAATCAACAAGAACAAAACATATAACTCCATTAATAAGTGAGGAAAGAATGTAAACAGACACTTCCCAAAAGAAGAAATGGAAGTGACCAACAAACATATGAAAAAACATTCAACCTCACTAATCATTAGAGAAATGCAAGTTACAACAAAAATGAGACACCATTTCATCCCAGTCCATTTGTACTTTTTATTATCATATATATCCTCAAATTCAAAACAAAATAAACCACAACATAAACTGTGTTAGTATAGTACATTAAAGTCAGCTCCACTGTGCTG... | ATCTGACAAAAGATTTATGTCCGAAATCTATAAGAAAAACAAATCAACAAGAACAAAACATATAACTCCATTAATAAGTGAGGAAAGAATGTAAACAGACACTTCCCAAAAGAAGAAATGGAAGTGACCAACAAACATATGAAAAAACATTCAACCTCACTAATCATTAGAGAAATGCAAGTTACAACAAAAATGAGACACCATTTCATCCCAGTCCATTTGTACTTTTTATTATCATATATATCCTCAAATTCAAAACAAAATAAACCACAACATAAACTGTGTTAGTATAGTACATTAAAGTCAGCTCCACTGTGCTG... | pathogenic | 160,849 |
Does the variant impacting PCDH15 (protocadherin related 15) on chromosome 10, position 54664246, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Rare_genetic_deafness', 'USHER_SYNDROME,_TYPE_ID/F,_DIGENIC', 'Usher_syndrome_type_1', 'Usher_syndrome_type_1F'] | AACAAGAACAAAACATATAACTCCATTAATAAGTGAGGAAAGAATGTAAACAGACACTTCCCAAAAGAAGAAATGGAAGTGACCAACAAACATATGAAAAAACATTCAACCTCACTAATCATTAGAGAAATGCAAGTTACAACAAAAATGAGACACCATTTCATCCCAGTCCATTTGTACTTTTTATTATCATATATATCCTCAAATTCAAAACAAAATAAACCACAACATAAACTGTGTTAGTATAGTACATTAAAGTCAGCTCCACTGTGCTGTATCACTTGGCAAGTCTGAAATTCCAATGGGCTTCAGAAAGTTGA... | AACAAGAACAAAACATATAACTCCATTAATAAGTGAGGAAAGAATGTAAACAGACACTTCCCAAAAGAAGAAATGGAAGTGACCAACAAACATATGAAAAAACATTCAACCTCACTAATCATTAGAGAAATGCAAGTTACAACAAAAATGAGACACCATTTCATCCCAGTCCATTTGTACTTTTTATTATCATATATATCCTCAAATTCAAAACAAAATAAACCACAACATAAACTGTGTTAGTATAGTACATTAAAGTCAGCTCCACTGTGCTGTATCACTTGGCAAGTCTGAAATTCCAATGGGCTTCAGAAAGTTGA... | pathogenic | 160,851 |
Variant at chromosome position 60080600, chromosome 10, gene ANK3 (ankyrin 3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic | ACCACGTCTATGGTTTTATACTTCGCAAGGAACAACCAACCTACCAATCAGTTACACATTTTATGCTTTAATGACATATATTTTGGGATCCCTTTATAAGAGGGAATTTCTGGATGTCAGGCACCGAACTAATCCAGAATCTTTTTCCTGGGGGGAAGGGGTTGGAAAGGCAGCGTGGTGAAGGAAAAGTGGCATTCACTTGGAGTTCCCATAACACCAGTTTTGAGACTTACTTTTCTTTTAGTCACTTCCTATTCCTATTCATTCCCTTGTTTACCACCCTTATGTACCCTTTCATAAAACAGAAAACTTCGCTCCTC... | ACCACGTCTATGGTTTTATACTTCGCAAGGAACAACCAACCTACCAATCAGTTACACATTTTATGCTTTAATGACATATATTTTGGGATCCCTTTATAAGAGGGAATTTCTGGATGTCAGGCACCGAACTAATCCAGAATCTTTTTCCTGGGGGGAAGGGGTTGGAAAGGCAGCGTGGTGAAGGAAAAGTGGCATTCACTTGGAGTTCCCATAACACCAGTTTTGAGACTTACTTTTCTTTTAGTCACTTCCTATTCCTATTCATTCCCTTGTTTACCACCCTTATGTACCCTTTCATAAAACAGAAAACTTCGCTCCTC... | pathogenic | 160,978 |
A genetic variant on chromosome 10, position 60080627, affects the gene ANK3 (ankyrin 3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AGGAACAACCAACCTACCAATCAGTTACACATTTTATGCTTTAATGACATATATTTTGGGATCCCTTTATAAGAGGGAATTTCTGGATGTCAGGCACCGAACTAATCCAGAATCTTTTTCCTGGGGGGAAGGGGTTGGAAAGGCAGCGTGGTGAAGGAAAAGTGGCATTCACTTGGAGTTCCCATAACACCAGTTTTGAGACTTACTTTTCTTTTAGTCACTTCCTATTCCTATTCATTCCCTTGTTTACCACCCTTATGTACCCTTTCATAAAACAGAAAACTTCGCTCCTCTTCTACCAAAAGTCCAGGAACACAAGC... | AGGAACAACCAACCTACCAATCAGTTACACATTTTATGCTTTAATGACATATATTTTGGGATCCCTTTATAAGAGGGAATTTCTGGATGTCAGGCACCGAACTAATCCAGAATCTTTTTCCTGGGGGGAAGGGGTTGGAAAGGCAGCGTGGTGAAGGAAAAGTGGCATTCACTTGGAGTTCCCATAACACCAGTTTTGAGACTTACTTTTCTTTTAGTCACTTCCTATTCCTATTCATTCCCTTGTTTACCACCCTTATGTACCCTTTCATAAAACAGAAAACTTCGCTCCTCTTCTACCAAAAGTCCAGGAACACAAGC... | benign | 160,979 |
A genetic variant on chromosome 10, position 60166584, affects the gene ANK3 (ankyrin 3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ATATCTGAAAGATTGTCACACAGAAAAGGCAGCTTTTGTTCAAAATACTACATAGAATGTAGTCTTCCCATCAACTTGGTCAAATACACCAAAGCTTGAATCAATGAGTAGATGCTACAGGAAGTTCAATAACATGAAGGATTTTTAAAGACAGAATTGTCCAAATGGACTATGCAGCTTAGGAATTAAAGAATTCTCATTATTTGAAGGGCTTGGGCACAGGAGATCCTAAGCAGATGAGATTCCAGCAGATGTTTGCTCAGACTGAGTGACCTTTAAGGAATCCTTTTCAACATTAAATTCGGCAATACCACAAAATT... | ATATCTGAAAGATTGTCACACAGAAAAGGCAGCTTTTGTTCAAAATACTACATAGAATGTAGTCTTCCCATCAACTTGGTCAAATACACCAAAGCTTGAATCAATGAGTAGATGCTACAGGAAGTTCAATAACATGAAGGATTTTTAAAGACAGAATTGTCCAAATGGACTATGCAGCTTAGGAATTAAAGAATTCTCATTATTTGAAGGGCTTGGGCACAGGAGATCCTAAGCAGATGAGATTCCAGCAGATGTTTGCTCAGACTGAGTGACCTTTAAGGAATCCTTTTCAACATTAAATTCGGCAATACCACAAAATT... | benign | 160,994 |
Clinical significance of chromosome 10, position 60196628, gene ANK3 (ankyrin 3): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AATTTCCTTCCTTTTAAAGACTAAATAATATTCCTTTGTGTGTATATGCACAGTGAGTATATGCATTCATCCATCAATGAATATTTGCATTGTTTCCACCTTTTGGCTGTCATGAATAATGCTGCTGTCTTTTTTTAAATTAAAGTTTTATCAAGTCACATTGTGGTTTTGTAATAGAAAGAATGTTTGTCAGGGTCAGAAACTGTGGAGGGGAAAGCTACATTTAGATTAAAAGCAAGTTTGGGAGTTTGATTTTGAATTTTAGATTTCACTGGGTATAATTCTGGAGAGGATGGGGCAGAAAATGATCGAAAGTTTCC... | AATTTCCTTCCTTTTAAAGACTAAATAATATTCCTTTGTGTGTATATGCACAGTGAGTATATGCATTCATCCATCAATGAATATTTGCATTGTTTCCACCTTTTGGCTGTCATGAATAATGCTGCTGTCTTTTTTTAAATTAAAGTTTTATCAAGTCACATTGTGGTTTTGTAATAGAAAGAATGTTTGTCAGGGTCAGAAACTGTGGAGGGGAAAGCTACATTTAGATTAAAAGCAAGTTTGGGAGTTTGATTTTGAATTTTAGATTTCACTGGGTATAATTCTGGAGAGGATGGGGCAGAAAATGATCGAAAGTTTCC... | benign | 161,010 |
Variant chromosome 10, position 67805671, gene DNAJC12 (DnaJ heat shock protein family (Hsp40) member C12): benign or pathogenic? Disease(s)? | pathogenic; ['Hyperphenylalaninemia_due_to_DNAJC12_deficiency'] | AGTGTCTCCCACCCACACTACACCTAATTTTGGTGTGCACAGACTTGGTCTGAATCTGACAGAAACAGAAAGACTTGGGGAACCCCCAGGGGTTCAAGAAACACAGAACTGAACATTCATCGTGTTTACATGTAGGGGAGTGATTGTACTCCTGTGTTTGCTTAAAACACTGTTTTTCTACACTTCAGGCTTCTCCTTTGATCAGTTTGTTAAATTATAACCATTTCCAGTTACTGGGTGATGCAATCAATGTGCAGACTCCACAGCCATCTCTTGGGTAACCAACAGAGACATCTGAATCAAACTCTATGGATCTTCAT... | AGTGTCTCCCACCCACACTACACCTAATTTTGGTGTGCACAGACTTGGTCTGAATCTGACAGAAACAGAAAGACTTGGGGAACCCCCAGGGGTTCAAGAAACACAGAACTGAACATTCATCGTGTTTACATGTAGGGGAGTGATTGTACTCCTGTGTTTGCTTAAAACACTGTTTTTCTACACTTCAGGCTTCTCCTTTGATCAGTTTGTTAAATTATAACCATTTCCAGTTACTGGGTGATGCAATCAATGTGCAGACTCCACAGCCATCTCTTGGGTAACCAACAGAGACATCTGAATCAAACTCTATGGATCTTCAT... | pathogenic | 161,282 |
Is the genetic variant on chromosome 10, position 67823385, gene DNAJC12 (DnaJ heat shock protein family (Hsp40) member C12), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hyperphenylalaninemia_due_to_DNAJC12_deficiency'] | AGAAACCCTGTCTCTACTAAAAATACAAAATTAACTGGGCATGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAATATCGTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCTGTCTCAAAAAAAAACATTAAGATATAATATTATCTACCCTGAGGATAAAATCAGAGTAGGAAAACACAAGAGATTTCAATTGCACTGGTAAAGTTTTAAGCTGGGCGGAACATATGTGGGCATCTGTTAGAGTATTTTTTATTCC... | AGAAACCCTGTCTCTACTAAAAATACAAAATTAACTGGGCATGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAATATCGTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCTGTCTCAAAAAAAAACATTAAGATATAATATTATCTACCCTGAGGATAAAATCAGAGTAGGAAAACACAAGAGATTTCAATTGCACTGGTAAAGTTTTAAGCTGGGCGGAACATATGTGGGCATCTGTTAGAGTATTTTTTATTCC... | pathogenic | 161,291 |
Determine whether the variant at chromosome 10, position 68166409, in gene MYPN (myopalladin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['MYPN-related_myopathy'] | ATTTATTAGGGCAGAGGCATCATGACCTAAACACCTCCCTTTAGGCTCCACATCCCAGCACTGAAGCATTGGGGATTGTTTCCAGCACATGAGCATTGGGGGACATGTTCAAATAGCAATACTCAATACTACCTGCCATGCCCCACTGGCCAGATTTCCTAGAAACAGTCTAGTTAATTCAATTCAATTATCATGAAGCACTGAGATGCCTGCCAAGTTTCTCCTAATGCAACTATTTTTTAATAATTTTGTTTTTAATGTCAGTTCAATGGAGTGATAACTGGAGGTTTATGCTGCTGTCTTATACCTCCTCTTTATTA... | ATTTATTAGGGCAGAGGCATCATGACCTAAACACCTCCCTTTAGGCTCCACATCCCAGCACTGAAGCATTGGGGATTGTTTCCAGCACATGAGCATTGGGGGACATGTTCAAATAGCAATACTCAATACTACCTGCCATGCCCCACTGGCCAGATTTCCTAGAAACAGTCTAGTTAATTCAATTCAATTATCATGAAGCACTGAGATGCCTGCCAAGTTTCTCCTAATGCAACTATTTTTTAATAATTTTGTTTTTAATGTCAGTTCAATGGAGTGATAACTGGAGGTTTATGCTGCTGTCTTATACCTCCTCTTTATTA... | pathogenic | 161,405 |
The mutation in gene MYPN (myopalladin) at chromosome 10, position 68175478—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TCTTTGTTGCACAACTCCAAGGTCGCAATACAAAGAATACAGTGTGAAGGACGCCCTTGGAAAGAAGGAAAGACAAACTCACCAATTATTGATCAGCTGATTTCTTGCCACTCTGGTTGTGTGTTCTTTATCAACATCAAGTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTGAGATGAGTCTCACTCTGTCACTGAAGCTGGAGTGAGGTGGCAAGATCAGGACTCACTGCAATCTCCGCCTCCAGGCTCAAGCCTGGGATCTCAAGTGATCTTCCTGGGATCCTCCTGGGATCACTAAA... | TCTTTGTTGCACAACTCCAAGGTCGCAATACAAAGAATACAGTGTGAAGGACGCCCTTGGAAAGAAGGAAAGACAAACTCACCAATTATTGATCAGCTGATTTCTTGCCACTCTGGTTGTGTGTTCTTTATCAACATCAAGTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTGAGATGAGTCTCACTCTGTCACTGAAGCTGGAGTGAGGTGGCAAGATCAGGACTCACTGCAATCTCCGCCTCCAGGCTCAAGCCTGGGATCTCAAGTGATCTTCCTGGGATCCTCCTGGGATCACTAAA... | benign | 161,466 |
A genetic variant at chromosome 10, position 68194514, affecting gene MYPN—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TTGTTGCTGTTGTTGTTGGGTCTTTGACTGGTTTGAGTATCAGGATAATGCTGGTCTTGTAGAATGAGTTTGGAAGTATTATCTCCTCTTTAACTTTTTGAAATAGTTTGAGTAGAATTGATATTAGTTCTTCTTTAAATGTTTGGTAGAATTCAACAGTGAATCCATTAGGCCCTGGGCTTTTCTTGGATGGGAGACTTTTTCGTTACTGCTTCAATCTCATCACTCATTATTGGTCTGGTCTGCTAGTTTTCTATTTCTTTGTAGTTTAGTCTTGGTAGGTTGTATGTGTCCAGGAATTTGCCAATTTCTTCCAGGTT... | TTGTTGCTGTTGTTGTTGGGTCTTTGACTGGTTTGAGTATCAGGATAATGCTGGTCTTGTAGAATGAGTTTGGAAGTATTATCTCCTCTTTAACTTTTTGAAATAGTTTGAGTAGAATTGATATTAGTTCTTCTTTAAATGTTTGGTAGAATTCAACAGTGAATCCATTAGGCCCTGGGCTTTTCTTGGATGGGAGACTTTTTCGTTACTGCTTCAATCTCATCACTCATTATTGGTCTGGTCTGCTAGTTTTCTATTTCTTTGTAGTTTAGTCTTGGTAGGTTGTATGTGTCCAGGAATTTGCCAATTTCTTCCAGGTT... | benign | 161,492 |
Clinical significance of chromosome 10, position 68195500, gene MYPN (myopalladin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Dilated_cardiomyopathy_1KK'] | ATCTATTTAATATCCACAGGGTACCTGTTCTTGTACAAAGTGAACTGTATTAGGTTGGTAAATGCTGAAAATGTCATATCGTTATCACTGGATGCTGAAAAATCACATCAGTCAGCAGATTTTTTGGCAGTCAGCTGAGAGAAGGATTTACACCCAGCATGTTTGTGGCAGAGGATCTCTCTGCTCTACTTTCATAAACATTAGCATAGTGTTATCATGTATGGTTAGGTAACCAGGAAAAGTAGAGGAGGACAGCTGTAACCAGCACTTTATCTCCTCTGTCTTTGAGAGATCTCCTTCACACATGCAAAACTTAACAG... | ATCTATTTAATATCCACAGGGTACCTGTTCTTGTACAAAGTGAACTGTATTAGGTTGGTAAATGCTGAAAATGTCATATCGTTATCACTGGATGCTGAAAAATCACATCAGTCAGCAGATTTTTTGGCAGTCAGCTGAGAGAAGGATTTACACCCAGCATGTTTGTGGCAGAGGATCTCTCTGCTCTACTTTCATAAACATTAGCATAGTGTTATCATGTATGGTTAGGTAACCAGGAAAAGTAGAGGAGGACAGCTGTAACCAGCACTTTATCTCCTCTGTCTTTGAGAGATCTCCTTCACACATGCAAAACTTAACAG... | pathogenic | 161,498 |
Gene MYPN (myopalladin) variant at chromosome position 68199588 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATTTTTATTTGTATTTGTTTTGTGGGTTTTTTTTTTCAGGAAAGATGAGATGGGGAAGGGAGACAGATCACTTTTTTTCATCATAAGGCTTGTTTGGAGTATTTAATGTCAGATGAAATTATTTTATGAAATTTTTGAATCTCTATATATTAATAAAAATTACATTGGTATTATATCAAGTTAATTGCATTTTTAGAAGACAACCAAAGAGGTGATACACAGTAGTTCCCCCTTATCTGAGGGGCCCGCGTTCCAAGCCCCACAGTGAATGCCTGAAACTTTAGGTAGTACTGAGCCCTATATATACTATTTTTTAAAGT... | ATTTTTATTTGTATTTGTTTTGTGGGTTTTTTTTTTCAGGAAAGATGAGATGGGGAAGGGAGACAGATCACTTTTTTTCATCATAAGGCTTGTTTGGAGTATTTAATGTCAGATGAAATTATTTTATGAAATTTTTGAATCTCTATATATTAATAAAAATTACATTGGTATTATATCAAGTTAATTGCATTTTTAGAAGACAACCAAAGAGGTGATACACAGTAGTTCCCCCTTATCTGAGGGGCCCGCGTTCCAAGCCCCACAGTGAATGCCTGAAACTTTAGGTAGTACTGAGCCCTATATATACTATTTTTTAAAGT... | benign | 161,530 |
Is the variant located on chromosome 10 at position 68432445, gene DNA2 (DNA replication helicase/nuclease 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Rothmund-Thomson_syndrome', 'Rothmund-Thomson_syndrome,_type_4'] | CATTAACTGTTAGTATTATTATACAATAATTGTGCTTACTTGACTATTGTAGAGTTCTTCTAGAAGAGCTAAGGATTTAATGGACTTTGATCTGCAAATTTCTTGCTCTGTAAATTGCTGGATAGCTGGATGAACCTTCTGAATCTGACCCAAACGCAAAAATCCTATTTTAAACTTGGCTAACTTCAAAAGAATATTGTCAACAGCAGAGTGTGTATAGCTGGTCAACAAAACGCTAAAACCACAGGCGTAGAGAATTCTTACCTAATAATGGGTAAGAGAAAAAAGAAAAAACAGCCTTACTTTTAATTCCAGATAAT... | CATTAACTGTTAGTATTATTATACAATAATTGTGCTTACTTGACTATTGTAGAGTTCTTCTAGAAGAGCTAAGGATTTAATGGACTTTGATCTGCAAATTTCTTGCTCTGTAAATTGCTGGATAGCTGGATGAACCTTCTGAATCTGACCCAAACGCAAAAATCCTATTTTAAACTTGGCTAACTTCAAAAGAATATTGTCAACAGCAGAGTGTGTATAGCTGGTCAACAAAACGCTAAAACCACAGGCGTAGAGAATTCTTACCTAATAATGGGTAAGAGAAAAAAGAAAAAACAGCCTTACTTTTAATTCCAGATAAT... | pathogenic | 161,610 |
The genetic variant at chromosome 10, position 68445088, affecting gene DNA2 (DNA replication helicase/nuclease 2): benign or pathogenic? Disease name(s) if pathogenic? | benign | TGGGTTTCTTCTTCTATTTTGGGCAGCATCACAATTGGGACTGAACTACAATCCATCTGTTGTTCAACTGCTCTAAATATAAAGTTCCAAGTTAGAGATGCTTATAAACCATTTCCCTGGCTGGGTACGAAGTGAGATAATTCCAAAATAAGAACACATATATGATCATCATCATAACTCATAACCACAGCCCCTAATGTTCCTTAAAAGTCATTTAAACATAAGCCATATGGCTTTTTATAAAACCAAATGTGTGAGAAACTCAATACTGCATTATTTTGCCTTCAGCGACTATCCCCCAAACAACTCAGGTTGGGTAA... | TGGGTTTCTTCTTCTATTTTGGGCAGCATCACAATTGGGACTGAACTACAATCCATCTGTTGTTCAACTGCTCTAAATATAAAGTTCCAAGTTAGAGATGCTTATAAACCATTTCCCTGGCTGGGTACGAAGTGAGATAATTCCAAAATAAGAACACATATATGATCATCATCATAACTCATAACCACAGCCCCTAATGTTCCTTAAAAGTCATTTAAACATAAGCCATATGGCTTTTTATAAAACCAAATGTGTGAGAAACTCAATACTGCATTATTTTGCCTTCAGCGACTATCCCCCAAACAACTCAGGTTGGGTAA... | benign | 161,626 |
Is the chromosome 10, position 68445088 variant in DNA2 (DNA replication helicase/nuclease 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TGGGTTTCTTCTTCTATTTTGGGCAGCATCACAATTGGGACTGAACTACAATCCATCTGTTGTTCAACTGCTCTAAATATAAAGTTCCAAGTTAGAGATGCTTATAAACCATTTCCCTGGCTGGGTACGAAGTGAGATAATTCCAAAATAAGAACACATATATGATCATCATCATAACTCATAACCACAGCCCCTAATGTTCCTTAAAAGTCATTTAAACATAAGCCATATGGCTTTTTATAAAACCAAATGTGTGAGAAACTCAATACTGCATTATTTTGCCTTCAGCGACTATCCCCCAAACAACTCAGGTTGGGTAA... | TGGGTTTCTTCTTCTATTTTGGGCAGCATCACAATTGGGACTGAACTACAATCCATCTGTTGTTCAACTGCTCTAAATATAAAGTTCCAAGTTAGAGATGCTTATAAACCATTTCCCTGGCTGGGTACGAAGTGAGATAATTCCAAAATAAGAACACATATATGATCATCATCATAACTCATAACCACAGCCCCTAATGTTCCTTAAAAGTCATTTAAACATAAGCCATATGGCTTTTTATAAAACCAAATGTGTGAGAAACTCAATACTGCATTATTTTGCCTTCAGCGACTATCCCCCAAACAACTCAGGTTGGGTAA... | benign | 161,627 |
Clinical impact (benign or pathogenic) of the variant at chromosome 10, location 68450250, gene DNA2 (DNA replication helicase/nuclease 2): what disease(s) if pathogenic? | benign | ATGATTATCATTTACATGATAGCTACTGTGACAAATAATACTAACTCTACAGTTTGTTTCTCCAGAGCATGAAATGTCATTAACCACCTTAGGTTTCATGAAATTCTTCGGAGAAACCATCTAAGACAAGTTAAAAATAGTCCTTTTAGCTCATGTAACAGCTTTAGCTGTAAGTCAATATAGCAAGACCCCATCTAAAAAAAACTTTCTTAAACCTTTTATTATCAAAATTAAAAAGTCAAATCTTTTAAGTAGGGAAACATTTTTTTCCTCATACCCAACATAATAATGAACTACCATAATTAATTTTTCAATGTCTT... | ATGATTATCATTTACATGATAGCTACTGTGACAAATAATACTAACTCTACAGTTTGTTTCTCCAGAGCATGAAATGTCATTAACCACCTTAGGTTTCATGAAATTCTTCGGAGAAACCATCTAAGACAAGTTAAAAATAGTCCTTTTAGCTCATGTAACAGCTTTAGCTGTAAGTCAATATAGCAAGACCCCATCTAAAAAAAACTTTCTTAAACCTTTTATTATCAAAATTAAAAAGTCAAATCTTTTAAGTAGGGAAACATTTTTTTCCTCATACCCAACATAATAATGAACTACCATAATTAATTTTTCAATGTCTT... | benign | 161,632 |
Variant on chromosome 10, at position 69015627, affecting KIFBP (kinesin family binding protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Goldberg-Shprintzen_syndrome', 'likely other unspecified diseases'] | GATTTAGAGACTTATGATCTACATTTGAAGTAATTGTGTCAAGCAAATCGCACTATGATTTGACCCTTACCTTTCATTTAGTTGATGTTTCTAGTCTGGGAACTTAAAACTTCATCACTTGGTTAGTTTAAACTCACATATTTGCCATGCTACTAAACTACTCAGATTTTCCTTAAACCCAGTTTTGTTTTTTGAGATGGGGTTTCTGTCACCCGGGCTGGAGTGCAGTGGCATGATCTCCACTCACTGCATCCTCCACCTCCCTGGCTCAAGCAGTCCTCCTACATCAGCCTGCCAAGTAACTGGGACAACAGGTGTGT... | GATTTAGAGACTTATGATCTACATTTGAAGTAATTGTGTCAAGCAAATCGCACTATGATTTGACCCTTACCTTTCATTTAGTTGATGTTTCTAGTCTGGGAACTTAAAACTTCATCACTTGGTTAGTTTAAACTCACATATTTGCCATGCTACTAAACTACTCAGATTTTCCTTAAACCCAGTTTTGTTTTTTGAGATGGGGTTTCTGTCACCCGGGCTGGAGTGCAGTGGCATGATCTCCACTCACTGCATCCTCCACCTCCCTGGCTCAAGCAGTCCTCCTACATCAGCCTGCCAAGTAACTGGGACAACAGGTGTGT... | pathogenic | 161,674 |
Assess the variant on chromosome 10, position 69369643, impacting HK1 (hexokinase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GTTCTCATCAAGGGCTGCCCTCCCTGGTGCATACTCCAGTCTGTGTGGCTCCCACCGTGAGCTGGGGCGGGGCCCATGTGCTCAGAATGCTATCCCTGAGCTACCTCTGCAGGCCTGCGGGGCCTGGACCGTGAATCTTCCAACCCTGCTGCATTTATAGTGACTTGCCCCATTCAGAGTAAAACAGCCAAGTATAACAATTATTTTTCTGTTCTCATATCTTTTTAGTTTTTTTTTAAGAAAGCAAAAGCAATATGTAAAACTATCAAAGTAAGATAAAATTATAGAATGTTTACCATTGGATGTCTATCCTTGATGTT... | GTTCTCATCAAGGGCTGCCCTCCCTGGTGCATACTCCAGTCTGTGTGGCTCCCACCGTGAGCTGGGGCGGGGCCCATGTGCTCAGAATGCTATCCCTGAGCTACCTCTGCAGGCCTGCGGGGCCTGGACCGTGAATCTTCCAACCCTGCTGCATTTATAGTGACTTGCCCCATTCAGAGTAAAACAGCCAAGTATAACAATTATTTTTCTGTTCTCATATCTTTTTAGTTTTTTTTTAAGAAAGCAAAAGCAATATGTAAAACTATCAAAGTAAGATAAAATTATAGAATGTTTACCATTGGATGTCTATCCTTGATGTT... | benign | 161,707 |
A genetic variant at chromosome 10, position 69572926, affecting gene NEUROG3 (neurogenin 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Congenital_malabsorptive_diarrhea_4'] | CCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGGAGTTCACGACACAGCCACCTCAGTGCCTGGGGAGTAAAATATGCTCAGGGGATTTGCTAGGCCTCTAAGCACCTTGGGAAAATTCCTAGGATGCCCAGCCCAGCCGTGTTTCCGAGGACTCTGACTCTGCAATTGAATTATTACTGTATCCCTTCCCCAAGTGCAACCAACAGTTGCTCTAAAGCTAGGCTGGTGGAGTTG... | CCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGGAGTTCACGACACAGCCACCTCAGTGCCTGGGGAGTAAAATATGCTCAGGGGATTTGCTAGGCCTCTAAGCACCTTGGGAAAATTCCTAGGATGCCCAGCCCAGCCGTGTTTCCGAGGACTCTGACTCTGCAATTGAATTATTACTGTATCCCTTCCCCAAGTGCAACCAACAGTTGCTCTAAAGCTAGGCTGGTGGAGTTG... | pathogenic | 161,769 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 70597843, gene PRF1 (perforin 1). What disease(s) is it linked to if pathogenic? | benign | GGTGAAGTAGGTGGGGACAAGACCTGGAGGGCAAACGGAAGGAGGCTAGCACAGTGGAGACTTCCTCAAACAAACAAGGGGGCCTCGGGTGTGCCAAAGCATCCCAATGTCCAGGTGGGGTGGAAATGAAAGTGTCATGCCGGGTCTTGAGTTAGGGCTGGCTCTTTCTGCCGCTAACTTCTTCTGTGACTACAGTTGAATCCCTTCCTCCTGCTAGGTCTCAGTTTCCCTGTGTATGAAACCACATGAACTTTCGGCACCCTCCTGTAGCACTAGGAAGGTTCAAGACAGTCCTAAGAAGGGAGTAAAATAGACTGTCG... | GGTGAAGTAGGTGGGGACAAGACCTGGAGGGCAAACGGAAGGAGGCTAGCACAGTGGAGACTTCCTCAAACAAACAAGGGGGCCTCGGGTGTGCCAAAGCATCCCAATGTCCAGGTGGGGTGGAAATGAAAGTGTCATGCCGGGTCTTGAGTTAGGGCTGGCTCTTTCTGCCGCTAACTTCTTCTGTGACTACAGTTGAATCCCTTCCTCCTGCTAGGTCTCAGTTTCCCTGTGTATGAAACCACATGAACTTTCGGCACCCTCCTGTAGCACTAGGAAGGTTCAAGACAGTCCTAAGAAGGGAGTAAAATAGACTGTCG... | benign | 161,880 |
Is the genetic change at chromosome 10, position 70598269, within gene PRF1 (perforin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Aplastic_anemia', 'Familial_hemophagocytic_lymphohistiocytosis_2'] | AGGCCCGCCCTGGCCTTTTGAACCTGCTTTCCCCGGGAGGCACCGCCCACCCCCATGTTTGTTTCCAATGAGCGCAGCAGCCACCGTGAAGTGTCGAGGTCTCTCTCATGCTCTGGTTTGAGTGTGTGTCTGTGAATGGGACATGTGGTAACAGTAGTTTCACCAGGCTTTTGGACCTTGGCCACCCCTCCTGTCCCACCTGGGGATTTAGGGTTAATGTAATGTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCT... | AGGCCCGCCCTGGCCTTTTGAACCTGCTTTCCCCGGGAGGCACCGCCCACCCCCATGTTTGTTTCCAATGAGCGCAGCAGCCACCGTGAAGTGTCGAGGTCTCTCTCATGCTCTGGTTTGAGTGTGTGTCTGTGAATGGGACATGTGGTAACAGTAGTTTCACCAGGCTTTTGGACCTTGGCCACCCCTCCTGTCCCACCTGGGGATTTAGGGTTAATGTAATGTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCT... | pathogenic | 161,887 |
Is the chromosome 10, position 70598292 variant in PRF1 (perforin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Aplastic_anemia', 'Familial_hemophagocytic_lymphohistiocytosis_2'] | CTGCTTTCCCCGGGAGGCACCGCCCACCCCCATGTTTGTTTCCAATGAGCGCAGCAGCCACCGTGAAGTGTCGAGGTCTCTCTCATGCTCTGGTTTGAGTGTGTGTCTGTGAATGGGACATGTGGTAACAGTAGTTTCACCAGGCTTTTGGACCTTGGCCACCCCTCCTGTCCCACCTGGGGATTTAGGGTTAATGTAATGTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGAC... | CTGCTTTCCCCGGGAGGCACCGCCCACCCCCATGTTTGTTTCCAATGAGCGCAGCAGCCACCGTGAAGTGTCGAGGTCTCTCTCATGCTCTGGTTTGAGTGTGTGTCTGTGAATGGGACATGTGGTAACAGTAGTTTCACCAGGCTTTTGGACCTTGGCCACCCCTCCTGTCCCACCTGGGGATTTAGGGTTAATGTAATGTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGAC... | pathogenic | 161,888 |
Located at chromosome 10 position 70598298, the variant affecting gene PRF1 (perforin 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Aplastic_anemia', 'Familial_hemophagocytic_lymphohistiocytosis_2'] | TCCCCGGGAGGCACCGCCCACCCCCATGTTTGTTTCCAATGAGCGCAGCAGCCACCGTGAAGTGTCGAGGTCTCTCTCATGCTCTGGTTTGAGTGTGTGTCTGTGAATGGGACATGTGGTAACAGTAGTTTCACCAGGCTTTTGGACCTTGGCCACCCCTCCTGTCCCACCTGGGGATTTAGGGTTAATGTAATGTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCA... | TCCCCGGGAGGCACCGCCCACCCCCATGTTTGTTTCCAATGAGCGCAGCAGCCACCGTGAAGTGTCGAGGTCTCTCTCATGCTCTGGTTTGAGTGTGTGTCTGTGAATGGGACATGTGGTAACAGTAGTTTCACCAGGCTTTTGGACCTTGGCCACCCCTCCTGTCCCACCTGGGGATTTAGGGTTAATGTAATGTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCA... | pathogenic | 161,889 |
Evaluate this variant at chromosome 10, position 70598447, gene PRF1 (perforin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Aplastic_anemia', 'Familial_hemophagocytic_lymphohistiocytosis_2'] | TGGCCACCCCTCCTGTCCCACCTGGGGATTTAGGGTTAATGTAATGTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAA... | TGGCCACCCCTCCTGTCCCACCTGGGGATTTAGGGTTAATGTAATGTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAA... | pathogenic | 161,895 |
Is the genetic variant on chromosome 10, position 70598530, gene PRF1 (perforin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Aplastic_anemia', 'Familial_hemophagocytic_lymphohistiocytosis', 'Familial_hemophagocytic_lymphohistiocytosis_2'] | ACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGC... | ACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGC... | pathogenic | 161,901 |
Evaluate the clinical significance of the mutation at chromosome 10, position 70598629 in gene PRF1 (perforin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Aplastic_anemia', 'Familial_hemophagocytic_lymphohistiocytosis', 'Familial_hemophagocytic_lymphohistiocytosis_2', 'Lymphoma,_non-Hodgkin,_familial'] | GCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTT... | GCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTT... | pathogenic | 161,905 |
Benign or pathogenic: chromosome 10, position 70598641, gene PRF1 (perforin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Aplastic_anemia', 'Familial_hemophagocytic_lymphohistiocytosis_2'] | AAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGG... | AAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGG... | pathogenic | 161,907 |
Variant chromosome 10, position 70598757, gene PRF1 (perforin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_2'] | TTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGC... | TTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGC... | pathogenic | 161,910 |
Variant in PRF1 (perforin 1), chromosome 10, position 70598799—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Aplastic_anemia', 'Familial_hemophagocytic_lymphohistiocytosis_2'] | GAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGC... | GAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGC... | pathogenic | 161,913 |
Variant in gene PRF1 (perforin 1), located at chromosome 10 position 70598858: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis', 'Familial_hemophagocytic_lymphohistiocytosis_2'] | AAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAAT... | AAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAAT... | pathogenic | 161,920 |
Clinical impact (benign or pathogenic) of the variant at chromosome 10, location 70598865, gene PRF1 (perforin 1): what disease(s) if pathogenic? | pathogenic; ['Aplastic_anemia', 'Familial_hemophagocytic_lymphohistiocytosis', 'Familial_hemophagocytic_lymphohistiocytosis_2', 'Inborn_genetic_diseases', 'Lymphoma,_non-Hodgkin,_familial'] | TCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTT... | TCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTT... | pathogenic | 161,921 |
A genetic alteration at chromosome 10, position 70598909, in gene PRF1 (perforin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Aplastic_anemia', 'Familial_hemophagocytic_lymphohistiocytosis_2', 'Lymphoma,_non-Hodgkin,_familial'] | TATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGT... | TATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGT... | pathogenic | 161,924 |
Is chromosome 10, position 70599157, gene PRF1 (perforin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Aplastic_anemia', 'Familial_hemophagocytic_lymphohistiocytosis_2'] | TCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTC... | TCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTC... | pathogenic | 161,934 |
A genetic alteration at chromosome 10, position 70600678, in gene PRF1 (perforin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_2'] | AGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAG... | AGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAG... | pathogenic | 161,948 |
Benign or pathogenic: chromosome 10, position 70600707, gene PRF1 (perforin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Aplastic_anemia', 'Familial_hemophagocytic_lymphohistiocytosis_2'] | GTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCC... | GTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCC... | pathogenic | 161,951 |
Considering the genetic mutation at chromosome 10, position 70600752, impacting PRF1 (perforin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Aplastic_anemia', 'Familial_hemophagocytic_lymphohistiocytosis', 'Familial_hemophagocytic_lymphohistiocytosis_2', 'Lymphoma,_non-Hodgkin,_familial'] | CACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATA... | CACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATA... | pathogenic | 161,953 |
Is chromosome 10, position 70600837, gene PRF1 (perforin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Aplastic_anemia', 'Familial_hemophagocytic_lymphohistiocytosis_2'] | ATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTT... | ATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTT... | pathogenic | 161,958 |
Variant in gene PRF1 (perforin 1), located at chromosome 10 position 70600852: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Aplastic_anemia', 'Autoinflammatory_syndrome', 'Familial_hemophagocytic_lymphohistiocytosis', 'Familial_hemophagocytic_lymphohistiocytosis_2', 'Lymphoma,_non-Hodgkin,_familial', 'PRF1-related_disorder'] | CCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAG... | CCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAG... | pathogenic | 161,959 |
Chromosome 10, position 70875386, gene SGPL1 (sphingosine-1-phosphate lyase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACTTCTTCCACAGTATGGCTATGCCCCAAAAGGCTCATCATTGGTGTTGTATAGTGACAAGAAGTACAGGAACTATCAGTTCTTCGTCGATACAGATTGGCAGGGTGGCATCTATGCTTCCCCAACCATCGCAGGCTCACGGCCTGGTGGCATTAGCGCAGCCTGTTGGGCTGCCTTGATGCACTTCGGTGAGAACGGCTATGTTGAAGCTACCAAACAGATCATCAAAACTGCTCGCTTCCTCAAGTCAGAGTATGTGTGGAAGACTGGGGTTCTGCCTTGTCTATTGCTTTTTTGTCCTAGTAGGCTCAAGGCACCTG... | ACTTCTTCCACAGTATGGCTATGCCCCAAAAGGCTCATCATTGGTGTTGTATAGTGACAAGAAGTACAGGAACTATCAGTTCTTCGTCGATACAGATTGGCAGGGTGGCATCTATGCTTCCCCAACCATCGCAGGCTCACGGCCTGGTGGCATTAGCGCAGCCTGTTGGGCTGCCTTGATGCACTTCGGTGAGAACGGCTATGTTGAAGCTACCAAACAGATCATCAAAACTGCTCGCTTCCTCAAGTCAGAGTATGTGTGGAAGACTGGGGTTCTGCCTTGTCTATTGCTTTTTTGTCCTAGTAGGCTCAAGGCACCTG... | benign | 161,988 |
Does the chromosome 10 mutation at position 70884011 within gene PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Pterin-4_alpha-carbinolamine_dehydratase_1_deficiency'] | GACACAGGTGAGAACTATTAGGAAGAAGGCTTCCCAGTCTCTGCATAGTGACATATGTGAGGTAAAATTTGTGTGGCATTCTCGTGGGGGTAGAGATGAGGCTGCTCTTAGTGCCCCCTTCTTCATGACAGCGTGGGAATATTCTGTCCTAGAGAGTTCCTGGCTGGGGAACTGACTGTGCAAACCATCTCTTAACTGCTCCAGTAATAAATAGCCTGCCAGGTCCTAAGCTGCCTGTGTCTTCTCTCTTGTGGAGTAAACCAGGCAAGCCCTAAGAACTTTGCTAAGATTTTAAGAAACTGAAGAGACCATCAGGATTT... | GACACAGGTGAGAACTATTAGGAAGAAGGCTTCCCAGTCTCTGCATAGTGACATATGTGAGGTAAAATTTGTGTGGCATTCTCGTGGGGGTAGAGATGAGGCTGCTCTTAGTGCCCCCTTCTTCATGACAGCGTGGGAATATTCTGTCCTAGAGAGTTCCTGGCTGGGGAACTGACTGTGCAAACCATCTCTTAACTGCTCCAGTAATAAATAGCCTGCCAGGTCCTAAGCTGCCTGTGTCTTCTCTCTTGTGGAGTAAACCAGGCAAGCCCTAAGAACTTTGCTAAGATTTTAAGAAACTGAAGAGACCATCAGGATTT... | pathogenic | 162,000 |
The mutation impacting SLC29A3 (solute carrier family 29 member 3) on chromosome 10 at position 71322871: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['H_syndrome'] | CTCCCGACTCACTGGCTTCAAGGCTTGCAGGAAGGATGCCTGTACTTGGAACCAGCAGACACAGATTCCCATTCCCAGCCAGTCCTCCCCGGTGTGCTGAGGAGTCCAGCATGGGCCCCAGTCTGCTTGGCTGTGTAACTTCACTCTTGTCATCTACTAGTTATGTGACCCTGGGCAAGTTACTCAACCTTTCTGAGCCTCAGACCCCTCTGTGAAATGGGTCTTAGAGTAGTACCTAATATATTAGGCTGTTGTCAGCCTCAAGTGTGACCTCTGTTAGGCACAGACCTTGGCATTTGTGATCACTGGACTTAAGTTTA... | CTCCCGACTCACTGGCTTCAAGGCTTGCAGGAAGGATGCCTGTACTTGGAACCAGCAGACACAGATTCCCATTCCCAGCCAGTCCTCCCCGGTGTGCTGAGGAGTCCAGCATGGGCCCCAGTCTGCTTGGCTGTGTAACTTCACTCTTGTCATCTACTAGTTATGTGACCCTGGGCAAGTTACTCAACCTTTCTGAGCCTCAGACCCCTCTGTGAAATGGGTCTTAGAGTAGTACCTAATATATTAGGCTGTTGTCAGCCTCAAGTGTGACCTCTGTTAGGCACAGACCTTGGCATTTGTGATCACTGGACTTAAGTTTA... | pathogenic | 162,019 |
Gene SLC29A3 (solute carrier family 29 member 3) variant at chromosome position 71362220 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['H_syndrome'] | CTTACTCTGTCACCTAGGCTGGAGTGCAGTGATGCGGTCTTGGCTCACTGCAATGTCCATCTCCCGAGTTTAGGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATTGGGTCAGGCTGGTCTTGAACTCCTAACCTCAAGTGACCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGGATGACAAGAACCTGTCTTCTACCGAAGGAGACACATGATAAACAAGTAAACCAATGCAATTACTGTAGA... | CTTACTCTGTCACCTAGGCTGGAGTGCAGTGATGCGGTCTTGGCTCACTGCAATGTCCATCTCCCGAGTTTAGGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATTGGGTCAGGCTGGTCTTGAACTCCTAACCTCAAGTGACCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGGATGACAAGAACCTGTCTTCTACCGAAGGAGACACATGATAAACAAGTAAACCAATGCAATTACTGTAGA... | pathogenic | 162,051 |
Considering the variant on chromosome 10, location 71397276, involving gene CDH23 (cadherin related 23), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AGCTTCCCAGGAGCGTTTCCTCGTACGCTGGAGGCACGGAGCTCTCCCCACCCTTTCTGGACTTCCTGACATATGCCAGCTCCTTCCCACCTTTGCACAAGTTGATTGCGACTGCGGTCACCAAACCATTGTTCCTGGCCCAGCCGTTGCCTGCAGTGGGCACCTGGGGCCTTTGCACATGCTGTTTCTCCTGCCTAAAACTCCACTCTCTCTCCCTTGCTCATCCTTCAGCTCAGTCACCTCCTCTAGGAGGTCTTCCCTGATCCCCTCGGCCAGGCGCCATTAAAGCACTCTTCTTCCTAGCACTGATTCTGGCTGTA... | AGCTTCCCAGGAGCGTTTCCTCGTACGCTGGAGGCACGGAGCTCTCCCCACCCTTTCTGGACTTCCTGACATATGCCAGCTCCTTCCCACCTTTGCACAAGTTGATTGCGACTGCGGTCACCAAACCATTGTTCCTGGCCCAGCCGTTGCCTGCAGTGGGCACCTGGGGCCTTTGCACATGCTGTTTCTCCTGCCTAAAACTCCACTCTCTCTCCCTTGCTCATCCTTCAGCTCAGTCACCTCCTCTAGGAGGTCTTCCCTGATCCCCTCGGCCAGGCGCCATTAAAGCACTCTTCTTCCTAGCACTGATTCTGGCTGTA... | benign | 162,067 |
Mutation at chromosome 10, position 71397276, within CDH23 (cadherin related 23): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AGCTTCCCAGGAGCGTTTCCTCGTACGCTGGAGGCACGGAGCTCTCCCCACCCTTTCTGGACTTCCTGACATATGCCAGCTCCTTCCCACCTTTGCACAAGTTGATTGCGACTGCGGTCACCAAACCATTGTTCCTGGCCCAGCCGTTGCCTGCAGTGGGCACCTGGGGCCTTTGCACATGCTGTTTCTCCTGCCTAAAACTCCACTCTCTCTCCCTTGCTCATCCTTCAGCTCAGTCACCTCCTCTAGGAGGTCTTCCCTGATCCCCTCGGCCAGGCGCCATTAAAGCACTCTTCTTCCTAGCACTGATTCTGGCTGTA... | AGCTTCCCAGGAGCGTTTCCTCGTACGCTGGAGGCACGGAGCTCTCCCCACCCTTTCTGGACTTCCTGACATATGCCAGCTCCTTCCCACCTTTGCACAAGTTGATTGCGACTGCGGTCACCAAACCATTGTTCCTGGCCCAGCCGTTGCCTGCAGTGGGCACCTGGGGCCTTTGCACATGCTGTTTCTCCTGCCTAAAACTCCACTCTCTCTCCCTTGCTCATCCTTCAGCTCAGTCACCTCCTCTAGGAGGTCTTCCCTGATCCCCTCGGCCAGGCGCCATTAAAGCACTCTTCTTCCTAGCACTGATTCTGGCTGTA... | benign | 162,068 |
Regarding the variant found on chromosome 10 at position 71510124 in gene CDH23: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'USHER_SYNDROME,_TYPE_ID/F,_DIGENIC', 'Usher_syndrome_type_1', 'Usher_syndrome_type_1D'] | CCTTGGAGAAGCTGCTTCACCTCTCTGAGACTCAGCTTCCTAATCTGCAAAATGGATAGAATAACAACTACCAAACAGACTTGCTGGGAGGATTTAATGAGAGAATCCACATGAATGGACCTTGTGTCTGGCATATCATAAGAGCCCAGTGAATGTCCAATGTCTTCCTTTTCCAGATCTTGGGCTTCTTGTTAGGATCTGATAGGTCATGTCCATGAAGTCCTGAATCTTGAGTTTACATATTGAGTGTTGAGATATCTGTGCTGTGGAAAGAAATGTAGGCTCTGAGCCCCAAATGCCTGGGATGTGGATTCCAGCTC... | CCTTGGAGAAGCTGCTTCACCTCTCTGAGACTCAGCTTCCTAATCTGCAAAATGGATAGAATAACAACTACCAAACAGACTTGCTGGGAGGATTTAATGAGAGAATCCACATGAATGGACCTTGTGTCTGGCATATCATAAGAGCCCAGTGAATGTCCAATGTCTTCCTTTTCCAGATCTTGGGCTTCTTGTTAGGATCTGATAGGTCATGTCCATGAAGTCCTGAATCTTGAGTTTACATATTGAGTGTTGAGATATCTGTGCTGTGGAAAGAAATGTAGGCTCTGAGCCCCAAATGCCTGGGATGTGGATTCCAGCTC... | pathogenic | 162,088 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 71566800, gene CDH23 (cadherin related 23). What disease(s) is it linked to if pathogenic? | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | CCTGTTTCCTGTTGTTGTTGTTGTTGTTAAATATTTGGTAGAATTCACCAGTGAAGCTGTTGAGTCCTGTGCTTTTCTTTGTTGGAAGATTTTTGATTACCGAATCAAATAAACATAAAAGCATAATGTTGAATTAAAAAGCAAGCTTCAGAGTGATCTATTGTATATGAAAACCATCTATTTACAAATACCCACAAAACAGTATCTTATATTATTCATGGCTAGATATAGATACATATGAAGTACAAAAGCAGACTTTCACACAGGGGGCTGGCAGCTCTGAAATCAGAATGTGGCCCTCCTTTCTTGTGGCAGGAGCC... | CCTGTTTCCTGTTGTTGTTGTTGTTGTTAAATATTTGGTAGAATTCACCAGTGAAGCTGTTGAGTCCTGTGCTTTTCTTTGTTGGAAGATTTTTGATTACCGAATCAAATAAACATAAAAGCATAATGTTGAATTAAAAAGCAAGCTTCAGAGTGATCTATTGTATATGAAAACCATCTATTTACAAATACCCACAAAACAGTATCTTATATTATTCATGGCTAGATATAGATACATATGAAGTACAAAAGCAGACTTTCACACAGGGGGCTGGCAGCTCTGAAATCAGAATGTGGCCCTCCTTTCTTGTGGCAGGAGCC... | pathogenic | 162,108 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 71566801, gene CDH23 (cadherin related 23). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12'] | CTGTTTCCTGTTGTTGTTGTTGTTGTTAAATATTTGGTAGAATTCACCAGTGAAGCTGTTGAGTCCTGTGCTTTTCTTTGTTGGAAGATTTTTGATTACCGAATCAAATAAACATAAAAGCATAATGTTGAATTAAAAAGCAAGCTTCAGAGTGATCTATTGTATATGAAAACCATCTATTTACAAATACCCACAAAACAGTATCTTATATTATTCATGGCTAGATATAGATACATATGAAGTACAAAAGCAGACTTTCACACAGGGGGCTGGCAGCTCTGAAATCAGAATGTGGCCCTCCTTTCTTGTGGCAGGAGCCG... | CTGTTTCCTGTTGTTGTTGTTGTTGTTAAATATTTGGTAGAATTCACCAGTGAAGCTGTTGAGTCCTGTGCTTTTCTTTGTTGGAAGATTTTTGATTACCGAATCAAATAAACATAAAAGCATAATGTTGAATTAAAAAGCAAGCTTCAGAGTGATCTATTGTATATGAAAACCATCTATTTACAAATACCCACAAAACAGTATCTTATATTATTCATGGCTAGATATAGATACATATGAAGTACAAAAGCAGACTTTCACACAGGGGGCTGGCAGCTCTGAAATCAGAATGTGGCCCTCCTTTCTTGTGGCAGGAGCCG... | pathogenic | 162,109 |
Is the genetic mutation found on chromosome 10 at position 71566828, within the gene CDH23 (cadherin related 23), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types'] | AAATATTTGGTAGAATTCACCAGTGAAGCTGTTGAGTCCTGTGCTTTTCTTTGTTGGAAGATTTTTGATTACCGAATCAAATAAACATAAAAGCATAATGTTGAATTAAAAAGCAAGCTTCAGAGTGATCTATTGTATATGAAAACCATCTATTTACAAATACCCACAAAACAGTATCTTATATTATTCATGGCTAGATATAGATACATATGAAGTACAAAAGCAGACTTTCACACAGGGGGCTGGCAGCTCTGAAATCAGAATGTGGCCCTCCTTTCTTGTGGCAGGAGCCGTGGGCCCCCATGAAGTGTTTCGTTCTG... | AAATATTTGGTAGAATTCACCAGTGAAGCTGTTGAGTCCTGTGCTTTTCTTTGTTGGAAGATTTTTGATTACCGAATCAAATAAACATAAAAGCATAATGTTGAATTAAAAAGCAAGCTTCAGAGTGATCTATTGTATATGAAAACCATCTATTTACAAATACCCACAAAACAGTATCTTATATTATTCATGGCTAGATATAGATACATATGAAGTACAAAAGCAGACTTTCACACAGGGGGCTGGCAGCTCTGAAATCAGAATGTGGCCCTCCTTTCTTGTGGCAGGAGCCGTGGGCCCCCATGAAGTGTTTCGTTCTG... | pathogenic | 162,110 |
A genetic variant on chromosome 10, position 71566873, affects the gene CDH23 (cadherin related 23). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | TTTCTTTGTTGGAAGATTTTTGATTACCGAATCAAATAAACATAAAAGCATAATGTTGAATTAAAAAGCAAGCTTCAGAGTGATCTATTGTATATGAAAACCATCTATTTACAAATACCCACAAAACAGTATCTTATATTATTCATGGCTAGATATAGATACATATGAAGTACAAAAGCAGACTTTCACACAGGGGGCTGGCAGCTCTGAAATCAGAATGTGGCCCTCCTTTCTTGTGGCAGGAGCCGTGGGCCCCCATGAAGTGTTTCGTTCTGGATTCATGGGACTGGCTCTGGCACTTCTGTGTGATCTAGAAAGAG... | TTTCTTTGTTGGAAGATTTTTGATTACCGAATCAAATAAACATAAAAGCATAATGTTGAATTAAAAAGCAAGCTTCAGAGTGATCTATTGTATATGAAAACCATCTATTTACAAATACCCACAAAACAGTATCTTATATTATTCATGGCTAGATATAGATACATATGAAGTACAAAAGCAGACTTTCACACAGGGGGCTGGCAGCTCTGAAATCAGAATGTGGCCCTCCTTTCTTGTGGCAGGAGCCGTGGGCCCCCATGAAGTGTTTCGTTCTGGATTCATGGGACTGGCTCTGGCACTTCTGTGTGATCTAGAAAGAG... | pathogenic | 162,112 |
Does the chromosome 10 mutation at position 71615519 within gene CDH23 (cadherin related 23) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Retinal_dystrophy'] | AGGCCCCACTGTCTGCAGCTTCTGCCTGGCCTTGCCCAGCCCATACAGTGGACTGGGAGGACAGGTGAGAGTGGCCACTAGCCACTAACTTGGGTAGAAGTAAGCTGCCTTGCTGACCAGCACAGGCAGGTGACTCAGCATGGGTTGGCTGAGAATAGCTTCTGTCCCAAAGTCTAAAGTTAGAAGAGGAAATTGCCCCACCCTTGACTTTTTCCCTAGTTAATCCAAGAGAGGCTATGAGCCTCTGCTACATGCAGATCCCTTTAGAGTTGGGGAAGGGGAAGACCTGGGAGCTACAGCCACTTCCACGGTGATTCTGG... | AGGCCCCACTGTCTGCAGCTTCTGCCTGGCCTTGCCCAGCCCATACAGTGGACTGGGAGGACAGGTGAGAGTGGCCACTAGCCACTAACTTGGGTAGAAGTAAGCTGCCTTGCTGACCAGCACAGGCAGGTGACTCAGCATGGGTTGGCTGAGAATAGCTTCTGTCCCAAAGTCTAAAGTTAGAAGAGGAAATTGCCCCACCCTTGACTTTTTCCCTAGTTAATCCAAGAGAGGCTATGAGCCTCTGCTACATGCAGATCCCTTTAGAGTTGGGGAAGGGGAAGACCTGGGAGCTACAGCCACTTCCACGGTGATTCTGG... | pathogenic | 162,132 |
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