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 |
|---|---|---|---|---|---|
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 76348349, gene BBS10 (Bardet-Biedl syndrome 10). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | AATTTTCGTAAGAAATTTCTATTCTATTTCCCCTTGTTGAATAAGCAGTGGAATTGTTCTTGAGTAATGGTTCATAATAATCAGTTAGCCTGTTTCTTTCCAAAGACAAACATGTCAGCGTTTCAACTGTTTGGAATGTATCTGTTGGTGTCAGTGTGGGGGTTGAATACGGAATATATGTTTCTAATTCTACATCTGGAATTACCAAATTAGAATGTACTTTTAAATATGTTTGAGTTTTTTCCAATGCATCTTTGTTCTCTGCAACTGTGTCCTGATAAGGCCTTTGTATTGAGCCATTACCAGGATCTGGTGCTTGA... | AATTTTCGTAAGAAATTTCTATTCTATTTCCCCTTGTTGAATAAGCAGTGGAATTGTTCTTGAGTAATGGTTCATAATAATCAGTTAGCCTGTTTCTTTCCAAAGACAAACATGTCAGCGTTTCAACTGTTTGGAATGTATCTGTTGGTGTCAGTGTGGGGGTTGAATACGGAATATATGTTTCTAATTCTACATCTGGAATTACCAAATTAGAATGTACTTTTAAATATGTTTGAGTTTTTTCCAATGCATCTTTGTTCTCTGCAACTGTGTCCTGATAAGGCCTTTGTATTGAGCCATTACCAGGATCTGGTGCTTGA... | pathogenic | 199,850 |
Regarding the variant found on chromosome 12 at position 80209493 in gene OTOGL (otogelin like): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_84B'] | TCCCCCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCACGCCCAGCCCTGACTTTTGGAAATTTTTAAGTCAAGCAAAAAGTCAAACAGTTACTAGATTAGGAAAAATAATCCTGAAGTATGATTTATAGATTTTTCATAGTGTAGGTTAAGTTATATGGGAAACTGTGAAGGCAAGAGAAACTATTGTAAAATGAGGAGTGGACTTAGTAATGCATATTGGTTATATACATTTCAACTCTTTCCAGAAAAAGTCAATAAACATTCTGCATAAACTAATTCCCTTAATTAAAAATATTTTGTTGGGG... | TCCCCCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCACGCCCAGCCCTGACTTTTGGAAATTTTTAAGTCAAGCAAAAAGTCAAACAGTTACTAGATTAGGAAAAATAATCCTGAAGTATGATTTATAGATTTTTCATAGTGTAGGTTAAGTTATATGGGAAACTGTGAAGGCAAGAGAAACTATTGTAAAATGAGGAGTGGACTTAGTAATGCATATTGGTTATATACATTTCAACTCTTTCCAGAAAAAGTCAATAAACATTCTGCATAAACTAATTCCCTTAATTAAAAATATTTTGTTGGGG... | pathogenic | 199,887 |
Regarding the variant at chromosome 12 and position 80219804, affecting gene OTOGL (otogelin like): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CACATGAAGGAAAGTGAGCCAGGATGGTAGTAATACTTAGTAATAATTTAAGTTCACTTCTTAGAGAAATTTGAATTGTTTCTGAGAATAACCAGGGCCAAACATTTAGACAAACCTGATAACTGCATGACCAGGGAAGATGTCACTGGATGTAAGAAACTATTTTTTTGTGAATAAATTACTTGCTCTTTGATCCCTGTTTTTTGTTACCAATTCCCCATTTCCATTAAGCAGAATGCTGATGGTAGTTTGAAATTTAATTTGAGTGGTAACTATGAAATAGAAACTATCACTGTTGTGTTTAAAATAACAATGATCCT... | CACATGAAGGAAAGTGAGCCAGGATGGTAGTAATACTTAGTAATAATTTAAGTTCACTTCTTAGAGAAATTTGAATTGTTTCTGAGAATAACCAGGGCCAAACATTTAGACAAACCTGATAACTGCATGACCAGGGAAGATGTCACTGGATGTAAGAAACTATTTTTTTGTGAATAAATTACTTGCTCTTTGATCCCTGTTTTTTGTTACCAATTCCCCATTTCCATTAAGCAGAATGCTGATGGTAGTTTGAAATTTAATTTGAGTGGTAACTATGAAATAGAAACTATCACTGTTGTGTTTAAAATAACAATGATCCT... | benign | 199,894 |
Does the genetic variant at chromosome 12, position 80238872, impacting gene OTOGL (otogelin like), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_84B', 'Rare_genetic_deafness'] | TTTTTGTTTGAGACAGGGTCTTTCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGTAACCTCCTCCTCCCGGGTTCAAACAAGTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTGGCTAATTTTTGTATTCTTATTAGAGATGGGGTTTCACCGTGTTGGCCAGGCCAGTCTCGTACTCCTGGCCTCCTGTGATCCACCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGTCACCGCACCCAGCCTGAAAGCCCTGGGATTCTAATAATCTCTT... | TTTTTGTTTGAGACAGGGTCTTTCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGTAACCTCCTCCTCCCGGGTTCAAACAAGTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTGGCTAATTTTTGTATTCTTATTAGAGATGGGGTTTCACCGTGTTGGCCAGGCCAGTCTCGTACTCCTGGCCTCCTGTGATCCACCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGTCACCGCACCCAGCCTGAAAGCCCTGGGATTCTAATAATCTCTT... | pathogenic | 199,908 |
Located at chromosome 12 position 80239361, the variant affecting gene OTOGL (otogelin like)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_84B', 'Meniere_disease', 'Rare_genetic_deafness'] | AGCAAAATATAATTTTTGTGAGCAATAGCAGCCATTAAAGAAAAAGGTAGAGAAAGAAGGTAAAGAGTGATGGAGCAAGTGTGTGATTGGTGCTAGTCTAGATCACATGTCAGAGAAGGGCTCTCTGAGGCATACATTAAACAGGCCTATATGAAGTAAGGGAGGCAACAGTGAGAAGATTTTAGGAAAGAGTGGTTTTGAAGGAGGAAGAACAAGAGCAAGTGTTCTGAGGTGGGAATGAGTTTGAGTGTTTGAAGAACAGCACAAAGTTAATATGACTGGAGTAGGTTGAGCAAGAAAAGGTGCAGAAGATATATGAG... | AGCAAAATATAATTTTTGTGAGCAATAGCAGCCATTAAAGAAAAAGGTAGAGAAAGAAGGTAAAGAGTGATGGAGCAAGTGTGTGATTGGTGCTAGTCTAGATCACATGTCAGAGAAGGGCTCTCTGAGGCATACATTAAACAGGCCTATATGAAGTAAGGGAGGCAACAGTGAGAAGATTTTAGGAAAGAGTGGTTTTGAAGGAGGAAGAACAAGAGCAAGTGTTCTGAGGTGGGAATGAGTTTGAGTGTTTGAAGAACAGCACAAAGTTAATATGACTGGAGTAGGTTGAGCAAGAAAAGGTGCAGAAGATATATGAG... | pathogenic | 199,912 |
The mutation impacting OTOGL (otogelin like) on chromosome 12 at position 80254522: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_84B'] | ATTTAACAATTTATATATCTTCACTTTTTAAAAAAGGAAAGGAAGTTTGAGAGAAAGGTTTCACATTTTTCTGGCACAATCTAGTACTGATGTAGTTTTAATATTTGAAATTAAAAGTAACTTAGCAAGTGAGAGAGGTAGGATTTAAAATTAGGAATGAATCTGCTATACTGATAGCTGTTTCTAAAGAACACTGAGGATTTACTCAAACCCTTTTTATTTTTACAGATTAAAAAAATAGAATCACAGAGATAAGTGATTTTCCCAATATCCTCATTAACTGAGTGAGGATTACTTGGAACCAGATCTGTTTGGCCTCT... | ATTTAACAATTTATATATCTTCACTTTTTAAAAAAGGAAAGGAAGTTTGAGAGAAAGGTTTCACATTTTTCTGGCACAATCTAGTACTGATGTAGTTTTAATATTTGAAATTAAAAGTAACTTAGCAAGTGAGAGAGGTAGGATTTAAAATTAGGAATGAATCTGCTATACTGATAGCTGTTTCTAAAGAACACTGAGGATTTACTCAAACCCTTTTTATTTTTACAGATTAAAAAAATAGAATCACAGAGATAAGTGATTTTCCCAATATCCTCATTAACTGAGTGAGGATTACTTGGAACCAGATCTGTTTGGCCTCT... | pathogenic | 199,921 |
Chromosome 12, position 80255023, gene OTOGL (otogelin like): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TTAGTAACATGGCTGATTTAAATTCTGGCTCAACCTCCTTTACCTGTCAGACAGCAGTAACAAATGCAGTCGCATGGTCTTGGACATTTGAGTAGCAGTACCTAGCTCTTTATGATTCTGTGTGACAGTGTAAATCTTTCTCATCTTGGAATGAACAGAAACTAAACTAAAAATGTACTTTCTCCCTCCTTCTCTCCCTTCCTCCCTCAAATGCAAGGAAACATTGTTTTGTTTCCTTTATTCTGTATGGTGAACCTTGAGTTTTTGATGGCAAGTCATGGGATAAGAAAATTGAAAACTACTGAAATAGATCCTTTAAG... | TTAGTAACATGGCTGATTTAAATTCTGGCTCAACCTCCTTTACCTGTCAGACAGCAGTAACAAATGCAGTCGCATGGTCTTGGACATTTGAGTAGCAGTACCTAGCTCTTTATGATTCTGTGTGACAGTGTAAATCTTTCTCATCTTGGAATGAACAGAAACTAAACTAAAAATGTACTTTCTCCCTCCTTCTCTCCCTTCCTCCCTCAAATGCAAGGAAACATTGTTTTGTTTCCTTTATTCTGTATGGTGAACCTTGAGTTTTTGATGGCAAGTCATGGGATAAGAAAATTGAAAACTACTGAAATAGATCCTTTAAG... | benign | 199,924 |
Does the variant impacting OTOGL (otogelin like) on chromosome 12, position 80255023, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTAGTAACATGGCTGATTTAAATTCTGGCTCAACCTCCTTTACCTGTCAGACAGCAGTAACAAATGCAGTCGCATGGTCTTGGACATTTGAGTAGCAGTACCTAGCTCTTTATGATTCTGTGTGACAGTGTAAATCTTTCTCATCTTGGAATGAACAGAAACTAAACTAAAAATGTACTTTCTCCCTCCTTCTCTCCCTTCCTCCCTCAAATGCAAGGAAACATTGTTTTGTTTCCTTTATTCTGTATGGTGAACCTTGAGTTTTTGATGGCAAGTCATGGGATAAGAAAATTGAAAACTACTGAAATAGATCCTTTAAG... | TTAGTAACATGGCTGATTTAAATTCTGGCTCAACCTCCTTTACCTGTCAGACAGCAGTAACAAATGCAGTCGCATGGTCTTGGACATTTGAGTAGCAGTACCTAGCTCTTTATGATTCTGTGTGACAGTGTAAATCTTTCTCATCTTGGAATGAACAGAAACTAAACTAAAAATGTACTTTCTCCCTCCTTCTCTCCCTTCCTCCCTCAAATGCAAGGAAACATTGTTTTGTTTCCTTTATTCTGTATGGTGAACCTTGAGTTTTTGATGGCAAGTCATGGGATAAGAAAATTGAAAACTACTGAAATAGATCCTTTAAG... | benign | 199,925 |
Classify the chromosome 12 variant at position 80255054 affecting gene OTOGL (otogelin like) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_84B'] | AACCTCCTTTACCTGTCAGACAGCAGTAACAAATGCAGTCGCATGGTCTTGGACATTTGAGTAGCAGTACCTAGCTCTTTATGATTCTGTGTGACAGTGTAAATCTTTCTCATCTTGGAATGAACAGAAACTAAACTAAAAATGTACTTTCTCCCTCCTTCTCTCCCTTCCTCCCTCAAATGCAAGGAAACATTGTTTTGTTTCCTTTATTCTGTATGGTGAACCTTGAGTTTTTGATGGCAAGTCATGGGATAAGAAAATTGAAAACTACTGAAATAGATCCTTTAAGGTAGCTACTGCCTGAGAGTCAGGTTGTCAGT... | AACCTCCTTTACCTGTCAGACAGCAGTAACAAATGCAGTCGCATGGTCTTGGACATTTGAGTAGCAGTACCTAGCTCTTTATGATTCTGTGTGACAGTGTAAATCTTTCTCATCTTGGAATGAACAGAAACTAAACTAAAAATGTACTTTCTCCCTCCTTCTCTCCCTTCCTCCCTCAAATGCAAGGAAACATTGTTTTGTTTCCTTTATTCTGTATGGTGAACCTTGAGTTTTTGATGGCAAGTCATGGGATAAGAAAATTGAAAACTACTGAAATAGATCCTTTAAGGTAGCTACTGCCTGAGAGTCAGGTTGTCAGT... | pathogenic | 199,926 |
Variant at chromosome 12, position 80302644, gene OTOGL (otogelin like): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_84B', 'Rare_genetic_deafness'] | TCTGAGCAAGGAACCGTCCTTGCTCAGAAGAGCATTGTGCTGTCTTAAATGCCTACCAATCTGGCCCATCTTGAGGATGAAAGTTCTACTGGGGCAATCAGGGAAGGCCTCACAGAGGAGGGAGCATATGGGTCACAATTGATGGGAATGAGGCCATTACGCCAAGATCTGGAGAACAGAGTTCCTAGCAGGAGGAACACCAAGCGCACAGGACTTGAGATGGGTAAAAGCTTAGTTAAATTTGAAGAACAGAAAGAGAGCCAGCATAGCTGAAGCTTAGTCAGTGAGGGTGGGGATTGGGAAGTGGAAGGATATGAGAT... | TCTGAGCAAGGAACCGTCCTTGCTCAGAAGAGCATTGTGCTGTCTTAAATGCCTACCAATCTGGCCCATCTTGAGGATGAAAGTTCTACTGGGGCAATCAGGGAAGGCCTCACAGAGGAGGGAGCATATGGGTCACAATTGATGGGAATGAGGCCATTACGCCAAGATCTGGAGAACAGAGTTCCTAGCAGGAGGAACACCAAGCGCACAGGACTTGAGATGGGTAAAAGCTTAGTTAAATTTGAAGAACAGAAAGAGAGCCAGCATAGCTGAAGCTTAGTCAGTGAGGGTGGGGATTGGGAAGTGGAAGGATATGAGAT... | pathogenic | 199,965 |
The chromosome 12, position 80318664 genetic variant in gene OTOGL (otogelin like): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic | TGTTTGGCTCCATGGAGTGGCAGGCAAATAAATTTACTATGATCAAAGTAATGGAGAAACGCATCAATGTGCCAAGGGGCGTCAGAATTTGTAAAAGCAATGCAACAGTGATAGACGTTGAAGGGGAATATAAAACTGTGATGATTGTGGAAAGTGATAATAAATAGAAAATAATTCTAAATGGTTATTCTTAATTTGTTTCATCCCAAATAAATTTCACAGCTATCATAAATTTACCTAGTCCTTTTTGGGCATTTATAGCTGGCATATTTCTACCTGTCTTTATTTGTTACATGCCAGACACTATGTTATTAAGATAC... | TGTTTGGCTCCATGGAGTGGCAGGCAAATAAATTTACTATGATCAAAGTAATGGAGAAACGCATCAATGTGCCAAGGGGCGTCAGAATTTGTAAAAGCAATGCAACAGTGATAGACGTTGAAGGGGAATATAAAACTGTGATGATTGTGGAAAGTGATAATAAATAGAAAATAATTCTAAATGGTTATTCTTAATTTGTTTCATCCCAAATAAATTTCACAGCTATCATAAATTTACCTAGTCCTTTTTGGGCATTTATAGCTGGCATATTTCTACCTGTCTTTATTTGTTACATGCCAGACACTATGTTATTAAGATAC... | pathogenic | 199,987 |
Located at chromosome 12 position 80329111, the variant affecting gene OTOGL (otogelin like)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Rare_genetic_deafness'] | CAATATCTGCATGAATTCTCTGTAGTATGTAGTAATATAATAATTAGAGTTGGTTGCACCTGAAGGATTATATTTTTTTCCTTTGATTTAGAATAAATTGAACTCTGAGCCTTAAATGGACATAGAAAAATGTACTCTCAGTCATTATTTTGTCTCCATTCCTTTAGAAGAAAAGCATTCTCATGTTCCCTCCTGTCTTTGGCCCACAACATGGCCTCTTGAAATTTGAGACTTTCCCTTGTCTTCTGTGCTCCAAACAAGGACCAGGGATTCTTACCAAGTCCAGACATCCTAGGGCTTGAAATAGAATCTTTTCAGGC... | CAATATCTGCATGAATTCTCTGTAGTATGTAGTAATATAATAATTAGAGTTGGTTGCACCTGAAGGATTATATTTTTTTCCTTTGATTTAGAATAAATTGAACTCTGAGCCTTAAATGGACATAGAAAAATGTACTCTCAGTCATTATTTTGTCTCCATTCCTTTAGAAGAAAAGCATTCTCATGTTCCCTCCTGTCTTTGGCCCACAACATGGCCTCTTGAAATTTGAGACTTTCCCTTGTCTTCTGTGCTCCAAACAAGGACCAGGGATTCTTACCAAGTCCAGACATCCTAGGGCTTGAAATAGAATCTTTTCAGGC... | pathogenic | 200,003 |
Is the chromosome 12, position 80336781 variant in OTOGL (otogelin like) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CTGAGAATTGATCACTGGATTTAGCAATGTGAGTTGCTGGTGACCTTGTTAAAAAGAGTTTCAGTAGAGTGGTAGGTCTAAAATCCTCTGGGTGGTTCAGATGTCTGTGAGGTCTATAGTTCTCTTGTAATTGCTTTCATTTTTCTGGCTAAATGAAAAGCAAGGTCAATACCTGAGAAGTGGTACAACTTTTACACAGAAAATTTTGGAAAATTGGACTCTTAAATTTTGAAGTGCTCACTTAAGAGTCTTACTATTTAGAAAATTAGTAATTTCTCTAAACCTTATTTTAAAAATCATATATTATATTGGAATGATAG... | CTGAGAATTGATCACTGGATTTAGCAATGTGAGTTGCTGGTGACCTTGTTAAAAAGAGTTTCAGTAGAGTGGTAGGTCTAAAATCCTCTGGGTGGTTCAGATGTCTGTGAGGTCTATAGTTCTCTTGTAATTGCTTTCATTTTTCTGGCTAAATGAAAAGCAAGGTCAATACCTGAGAAGTGGTACAACTTTTACACAGAAAATTTTGGAAAATTGGACTCTTAAATTTTGAAGTGCTCACTTAAGAGTCTTACTATTTAGAAAATTAGTAATTTCTCTAAACCTTATTTTAAAAATCATATATTATATTGGAATGATAG... | benign | 200,013 |
Located at chromosome 12 position 80336947, the variant affecting gene OTOGL (otogelin like)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic | CAATACCTGAGAAGTGGTACAACTTTTACACAGAAAATTTTGGAAAATTGGACTCTTAAATTTTGAAGTGCTCACTTAAGAGTCTTACTATTTAGAAAATTAGTAATTTCTCTAAACCTTATTTTAAAAATCATATATTATATTGGAATGATAGAAACTGATCCAAAAGATTTAGGGAGAAACAAATGAAAAAAGATACTTTATTAGTGTATGGTATGTAATAGGTGCTAAATAGTTGTTAATTTTTATTCTGAAATCCCTAGACATGCAGTAGAGAGTAGTGGTCAAGAGCATAGATTCCCGAGTAACAGTGCCTGGAC... | CAATACCTGAGAAGTGGTACAACTTTTACACAGAAAATTTTGGAAAATTGGACTCTTAAATTTTGAAGTGCTCACTTAAGAGTCTTACTATTTAGAAAATTAGTAATTTCTCTAAACCTTATTTTAAAAATCATATATTATATTGGAATGATAGAAACTGATCCAAAAGATTTAGGGAGAAACAAATGAAAAAAGATACTTTATTAGTGTATGGTATGTAATAGGTGCTAAATAGTTGTTAATTTTTATTCTGAAATCCCTAGACATGCAGTAGAGAGTAGTGGTCAAGAGCATAGATTCCCGAGTAACAGTGCCTGGAC... | pathogenic | 200,016 |
Evaluate the clinical significance of the mutation at chromosome 12, position 80352454 in gene OTOGL (otogelin like): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTTGGATATGTACGTAGTAGTAGGGTAGCTCAGTTATATAATATTACAATCTTTAATTTTTTGAGAAACCTCCATATTGTTTTCCACAATGGCTGTACTAATTTACATTCCACCAACAGTGTGCAAGGGTTATCTTTTCCCTACATCCTCGCCAATGATCGTTATTTTCTGTCTTTTTGATAATACCCATTCTAACGAGTGGGAGGAAATATCACATTGTGGTTTTAATTTGTACTTTTCTGATGATTAATGATAATAAACATTTCTCATGTACTTGTTGGACATTTGCACATCTTTTTTTGAGAAGTATCTATTCAGTT... | TTTGGATATGTACGTAGTAGTAGGGTAGCTCAGTTATATAATATTACAATCTTTAATTTTTTGAGAAACCTCCATATTGTTTTCCACAATGGCTGTACTAATTTACATTCCACCAACAGTGTGCAAGGGTTATCTTTTCCCTACATCCTCGCCAATGATCGTTATTTTCTGTCTTTTTGATAATACCCATTCTAACGAGTGGGAGGAAATATCACATTGTGGTTTTAATTTGTACTTTTCTGATGATTAATGATAATAAACATTTCTCATGTACTTGTTGGACATTTGCACATCTTTTTTTGAGAAGTATCTATTCAGTT... | benign | 200,028 |
Does the chromosome 12 mutation at position 80355770 within gene OTOGL (otogelin like) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | CTGCCCATAGTAACTGAGAAAAAGCATGGGAAATCAAGAATTAAGAGTGTGGATTATGGACTGAACTCAAAATCAACTTAATTCATGTATTAGTTGTTCATTTTTACTCCTATGAGTCTCAGGTTATGCATCTGGAAAGTGAGGAAAATAATAGTACTTATAAGGTTAGTGTGGGGCTACATAATTTAGTAGAAAGCATTTTGCATTTGACATGGTGCCTTGAGAAAGTAAGCATGTAAGAAATGGCAGATGGTACTATTATCTGGGTACTATGATTTGGATGTGATTTGTTCCCACCAAAACTCATGTTGAGGTTCGAT... | CTGCCCATAGTAACTGAGAAAAAGCATGGGAAATCAAGAATTAAGAGTGTGGATTATGGACTGAACTCAAAATCAACTTAATTCATGTATTAGTTGTTCATTTTTACTCCTATGAGTCTCAGGTTATGCATCTGGAAAGTGAGGAAAATAATAGTACTTATAAGGTTAGTGTGGGGCTACATAATTTAGTAGAAAGCATTTTGCATTTGACATGGTGCCTTGAGAAAGTAAGCATGTAAGAAATGGCAGATGGTACTATTATCTGGGTACTATGATTTGGATGTGATTTGTTCCCACCAAAACTCATGTTGAGGTTCGAT... | pathogenic | 200,037 |
Chromosome 12, position 80358708, gene OTOGL (otogelin like): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_84B'] | GGTATATATCTTTCATATATATGTATATATATATATGATTAAGAACTTTAAAATAAGTTATTTATTACTAAATTCAAAGAGAGGTAAACACTATGTCATTTTTTTATTATGCTATACAAATTTTCTAATGTAATTTTGTTTCTGCAGAATGTGACCCATTGAAATGCCCCAGTATTTCAACACCAGAATGCAGAGAAGATCAATTCATGATTCAAGTTCGACAGGAAGAACCTTGTTGTTTTTCCCCTTTTTGTGGTGAGTATTGTAGAGATAATTTCTTGGAAGAAGAGAAAGGATCTAGGAAAAAAATCTCTTATTTG... | GGTATATATCTTTCATATATATGTATATATATATATGATTAAGAACTTTAAAATAAGTTATTTATTACTAAATTCAAAGAGAGGTAAACACTATGTCATTTTTTTATTATGCTATACAAATTTTCTAATGTAATTTTGTTTCTGCAGAATGTGACCCATTGAAATGCCCCAGTATTTCAACACCAGAATGCAGAGAAGATCAATTCATGATTCAAGTTCGACAGGAAGAACCTTGTTGTTTTTCCCCTTTTTGTGGTGAGTATTGTAGAGATAATTTCTTGGAAGAAGAGAAAGGATCTAGGAAAAAAATCTCTTATTTG... | pathogenic | 200,049 |
Does the chromosome 12 mutation at position 80444830 within gene PTPRQ (protein tyrosine phosphatase receptor type Q) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGTTATATGCAATGTGCCCTGTTAGTTTTGTTAGAAAATGTACATTTTATTATATCCATTTTCAAATCGTTTCTGGTAGTGGGGTTTTAAAATGATAAATGAGGTTCAAAATTAATTCCAGCCTCCTTTCTTTTAGAAACAGTGTTAGATTGAATCTGCATCAGGCGTGTTTTCACATGCTTGGCTTCATAATCTCTCTTCCTCCCCCTATATTGTTTGCCTGGAATCTGCACTAAAGATAAGGCAGAGTGCAAACCTGACTCATTGGCAACCAATCAGAAGAACTTTATGTGGAAAACTCCCTTCGAGGAGGTACAGGC... | TGTTATATGCAATGTGCCCTGTTAGTTTTGTTAGAAAATGTACATTTTATTATATCCATTTTCAAATCGTTTCTGGTAGTGGGGTTTTAAAATGATAAATGAGGTTCAAAATTAATTCCAGCCTCCTTTCTTTTAGAAACAGTGTTAGATTGAATCTGCATCAGGCGTGTTTTCACATGCTTGGCTTCATAATCTCTCTTCCTCCCCCTATATTGTTTGCCTGGAATCTGCACTAAAGATAAGGCAGAGTGCAAACCTGACTCATTGGCAACCAATCAGAAGAACTTTATGTGGAAAACTCCCTTCGAGGAGGTACAGGC... | benign | 200,080 |
Clinically, how would you classify the variant at chromosome 12, position 88049161, gene CEP290: benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TACCACCATTTTTTAAGAGGTAAAACAGTGCTTCCCAGTGTGTATTGTGTGGGGCATCGATCATAACAGGTGTGCTTCAGAATTAAAGTGATAACTATATATCCCCTGCGTGGAAATTCATGTTGCACAGTAGTGCTCTCAGAGACATCTTGTACTAACTTAACTCAGCATCTCCCAGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATA... | TACCACCATTTTTTAAGAGGTAAAACAGTGCTTCCCAGTGTGTATTGTGTGGGGCATCGATCATAACAGGTGTGCTTCAGAATTAAAGTGATAACTATATATCCCCTGCGTGGAAATTCATGTTGCACAGTAGTGCTCTCAGAGACATCTTGTACTAACTTAACTCAGCATCTCCCAGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATA... | benign | 200,215 |
Is chromosome 12, position 88049279, gene CEP290 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis', 'Rod-cone_dystrophy'] | CATGTTGCACAGTAGTGCTCTCAGAGACATCTTGTACTAACTTAACTCAGCATCTCCCAGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAA... | CATGTTGCACAGTAGTGCTCTCAGAGACATCTTGTACTAACTTAACTCAGCATCTCCCAGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAA... | pathogenic | 200,216 |
Evaluate if the mutation on chromosome 12 at position 88049282 in CEP290 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | GTTGCACAGTAGTGCTCTCAGAGACATCTTGTACTAACTTAACTCAGCATCTCCCAGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAG... | GTTGCACAGTAGTGCTCTCAGAGACATCTTGTACTAACTTAACTCAGCATCTCCCAGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAG... | pathogenic | 200,217 |
Is the genetic variant on chromosome 12, position 88049282, gene CEP290, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | GTTGCACAGTAGTGCTCTCAGAGACATCTTGTACTAACTTAACTCAGCATCTCCCAGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAG... | GTTGCACAGTAGTGCTCTCAGAGACATCTTGTACTAACTTAACTCAGCATCTCCCAGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAG... | pathogenic | 200,218 |
A genetic variant at chromosome 12, position 88049291, affecting gene CEP290—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TAGTGCTCTCAGAGACATCTTGTACTAACTTAACTCAGCATCTCCCAGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCT... | TAGTGCTCTCAGAGACATCTTGTACTAACTTAACTCAGCATCTCCCAGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCT... | pathogenic | 200,219 |
Variant in gene CEP290, located at chromosome 12 position 88049291: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TAGTGCTCTCAGAGACATCTTGTACTAACTTAACTCAGCATCTCCCAGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCT... | TAGTGCTCTCAGAGACATCTTGTACTAACTTAACTCAGCATCTCCCAGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCT... | pathogenic | 200,220 |
Gene CEP290 variant at chromosome position 88049334 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | CCCAGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATT... | CCCAGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATT... | pathogenic | 200,222 |
Evaluate the clinical significance of the mutation at chromosome 12, position 88049337 in gene CEP290: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | AGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCAT... | AGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCAT... | pathogenic | 200,223 |
Chromosome 12, position 88049337, gene CEP290: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | AGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCAT... | AGACTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCAT... | pathogenic | 200,224 |
A mutation at chromosome position 88049340 on chromosome 12 in gene CEP290: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | CTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCATGCT... | CTTGAGTGTAGAATCTGTTGAGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCATGCT... | pathogenic | 200,226 |
Chromosome 12, position 88049360, gene CEP290: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | AGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCATGCTTTAACTATCATATCACCCTC... | AGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCATGCTTTAACTATCATATCACCCTC... | pathogenic | 200,227 |
Is the genetic change at chromosome 12, position 88049360, within gene CEP290 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | AGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCATGCTTTAACTATCATATCACCCTC... | AGTAAAAAGAGTGCCAAGGTAGCAGTTGATATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCATGCTTTAACTATCATATCACCCTC... | pathogenic | 200,228 |
Considering the variant on chromosome 12, location 88049389, involving gene CEP290, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Bardet-Biedl_syndrome_14'] | TATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCATGCTTTAACTATCATATCACCCTCCAAAAATAGTATCTTTCAGTTTTAGCCCT... | TATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCATGCTTTAACTATCATATCACCCTCCAAAAATAGTATCTTTCAGTTTTAGCCCT... | pathogenic | 200,229 |
Regarding the variant found on chromosome 12 at position 88049390 in gene CEP290: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | ATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCATGCTTTAACTATCATATCACCCTCCAAAAATAGTATCTTTCAGTTTTAGCCCTG... | ATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCATGCTTTAACTATCATATCACCCTCCAAAAATAGTATCTTTCAGTTTTAGCCCTG... | pathogenic | 200,230 |
Gene CEP290 variant at chromosome 12, position 88049390—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | ATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCATGCTTTAACTATCATATCACCCTCCAAAAATAGTATCTTTCAGTTTTAGCCCTG... | ATATACAGAATGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCATGCTTTAACTATCATATCACCCTCCAAAAATAGTATCTTTCAGTTTTAGCCCTG... | pathogenic | 200,231 |
Is the chromosome 12, position 88049400 variant in CEP290 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Abnormal_facial_shape', 'Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Global_developmental_delay', 'Hypotonia', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Micrognathia', 'Nephronophthisis', 'Retin... | TGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCATGCTTTAACTATCATATCACCCTCCAAAAATAGTATCTTTCAGTTTTAGCCCTGTCCTCTCCAT... | TGAATTATCTTATACTTTGTTCCCTTTCTGTCTCCTGGACTTGTCTGTTTGATTTCTCACAGGTACCTGAAATTCATAATATTCAAAACTGGGCCTAGTTGTAACTCTCTGAGTCCACATAATTCACTGAAGTAAAAACTTGGATATTAATTTTAACCCCTCTTTTCATTACTTCATACATCCAGTTATCAATTCCTAACAGTTCTAATCTATGTACTTCTTCCCAACTGTTAATTTTAATTTAAGCCAAGATTCATGCTTTAACTATCATATCACCCTCCAAAAATAGTATCTTTCAGTTTTAGCCCTGTCCTCTCCAT... | pathogenic | 200,232 |
Clinical significance of chromosome 12, position 88050386, gene CEP290 (centrosomal protein 290): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TGATATTAAGTGTTTGTTTAATCATTTTTTAAAAATAGATAATCAGAAATTTGTTAGACTCAAAGATATAATATTTGATGTATAAAATGCAAATAAAATTAGTTTATCATTATATTCTAATCTTGAATATTCTACCATATTTAAAAATATCTCAAGGTTTCTGTTCATTATGAAACATCAATATGTTTTCTACCATTTGTGAAGAAATGAATTTTCCAGTTTCAAGTACCTATTCAAAATTTTATTAAAAACCAGCAAATTAATTTTAATCTCTAGCCATAAAAACATAAGTAATAGTAAGCTCCTAAGCTTGGACAAAG... | TGATATTAAGTGTTTGTTTAATCATTTTTTAAAAATAGATAATCAGAAATTTGTTAGACTCAAAGATATAATATTTGATGTATAAAATGCAAATAAAATTAGTTTATCATTATATTCTAATCTTGAATATTCTACCATATTTAAAAATATCTCAAGGTTTCTGTTCATTATGAAACATCAATATGTTTTCTACCATTTGTGAAGAAATGAATTTTCCAGTTTCAAGTACCTATTCAAAATTTTATTAAAAACCAGCAAATTAATTTTAATCTCTAGCCATAAAAACATAAGTAATAGTAAGCTCCTAAGCTTGGACAAAG... | pathogenic | 200,236 |
Benign or pathogenic: chromosome 12, position 88050409, gene CEP290 (centrosomal protein 290) variant? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | ATTTTTTAAAAATAGATAATCAGAAATTTGTTAGACTCAAAGATATAATATTTGATGTATAAAATGCAAATAAAATTAGTTTATCATTATATTCTAATCTTGAATATTCTACCATATTTAAAAATATCTCAAGGTTTCTGTTCATTATGAAACATCAATATGTTTTCTACCATTTGTGAAGAAATGAATTTTCCAGTTTCAAGTACCTATTCAAAATTTTATTAAAAACCAGCAAATTAATTTTAATCTCTAGCCATAAAAACATAAGTAATAGTAAGCTCCTAAGCTTGGACAAAGGCTGGATTCTCTTCACTATAACT... | ATTTTTTAAAAATAGATAATCAGAAATTTGTTAGACTCAAAGATATAATATTTGATGTATAAAATGCAAATAAAATTAGTTTATCATTATATTCTAATCTTGAATATTCTACCATATTTAAAAATATCTCAAGGTTTCTGTTCATTATGAAACATCAATATGTTTTCTACCATTTGTGAAGAAATGAATTTTCCAGTTTCAAGTACCTATTCAAAATTTTATTAAAAACCAGCAAATTAATTTTAATCTCTAGCCATAAAAACATAAGTAATAGTAAGCTCCTAAGCTTGGACAAAGGCTGGATTCTCTTCACTATAACT... | pathogenic | 200,237 |
Chromosome 12, position 88053703, gene CEP290 (centrosomal protein 290): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Retinal_dystrophy', 'Senior-Loken_syndrome_6'] | TCCCTTAAGAAACTGAGGAATGGAAAGATTAGAGAACTATCTATGGCCATATGACCCTTAATGCACATGCACCTGATCTCTGATCTCAGAAGCTAAGCACTGTTGGGCCTGGTTAGTATATGGATGGAAGGAAAATTATAAAATTTTCCTCACATCAACAGCATTAATACTGTGTCTAGTGTACATACCAAGCTGGCTGCTATGAGACATATTTTGAGAGTATTTAATATGTACTTTTAGTTACCAAGACGTAGCATAGCATAGCGGGTTAAGGACTAGGAATGCCAAGGAGCTGTGGAGTTTCATACATTTAGATTTTA... | TCCCTTAAGAAACTGAGGAATGGAAAGATTAGAGAACTATCTATGGCCATATGACCCTTAATGCACATGCACCTGATCTCTGATCTCAGAAGCTAAGCACTGTTGGGCCTGGTTAGTATATGGATGGAAGGAAAATTATAAAATTTTCCTCACATCAACAGCATTAATACTGTGTCTAGTGTACATACCAAGCTGGCTGCTATGAGACATATTTTGAGAGTATTTAATATGTACTTTTAGTTACCAAGACGTAGCATAGCATAGCGGGTTAAGGACTAGGAATGCCAAGGAGCTGTGGAGTTTCATACATTTAGATTTTA... | pathogenic | 200,243 |
The mutation impacting CEP290 (centrosomal protein 290) on chromosome 12 at position 88054333: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | AGATTAATCATATTTTATAGAAGCAGAAACTTGGAAGCAAACTAAATATCCATCAAAACATAAATGGTTCGATGTGCTTATACATGCAATAATACACTATGGAATTATTAAATGGATGAGATAATTTATGAACAGACCTCAAAAGATGTCCATGATAAACTGTTAAAGGCAAATATGCTAGAAATGTGTATAGTATTAGTTCAATTTTATGTTACTTGCCAAGAAAATATATATACGTAAATGCAAACAAAGTATTCTCTATCCATAGTAGTTTTGGTCTATAAAGTTAGCCCAATTAGTGAATATCAAACCACTGCTGC... | AGATTAATCATATTTTATAGAAGCAGAAACTTGGAAGCAAACTAAATATCCATCAAAACATAAATGGTTCGATGTGCTTATACATGCAATAATACACTATGGAATTATTAAATGGATGAGATAATTTATGAACAGACCTCAAAAGATGTCCATGATAAACTGTTAAAGGCAAATATGCTAGAAATGTGTATAGTATTAGTTCAATTTTATGTTACTTGCCAAGAAAATATATATACGTAAATGCAAACAAAGTATTCTCTATCCATAGTAGTTTTGGTCTATAAAGTTAGCCCAATTAGTGAATATCAAACCACTGCTGC... | pathogenic | 200,247 |
A genetic alteration at chromosome 12, position 88054346, in gene CEP290 (centrosomal protein 290)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_ciliopathy', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TTTATAGAAGCAGAAACTTGGAAGCAAACTAAATATCCATCAAAACATAAATGGTTCGATGTGCTTATACATGCAATAATACACTATGGAATTATTAAATGGATGAGATAATTTATGAACAGACCTCAAAAGATGTCCATGATAAACTGTTAAAGGCAAATATGCTAGAAATGTGTATAGTATTAGTTCAATTTTATGTTACTTGCCAAGAAAATATATATACGTAAATGCAAACAAAGTATTCTCTATCCATAGTAGTTTTGGTCTATAAAGTTAGCCCAATTAGTGAATATCAAACCACTGCTGCTACGGGAAATATG... | TTTATAGAAGCAGAAACTTGGAAGCAAACTAAATATCCATCAAAACATAAATGGTTCGATGTGCTTATACATGCAATAATACACTATGGAATTATTAAATGGATGAGATAATTTATGAACAGACCTCAAAAGATGTCCATGATAAACTGTTAAAGGCAAATATGCTAGAAATGTGTATAGTATTAGTTCAATTTTATGTTACTTGCCAAGAAAATATATATACGTAAATGCAAACAAAGTATTCTCTATCCATAGTAGTTTTGGTCTATAAAGTTAGCCCAATTAGTGAATATCAAACCACTGCTGCTACGGGAAATATG... | pathogenic | 200,248 |
The mutation in gene CEP290 (centrosomal protein 290) at chromosome 12, position 88055608—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | ATGATCAGAAATCTGAGCCAAAAAAAAAAAAAAAAGGCAAACCCAAATTCAAAAACTTGGGGGTAGCTAACATGTTTTTTAAAATACATTACCAGGTATGGTGCTTTCAGCTCCACTTTGGTCCTTGTTAGCTTCTATCTGATGGATTAATTCTGCTTTCTCTTTATCCAGCTGATGATTAGCTAATCTAGAACACAATGATAATGTGTTAAAAAAATAAAGCAGATATTGCTTCATAAAATATATGGGCATTTCTTATGAACTAGTGATGTACAGTAATCAGAACAAGCTAGCCTTTATCGAAGTAAACATTTACTCTC... | ATGATCAGAAATCTGAGCCAAAAAAAAAAAAAAAAGGCAAACCCAAATTCAAAAACTTGGGGGTAGCTAACATGTTTTTTAAAATACATTACCAGGTATGGTGCTTTCAGCTCCACTTTGGTCCTTGTTAGCTTCTATCTGATGGATTAATTCTGCTTTCTCTTTATCCAGCTGATGATTAGCTAATCTAGAACACAATGATAATGTGTTAAAAAAATAAAGCAGATATTGCTTCATAAAATATATGGGCATTTCTTATGAACTAGTGATGTACAGTAATCAGAACAAGCTAGCCTTTATCGAAGTAAACATTTACTCTC... | pathogenic | 200,255 |
Located at chromosome 12 position 88055615, the variant affecting gene CEP290 (centrosomal protein 290)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | GAAATCTGAGCCAAAAAAAAAAAAAAAAGGCAAACCCAAATTCAAAAACTTGGGGGTAGCTAACATGTTTTTTAAAATACATTACCAGGTATGGTGCTTTCAGCTCCACTTTGGTCCTTGTTAGCTTCTATCTGATGGATTAATTCTGCTTTCTCTTTATCCAGCTGATGATTAGCTAATCTAGAACACAATGATAATGTGTTAAAAAAATAAAGCAGATATTGCTTCATAAAATATATGGGCATTTCTTATGAACTAGTGATGTACAGTAATCAGAACAAGCTAGCCTTTATCGAAGTAAACATTTACTCTCAATGCTA... | GAAATCTGAGCCAAAAAAAAAAAAAAAAGGCAAACCCAAATTCAAAAACTTGGGGGTAGCTAACATGTTTTTTAAAATACATTACCAGGTATGGTGCTTTCAGCTCCACTTTGGTCCTTGTTAGCTTCTATCTGATGGATTAATTCTGCTTTCTCTTTATCCAGCTGATGATTAGCTAATCTAGAACACAATGATAATGTGTTAAAAAAATAAAGCAGATATTGCTTCATAAAATATATGGGCATTTCTTATGAACTAGTGATGTACAGTAATCAGAACAAGCTAGCCTTTATCGAAGTAAACATTTACTCTCAATGCTA... | pathogenic | 200,256 |
Assess the variant on chromosome 12, position 88055615, impacting CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | GAAATCTGAGCCAAAAAAAAAAAAAAAAGGCAAACCCAAATTCAAAAACTTGGGGGTAGCTAACATGTTTTTTAAAATACATTACCAGGTATGGTGCTTTCAGCTCCACTTTGGTCCTTGTTAGCTTCTATCTGATGGATTAATTCTGCTTTCTCTTTATCCAGCTGATGATTAGCTAATCTAGAACACAATGATAATGTGTTAAAAAAATAAAGCAGATATTGCTTCATAAAATATATGGGCATTTCTTATGAACTAGTGATGTACAGTAATCAGAACAAGCTAGCCTTTATCGAAGTAAACATTTACTCTCAATGCTA... | GAAATCTGAGCCAAAAAAAAAAAAAAAAGGCAAACCCAAATTCAAAAACTTGGGGGTAGCTAACATGTTTTTTAAAATACATTACCAGGTATGGTGCTTTCAGCTCCACTTTGGTCCTTGTTAGCTTCTATCTGATGGATTAATTCTGCTTTCTCTTTATCCAGCTGATGATTAGCTAATCTAGAACACAATGATAATGTGTTAAAAAAATAAAGCAGATATTGCTTCATAAAATATATGGGCATTTCTTATGAACTAGTGATGTACAGTAATCAGAACAAGCTAGCCTTTATCGAAGTAAACATTTACTCTCAATGCTA... | pathogenic | 200,257 |
Clinical significance of chromosome 12, position 88055615, gene CEP290 (centrosomal protein 290): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | GAAATCTGAGCCAAAAAAAAAAAAAAAAGGCAAACCCAAATTCAAAAACTTGGGGGTAGCTAACATGTTTTTTAAAATACATTACCAGGTATGGTGCTTTCAGCTCCACTTTGGTCCTTGTTAGCTTCTATCTGATGGATTAATTCTGCTTTCTCTTTATCCAGCTGATGATTAGCTAATCTAGAACACAATGATAATGTGTTAAAAAAATAAAGCAGATATTGCTTCATAAAATATATGGGCATTTCTTATGAACTAGTGATGTACAGTAATCAGAACAAGCTAGCCTTTATCGAAGTAAACATTTACTCTCAATGCTA... | GAAATCTGAGCCAAAAAAAAAAAAAAAAGGCAAACCCAAATTCAAAAACTTGGGGGTAGCTAACATGTTTTTTAAAATACATTACCAGGTATGGTGCTTTCAGCTCCACTTTGGTCCTTGTTAGCTTCTATCTGATGGATTAATTCTGCTTTCTCTTTATCCAGCTGATGATTAGCTAATCTAGAACACAATGATAATGTGTTAAAAAAATAAAGCAGATATTGCTTCATAAAATATATGGGCATTTCTTATGAACTAGTGATGTACAGTAATCAGAACAAGCTAGCCTTTATCGAAGTAAACATTTACTCTCAATGCTA... | pathogenic | 200,258 |
Clinical classification of chromosome 12, position 88055666, gene CEP290 (centrosomal protein 290): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Retinal_dystrophy', 'Senior-Loke... | GGGGGTAGCTAACATGTTTTTTAAAATACATTACCAGGTATGGTGCTTTCAGCTCCACTTTGGTCCTTGTTAGCTTCTATCTGATGGATTAATTCTGCTTTCTCTTTATCCAGCTGATGATTAGCTAATCTAGAACACAATGATAATGTGTTAAAAAAATAAAGCAGATATTGCTTCATAAAATATATGGGCATTTCTTATGAACTAGTGATGTACAGTAATCAGAACAAGCTAGCCTTTATCGAAGTAAACATTTACTCTCAATGCTACAATGTCACCATTCTCAAACAAAAAGCCTGGAATACAAAAGCCTTCACGTT... | GGGGGTAGCTAACATGTTTTTTAAAATACATTACCAGGTATGGTGCTTTCAGCTCCACTTTGGTCCTTGTTAGCTTCTATCTGATGGATTAATTCTGCTTTCTCTTTATCCAGCTGATGATTAGCTAATCTAGAACACAATGATAATGTGTTAAAAAAATAAAGCAGATATTGCTTCATAAAATATATGGGCATTTCTTATGAACTAGTGATGTACAGTAATCAGAACAAGCTAGCCTTTATCGAAGTAAACATTTACTCTCAATGCTACAATGTCACCATTCTCAAACAAAAAGCCTGGAATACAAAAGCCTTCACGTT... | pathogenic | 200,261 |
Variant at chromosome 12, position 88055666, gene CEP290 (centrosomal protein 290): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | GGGGGTAGCTAACATGTTTTTTAAAATACATTACCAGGTATGGTGCTTTCAGCTCCACTTTGGTCCTTGTTAGCTTCTATCTGATGGATTAATTCTGCTTTCTCTTTATCCAGCTGATGATTAGCTAATCTAGAACACAATGATAATGTGTTAAAAAAATAAAGCAGATATTGCTTCATAAAATATATGGGCATTTCTTATGAACTAGTGATGTACAGTAATCAGAACAAGCTAGCCTTTATCGAAGTAAACATTTACTCTCAATGCTACAATGTCACCATTCTCAAACAAAAAGCCTGGAATACAAAAGCCTTCACGTT... | GGGGGTAGCTAACATGTTTTTTAAAATACATTACCAGGTATGGTGCTTTCAGCTCCACTTTGGTCCTTGTTAGCTTCTATCTGATGGATTAATTCTGCTTTCTCTTTATCCAGCTGATGATTAGCTAATCTAGAACACAATGATAATGTGTTAAAAAAATAAAGCAGATATTGCTTCATAAAATATATGGGCATTTCTTATGAACTAGTGATGTACAGTAATCAGAACAAGCTAGCCTTTATCGAAGTAAACATTTACTCTCAATGCTACAATGTCACCATTCTCAAACAAAAAGCCTGGAATACAAAAGCCTTCACGTT... | pathogenic | 200,262 |
Located at chromosome 12 position 88058846, the variant affecting gene CEP290 (centrosomal protein 290)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | CCCAAAAGAGATCTCTCTAAACTGCTTTATTGAGAAGGGTATATAATCCTCCCAGATTTAAACTTTAGTAACTTTTTTTCTTTTTCTTTCTCTTTTTTAATGGATTTAGGGAACCTAAATTTGAGGTCAAGGATCAAAACGAGCCTTCTCTCTGTCAAGAGATTTCTACTTAGACTTATGTCTTCTGCAATGTCTTCTGCAAATGATTTACTGAAGGCTTATGGTATGCTCAGTGACCTGTATCGTTCTCAGACGAAAAACACGTATATGATCTAAAATGCAAAGTCATCTTCAATTATGGTTAAATATCATCATCACCT... | CCCAAAAGAGATCTCTCTAAACTGCTTTATTGAGAAGGGTATATAATCCTCCCAGATTTAAACTTTAGTAACTTTTTTTCTTTTTCTTTCTCTTTTTTAATGGATTTAGGGAACCTAAATTTGAGGTCAAGGATCAAAACGAGCCTTCTCTCTGTCAAGAGATTTCTACTTAGACTTATGTCTTCTGCAATGTCTTCTGCAAATGATTTACTGAAGGCTTATGGTATGCTCAGTGACCTGTATCGTTCTCAGACGAAAAACACGTATATGATCTAAAATGCAAAGTCATCTTCAATTATGGTTAAATATCATCATCACCT... | pathogenic | 200,265 |
Assess the variant on chromosome 12, position 88059918, impacting CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | ATTCCAAATAGCAGACATGGAAGATGAAAACCTCAAAGACATCAAAGGGGACATTGGAGGTGCATGGACATAAGGAACTGTATGAGAATGTTGAGATAAAGATGAGTATGCCTTTTGAAATGGGGGCGGCAGATGTGCTAGATGGTAAAGGATACCACTTCATACAGGATGGCTTTAATGGGAAAAGACACAGGCAGGATCCCACTGGTCAATGACTTCCAGACTCCTTGAAGCAGCTGCTTAAAATTGGAAATGAGAATGACACAAAGAGCCTTTTACCTACTCATCACAGTCATGATGAACCACACATGATGATAGTG... | ATTCCAAATAGCAGACATGGAAGATGAAAACCTCAAAGACATCAAAGGGGACATTGGAGGTGCATGGACATAAGGAACTGTATGAGAATGTTGAGATAAAGATGAGTATGCCTTTTGAAATGGGGGCGGCAGATGTGCTAGATGGTAAAGGATACCACTTCATACAGGATGGCTTTAATGGGAAAAGACACAGGCAGGATCCCACTGGTCAATGACTTCCAGACTCCTTGAAGCAGCTGCTTAAAATTGGAAATGAGAATGACACAAAGAGCCTTTTACCTACTCATCACAGTCATGATGAACCACACATGATGATAGTG... | pathogenic | 200,276 |
Determine whether the variant at chromosome 12, position 88059938, in gene CEP290 (centrosomal protein 290) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Retinal_dystrophy', 'Senior-Loken_syndrome_6'] | AAGATGAAAACCTCAAAGACATCAAAGGGGACATTGGAGGTGCATGGACATAAGGAACTGTATGAGAATGTTGAGATAAAGATGAGTATGCCTTTTGAAATGGGGGCGGCAGATGTGCTAGATGGTAAAGGATACCACTTCATACAGGATGGCTTTAATGGGAAAAGACACAGGCAGGATCCCACTGGTCAATGACTTCCAGACTCCTTGAAGCAGCTGCTTAAAATTGGAAATGAGAATGACACAAAGAGCCTTTTACCTACTCATCACAGTCATGATGAACCACACATGATGATAGTGGCAACAGACTGAATGTTTAC... | AAGATGAAAACCTCAAAGACATCAAAGGGGACATTGGAGGTGCATGGACATAAGGAACTGTATGAGAATGTTGAGATAAAGATGAGTATGCCTTTTGAAATGGGGGCGGCAGATGTGCTAGATGGTAAAGGATACCACTTCATACAGGATGGCTTTAATGGGAAAAGACACAGGCAGGATCCCACTGGTCAATGACTTCCAGACTCCTTGAAGCAGCTGCTTAAAATTGGAAATGAGAATGACACAAAGAGCCTTTTACCTACTCATCACAGTCATGATGAACCACACATGATGATAGTGGCAACAGACTGAATGTTTAC... | pathogenic | 200,277 |
Chromosome 12, position 88060034, gene CEP290 (centrosomal protein 290): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GAAATGGGGGCGGCAGATGTGCTAGATGGTAAAGGATACCACTTCATACAGGATGGCTTTAATGGGAAAAGACACAGGCAGGATCCCACTGGTCAATGACTTCCAGACTCCTTGAAGCAGCTGCTTAAAATTGGAAATGAGAATGACACAAAGAGCCTTTTACCTACTCATCACAGTCATGATGAACCACACATGATGATAGTGGCAACAGACTGAATGTTTACTCATAAACTACCACTACCTCTTTCATAGCCACAAAAATTAGTTTCACAGGTTGGAATCCCATGTGTTCGGGGTGGGAGAAAATCAAGTACCAGAAA... | GAAATGGGGGCGGCAGATGTGCTAGATGGTAAAGGATACCACTTCATACAGGATGGCTTTAATGGGAAAAGACACAGGCAGGATCCCACTGGTCAATGACTTCCAGACTCCTTGAAGCAGCTGCTTAAAATTGGAAATGAGAATGACACAAAGAGCCTTTTACCTACTCATCACAGTCATGATGAACCACACATGATGATAGTGGCAACAGACTGAATGTTTACTCATAAACTACCACTACCTCTTTCATAGCCACAAAAATTAGTTTCACAGGTTGGAATCCCATGTGTTCGGGGTGGGAGAAAATCAAGTACCAGAAA... | benign | 200,278 |
Gene mutation in CEP290 (centrosomal protein 290) at chromosome 12, position 88060817—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CAGAATAGTGTTGTCTTTTAAAACAATGCCAAAATTTGAAATGATTAAACTTTGTACAAGTTTAAAACTCTGTTCCTACCTTGTAACCACAATGGATTTCCAGCTCTTACTGTCAGCACCTTCAAGCTGTGGACCTCTGCTTTCTGCAAACTGCAATCTCTTACCAGTCTCTTCTAGTTGAACTGTCATCTTCTCATTTAATATCTCTAAATTATTCTTTGCTATCCGTAATTTCTCTGCAGCATCAGTTTCCTATCATTAAATGCTAATTAGTATTTTATGAGAAAACATAATACTGTTCTCATAGATTCAGTGTATTC... | CAGAATAGTGTTGTCTTTTAAAACAATGCCAAAATTTGAAATGATTAAACTTTGTACAAGTTTAAAACTCTGTTCCTACCTTGTAACCACAATGGATTTCCAGCTCTTACTGTCAGCACCTTCAAGCTGTGGACCTCTGCTTTCTGCAAACTGCAATCTCTTACCAGTCTCTTCTAGTTGAACTGTCATCTTCTCATTTAATATCTCTAAATTATTCTTTGCTATCCGTAATTTCTCTGCAGCATCAGTTTCCTATCATTAAATGCTAATTAGTATTTTATGAGAAAACATAATACTGTTCTCATAGATTCAGTGTATTC... | benign | 200,279 |
The genetic variant at chromosome 12, position 88060835, affecting gene CEP290 (centrosomal protein 290): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Retinal_dystrophy', 'Senior-Loken_syndrome_6'] | TAAAACAATGCCAAAATTTGAAATGATTAAACTTTGTACAAGTTTAAAACTCTGTTCCTACCTTGTAACCACAATGGATTTCCAGCTCTTACTGTCAGCACCTTCAAGCTGTGGACCTCTGCTTTCTGCAAACTGCAATCTCTTACCAGTCTCTTCTAGTTGAACTGTCATCTTCTCATTTAATATCTCTAAATTATTCTTTGCTATCCGTAATTTCTCTGCAGCATCAGTTTCCTATCATTAAATGCTAATTAGTATTTTATGAGAAAACATAATACTGTTCTCATAGATTCAGTGTATTCAAAATTATCATTACAAAT... | TAAAACAATGCCAAAATTTGAAATGATTAAACTTTGTACAAGTTTAAAACTCTGTTCCTACCTTGTAACCACAATGGATTTCCAGCTCTTACTGTCAGCACCTTCAAGCTGTGGACCTCTGCTTTCTGCAAACTGCAATCTCTTACCAGTCTCTTCTAGTTGAACTGTCATCTTCTCATTTAATATCTCTAAATTATTCTTTGCTATCCGTAATTTCTCTGCAGCATCAGTTTCCTATCATTAAATGCTAATTAGTATTTTATGAGAAAACATAATACTGTTCTCATAGATTCAGTGTATTCAAAATTATCATTACAAAT... | pathogenic | 200,280 |
Variant on chromosome 12, at position 88060864, affecting CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | AACTTTGTACAAGTTTAAAACTCTGTTCCTACCTTGTAACCACAATGGATTTCCAGCTCTTACTGTCAGCACCTTCAAGCTGTGGACCTCTGCTTTCTGCAAACTGCAATCTCTTACCAGTCTCTTCTAGTTGAACTGTCATCTTCTCATTTAATATCTCTAAATTATTCTTTGCTATCCGTAATTTCTCTGCAGCATCAGTTTCCTATCATTAAATGCTAATTAGTATTTTATGAGAAAACATAATACTGTTCTCATAGATTCAGTGTATTCAAAATTATCATTACAAATTGGAAAACAAAAATAACCTGGGGCTCTAA... | AACTTTGTACAAGTTTAAAACTCTGTTCCTACCTTGTAACCACAATGGATTTCCAGCTCTTACTGTCAGCACCTTCAAGCTGTGGACCTCTGCTTTCTGCAAACTGCAATCTCTTACCAGTCTCTTCTAGTTGAACTGTCATCTTCTCATTTAATATCTCTAAATTATTCTTTGCTATCCGTAATTTCTCTGCAGCATCAGTTTCCTATCATTAAATGCTAATTAGTATTTTATGAGAAAACATAATACTGTTCTCATAGATTCAGTGTATTCAAAATTATCATTACAAATTGGAAAACAAAAATAACCTGGGGCTCTAA... | pathogenic | 200,281 |
Determine if the mutation at chromosome 12, position 88060896 in gene CEP290 (centrosomal protein 290) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | CTTGTAACCACAATGGATTTCCAGCTCTTACTGTCAGCACCTTCAAGCTGTGGACCTCTGCTTTCTGCAAACTGCAATCTCTTACCAGTCTCTTCTAGTTGAACTGTCATCTTCTCATTTAATATCTCTAAATTATTCTTTGCTATCCGTAATTTCTCTGCAGCATCAGTTTCCTATCATTAAATGCTAATTAGTATTTTATGAGAAAACATAATACTGTTCTCATAGATTCAGTGTATTCAAAATTATCATTACAAATTGGAAAACAAAAATAACCTGGGGCTCTAAATGCTGATTAAAATTTCAACAAATTCAACATC... | CTTGTAACCACAATGGATTTCCAGCTCTTACTGTCAGCACCTTCAAGCTGTGGACCTCTGCTTTCTGCAAACTGCAATCTCTTACCAGTCTCTTCTAGTTGAACTGTCATCTTCTCATTTAATATCTCTAAATTATTCTTTGCTATCCGTAATTTCTCTGCAGCATCAGTTTCCTATCATTAAATGCTAATTAGTATTTTATGAGAAAACATAATACTGTTCTCATAGATTCAGTGTATTCAAAATTATCATTACAAATTGGAAAACAAAAATAACCTGGGGCTCTAAATGCTGATTAAAATTTCAACAAATTCAACATC... | pathogenic | 200,283 |
Does the variant on chromosome 12 at location 88060904 affecting gene CEP290 (centrosomal protein 290) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | CACAATGGATTTCCAGCTCTTACTGTCAGCACCTTCAAGCTGTGGACCTCTGCTTTCTGCAAACTGCAATCTCTTACCAGTCTCTTCTAGTTGAACTGTCATCTTCTCATTTAATATCTCTAAATTATTCTTTGCTATCCGTAATTTCTCTGCAGCATCAGTTTCCTATCATTAAATGCTAATTAGTATTTTATGAGAAAACATAATACTGTTCTCATAGATTCAGTGTATTCAAAATTATCATTACAAATTGGAAAACAAAAATAACCTGGGGCTCTAAATGCTGATTAAAATTTCAACAAATTCAACATCTCTCCTTT... | CACAATGGATTTCCAGCTCTTACTGTCAGCACCTTCAAGCTGTGGACCTCTGCTTTCTGCAAACTGCAATCTCTTACCAGTCTCTTCTAGTTGAACTGTCATCTTCTCATTTAATATCTCTAAATTATTCTTTGCTATCCGTAATTTCTCTGCAGCATCAGTTTCCTATCATTAAATGCTAATTAGTATTTTATGAGAAAACATAATACTGTTCTCATAGATTCAGTGTATTCAAAATTATCATTACAAATTGGAAAACAAAAATAACCTGGGGCTCTAAATGCTGATTAAAATTTCAACAAATTCAACATCTCTCCTTT... | pathogenic | 200,284 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 88060954, gene CEP290 (centrosomal protein 290): what disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel_syndrome,_type_4', 'Senior-Loken_syndrome_6'] | TGCTTTCTGCAAACTGCAATCTCTTACCAGTCTCTTCTAGTTGAACTGTCATCTTCTCATTTAATATCTCTAAATTATTCTTTGCTATCCGTAATTTCTCTGCAGCATCAGTTTCCTATCATTAAATGCTAATTAGTATTTTATGAGAAAACATAATACTGTTCTCATAGATTCAGTGTATTCAAAATTATCATTACAAATTGGAAAACAAAAATAACCTGGGGCTCTAAATGCTGATTAAAATTTCAACAAATTCAACATCTCTCCTTTAAAGCAGCAATATGGCCAATAATAATTAGAACAACAGATCACGAAAATGA... | TGCTTTCTGCAAACTGCAATCTCTTACCAGTCTCTTCTAGTTGAACTGTCATCTTCTCATTTAATATCTCTAAATTATTCTTTGCTATCCGTAATTTCTCTGCAGCATCAGTTTCCTATCATTAAATGCTAATTAGTATTTTATGAGAAAACATAATACTGTTCTCATAGATTCAGTGTATTCAAAATTATCATTACAAATTGGAAAACAAAAATAACCTGGGGCTCTAAATGCTGATTAAAATTTCAACAAATTCAACATCTCTCCTTTAAAGCAGCAATATGGCCAATAATAATTAGAACAACAGATCACGAAAATGA... | pathogenic | 200,285 |
Is the chromosome 12, position 88062771 variant in CEP290 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TATTCATTAAAGCCATTTTATATAGTAATGAGCATATTTGAAATTTTCCTAAATAGTAACAAAACGTAAAATATTCCCCTAAAAATGATCACATTAAAAAAAATTACCTTCAATTTTTCATTTTCCTGCTCAATATTAGCCATTTTTTCACTAGTCAATATTCCTGATGCTTTTTTCAACTGTTCATTTTCTCTCTGGACTTTTTCAACTACTTTTTTCATTAAACCAATGGTTTTTTCCAGTTCTGGGATTGTCTTTCCACTTCTACCAGACTACGAAAGAATATGTTAAATCTTTAATCAAATATTTTAGTAAGTATA... | TATTCATTAAAGCCATTTTATATAGTAATGAGCATATTTGAAATTTTCCTAAATAGTAACAAAACGTAAAATATTCCCCTAAAAATGATCACATTAAAAAAAATTACCTTCAATTTTTCATTTTCCTGCTCAATATTAGCCATTTTTTCACTAGTCAATATTCCTGATGCTTTTTTCAACTGTTCATTTTCTCTCTGGACTTTTTCAACTACTTTTTTCATTAAACCAATGGTTTTTTCCAGTTCTGGGATTGTCTTTCCACTTCTACCAGACTACGAAAGAATATGTTAAATCTTTAATCAAATATTTTAGTAAGTATA... | pathogenic | 200,291 |
Variant at chromosome 12, position 88063962, gene CEP290 (centrosomal protein 290): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GATTACAGGCATGAGCCACCATGCCCAGCTAATTTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACTTCCAGTGATCTGCCCGCCTCGGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACTGCCCCCGGCCTGTTCTGAATATTTTTCTAATAACACATAATATTTTCACTGAATCCATCATATATTTAATATTACTACCAGAATGACTCTGCATTATGATTGCTTCCATTTATGACACTCAGCAACATGAAATCAACAGGAGCTTAAGTCTTTGGCCTTGACCTC... | GATTACAGGCATGAGCCACCATGCCCAGCTAATTTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACTTCCAGTGATCTGCCCGCCTCGGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACTGCCCCCGGCCTGTTCTGAATATTTTTCTAATAACACATAATATTTTCACTGAATCCATCATATATTTAATATTACTACCAGAATGACTCTGCATTATGATTGCTTCCATTTATGACACTCAGCAACATGAAATCAACAGGAGCTTAAGTCTTTGGCCTTGACCTC... | benign | 200,295 |
Regarding the variant at chromosome 12 and position 88064001, affecting gene CEP290 (centrosomal protein 290): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Meckel_syndrome,_type_4'] | ATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACTTCCAGTGATCTGCCCGCCTCGGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACTGCCCCCGGCCTGTTCTGAATATTTTTCTAATAACACATAATATTTTCACTGAATCCATCATATATTTAATATTACTACCAGAATGACTCTGCATTATGATTGCTTCCATTTATGACACTCAGCAACATGAAATCAACAGGAGCTTAAGTCTTTGGCCTTGACCTCATAAGCAACATTTATTCATTATATAAAATGAATACAAAA... | ATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACTTCCAGTGATCTGCCCGCCTCGGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACTGCCCCCGGCCTGTTCTGAATATTTTTCTAATAACACATAATATTTTCACTGAATCCATCATATATTTAATATTACTACCAGAATGACTCTGCATTATGATTGCTTCCATTTATGACACTCAGCAACATGAAATCAACAGGAGCTTAAGTCTTTGGCCTTGACCTCATAAGCAACATTTATTCATTATATAAAATGAATACAAAA... | pathogenic | 200,299 |
A genetic alteration at chromosome 12, position 88068571, in gene CEP290 (centrosomal protein 290)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | GACTCCTGGCCTCAAATGCTCCTGCTGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACTTTACCCAGCCTATGTGAAAAATATACTTAGGCACAGAGCCTAACACCATTTATCATTATCATTATTATTATTTTAGAGACAGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAATAGGGCAATGTAACATCAAACTCCTGGGCTCAAATGATCCTCCCACCACAGCCTCCCTAATAGCTAGGACTACAAATGTGTTCCACCACATCTGTCTAAATTTTTTGTAGAGACAGGGTCTGGCTATGCTGCCCAAGC... | GACTCCTGGCCTCAAATGCTCCTGCTGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACTTTACCCAGCCTATGTGAAAAATATACTTAGGCACAGAGCCTAACACCATTTATCATTATCATTATTATTATTTTAGAGACAGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAATAGGGCAATGTAACATCAAACTCCTGGGCTCAAATGATCCTCCCACCACAGCCTCCCTAATAGCTAGGACTACAAATGTGTTCCACCACATCTGTCTAAATTTTTTGTAGAGACAGGGTCTGGCTATGCTGCCCAAGC... | pathogenic | 200,304 |
For chromosome 12, position 88071332, gene CEP290 (centrosomal protein 290): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | CATAAAATTTAGAAATTCAAACTAGAGTTCAGAGAGAAGACAAATTCAATCTTTTCTATAAAGTATTCCAATTACTTCAGCCCGCATGAACTCACATTATTAGAGAAAAAAAAAATGGCCTCTAAAAGTAATAGCAGGTTTCAAAACTAAAAGTTGATCCTTGTAAAACCTGCAAAGAAGAATAAAAGTGTTTTGTTTTGAACATATGTTTAGACAAAGAAAAACATGGAGGGGAAATATCCACTGCTGGAACAAGAGAGTAACTATAAACAGATGTCAAGAGAAAGAAAAATTCCTCAATAATTTGTGTTTTCCCTATC... | CATAAAATTTAGAAATTCAAACTAGAGTTCAGAGAGAAGACAAATTCAATCTTTTCTATAAAGTATTCCAATTACTTCAGCCCGCATGAACTCACATTATTAGAGAAAAAAAAAATGGCCTCTAAAAGTAATAGCAGGTTTCAAAACTAAAAGTTGATCCTTGTAAAACCTGCAAAGAAGAATAAAAGTGTTTTGTTTTGAACATATGTTTAGACAAAGAAAAACATGGAGGGGAAATATCCACTGCTGGAACAAGAGAGTAACTATAAACAGATGTCAAGAGAAAGAAAAATTCCTCAATAATTTGTGTTTTCCCTATC... | pathogenic | 200,311 |
The mutation impacting CEP290 (centrosomal protein 290) on chromosome 12 at position 88071785: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | AATAGTAAACAGACATTAACACAGACTAATGAATGGTAATTTTTGAAGATAAATAGAAAATGTGTATTTACAAAGGGTAAATACTGTCATATCCAAATGTTGCAGGTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGAC... | AATAGTAAACAGACATTAACACAGACTAATGAATGGTAATTTTTGAAGATAAATAGAAAATGTGTATTTACAAAGGGTAAATACTGTCATATCCAAATGTTGCAGGTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGAC... | pathogenic | 200,316 |
Located at chromosome 12 position 88071818, the variant affecting gene CEP290 (centrosomal protein 290)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TGGTAATTTTTGAAGATAAATAGAAAATGTGTATTTACAAAGGGTAAATACTGTCATATCCAAATGTTGCAGGTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGT... | TGGTAATTTTTGAAGATAAATAGAAAATGTGTATTTACAAAGGGTAAATACTGTCATATCCAAATGTTGCAGGTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGT... | pathogenic | 200,318 |
Does the variant impacting CEP290 (centrosomal protein 290) on chromosome 12, position 88071832, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['CEP290-related_disorder', 'Joubert_syndrome_5'] | GATAAATAGAAAATGTGTATTTACAAAGGGTAAATACTGTCATATCCAAATGTTGCAGGTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGTAAAGCACACACACA... | GATAAATAGAAAATGTGTATTTACAAAGGGTAAATACTGTCATATCCAAATGTTGCAGGTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGTAAAGCACACACACA... | pathogenic | 200,319 |
Benign or pathogenic: chromosome 12, position 88071836, gene CEP290 (centrosomal protein 290) variant? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | AATAGAAAATGTGTATTTACAAAGGGTAAATACTGTCATATCCAAATGTTGCAGGTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGTAAAGCACACACACACAAA... | AATAGAAAATGTGTATTTACAAAGGGTAAATACTGTCATATCCAAATGTTGCAGGTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGTAAAGCACACACACACAAA... | pathogenic | 200,321 |
Considering the genetic mutation at chromosome 12, position 88071841, impacting CEP290 (centrosomal protein 290): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | AAAATGTGTATTTACAAAGGGTAAATACTGTCATATCCAAATGTTGCAGGTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGTAAAGCACACACACACAAAAATCT... | AAAATGTGTATTTACAAAGGGTAAATACTGTCATATCCAAATGTTGCAGGTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGTAAAGCACACACACACAAAAATCT... | pathogenic | 200,322 |
Considering the variant on chromosome 12, location 88071843, involving gene CEP290 (centrosomal protein 290), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | AATGTGTATTTACAAAGGGTAAATACTGTCATATCCAAATGTTGCAGGTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGTAAAGCACACACACACAAAAATCTCA... | AATGTGTATTTACAAAGGGTAAATACTGTCATATCCAAATGTTGCAGGTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGTAAAGCACACACACACAAAAATCTCA... | pathogenic | 200,323 |
Is chromosome 12, position 88071885, gene CEP290 (centrosomal protein 290) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TGCAGGTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGTAAAGCACACACACACAAAAATCTCAAAGGCTCTGCTAAGAAATGACATGGGGTGATGCAGGGCAAGG... | TGCAGGTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGTAAAGCACACACACACAAAAATCTCAAAGGCTCTGCTAAGAAATGACATGGGGTGATGCAGGGCAAGG... | pathogenic | 200,328 |
Is chromosome 12, position 88071890, gene CEP290 (centrosomal protein 290) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | GTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGTAAAGCACACACACACAAAAATCTCAAAGGCTCTGCTAAGAAATGACATGGGGTGATGCAGGGCAAGGGCATC... | GTAGATATTAGCCCTTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGTAAAGCACACACACACAAAAATCTCAAAGGCTCTGCTAAGAAATGACATGGGGTGATGCAGGGCAAGGGCATC... | pathogenic | 200,329 |
For chromosome 12, position 88071904, gene CEP290 (centrosomal protein 290): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGTAAAGCACACACACACAAAAATCTCAAAGGCTCTGCTAAGAAATGACATGGGGTGATGCAGGGCAAGGGCATCTGGTTCCAGGTACA... | TTTACAAAGATCAGTAATATGATCACAGATCATTTGTAAATGCAAAGAAGAAGAAATAGCAAATCACGTAAAACCAACTGAAGTTTACCTTGGAAGAAATGAGCGAAACAGAAGATTAAATAGTTTTAGCTGTTGTCAGAATAAAATTAAAAAGTTTTAAATGTTAACACATGATTTTATTTTGCTTTTCACGACCATGACTGTATCAGAAGATATAACTTGGAAAGAGATTGTAAAGCACACACACACAAAAATCTCAAAGGCTCTGCTAAGAAATGACATGGGGTGATGCAGGGCAAGGGCATCTGGTTCCAGGTACA... | pathogenic | 200,330 |
Chromosome 12, position 88077281, gene CEP290 (centrosomal protein 290): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Retinitis_pigmentosa', 'Senior-Loken_syndrome_6'] | GTTGTTATGGTTTGAGGGCAAGATAAACATATGGTTTGAGAACTTTTTCCAAAACAGGTTATGTTCTAGACTGAATGAGAAGAGGGAAGAAGACTGGATGATAAGGCAGTAGTTCTCTTTTCATGTTTTCTGTACCAAAAGCTTCGTATGCATAGATTTCAGAATAATATTATTATAACATTTAAAAATTTATATTCATTCAACAAATACTGAGCATCTACTATGTGCCAGCGATTGTTCTAGGTGCTGGGAATACAATAATAAATAAAATAGGCAAAGTTCCTGCCATCAAAGTTTATGGTCTAATAAAAAAAGAAAAA... | GTTGTTATGGTTTGAGGGCAAGATAAACATATGGTTTGAGAACTTTTTCCAAAACAGGTTATGTTCTAGACTGAATGAGAAGAGGGAAGAAGACTGGATGATAAGGCAGTAGTTCTCTTTTCATGTTTTCTGTACCAAAAGCTTCGTATGCATAGATTTCAGAATAATATTATTATAACATTTAAAAATTTATATTCATTCAACAAATACTGAGCATCTACTATGTGCCAGCGATTGTTCTAGGTGCTGGGAATACAATAATAAATAAAATAGGCAAAGTTCCTGCCATCAAAGTTTATGGTCTAATAAAAAAAGAAAAA... | pathogenic | 200,338 |
Determine whether the variant at chromosome 12, position 88077316, in gene CEP290 (centrosomal protein 290) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TTGAGAACTTTTTCCAAAACAGGTTATGTTCTAGACTGAATGAGAAGAGGGAAGAAGACTGGATGATAAGGCAGTAGTTCTCTTTTCATGTTTTCTGTACCAAAAGCTTCGTATGCATAGATTTCAGAATAATATTATTATAACATTTAAAAATTTATATTCATTCAACAAATACTGAGCATCTACTATGTGCCAGCGATTGTTCTAGGTGCTGGGAATACAATAATAAATAAAATAGGCAAAGTTCCTGCCATCAAAGTTTATGGTCTAATAAAAAAAGAAAAAAAAAAGATGAACAAAAGACAAGTACATGTCTAGTA... | TTGAGAACTTTTTCCAAAACAGGTTATGTTCTAGACTGAATGAGAAGAGGGAAGAAGACTGGATGATAAGGCAGTAGTTCTCTTTTCATGTTTTCTGTACCAAAAGCTTCGTATGCATAGATTTCAGAATAATATTATTATAACATTTAAAAATTTATATTCATTCAACAAATACTGAGCATCTACTATGTGCCAGCGATTGTTCTAGGTGCTGGGAATACAATAATAAATAAAATAGGCAAAGTTCCTGCCATCAAAGTTTATGGTCTAATAAAAAAAGAAAAAAAAAAGATGAACAAAAGACAAGTACATGTCTAGTA... | pathogenic | 200,339 |
Located at chromosome 12 position 88077316, the variant affecting gene CEP290 (centrosomal protein 290)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TTGAGAACTTTTTCCAAAACAGGTTATGTTCTAGACTGAATGAGAAGAGGGAAGAAGACTGGATGATAAGGCAGTAGTTCTCTTTTCATGTTTTCTGTACCAAAAGCTTCGTATGCATAGATTTCAGAATAATATTATTATAACATTTAAAAATTTATATTCATTCAACAAATACTGAGCATCTACTATGTGCCAGCGATTGTTCTAGGTGCTGGGAATACAATAATAAATAAAATAGGCAAAGTTCCTGCCATCAAAGTTTATGGTCTAATAAAAAAAGAAAAAAAAAAGATGAACAAAAGACAAGTACATGTCTAGTA... | TTGAGAACTTTTTCCAAAACAGGTTATGTTCTAGACTGAATGAGAAGAGGGAAGAAGACTGGATGATAAGGCAGTAGTTCTCTTTTCATGTTTTCTGTACCAAAAGCTTCGTATGCATAGATTTCAGAATAATATTATTATAACATTTAAAAATTTATATTCATTCAACAAATACTGAGCATCTACTATGTGCCAGCGATTGTTCTAGGTGCTGGGAATACAATAATAAATAAAATAGGCAAAGTTCCTGCCATCAAAGTTTATGGTCTAATAAAAAAAGAAAAAAAAAAGATGAACAAAAGACAAGTACATGTCTAGTA... | pathogenic | 200,340 |
Gene CEP290 (centrosomal protein 290) variant at chromosome 12, position 88077702—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | GGTAGACTACAAATTCTGTTTACAGAGAAAAGGGTACTAAAATTTCCAAACAATATGAAAGCATTTCTTGAGTATAAATTAGAAATGCCCAAGCAATGAACCTGAAAAAATATTCTCACTAGATTCCTGAATGCCAATTTTAATACTGGGCATAGACCCCTGTTTTCTCTTTCTAGTTAGTAGTAATATCTTATACTGCTATGGATGTGATGGCTTACAAAAGACTTCCGCATATCATATCATTTTATGTAAAATAATCCTGAGAAACTGGCAATACAGATAGTATTATTCCCACTTTAAGGAGGAATAAACTGAATAAA... | GGTAGACTACAAATTCTGTTTACAGAGAAAAGGGTACTAAAATTTCCAAACAATATGAAAGCATTTCTTGAGTATAAATTAGAAATGCCCAAGCAATGAACCTGAAAAAATATTCTCACTAGATTCCTGAATGCCAATTTTAATACTGGGCATAGACCCCTGTTTTCTCTTTCTAGTTAGTAGTAATATCTTATACTGCTATGGATGTGATGGCTTACAAAAGACTTCCGCATATCATATCATTTTATGTAAAATAATCCTGAGAAACTGGCAATACAGATAGTATTATTCCCACTTTAAGGAGGAATAAACTGAATAAA... | pathogenic | 200,346 |
Regarding the variant found on chromosome 12 at position 88077764 in gene CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | ATTTCTTGAGTATAAATTAGAAATGCCCAAGCAATGAACCTGAAAAAATATTCTCACTAGATTCCTGAATGCCAATTTTAATACTGGGCATAGACCCCTGTTTTCTCTTTCTAGTTAGTAGTAATATCTTATACTGCTATGGATGTGATGGCTTACAAAAGACTTCCGCATATCATATCATTTTATGTAAAATAATCCTGAGAAACTGGCAATACAGATAGTATTATTCCCACTTTAAGGAGGAATAAACTGAATAAATAAACTAAATAAACTGTAGCATAGAAGAGTCCAGGCAAAGCCACAAGGCTCTTAAAACATTC... | ATTTCTTGAGTATAAATTAGAAATGCCCAAGCAATGAACCTGAAAAAATATTCTCACTAGATTCCTGAATGCCAATTTTAATACTGGGCATAGACCCCTGTTTTCTCTTTCTAGTTAGTAGTAATATCTTATACTGCTATGGATGTGATGGCTTACAAAAGACTTCCGCATATCATATCATTTTATGTAAAATAATCCTGAGAAACTGGCAATACAGATAGTATTATTCCCACTTTAAGGAGGAATAAACTGAATAAATAAACTAAATAAACTGTAGCATAGAAGAGTCCAGGCAAAGCCACAAGGCTCTTAAAACATTC... | pathogenic | 200,349 |
Considering the variant on chromosome 12, location 88077770, involving gene CEP290 (centrosomal protein 290), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TGAGTATAAATTAGAAATGCCCAAGCAATGAACCTGAAAAAATATTCTCACTAGATTCCTGAATGCCAATTTTAATACTGGGCATAGACCCCTGTTTTCTCTTTCTAGTTAGTAGTAATATCTTATACTGCTATGGATGTGATGGCTTACAAAAGACTTCCGCATATCATATCATTTTATGTAAAATAATCCTGAGAAACTGGCAATACAGATAGTATTATTCCCACTTTAAGGAGGAATAAACTGAATAAATAAACTAAATAAACTGTAGCATAGAAGAGTCCAGGCAAAGCCACAAGGCTCTTAAAACATTCTGATAG... | TGAGTATAAATTAGAAATGCCCAAGCAATGAACCTGAAAAAATATTCTCACTAGATTCCTGAATGCCAATTTTAATACTGGGCATAGACCCCTGTTTTCTCTTTCTAGTTAGTAGTAATATCTTATACTGCTATGGATGTGATGGCTTACAAAAGACTTCCGCATATCATATCATTTTATGTAAAATAATCCTGAGAAACTGGCAATACAGATAGTATTATTCCCACTTTAAGGAGGAATAAACTGAATAAATAAACTAAATAAACTGTAGCATAGAAGAGTCCAGGCAAAGCCACAAGGCTCTTAAAACATTCTGATAG... | pathogenic | 200,350 |
The mutation in gene CEP290 (centrosomal protein 290) at chromosome 12, position 88077789—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Abnormality_of_the_kidney', 'Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Cerebellar_cyst', 'Cerebellar_vermis_hypoplasia', 'Familial_aplasia_of_the_vermis', 'Hyperechogenic_kidneys', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', '... | CCCAAGCAATGAACCTGAAAAAATATTCTCACTAGATTCCTGAATGCCAATTTTAATACTGGGCATAGACCCCTGTTTTCTCTTTCTAGTTAGTAGTAATATCTTATACTGCTATGGATGTGATGGCTTACAAAAGACTTCCGCATATCATATCATTTTATGTAAAATAATCCTGAGAAACTGGCAATACAGATAGTATTATTCCCACTTTAAGGAGGAATAAACTGAATAAATAAACTAAATAAACTGTAGCATAGAAGAGTCCAGGCAAAGCCACAAGGCTCTTAAAACATTCTGATAGGAATCAGGTTAGAAACTGG... | CCCAAGCAATGAACCTGAAAAAATATTCTCACTAGATTCCTGAATGCCAATTTTAATACTGGGCATAGACCCCTGTTTTCTCTTTCTAGTTAGTAGTAATATCTTATACTGCTATGGATGTGATGGCTTACAAAAGACTTCCGCATATCATATCATTTTATGTAAAATAATCCTGAGAAACTGGCAATACAGATAGTATTATTCCCACTTTAAGGAGGAATAAACTGAATAAATAAACTAAATAAACTGTAGCATAGAAGAGTCCAGGCAAAGCCACAAGGCTCTTAAAACATTCTGATAGGAATCAGGTTAGAAACTGG... | pathogenic | 200,352 |
Regarding the variant found on chromosome 12 at position 88077834 in gene CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | GCCAATTTTAATACTGGGCATAGACCCCTGTTTTCTCTTTCTAGTTAGTAGTAATATCTTATACTGCTATGGATGTGATGGCTTACAAAAGACTTCCGCATATCATATCATTTTATGTAAAATAATCCTGAGAAACTGGCAATACAGATAGTATTATTCCCACTTTAAGGAGGAATAAACTGAATAAATAAACTAAATAAACTGTAGCATAGAAGAGTCCAGGCAAAGCCACAAGGCTCTTAAAACATTCTGATAGGAATCAGGTTAGAAACTGGTATAGAAACACACCAGTTAGGAACAAACATACCAGTTTCTAACCT... | GCCAATTTTAATACTGGGCATAGACCCCTGTTTTCTCTTTCTAGTTAGTAGTAATATCTTATACTGCTATGGATGTGATGGCTTACAAAAGACTTCCGCATATCATATCATTTTATGTAAAATAATCCTGAGAAACTGGCAATACAGATAGTATTATTCCCACTTTAAGGAGGAATAAACTGAATAAATAAACTAAATAAACTGTAGCATAGAAGAGTCCAGGCAAAGCCACAAGGCTCTTAAAACATTCTGATAGGAATCAGGTTAGAAACTGGTATAGAAACACACCAGTTAGGAACAAACATACCAGTTTCTAACCT... | pathogenic | 200,353 |
Determine whether the variant at chromosome 12, position 88077847, in gene CEP290 (centrosomal protein 290) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | CTGGGCATAGACCCCTGTTTTCTCTTTCTAGTTAGTAGTAATATCTTATACTGCTATGGATGTGATGGCTTACAAAAGACTTCCGCATATCATATCATTTTATGTAAAATAATCCTGAGAAACTGGCAATACAGATAGTATTATTCCCACTTTAAGGAGGAATAAACTGAATAAATAAACTAAATAAACTGTAGCATAGAAGAGTCCAGGCAAAGCCACAAGGCTCTTAAAACATTCTGATAGGAATCAGGTTAGAAACTGGTATAGAAACACACCAGTTAGGAACAAACATACCAGTTTCTAACCTATCCCCATTTAGG... | CTGGGCATAGACCCCTGTTTTCTCTTTCTAGTTAGTAGTAATATCTTATACTGCTATGGATGTGATGGCTTACAAAAGACTTCCGCATATCATATCATTTTATGTAAAATAATCCTGAGAAACTGGCAATACAGATAGTATTATTCCCACTTTAAGGAGGAATAAACTGAATAAATAAACTAAATAAACTGTAGCATAGAAGAGTCCAGGCAAAGCCACAAGGCTCTTAAAACATTCTGATAGGAATCAGGTTAGAAACTGGTATAGAAACACACCAGTTAGGAACAAACATACCAGTTTCTAACCTATCCCCATTTAGG... | pathogenic | 200,354 |
Variant on chromosome 12, at position 88077860, affecting CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | CCTGTTTTCTCTTTCTAGTTAGTAGTAATATCTTATACTGCTATGGATGTGATGGCTTACAAAAGACTTCCGCATATCATATCATTTTATGTAAAATAATCCTGAGAAACTGGCAATACAGATAGTATTATTCCCACTTTAAGGAGGAATAAACTGAATAAATAAACTAAATAAACTGTAGCATAGAAGAGTCCAGGCAAAGCCACAAGGCTCTTAAAACATTCTGATAGGAATCAGGTTAGAAACTGGTATAGAAACACACCAGTTAGGAACAAACATACCAGTTTCTAACCTATCCCCATTTAGGGATAAGATCAGGC... | CCTGTTTTCTCTTTCTAGTTAGTAGTAATATCTTATACTGCTATGGATGTGATGGCTTACAAAAGACTTCCGCATATCATATCATTTTATGTAAAATAATCCTGAGAAACTGGCAATACAGATAGTATTATTCCCACTTTAAGGAGGAATAAACTGAATAAATAAACTAAATAAACTGTAGCATAGAAGAGTCCAGGCAAAGCCACAAGGCTCTTAAAACATTCTGATAGGAATCAGGTTAGAAACTGGTATAGAAACACACCAGTTAGGAACAAACATACCAGTTTCTAACCTATCCCCATTTAGGGATAAGATCAGGC... | pathogenic | 200,355 |
Variant on chromosome 12, at position 88079217, affecting CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | AACTTACTCTGTCACTACCTTAAGCATATAAGTCAGTATGTTTCTTCACATACCTTTTCTTTCATAGGTTTTAGGTCTACTTCCTCCACCTTTCCCTCTAATTGGTTCTCTAGTTTTTTAACTTTCCTTTGGAGTTCTTCAATTAGACTTTGTTTATTATCTGTCAGGGGTTTGCCCTAAAAAATAAAATGTAACTTTATATTTTTACAAATAAATGTAAAACAAAATAGACAGTAAATATTTCAATTATATAATAGCAACTTTCTGAAGCTATCACTGACCATACTTTCTAAATGACACTTAATACATAAGATAATCTG... | AACTTACTCTGTCACTACCTTAAGCATATAAGTCAGTATGTTTCTTCACATACCTTTTCTTTCATAGGTTTTAGGTCTACTTCCTCCACCTTTCCCTCTAATTGGTTCTCTAGTTTTTTAACTTTCCTTTGGAGTTCTTCAATTAGACTTTGTTTATTATCTGTCAGGGGTTTGCCCTAAAAAATAAAATGTAACTTTATATTTTTACAAATAAATGTAAAACAAAATAGACAGTAAATATTTCAATTATATAATAGCAACTTTCTGAAGCTATCACTGACCATACTTTCTAAATGACACTTAATACATAAGATAATCTG... | pathogenic | 200,362 |
Evaluate if the mutation on chromosome 12 at position 88079242 in CEP290 (centrosomal protein 290) is benign or pathogenic. Disease name(s) if pathogenic? | benign | ATATAAGTCAGTATGTTTCTTCACATACCTTTTCTTTCATAGGTTTTAGGTCTACTTCCTCCACCTTTCCCTCTAATTGGTTCTCTAGTTTTTTAACTTTCCTTTGGAGTTCTTCAATTAGACTTTGTTTATTATCTGTCAGGGGTTTGCCCTAAAAAATAAAATGTAACTTTATATTTTTACAAATAAATGTAAAACAAAATAGACAGTAAATATTTCAATTATATAATAGCAACTTTCTGAAGCTATCACTGACCATACTTTCTAAATGACACTTAATACATAAGATAATCTGGTAGCTGCTTCTGCATTTTAATACA... | ATATAAGTCAGTATGTTTCTTCACATACCTTTTCTTTCATAGGTTTTAGGTCTACTTCCTCCACCTTTCCCTCTAATTGGTTCTCTAGTTTTTTAACTTTCCTTTGGAGTTCTTCAATTAGACTTTGTTTATTATCTGTCAGGGGTTTGCCCTAAAAAATAAAATGTAACTTTATATTTTTACAAATAAATGTAAAACAAAATAGACAGTAAATATTTCAATTATATAATAGCAACTTTCTGAAGCTATCACTGACCATACTTTCTAAATGACACTTAATACATAAGATAATCTGGTAGCTGCTTCTGCATTTTAATACA... | benign | 200,363 |
Determine if the mutation at chromosome 12, position 88080244 in gene CEP290 (centrosomal protein 290) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | CGTTTCATTTTGGCTGAATTAATTAAACAAACAAGTATATAACAATATATATGACAACGTTTTAAACACTATGAAGCATAAGAGTAGTACAGAACAAATCTCTGACTTGAAGTAATTTCTAACCTAGTTTACAAAGATAAGATATAAAAGGGTAACTTACAATACTAGACAATATGTATGCCACTAGAAAGGAGTTCCTAGCTGTCCTATGGTGAGAATGATGGGGACACACTGTATGTTTCCATCTATAACATATTCTGGAAAAGGTGAAACTATGGAGACAGTAAAAAGATCACTGGTTGCCAGGGGTTTGGTGAGGT... | CGTTTCATTTTGGCTGAATTAATTAAACAAACAAGTATATAACAATATATATGACAACGTTTTAAACACTATGAAGCATAAGAGTAGTACAGAACAAATCTCTGACTTGAAGTAATTTCTAACCTAGTTTACAAAGATAAGATATAAAAGGGTAACTTACAATACTAGACAATATGTATGCCACTAGAAAGGAGTTCCTAGCTGTCCTATGGTGAGAATGATGGGGACACACTGTATGTTTCCATCTATAACATATTCTGGAAAAGGTGAAACTATGGAGACAGTAAAAAGATCACTGGTTGCCAGGGGTTTGGTGAGGT... | pathogenic | 200,368 |
Evaluate the clinical significance of the mutation at chromosome 12, position 88080268 in gene CEP290 (centrosomal protein 290): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | AAACAAACAAGTATATAACAATATATATGACAACGTTTTAAACACTATGAAGCATAAGAGTAGTACAGAACAAATCTCTGACTTGAAGTAATTTCTAACCTAGTTTACAAAGATAAGATATAAAAGGGTAACTTACAATACTAGACAATATGTATGCCACTAGAAAGGAGTTCCTAGCTGTCCTATGGTGAGAATGATGGGGACACACTGTATGTTTCCATCTATAACATATTCTGGAAAAGGTGAAACTATGGAGACAGTAAAAAGATCACTGGTTGCCAGGGGTTTGGTGAGGTGCAGAGGAAGGAATGAAGAAGAGA... | AAACAAACAAGTATATAACAATATATATGACAACGTTTTAAACACTATGAAGCATAAGAGTAGTACAGAACAAATCTCTGACTTGAAGTAATTTCTAACCTAGTTTACAAAGATAAGATATAAAAGGGTAACTTACAATACTAGACAATATGTATGCCACTAGAAAGGAGTTCCTAGCTGTCCTATGGTGAGAATGATGGGGACACACTGTATGTTTCCATCTATAACATATTCTGGAAAAGGTGAAACTATGGAGACAGTAAAAAGATCACTGGTTGCCAGGGGTTTGGTGAGGTGCAGAGGAAGGAATGAAGAAGAGA... | pathogenic | 200,370 |
The mutation in gene CEP290 (centrosomal protein 290) at chromosome 12, position 88080302—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | GTTTTAAACACTATGAAGCATAAGAGTAGTACAGAACAAATCTCTGACTTGAAGTAATTTCTAACCTAGTTTACAAAGATAAGATATAAAAGGGTAACTTACAATACTAGACAATATGTATGCCACTAGAAAGGAGTTCCTAGCTGTCCTATGGTGAGAATGATGGGGACACACTGTATGTTTCCATCTATAACATATTCTGGAAAAGGTGAAACTATGGAGACAGTAAAAAGATCACTGGTTGCCAGGGGTTTGGTGAGGTGCAGAGGAAGGAATGAAGAAGAGAGGCACAGAAGATTTTTAGGGCAGTGAAAATACCC... | GTTTTAAACACTATGAAGCATAAGAGTAGTACAGAACAAATCTCTGACTTGAAGTAATTTCTAACCTAGTTTACAAAGATAAGATATAAAAGGGTAACTTACAATACTAGACAATATGTATGCCACTAGAAAGGAGTTCCTAGCTGTCCTATGGTGAGAATGATGGGGACACACTGTATGTTTCCATCTATAACATATTCTGGAAAAGGTGAAACTATGGAGACAGTAAAAAGATCACTGGTTGCCAGGGGTTTGGTGAGGTGCAGAGGAAGGAATGAAGAAGAGAGGCACAGAAGATTTTTAGGGCAGTGAAAATACCC... | pathogenic | 200,372 |
Variant on chromosome 12, at position 88080377, affecting CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | AAGATAAGATATAAAAGGGTAACTTACAATACTAGACAATATGTATGCCACTAGAAAGGAGTTCCTAGCTGTCCTATGGTGAGAATGATGGGGACACACTGTATGTTTCCATCTATAACATATTCTGGAAAAGGTGAAACTATGGAGACAGTAAAAAGATCACTGGTTGCCAGGGGTTTGGTGAGGTGCAGAGGAAGGAATGAAGAAGAGAGGCACAGAAGATTTTTAGGGCAGTGAAAATACCCTGTATAATACTATAATGATGGATACATATCATTATACATTTGTCTAAACACACAGAGTGTAAAATACCAAGAGCT... | AAGATAAGATATAAAAGGGTAACTTACAATACTAGACAATATGTATGCCACTAGAAAGGAGTTCCTAGCTGTCCTATGGTGAGAATGATGGGGACACACTGTATGTTTCCATCTATAACATATTCTGGAAAAGGTGAAACTATGGAGACAGTAAAAAGATCACTGGTTGCCAGGGGTTTGGTGAGGTGCAGAGGAAGGAATGAAGAAGAGAGGCACAGAAGATTTTTAGGGCAGTGAAAATACCCTGTATAATACTATAATGATGGATACATATCATTATACATTTGTCTAAACACACAGAGTGTAAAATACCAAGAGCT... | pathogenic | 200,374 |
For chromosome 12, position 88080413, gene CEP290 (centrosomal protein 290): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CAATATGTATGCCACTAGAAAGGAGTTCCTAGCTGTCCTATGGTGAGAATGATGGGGACACACTGTATGTTTCCATCTATAACATATTCTGGAAAAGGTGAAACTATGGAGACAGTAAAAAGATCACTGGTTGCCAGGGGTTTGGTGAGGTGCAGAGGAAGGAATGAAGAAGAGAGGCACAGAAGATTTTTAGGGCAGTGAAAATACCCTGTATAATACTATAATGATGGATACATATCATTATACATTTGTCTAAACACACAGAGTGTAAAATACCAAGAGCTAAAATAGAGGTAAACTTGGACTTTGGGTGATTATGA... | CAATATGTATGCCACTAGAAAGGAGTTCCTAGCTGTCCTATGGTGAGAATGATGGGGACACACTGTATGTTTCCATCTATAACATATTCTGGAAAAGGTGAAACTATGGAGACAGTAAAAAGATCACTGGTTGCCAGGGGTTTGGTGAGGTGCAGAGGAAGGAATGAAGAAGAGAGGCACAGAAGATTTTTAGGGCAGTGAAAATACCCTGTATAATACTATAATGATGGATACATATCATTATACATTTGTCTAAACACACAGAGTGTAAAATACCAAGAGCTAAAATAGAGGTAAACTTGGACTTTGGGTGATTATGA... | benign | 200,375 |
The mutation impacting CEP290 (centrosomal protein 290) on chromosome 12 at position 88083030: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | ATGAACAAAAAGGCATTTTAAATATTATGGCTCTTGTAAAATGTGATTGCTTCCTCTATATGATAGTTTCCTAACCATACTACTAGTAACATTTTTGACTGGATAATTCTTTGTTGGTGGTGGGGCTGCCTTGTGCATGATAGGATGTTTAGCAGCATCTTTTGATTCTACCCACTGGATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATAT... | ATGAACAAAAAGGCATTTTAAATATTATGGCTCTTGTAAAATGTGATTGCTTCCTCTATATGATAGTTTCCTAACCATACTACTAGTAACATTTTTGACTGGATAATTCTTTGTTGGTGGTGGGGCTGCCTTGTGCATGATAGGATGTTTAGCAGCATCTTTTGATTCTACCCACTGGATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATAT... | pathogenic | 200,378 |
The mutation in gene CEP290 (centrosomal protein 290) at chromosome 12, position 88083056—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | ATGGCTCTTGTAAAATGTGATTGCTTCCTCTATATGATAGTTTCCTAACCATACTACTAGTAACATTTTTGACTGGATAATTCTTTGTTGGTGGTGGGGCTGCCTTGTGCATGATAGGATGTTTAGCAGCATCTTTTGATTCTACCCACTGGATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATATAAATTTTCACAGAAATCACATGTATT... | ATGGCTCTTGTAAAATGTGATTGCTTCCTCTATATGATAGTTTCCTAACCATACTACTAGTAACATTTTTGACTGGATAATTCTTTGTTGGTGGTGGGGCTGCCTTGTGCATGATAGGATGTTTAGCAGCATCTTTTGATTCTACCCACTGGATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATATAAATTTTCACAGAAATCACATGTATT... | pathogenic | 200,380 |
Is the variant located on chromosome 12 at position 88083059, gene CEP290 (centrosomal protein 290), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | GCTCTTGTAAAATGTGATTGCTTCCTCTATATGATAGTTTCCTAACCATACTACTAGTAACATTTTTGACTGGATAATTCTTTGTTGGTGGTGGGGCTGCCTTGTGCATGATAGGATGTTTAGCAGCATCTTTTGATTCTACCCACTGGATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATATAAATTTTCACAGAAATCACATGTATTATT... | GCTCTTGTAAAATGTGATTGCTTCCTCTATATGATAGTTTCCTAACCATACTACTAGTAACATTTTTGACTGGATAATTCTTTGTTGGTGGTGGGGCTGCCTTGTGCATGATAGGATGTTTAGCAGCATCTTTTGATTCTACCCACTGGATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATATAAATTTTCACAGAAATCACATGTATTATT... | pathogenic | 200,381 |
Clinical classification of chromosome 12, position 88083075, gene CEP290 (centrosomal protein 290): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | ATTGCTTCCTCTATATGATAGTTTCCTAACCATACTACTAGTAACATTTTTGACTGGATAATTCTTTGTTGGTGGTGGGGCTGCCTTGTGCATGATAGGATGTTTAGCAGCATCTTTTGATTCTACCCACTGGATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATATAAATTTTCACAGAAATCACATGTATTATTAATTTGTTTATGGTTC... | ATTGCTTCCTCTATATGATAGTTTCCTAACCATACTACTAGTAACATTTTTGACTGGATAATTCTTTGTTGGTGGTGGGGCTGCCTTGTGCATGATAGGATGTTTAGCAGCATCTTTTGATTCTACCCACTGGATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATATAAATTTTCACAGAAATCACATGTATTATTAATTTGTTTATGGTTC... | pathogenic | 200,382 |
Determine if the mutation at chromosome 12, position 88083079 in gene CEP290 (centrosomal protein 290) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_ciliopathy', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Retinal_dystrophy', 'Senior-Lo... | CTTCCTCTATATGATAGTTTCCTAACCATACTACTAGTAACATTTTTGACTGGATAATTCTTTGTTGGTGGTGGGGCTGCCTTGTGCATGATAGGATGTTTAGCAGCATCTTTTGATTCTACCCACTGGATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATATAAATTTTCACAGAAATCACATGTATTATTAATTTGTTTATGGTTCAAAT... | CTTCCTCTATATGATAGTTTCCTAACCATACTACTAGTAACATTTTTGACTGGATAATTCTTTGTTGGTGGTGGGGCTGCCTTGTGCATGATAGGATGTTTAGCAGCATCTTTTGATTCTACCCACTGGATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATATAAATTTTCACAGAAATCACATGTATTATTAATTTGTTTATGGTTCAAAT... | pathogenic | 200,384 |
Mutation found at chromosome 12 position 88083178, gene CEP290 (centrosomal protein 290): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TTAGCAGCATCTTTTGATTCTACCCACTGGATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATATAAATTTTCACAGAAATCACATGTATTATTAATTTGTTTATGGTTCAAATTCACTAGCATTATATCTATAACTATATATATGGAAGTGGATACTATCAAAAGATTTAGTTAATTCAATTAATCTTATTGCTTATTCAGCATTAAGTCTG... | TTAGCAGCATCTTTTGATTCTACCCACTGGATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATATAAATTTTCACAGAAATCACATGTATTATTAATTTGTTTATGGTTCAAATTCACTAGCATTATATCTATAACTATATATATGGAAGTGGATACTATCAAAAGATTTAGTTAATTCAATTAATCTTATTGCTTATTCAGCATTAAGTCTG... | pathogenic | 200,390 |
Is the genetic mutation found on chromosome 12 at position 88083187, within the gene CEP290 (centrosomal protein 290), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TCTTTTGATTCTACCCACTGGATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATATAAATTTTCACAGAAATCACATGTATTATTAATTTGTTTATGGTTCAAATTCACTAGCATTATATCTATAACTATATATATGGAAGTGGATACTATCAAAAGATTTAGTTAATTCAATTAATCTTATTGCTTATTCAGCATTAAGTCTGTTAAACTGA... | TCTTTTGATTCTACCCACTGGATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATATAAATTTTCACAGAAATCACATGTATTATTAATTTGTTTATGGTTCAAATTCACTAGCATTATATCTATAACTATATATATGGAAGTGGATACTATCAAAAGATTTAGTTAATTCAATTAATCTTATTGCTTATTCAGCATTAAGTCTGTTAAACTGA... | pathogenic | 200,391 |
The mutation impacting CEP290 (centrosomal protein 290) on chromosome 12 at position 88083207: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | GATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATATAAATTTTCACAGAAATCACATGTATTATTAATTTGTTTATGGTTCAAATTCACTAGCATTATATCTATAACTATATATATGGAAGTGGATACTATCAAAAGATTTAGTTAATTCAATTAATCTTATTGCTTATTCAGCATTAAGTCTGTTAAACTGAATTAATATATTGTTGTGCAT... | GATACCAGTAGCACCCCCGAGCCATGACAATCAAAAATGTCTCCAGACATCGCCAAATGTCCCCAAGAGGGACAATGGTGAAAAACTGATCCTCTATATTTGAGAAATACTGCCCTATATTGACATATTGAAAAGACTAATATAAATTTTCACAGAAATCACATGTATTATTAATTTGTTTATGGTTCAAATTCACTAGCATTATATCTATAACTATATATATGGAAGTGGATACTATCAAAAGATTTAGTTAATTCAATTAATCTTATTGCTTATTCAGCATTAAGTCTGTTAAACTGAATTAATATATTGTTGTGCAT... | pathogenic | 200,392 |
Benign or pathogenic: chromosome 12, position 88083863, gene CEP290 (centrosomal protein 290) variant? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_ciliopathy', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel_syndrome,_type_4', 'Senior-Loken_syndrome_6'] | TTAGATGCAAAAGCACAAGTAATTTTATACTCCAAAACATGACAGAAATTTACTAGACCAAAAATAACATCTCTTGTACAAAATTTAATAGAGTGAGGAAAAGAGACTGAAAATACACATATGCTGTTGCCAATTTTCTTTCTTTTAGAGAGTAATTTCTTAACAGTGGCAGCTCCTTAGCAAAGCAAAAATAGTGTTAATTCTGTCAGAGGCATTTGAATAAGTGAGTAAAGAATCAAAGACTCTAGCAGGGGCTTGAGAGCTGAAATGGAATTATAAGTCAAGCAGTTCAATTTTCTCATGTTTTTTCAGATAATAAA... | TTAGATGCAAAAGCACAAGTAATTTTATACTCCAAAACATGACAGAAATTTACTAGACCAAAAATAACATCTCTTGTACAAAATTTAATAGAGTGAGGAAAAGAGACTGAAAATACACATATGCTGTTGCCAATTTTCTTTCTTTTAGAGAGTAATTTCTTAACAGTGGCAGCTCCTTAGCAAAGCAAAAATAGTGTTAATTCTGTCAGAGGCATTTGAATAAGTGAGTAAAGAATCAAAGACTCTAGCAGGGGCTTGAGAGCTGAAATGGAATTATAAGTCAAGCAGTTCAATTTTCTCATGTTTTTTCAGATAATAAA... | pathogenic | 200,395 |
Considering the genetic mutation at chromosome 12, position 88083921, impacting CEP290 (centrosomal protein 290): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | CAAAAATAACATCTCTTGTACAAAATTTAATAGAGTGAGGAAAAGAGACTGAAAATACACATATGCTGTTGCCAATTTTCTTTCTTTTAGAGAGTAATTTCTTAACAGTGGCAGCTCCTTAGCAAAGCAAAAATAGTGTTAATTCTGTCAGAGGCATTTGAATAAGTGAGTAAAGAATCAAAGACTCTAGCAGGGGCTTGAGAGCTGAAATGGAATTATAAGTCAAGCAGTTCAATTTTCTCATGTTTTTTCAGATAATAAAATTTAGGCCCATAGAGATAATATTATAATGATTAGAAACTACCTAACTATAAACCTAT... | CAAAAATAACATCTCTTGTACAAAATTTAATAGAGTGAGGAAAAGAGACTGAAAATACACATATGCTGTTGCCAATTTTCTTTCTTTTAGAGAGTAATTTCTTAACAGTGGCAGCTCCTTAGCAAAGCAAAAATAGTGTTAATTCTGTCAGAGGCATTTGAATAAGTGAGTAAAGAATCAAAGACTCTAGCAGGGGCTTGAGAGCTGAAATGGAATTATAAGTCAAGCAGTTCAATTTTCTCATGTTTTTTCAGATAATAAAATTTAGGCCCATAGAGATAATATTATAATGATTAGAAACTACCTAACTATAAACCTAT... | pathogenic | 200,398 |
Variant chromosome 12, position 88083943, gene CEP290 (centrosomal protein 290): benign or pathogenic? Disease(s)? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | AAATTTAATAGAGTGAGGAAAAGAGACTGAAAATACACATATGCTGTTGCCAATTTTCTTTCTTTTAGAGAGTAATTTCTTAACAGTGGCAGCTCCTTAGCAAAGCAAAAATAGTGTTAATTCTGTCAGAGGCATTTGAATAAGTGAGTAAAGAATCAAAGACTCTAGCAGGGGCTTGAGAGCTGAAATGGAATTATAAGTCAAGCAGTTCAATTTTCTCATGTTTTTTCAGATAATAAAATTTAGGCCCATAGAGATAATATTATAATGATTAGAAACTACCTAACTATAAACCTATTTTGAGTTTAAAATCTACGTTC... | AAATTTAATAGAGTGAGGAAAAGAGACTGAAAATACACATATGCTGTTGCCAATTTTCTTTCTTTTAGAGAGTAATTTCTTAACAGTGGCAGCTCCTTAGCAAAGCAAAAATAGTGTTAATTCTGTCAGAGGCATTTGAATAAGTGAGTAAAGAATCAAAGACTCTAGCAGGGGCTTGAGAGCTGAAATGGAATTATAAGTCAAGCAGTTCAATTTTCTCATGTTTTTTCAGATAATAAAATTTAGGCCCATAGAGATAATATTATAATGATTAGAAACTACCTAACTATAAACCTATTTTGAGTTTAAAATCTACGTTC... | pathogenic | 200,400 |
For chromosome 12, position 88084539, gene CEP290 (centrosomal protein 290): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AAGACCAGCCTGGGCAACATGGAGAAACCTTGTCTCTACAAAAATACAAAAAAACTACCCAGGTGTGGTGGCACCTGCCTGTAGTGCCAGCTACTCTGCAGGCTGAGGTGGGAAGATGGTTTGAGCCTGGAAGGTCAAGGTTGCAGTGAGCTGAGATTATGTCACTGCACTCCAGCCTAGGAAATAGAGCCAGACCTTGTCTCAAAAATAAAAATAAATAAATAAGATGAAACTGAGGCTCAAAGAAGGTAAAAATGAGATTCTGGAAAAGAATTTGTATTGGCTTTTGAGTCAGACTGACTAGTTTCAAATTATGGCTT... | AAGACCAGCCTGGGCAACATGGAGAAACCTTGTCTCTACAAAAATACAAAAAAACTACCCAGGTGTGGTGGCACCTGCCTGTAGTGCCAGCTACTCTGCAGGCTGAGGTGGGAAGATGGTTTGAGCCTGGAAGGTCAAGGTTGCAGTGAGCTGAGATTATGTCACTGCACTCCAGCCTAGGAAATAGAGCCAGACCTTGTCTCAAAAATAAAAATAAATAAATAAGATGAAACTGAGGCTCAAAGAAGGTAAAAATGAGATTCTGGAAAAGAATTTGTATTGGCTTTTGAGTCAGACTGACTAGTTTCAAATTATGGCTT... | benign | 200,405 |
Is the genetic change at chromosome 12, position 88084668, within gene CEP290 (centrosomal protein 290) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | GAAGGTCAAGGTTGCAGTGAGCTGAGATTATGTCACTGCACTCCAGCCTAGGAAATAGAGCCAGACCTTGTCTCAAAAATAAAAATAAATAAATAAGATGAAACTGAGGCTCAAAGAAGGTAAAAATGAGATTCTGGAAAAGAATTTGTATTGGCTTTTGAGTCAGACTGACTAGTTTCAAATTATGGCTTTCCCATCTACCCCCAGACATGCTATTAAGCATTCCTGAGGCCATATCCTCTCTTTAAAATGGGGAAAATGATAACATATGTAACCAGCAGTCCTGAGGATAAAAATGAGACAATATACTTAAAAGTCTT... | GAAGGTCAAGGTTGCAGTGAGCTGAGATTATGTCACTGCACTCCAGCCTAGGAAATAGAGCCAGACCTTGTCTCAAAAATAAAAATAAATAAATAAGATGAAACTGAGGCTCAAAGAAGGTAAAAATGAGATTCTGGAAAAGAATTTGTATTGGCTTTTGAGTCAGACTGACTAGTTTCAAATTATGGCTTTCCCATCTACCCCCAGACATGCTATTAAGCATTCCTGAGGCCATATCCTCTCTTTAAAATGGGGAAAATGATAACATATGTAACCAGCAGTCCTGAGGATAAAAATGAGACAATATACTTAAAAGTCTT... | pathogenic | 200,410 |
Located at chromosome 12 position 88084834, the variant affecting gene CEP290 (centrosomal protein 290)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Meckel-Gruber_syndrome', 'Nephronophthisis', 'Retinal_dystrophy'] | ACTGACTAGTTTCAAATTATGGCTTTCCCATCTACCCCCAGACATGCTATTAAGCATTCCTGAGGCCATATCCTCTCTTTAAAATGGGGAAAATGATAACATATGTAACCAGCAGTCCTGAGGATAAAAATGAGACAATATACTTAAAAGTCTTAGAACAGTGCCTGGCATAGCAAACACTTATGTTTATCTTCATTATATCACTTATCATTTGCCTATTTTTACAATACATTTCGAAGACTTACTGTAATTTGATATTTTCAAATTCTTTTACTTTTAATTCAGTGATTTCTCTTTGTCTCTCCAAATCTTGTGATACT... | ACTGACTAGTTTCAAATTATGGCTTTCCCATCTACCCCCAGACATGCTATTAAGCATTCCTGAGGCCATATCCTCTCTTTAAAATGGGGAAAATGATAACATATGTAACCAGCAGTCCTGAGGATAAAAATGAGACAATATACTTAAAAGTCTTAGAACAGTGCCTGGCATAGCAAACACTTATGTTTATCTTCATTATATCACTTATCATTTGCCTATTTTTACAATACATTTCGAAGACTTACTGTAATTTGATATTTTCAAATTCTTTTACTTTTAATTCAGTGATTTCTCTTTGTCTCTCCAAATCTTGTGATACT... | pathogenic | 200,414 |
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