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 |
|---|---|---|---|---|---|
Chromosome 5, position 7878238, gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Methylcobalamin_deficiency_type_cblE', 'Neural_tube_defects,_folate-sensitive'] | CCCACTTCTTCCGTCTTTCCCTTCAGCTCTGATGCCATGGGTTTTTTCCATATCGCCAGCACACATATTCTTCCTGATTGTGACAAAGCTTTGTGACATTTCCTTGGGAATTCACTTTAGCTCTGTACCTTTATATTGAGCTTTTTTCTTTTGCCAGAAGCTCATTGACATTAAATGCTCAGTCTTGTATGAGCTGTGTTTAACTGTTAATGTAATGCTTGTGTCATCCATTAGGCCCATCACTCATCCATATTTCACTTCTCTTCAAAGGCTTTCATTTTCTCTGTTGATTTATTGGTGTAAGTATTGAAATGCTTGAC... | CCCACTTCTTCCGTCTTTCCCTTCAGCTCTGATGCCATGGGTTTTTTCCATATCGCCAGCACACATATTCTTCCTGATTGTGACAAAGCTTTGTGACATTTCCTTGGGAATTCACTTTAGCTCTGTACCTTTATATTGAGCTTTTTTCTTTTGCCAGAAGCTCATTGACATTAAATGCTCAGTCTTGTATGAGCTGTGTTTAACTGTTAATGTAATGCTTGTGTCATCCATTAGGCCCATCACTCATCCATATTTCACTTCTCTTCAAAGGCTTTCATTTTCTCTGTTGATTTATTGGTGTAAGTATTGAAATGCTTGAC... | pathogenic | 90,236 |
Mutation found at chromosome 5 position 7878277, gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Methylcobalamin_deficiency_type_cblE', 'Neural_tube_defects,_folate-sensitive'] | GGTTTTTTCCATATCGCCAGCACACATATTCTTCCTGATTGTGACAAAGCTTTGTGACATTTCCTTGGGAATTCACTTTAGCTCTGTACCTTTATATTGAGCTTTTTTCTTTTGCCAGAAGCTCATTGACATTAAATGCTCAGTCTTGTATGAGCTGTGTTTAACTGTTAATGTAATGCTTGTGTCATCCATTAGGCCCATCACTCATCCATATTTCACTTCTCTTCAAAGGCTTTCATTTTCTCTGTTGATTTATTGGTGTAAGTATTGAAATGCTTGACTGTATATTTCAGTAGACTATAGTGCTTAGATTTTCAACC... | GGTTTTTTCCATATCGCCAGCACACATATTCTTCCTGATTGTGACAAAGCTTTGTGACATTTCCTTGGGAATTCACTTTAGCTCTGTACCTTTATATTGAGCTTTTTTCTTTTGCCAGAAGCTCATTGACATTAAATGCTCAGTCTTGTATGAGCTGTGTTTAACTGTTAATGTAATGCTTGTGTCATCCATTAGGCCCATCACTCATCCATATTTCACTTCTCTTCAAAGGCTTTCATTTTCTCTGTTGATTTATTGGTGTAAGTATTGAAATGCTTGACTGTATATTTCAGTAGACTATAGTGCTTAGATTTTCAACC... | pathogenic | 90,237 |
Classify the chromosome 5 variant at position 7878282 affecting gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Methylcobalamin_deficiency_type_cblE', 'Neural_tube_defects,_folate-sensitive'] | TTTCCATATCGCCAGCACACATATTCTTCCTGATTGTGACAAAGCTTTGTGACATTTCCTTGGGAATTCACTTTAGCTCTGTACCTTTATATTGAGCTTTTTTCTTTTGCCAGAAGCTCATTGACATTAAATGCTCAGTCTTGTATGAGCTGTGTTTAACTGTTAATGTAATGCTTGTGTCATCCATTAGGCCCATCACTCATCCATATTTCACTTCTCTTCAAAGGCTTTCATTTTCTCTGTTGATTTATTGGTGTAAGTATTGAAATGCTTGACTGTATATTTCAGTAGACTATAGTGCTTAGATTTTCAACCTAACT... | TTTCCATATCGCCAGCACACATATTCTTCCTGATTGTGACAAAGCTTTGTGACATTTCCTTGGGAATTCACTTTAGCTCTGTACCTTTATATTGAGCTTTTTTCTTTTGCCAGAAGCTCATTGACATTAAATGCTCAGTCTTGTATGAGCTGTGTTTAACTGTTAATGTAATGCTTGTGTCATCCATTAGGCCCATCACTCATCCATATTTCACTTCTCTTCAAAGGCTTTCATTTTCTCTGTTGATTTATTGGTGTAAGTATTGAAATGCTTGACTGTATATTTCAGTAGACTATAGTGCTTAGATTTTCAACCTAACT... | pathogenic | 90,239 |
Regarding the variant found on chromosome 5 at position 7885669 in gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TCAGAAGAATGAGAGGTCTCTGACAGGACATCTTGCCATTTTATTCCTGACCCATCATTTTTTTCTCTCTTCTATTTTCACACCTATTTTCTTTCCACTTCAGGGAAGGACTAGGGAAGAATGGCTGGAGGAGATTCAGCCTGAGAGGAAGATGCTGGCTTACTCAATAAGCCATGAAAGAATAATGGGATCAGAACAGCATTTTATATATAAGAGGCCCAGGAAAGGAAGCTGTCCACTAAGGTCAGCCAGGAAGTTAGAAATAGAGCCTAAGGTCAAACGAGGTGGCTCTCGCCTATAATCCCAGCACTTTGGGAGGC... | TCAGAAGAATGAGAGGTCTCTGACAGGACATCTTGCCATTTTATTCCTGACCCATCATTTTTTTCTCTCTTCTATTTTCACACCTATTTTCTTTCCACTTCAGGGAAGGACTAGGGAAGAATGGCTGGAGGAGATTCAGCCTGAGAGGAAGATGCTGGCTTACTCAATAAGCCATGAAAGAATAATGGGATCAGAACAGCATTTTATATATAAGAGGCCCAGGAAAGGAAGCTGTCCACTAAGGTCAGCCAGGAAGTTAGAAATAGAGCCTAAGGTCAAACGAGGTGGCTCTCGCCTATAATCCCAGCACTTTGGGAGGC... | benign | 90,250 |
Gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase) variant at chromosome 5, position 7885681—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GAGGTCTCTGACAGGACATCTTGCCATTTTATTCCTGACCCATCATTTTTTTCTCTCTTCTATTTTCACACCTATTTTCTTTCCACTTCAGGGAAGGACTAGGGAAGAATGGCTGGAGGAGATTCAGCCTGAGAGGAAGATGCTGGCTTACTCAATAAGCCATGAAAGAATAATGGGATCAGAACAGCATTTTATATATAAGAGGCCCAGGAAAGGAAGCTGTCCACTAAGGTCAGCCAGGAAGTTAGAAATAGAGCCTAAGGTCAAACGAGGTGGCTCTCGCCTATAATCCCAGCACTTTGGGAGGCTGAAGGCGGTCA... | GAGGTCTCTGACAGGACATCTTGCCATTTTATTCCTGACCCATCATTTTTTTCTCTCTTCTATTTTCACACCTATTTTCTTTCCACTTCAGGGAAGGACTAGGGAAGAATGGCTGGAGGAGATTCAGCCTGAGAGGAAGATGCTGGCTTACTCAATAAGCCATGAAAGAATAATGGGATCAGAACAGCATTTTATATATAAGAGGCCCAGGAAAGGAAGCTGTCCACTAAGGTCAGCCAGGAAGTTAGAAATAGAGCCTAAGGTCAAACGAGGTGGCTCTCGCCTATAATCCCAGCACTTTGGGAGGCTGAAGGCGGTCA... | benign | 90,251 |
Chromosome 5, position 7892771, gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Methylcobalamin_deficiency_type_cblE', 'Neural_tube_defects,_folate-sensitive'] | TAAAACATACCAAAACATAAAACATTTCAAAGTTTATTAGTGGATAGTTCAATATTTAAATACAGATTATTTAACCTGCTTTTGAAAGAATACCTACGTATTTTGAAATCACTGATTTTTTTTGATAAATTTTTAAAAACCAAACACTTTAATTATTTTAAATGTAAGATGGAAAATATTTCAAGCCTAAGCATTTTCAGTAATTCTTGAAAGAGTAGCCTTTAATCTTTTTGGGATCATGACTTTATTTTAAATCTGAAAACTGGGCACCTCCCTGCAGAAAACTGCGCACCTCCCTGCAGAAAACTGCACATATACCT... | TAAAACATACCAAAACATAAAACATTTCAAAGTTTATTAGTGGATAGTTCAATATTTAAATACAGATTATTTAACCTGCTTTTGAAAGAATACCTACGTATTTTGAAATCACTGATTTTTTTTGATAAATTTTTAAAAACCAAACACTTTAATTATTTTAAATGTAAGATGGAAAATATTTCAAGCCTAAGCATTTTCAGTAATTCTTGAAAGAGTAGCCTTTAATCTTTTTGGGATCATGACTTTATTTTAAATCTGAAAACTGGGCACCTCCCTGCAGAAAACTGCGCACCTCCCTGCAGAAAACTGCACATATACCT... | pathogenic | 90,275 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 7892909, gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Methylcobalamin_deficiency_type_cblE', 'Neural_tube_defects,_folate-sensitive'] | ACCAAACACTTTAATTATTTTAAATGTAAGATGGAAAATATTTCAAGCCTAAGCATTTTCAGTAATTCTTGAAAGAGTAGCCTTTAATCTTTTTGGGATCATGACTTTATTTTAAATCTGAAAACTGGGCACCTCCCTGCAGAAAACTGCGCACCTCCCTGCAGAAAACTGCACATATACCTAGTAAGGGTTTGCTGAGCTCCTCACCTCTGAAGCCAACTTATGGACCCATTCCTAGAAGCCTTTGCTTTTAAAATTCGCCTTTGGGTAGAAATACTGATTTAAGAGTAAGAAAATGCATCTTATCTGGTTTTTAACTT... | ACCAAACACTTTAATTATTTTAAATGTAAGATGGAAAATATTTCAAGCCTAAGCATTTTCAGTAATTCTTGAAAGAGTAGCCTTTAATCTTTTTGGGATCATGACTTTATTTTAAATCTGAAAACTGGGCACCTCCCTGCAGAAAACTGCGCACCTCCCTGCAGAAAACTGCACATATACCTAGTAAGGGTTTGCTGAGCTCCTCACCTCTGAAGCCAACTTATGGACCCATTCCTAGAAGCCTTTGCTTTTAAAATTCGCCTTTGGGTAGAAATACTGATTTAAGAGTAAGAAAATGCATCTTATCTGGTTTTTAACTT... | pathogenic | 90,282 |
Determine if the mutation at chromosome 5, position 7896861 in gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'MTRR-related_disorder', 'Methylcobalamin_deficiency_type_cblE', 'Neural_tube_defects,_folate-sensitive'] | GACAGGGGCGTTGTTTTGTTCATTTCTGTATCCTTAATGCCTGTCATGGTGAATACTTTCAGTAAATCTGTTAAATGAATGAAGCAAAGAAGGCTAATGTAATGTTAACTAGTTTCATTCCCAAGTAAGAGCAGTAATGAGACACAGCTTTGCCATTCCTTCATTTAAAAGGTATGGTGTTCAGGCTCGTCATTACTTCCTACAGTCGTCCTTGAGTTAAAAGTTAAAATGTATACAGTTACACCACCATGCAAGGTGGAGGGGAATCCTGTCATTCTTAAATCTTGGTATCAGTATGACTTTTGCATATGACAGTGAAA... | GACAGGGGCGTTGTTTTGTTCATTTCTGTATCCTTAATGCCTGTCATGGTGAATACTTTCAGTAAATCTGTTAAATGAATGAAGCAAAGAAGGCTAATGTAATGTTAACTAGTTTCATTCCCAAGTAAGAGCAGTAATGAGACACAGCTTTGCCATTCCTTCATTTAAAAGGTATGGTGTTCAGGCTCGTCATTACTTCCTACAGTCGTCCTTGAGTTAAAAGTTAAAATGTATACAGTTACACCACCATGCAAGGTGGAGGGGAATCCTGTCATTCTTAAATCTTGGTATCAGTATGACTTTTGCATATGACAGTGAAA... | pathogenic | 90,295 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 7899907, gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase): what disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Neural_tube_defects,_folate-sensitive'] | AATTCACTTTTTCATCCAAACACATTCCTAGGATTTAACACATTCTCTAAGTCAGGTTCTTTTTTTTTTCAACTGTAATGTAGAAGACAAAATACTGGCATCGTGACCCAGAACATATGGATAAAGATAATTGAAACAAGTTTCATGAAACAAAGCAACGTTTTCTGTTTAGTTTTTATAACACATTCTGATCATTTCTCTTCCATTTTATTTAGTTTGCTTTAAAAGCTAGCTTTGGCTACTAAGTTAATTTCATGTCCTTTCAATAGATTTTGACTCCTAATTGAAAAACATTGCTTTAGGTCAATAAAGGGCAGAAA... | AATTCACTTTTTCATCCAAACACATTCCTAGGATTTAACACATTCTCTAAGTCAGGTTCTTTTTTTTTTCAACTGTAATGTAGAAGACAAAATACTGGCATCGTGACCCAGAACATATGGATAAAGATAATTGAAACAAGTTTCATGAAACAAAGCAACGTTTTCTGTTTAGTTTTTATAACACATTCTGATCATTTCTCTTCCATTTTATTTAGTTTGCTTTAAAAGCTAGCTTTGGCTACTAAGTTAATTTCATGTCCTTTCAATAGATTTTGACTCCTAATTGAAAAACATTGCTTTAGGTCAATAAAGGGCAGAAA... | pathogenic | 90,309 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 11385162, gene CTNND2 (catenin delta 2): what disease(s) if pathogenic? | benign | GTCTACACAAATCACCCATGGGAGAAAGAACTGGAAGCTAAGACTCCTGATTTCTTTCATGAGGTAAGTGTAAGAAATGAAATGGCCTCTAGTAGGACGCCTGGACTCCCTGCGCCTCAGTCTCCTCTTCTCTGTGGTGGTGCGCATGGCTGAGAAGGGTGTCATGGAGTCTCGTAAGAACTCCACCCATCTCCCCCTTCTTGACATGATCTGGTAACTTATTTTACAAAAGCATTTACATGAAGTTTCAGTACATGTTCACTCGCCCCCTTTTCTAAGCAGATCGCTACTCCTGAGTCCCTACAGCATGAAGATTTAGG... | GTCTACACAAATCACCCATGGGAGAAAGAACTGGAAGCTAAGACTCCTGATTTCTTTCATGAGGTAAGTGTAAGAAATGAAATGGCCTCTAGTAGGACGCCTGGACTCCCTGCGCCTCAGTCTCCTCTTCTCTGTGGTGGTGCGCATGGCTGAGAAGGGTGTCATGGAGTCTCGTAAGAACTCCACCCATCTCCCCCTTCTTGACATGATCTGGTAACTTATTTTACAAAAGCATTTACATGAAGTTTCAGTACATGTTCACTCGCCCCCTTTTCTAAGCAGATCGCTACTCCTGAGTCCCTACAGCATGAAGATTTAGG... | benign | 90,430 |
Benign or pathogenic: chromosome 5, position 11385162, gene CTNND2 (catenin delta 2) variant? Disease(s) if pathogenic? | benign | GTCTACACAAATCACCCATGGGAGAAAGAACTGGAAGCTAAGACTCCTGATTTCTTTCATGAGGTAAGTGTAAGAAATGAAATGGCCTCTAGTAGGACGCCTGGACTCCCTGCGCCTCAGTCTCCTCTTCTCTGTGGTGGTGCGCATGGCTGAGAAGGGTGTCATGGAGTCTCGTAAGAACTCCACCCATCTCCCCCTTCTTGACATGATCTGGTAACTTATTTTACAAAAGCATTTACATGAAGTTTCAGTACATGTTCACTCGCCCCCTTTTCTAAGCAGATCGCTACTCCTGAGTCCCTACAGCATGAAGATTTAGG... | GTCTACACAAATCACCCATGGGAGAAAGAACTGGAAGCTAAGACTCCTGATTTCTTTCATGAGGTAAGTGTAAGAAATGAAATGGCCTCTAGTAGGACGCCTGGACTCCCTGCGCCTCAGTCTCCTCTTCTCTGTGGTGGTGCGCATGGCTGAGAAGGGTGTCATGGAGTCTCGTAAGAACTCCACCCATCTCCCCCTTCTTGACATGATCTGGTAACTTATTTTACAAAAGCATTTACATGAAGTTTCAGTACATGTTCACTCGCCCCCTTTTCTAAGCAGATCGCTACTCCTGAGTCCCTACAGCATGAAGATTTAGG... | benign | 90,431 |
For chromosome 5, position 11385162, gene CTNND2 (catenin delta 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GTCTACACAAATCACCCATGGGAGAAAGAACTGGAAGCTAAGACTCCTGATTTCTTTCATGAGGTAAGTGTAAGAAATGAAATGGCCTCTAGTAGGACGCCTGGACTCCCTGCGCCTCAGTCTCCTCTTCTCTGTGGTGGTGCGCATGGCTGAGAAGGGTGTCATGGAGTCTCGTAAGAACTCCACCCATCTCCCCCTTCTTGACATGATCTGGTAACTTATTTTACAAAAGCATTTACATGAAGTTTCAGTACATGTTCACTCGCCCCCTTTTCTAAGCAGATCGCTACTCCTGAGTCCCTACAGCATGAAGATTTAGG... | GTCTACACAAATCACCCATGGGAGAAAGAACTGGAAGCTAAGACTCCTGATTTCTTTCATGAGGTAAGTGTAAGAAATGAAATGGCCTCTAGTAGGACGCCTGGACTCCCTGCGCCTCAGTCTCCTCTTCTCTGTGGTGGTGCGCATGGCTGAGAAGGGTGTCATGGAGTCTCGTAAGAACTCCACCCATCTCCCCCTTCTTGACATGATCTGGTAACTTATTTTACAAAAGCATTTACATGAAGTTTCAGTACATGTTCACTCGCCCCCTTTTCTAAGCAGATCGCTACTCCTGAGTCCCTACAGCATGAAGATTTAGG... | benign | 90,432 |
Gene mutation in CTNND2 (catenin delta 2) at chromosome 5, position 11385162—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GTCTACACAAATCACCCATGGGAGAAAGAACTGGAAGCTAAGACTCCTGATTTCTTTCATGAGGTAAGTGTAAGAAATGAAATGGCCTCTAGTAGGACGCCTGGACTCCCTGCGCCTCAGTCTCCTCTTCTCTGTGGTGGTGCGCATGGCTGAGAAGGGTGTCATGGAGTCTCGTAAGAACTCCACCCATCTCCCCCTTCTTGACATGATCTGGTAACTTATTTTACAAAAGCATTTACATGAAGTTTCAGTACATGTTCACTCGCCCCCTTTTCTAAGCAGATCGCTACTCCTGAGTCCCTACAGCATGAAGATTTAGG... | GTCTACACAAATCACCCATGGGAGAAAGAACTGGAAGCTAAGACTCCTGATTTCTTTCATGAGGTAAGTGTAAGAAATGAAATGGCCTCTAGTAGGACGCCTGGACTCCCTGCGCCTCAGTCTCCTCTTCTCTGTGGTGGTGCGCATGGCTGAGAAGGGTGTCATGGAGTCTCGTAAGAACTCCACCCATCTCCCCCTTCTTGACATGATCTGGTAACTTATTTTACAAAAGCATTTACATGAAGTTTCAGTACATGTTCACTCGCCCCCTTTTCTAAGCAGATCGCTACTCCTGAGTCCCTACAGCATGAAGATTTAGG... | benign | 90,433 |
Benign or pathogenic: chromosome 5, position 13701316, gene DNAH5 (dynein axonemal heavy chain 5) variant? Disease(s) if pathogenic? | pathogenic; ['DNAH5-related_disorder', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | ATTTGTATTTTCATTATTTACTTACTACGGGTCTCCTTCACTAGACTGTGAGTCTCTGGGAGCTGGATCTGGTTCATAATGATCTTTGCATCCCTAGCACCTAAGGTTATGGCTGGTAACTATTAGACATCCAGCAAATGTTTGCTTAAAAAATAAATACTTGGGGCCGGGCATGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGGGCAGATCATGAGGTCAGGAGTTCGAGACCAGCCTAATCAACATGGTGAAGCCCTGTCTCTAGTAAAAATACAAAAATTAGCTGGATGTGGTGGTGCACG... | ATTTGTATTTTCATTATTTACTTACTACGGGTCTCCTTCACTAGACTGTGAGTCTCTGGGAGCTGGATCTGGTTCATAATGATCTTTGCATCCCTAGCACCTAAGGTTATGGCTGGTAACTATTAGACATCCAGCAAATGTTTGCTTAAAAAATAAATACTTGGGGCCGGGCATGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGGGCAGATCATGAGGTCAGGAGTTCGAGACCAGCCTAATCAACATGGTGAAGCCCTGTCTCTAGTAAAAATACAAAAATTAGCTGGATGTGGTGGTGCACG... | pathogenic | 90,466 |
Variant at chromosome 5, position 13708263, gene DNAH5 (dynein axonemal heavy chain 5): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | AGATCTCAAAGGGGTGAATCCTGTTGCCTTTCCATGCCTGCATTTCTGTCTTGATTTCCCCCTCCTTCCAACCTTTAGGTGTAGCAGGGCAAGTGAATGAGGAAGTGGAGCAGAAGTGAAAATCTAGGGAGCAGGACATTGGGAGTGATCTGTCAGGTCAGCCCTGCTTGGGTTCATGCTGTGGGTGTGGAGTCCCCCAGACAATGGCAGGAGTCAGATGGAAAGGAAGCCATGGGGCAGATCCAGATTTTCCCAAGAAATAGGTTATAGAAGACAGCTACACCTCCCACTCTTTTCCTACGTATTTTTTCACCATAATT... | AGATCTCAAAGGGGTGAATCCTGTTGCCTTTCCATGCCTGCATTTCTGTCTTGATTTCCCCCTCCTTCCAACCTTTAGGTGTAGCAGGGCAAGTGAATGAGGAAGTGGAGCAGAAGTGAAAATCTAGGGAGCAGGACATTGGGAGTGATCTGTCAGGTCAGCCCTGCTTGGGTTCATGCTGTGGGTGTGGAGTCCCCCAGACAATGGCAGGAGTCAGATGGAAAGGAAGCCATGGGGCAGATCCAGATTTTCCCAAGAAATAGGTTATAGAAGACAGCTACACCTCCCACTCTTTTCCTACGTATTTTTTCACCATAATT... | pathogenic | 90,479 |
Gene mutation in DNAH5 (dynein axonemal heavy chain 5) at chromosome 5, position 13714469—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | ATGACCAAGAACTCAAAAGCAAATGCAATAACAACAAAGATATATAGTTGGGACCTAATTAAACTAAAGAGCCTTTGCATGGCAAAAGGAACAGTCAGCAGAGTGAACAAACAACCCACAGAGTGGGAGAAAAATCTTCACAATCTATACATCTGACAAAGAACTAATATCCAGAATCACAACGAACTCAAACAAATCAGTAAGAAAAAAACAAACAATCCCATCCAAAAGTGGGCTAAGCATATGAATAGGCAATTCTCAAAAGAAGATATACAAGTAGCCAACAAGCATATGAAAAAAATGCTCAACATCACTAATGA... | ATGACCAAGAACTCAAAAGCAAATGCAATAACAACAAAGATATATAGTTGGGACCTAATTAAACTAAAGAGCCTTTGCATGGCAAAAGGAACAGTCAGCAGAGTGAACAAACAACCCACAGAGTGGGAGAAAAATCTTCACAATCTATACATCTGACAAAGAACTAATATCCAGAATCACAACGAACTCAAACAAATCAGTAAGAAAAAAACAAACAATCCCATCCAAAAGTGGGCTAAGCATATGAATAGGCAATTCTCAAAAGAAGATATACAAGTAGCCAACAAGCATATGAAAAAAATGCTCAACATCACTAATGA... | pathogenic | 90,485 |
Variant at chromosome 5, position 13727604, gene DNAH5 (dynein axonemal heavy chain 5): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | ACTTGTTCATCCCAATATGTGGTCCCAATGCAACAGATTCAGCCTTTCAATGGGGGAGAAAATGAACAAATAACCTGCACACCTGTGCCAACCTCCCTTTGTTGAGTATTTTTTTTTTGAGATGGAGTCTCACCCTGGCACCTAGGCTGGGTGCAGTGGCACGATCTCAGTTCACTGCAAGCTCCACTTTCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTACAGGTGCCACCACCATGCCTGGCTAATTTTTGCATTTTTAGCAGAAATGCGGTTTCACCATGTTGGCCAGACTGGTCTTGA... | ACTTGTTCATCCCAATATGTGGTCCCAATGCAACAGATTCAGCCTTTCAATGGGGGAGAAAATGAACAAATAACCTGCACACCTGTGCCAACCTCCCTTTGTTGAGTATTTTTTTTTTGAGATGGAGTCTCACCCTGGCACCTAGGCTGGGTGCAGTGGCACGATCTCAGTTCACTGCAAGCTCCACTTTCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTACAGGTGCCACCACCATGCCTGGCTAATTTTTGCATTTTTAGCAGAAATGCGGTTTCACCATGTTGGCCAGACTGGTCTTGA... | pathogenic | 90,528 |
Variant at chromosome 5, position 13735223, gene DNAH5 (dynein axonemal heavy chain 5): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | ATTATAGACAAGGAAACTGGAGTTTGAAAAGGGTAAATGACCTTCTCAAGATCAAGAAAGTGACAAAGCCAACACATATTTTAACTCTCAACTTCCTAACTCTAAATCTTATGTTTGCTATCATGAAGACAAACTGTGAGATGCTTCACAGTATTTCAACAAGAGCTGGACACTCTCTTCAAAGTTATTTCTATGTGGAAATACATTTCATGCCTGAGTTGAGAACGACAGGAACAACAATCCATTGAAAAGCTCTAGAAACGGGGGACTAGAGTCACTGAGGCCAGAAATTAGTAACATATTAAGGGTTCACCAGAGAA... | ATTATAGACAAGGAAACTGGAGTTTGAAAAGGGTAAATGACCTTCTCAAGATCAAGAAAGTGACAAAGCCAACACATATTTTAACTCTCAACTTCCTAACTCTAAATCTTATGTTTGCTATCATGAAGACAAACTGTGAGATGCTTCACAGTATTTCAACAAGAGCTGGACACTCTCTTCAAAGTTATTTCTATGTGGAAATACATTTCATGCCTGAGTTGAGAACGACAGGAACAACAATCCATTGAAAAGCTCTAGAAACGGGGGACTAGAGTCACTGAGGCCAGAAATTAGTAACATATTAAGGGTTCACCAGAGAA... | pathogenic | 90,536 |
Mutation found at chromosome 5 position 13751238, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | TTAGGCGTTATAATGCTGTTCACATTATAAAAGAAAACGAGTGTCTGTTATTATGAAAGAAAAAAAATGAGTGTCACATTATTCTGGCTGATCATTTTGTAAGAATTATTTACTGTGAGCCCAGAACAGATTCTGATAATGAGATAATATTAAAGGAGTAATTCTCTCAAGACACTCAATTTTCCTAAGAAGTAAGAAAAAGCCTGGTCCTGCATCCATACTGGCTTTTCAGGGCTGCTCCAAGTGTTTTCAAATGAGCTTAACAAGCTCCTTATTTCATCTTAAACCTCTGCTACAGGAATTAAGGCCCAGTGATGGGC... | TTAGGCGTTATAATGCTGTTCACATTATAAAAGAAAACGAGTGTCTGTTATTATGAAAGAAAAAAAATGAGTGTCACATTATTCTGGCTGATCATTTTGTAAGAATTATTTACTGTGAGCCCAGAACAGATTCTGATAATGAGATAATATTAAAGGAGTAATTCTCTCAAGACACTCAATTTTCCTAAGAAGTAAGAAAAAGCCTGGTCCTGCATCCATACTGGCTTTTCAGGGCTGCTCCAAGTGTTTTCAAATGAGCTTAACAAGCTCCTTATTTCATCTTAAACCTCTGCTACAGGAATTAAGGCCCAGTGATGGGC... | pathogenic | 90,554 |
For chromosome 5, position 13753289, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | TCCTTGTCACCAACTTTCACCTTTTTTATAAAAAGAAATTTAAAAGTAATAAAATAGAGATATACCTTACTGTGTCTTTTTTGTATCAGATCAAGTATTGTTTTAAATAATTACATAATTGGAGATCATTTGTATACTAAAAAAGAAATGGTCATGAGGCGTCTGCACAGCTTCAGACAACTAGGATGAAAGAAAGGAAGCAAAGAAGGATGGGAGGAAGAAACATATATATACACACATATATATAATGGACTGAATATAGAATTTAACACCAAAATTGTTATGATCACATTGCAGGAGTGAGATGGATCCCTTACCCA... | TCCTTGTCACCAACTTTCACCTTTTTTATAAAAAGAAATTTAAAAGTAATAAAATAGAGATATACCTTACTGTGTCTTTTTTGTATCAGATCAAGTATTGTTTTAAATAATTACATAATTGGAGATCATTTGTATACTAAAAAAGAAATGGTCATGAGGCGTCTGCACAGCTTCAGACAACTAGGATGAAAGAAAGGAAGCAAAGAAGGATGGGAGGAAGAAACATATATATACACACATATATATAATGGACTGAATATAGAATTTAACACCAAAATTGTTATGATCACATTGCAGGAGTGAGATGGATCCCTTACCCA... | pathogenic | 90,563 |
Does the variant impacting DNAH5 (dynein axonemal heavy chain 5) on chromosome 5, position 13753385, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | ATTGTTTTAAATAATTACATAATTGGAGATCATTTGTATACTAAAAAAGAAATGGTCATGAGGCGTCTGCACAGCTTCAGACAACTAGGATGAAAGAAAGGAAGCAAAGAAGGATGGGAGGAAGAAACATATATATACACACATATATATAATGGACTGAATATAGAATTTAACACCAAAATTGTTATGATCACATTGCAGGAGTGAGATGGATCCCTTACCCAAAATTCAGTTCACAGGTTGAGACTGATGATGCTACACATGCACCGAAAGAGTATAAAAAGGTTTATTACTCACTTGATAAGATTTTGGGAGAGATC... | ATTGTTTTAAATAATTACATAATTGGAGATCATTTGTATACTAAAAAAGAAATGGTCATGAGGCGTCTGCACAGCTTCAGACAACTAGGATGAAAGAAAGGAAGCAAAGAAGGATGGGAGGAAGAAACATATATATACACACATATATATAATGGACTGAATATAGAATTTAACACCAAAATTGTTATGATCACATTGCAGGAGTGAGATGGATCCCTTACCCAAAATTCAGTTCACAGGTTGAGACTGATGATGCTACACATGCACCGAAAGAGTATAAAAAGGTTTATTACTCACTTGATAAGATTTTGGGAGAGATC... | pathogenic | 90,566 |
Clinical classification of chromosome 5, position 13766086, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia'] | CTTGAGCAATGCTGAATTGAAAACCAAAAGAAAGATGGTGCTGAATTCACAACTTGGGAAATAGAGGTGGACTGGGTATTCCCAATTAGTTGTTTTGAGATTTGAACATGAAAGAAAAGACAATAAAGCTTCCAGAAGAAAACTAGAAATCTGCCTTGGATGTGGGCAAAGATCTCCTAAACAGAACATAGAAAGCACTATTAGGGAAAATATTAAGAAATTGGACTACATTAAACCTAAGAATTTCTGTTTATCAAAAGACACCATTAATCGAGGGAACAACTAACGCCAGAAAGCAGCAGAAAATATTTGCAAACATA... | CTTGAGCAATGCTGAATTGAAAACCAAAAGAAAGATGGTGCTGAATTCACAACTTGGGAAATAGAGGTGGACTGGGTATTCCCAATTAGTTGTTTTGAGATTTGAACATGAAAGAAAAGACAATAAAGCTTCCAGAAGAAAACTAGAAATCTGCCTTGGATGTGGGCAAAGATCTCCTAAACAGAACATAGAAAGCACTATTAGGGAAAATATTAAGAAATTGGACTACATTAAACCTAAGAATTTCTGTTTATCAAAAGACACCATTAATCGAGGGAACAACTAACGCCAGAAAGCAGCAGAAAATATTTGCAAACATA... | pathogenic | 90,592 |
Mutation found at chromosome 5 position 13766086, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | CTTGAGCAATGCTGAATTGAAAACCAAAAGAAAGATGGTGCTGAATTCACAACTTGGGAAATAGAGGTGGACTGGGTATTCCCAATTAGTTGTTTTGAGATTTGAACATGAAAGAAAAGACAATAAAGCTTCCAGAAGAAAACTAGAAATCTGCCTTGGATGTGGGCAAAGATCTCCTAAACAGAACATAGAAAGCACTATTAGGGAAAATATTAAGAAATTGGACTACATTAAACCTAAGAATTTCTGTTTATCAAAAGACACCATTAATCGAGGGAACAACTAACGCCAGAAAGCAGCAGAAAATATTTGCAAACATA... | CTTGAGCAATGCTGAATTGAAAACCAAAAGAAAGATGGTGCTGAATTCACAACTTGGGAAATAGAGGTGGACTGGGTATTCCCAATTAGTTGTTTTGAGATTTGAACATGAAAGAAAAGACAATAAAGCTTCCAGAAGAAAACTAGAAATCTGCCTTGGATGTGGGCAAAGATCTCCTAAACAGAACATAGAAAGCACTATTAGGGAAAATATTAAGAAATTGGACTACATTAAACCTAAGAATTTCTGTTTATCAAAAGACACCATTAATCGAGGGAACAACTAACGCCAGAAAGCAGCAGAAAATATTTGCAAACATA... | pathogenic | 90,593 |
Is chromosome 5, position 13766096, gene DNAH5 (dynein axonemal heavy chain 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | GCTGAATTGAAAACCAAAAGAAAGATGGTGCTGAATTCACAACTTGGGAAATAGAGGTGGACTGGGTATTCCCAATTAGTTGTTTTGAGATTTGAACATGAAAGAAAAGACAATAAAGCTTCCAGAAGAAAACTAGAAATCTGCCTTGGATGTGGGCAAAGATCTCCTAAACAGAACATAGAAAGCACTATTAGGGAAAATATTAAGAAATTGGACTACATTAAACCTAAGAATTTCTGTTTATCAAAAGACACCATTAATCGAGGGAACAACTAACGCCAGAAAGCAGCAGAAAATATTTGCAAACATATAAATGACAA... | GCTGAATTGAAAACCAAAAGAAAGATGGTGCTGAATTCACAACTTGGGAAATAGAGGTGGACTGGGTATTCCCAATTAGTTGTTTTGAGATTTGAACATGAAAGAAAAGACAATAAAGCTTCCAGAAGAAAACTAGAAATCTGCCTTGGATGTGGGCAAAGATCTCCTAAACAGAACATAGAAAGCACTATTAGGGAAAATATTAAGAAATTGGACTACATTAAACCTAAGAATTTCTGTTTATCAAAAGACACCATTAATCGAGGGAACAACTAACGCCAGAAAGCAGCAGAAAATATTTGCAAACATATAAATGACAA... | pathogenic | 90,595 |
Variant at chromosome 5, position 13769051, gene DNAH5 (dynein axonemal heavy chain 5): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | CTTCACATAAAAGTGAATGATTTTTTTCTCCAAGGACTGAGGACAAAGAAAAAACACTAAACTTGGTAAATTAGGAATGTAATTACATACCTTGAAAAGGTTTGTATATATATATAGTTTTGCTTTTGTTTTTTATTTTGAGACCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCACTGGCGTAATCTCAGCTCACTGCAACCTCCCCCTCCCAGGTTCAAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCACACACCACCATGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCA... | CTTCACATAAAAGTGAATGATTTTTTTCTCCAAGGACTGAGGACAAAGAAAAAACACTAAACTTGGTAAATTAGGAATGTAATTACATACCTTGAAAAGGTTTGTATATATATATAGTTTTGCTTTTGTTTTTTATTTTGAGACCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCACTGGCGTAATCTCAGCTCACTGCAACCTCCCCCTCCCAGGTTCAAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCACACACCACCATGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCA... | pathogenic | 90,600 |
Assess the variant on chromosome 5, position 13769143, impacting DNAH5 (dynein axonemal heavy chain 5): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TGAAAAGGTTTGTATATATATATAGTTTTGCTTTTGTTTTTTATTTTGAGACCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCACTGGCGTAATCTCAGCTCACTGCAACCTCCCCCTCCCAGGTTCAAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCACACACCACCATGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACATCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCGTGAGCCAGC... | TGAAAAGGTTTGTATATATATATAGTTTTGCTTTTGTTTTTTATTTTGAGACCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCACTGGCGTAATCTCAGCTCACTGCAACCTCCCCCTCCCAGGTTCAAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCACACACCACCATGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACATCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCGTGAGCCAGC... | benign | 90,603 |
Does the variant on chromosome 5 at location 13769583 affecting gene DNAH5 (dynein axonemal heavy chain 5) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Primary_ciliary_dyskinesia'] | GTTATAAAAGAAAAGAGAAAAATAGAACAGCAGCCAGTGAGGAAAGTAGGGTAGGGTCAAATTAAAGTTATATAAAATGTAAGGGCTAGGCATGCTTACTTTACTTTAGCTTTAAAAATAATTTTCAAACAGCATGGTGCTCAGCTGTGTTAGATGCCCAGGTAAAAGAGGTTGGAGAGGGGAACAAAAACTCAACCTGTTTCACCTAAGCATTAAAGTCCTCTCTTTTCTGCAGGCCAAGAAATATGACTGTTATATAATCTCCTATATGCTGTGGCAATAGAACAGTTATCTAACATCTGGAGGTATTTTTTATTTTT... | GTTATAAAAGAAAAGAGAAAAATAGAACAGCAGCCAGTGAGGAAAGTAGGGTAGGGTCAAATTAAAGTTATATAAAATGTAAGGGCTAGGCATGCTTACTTTACTTTAGCTTTAAAAATAATTTTCAAACAGCATGGTGCTCAGCTGTGTTAGATGCCCAGGTAAAAGAGGTTGGAGAGGGGAACAAAAACTCAACCTGTTTCACCTAAGCATTAAAGTCCTCTCTTTTCTGCAGGCCAAGAAATATGACTGTTATATAATCTCCTATATGCTGTGGCAATAGAACAGTTATCTAACATCTGGAGGTATTTTTTATTTTT... | pathogenic | 90,609 |
A mutation at chromosome position 13769600 on chromosome 5 in gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | AAAAATAGAACAGCAGCCAGTGAGGAAAGTAGGGTAGGGTCAAATTAAAGTTATATAAAATGTAAGGGCTAGGCATGCTTACTTTACTTTAGCTTTAAAAATAATTTTCAAACAGCATGGTGCTCAGCTGTGTTAGATGCCCAGGTAAAAGAGGTTGGAGAGGGGAACAAAAACTCAACCTGTTTCACCTAAGCATTAAAGTCCTCTCTTTTCTGCAGGCCAAGAAATATGACTGTTATATAATCTCCTATATGCTGTGGCAATAGAACAGTTATCTAACATCTGGAGGTATTTTTTATTTTTGCTCTGAGCTGGTTAAA... | AAAAATAGAACAGCAGCCAGTGAGGAAAGTAGGGTAGGGTCAAATTAAAGTTATATAAAATGTAAGGGCTAGGCATGCTTACTTTACTTTAGCTTTAAAAATAATTTTCAAACAGCATGGTGCTCAGCTGTGTTAGATGCCCAGGTAAAAGAGGTTGGAGAGGGGAACAAAAACTCAACCTGTTTCACCTAAGCATTAAAGTCCTCTCTTTTCTGCAGGCCAAGAAATATGACTGTTATATAATCTCCTATATGCTGTGGCAATAGAACAGTTATCTAACATCTGGAGGTATTTTTTATTTTTGCTCTGAGCTGGTTAAA... | pathogenic | 90,611 |
Evaluate the clinical significance of the mutation at chromosome 5, position 13770839 in gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | CTATAAAGAGCTAATAAAGTCTCAAGCAGAAAATATTACTTGAAATCACTCAAGTGGATAGAGCTTTCATCTGAACCAGTAGAGCATTTCCTTGCTGTTATTCATCTTTTTAGCATTAGTCTGCCTCTTAAGCCCTAAAGCTGACATCTGTTATATCACATAGATGCACCTGCAATGCAGCTTCTGCCTCTTCTAAAGCTGGTTTTGCTGCTTCCAGTTTTTCTTCAGCAATGGCTTTGTCTTTAGAGATGCTGTCCACAATGGCCTGGGCCCTGTCCTTCACCTTCTGTACCTCAGCCTTGACCTTTTCAGCAGCCTGT... | CTATAAAGAGCTAATAAAGTCTCAAGCAGAAAATATTACTTGAAATCACTCAAGTGGATAGAGCTTTCATCTGAACCAGTAGAGCATTTCCTTGCTGTTATTCATCTTTTTAGCATTAGTCTGCCTCTTAAGCCCTAAAGCTGACATCTGTTATATCACATAGATGCACCTGCAATGCAGCTTCTGCCTCTTCTAAAGCTGGTTTTGCTGCTTCCAGTTTTTCTTCAGCAATGGCTTTGTCTTTAGAGATGCTGTCCACAATGGCCTGGGCCCTGTCCTTCACCTTCTGTACCTCAGCCTTGACCTTTTCAGCAGCCTGT... | pathogenic | 90,613 |
Clinically, how would you classify the variant at chromosome 5, position 13770904, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['DNAH5-related_disorder', 'Primary_ciliary_dyskinesia'] | TTCATCTGAACCAGTAGAGCATTTCCTTGCTGTTATTCATCTTTTTAGCATTAGTCTGCCTCTTAAGCCCTAAAGCTGACATCTGTTATATCACATAGATGCACCTGCAATGCAGCTTCTGCCTCTTCTAAAGCTGGTTTTGCTGCTTCCAGTTTTTCTTCAGCAATGGCTTTGTCTTTAGAGATGCTGTCCACAATGGCCTGGGCCCTGTCCTTCACCTTCTGTACCTCAGCCTTGACCTTTTCAGCAGCCTGTGCTTTCATTGTCACTTCTTTTAAGACCTAATTCAATATAAAGCAAGCAATACTTCACCAAACAGT... | TTCATCTGAACCAGTAGAGCATTTCCTTGCTGTTATTCATCTTTTTAGCATTAGTCTGCCTCTTAAGCCCTAAAGCTGACATCTGTTATATCACATAGATGCACCTGCAATGCAGCTTCTGCCTCTTCTAAAGCTGGTTTTGCTGCTTCCAGTTTTTCTTCAGCAATGGCTTTGTCTTTAGAGATGCTGTCCACAATGGCCTGGGCCCTGTCCTTCACCTTCTGTACCTCAGCCTTGACCTTTTCAGCAGCCTGTGCTTTCATTGTCACTTCTTTTAAGACCTAATTCAATATAAAGCAAGCAATACTTCACCAAACAGT... | pathogenic | 90,617 |
Assess the variant on chromosome 5, position 13776446, impacting DNAH5 (dynein axonemal heavy chain 5): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | TTGTGAAGCATCCATAAGAATGGACCAGGCAGGCAGTTGAGTACACAGATTTCAAGCCAGGAGACAGACTAGACCGGAGAAAAAATTGATGGCACGTATTATAAAGGAGGCTGTGGACGAGCTTTCCTGGGGAGAGACTCTGGAGTACAGAATTCAGTCTGTCTTGTGTCTGTTGACAAGTCTGTCTTGTCTTGAGTCTGTCCAATAACATCATGAAGCTCAATATGTACGTTCCGAATAAATGAACAAATAGATTAATGCATGAAGGTTGGGATATTTGCTAGCAACTGAGGATAAAGAAAGGAAAGTTTCTCTGCCCT... | TTGTGAAGCATCCATAAGAATGGACCAGGCAGGCAGTTGAGTACACAGATTTCAAGCCAGGAGACAGACTAGACCGGAGAAAAAATTGATGGCACGTATTATAAAGGAGGCTGTGGACGAGCTTTCCTGGGGAGAGACTCTGGAGTACAGAATTCAGTCTGTCTTGTGTCTGTTGACAAGTCTGTCTTGTCTTGAGTCTGTCCAATAACATCATGAAGCTCAATATGTACGTTCCGAATAAATGAACAAATAGATTAATGCATGAAGGTTGGGATATTTGCTAGCAACTGAGGATAAAGAAAGGAAAGTTTCTCTGCCCT... | pathogenic | 90,622 |
Mutation found at chromosome 5 position 13776539, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | ACGTATTATAAAGGAGGCTGTGGACGAGCTTTCCTGGGGAGAGACTCTGGAGTACAGAATTCAGTCTGTCTTGTGTCTGTTGACAAGTCTGTCTTGTCTTGAGTCTGTCCAATAACATCATGAAGCTCAATATGTACGTTCCGAATAAATGAACAAATAGATTAATGCATGAAGGTTGGGATATTTGCTAGCAACTGAGGATAAAGAAAGGAAAGTTTCTCTGCCCTCCATGTAATCTTGGTTTGTGTTGGTGTGATAAGATTTAAAAGAATGGGACAATGAGAAATTAACAAAGGAGGGATCAATAAGACCTTTGTCTA... | ACGTATTATAAAGGAGGCTGTGGACGAGCTTTCCTGGGGAGAGACTCTGGAGTACAGAATTCAGTCTGTCTTGTGTCTGTTGACAAGTCTGTCTTGTCTTGAGTCTGTCCAATAACATCATGAAGCTCAATATGTACGTTCCGAATAAATGAACAAATAGATTAATGCATGAAGGTTGGGATATTTGCTAGCAACTGAGGATAAAGAAAGGAAAGTTTCTCTGCCCTCCATGTAATCTTGGTTTGTGTTGGTGTGATAAGATTTAAAAGAATGGGACAATGAGAAATTAACAAAGGAGGGATCAATAAGACCTTTGTCTA... | pathogenic | 90,624 |
Mutation at chromosome 5, position 13777307, within DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | CACAAACATGTTAAAATATTCTGTGTTTAAAAGCCACAGATTGGAAAACCACTACTGTCAATAGTGAAGCGCTGAGAATAAAACTTCCCCAGTAGGTAAGAATTTGTTTTAAGAATAGGTAATTGATAGATAATCAATAAATAGATGATGGATAGATGGATGGATAGATAATAGACAGATAAAGATAGATGGATAGATAATGGATCGATGGATAGATAATTAATAGATATTTAGATAGATAATAGAGAGAGAAATACAGATAGATAGATAGACAGACAGACAGACAGACAGACAACCTAGGTTTCAGTCTCAGTACTGAT... | CACAAACATGTTAAAATATTCTGTGTTTAAAAGCCACAGATTGGAAAACCACTACTGTCAATAGTGAAGCGCTGAGAATAAAACTTCCCCAGTAGGTAAGAATTTGTTTTAAGAATAGGTAATTGATAGATAATCAATAAATAGATGATGGATAGATGGATGGATAGATAATAGACAGATAAAGATAGATGGATAGATAATGGATCGATGGATAGATAATTAATAGATATTTAGATAGATAATAGAGAGAGAAATACAGATAGATAGATAGACAGACAGACAGACAGACAGACAACCTAGGTTTCAGTCTCAGTACTGAT... | pathogenic | 90,632 |
Chromosome 5, position 13780910, gene DNAH5 (dynein axonemal heavy chain 5): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Primary_ciliary_dyskinesia'] | GTCTCATCAGTAATGGATCATTCCCAGTATGACATGCAGAGGAACTAGTCTGCCACAGTGAGAGTGGTGGTTGGGTATACTGGATGTGGCACTGTGGTGCAGTAAAAGTCACACAAGACTAGAAACCAGAAATCCTACAATCAATTCCCAGATAGATCAGAGATGTTGGGCAAGCCATAGCCTCTCTGAGCTTCAGCTGCAAGATGGGCTACTGCTATCTGTCCTACTAACTCACGAGGTTTTTTTGAAGATCAAATTAGCTCATGCATGTAAAAGTGCTTTGAAAACTACAAGGTTTTATACAAATGTTAGGAACAAAA... | GTCTCATCAGTAATGGATCATTCCCAGTATGACATGCAGAGGAACTAGTCTGCCACAGTGAGAGTGGTGGTTGGGTATACTGGATGTGGCACTGTGGTGCAGTAAAAGTCACACAAGACTAGAAACCAGAAATCCTACAATCAATTCCCAGATAGATCAGAGATGTTGGGCAAGCCATAGCCTCTCTGAGCTTCAGCTGCAAGATGGGCTACTGCTATCTGTCCTACTAACTCACGAGGTTTTTTTGAAGATCAAATTAGCTCATGCATGTAAAAGTGCTTTGAAAACTACAAGGTTTTATACAAATGTTAGGAACAAAA... | pathogenic | 90,636 |
Variant chromosome 5, position 13786212, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? Disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia'] | AGCTATGAAATCCCAGGTCATTCAGATTCTGTCTCCAGCAGGCAGGCTATTTGTCATGAAATTGCCTTTGGTAATACTCATTTGGAAAATATATTTTCCTTTCCTTTTTCTTCCTTTTAATTATTAAAAATGACAGAATGTTTATTCTTCCTGAAACAACTCTTAATCAACTATAAATTAAGAGCGAATTTCAAAATGTTATTTATAGTTGGCTTTGGAAGAATATTTGAGCTCATAATTCGGTACAGATGCCTCAGATTCTGAGAATCCACAGAGTTGCCAAGCCAAGTGCCCTCGTGCTGGGGAGACCCAACTCCTGA... | AGCTATGAAATCCCAGGTCATTCAGATTCTGTCTCCAGCAGGCAGGCTATTTGTCATGAAATTGCCTTTGGTAATACTCATTTGGAAAATATATTTTCCTTTCCTTTTTCTTCCTTTTAATTATTAAAAATGACAGAATGTTTATTCTTCCTGAAACAACTCTTAATCAACTATAAATTAAGAGCGAATTTCAAAATGTTATTTATAGTTGGCTTTGGAAGAATATTTGAGCTCATAATTCGGTACAGATGCCTCAGATTCTGAGAATCCACAGAGTTGCCAAGCCAAGTGCCCTCGTGCTGGGGAGACCCAACTCCTGA... | pathogenic | 90,642 |
Does the variant on chromosome 5 at location 13791994 affecting gene DNAH5 (dynein axonemal heavy chain 5) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['DNAH5-related_disorder', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | AAGAAGCTCAACATCACTCATCATTAGAGAAATGCAAATCAAAACTGCAATGAGATACAATATCACATCAGTCAGAAAGGCTATTATTAAAAAGTCAAAAATAACAGATGCTGGCAAGGTTGCAGAGAAAAGAGAACACATATATGCTATTGGTGGGAGTGTAAATTAGTTCAAGCATTGTGGAATGCACTATGGTGATTCCTCAAAGAGCTAAAAGCAGAACTACCATTTGACCCAGAAATCCCATTACAGGGTATATATACCCAGAGGAATATAAATCATTCTACTATGCACATGCACGTGAATGTTCATTGCAGCAC... | AAGAAGCTCAACATCACTCATCATTAGAGAAATGCAAATCAAAACTGCAATGAGATACAATATCACATCAGTCAGAAAGGCTATTATTAAAAAGTCAAAAATAACAGATGCTGGCAAGGTTGCAGAGAAAAGAGAACACATATATGCTATTGGTGGGAGTGTAAATTAGTTCAAGCATTGTGGAATGCACTATGGTGATTCCTCAAAGAGCTAAAAGCAGAACTACCATTTGACCCAGAAATCCCATTACAGGGTATATATACCCAGAGGAATATAAATCATTCTACTATGCACATGCACGTGAATGTTCATTGCAGCAC... | pathogenic | 90,649 |
Is the variant located on chromosome 5 at position 13792056, gene DNAH5 (dynein axonemal heavy chain 5), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | TCACATCAGTCAGAAAGGCTATTATTAAAAAGTCAAAAATAACAGATGCTGGCAAGGTTGCAGAGAAAAGAGAACACATATATGCTATTGGTGGGAGTGTAAATTAGTTCAAGCATTGTGGAATGCACTATGGTGATTCCTCAAAGAGCTAAAAGCAGAACTACCATTTGACCCAGAAATCCCATTACAGGGTATATATACCCAGAGGAATATAAATCATTCTACTATGCACATGCACGTGAATGTTCATTGCAGCACTATTCACAATAGCAAAGACACAGAATCAACCTAAATGCTCATCAGTGGCAGATTGGATAAAG... | TCACATCAGTCAGAAAGGCTATTATTAAAAAGTCAAAAATAACAGATGCTGGCAAGGTTGCAGAGAAAAGAGAACACATATATGCTATTGGTGGGAGTGTAAATTAGTTCAAGCATTGTGGAATGCACTATGGTGATTCCTCAAAGAGCTAAAAGCAGAACTACCATTTGACCCAGAAATCCCATTACAGGGTATATATACCCAGAGGAATATAAATCATTCTACTATGCACATGCACGTGAATGTTCATTGCAGCACTATTCACAATAGCAAAGACACAGAATCAACCTAAATGCTCATCAGTGGCAGATTGGATAAAG... | pathogenic | 90,651 |
Variant in gene DNAH5 (dynein axonemal heavy chain 5), located at chromosome 5 position 13792081: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | TAAAAAGTCAAAAATAACAGATGCTGGCAAGGTTGCAGAGAAAAGAGAACACATATATGCTATTGGTGGGAGTGTAAATTAGTTCAAGCATTGTGGAATGCACTATGGTGATTCCTCAAAGAGCTAAAAGCAGAACTACCATTTGACCCAGAAATCCCATTACAGGGTATATATACCCAGAGGAATATAAATCATTCTACTATGCACATGCACGTGAATGTTCATTGCAGCACTATTCACAATAGCAAAGACACAGAATCAACCTAAATGCTCATCAGTGGCAGATTGGATAAAGAAAATGTGTGACCTATACACCATGG... | TAAAAAGTCAAAAATAACAGATGCTGGCAAGGTTGCAGAGAAAAGAGAACACATATATGCTATTGGTGGGAGTGTAAATTAGTTCAAGCATTGTGGAATGCACTATGGTGATTCCTCAAAGAGCTAAAAGCAGAACTACCATTTGACCCAGAAATCCCATTACAGGGTATATATACCCAGAGGAATATAAATCATTCTACTATGCACATGCACGTGAATGTTCATTGCAGCACTATTCACAATAGCAAAGACACAGAATCAACCTAAATGCTCATCAGTGGCAGATTGGATAAAGAAAATGTGTGACCTATACACCATGG... | pathogenic | 90,653 |
Gene DNAH5 (dynein axonemal heavy chain 5) variant at chromosome position 13793713 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['DNAH5-related_disorder', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | GTTTCCATTATTTAGTATAAGAAACATATCTTCTTCTCATACTAGAACTGGGAAAATAAATCAATTGTTTCTTTTATTCTTTTCATTAAAAAATAATTGTGTATATGATGTTCTTAAAACACAAACCTAATTTAATTGGAATTTATCATTGACTGACATTTTCTGACATAATTTATTTCATTATGTTAGTTTAAAAGCAGTAAAGAATACCCATGCTGAAACATTCCAAAATATGTTCACAGTTCAAGTAAAAAATAAATCAATAAAAATATTTAGAATATATCATTAATAGCAATGTTATTTGTTTTTCTTTCTTCAGT... | GTTTCCATTATTTAGTATAAGAAACATATCTTCTTCTCATACTAGAACTGGGAAAATAAATCAATTGTTTCTTTTATTCTTTTCATTAAAAAATAATTGTGTATATGATGTTCTTAAAACACAAACCTAATTTAATTGGAATTTATCATTGACTGACATTTTCTGACATAATTTATTTCATTATGTTAGTTTAAAAGCAGTAAAGAATACCCATGCTGAAACATTCCAAAATATGTTCACAGTTCAAGTAAAAAATAAATCAATAAAAATATTTAGAATATATCATTAATAGCAATGTTATTTGTTTTTCTTTCTTCAGT... | pathogenic | 90,662 |
Located at chromosome 5 position 13794063, the variant affecting gene DNAH5 (dynein axonemal heavy chain 5)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TGAAGTAGTGTTCAGCATTCCCTGCCAGACCCGAGAAAGATCTCGTAGGTTAAACACATAATGGAATTTTGCAGGGGTAGGAAGCATTTTAATCTTGGTCATCTGCCATAGTCGGCGTGTCAGAGGCACCAATTTTGTCACAGAATCTCTCACTTCTTCTGAGAAACCCCTCTGAGTACAGTAGTGGCCTACCCCAATCACACCTGAAAAGGGGGAAATTACAGCATTTTGATTAGCCATTCAAAGAAATTAAATGAAAATGAAAAGCATTATAGCATAGGGTTTGCAAAAATGTCATTATACATTTTAATAGATAATCA... | TGAAGTAGTGTTCAGCATTCCCTGCCAGACCCGAGAAAGATCTCGTAGGTTAAACACATAATGGAATTTTGCAGGGGTAGGAAGCATTTTAATCTTGGTCATCTGCCATAGTCGGCGTGTCAGAGGCACCAATTTTGTCACAGAATCTCTCACTTCTTCTGAGAAACCCCTCTGAGTACAGTAGTGGCCTACCCCAATCACACCTGAAAAGGGGGAAATTACAGCATTTTGATTAGCCATTCAAAGAAATTAAATGAAAATGAAAAGCATTATAGCATAGGGTTTGCAAAAATGTCATTATACATTTTAATAGATAATCA... | benign | 90,668 |
For chromosome 5, position 13810164, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCAGACGTAGCAGTGAGCCCAGATTACACTATTGCACTCTAACCTGGGTGACAGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAGGAAATTTGTATACACAAAGAAACACCATGGGAAGAACACAGTGAGAAGGCAGCCATCTACCAGCCAAGGAGAGGCGCCTCTGAAGAACCCCAGCCTGCCAACACCTTCATCCTGGACTTTCAGCCTCCAGAACAGAGAGAAAAGAAACTGCTGTTGTTTAGGCCACCTAGGCTGCGGTATTTGG... | GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCAGACGTAGCAGTGAGCCCAGATTACACTATTGCACTCTAACCTGGGTGACAGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAGGAAATTTGTATACACAAAGAAACACCATGGGAAGAACACAGTGAGAAGGCAGCCATCTACCAGCCAAGGAGAGGCGCCTCTGAAGAACCCCAGCCTGCCAACACCTTCATCCTGGACTTTCAGCCTCCAGAACAGAGAGAAAAGAAACTGCTGTTGTTTAGGCCACCTAGGCTGCGGTATTTGG... | pathogenic | 90,678 |
The chromosome 5, position 13810168 genetic variant in gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['DNAH5-related_disorder', 'Primary_ciliary_dyskinesia_3'] | CTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCAGACGTAGCAGTGAGCCCAGATTACACTATTGCACTCTAACCTGGGTGACAGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAGGAAATTTGTATACACAAAGAAACACCATGGGAAGAACACAGTGAGAAGGCAGCCATCTACCAGCCAAGGAGAGGCGCCTCTGAAGAACCCCAGCCTGCCAACACCTTCATCCTGGACTTTCAGCCTCCAGAACAGAGAGAAAAGAAACTGCTGTTGTTTAGGCCACCTAGGCTGCGGTATTTGGTTAC... | CTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCAGACGTAGCAGTGAGCCCAGATTACACTATTGCACTCTAACCTGGGTGACAGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAGGAAATTTGTATACACAAAGAAACACCATGGGAAGAACACAGTGAGAAGGCAGCCATCTACCAGCCAAGGAGAGGCGCCTCTGAAGAACCCCAGCCTGCCAACACCTTCATCCTGGACTTTCAGCCTCCAGAACAGAGAGAAAAGAAACTGCTGTTGTTTAGGCCACCTAGGCTGCGGTATTTGGTTAC... | pathogenic | 90,679 |
Clinically, how would you classify the variant at chromosome 5, position 13810211, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Primary_ciliary_dyskinesia'] | GACGTAGCAGTGAGCCCAGATTACACTATTGCACTCTAACCTGGGTGACAGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAGGAAATTTGTATACACAAAGAAACACCATGGGAAGAACACAGTGAGAAGGCAGCCATCTACCAGCCAAGGAGAGGCGCCTCTGAAGAACCCCAGCCTGCCAACACCTTCATCCTGGACTTTCAGCCTCCAGAACAGAGAGAAAAGAAACTGCTGTTGTTTAGGCCACCTAGGCTGCGGTATTTGGTTACAGCAGCCCTAGCAAACTAGCTCAGCGATCAAAGCAGAAGGAAT... | GACGTAGCAGTGAGCCCAGATTACACTATTGCACTCTAACCTGGGTGACAGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAGGAAATTTGTATACACAAAGAAACACCATGGGAAGAACACAGTGAGAAGGCAGCCATCTACCAGCCAAGGAGAGGCGCCTCTGAAGAACCCCAGCCTGCCAACACCTTCATCCTGGACTTTCAGCCTCCAGAACAGAGAGAAAAGAAACTGCTGTTGTTTAGGCCACCTAGGCTGCGGTATTTGGTTACAGCAGCCCTAGCAAACTAGCTCAGCGATCAAAGCAGAAGGAAT... | pathogenic | 90,682 |
Located at chromosome 5 position 13814769, the variant affecting gene DNAH5 (dynein axonemal heavy chain 5)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | GGAGAATTTAGTCATTTGAGAAACCTAGTATTAAGAAACTGCATCTCATAAATACCACTTAACACACAGCGTTTCCTTAAGATGAGGCAAGTTCTCTTAAGGTCAAGAGATCAGCTCATTCTTCACCTCAGTATTCCAAGAAACAATTAGAGACTCTGAACAGAAGCAATAAAATGTTGATTCTGAATTATTCATTAGTTCATGAATTTACCATGATTCTACCTCGACAAAAACATAACATAGCACTTTTGAGTTGATGGAACCGAAAGACGACATTCACTAGGGCAGGTAACCAGGTTGGCTCCCTGAAGCTGACAGAT... | GGAGAATTTAGTCATTTGAGAAACCTAGTATTAAGAAACTGCATCTCATAAATACCACTTAACACACAGCGTTTCCTTAAGATGAGGCAAGTTCTCTTAAGGTCAAGAGATCAGCTCATTCTTCACCTCAGTATTCCAAGAAACAATTAGAGACTCTGAACAGAAGCAATAAAATGTTGATTCTGAATTATTCATTAGTTCATGAATTTACCATGATTCTACCTCGACAAAAACATAACATAGCACTTTTGAGTTGATGGAACCGAAAGACGACATTCACTAGGGCAGGTAACCAGGTTGGCTCCCTGAAGCTGACAGAT... | pathogenic | 90,696 |
Clinically, how would you classify the variant at chromosome 5, position 13820368, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['DNAH5-related_disorder', 'Primary_ciliary_dyskinesia'] | AGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCAAGGCGGGCAGATCATGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACACGGTGAAACCCCGTCTCTGCTGAAAATACAAAAATTAGCCAGGCATGGCGGAAGTGCCAAAGCACTTCCTTGCGTATATCATGTTCTCTCCAATCCCTCCTACTGACACAGACTCTTTTTTTCTGCTAAAAACATTTTTTATCAATCTGGTACTCAACCCTCAAGCCTCGGATGAAGTAGCACCTGGTCTGTATGCCTTTCTATAATTCCTTAGAGGATTTTCTCA... | AGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCAAGGCGGGCAGATCATGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACACGGTGAAACCCCGTCTCTGCTGAAAATACAAAAATTAGCCAGGCATGGCGGAAGTGCCAAAGCACTTCCTTGCGTATATCATGTTCTCTCCAATCCCTCCTACTGACACAGACTCTTTTTTTCTGCTAAAAACATTTTTTATCAATCTGGTACTCAACCCTCAAGCCTCGGATGAAGTAGCACCTGGTCTGTATGCCTTTCTATAATTCCTTAGAGGATTTTCTCA... | pathogenic | 90,709 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 13824269, gene DNAH5 (dynein axonemal heavy chain 5). What disease(s) is it linked to if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | GCTACATTTTGATTTCCTTTTTTTTTTTTCATTTGTTTGTTTGTTTTTGAGACAGAGTGTCCCTCTGTCACTCAGGCTGGAGTGCAGTGGTGTAATCACTGCTCACTGCAGCCTCAGCCTCCCAGGCTTAAGTGACCCTCCCACCTCAGCATCCAGAGTAGATGGGACTATAGGCACATGGCACCATGCCCAACTAATTTTTTGGATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCTAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCACTCACTTGGCCTCCCAGAGTGCAGGGATTACAGGCATGAGCCACC... | GCTACATTTTGATTTCCTTTTTTTTTTTTCATTTGTTTGTTTGTTTTTGAGACAGAGTGTCCCTCTGTCACTCAGGCTGGAGTGCAGTGGTGTAATCACTGCTCACTGCAGCCTCAGCCTCCCAGGCTTAAGTGACCCTCCCACCTCAGCATCCAGAGTAGATGGGACTATAGGCACATGGCACCATGCCCAACTAATTTTTTGGATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCTAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCACTCACTTGGCCTCCCAGAGTGCAGGGATTACAGGCATGAGCCACC... | pathogenic | 90,725 |
Variant at chromosome position 13829529, chromosome 5, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | GCTAACAATGCCTGTACCCCCATTGTATCTAGGGAGTAACTAACTTGCTTTTGATTTTACAGGCTCATAGGTAGAGGGGACTTGCCTTGTCTCAGATGAGACTTTGGACTTAGACTTTTGAGTTAATGCTGGAATGAGTTAAGACTTTGAGGGACTGTTGGAAGGGCACGACTGTATTATGAATTGTGAGGACATGAGATCTTGAAGGGGCCAGGGGCAAAATGATATGATTCAGCTGTGTTCCCACCCAAATCTCATCCCGAAGTGTAGTTCCATAATCCCCACATGTCACTGGAGGATCCCAGTGGAAGGTAATTTAA... | GCTAACAATGCCTGTACCCCCATTGTATCTAGGGAGTAACTAACTTGCTTTTGATTTTACAGGCTCATAGGTAGAGGGGACTTGCCTTGTCTCAGATGAGACTTTGGACTTAGACTTTTGAGTTAATGCTGGAATGAGTTAAGACTTTGAGGGACTGTTGGAAGGGCACGACTGTATTATGAATTGTGAGGACATGAGATCTTGAAGGGGCCAGGGGCAAAATGATATGATTCAGCTGTGTTCCCACCCAAATCTCATCCCGAAGTGTAGTTCCATAATCCCCACATGTCACTGGAGGATCCCAGTGGAAGGTAATTTAA... | pathogenic | 90,731 |
For chromosome 5, position 13829585, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia'] | TTACAGGCTCATAGGTAGAGGGGACTTGCCTTGTCTCAGATGAGACTTTGGACTTAGACTTTTGAGTTAATGCTGGAATGAGTTAAGACTTTGAGGGACTGTTGGAAGGGCACGACTGTATTATGAATTGTGAGGACATGAGATCTTGAAGGGGCCAGGGGCAAAATGATATGATTCAGCTGTGTTCCCACCCAAATCTCATCCCGAAGTGTAGTTCCATAATCCCCACATGTCACTGGAGGATCCCAGTGGAAGGTAATTTAATCATAGGGGCAGTTACCCTCATGTTGCTCTCATGATAGTGAGTTCTCATGAGATCT... | TTACAGGCTCATAGGTAGAGGGGACTTGCCTTGTCTCAGATGAGACTTTGGACTTAGACTTTTGAGTTAATGCTGGAATGAGTTAAGACTTTGAGGGACTGTTGGAAGGGCACGACTGTATTATGAATTGTGAGGACATGAGATCTTGAAGGGGCCAGGGGCAAAATGATATGATTCAGCTGTGTTCCCACCCAAATCTCATCCCGAAGTGTAGTTCCATAATCCCCACATGTCACTGGAGGATCCCAGTGGAAGGTAATTTAATCATAGGGGCAGTTACCCTCATGTTGCTCTCATGATAGTGAGTTCTCATGAGATCT... | pathogenic | 90,734 |
Gene DNAH5 (dynein axonemal heavy chain 5) variant at chromosome position 13829610 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Primary_ciliary_dyskinesia'] | TTGCCTTGTCTCAGATGAGACTTTGGACTTAGACTTTTGAGTTAATGCTGGAATGAGTTAAGACTTTGAGGGACTGTTGGAAGGGCACGACTGTATTATGAATTGTGAGGACATGAGATCTTGAAGGGGCCAGGGGCAAAATGATATGATTCAGCTGTGTTCCCACCCAAATCTCATCCCGAAGTGTAGTTCCATAATCCCCACATGTCACTGGAGGATCCCAGTGGAAGGTAATTTAATCATAGGGGCAGTTACCCTCATGTTGCTCTCATGATAGTGAGTTCTCATGAGATCTGACGGTTTTATAAGGGGCTTTTCCC... | TTGCCTTGTCTCAGATGAGACTTTGGACTTAGACTTTTGAGTTAATGCTGGAATGAGTTAAGACTTTGAGGGACTGTTGGAAGGGCACGACTGTATTATGAATTGTGAGGACATGAGATCTTGAAGGGGCCAGGGGCAAAATGATATGATTCAGCTGTGTTCCCACCCAAATCTCATCCCGAAGTGTAGTTCCATAATCCCCACATGTCACTGGAGGATCCCAGTGGAAGGTAATTTAATCATAGGGGCAGTTACCCTCATGTTGCTCTCATGATAGTGAGTTCTCATGAGATCTGACGGTTTTATAAGGGGCTTTTCCC... | pathogenic | 90,735 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 13829660, gene DNAH5 (dynein axonemal heavy chain 5). What disease(s) is it linked to if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | GAATGAGTTAAGACTTTGAGGGACTGTTGGAAGGGCACGACTGTATTATGAATTGTGAGGACATGAGATCTTGAAGGGGCCAGGGGCAAAATGATATGATTCAGCTGTGTTCCCACCCAAATCTCATCCCGAAGTGTAGTTCCATAATCCCCACATGTCACTGGAGGATCCCAGTGGAAGGTAATTTAATCATAGGGGCAGTTACCCTCATGTTGCTCTCATGATAGTGAGTTCTCATGAGATCTGACGGTTTTATAAGGGGCTTTTCCCCCTCTTCACTCAACACTTCTCCTTCCTGCCACCATGTGAAAAGGACGTGT... | GAATGAGTTAAGACTTTGAGGGACTGTTGGAAGGGCACGACTGTATTATGAATTGTGAGGACATGAGATCTTGAAGGGGCCAGGGGCAAAATGATATGATTCAGCTGTGTTCCCACCCAAATCTCATCCCGAAGTGTAGTTCCATAATCCCCACATGTCACTGGAGGATCCCAGTGGAAGGTAATTTAATCATAGGGGCAGTTACCCTCATGTTGCTCTCATGATAGTGAGTTCTCATGAGATCTGACGGTTTTATAAGGGGCTTTTCCCCCTCTTCACTCAACACTTCTCCTTCCTGCCACCATGTGAAAAGGACGTGT... | pathogenic | 90,738 |
Classify the chromosome 5 variant at position 13830658 affecting gene DNAH5 (dynein axonemal heavy chain 5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | AACCACTTTCCTTGCTGACTTTGAGAAAGTAAGTGGTCATGTTGGGGAAACCCATATAGCAAGGAACTATGCACAGCCTGTAGGAACTAAAGGTGGCCTCCAGAAAATAGCCAGCAAGAAATCGAAGCCCTCAGTCTTACACCCTCAACTAACAGAATTCTGCTAACAACCTGAGTGAGCTCAGAAGTAGATTGTCCCCATTCGAGCATCAGATGAAACCACAGCCCCAGCCAATACTTTGATTGTAGCCTTGTTAGACACAAACCACAGGACTCATTTCAGCTAACTCCTGACCCACAGACACCATGTAGTAATAAATG... | AACCACTTTCCTTGCTGACTTTGAGAAAGTAAGTGGTCATGTTGGGGAAACCCATATAGCAAGGAACTATGCACAGCCTGTAGGAACTAAAGGTGGCCTCCAGAAAATAGCCAGCAAGAAATCGAAGCCCTCAGTCTTACACCCTCAACTAACAGAATTCTGCTAACAACCTGAGTGAGCTCAGAAGTAGATTGTCCCCATTCGAGCATCAGATGAAACCACAGCCCCAGCCAATACTTTGATTGTAGCCTTGTTAGACACAAACCACAGGACTCATTTCAGCTAACTCCTGACCCACAGACACCATGTAGTAATAAATG... | pathogenic | 90,753 |
Evaluate if the mutation on chromosome 5 at position 13830763 in DNAH5 (dynein axonemal heavy chain 5) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | AATAGCCAGCAAGAAATCGAAGCCCTCAGTCTTACACCCTCAACTAACAGAATTCTGCTAACAACCTGAGTGAGCTCAGAAGTAGATTGTCCCCATTCGAGCATCAGATGAAACCACAGCCCCAGCCAATACTTTGATTGTAGCCTTGTTAGACACAAACCACAGGACTCATTTCAGCTAACTCCTGACCCACAGACACCATGTAGTAATAAATGTACGTTGTTACAAGACACAAAGTTTGTGGTATGATTGTTAGATGACTATTATGCAGCAATAGATAACTAATGCAGAACTATATGTTTAATTCCATGACTTTTAAC... | AATAGCCAGCAAGAAATCGAAGCCCTCAGTCTTACACCCTCAACTAACAGAATTCTGCTAACAACCTGAGTGAGCTCAGAAGTAGATTGTCCCCATTCGAGCATCAGATGAAACCACAGCCCCAGCCAATACTTTGATTGTAGCCTTGTTAGACACAAACCACAGGACTCATTTCAGCTAACTCCTGACCCACAGACACCATGTAGTAATAAATGTACGTTGTTACAAGACACAAAGTTTGTGGTATGATTGTTAGATGACTATTATGCAGCAATAGATAACTAATGCAGAACTATATGTTTAATTCCATGACTTTTAAC... | pathogenic | 90,759 |
Is the genetic variant on chromosome 5, position 13840948, gene DNAH5 (dynein axonemal heavy chain 5), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | AAGGGAAGAGTTAACACTCTGGAGGCCTTTCCAGTGCCCTCTCCCAACTTTTACCTGCATTGATACTCAATTTCTTTCCTGCTTAAAAAAAAAAAAAAGAAAATCTTAATTGTCTCCCAGTAAGAACAGATACTCAAGCAGCCCCCGCAAGGCCCACTGTGATTTGCACCTGACAACACACAAAAATTAATTCCCTTTCTTGCCCATTCTCTGTCCACACAGTGTTTACACATTTAAACTCTGCCTCTATAAGACTGAAGGCAAAGGAAGCAAGGTCTGTGTCAGTCACAAACCTAAATCCCATGTGAAAAGAAAGCTGA... | AAGGGAAGAGTTAACACTCTGGAGGCCTTTCCAGTGCCCTCTCCCAACTTTTACCTGCATTGATACTCAATTTCTTTCCTGCTTAAAAAAAAAAAAAAGAAAATCTTAATTGTCTCCCAGTAAGAACAGATACTCAAGCAGCCCCCGCAAGGCCCACTGTGATTTGCACCTGACAACACACAAAAATTAATTCCCTTTCTTGCCCATTCTCTGTCCACACAGTGTTTACACATTTAAACTCTGCCTCTATAAGACTGAAGGCAAAGGAAGCAAGGTCTGTGTCAGTCACAAACCTAAATCCCATGTGAAAAGAAAGCTGA... | pathogenic | 90,769 |
Is the chromosome 5, position 13841051 variant in DNAH5 (dynein axonemal heavy chain 5) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | TCTTAATTGTCTCCCAGTAAGAACAGATACTCAAGCAGCCCCCGCAAGGCCCACTGTGATTTGCACCTGACAACACACAAAAATTAATTCCCTTTCTTGCCCATTCTCTGTCCACACAGTGTTTACACATTTAAACTCTGCCTCTATAAGACTGAAGGCAAAGGAAGCAAGGTCTGTGTCAGTCACAAACCTAAATCCCATGTGAAAAGAAAGCTGATAATAAAGCTAAAAATACTAAATTTCAAAGGTTTTAGTATAAAGAGCCTATAAACCCTAAGAGACTTTAAGCAAAAATCCCCTGAGCAACTCGAGAGAATAAA... | TCTTAATTGTCTCCCAGTAAGAACAGATACTCAAGCAGCCCCCGCAAGGCCCACTGTGATTTGCACCTGACAACACACAAAAATTAATTCCCTTTCTTGCCCATTCTCTGTCCACACAGTGTTTACACATTTAAACTCTGCCTCTATAAGACTGAAGGCAAAGGAAGCAAGGTCTGTGTCAGTCACAAACCTAAATCCCATGTGAAAAGAAAGCTGATAATAAAGCTAAAAATACTAAATTTCAAAGGTTTTAGTATAAAGAGCCTATAAACCCTAAGAGACTTTAAGCAAAAATCCCCTGAGCAACTCGAGAGAATAAA... | pathogenic | 90,774 |
Is the genetic change at chromosome 5, position 13841918, within gene DNAH5 (dynein axonemal heavy chain 5) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GCATGTTTTGACACACAAAGACAGCAATAAACAATCTCATTAGGAAAAAGACATCTCTTAAGACTATAACAAAGTACGCTGTTGGGGTTTTTTAATCCAGTAATTATTTTTCCCAAGAATTACATCGGGCCAAAATTTCTAACATCTAAATGACAGGCCATTGCCTGGAAATGCTTTTGTCCAGATTTTTTAACCAAAATTTTAAGCCACTTTCATCATTTTCTTTGACAAAGAAGAAATCTAAAATTAGCCTGAGCCCTTTATTCCTCGGAAAGGTAAGTAGTGTGCTTAACTATTAAGACAGGAGATTAGCACACAAT... | GCATGTTTTGACACACAAAGACAGCAATAAACAATCTCATTAGGAAAAAGACATCTCTTAAGACTATAACAAAGTACGCTGTTGGGGTTTTTTAATCCAGTAATTATTTTTCCCAAGAATTACATCGGGCCAAAATTTCTAACATCTAAATGACAGGCCATTGCCTGGAAATGCTTTTGTCCAGATTTTTTAACCAAAATTTTAAGCCACTTTCATCATTTTCTTTGACAAAGAAGAAATCTAAAATTAGCCTGAGCCCTTTATTCCTCGGAAAGGTAAGTAGTGTGCTTAACTATTAAGACAGGAGATTAGCACACAAT... | benign | 90,781 |
Evaluate this variant at chromosome 5, position 13841918, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GCATGTTTTGACACACAAAGACAGCAATAAACAATCTCATTAGGAAAAAGACATCTCTTAAGACTATAACAAAGTACGCTGTTGGGGTTTTTTAATCCAGTAATTATTTTTCCCAAGAATTACATCGGGCCAAAATTTCTAACATCTAAATGACAGGCCATTGCCTGGAAATGCTTTTGTCCAGATTTTTTAACCAAAATTTTAAGCCACTTTCATCATTTTCTTTGACAAAGAAGAAATCTAAAATTAGCCTGAGCCCTTTATTCCTCGGAAAGGTAAGTAGTGTGCTTAACTATTAAGACAGGAGATTAGCACACAAT... | GCATGTTTTGACACACAAAGACAGCAATAAACAATCTCATTAGGAAAAAGACATCTCTTAAGACTATAACAAAGTACGCTGTTGGGGTTTTTTAATCCAGTAATTATTTTTCCCAAGAATTACATCGGGCCAAAATTTCTAACATCTAAATGACAGGCCATTGCCTGGAAATGCTTTTGTCCAGATTTTTTAACCAAAATTTTAAGCCACTTTCATCATTTTCTTTGACAAAGAAGAAATCTAAAATTAGCCTGAGCCCTTTATTCCTCGGAAAGGTAAGTAGTGTGCTTAACTATTAAGACAGGAGATTAGCACACAAT... | benign | 90,782 |
Is the chromosome 5, position 13844997 variant in DNAH5 (dynein axonemal heavy chain 5) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TGAAAGACACTTAAATTATCTTCCATACAACTTGAGACAGTGAGAAGCTTTGCTCCTGGGCCATGATGTCCTAGTGCCATGGCAGAGGATTTAAGCGAAACATCAGAAAGAATTTTCTGATGAATTTAGTCCCTTCTTTCAACCCACACATCCCATAAAACAACAAGAAACATTGATTTTTGAACCATTAAAATCCATCCTGTTTTCCTTCCTCTCTGTCCCCTCTAACAAAGCCTTGTTACAGCTGTTCAGCCTTTTTTATCCTGATTTTGCAATGGCTTCTTACATTGATTTCCTTGCCCCCTTTCATTCCGCCTCCT... | TGAAAGACACTTAAATTATCTTCCATACAACTTGAGACAGTGAGAAGCTTTGCTCCTGGGCCATGATGTCCTAGTGCCATGGCAGAGGATTTAAGCGAAACATCAGAAAGAATTTTCTGATGAATTTAGTCCCTTCTTTCAACCCACACATCCCATAAAACAACAAGAAACATTGATTTTTGAACCATTAAAATCCATCCTGTTTTCCTTCCTCTCTGTCCCCTCTAACAAAGCCTTGTTACAGCTGTTCAGCCTTTTTTATCCTGATTTTGCAATGGCTTCTTACATTGATTTCCTTGCCCCCTTTCATTCCGCCTCCT... | benign | 90,794 |
Located at chromosome 5 position 13845006, the variant affecting gene DNAH5 (dynein axonemal heavy chain 5)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CTTAAATTATCTTCCATACAACTTGAGACAGTGAGAAGCTTTGCTCCTGGGCCATGATGTCCTAGTGCCATGGCAGAGGATTTAAGCGAAACATCAGAAAGAATTTTCTGATGAATTTAGTCCCTTCTTTCAACCCACACATCCCATAAAACAACAAGAAACATTGATTTTTGAACCATTAAAATCCATCCTGTTTTCCTTCCTCTCTGTCCCCTCTAACAAAGCCTTGTTACAGCTGTTCAGCCTTTTTTATCCTGATTTTGCAATGGCTTCTTACATTGATTTCCTTGCCCCCTTTCATTCCGCCTCCTACACTGTAC... | CTTAAATTATCTTCCATACAACTTGAGACAGTGAGAAGCTTTGCTCCTGGGCCATGATGTCCTAGTGCCATGGCAGAGGATTTAAGCGAAACATCAGAAAGAATTTTCTGATGAATTTAGTCCCTTCTTTCAACCCACACATCCCATAAAACAACAAGAAACATTGATTTTTGAACCATTAAAATCCATCCTGTTTTCCTTCCTCTCTGTCCCCTCTAACAAAGCCTTGTTACAGCTGTTCAGCCTTTTTTATCCTGATTTTGCAATGGCTTCTTACATTGATTTCCTTGCCCCCTTTCATTCCGCCTCCTACACTGTAC... | benign | 90,796 |
Mutation found at chromosome 5 position 13862641, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | AATAAGGTCACACCTGGGAAAGACAGATGAGTGAGCCAGACCAAGCTTGGGTCCCTGATGATGTGGTAAAGCCCCCATTCCAACCTGAACCACCTACATTAGGAATTCTTTTATGCGTGAGCAATATAAACATCAGTGTTATATTAGCCATTTTGTATGTGGTGTTTCTGTTATTTACAGACAAACTTAATCCTAAATGATTATACAGCCTACCTTTGTGTCTCTTCTTCTCTTTCTTATCCCTTCATGGTTCTCTCTAGCCCTACATAATATGGACTTGAAGTCGTATTATTGCATAAAAGTTTAATTTCCATATTCTT... | AATAAGGTCACACCTGGGAAAGACAGATGAGTGAGCCAGACCAAGCTTGGGTCCCTGATGATGTGGTAAAGCCCCCATTCCAACCTGAACCACCTACATTAGGAATTCTTTTATGCGTGAGCAATATAAACATCAGTGTTATATTAGCCATTTTGTATGTGGTGTTTCTGTTATTTACAGACAAACTTAATCCTAAATGATTATACAGCCTACCTTTGTGTCTCTTCTTCTCTTTCTTATCCCTTCATGGTTCTCTCTAGCCCTACATAATATGGACTTGAAGTCGTATTATTGCATAAAAGTTTAATTTCCATATTCTT... | pathogenic | 90,824 |
For chromosome 5, position 13862648, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia'] | TCACACCTGGGAAAGACAGATGAGTGAGCCAGACCAAGCTTGGGTCCCTGATGATGTGGTAAAGCCCCCATTCCAACCTGAACCACCTACATTAGGAATTCTTTTATGCGTGAGCAATATAAACATCAGTGTTATATTAGCCATTTTGTATGTGGTGTTTCTGTTATTTACAGACAAACTTAATCCTAAATGATTATACAGCCTACCTTTGTGTCTCTTCTTCTCTTTCTTATCCCTTCATGGTTCTCTCTAGCCCTACATAATATGGACTTGAAGTCGTATTATTGCATAAAAGTTTAATTTCCATATTCTTAATTGTT... | TCACACCTGGGAAAGACAGATGAGTGAGCCAGACCAAGCTTGGGTCCCTGATGATGTGGTAAAGCCCCCATTCCAACCTGAACCACCTACATTAGGAATTCTTTTATGCGTGAGCAATATAAACATCAGTGTTATATTAGCCATTTTGTATGTGGTGTTTCTGTTATTTACAGACAAACTTAATCCTAAATGATTATACAGCCTACCTTTGTGTCTCTTCTTCTCTTTCTTATCCCTTCATGGTTCTCTCTAGCCCTACATAATATGGACTTGAAGTCGTATTATTGCATAAAAGTTTAATTTCCATATTCTTAATTGTT... | pathogenic | 90,825 |
The mutation in gene DNAH5 (dynein axonemal heavy chain 5) at chromosome 5, position 13864592—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | CCACCTGTTGCTCAGTAGGGATCCCAGCAACATCAAGCTGTCCTCCATGTTGGCGATGATTTCCGAGGTACTGTCTCCTCTCAAGAGGAGCTCTCCACGGGTTTTAAAGCTGCCGAAGGTGAATGTTTTATTGTCCCATTCATTAATCACTTGCTTCAGCTTTTGCTCAATGTCTCTCTCTTTCACCGCACTGATACAGATGTCCTATCAAAATGGCAAGCTCTCATGTTATTGCATGAAAGTCACACGTCCTTCCTTAATAGTCTACGTGCAATACCCCATCTTCACTATTTGCTTCATATATATATAAATATATATAT... | CCACCTGTTGCTCAGTAGGGATCCCAGCAACATCAAGCTGTCCTCCATGTTGGCGATGATTTCCGAGGTACTGTCTCCTCTCAAGAGGAGCTCTCCACGGGTTTTAAAGCTGCCGAAGGTGAATGTTTTATTGTCCCATTCATTAATCACTTGCTTCAGCTTTTGCTCAATGTCTCTCTCTTTCACCGCACTGATACAGATGTCCTATCAAAATGGCAAGCTCTCATGTTATTGCATGAAAGTCACACGTCCTTCCTTAATAGTCTACGTGCAATACCCCATCTTCACTATTTGCTTCATATATATATAAATATATATAT... | pathogenic | 90,837 |
Evaluate if the mutation on chromosome 5 at position 13864638 in DNAH5 (dynein axonemal heavy chain 5) is benign or pathogenic. Disease name(s) if pathogenic? | benign | ATGTTGGCGATGATTTCCGAGGTACTGTCTCCTCTCAAGAGGAGCTCTCCACGGGTTTTAAAGCTGCCGAAGGTGAATGTTTTATTGTCCCATTCATTAATCACTTGCTTCAGCTTTTGCTCAATGTCTCTCTCTTTCACCGCACTGATACAGATGTCCTATCAAAATGGCAAGCTCTCATGTTATTGCATGAAAGTCACACGTCCTTCCTTAATAGTCTACGTGCAATACCCCATCTTCACTATTTGCTTCATATATATATAAATATATATATAAACTTTTATATTTCCAGACCTAAAATGCAATATAATAAACAGAAG... | ATGTTGGCGATGATTTCCGAGGTACTGTCTCCTCTCAAGAGGAGCTCTCCACGGGTTTTAAAGCTGCCGAAGGTGAATGTTTTATTGTCCCATTCATTAATCACTTGCTTCAGCTTTTGCTCAATGTCTCTCTCTTTCACCGCACTGATACAGATGTCCTATCAAAATGGCAAGCTCTCATGTTATTGCATGAAAGTCACACGTCCTTCCTTAATAGTCTACGTGCAATACCCCATCTTCACTATTTGCTTCATATATATATAAATATATATATAAACTTTTATATTTCCAGACCTAAAATGCAATATAATAAACAGAAG... | benign | 90,841 |
Clinical classification of chromosome 5, position 13865708, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | GCTACTCTTAGAAACTCTCAGTTGGTTTTTCCATCATTCTTCCCTTGTCCTCCTTCAATTATTTCTCCAAAGATCACTACCAGAGTGATCCTTACAAACGGTCAACCTAACCATGTCAGCCCCTGCTGAAAACACACCTCCCAGCTGGTGCCCATTGCTCGATAACATCATGTAGGCCCACTCCACCTCCCTGGCCTCTGCTGTCTCCTCTCTGCCCTGCCTCCACGCCTCAGCCACATGGGCCTTCTTCTGGTTCCTCAAACACACTTCAGATGCTCCATGCATAATGCACCATCTGCCTGGAATGGCCTTCTTTGCAC... | GCTACTCTTAGAAACTCTCAGTTGGTTTTTCCATCATTCTTCCCTTGTCCTCCTTCAATTATTTCTCCAAAGATCACTACCAGAGTGATCCTTACAAACGGTCAACCTAACCATGTCAGCCCCTGCTGAAAACACACCTCCCAGCTGGTGCCCATTGCTCGATAACATCATGTAGGCCCACTCCACCTCCCTGGCCTCTGCTGTCTCCTCTCTGCCCTGCCTCCACGCCTCAGCCACATGGGCCTTCTTCTGGTTCCTCAAACACACTTCAGATGCTCCATGCATAATGCACCATCTGCCTGGAATGGCCTTCTTTGCAC... | pathogenic | 90,848 |
Is chromosome 5, position 13867616, gene DNAH5 (dynein axonemal heavy chain 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CTTTTGAAATAGCTGGGGTGAAAAGAGAACTTGGCTGCCTATCAAAGAGGAAAGCATTTGAAGTTCAATTGCTGGGCATGCTAAACATTTAATTTCTTACCTGTTCTGGAATTCTAAGAGTTCATTGTTAATTTTTTCAATATTCACCTCTGACCAAAGAATATCATAATAGCTATTTACAGTTTCTATGACACTGTTGTACAGAGTATATATTTTCTGTAGAAGATTTAGTTGCTTCTTTATTTCAAGAAGCTGAGGATACTGTGTAGCTGGCAGGCCAAAAAGCTCCTCTCCTCCAGTATATGTGATGTATTTCCGAT... | CTTTTGAAATAGCTGGGGTGAAAAGAGAACTTGGCTGCCTATCAAAGAGGAAAGCATTTGAAGTTCAATTGCTGGGCATGCTAAACATTTAATTTCTTACCTGTTCTGGAATTCTAAGAGTTCATTGTTAATTTTTTCAATATTCACCTCTGACCAAAGAATATCATAATAGCTATTTACAGTTTCTATGACACTGTTGTACAGAGTATATATTTTCTGTAGAAGATTTAGTTGCTTCTTTATTTCAAGAAGCTGAGGATACTGTGTAGCTGGCAGGCCAAAAAGCTCCTCTCCTCCAGTATATGTGATGTATTTCCGAT... | benign | 90,861 |
Variant on chromosome 5, at position 13867616, affecting DNAH5 (dynein axonemal heavy chain 5): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTTTTGAAATAGCTGGGGTGAAAAGAGAACTTGGCTGCCTATCAAAGAGGAAAGCATTTGAAGTTCAATTGCTGGGCATGCTAAACATTTAATTTCTTACCTGTTCTGGAATTCTAAGAGTTCATTGTTAATTTTTTCAATATTCACCTCTGACCAAAGAATATCATAATAGCTATTTACAGTTTCTATGACACTGTTGTACAGAGTATATATTTTCTGTAGAAGATTTAGTTGCTTCTTTATTTCAAGAAGCTGAGGATACTGTGTAGCTGGCAGGCCAAAAAGCTCCTCTCCTCCAGTATATGTGATGTATTTCCGAT... | CTTTTGAAATAGCTGGGGTGAAAAGAGAACTTGGCTGCCTATCAAAGAGGAAAGCATTTGAAGTTCAATTGCTGGGCATGCTAAACATTTAATTTCTTACCTGTTCTGGAATTCTAAGAGTTCATTGTTAATTTTTTCAATATTCACCTCTGACCAAAGAATATCATAATAGCTATTTACAGTTTCTATGACACTGTTGTACAGAGTATATATTTTCTGTAGAAGATTTAGTTGCTTCTTTATTTCAAGAAGCTGAGGATACTGTGTAGCTGGCAGGCCAAAAAGCTCCTCTCCTCCAGTATATGTGATGTATTTCCGAT... | benign | 90,862 |
Is the variant located on chromosome 5 at position 13867616, gene DNAH5 (dynein axonemal heavy chain 5), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CTTTTGAAATAGCTGGGGTGAAAAGAGAACTTGGCTGCCTATCAAAGAGGAAAGCATTTGAAGTTCAATTGCTGGGCATGCTAAACATTTAATTTCTTACCTGTTCTGGAATTCTAAGAGTTCATTGTTAATTTTTTCAATATTCACCTCTGACCAAAGAATATCATAATAGCTATTTACAGTTTCTATGACACTGTTGTACAGAGTATATATTTTCTGTAGAAGATTTAGTTGCTTCTTTATTTCAAGAAGCTGAGGATACTGTGTAGCTGGCAGGCCAAAAAGCTCCTCTCCTCCAGTATATGTGATGTATTTCCGAT... | CTTTTGAAATAGCTGGGGTGAAAAGAGAACTTGGCTGCCTATCAAAGAGGAAAGCATTTGAAGTTCAATTGCTGGGCATGCTAAACATTTAATTTCTTACCTGTTCTGGAATTCTAAGAGTTCATTGTTAATTTTTTCAATATTCACCTCTGACCAAAGAATATCATAATAGCTATTTACAGTTTCTATGACACTGTTGTACAGAGTATATATTTTCTGTAGAAGATTTAGTTGCTTCTTTATTTCAAGAAGCTGAGGATACTGTGTAGCTGGCAGGCCAAAAAGCTCCTCTCCTCCAGTATATGTGATGTATTTCCGAT... | benign | 90,863 |
Considering the genetic mutation at chromosome 5, position 13867994, impacting DNAH5 (dynein axonemal heavy chain 5): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TACATGATCAACATACAAATGAAAATATAAGATTTGCAAACAAGCAAGCCAGAGATGTATGATCTCTGGGCACATGTAAATAGGAATACTAAGTTGGCATAATTAATTCATAGAAACTACTTCTAATTGTAATCCTACAATATCGTATTTTTAATGCAAGTACATACCATATTCCACAATAGGGCCCTCTATCTTACAAAGAAGAAAACATATGTGTGTTTAAAACACAACAAAGTTTCATTGTTTAGAAAGTCATAGAAACTAAAAAGATTACCTGAAACATGATAAGCCTGTCACTGGCTTCCTGGGGCTTCAAGCCG... | TACATGATCAACATACAAATGAAAATATAAGATTTGCAAACAAGCAAGCCAGAGATGTATGATCTCTGGGCACATGTAAATAGGAATACTAAGTTGGCATAATTAATTCATAGAAACTACTTCTAATTGTAATCCTACAATATCGTATTTTTAATGCAAGTACATACCATATTCCACAATAGGGCCCTCTATCTTACAAAGAAGAAAACATATGTGTGTTTAAAACACAACAAAGTTTCATTGTTTAGAAAGTCATAGAAACTAAAAAGATTACCTGAAACATGATAAGCCTGTCACTGGCTTCCTGGGGCTTCAAGCCG... | benign | 90,876 |
Variant at chromosome position 13871571, chromosome 5, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['DNAH5-related_disorder', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | GACATGCACCAACAATTATGATTATGGAAAGTTATTAATGATATTAATAATTCACACTCTTACTCATTTCTAATGATGATATAAATATTACAAGATGAATAAAAATGGAATTCAAAATTACACACACATACACAGACATTAAAAGGAGCTGGAAAGAAATATACCAACCTCTTGGTATGTACTTGATTGACAATATTATGGTAATTCTGAAGTTTTGTTTTATACAATCGTTTTGTGTTTTCTAATTTTTCTACAATGCTACTTTTTAATTAGGGAAAAAAGAGTTTGTTTGTTTGTTTGTTTGTTTTAAAAAAAAGGCT... | GACATGCACCAACAATTATGATTATGGAAAGTTATTAATGATATTAATAATTCACACTCTTACTCATTTCTAATGATGATATAAATATTACAAGATGAATAAAAATGGAATTCAAAATTACACACACATACACAGACATTAAAAGGAGCTGGAAAGAAATATACCAACCTCTTGGTATGTACTTGATTGACAATATTATGGTAATTCTGAAGTTTTGTTTTATACAATCGTTTTGTGTTTTCTAATTTTTCTACAATGCTACTTTTTAATTAGGGAAAAAAGAGTTTGTTTGTTTGTTTGTTTGTTTTAAAAAAAAGGCT... | pathogenic | 90,885 |
Regarding the variant at chromosome 5 and position 13871695, affecting gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | CACATACACAGACATTAAAAGGAGCTGGAAAGAAATATACCAACCTCTTGGTATGTACTTGATTGACAATATTATGGTAATTCTGAAGTTTTGTTTTATACAATCGTTTTGTGTTTTCTAATTTTTCTACAATGCTACTTTTTAATTAGGGAAAAAAGAGTTTGTTTGTTTGTTTGTTTGTTTTAAAAAAAAGGCTGTTGCTAAGACTGATTTTGCTGGTGGCCTAACATGAGATTTCTAAGGAGACTCCTTAGAAAGAGATGATGTTTACTCAAGTGAATCTATTCAAGGGTGTCTGCTTGTAATGAAATCAACTGTCT... | CACATACACAGACATTAAAAGGAGCTGGAAAGAAATATACCAACCTCTTGGTATGTACTTGATTGACAATATTATGGTAATTCTGAAGTTTTGTTTTATACAATCGTTTTGTGTTTTCTAATTTTTCTACAATGCTACTTTTTAATTAGGGAAAAAAGAGTTTGTTTGTTTGTTTGTTTGTTTTAAAAAAAAGGCTGTTGCTAAGACTGATTTTGCTGGTGGCCTAACATGAGATTTCTAAGGAGACTCCTTAGAAAGAGATGATGTTTACTCAAGTGAATCTATTCAAGGGTGTCTGCTTGTAATGAAATCAACTGTCT... | pathogenic | 90,887 |
A genetic variant on chromosome 5, position 13876737, affects the gene DNAH5 (dynein axonemal heavy chain 5). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Primary_ciliary_dyskinesia'] | TGTGTTTTTAGTGGAAACATAGTTTTACCATATTGGCTAGGCTGGTCTCAAACTCCCAGCCTCAAGTGATCCCCCACCTTGGCCTCTCAAAGTGCTGACATTACAGACATGGGCCACTACATCCAGCCTCAGCTCATCCTTTTAAGCCAGGTTGTGTTAGAAGTTGATGACCAACCTATGGGCATGCTAAAGGCAGGTCAGGTTTACATTCTAATCCAATCAGCTATAGCAACAGGAAAGGGGCAGGGATCATAGGACTTTCTGTGGTTGAGGCAGAATCATTCAGAAAGGTCTATGGCTGTGGAGGGCTGGCTATATCT... | TGTGTTTTTAGTGGAAACATAGTTTTACCATATTGGCTAGGCTGGTCTCAAACTCCCAGCCTCAAGTGATCCCCCACCTTGGCCTCTCAAAGTGCTGACATTACAGACATGGGCCACTACATCCAGCCTCAGCTCATCCTTTTAAGCCAGGTTGTGTTAGAAGTTGATGACCAACCTATGGGCATGCTAAAGGCAGGTCAGGTTTACATTCTAATCCAATCAGCTATAGCAACAGGAAAGGGGCAGGGATCATAGGACTTTCTGTGGTTGAGGCAGAATCATTCAGAAAGGTCTATGGCTGTGGAGGGCTGGCTATATCT... | pathogenic | 90,895 |
Clinically, how would you classify the variant at chromosome 5, position 13883037, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Primary_ciliary_dyskinesia'] | AAAATAAAGTTCATATAAATGAAAAAACAAAATAGACTTAACATCAAAAAGTGTAAAAAGAGACAAAGATCATCATATAATAAAAAGGGAATAAATTCTTCAAAATTATATTATAATCGTAAATACATATACACCCAACATTGGAGCATATAACTATATAAAGTAAATATTAAGAGATCTGAAGAGAGACACAGACTAGAACACAATAATAGTAGGGGATTTTAGTACCCTACTTTCATCACTGAACAGATCATCTAAACAGAAAATCAATAAAGAAATATTAGACTTGAACTACACTTTAGACCAAATATACCTAACAG... | AAAATAAAGTTCATATAAATGAAAAAACAAAATAGACTTAACATCAAAAAGTGTAAAAAGAGACAAAGATCATCATATAATAAAAAGGGAATAAATTCTTCAAAATTATATTATAATCGTAAATACATATACACCCAACATTGGAGCATATAACTATATAAAGTAAATATTAAGAGATCTGAAGAGAGACACAGACTAGAACACAATAATAGTAGGGGATTTTAGTACCCTACTTTCATCACTGAACAGATCATCTAAACAGAAAATCAATAAAGAAATATTAGACTTGAACTACACTTTAGACCAAATATACCTAACAG... | pathogenic | 90,908 |
Mutation found at chromosome 5 position 13885199, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | TTCCTTTGTAACCATAAAAATTAAAACAATACATAATAGGTATAAAATCTAATAAATATTTGTTGAATGAATGAGTCAATTAAAACTAATGGAGGATCTAGTATTGCTCAATATAACAAAGCAGTTCAGGGGAACCCAAGGCATTTTTTGCTGTTTACAGCTTCTTGGAATACTCTCCACAATGAAACCCACTGTGTGGGATCAGGCTAAATTATAAACACTTCTGTAAAATATTAAAGATGATTCTTCCAAATAACAAGATGCCAACAAATTAGCTAAATGTAGCTAAGTAAGCCAGGAATGAAGAACAAGACTATCGG... | TTCCTTTGTAACCATAAAAATTAAAACAATACATAATAGGTATAAAATCTAATAAATATTTGTTGAATGAATGAGTCAATTAAAACTAATGGAGGATCTAGTATTGCTCAATATAACAAAGCAGTTCAGGGGAACCCAAGGCATTTTTTGCTGTTTACAGCTTCTTGGAATACTCTCCACAATGAAACCCACTGTGTGGGATCAGGCTAAATTATAAACACTTCTGTAAAATATTAAAGATGATTCTTCCAAATAACAAGATGCCAACAAATTAGCTAAATGTAGCTAAGTAAGCCAGGAATGAAGAACAAGACTATCGG... | pathogenic | 90,918 |
Is the genetic change at chromosome 5, position 13886135, within gene DNAH5 (dynein axonemal heavy chain 5) benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATACAACACCTATTTCTGAACTGTGCCGAGGAAAAGATGATGCTATTGAAAATGAGGAAACCACCTGGAAAGTACTAAATTAGCATAAAAATAGTAAAATACATATATATCCTTTGAAGAGTGTGACACTAGTAAGATGTTTCCACTTTGTAAGACTGGCTAACAAACCTAATGATTTAACAATGAAAGAATCGTTTCCATATAACTTCCTTTAAAGTATGTATTTTTTTCTTTCACCAATTAAAATAATTTTATATTTTTTCATCTTATTACAAAAAGATTAAACGTACTACCAATTTTCATGTTATTAACAAAAACTT... | ATACAACACCTATTTCTGAACTGTGCCGAGGAAAAGATGATGCTATTGAAAATGAGGAAACCACCTGGAAAGTACTAAATTAGCATAAAAATAGTAAAATACATATATATCCTTTGAAGAGTGTGACACTAGTAAGATGTTTCCACTTTGTAAGACTGGCTAACAAACCTAATGATTTAACAATGAAAGAATCGTTTCCATATAACTTCCTTTAAAGTATGTATTTTTTTCTTTCACCAATTAAAATAATTTTATATTTTTTCATCTTATTACAAAAAGATTAAACGTACTACCAATTTTCATGTTATTAACAAAAACTT... | benign | 90,923 |
A genetic variant on chromosome 5, position 13886135, affects the gene DNAH5 (dynein axonemal heavy chain 5). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ATACAACACCTATTTCTGAACTGTGCCGAGGAAAAGATGATGCTATTGAAAATGAGGAAACCACCTGGAAAGTACTAAATTAGCATAAAAATAGTAAAATACATATATATCCTTTGAAGAGTGTGACACTAGTAAGATGTTTCCACTTTGTAAGACTGGCTAACAAACCTAATGATTTAACAATGAAAGAATCGTTTCCATATAACTTCCTTTAAAGTATGTATTTTTTTCTTTCACCAATTAAAATAATTTTATATTTTTTCATCTTATTACAAAAAGATTAAACGTACTACCAATTTTCATGTTATTAACAAAAACTT... | ATACAACACCTATTTCTGAACTGTGCCGAGGAAAAGATGATGCTATTGAAAATGAGGAAACCACCTGGAAAGTACTAAATTAGCATAAAAATAGTAAAATACATATATATCCTTTGAAGAGTGTGACACTAGTAAGATGTTTCCACTTTGTAAGACTGGCTAACAAACCTAATGATTTAACAATGAAAGAATCGTTTCCATATAACTTCCTTTAAAGTATGTATTTTTTTCTTTCACCAATTAAAATAATTTTATATTTTTTCATCTTATTACAAAAAGATTAAACGTACTACCAATTTTCATGTTATTAACAAAAACTT... | benign | 90,924 |
Is the variant located on chromosome 5 at position 13886135, gene DNAH5 (dynein axonemal heavy chain 5), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | ATACAACACCTATTTCTGAACTGTGCCGAGGAAAAGATGATGCTATTGAAAATGAGGAAACCACCTGGAAAGTACTAAATTAGCATAAAAATAGTAAAATACATATATATCCTTTGAAGAGTGTGACACTAGTAAGATGTTTCCACTTTGTAAGACTGGCTAACAAACCTAATGATTTAACAATGAAAGAATCGTTTCCATATAACTTCCTTTAAAGTATGTATTTTTTTCTTTCACCAATTAAAATAATTTTATATTTTTTCATCTTATTACAAAAAGATTAAACGTACTACCAATTTTCATGTTATTAACAAAAACTT... | ATACAACACCTATTTCTGAACTGTGCCGAGGAAAAGATGATGCTATTGAAAATGAGGAAACCACCTGGAAAGTACTAAATTAGCATAAAAATAGTAAAATACATATATATCCTTTGAAGAGTGTGACACTAGTAAGATGTTTCCACTTTGTAAGACTGGCTAACAAACCTAATGATTTAACAATGAAAGAATCGTTTCCATATAACTTCCTTTAAAGTATGTATTTTTTTCTTTCACCAATTAAAATAATTTTATATTTTTTCATCTTATTACAAAAAGATTAAACGTACTACCAATTTTCATGTTATTAACAAAAACTT... | benign | 90,925 |
Assess the variant on chromosome 5, position 13886135, impacting DNAH5 (dynein axonemal heavy chain 5): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | ATACAACACCTATTTCTGAACTGTGCCGAGGAAAAGATGATGCTATTGAAAATGAGGAAACCACCTGGAAAGTACTAAATTAGCATAAAAATAGTAAAATACATATATATCCTTTGAAGAGTGTGACACTAGTAAGATGTTTCCACTTTGTAAGACTGGCTAACAAACCTAATGATTTAACAATGAAAGAATCGTTTCCATATAACTTCCTTTAAAGTATGTATTTTTTTCTTTCACCAATTAAAATAATTTTATATTTTTTCATCTTATTACAAAAAGATTAAACGTACTACCAATTTTCATGTTATTAACAAAAACTT... | ATACAACACCTATTTCTGAACTGTGCCGAGGAAAAGATGATGCTATTGAAAATGAGGAAACCACCTGGAAAGTACTAAATTAGCATAAAAATAGTAAAATACATATATATCCTTTGAAGAGTGTGACACTAGTAAGATGTTTCCACTTTGTAAGACTGGCTAACAAACCTAATGATTTAACAATGAAAGAATCGTTTCCATATAACTTCCTTTAAAGTATGTATTTTTTTCTTTCACCAATTAAAATAATTTTATATTTTTTCATCTTATTACAAAAAGATTAAACGTACTACCAATTTTCATGTTATTAACAAAAACTT... | benign | 90,926 |
A genetic alteration at chromosome 5, position 13886135, in gene DNAH5 (dynein axonemal heavy chain 5)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ATACAACACCTATTTCTGAACTGTGCCGAGGAAAAGATGATGCTATTGAAAATGAGGAAACCACCTGGAAAGTACTAAATTAGCATAAAAATAGTAAAATACATATATATCCTTTGAAGAGTGTGACACTAGTAAGATGTTTCCACTTTGTAAGACTGGCTAACAAACCTAATGATTTAACAATGAAAGAATCGTTTCCATATAACTTCCTTTAAAGTATGTATTTTTTTCTTTCACCAATTAAAATAATTTTATATTTTTTCATCTTATTACAAAAAGATTAAACGTACTACCAATTTTCATGTTATTAACAAAAACTT... | ATACAACACCTATTTCTGAACTGTGCCGAGGAAAAGATGATGCTATTGAAAATGAGGAAACCACCTGGAAAGTACTAAATTAGCATAAAAATAGTAAAATACATATATATCCTTTGAAGAGTGTGACACTAGTAAGATGTTTCCACTTTGTAAGACTGGCTAACAAACCTAATGATTTAACAATGAAAGAATCGTTTCCATATAACTTCCTTTAAAGTATGTATTTTTTTCTTTCACCAATTAAAATAATTTTATATTTTTTCATCTTATTACAAAAAGATTAAACGTACTACCAATTTTCATGTTATTAACAAAAACTT... | benign | 90,927 |
Gene mutation in DNAH5 (dynein axonemal heavy chain 5) at chromosome 5, position 13894796—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['DNAH5-related_disorder', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | TTTTTATACATTTCATAAGTGCCTCCTTAGGAAATTTTAGCCAGTTTCCTCTTGTTTTATTTCCTGGGGAGGCGTATTTTGGAAGAAATATTAATTTAGAGCAAGGAAATCGGGTTCTAAACTCATTATTATTTCTTACATCTATGTAACATTAAAAGCCATTTAGCATCTCTGGCTTGATATTCATTCATATTCAAAAACTCCATTATCATTTGTCTTTGAGTCCAGCTCCCAATCTATAATGCATAACAAAGGTGAGGTATGGGCTGAATCATAATTTCTCACTCTACTCCCCTCCAACCCAGTACTTCTCAAATATT... | TTTTTATACATTTCATAAGTGCCTCCTTAGGAAATTTTAGCCAGTTTCCTCTTGTTTTATTTCCTGGGGAGGCGTATTTTGGAAGAAATATTAATTTAGAGCAAGGAAATCGGGTTCTAAACTCATTATTATTTCTTACATCTATGTAACATTAAAAGCCATTTAGCATCTCTGGCTTGATATTCATTCATATTCAAAAACTCCATTATCATTTGTCTTTGAGTCCAGCTCCCAATCTATAATGCATAACAAAGGTGAGGTATGGGCTGAATCATAATTTCTCACTCTACTCCCCTCCAACCCAGTACTTCTCAAATATT... | pathogenic | 90,937 |
Clinical significance of chromosome 5, position 13913850, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | ATATCTGAAATAATTTTTAAAGCCCAGAGTAGAATTTACTAAAATATTCTGTGTTGAATAGTTTAAATCTTCTCAGAAAATAAATAAGGCTTTCACAGAACACAAACAATATAGGAAGAAAATAAATGATGTTATATCTACAGATGAGTTACTACCTTCCAAGCTTCAAACATCTTAAAAATGTCAGACCAGAATCCACCACTTAAAACCTTTCTAAAATTAATTGTTTCCTACTGCCCTGCAAAGCTGCAGCCTGTGACTAGGAAAGTACAAACTAGGAAGTTCATCTCCTTGAAAATACTATTATCAGAAGCTTTGTT... | ATATCTGAAATAATTTTTAAAGCCCAGAGTAGAATTTACTAAAATATTCTGTGTTGAATAGTTTAAATCTTCTCAGAAAATAAATAAGGCTTTCACAGAACACAAACAATATAGGAAGAAAATAAATGATGTTATATCTACAGATGAGTTACTACCTTCCAAGCTTCAAACATCTTAAAAATGTCAGACCAGAATCCACCACTTAAAACCTTTCTAAAATTAATTGTTTCCTACTGCCCTGCAAAGCTGCAGCCTGTGACTAGGAAAGTACAAACTAGGAAGTTCATCTCCTTGAAAATACTATTATCAGAAGCTTTGTT... | pathogenic | 90,973 |
Determine whether the variant at chromosome 5, position 13913923, in gene DNAH5 (dynein axonemal heavy chain 5) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | CAGAAAATAAATAAGGCTTTCACAGAACACAAACAATATAGGAAGAAAATAAATGATGTTATATCTACAGATGAGTTACTACCTTCCAAGCTTCAAACATCTTAAAAATGTCAGACCAGAATCCACCACTTAAAACCTTTCTAAAATTAATTGTTTCCTACTGCCCTGCAAAGCTGCAGCCTGTGACTAGGAAAGTACAAACTAGGAAGTTCATCTCCTTGAAAATACTATTATCAGAAGCTTTGTTTGCTTTCAATAATGAGCTATAATGCTCTGCGATTCTTCTTAACCAGGTACTAAGCCATTCTCAAACTCAGGTG... | CAGAAAATAAATAAGGCTTTCACAGAACACAAACAATATAGGAAGAAAATAAATGATGTTATATCTACAGATGAGTTACTACCTTCCAAGCTTCAAACATCTTAAAAATGTCAGACCAGAATCCACCACTTAAAACCTTTCTAAAATTAATTGTTTCCTACTGCCCTGCAAAGCTGCAGCCTGTGACTAGGAAAGTACAAACTAGGAAGTTCATCTCCTTGAAAATACTATTATCAGAAGCTTTGTTTGCTTTCAATAATGAGCTATAATGCTCTGCGATTCTTCTTAACCAGGTACTAAGCCATTCTCAAACTCAGGTG... | pathogenic | 90,975 |
The chromosome 5, position 13914584 genetic variant in gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | CTGATATCCCTTAAAATCAAAAGAATCAAAAGTATGTGTGTGTATGTATATATACACATATATACATACACATGTAGCTTTTCCATACTTCTTTTAGACATTTTATGTAACACTATATACATATATACACACACATATATAGTGTTATATAAATTGTCTAAAACAAGTATGGAAAAGCTACTACATTTTGATGTAGTAATTTTAAAGATTTGGGAACTTGAGAAAATCCTGCTCTATGACTGGATTTAATGGTCACTTAAGATTATTAAGTTAAATAAAGGAAATGATTAATCGTGACCTTTACATCAACTACTCAAACT... | CTGATATCCCTTAAAATCAAAAGAATCAAAAGTATGTGTGTGTATGTATATATACACATATATACATACACATGTAGCTTTTCCATACTTCTTTTAGACATTTTATGTAACACTATATACATATATACACACACATATATAGTGTTATATAAATTGTCTAAAACAAGTATGGAAAAGCTACTACATTTTGATGTAGTAATTTTAAAGATTTGGGAACTTGAGAAAATCCTGCTCTATGACTGGATTTAATGGTCACTTAAGATTATTAAGTTAAATAAAGGAAATGATTAATCGTGACCTTTACATCAACTACTCAAACT... | pathogenic | 90,981 |
A genetic alteration at chromosome 5, position 13919191, in gene DNAH5 (dynein axonemal heavy chain 5)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | GGGATCACTGCTGTACAAAGGGTCACAACATTTTTCAAGTGTATACAAGTATTTCACATTGTCCTTTGCTTCATTAGTTGCATCAGTGATTCGAATATCCATCTCCCGCCAAGTCTAAGCACAATAGGGAAAAGCAATTTTAATGTAATTATTAATAGAGGAACTTCCAACACAACCACTGCTAAGAGTCACCACAAGTCCATTAGGCGAGACCTTCTGTCCATCTCACAGAAAACTGAATCCAGAGGGGCGAGAGATATTGCTATGCTGGAAAGCAATTTAAAATTTTTGACTCAATGTTTTAAAGCATATCTTCCAGG... | GGGATCACTGCTGTACAAAGGGTCACAACATTTTTCAAGTGTATACAAGTATTTCACATTGTCCTTTGCTTCATTAGTTGCATCAGTGATTCGAATATCCATCTCCCGCCAAGTCTAAGCACAATAGGGAAAAGCAATTTTAATGTAATTATTAATAGAGGAACTTCCAACACAACCACTGCTAAGAGTCACCACAAGTCCATTAGGCGAGACCTTCTGTCCATCTCACAGAAAACTGAATCCAGAGGGGCGAGAGATATTGCTATGCTGGAAAGCAATTTAAAATTTTTGACTCAATGTTTTAAAGCATATCTTCCAGG... | pathogenic | 90,995 |
Is the genetic mutation found on chromosome 5 at position 13919273, within the gene DNAH5 (dynein axonemal heavy chain 5), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | TCAGTGATTCGAATATCCATCTCCCGCCAAGTCTAAGCACAATAGGGAAAAGCAATTTTAATGTAATTATTAATAGAGGAACTTCCAACACAACCACTGCTAAGAGTCACCACAAGTCCATTAGGCGAGACCTTCTGTCCATCTCACAGAAAACTGAATCCAGAGGGGCGAGAGATATTGCTATGCTGGAAAGCAATTTAAAATTTTTGACTCAATGTTTTAAAGCATATCTTCCAGGGCTTCTCATATAAAATCTATGCTATGACTATCACAGAGCACCAGGAGGGCAGCACCGCCCTTTAAACTCACACGTTCTCCCC... | TCAGTGATTCGAATATCCATCTCCCGCCAAGTCTAAGCACAATAGGGAAAAGCAATTTTAATGTAATTATTAATAGAGGAACTTCCAACACAACCACTGCTAAGAGTCACCACAAGTCCATTAGGCGAGACCTTCTGTCCATCTCACAGAAAACTGAATCCAGAGGGGCGAGAGATATTGCTATGCTGGAAAGCAATTTAAAATTTTTGACTCAATGTTTTAAAGCATATCTTCCAGGGCTTCTCATATAAAATCTATGCTATGACTATCACAGAGCACCAGGAGGGCAGCACCGCCCTTTAAACTCACACGTTCTCCCC... | pathogenic | 90,999 |
Chromosome 5, position 13919318, gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | GGAAAAGCAATTTTAATGTAATTATTAATAGAGGAACTTCCAACACAACCACTGCTAAGAGTCACCACAAGTCCATTAGGCGAGACCTTCTGTCCATCTCACAGAAAACTGAATCCAGAGGGGCGAGAGATATTGCTATGCTGGAAAGCAATTTAAAATTTTTGACTCAATGTTTTAAAGCATATCTTCCAGGGCTTCTCATATAAAATCTATGCTATGACTATCACAGAGCACCAGGAGGGCAGCACCGCCCTTTAAACTCACACGTTCTCCCCTGCACTGGTTAGCAGACCCATTTGATACCACACTTCCATATTTTC... | GGAAAAGCAATTTTAATGTAATTATTAATAGAGGAACTTCCAACACAACCACTGCTAAGAGTCACCACAAGTCCATTAGGCGAGACCTTCTGTCCATCTCACAGAAAACTGAATCCAGAGGGGCGAGAGATATTGCTATGCTGGAAAGCAATTTAAAATTTTTGACTCAATGTTTTAAAGCATATCTTCCAGGGCTTCTCATATAAAATCTATGCTATGACTATCACAGAGCACCAGGAGGGCAGCACCGCCCTTTAAACTCACACGTTCTCCCCTGCACTGGTTAGCAGACCCATTTGATACCACACTTCCATATTTTC... | pathogenic | 91,002 |
A mutation at chromosome position 13920483 on chromosome 5 in gene DNAH5 (dynein axonemal heavy chain 5): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Primary_ciliary_dyskinesia'] | CCCATAGAGTGTGAGATTGAAATATTGGCTGTTTTTGTTTTTTGTTTTTTATTTTGGCAGAGTCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCACGACCTCGGCTCACTGCAAACCTCCACCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGACACTATGCCCAGCTAATTTTTGTGCTTTTTAAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAGCC... | CCCATAGAGTGTGAGATTGAAATATTGGCTGTTTTTGTTTTTTGTTTTTTATTTTGGCAGAGTCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCACGACCTCGGCTCACTGCAAACCTCCACCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGACACTATGCCCAGCTAATTTTTGTGCTTTTTAAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAGCC... | pathogenic | 91,006 |
Considering the genetic mutation at chromosome 5, position 13923341, impacting DNAH5 (dynein axonemal heavy chain 5): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | TCAGCATTCCTGGGAGAGGAGGGCAGAGTGTCACACTGTCATCATTACCATAGGATCCATTTCCCTACCTGCCCCTACATGCCTGATCTGGGCTCTGTCATCTCTCTTATTACCTTATCTTCTCTCTCTCTCCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTTGCTCTATCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAAGCGTACATCCATCAACCTCTGCCCCAAGTAATCACAAACACAGACTTATTATAAACAGCACAAATCATACAGAAACTAAATGTCACCTTTGC... | TCAGCATTCCTGGGAGAGGAGGGCAGAGTGTCACACTGTCATCATTACCATAGGATCCATTTCCCTACCTGCCCCTACATGCCTGATCTGGGCTCTGTCATCTCTCTTATTACCTTATCTTCTCTCTCTCTCCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTTGCTCTATCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAAGCGTACATCCATCAACCTCTGCCCCAAGTAATCACAAACACAGACTTATTATAAACAGCACAAATCATACAGAAACTAAATGTCACCTTTGC... | pathogenic | 91,019 |
A genetic alteration at chromosome 5, position 13944376, in gene DNAH5 (dynein axonemal heavy chain 5)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_3'] | AGTTAAATATATATGGACTTGTAGTTAAATACATACATACTTATAGTTAGGTAGCTCTGGAATGTTTCCCATTGGTCATTTTCGATCATGAAGTTATAATATAATAAGCTATCTTATCAGTTGACAAACTTTCCTTGCTTGGCCAAACTTTAGTCAGGTTCCTGAATCTTCTCCTAGGCCCATCTGTACACTTCCTTGTAAAATCTAGTTTTAGCAAAGAACTCTGCTAAGTCAGTTAACAAGAACCCCTGTAGAGGGTACTCAATATCTGATCACCGTCAGTCGCTGATTGGGTTCCTCATCCTCCACCATCCCCCACG... | AGTTAAATATATATGGACTTGTAGTTAAATACATACATACTTATAGTTAGGTAGCTCTGGAATGTTTCCCATTGGTCATTTTCGATCATGAAGTTATAATATAATAAGCTATCTTATCAGTTGACAAACTTTCCTTGCTTGGCCAAACTTTAGTCAGGTTCCTGAATCTTCTCCTAGGCCCATCTGTACACTTCCTTGTAAAATCTAGTTTTAGCAAAGAACTCTGCTAAGTCAGTTAACAAGAACCCCTGTAGAGGGTACTCAATATCTGATCACCGTCAGTCGCTGATTGGGTTCCTCATCCTCCACCATCCCCCACG... | pathogenic | 91,038 |
Variant in TRIO (trio Rho guanine nucleotide exchange factor), chromosome 5, position 14290823—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Micrognathia-recurrent_infections-behavioral_abnormalities-mild_intellectual_disability_syndrome'] | TGTTTCTTTTGCCAACCAGCACGCCGGACCAGCCCTTCTTGTTTTCTCTTTTGGTTCTAGGTCACAACTCTTTCTCCTTCACCTTTGTCTTTGCATTTAATCTTCCCCCTCCATGTTTTCCTTGAGGCATATTAATATTAATCTGCTTCACATCATGATAAGGTGAGGTTAAGATTTCTTGCCGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGATTCTAAGGGAGGAGGACTGCTTGAGGCTGGGAGTTCGAGCCCAGCCTGAGAAACTTAGCAAGAGCCTGTCTCTATATTTTGTTTTAAAAAT... | TGTTTCTTTTGCCAACCAGCACGCCGGACCAGCCCTTCTTGTTTTCTCTTTTGGTTCTAGGTCACAACTCTTTCTCCTTCACCTTTGTCTTTGCATTTAATCTTCCCCCTCCATGTTTTCCTTGAGGCATATTAATATTAATCTGCTTCACATCATGATAAGGTGAGGTTAAGATTTCTTGCCGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGATTCTAAGGGAGGAGGACTGCTTGAGGCTGGGAGTTCGAGCCCAGCCTGAGAAACTTAGCAAGAGCCTGTCTCTATATTTTGTTTTAAAAAT... | pathogenic | 91,056 |
Classify the chromosome 5 variant at position 14387517 affecting gene TRIO (trio Rho guanine nucleotide exchange factor) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Micrognathia-recurrent_infections-behavioral_abnormalities-mild_intellectual_disability_syndrome'] | AGGATGTGTTCAGTAGAAAATGCTAATACAGAGCAGTGTGTGTTGTATGCAAGTACACGTGTAAGAAATATGAGAGAGAAAAATACTTATATACATTTGCGCACTTGCTTGTACATGCACATAAAATGTCTCTGAAGTGATAGCAAGAAGCTGGTGATTGGAACTGGTGACAGTGGAAGGTGGGGTGAGAAGAGTTTTTACTTTGTATCTTTTTTATCTTTGGAATTTTGAATCCTGTAAATGTATTTTAAAAATACCAATGCAAGTAAAAATATACTGAGATATTTTTAAAGTTCATAGGTTAGCAGATTTATGGTACT... | AGGATGTGTTCAGTAGAAAATGCTAATACAGAGCAGTGTGTGTTGTATGCAAGTACACGTGTAAGAAATATGAGAGAGAAAAATACTTATATACATTTGCGCACTTGCTTGTACATGCACATAAAATGTCTCTGAAGTGATAGCAAGAAGCTGGTGATTGGAACTGGTGACAGTGGAAGGTGGGGTGAGAAGAGTTTTTACTTTGTATCTTTTTTATCTTTGGAATTTTGAATCCTGTAAATGTATTTTAAAAATACCAATGCAAGTAAAAATATACTGAGATATTTTTAAAGTTCATAGGTTAGCAGATTTATGGTACT... | pathogenic | 91,115 |
Evaluate the clinical significance of the mutation at chromosome 5, position 14476894 in gene TRIO (trio Rho guanine nucleotide exchange factor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Intellectual_disability', 'Micrognathia-recurrent_infections-behavioral_abnormalities-mild_intellectual_disability_syndrome'] | TGGTTTTCGTAGACAAACACGGGCTTGCTGTGTTGCCTAAGCTGGTCTTGAACTCCTGGGCTCAAGCAGTCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCCAATTCAATTTTAATGGAAAAAGTAGACACGATTGCCCATGAAATTCAACTCTGATCCCACTACATTCCCCACACCTATCCTAATCAGGAGGCAATCCATCTGGGGGCTGGTGCTACGTAGCTCACCTTGGCTACCAGAGCTTGTCAACATACCTGTCCCTTTAGATCACTTTGCTTAAACTTTAAAAATC... | TGGTTTTCGTAGACAAACACGGGCTTGCTGTGTTGCCTAAGCTGGTCTTGAACTCCTGGGCTCAAGCAGTCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCCAATTCAATTTTAATGGAAAAAGTAGACACGATTGCCCATGAAATTCAACTCTGATCCCACTACATTCCCCACACCTATCCTAATCAGGAGGCAATCCATCTGGGGGCTGGTGCTACGTAGCTCACCTTGGCTACCAGAGCTTGTCAACATACCTGTCCCTTTAGATCACTTTGCTTAAACTTTAAAAATC... | pathogenic | 91,171 |
The mutation in gene TRIO (trio Rho guanine nucleotide exchange factor) at chromosome 5, position 14487459—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TGTGGCCAGTACTATTATTATTCCTGCTTTACAGATGAGAAAGCTGGGGCACTGAGCGGCTGAGTAATTTGCTTCGAGTCCCACAAGTTGTTGAGGGCAGAGTCAGGACACAGAGTGGCCATCTGGCTCTTGGTCTGTGCCCCTCGCAGCTACACTGTCCCACACATAACATGTACGAGGGCCCAGTCCTAGGAAGAGGAGTTTGCGAGAACACGAGATGGCATTGGCCAGAGACATTCACGAGGGCCTTGCACACCCACACCTCCTTTCCCCATTAAAAAAATAAGAGATGGGGCCAAGCATGGTGGCTCAAGCCTATA... | TGTGGCCAGTACTATTATTATTCCTGCTTTACAGATGAGAAAGCTGGGGCACTGAGCGGCTGAGTAATTTGCTTCGAGTCCCACAAGTTGTTGAGGGCAGAGTCAGGACACAGAGTGGCCATCTGGCTCTTGGTCTGTGCCCCTCGCAGCTACACTGTCCCACACATAACATGTACGAGGGCCCAGTCCTAGGAAGAGGAGTTTGCGAGAACACGAGATGGCATTGGCCAGAGACATTCACGAGGGCCTTGCACACCCACACCTCCTTTCCCCATTAAAAAAATAAGAGATGGGGCCAAGCATGGTGGCTCAAGCCTATA... | benign | 91,185 |
Is the genetic mutation found on chromosome 5 at position 14487525, within the gene TRIO (trio Rho guanine nucleotide exchange factor), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ATTTGCTTCGAGTCCCACAAGTTGTTGAGGGCAGAGTCAGGACACAGAGTGGCCATCTGGCTCTTGGTCTGTGCCCCTCGCAGCTACACTGTCCCACACATAACATGTACGAGGGCCCAGTCCTAGGAAGAGGAGTTTGCGAGAACACGAGATGGCATTGGCCAGAGACATTCACGAGGGCCTTGCACACCCACACCTCCTTTCCCCATTAAAAAAATAAGAGATGGGGCCAAGCATGGTGGCTCAAGCCTATAATCCCAGCACTTTGGGAGGCCAAGTTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGA... | ATTTGCTTCGAGTCCCACAAGTTGTTGAGGGCAGAGTCAGGACACAGAGTGGCCATCTGGCTCTTGGTCTGTGCCCCTCGCAGCTACACTGTCCCACACATAACATGTACGAGGGCCCAGTCCTAGGAAGAGGAGTTTGCGAGAACACGAGATGGCATTGGCCAGAGACATTCACGAGGGCCTTGCACACCCACACCTCCTTTCCCCATTAAAAAAATAAGAGATGGGGCCAAGCATGGTGGCTCAAGCCTATAATCCCAGCACTTTGGGAGGCCAAGTTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGA... | benign | 91,188 |
Is the genetic mutation found on chromosome 5 at position 14487671, within the gene TRIO (trio Rho guanine nucleotide exchange factor), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_developmental_disorder,_autosomal_dominant_63,_with_macrocephaly'] | ACGAGATGGCATTGGCCAGAGACATTCACGAGGGCCTTGCACACCCACACCTCCTTTCCCCATTAAAAAAATAAGAGATGGGGCCAAGCATGGTGGCTCAAGCCTATAATCCCAGCACTTTGGGAGGCCAAGTTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGATCGTGGTGAGCTGAGATC... | ACGAGATGGCATTGGCCAGAGACATTCACGAGGGCCTTGCACACCCACACCTCCTTTCCCCATTAAAAAAATAAGAGATGGGGCCAAGCATGGTGGCTCAAGCCTATAATCCCAGCACTTTGGGAGGCCAAGTTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGATCGTGGTGAGCTGAGATC... | pathogenic | 91,190 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 14488084, gene TRIO (trio Rho guanine nucleotide exchange factor): what disease(s) if pathogenic? | benign | GAGGGATTGCAGAGATGCTGCAGAACACAGCGGGCGTGGCCACACTACCCTTCCATTGCCTCTTAATGTATTTGATCTCTTTGCAAATGTTGGCTTCAACACTGGCTTTTAATTTGGTGATCAGCAAAGAACTTTGAGAATTCAGTCCGAAGCTATGTGCCCATGTCATCTGTGTCTTCTGGGTTCTTTGCTTCATGTTCGTATTCACGGTCTGCATCTATGCCTGCTCAAGCTCAATAGGATGTTGTAATGTTCTCTGTCACAAGAAAGCCACCTCTACACCTTGCGTGATGTTCAAGAGCCAGGAACATAGGCACTCA... | GAGGGATTGCAGAGATGCTGCAGAACACAGCGGGCGTGGCCACACTACCCTTCCATTGCCTCTTAATGTATTTGATCTCTTTGCAAATGTTGGCTTCAACACTGGCTTTTAATTTGGTGATCAGCAAAGAACTTTGAGAATTCAGTCCGAAGCTATGTGCCCATGTCATCTGTGTCTTCTGGGTTCTTTGCTTCATGTTCGTATTCACGGTCTGCATCTATGCCTGCTCAAGCTCAATAGGATGTTGTAATGTTCTCTGTCACAAGAAAGCCACCTCTACACCTTGCGTGATGTTCAAGAGCCAGGAACATAGGCACTCA... | benign | 91,201 |
Evaluate this variant at chromosome 5, position 14716715, gene ANKH (ANKH inorganic pyrophosphate transport regulator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Chondrocalcinosis_2', 'Craniometaphyseal_dysplasia,_autosomal_dominant'] | AGACCCACTGAGGTTTTTGACCAAAGGAGAGAGTCAGGATCCCAGGCATATGCTAAACTGGTTGGCCCAAATCCAACAGATTGCAAAGAGTGGCAGGGCCTGGCAGCTGTCTGGAAGCCCTTCATCTTACAGACAAGGAAGTGGTGTCAAATGGACAGTAAAGGTGAATCACATACTCAGCTATAGCCTGCTCCCAGCTGGGGCACTCCAGGCCCCTCCTCTGGTCACTACTGTAGAAATTAACTGCATGTGTCTCAATCTGCGAGTGCAGCTGCTTCTAGATGGTGGCACCTTCCAGAGCTTGGTTCGCCCTGTGTCTA... | AGACCCACTGAGGTTTTTGACCAAAGGAGAGAGTCAGGATCCCAGGCATATGCTAAACTGGTTGGCCCAAATCCAACAGATTGCAAAGAGTGGCAGGGCCTGGCAGCTGTCTGGAAGCCCTTCATCTTACAGACAAGGAAGTGGTGTCAAATGGACAGTAAAGGTGAATCACATACTCAGCTATAGCCTGCTCCCAGCTGGGGCACTCCAGGCCCCTCCTCTGGTCACTACTGTAGAAATTAACTGCATGTGTCTCAATCTGCGAGTGCAGCTGCTTCTAGATGGTGGCACCTTCCAGAGCTTGGTTCGCCCTGTGTCTA... | pathogenic | 91,285 |
Is the genetic mutation found on chromosome 5 at position 14716720, within the gene ANKH (ANKH inorganic pyrophosphate transport regulator), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Craniometaphyseal_dysplasia,_autosomal_dominant'] | CACTGAGGTTTTTGACCAAAGGAGAGAGTCAGGATCCCAGGCATATGCTAAACTGGTTGGCCCAAATCCAACAGATTGCAAAGAGTGGCAGGGCCTGGCAGCTGTCTGGAAGCCCTTCATCTTACAGACAAGGAAGTGGTGTCAAATGGACAGTAAAGGTGAATCACATACTCAGCTATAGCCTGCTCCCAGCTGGGGCACTCCAGGCCCCTCCTCTGGTCACTACTGTAGAAATTAACTGCATGTGTCTCAATCTGCGAGTGCAGCTGCTTCTAGATGGTGGCACCTTCCAGAGCTTGGTTCGCCCTGTGTCTACCCAA... | CACTGAGGTTTTTGACCAAAGGAGAGAGTCAGGATCCCAGGCATATGCTAAACTGGTTGGCCCAAATCCAACAGATTGCAAAGAGTGGCAGGGCCTGGCAGCTGTCTGGAAGCCCTTCATCTTACAGACAAGGAAGTGGTGTCAAATGGACAGTAAAGGTGAATCACATACTCAGCTATAGCCTGCTCCCAGCTGGGGCACTCCAGGCCCCTCCTCTGGTCACTACTGTAGAAATTAACTGCATGTGTCTCAATCTGCGAGTGCAGCTGCTTCTAGATGGTGGCACCTTCCAGAGCTTGGTTCGCCCTGTGTCTACCCAA... | pathogenic | 91,286 |
Is chromosome 5, position 14769203, gene ANKH (ANKH inorganic pyrophosphate transport regulator) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TGGGAAACAAAATGGGCAGGATCTGGATATAGAAAAGCTTACAGGATTACTAAAAACAGAGGCAGAAAGGTGAACAAAGATGCCCGACGTAGCAGATGGCAAAGGCAAGAGAGCAGCTAAAGACTTAGGCAGAAAATGGTAAGGAGGCCAACACTCTAGAAAAGGGTACATCATTAAGATCTGATTTTCAGATGTTCAAAAGAAATTCATATGTGCTTTCGTAGCAACTGTGGAAAACATTTGTTTGGTGGATGGAAAAATGCTGTGATTGCAAAAGTATAAAAACTAATAATGATTATTAAATATATATGAGATACAGA... | TGGGAAACAAAATGGGCAGGATCTGGATATAGAAAAGCTTACAGGATTACTAAAAACAGAGGCAGAAAGGTGAACAAAGATGCCCGACGTAGCAGATGGCAAAGGCAAGAGAGCAGCTAAAGACTTAGGCAGAAAATGGTAAGGAGGCCAACACTCTAGAAAAGGGTACATCATTAAGATCTGATTTTCAGATGTTCAAAAGAAATTCATATGTGCTTTCGTAGCAACTGTGGAAAACATTTGTTTGGTGGATGGAAAAATGCTGTGATTGCAAAAGTATAAAAACTAATAATGATTATTAAATATATATGAGATACAGA... | benign | 91,322 |
Is the genetic mutation found on chromosome 5 at position 14871511, within the gene ANKH, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CCTCAAATGACACTTGTTGATAACATTTTGCTTCTCTGCAAAAACACAACTCCATTAAGTACTTTGCTTACATCAGCCATGATAATCAGGTTAGCAATGTTTTAAGGATGAGTTAGAATTATTAGACCTGCGAGGATAAACCATCTGGATAGTTGTCTCTTATGTTTAACCTCCCTTTTGTGACTTCAGGAGATTCTTTTTCTTATACTAAAATCAAACCTAGTTATGTCAGCCTTTCATTAAATCAAGGCAAAAGGGAGGCAATATTGTGGTATGCGTCAGGTGGTTTAATGATGACACAGACTACTCTTATTTCCACT... | CCTCAAATGACACTTGTTGATAACATTTTGCTTCTCTGCAAAAACACAACTCCATTAAGTACTTTGCTTACATCAGCCATGATAATCAGGTTAGCAATGTTTTAAGGATGAGTTAGAATTATTAGACCTGCGAGGATAAACCATCTGGATAGTTGTCTCTTATGTTTAACCTCCCTTTTGTGACTTCAGGAGATTCTTTTTCTTATACTAAAATCAAACCTAGTTATGTCAGCCTTTCATTAAATCAAGGCAAAAGGGAGGCAATATTGTGGTATGCGTCAGGTGGTTTAATGATGACACAGACTACTCTTATTTCCACT... | benign | 91,326 |
Regarding the variant at chromosome 5 and position 14871717, affecting gene ANKH (ANKH inorganic pyrophosphate transport regulator): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ACTAAAATCAAACCTAGTTATGTCAGCCTTTCATTAAATCAAGGCAAAAGGGAGGCAATATTGTGGTATGCGTCAGGTGGTTTAATGATGACACAGACTACTCTTATTTCCACTAGTTATCTCGATATGATTCTTACATGCACACAAACACACACCAGTTCAGATGAGCAGCCTGGGCTTTCTGACAACCTTTGGGGCAGCTCCAAGAAGGTAAGCCTTAAAATAGGAAAGGCTCGAGTGAATATACAGCATTTGACTCATCTAAAATGGGCAATGTAGTAAATTCGTGTCTAAAAGCTTTTCTACGGATTGTAGGAAGT... | ACTAAAATCAAACCTAGTTATGTCAGCCTTTCATTAAATCAAGGCAAAAGGGAGGCAATATTGTGGTATGCGTCAGGTGGTTTAATGATGACACAGACTACTCTTATTTCCACTAGTTATCTCGATATGATTCTTACATGCACACAAACACACACCAGTTCAGATGAGCAGCCTGGGCTTTCTGACAACCTTTGGGGCAGCTCCAAGAAGGTAAGCCTTAAAATAGGAAAGGCTCGAGTGAATATACAGCATTTGACTCATCTAAAATGGGCAATGTAGTAAATTCGTGTCTAAAAGCTTTTCTACGGATTGTAGGAAGT... | benign | 91,327 |
Is the variant located on chromosome 5 at position 16474669, gene RETREG1 (reticulophagy regulator 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | ATTAATAGTTGTGAGAAAGTCCCATTATTGTATTGTGTAAATTTGTAGTCATACAGTCATATACAAATAATATTAAAATTCATACATAGTTATAATGCTGCTGTCCCTAGAGAGCTGGCATGTCTCCTCAATAGTGGTAATAGCACATTTTTCTACCCTACCAACTTCCTCCCATCCTCACACCCCTTTTAATTTGTAGTTATTAACATTTTATTCTAGATTTATTGTTCATACCACCACAGATTATCAGCCCTTGAGTTCGTCTTCCTGTAAGGTCATCTAGTGACTTATATTCTTTAATTACTTGGATTATTTAACTT... | ATTAATAGTTGTGAGAAAGTCCCATTATTGTATTGTGTAAATTTGTAGTCATACAGTCATATACAAATAATATTAAAATTCATACATAGTTATAATGCTGCTGTCCCTAGAGAGCTGGCATGTCTCCTCAATAGTGGTAATAGCACATTTTTCTACCCTACCAACTTCCTCCCATCCTCACACCCCTTTTAATTTGTAGTTATTAACATTTTATTCTAGATTTATTGTTCATACCACCACAGATTATCAGCCCTTGAGTTCGTCTTCCTGTAAGGTCATCTAGTGACTTATATTCTTTAATTACTTGGATTATTTAACTT... | benign | 91,331 |
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