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 |
|---|---|---|---|---|---|
Mutation found at chromosome X position 32343175, gene DMD (dystrophin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Becker_muscular_dystrophy', 'Cardiomyopathy', 'Duchenne_and_Becker_muscular_dystrophy', 'Duchenne_muscular_dystrophy', 'Dystrophin_deficiency'] | TCTCATACATGGGCTGAACCCTATGCAGTTATTATTTACATAGGGCAAAATGGTTGAGTATCTGTTTGATTCATATAATTCAACCTAACTTAACTATAAAGACTTAGTTTCCAGATTTTGACATCCTGGTTTTGTGAGGAGTACTTTCTTCTATAATTACAGATGATGATCATTCCTCTTCATCTTACAAGTGTTAATAATAGGAACAAAAATGTACCTGTCAGAAAACCTCTATGGTTTATACCTACTACAAATAAAGAAGTGAGACCAAGCTAACAATTCTGAATCGCCTTTTTAAAGAGAGAACCATACACTTTCCA... | TCTCATACATGGGCTGAACCCTATGCAGTTATTATTTACATAGGGCAAAATGGTTGAGTATCTGTTTGATTCATATAATTCAACCTAACTTAACTATAAAGACTTAGTTTCCAGATTTTGACATCCTGGTTTTGTGAGGAGTACTTTCTTCTATAATTACAGATGATGATCATTCCTCTTCATCTTACAAGTGTTAATAATAGGAACAAAAATGTACCTGTCAGAAAACCTCTATGGTTTATACCTACTACAAATAAAGAAGTGAGACCAAGCTAACAATTCTGAATCGCCTTTTTAAAGAGAGAACCATACACTTTCCA... | pathogenic | 331,854 |
Evaluate this variant at chromosome X, position 32343192, gene DMD (dystrophin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic | ACCCTATGCAGTTATTATTTACATAGGGCAAAATGGTTGAGTATCTGTTTGATTCATATAATTCAACCTAACTTAACTATAAAGACTTAGTTTCCAGATTTTGACATCCTGGTTTTGTGAGGAGTACTTTCTTCTATAATTACAGATGATGATCATTCCTCTTCATCTTACAAGTGTTAATAATAGGAACAAAAATGTACCTGTCAGAAAACCTCTATGGTTTATACCTACTACAAATAAAGAAGTGAGACCAAGCTAACAATTCTGAATCGCCTTTTTAAAGAGAGAACCATACACTTTCCATTCAGTTGTTTGAAAGA... | ACCCTATGCAGTTATTATTTACATAGGGCAAAATGGTTGAGTATCTGTTTGATTCATATAATTCAACCTAACTTAACTATAAAGACTTAGTTTCCAGATTTTGACATCCTGGTTTTGTGAGGAGTACTTTCTTCTATAATTACAGATGATGATCATTCCTCTTCATCTTACAAGTGTTAATAATAGGAACAAAAATGTACCTGTCAGAAAACCTCTATGGTTTATACCTACTACAAATAAAGAAGTGAGACCAAGCTAACAATTCTGAATCGCCTTTTTAAAGAGAGAACCATACACTTTCCATTCAGTTGTTTGAAAGA... | pathogenic | 331,855 |
Assess the variant on chromosome X, position 32343267, impacting DMD (dystrophin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | ACTATAAAGACTTAGTTTCCAGATTTTGACATCCTGGTTTTGTGAGGAGTACTTTCTTCTATAATTACAGATGATGATCATTCCTCTTCATCTTACAAGTGTTAATAATAGGAACAAAAATGTACCTGTCAGAAAACCTCTATGGTTTATACCTACTACAAATAAAGAAGTGAGACCAAGCTAACAATTCTGAATCGCCTTTTTAAAGAGAGAACCATACACTTTCCATTCAGTTGTTTGAAAGAAGAGCAGTCACTCCTTTTTGTTTTGGCTGGTAACATTTCAGTAATAACATTATCTGATATTGTTCAATCTGCAAT... | ACTATAAAGACTTAGTTTCCAGATTTTGACATCCTGGTTTTGTGAGGAGTACTTTCTTCTATAATTACAGATGATGATCATTCCTCTTCATCTTACAAGTGTTAATAATAGGAACAAAAATGTACCTGTCAGAAAACCTCTATGGTTTATACCTACTACAAATAAAGAAGTGAGACCAAGCTAACAATTCTGAATCGCCTTTTTAAAGAGAGAACCATACACTTTCCATTCAGTTGTTTGAAAGAAGAGCAGTCACTCCTTTTTGTTTTGGCTGGTAACATTTCAGTAATAACATTATCTGATATTGTTCAATCTGCAAT... | pathogenic | 331,860 |
A genetic variant at chromosome X, position 32343277, affecting gene DMD (dystrophin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | CTTAGTTTCCAGATTTTGACATCCTGGTTTTGTGAGGAGTACTTTCTTCTATAATTACAGATGATGATCATTCCTCTTCATCTTACAAGTGTTAATAATAGGAACAAAAATGTACCTGTCAGAAAACCTCTATGGTTTATACCTACTACAAATAAAGAAGTGAGACCAAGCTAACAATTCTGAATCGCCTTTTTAAAGAGAGAACCATACACTTTCCATTCAGTTGTTTGAAAGAAGAGCAGTCACTCCTTTTTGTTTTGGCTGGTAACATTTCAGTAATAACATTATCTGATATTGTTCAATCTGCAATCAATTAGCAA... | CTTAGTTTCCAGATTTTGACATCCTGGTTTTGTGAGGAGTACTTTCTTCTATAATTACAGATGATGATCATTCCTCTTCATCTTACAAGTGTTAATAATAGGAACAAAAATGTACCTGTCAGAAAACCTCTATGGTTTATACCTACTACAAATAAAGAAGTGAGACCAAGCTAACAATTCTGAATCGCCTTTTTAAAGAGAGAACCATACACTTTCCATTCAGTTGTTTGAAAGAAGAGCAGTCACTCCTTTTTGTTTTGGCTGGTAACATTTCAGTAATAACATTATCTGATATTGTTCAATCTGCAATCAATTAGCAA... | pathogenic | 331,861 |
Gene DMD (dystrophin) variant at chromosome position 32345960 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Duchenne_muscular_dystrophy'] | TGAGATAAATGCTTCTCCTTCCAAGGCTTGCATAGCCACATTTATCTTACTATACCAAATCATGCTCTAAATGCAAAACAATTAACTATTTGAAAAAAGAAAACAGCAAGTGCATGCTTTCAAATCAATGTGATAAGACTAATTTAATAAATCAACAATGGGAGGAAATCAGTCATCATGCTCTTTACAAGCACACTCAATATCTTCTGTGATTAATAGAATTACTCAAAATGCCATTTTATAATTCATGGGAACATAAGCTCTGCATGCAGCTTTCATTTCTACAGAAAGTAGCAATTAGGGTTTTATTCACAGGTTTA... | TGAGATAAATGCTTCTCCTTCCAAGGCTTGCATAGCCACATTTATCTTACTATACCAAATCATGCTCTAAATGCAAAACAATTAACTATTTGAAAAAAGAAAACAGCAAGTGCATGCTTTCAAATCAATGTGATAAGACTAATTTAATAAATCAACAATGGGAGGAAATCAGTCATCATGCTCTTTACAAGCACACTCAATATCTTCTGTGATTAATAGAATTACTCAAAATGCCATTTTATAATTCATGGGAACATAAGCTCTGCATGCAGCTTTCATTTCTACAGAAAGTAGCAATTAGGGTTTTATTCACAGGTTTA... | pathogenic | 331,865 |
A genetic variant on chromosome X, position 32345976, affects the gene DMD (dystrophin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Duchenne_muscular_dystrophy'] | CCTTCCAAGGCTTGCATAGCCACATTTATCTTACTATACCAAATCATGCTCTAAATGCAAAACAATTAACTATTTGAAAAAAGAAAACAGCAAGTGCATGCTTTCAAATCAATGTGATAAGACTAATTTAATAAATCAACAATGGGAGGAAATCAGTCATCATGCTCTTTACAAGCACACTCAATATCTTCTGTGATTAATAGAATTACTCAAAATGCCATTTTATAATTCATGGGAACATAAGCTCTGCATGCAGCTTTCATTTCTACAGAAAGTAGCAATTAGGGTTTTATTCACAGGTTTAATTCGAGCGAAAAAAT... | CCTTCCAAGGCTTGCATAGCCACATTTATCTTACTATACCAAATCATGCTCTAAATGCAAAACAATTAACTATTTGAAAAAAGAAAACAGCAAGTGCATGCTTTCAAATCAATGTGATAAGACTAATTTAATAAATCAACAATGGGAGGAAATCAGTCATCATGCTCTTTACAAGCACACTCAATATCTTCTGTGATTAATAGAATTACTCAAAATGCCATTTTATAATTCATGGGAACATAAGCTCTGCATGCAGCTTTCATTTCTACAGAAAGTAGCAATTAGGGTTTTATTCACAGGTTTAATTCGAGCGAAAAAAT... | pathogenic | 331,869 |
Gene DMD (dystrophin) variant at chromosome position 32346000 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | TTTATCTTACTATACCAAATCATGCTCTAAATGCAAAACAATTAACTATTTGAAAAAAGAAAACAGCAAGTGCATGCTTTCAAATCAATGTGATAAGACTAATTTAATAAATCAACAATGGGAGGAAATCAGTCATCATGCTCTTTACAAGCACACTCAATATCTTCTGTGATTAATAGAATTACTCAAAATGCCATTTTATAATTCATGGGAACATAAGCTCTGCATGCAGCTTTCATTTCTACAGAAAGTAGCAATTAGGGTTTTATTCACAGGTTTAATTCGAGCGAAAAAATAATAAATATCAGGGAATTTCTAAA... | TTTATCTTACTATACCAAATCATGCTCTAAATGCAAAACAATTAACTATTTGAAAAAAGAAAACAGCAAGTGCATGCTTTCAAATCAATGTGATAAGACTAATTTAATAAATCAACAATGGGAGGAAATCAGTCATCATGCTCTTTACAAGCACACTCAATATCTTCTGTGATTAATAGAATTACTCAAAATGCCATTTTATAATTCATGGGAACATAAGCTCTGCATGCAGCTTTCATTTCTACAGAAAGTAGCAATTAGGGTTTTATTCACAGGTTTAATTCGAGCGAAAAAATAATAAATATCAGGGAATTTCTAAA... | pathogenic | 331,874 |
A genetic alteration at chromosome X, position 32346069, in gene DMD (dystrophin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Duchenne_muscular_dystrophy'] | GTGCATGCTTTCAAATCAATGTGATAAGACTAATTTAATAAATCAACAATGGGAGGAAATCAGTCATCATGCTCTTTACAAGCACACTCAATATCTTCTGTGATTAATAGAATTACTCAAAATGCCATTTTATAATTCATGGGAACATAAGCTCTGCATGCAGCTTTCATTTCTACAGAAAGTAGCAATTAGGGTTTTATTCACAGGTTTAATTCGAGCGAAAAAATAATAAATATCAGGGAATTTCTAAAAATTTCATTCCATTGGAAAATTTTGACCTTCTCTAAAATATTTCATAAGGACCAGAATTGGAACTATTT... | GTGCATGCTTTCAAATCAATGTGATAAGACTAATTTAATAAATCAACAATGGGAGGAAATCAGTCATCATGCTCTTTACAAGCACACTCAATATCTTCTGTGATTAATAGAATTACTCAAAATGCCATTTTATAATTCATGGGAACATAAGCTCTGCATGCAGCTTTCATTTCTACAGAAAGTAGCAATTAGGGTTTTATTCACAGGTTTAATTCGAGCGAAAAAATAATAAATATCAGGGAATTTCTAAAAATTTCATTCCATTGGAAAATTTTGACCTTCTCTAAAATATTTCATAAGGACCAGAATTGGAACTATTT... | pathogenic | 331,879 |
Variant at chromosome position 32346089, chromosome X, gene DMD (dystrophin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GTGATAAGACTAATTTAATAAATCAACAATGGGAGGAAATCAGTCATCATGCTCTTTACAAGCACACTCAATATCTTCTGTGATTAATAGAATTACTCAAAATGCCATTTTATAATTCATGGGAACATAAGCTCTGCATGCAGCTTTCATTTCTACAGAAAGTAGCAATTAGGGTTTTATTCACAGGTTTAATTCGAGCGAAAAAATAATAAATATCAGGGAATTTCTAAAAATTTCATTCCATTGGAAAATTTTGACCTTCTCTAAAATATTTCATAAGGACCAGAATTGGAACTATTTGACAGGTTTAAAAAGTTATT... | GTGATAAGACTAATTTAATAAATCAACAATGGGAGGAAATCAGTCATCATGCTCTTTACAAGCACACTCAATATCTTCTGTGATTAATAGAATTACTCAAAATGCCATTTTATAATTCATGGGAACATAAGCTCTGCATGCAGCTTTCATTTCTACAGAAAGTAGCAATTAGGGTTTTATTCACAGGTTTAATTCGAGCGAAAAAATAATAAATATCAGGGAATTTCTAAAAATTTCATTCCATTGGAAAATTTTGACCTTCTCTAAAATATTTCATAAGGACCAGAATTGGAACTATTTGACAGGTTTAAAAAGTTATT... | benign | 331,881 |
The chromosome X, position 32348466 genetic variant in gene DMD (dystrophin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | TAGAGAAATGAGCTAAAGTTATCATTTATAATGTTAACTGATCCATAAAGGAATACAGATGTGTATTTGTGACTGAGATAACAGCAAATCTGAAAATATTAACACACAACTACATGAAAATATTTTGATTTAAATGTACACTAATTCCTATCTAATAACTCCTGCTTCATTTCTGAAACCTAAATGCTCAATATTAATAGGAGAAATATCAGGATATTAATAAAAATCATGTGCTAAGTTACCATCAAATAATTTCTAAAATATGTCATATATGCATGTTAATTTAAATACGATCAAATAATACTAAAATATGGACTGGA... | TAGAGAAATGAGCTAAAGTTATCATTTATAATGTTAACTGATCCATAAAGGAATACAGATGTGTATTTGTGACTGAGATAACAGCAAATCTGAAAATATTAACACACAACTACATGAAAATATTTTGATTTAAATGTACACTAATTCCTATCTAATAACTCCTGCTTCATTTCTGAAACCTAAATGCTCAATATTAATAGGAGAAATATCAGGATATTAATAAAAATCATGTGCTAAGTTACCATCAAATAATTTCTAAAATATGTCATATATGCATGTTAATTTAAATACGATCAAATAATACTAAAATATGGACTGGA... | pathogenic | 331,890 |
A genetic variant at chromosome X, position 32348495, affecting gene DMD (dystrophin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | AATGTTAACTGATCCATAAAGGAATACAGATGTGTATTTGTGACTGAGATAACAGCAAATCTGAAAATATTAACACACAACTACATGAAAATATTTTGATTTAAATGTACACTAATTCCTATCTAATAACTCCTGCTTCATTTCTGAAACCTAAATGCTCAATATTAATAGGAGAAATATCAGGATATTAATAAAAATCATGTGCTAAGTTACCATCAAATAATTTCTAAAATATGTCATATATGCATGTTAATTTAAATACGATCAAATAATACTAAAATATGGACTGGAAAATGGCTTTAAACATTTTCAATGGGTAT... | AATGTTAACTGATCCATAAAGGAATACAGATGTGTATTTGTGACTGAGATAACAGCAAATCTGAAAATATTAACACACAACTACATGAAAATATTTTGATTTAAATGTACACTAATTCCTATCTAATAACTCCTGCTTCATTTCTGAAACCTAAATGCTCAATATTAATAGGAGAAATATCAGGATATTAATAAAAATCATGTGCTAAGTTACCATCAAATAATTTCTAAAATATGTCATATATGCATGTTAATTTAAATACGATCAAATAATACTAAAATATGGACTGGAAAATGGCTTTAAACATTTTCAATGGGTAT... | pathogenic | 331,893 |
Variant in gene DMD (dystrophin), located at chromosome X position 32348530: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ATTTGTGACTGAGATAACAGCAAATCTGAAAATATTAACACACAACTACATGAAAATATTTTGATTTAAATGTACACTAATTCCTATCTAATAACTCCTGCTTCATTTCTGAAACCTAAATGCTCAATATTAATAGGAGAAATATCAGGATATTAATAAAAATCATGTGCTAAGTTACCATCAAATAATTTCTAAAATATGTCATATATGCATGTTAATTTAAATACGATCAAATAATACTAAAATATGGACTGGAAAATGGCTTTAAACATTTTCAATGGGTATTTTGTTCCTTTAGGCTGCAAGAACAATATCTTAAT... | ATTTGTGACTGAGATAACAGCAAATCTGAAAATATTAACACACAACTACATGAAAATATTTTGATTTAAATGTACACTAATTCCTATCTAATAACTCCTGCTTCATTTCTGAAACCTAAATGCTCAATATTAATAGGAGAAATATCAGGATATTAATAAAAATCATGTGCTAAGTTACCATCAAATAATTTCTAAAATATGTCATATATGCATGTTAATTTAAATACGATCAAATAATACTAAAATATGGACTGGAAAATGGCTTTAAACATTTTCAATGGGTATTTTGTTCCTTTAGGCTGCAAGAACAATATCTTAAT... | benign | 331,897 |
Does the variant on chromosome X at location 32364596 affecting gene DMD (dystrophin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Duchenne_muscular_dystrophy'] | TATGGCAGCAAAAGATGAGAGAGAAAAAGAGACAGAGAGAGACAGAGAGAGACAGAGACGGGGAGGAGTGGCGTTTATCTCCCATTATAATCAGTGGTAAAATTTCCTTAAATACATTTTGGCATTCATTTTCCTTTTGAAAACCTTGCTGTGGGGTCTACTTGCCCCTTTCAGAGTACTGCGCAACCTTCGCAAGAGACCATTTAGCACAAGTTTCCACCTTGGAGTAGATCTTCCTACCTTTCCAGTCTTAATTCTGTGTGAAATGGCTGCAAATCGATGGTTGAGCTCTGAGATTTGGGGCTCTACTAATTTCCTGC... | TATGGCAGCAAAAGATGAGAGAGAAAAAGAGACAGAGAGAGACAGAGAGAGACAGAGACGGGGAGGAGTGGCGTTTATCTCCCATTATAATCAGTGGTAAAATTTCCTTAAATACATTTTGGCATTCATTTTCCTTTTGAAAACCTTGCTGTGGGGTCTACTTGCCCCTTTCAGAGTACTGCGCAACCTTCGCAAGAGACCATTTAGCACAAGTTTCCACCTTGGAGTAGATCTTCCTACCTTTCCAGTCTTAATTCTGTGTGAAATGGCTGCAAATCGATGGTTGAGCTCTGAGATTTGGGGCTCTACTAATTTCCTGC... | pathogenic | 331,915 |
Chromosome X, position 32364608, gene DMD (dystrophin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Duchenne_muscular_dystrophy'] | AGATGAGAGAGAAAAAGAGACAGAGAGAGACAGAGAGAGACAGAGACGGGGAGGAGTGGCGTTTATCTCCCATTATAATCAGTGGTAAAATTTCCTTAAATACATTTTGGCATTCATTTTCCTTTTGAAAACCTTGCTGTGGGGTCTACTTGCCCCTTTCAGAGTACTGCGCAACCTTCGCAAGAGACCATTTAGCACAAGTTTCCACCTTGGAGTAGATCTTCCTACCTTTCCAGTCTTAATTCTGTGTGAAATGGCTGCAAATCGATGGTTGAGCTCTGAGATTTGGGGCTCTACTAATTTCCTGCAGTGGTCACCGC... | AGATGAGAGAGAAAAAGAGACAGAGAGAGACAGAGAGAGACAGAGACGGGGAGGAGTGGCGTTTATCTCCCATTATAATCAGTGGTAAAATTTCCTTAAATACATTTTGGCATTCATTTTCCTTTTGAAAACCTTGCTGTGGGGTCTACTTGCCCCTTTCAGAGTACTGCGCAACCTTCGCAAGAGACCATTTAGCACAAGTTTCCACCTTGGAGTAGATCTTCCTACCTTTCCAGTCTTAATTCTGTGTGAAATGGCTGCAAATCGATGGTTGAGCTCTGAGATTTGGGGCTCTACTAATTTCCTGCAGTGGTCACCGC... | pathogenic | 331,918 |
Chromosome X, position 32364630, gene DMD (dystrophin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Duchenne_muscular_dystrophy', 'Qualitative_or_quantitative_defects_of_dystrophin'] | GAGAGAGACAGAGAGAGACAGAGACGGGGAGGAGTGGCGTTTATCTCCCATTATAATCAGTGGTAAAATTTCCTTAAATACATTTTGGCATTCATTTTCCTTTTGAAAACCTTGCTGTGGGGTCTACTTGCCCCTTTCAGAGTACTGCGCAACCTTCGCAAGAGACCATTTAGCACAAGTTTCCACCTTGGAGTAGATCTTCCTACCTTTCCAGTCTTAATTCTGTGTGAAATGGCTGCAAATCGATGGTTGAGCTCTGAGATTTGGGGCTCTACTAATTTCCTGCAGTGGTCACCGCGGTTTGCCATCAAGTTTGCTGC... | GAGAGAGACAGAGAGAGACAGAGACGGGGAGGAGTGGCGTTTATCTCCCATTATAATCAGTGGTAAAATTTCCTTAAATACATTTTGGCATTCATTTTCCTTTTGAAAACCTTGCTGTGGGGTCTACTTGCCCCTTTCAGAGTACTGCGCAACCTTCGCAAGAGACCATTTAGCACAAGTTTCCACCTTGGAGTAGATCTTCCTACCTTTCCAGTCTTAATTCTGTGTGAAATGGCTGCAAATCGATGGTTGAGCTCTGAGATTTGGGGCTCTACTAATTTCCTGCAGTGGTCACCGCGGTTTGCCATCAAGTTTGCTGC... | pathogenic | 331,921 |
Does the variant impacting DMD (dystrophin) on chromosome X, position 32365126, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Duchenne_muscular_dystrophy'] | GAGAAAGTAAGAAAATGAGAGCAAGCACATGCAGAAAATACAAAGGGAGATAAAACCACAACTTCCATAAAACAGGACTAAAATGAAAATGCGTGTGATTTCAGAAAAATAGATCACCGTCCTTAAGTTTGATGCATGTCTATTTAAAATGTTTATTTAGTCCGAGGAAGGACAGGGATGTTTTCCCAACTATGTTGTTGCAACTATCATAATATATTCTATTTAGTCTTATTTTATTATATCGTTACTGAATTTAATAGTTGTGGAATGAACTAAGTATGTGCTCAGGAGGTCAGGTAGCTGAAGAACACTTTTCTATT... | GAGAAAGTAAGAAAATGAGAGCAAGCACATGCAGAAAATACAAAGGGAGATAAAACCACAACTTCCATAAAACAGGACTAAAATGAAAATGCGTGTGATTTCAGAAAAATAGATCACCGTCCTTAAGTTTGATGCATGTCTATTTAAAATGTTTATTTAGTCCGAGGAAGGACAGGGATGTTTTCCCAACTATGTTGTTGCAACTATCATAATATATTCTATTTAGTCTTATTTTATTATATCGTTACTGAATTTAATAGTTGTGGAATGAACTAAGTATGTGCTCAGGAGGTCAGGTAGCTGAAGAACACTTTTCTATT... | pathogenic | 331,946 |
Considering the variant on chromosome X, location 32380567, involving gene DMD (dystrophin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Becker_muscular_dystrophy'] | ACTTCATGAGTAATTGACATTTTTATGTATTTGAATATTTGAAACTAGATGTTCAAATACTTTCATACGAAAATAAATATAATGTTCTTGGGTCAACAGAACTGGGAGAAATTCAGCAGATATAAATTAAATTGTCTAAAAATTTTTTAAAATAATAAAAAAGAAATTGACTCTAGATATTCAAATTTGCTGCAGTCACATTCCAAATACTTGGAATGATCGGCAACTACATTTAATGTATTGCATTTAAATGAATTTAATTTAGTTTTTAAAAATGTGACATTTATCTTTTGAAACAGCAGATGAAACTTATAGCTTGA... | ACTTCATGAGTAATTGACATTTTTATGTATTTGAATATTTGAAACTAGATGTTCAAATACTTTCATACGAAAATAAATATAATGTTCTTGGGTCAACAGAACTGGGAGAAATTCAGCAGATATAAATTAAATTGTCTAAAAATTTTTTAAAATAATAAAAAAGAAATTGACTCTAGATATTCAAATTTGCTGCAGTCACATTCCAAATACTTGGAATGATCGGCAACTACATTTAATGTATTGCATTTAAATGAATTTAATTTAGTTTTTAAAAATGTGACATTTATCTTTTGAAACAGCAGATGAAACTTATAGCTTGA... | pathogenic | 331,959 |
Variant in DMD (dystrophin), chromosome X, position 32380665—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Duchenne_muscular_dystrophy'] | GAACTGGGAGAAATTCAGCAGATATAAATTAAATTGTCTAAAAATTTTTTAAAATAATAAAAAAGAAATTGACTCTAGATATTCAAATTTGCTGCAGTCACATTCCAAATACTTGGAATGATCGGCAACTACATTTAATGTATTGCATTTAAATGAATTTAATTTAGTTTTTAAAAATGTGACATTTATCTTTTGAAACAGCAGATGAAACTTATAGCTTGAATTAAGCTCTCCACCTACCAAGAAACCATGAGAAATGAGAATGTACTCAATAGTCACGGGGTTTCATATATGAGAGTTTGAATTTTATGTTAAAATAT... | GAACTGGGAGAAATTCAGCAGATATAAATTAAATTGTCTAAAAATTTTTTAAAATAATAAAAAAGAAATTGACTCTAGATATTCAAATTTGCTGCAGTCACATTCCAAATACTTGGAATGATCGGCAACTACATTTAATGTATTGCATTTAAATGAATTTAATTTAGTTTTTAAAAATGTGACATTTATCTTTTGAAACAGCAGATGAAACTTATAGCTTGAATTAAGCTCTCCACCTACCAAGAAACCATGAGAAATGAGAATGTACTCAATAGTCACGGGGTTTCATATATGAGAGTTTGAATTTTATGTTAAAATAT... | pathogenic | 331,964 |
Assess the variant on chromosome X, position 32380670, impacting DMD (dystrophin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Dilated_cardiomyopathy_3B', 'Duchenne_muscular_dystrophy'] | GGGAGAAATTCAGCAGATATAAATTAAATTGTCTAAAAATTTTTTAAAATAATAAAAAAGAAATTGACTCTAGATATTCAAATTTGCTGCAGTCACATTCCAAATACTTGGAATGATCGGCAACTACATTTAATGTATTGCATTTAAATGAATTTAATTTAGTTTTTAAAAATGTGACATTTATCTTTTGAAACAGCAGATGAAACTTATAGCTTGAATTAAGCTCTCCACCTACCAAGAAACCATGAGAAATGAGAATGTACTCAATAGTCACGGGGTTTCATATATGAGAGTTTGAATTTTATGTTAAAATATTAGAA... | GGGAGAAATTCAGCAGATATAAATTAAATTGTCTAAAAATTTTTTAAAATAATAAAAAAGAAATTGACTCTAGATATTCAAATTTGCTGCAGTCACATTCCAAATACTTGGAATGATCGGCAACTACATTTAATGTATTGCATTTAAATGAATTTAATTTAGTTTTTAAAAATGTGACATTTATCTTTTGAAACAGCAGATGAAACTTATAGCTTGAATTAAGCTCTCCACCTACCAAGAAACCATGAGAAATGAGAATGTACTCAATAGTCACGGGGTTTCATATATGAGAGTTTGAATTTTATGTTAAAATATTAGAA... | pathogenic | 331,965 |
Regarding the variant at chromosome X and position 32386434, affecting gene DMD (dystrophin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Duchenne_muscular_dystrophy', 'Dystrophin_deficiency'] | CTTGGTAGACCAAATGAACAGTTGAAATGTATTTTATTTCAAGATTATCATAATGCTTTCCCATCAATTGAGTATCAGTGTTTCTTATTTTGAAACAAAGTAGGAGAATCTTTTGTCATAGGATGGCAACAAACTTGTTTAAAACATAACAAATATTAATTAGAGGGTTTTTAAAATATAAAAACAAGACTATCTAAGAAAAATGATTACTTCCAGATTTCAACTTAATTATAAAATTTACTTTCTATGGTAAGGAATTGGCAACTAATATCTTGAAGATATAACCTTCAATCTACTTTCAGGCTGAGATGCAAGAAATA... | CTTGGTAGACCAAATGAACAGTTGAAATGTATTTTATTTCAAGATTATCATAATGCTTTCCCATCAATTGAGTATCAGTGTTTCTTATTTTGAAACAAAGTAGGAGAATCTTTTGTCATAGGATGGCAACAAACTTGTTTAAAACATAACAAATATTAATTAGAGGGTTTTTAAAATATAAAAACAAGACTATCTAAGAAAAATGATTACTTCCAGATTTCAACTTAATTATAAAATTTACTTTCTATGGTAAGGAATTGGCAACTAATATCTTGAAGATATAACCTTCAATCTACTTTCAGGCTGAGATGCAAGAAATA... | pathogenic | 331,977 |
Determine if the mutation at chromosome X, position 32386442 in gene DMD (dystrophin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Duchenne_muscular_dystrophy'] | ACCAAATGAACAGTTGAAATGTATTTTATTTCAAGATTATCATAATGCTTTCCCATCAATTGAGTATCAGTGTTTCTTATTTTGAAACAAAGTAGGAGAATCTTTTGTCATAGGATGGCAACAAACTTGTTTAAAACATAACAAATATTAATTAGAGGGTTTTTAAAATATAAAAACAAGACTATCTAAGAAAAATGATTACTTCCAGATTTCAACTTAATTATAAAATTTACTTTCTATGGTAAGGAATTGGCAACTAATATCTTGAAGATATAACCTTCAATCTACTTTCAGGCTGAGATGCAAGAAATATGCCTCTC... | ACCAAATGAACAGTTGAAATGTATTTTATTTCAAGATTATCATAATGCTTTCCCATCAATTGAGTATCAGTGTTTCTTATTTTGAAACAAAGTAGGAGAATCTTTTGTCATAGGATGGCAACAAACTTGTTTAAAACATAACAAATATTAATTAGAGGGTTTTTAAAATATAAAAACAAGACTATCTAAGAAAAATGATTACTTCCAGATTTCAACTTAATTATAAAATTTACTTTCTATGGTAAGGAATTGGCAACTAATATCTTGAAGATATAACCTTCAATCTACTTTCAGGCTGAGATGCAAGAAATATGCCTCTC... | pathogenic | 331,978 |
A genetic variant at chromosome X, position 32386460, affecting gene DMD (dystrophin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Becker_muscular_dystrophy', 'Duchenne_muscular_dystrophy'] | ATGTATTTTATTTCAAGATTATCATAATGCTTTCCCATCAATTGAGTATCAGTGTTTCTTATTTTGAAACAAAGTAGGAGAATCTTTTGTCATAGGATGGCAACAAACTTGTTTAAAACATAACAAATATTAATTAGAGGGTTTTTAAAATATAAAAACAAGACTATCTAAGAAAAATGATTACTTCCAGATTTCAACTTAATTATAAAATTTACTTTCTATGGTAAGGAATTGGCAACTAATATCTTGAAGATATAACCTTCAATCTACTTTCAGGCTGAGATGCAAGAAATATGCCTCTCCTTAGCTATTTCTCAAAC... | ATGTATTTTATTTCAAGATTATCATAATGCTTTCCCATCAATTGAGTATCAGTGTTTCTTATTTTGAAACAAAGTAGGAGAATCTTTTGTCATAGGATGGCAACAAACTTGTTTAAAACATAACAAATATTAATTAGAGGGTTTTTAAAATATAAAAACAAGACTATCTAAGAAAAATGATTACTTCCAGATTTCAACTTAATTATAAAATTTACTTTCTATGGTAAGGAATTGGCAACTAATATCTTGAAGATATAACCTTCAATCTACTTTCAGGCTGAGATGCAAGAAATATGCCTCTCCTTAGCTATTTCTCAAAC... | pathogenic | 331,981 |
The chromosome X, position 32389546 genetic variant in gene DMD (dystrophin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | ATTAGAACAAAAATTGGGTTTAATTTCTCTTTTCAGTTTAAAAGTAATGTCTAAAAAAAAGCATTTTGTAAAGGCTGGACAATTATCTGATCAATGCTACATGTATATTTCCATATTAATCCTCTTTGACAAATGATGTTAACATTCCTTCATCACTAATAATTATGACTTTTGTCTGAGTTTCCCAGATGATATTATTTACTTCATTTTACTTTTTTCTTAGAAGATATAAAAATATCTGTGTATCTGGAAACACTGAAATTAATTATTATGTTGGAAATCAACGATGCTAATTTGGAATCAGAGATTTTTCTAAATTA... | ATTAGAACAAAAATTGGGTTTAATTTCTCTTTTCAGTTTAAAAGTAATGTCTAAAAAAAAGCATTTTGTAAAGGCTGGACAATTATCTGATCAATGCTACATGTATATTTCCATATTAATCCTCTTTGACAAATGATGTTAACATTCCTTCATCACTAATAATTATGACTTTTGTCTGAGTTTCCCAGATGATATTATTTACTTCATTTTACTTTTTTCTTAGAAGATATAAAAATATCTGTGTATCTGGAAACACTGAAATTAATTATTATGTTGGAAATCAACGATGCTAATTTGGAATCAGAGATTTTTCTAAATTA... | pathogenic | 331,988 |
A genetic variant at chromosome X, position 32389668, affecting gene DMD (dystrophin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | TCTTTGACAAATGATGTTAACATTCCTTCATCACTAATAATTATGACTTTTGTCTGAGTTTCCCAGATGATATTATTTACTTCATTTTACTTTTTTCTTAGAAGATATAAAAATATCTGTGTATCTGGAAACACTGAAATTAATTATTATGTTGGAAATCAACGATGCTAATTTGGAATCAGAGATTTTTCTAAATTATTTACTCTCTGAACTTCAAAAAATATAAATGCTTTATTTTGATGAAGAAAGTTCCCTCAAGGTACCGTTAGCCATTAACATTGTTTCATTCAATAGGCAAGTAAAATATTTATAAACAAAGG... | TCTTTGACAAATGATGTTAACATTCCTTCATCACTAATAATTATGACTTTTGTCTGAGTTTCCCAGATGATATTATTTACTTCATTTTACTTTTTTCTTAGAAGATATAAAAATATCTGTGTATCTGGAAACACTGAAATTAATTATTATGTTGGAAATCAACGATGCTAATTTGGAATCAGAGATTTTTCTAAATTATTTACTCTCTGAACTTCAAAAAATATAAATGCTTTATTTTGATGAAGAAAGTTCCCTCAAGGTACCGTTAGCCATTAACATTGTTTCATTCAATAGGCAAGTAAAATATTTATAAACAAAGG... | pathogenic | 331,999 |
Mutation found at chromosome X position 32390099, gene DMD (dystrophin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | AATGAAAAAACTAAACAGTGTAAGGATATTCTTATGAAAGAACTGCTTCAATTGGTCCTGACATTTAAACCAGAACCAGAAACCAATTGAGCAAATGCCTTGAGCAGTTTCCTTTGTACTGACGCAGGGCACAGTCACAGCTTGACACAGGTGAGATTGTTTTCAGCTCATATTTACTGTTGGATACATTTTATAAGGTAACATTAGAGACCTGTTTCTAGAAAAGAACGAAAAGTGCTCACTTTGCAAATATTAGTCATGAATAAGGCACTTGGGTCATTTATGCTTTCCTTTTTTTTTTTTTTGGCAAAATTTAAGAT... | AATGAAAAAACTAAACAGTGTAAGGATATTCTTATGAAAGAACTGCTTCAATTGGTCCTGACATTTAAACCAGAACCAGAAACCAATTGAGCAAATGCCTTGAGCAGTTTCCTTTGTACTGACGCAGGGCACAGTCACAGCTTGACACAGGTGAGATTGTTTTCAGCTCATATTTACTGTTGGATACATTTTATAAGGTAACATTAGAGACCTGTTTCTAGAAAAGAACGAAAAGTGCTCACTTTGCAAATATTAGTCATGAATAAGGCACTTGGGTCATTTATGCTTTCCTTTTTTTTTTTTTTGGCAAAATTTAAGAT... | pathogenic | 332,004 |
Determine whether the variant at chromosome X, position 32390119, in gene DMD (dystrophin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | TAAGGATATTCTTATGAAAGAACTGCTTCAATTGGTCCTGACATTTAAACCAGAACCAGAAACCAATTGAGCAAATGCCTTGAGCAGTTTCCTTTGTACTGACGCAGGGCACAGTCACAGCTTGACACAGGTGAGATTGTTTTCAGCTCATATTTACTGTTGGATACATTTTATAAGGTAACATTAGAGACCTGTTTCTAGAAAAGAACGAAAAGTGCTCACTTTGCAAATATTAGTCATGAATAAGGCACTTGGGTCATTTATGCTTTCCTTTTTTTTTTTTTTGGCAAAATTTAAGATGGGATATGTTCCCATATATT... | TAAGGATATTCTTATGAAAGAACTGCTTCAATTGGTCCTGACATTTAAACCAGAACCAGAAACCAATTGAGCAAATGCCTTGAGCAGTTTCCTTTGTACTGACGCAGGGCACAGTCACAGCTTGACACAGGTGAGATTGTTTTCAGCTCATATTTACTGTTGGATACATTTTATAAGGTAACATTAGAGACCTGTTTCTAGAAAAGAACGAAAAGTGCTCACTTTGCAAATATTAGTCATGAATAAGGCACTTGGGTCATTTATGCTTTCCTTTTTTTTTTTTTTGGCAAAATTTAAGATGGGATATGTTCCCATATATT... | pathogenic | 332,008 |
Clinically, how would you classify the variant at chromosome X, position 32390123, gene DMD (dystrophin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Duchenne_muscular_dystrophy'] | GATATTCTTATGAAAGAACTGCTTCAATTGGTCCTGACATTTAAACCAGAACCAGAAACCAATTGAGCAAATGCCTTGAGCAGTTTCCTTTGTACTGACGCAGGGCACAGTCACAGCTTGACACAGGTGAGATTGTTTTCAGCTCATATTTACTGTTGGATACATTTTATAAGGTAACATTAGAGACCTGTTTCTAGAAAAGAACGAAAAGTGCTCACTTTGCAAATATTAGTCATGAATAAGGCACTTGGGTCATTTATGCTTTCCTTTTTTTTTTTTTTGGCAAAATTTAAGATGGGATATGTTCCCATATATTCCTA... | GATATTCTTATGAAAGAACTGCTTCAATTGGTCCTGACATTTAAACCAGAACCAGAAACCAATTGAGCAAATGCCTTGAGCAGTTTCCTTTGTACTGACGCAGGGCACAGTCACAGCTTGACACAGGTGAGATTGTTTTCAGCTCATATTTACTGTTGGATACATTTTATAAGGTAACATTAGAGACCTGTTTCTAGAAAAGAACGAAAAGTGCTCACTTTGCAAATATTAGTCATGAATAAGGCACTTGGGTCATTTATGCTTTCCTTTTTTTTTTTTTTGGCAAAATTTAAGATGGGATATGTTCCCATATATTCCTA... | pathogenic | 332,009 |
Evaluate the clinical significance of the mutation at chromosome X, position 32438372 in gene DMD (dystrophin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Duchenne_muscular_dystrophy', 'Qualitative_or_quantitative_defects_of_dystrophin'] | ACTGAGTGGTTTCTGTGCCCTGTCTGGACCCTGACTACTAATACAAGGTGTTATTCTAGCCCAAGTTTCAAGTATTTTCTTATTCAAAAGTTTATGCTTTAAAAACTCAGTCCAGAAAATAAGATAATACGTGTTGAATCAGGGTATGTTGCTGAAATGAATTATTTTTTCTTTGGGGGAAATGTCAGGGTTTATACCAAAAACCTTTAAAATAGAAGGTTATAAGTAGTTTTGTGTTAATAAAGGATTGCAATATAATTACATTAATAGAGTTAATACCAAGATCAAGTTAGAGAGTAAGCTATTCCTAAGGACAGAAT... | ACTGAGTGGTTTCTGTGCCCTGTCTGGACCCTGACTACTAATACAAGGTGTTATTCTAGCCCAAGTTTCAAGTATTTTCTTATTCAAAAGTTTATGCTTTAAAAACTCAGTCCAGAAAATAAGATAATACGTGTTGAATCAGGGTATGTTGCTGAAATGAATTATTTTTTCTTTGGGGGAAATGTCAGGGTTTATACCAAAAACCTTTAAAATAGAAGGTTATAAGTAGTTTTGTGTTAATAAAGGATTGCAATATAATTACATTAATAGAGTTAATACCAAGATCAAGTTAGAGAGTAAGCTATTCCTAAGGACAGAAT... | pathogenic | 332,041 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 32448494, gene DMD (dystrophin): what disease(s) if pathogenic? | pathogenic | AACTGCATCATTATCCAATACTCAGGGCAAAATAAAGGCATTTTCAATATGTAAAATCTGAACACATTTGCTACTCACACTCAAGGAAAGAGCAAGAAAGAAACTGAACACAGAAGCAAAGGGAAGAACAAAAGGCAAAACTGATCACAAAAACTGGGAAAATAGCATCGGTAAATCTAAATAAATATTATATGAAATAGTTAAAACAACAGCAGCAGCAACAGCAATTATATGGACTAATTTGGGGGAAATAAGGTGAAAATGAAATATGAGGCAACAATAACGCGGAAAACGGAAGAGGTAGGTTCAGAGTTAAACTA... | AACTGCATCATTATCCAATACTCAGGGCAAAATAAAGGCATTTTCAATATGTAAAATCTGAACACATTTGCTACTCACACTCAAGGAAAGAGCAAGAAAGAAACTGAACACAGAAGCAAAGGGAAGAACAAAAGGCAAAACTGATCACAAAAACTGGGAAAATAGCATCGGTAAATCTAAATAAATATTATATGAAATAGTTAAAACAACAGCAGCAGCAACAGCAATTATATGGACTAATTTGGGGGAAATAAGGTGAAAATGAAATATGAGGCAACAATAACGCGGAAAACGGAAGAGGTAGGTTCAGAGTTAAACTA... | pathogenic | 332,058 |
Is the genetic mutation found on chromosome X at position 32448528, within the gene DMD (dystrophin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | AAGGCATTTTCAATATGTAAAATCTGAACACATTTGCTACTCACACTCAAGGAAAGAGCAAGAAAGAAACTGAACACAGAAGCAAAGGGAAGAACAAAAGGCAAAACTGATCACAAAAACTGGGAAAATAGCATCGGTAAATCTAAATAAATATTATATGAAATAGTTAAAACAACAGCAGCAGCAACAGCAATTATATGGACTAATTTGGGGGAAATAAGGTGAAAATGAAATATGAGGCAACAATAACGCGGAAAACGGAAGAGGTAGGTTCAGAGTTAAACTATGCTAATGTTTCCACCATATTATTGTTAGAGAGG... | AAGGCATTTTCAATATGTAAAATCTGAACACATTTGCTACTCACACTCAAGGAAAGAGCAAGAAAGAAACTGAACACAGAAGCAAAGGGAAGAACAAAAGGCAAAACTGATCACAAAAACTGGGAAAATAGCATCGGTAAATCTAAATAAATATTATATGAAATAGTTAAAACAACAGCAGCAGCAACAGCAATTATATGGACTAATTTGGGGGAAATAAGGTGAAAATGAAATATGAGGCAACAATAACGCGGAAAACGGAAGAGGTAGGTTCAGAGTTAAACTATGCTAATGTTTCCACCATATTATTGTTAGAGAGG... | pathogenic | 332,061 |
Is chromosome X, position 32448602, gene DMD (dystrophin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic | CACAGAAGCAAAGGGAAGAACAAAAGGCAAAACTGATCACAAAAACTGGGAAAATAGCATCGGTAAATCTAAATAAATATTATATGAAATAGTTAAAACAACAGCAGCAGCAACAGCAATTATATGGACTAATTTGGGGGAAATAAGGTGAAAATGAAATATGAGGCAACAATAACGCGGAAAACGGAAGAGGTAGGTTCAGAGTTAAACTATGCTAATGTTTCCACCATATTATTGTTAGAGAGGTATAGAGAAATATTTATAAGATAAAATAAAGTACATATTCCAAACCAGTGAAAAAGGACTAAAATGGAACTCAA... | CACAGAAGCAAAGGGAAGAACAAAAGGCAAAACTGATCACAAAAACTGGGAAAATAGCATCGGTAAATCTAAATAAATATTATATGAAATAGTTAAAACAACAGCAGCAGCAACAGCAATTATATGGACTAATTTGGGGGAAATAAGGTGAAAATGAAATATGAGGCAACAATAACGCGGAAAACGGAAGAGGTAGGTTCAGAGTTAAACTATGCTAATGTTTCCACCATATTATTGTTAGAGAGGTATAGAGAAATATTTATAAGATAAAATAAAGTACATATTCCAAACCAGTGAAAAAGGACTAAAATGGAACTCAA... | pathogenic | 332,066 |
Gene DMD (dystrophin) variant at chromosome position 32448611 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Duchenne_muscular_dystrophy'] | AAAGGGAAGAACAAAAGGCAAAACTGATCACAAAAACTGGGAAAATAGCATCGGTAAATCTAAATAAATATTATATGAAATAGTTAAAACAACAGCAGCAGCAACAGCAATTATATGGACTAATTTGGGGGAAATAAGGTGAAAATGAAATATGAGGCAACAATAACGCGGAAAACGGAAGAGGTAGGTTCAGAGTTAAACTATGCTAATGTTTCCACCATATTATTGTTAGAGAGGTATAGAGAAATATTTATAAGATAAAATAAAGTACATATTCCAAACCAGTGAAAAAGGACTAAAATGGAACTCAATAATTTGAT... | AAAGGGAAGAACAAAAGGCAAAACTGATCACAAAAACTGGGAAAATAGCATCGGTAAATCTAAATAAATATTATATGAAATAGTTAAAACAACAGCAGCAGCAACAGCAATTATATGGACTAATTTGGGGGAAATAAGGTGAAAATGAAATATGAGGCAACAATAACGCGGAAAACGGAAGAGGTAGGTTCAGAGTTAAACTATGCTAATGTTTCCACCATATTATTGTTAGAGAGGTATAGAGAAATATTTATAAGATAAAATAAAGTACATATTCCAAACCAGTGAAAAAGGACTAAAATGGAACTCAATAATTTGAT... | pathogenic | 332,069 |
Clinical significance of chromosome X, position 32454646, gene DMD (dystrophin): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AATCATTTGACCTATCTGGGAATTGCAGTTTTCTGATAAGCAGAGAGAGAAGTGTGAATTACACAAGTTTCAAAGTACCTTCTAGCTCTCACATTCTGATAAAGTTTTCCTCAGGGGTGACCTCCCCAAAGTCAAATTTTAAATTATTTTGGTCTTTTGAAATACTCCAATGGTTTTTCTTGTCCATTTAGAATAAAAACTGTGATACTCTAACAAAACCCGTTTGTTAACAGATATTTGCCCACCTCCTAAGACTTATCTGAGGTAATTTTATCCCATTTTCCTTCCTTCAGGCAGATTTCTTTCTCTTCCCAATTAGC... | AATCATTTGACCTATCTGGGAATTGCAGTTTTCTGATAAGCAGAGAGAGAAGTGTGAATTACACAAGTTTCAAAGTACCTTCTAGCTCTCACATTCTGATAAAGTTTTCCTCAGGGGTGACCTCCCCAAAGTCAAATTTTAAATTATTTTGGTCTTTTGAAATACTCCAATGGTTTTTCTTGTCCATTTAGAATAAAAACTGTGATACTCTAACAAAACCCGTTTGTTAACAGATATTTGCCCACCTCCTAAGACTTATCTGAGGTAATTTTATCCCATTTTCCTTCCTTCAGGCAGATTTCTTTCTCTTCCCAATTAGC... | benign | 332,072 |
A genetic variant at chromosome X, position 32454646, affecting gene DMD (dystrophin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AATCATTTGACCTATCTGGGAATTGCAGTTTTCTGATAAGCAGAGAGAGAAGTGTGAATTACACAAGTTTCAAAGTACCTTCTAGCTCTCACATTCTGATAAAGTTTTCCTCAGGGGTGACCTCCCCAAAGTCAAATTTTAAATTATTTTGGTCTTTTGAAATACTCCAATGGTTTTTCTTGTCCATTTAGAATAAAAACTGTGATACTCTAACAAAACCCGTTTGTTAACAGATATTTGCCCACCTCCTAAGACTTATCTGAGGTAATTTTATCCCATTTTCCTTCCTTCAGGCAGATTTCTTTCTCTTCCCAATTAGC... | AATCATTTGACCTATCTGGGAATTGCAGTTTTCTGATAAGCAGAGAGAGAAGTGTGAATTACACAAGTTTCAAAGTACCTTCTAGCTCTCACATTCTGATAAAGTTTTCCTCAGGGGTGACCTCCCCAAAGTCAAATTTTAAATTATTTTGGTCTTTTGAAATACTCCAATGGTTTTTCTTGTCCATTTAGAATAAAAACTGTGATACTCTAACAAAACCCGTTTGTTAACAGATATTTGCCCACCTCCTAAGACTTATCTGAGGTAATTTTATCCCATTTTCCTTCCTTCAGGCAGATTTCTTTCTCTTCCCAATTAGC... | benign | 332,073 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 32454659, gene DMD (dystrophin): what disease(s) if pathogenic? | pathogenic; ['Becker_muscular_dystrophy', 'Duchenne_muscular_dystrophy'] | ATCTGGGAATTGCAGTTTTCTGATAAGCAGAGAGAGAAGTGTGAATTACACAAGTTTCAAAGTACCTTCTAGCTCTCACATTCTGATAAAGTTTTCCTCAGGGGTGACCTCCCCAAAGTCAAATTTTAAATTATTTTGGTCTTTTGAAATACTCCAATGGTTTTTCTTGTCCATTTAGAATAAAAACTGTGATACTCTAACAAAACCCGTTTGTTAACAGATATTTGCCCACCTCCTAAGACTTATCTGAGGTAATTTTATCCCATTTTCCTTCCTTCAGGCAGATTTCTTTCTCTTCCCAATTAGCTTCAGGGTCTTTG... | ATCTGGGAATTGCAGTTTTCTGATAAGCAGAGAGAGAAGTGTGAATTACACAAGTTTCAAAGTACCTTCTAGCTCTCACATTCTGATAAAGTTTTCCTCAGGGGTGACCTCCCCAAAGTCAAATTTTAAATTATTTTGGTCTTTTGAAATACTCCAATGGTTTTTCTTGTCCATTTAGAATAAAAACTGTGATACTCTAACAAAACCCGTTTGTTAACAGATATTTGCCCACCTCCTAAGACTTATCTGAGGTAATTTTATCCCATTTTCCTTCCTTCAGGCAGATTTCTTTCTCTTCCCAATTAGCTTCAGGGTCTTTG... | pathogenic | 332,076 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 32454826, gene DMD (dystrophin): what disease(s) if pathogenic? | pathogenic; ['Duchenne_muscular_dystrophy'] | TGTCCATTTAGAATAAAAACTGTGATACTCTAACAAAACCCGTTTGTTAACAGATATTTGCCCACCTCCTAAGACTTATCTGAGGTAATTTTATCCCATTTTCCTTCCTTCAGGCAGATTTCTTTCTCTTCCCAATTAGCTTCAGGGTCTTTGCAGAAGCTATGCTCTCTGAATAGAATGTGTTTCCATAAAGATTTTTTTAAGTGGTTGGCTTTTCCTTATGATTCAGTTCTCTCATATTACATACAATTCTTCATAAATGCTCTATAAGTCAAGTTTTTCTAAAATAGCATCCTACCACCCTCAAATCCTGCCTGAAC... | TGTCCATTTAGAATAAAAACTGTGATACTCTAACAAAACCCGTTTGTTAACAGATATTTGCCCACCTCCTAAGACTTATCTGAGGTAATTTTATCCCATTTTCCTTCCTTCAGGCAGATTTCTTTCTCTTCCCAATTAGCTTCAGGGTCTTTGCAGAAGCTATGCTCTCTGAATAGAATGTGTTTCCATAAAGATTTTTTTAAGTGGTTGGCTTTTCCTTATGATTCAGTTCTCTCATATTACATACAATTCTTCATAAATGCTCTATAAGTCAAGTTTTTCTAAAATAGCATCCTACCACCCTCAAATCCTGCCTGAAC... | pathogenic | 332,095 |
Assess the variant on chromosome X, position 32454830, impacting DMD (dystrophin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | CATTTAGAATAAAAACTGTGATACTCTAACAAAACCCGTTTGTTAACAGATATTTGCCCACCTCCTAAGACTTATCTGAGGTAATTTTATCCCATTTTCCTTCCTTCAGGCAGATTTCTTTCTCTTCCCAATTAGCTTCAGGGTCTTTGCAGAAGCTATGCTCTCTGAATAGAATGTGTTTCCATAAAGATTTTTTTAAGTGGTTGGCTTTTCCTTATGATTCAGTTCTCTCATATTACATACAATTCTTCATAAATGCTCTATAAGTCAAGTTTTTCTAAAATAGCATCCTACCACCCTCAAATCCTGCCTGAACATTA... | CATTTAGAATAAAAACTGTGATACTCTAACAAAACCCGTTTGTTAACAGATATTTGCCCACCTCCTAAGACTTATCTGAGGTAATTTTATCCCATTTTCCTTCCTTCAGGCAGATTTCTTTCTCTTCCCAATTAGCTTCAGGGTCTTTGCAGAAGCTATGCTCTCTGAATAGAATGTGTTTCCATAAAGATTTTTTTAAGTGGTTGGCTTTTCCTTATGATTCAGTTCTCTCATATTACATACAATTCTTCATAAATGCTCTATAAGTCAAGTTTTTCTAAAATAGCATCCTACCACCCTCAAATCCTGCCTGAACATTA... | pathogenic | 332,096 |
Is chromosome X, position 32454840, gene DMD (dystrophin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AAAAACTGTGATACTCTAACAAAACCCGTTTGTTAACAGATATTTGCCCACCTCCTAAGACTTATCTGAGGTAATTTTATCCCATTTTCCTTCCTTCAGGCAGATTTCTTTCTCTTCCCAATTAGCTTCAGGGTCTTTGCAGAAGCTATGCTCTCTGAATAGAATGTGTTTCCATAAAGATTTTTTTAAGTGGTTGGCTTTTCCTTATGATTCAGTTCTCTCATATTACATACAATTCTTCATAAATGCTCTATAAGTCAAGTTTTTCTAAAATAGCATCCTACCACCCTCAAATCCTGCCTGAACATTATTCATTCTTG... | AAAAACTGTGATACTCTAACAAAACCCGTTTGTTAACAGATATTTGCCCACCTCCTAAGACTTATCTGAGGTAATTTTATCCCATTTTCCTTCCTTCAGGCAGATTTCTTTCTCTTCCCAATTAGCTTCAGGGTCTTTGCAGAAGCTATGCTCTCTGAATAGAATGTGTTTCCATAAAGATTTTTTTAAGTGGTTGGCTTTTCCTTATGATTCAGTTCTCTCATATTACATACAATTCTTCATAAATGCTCTATAAGTCAAGTTTTTCTAAAATAGCATCCTACCACCCTCAAATCCTGCCTGAACATTATTCATTCTTG... | benign | 332,098 |
Does the variant impacting DMD (dystrophin) on chromosome X, position 32463481, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Duchenne_muscular_dystrophy'] | TCTAAGATTAGAAAATGGAGATCAGAACATAGCTTGGATCTATAGCTTTTTTGCTATGCAACAGATGAGTGTGTTTAAAATATATCTCTTGAACAACAAATTCTTAGTACATATAACAGACATAAGGTCTTAAGCAAAGACATTTTTAGAGAGCCTTTACAAATTGTACTCCTGTAAAATGTAAAAACCTTGAGGTTTTAGTAATATTGTTGGTTTTATACTTTTTTTTTTTGGCTGATGTTTTCCCCTTGCTCTACATAAATTGGTGATGTTCTTTTTATTCATCCATTAAGAACATTCAACAAACAAAAAACAAATAC... | TCTAAGATTAGAAAATGGAGATCAGAACATAGCTTGGATCTATAGCTTTTTTGCTATGCAACAGATGAGTGTGTTTAAAATATATCTCTTGAACAACAAATTCTTAGTACATATAACAGACATAAGGTCTTAAGCAAAGACATTTTTAGAGAGCCTTTACAAATTGTACTCCTGTAAAATGTAAAAACCTTGAGGTTTTAGTAATATTGTTGGTTTTATACTTTTTTTTTTTGGCTGATGTTTTCCCCTTGCTCTACATAAATTGGTGATGTTCTTTTTATTCATCCATTAAGAACATTCAACAAACAAAAAACAAATAC... | pathogenic | 332,110 |
Is the genetic change at chromosome X, position 32463504, within gene DMD (dystrophin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Duchenne_muscular_dystrophy'] | AGAACATAGCTTGGATCTATAGCTTTTTTGCTATGCAACAGATGAGTGTGTTTAAAATATATCTCTTGAACAACAAATTCTTAGTACATATAACAGACATAAGGTCTTAAGCAAAGACATTTTTAGAGAGCCTTTACAAATTGTACTCCTGTAAAATGTAAAAACCTTGAGGTTTTAGTAATATTGTTGGTTTTATACTTTTTTTTTTTGGCTGATGTTTTCCCCTTGCTCTACATAAATTGGTGATGTTCTTTTTATTCATCCATTAAGAACATTCAACAAACAAAAAACAAATACCTTTCACACTGGCCTTCCAGGAA... | AGAACATAGCTTGGATCTATAGCTTTTTTGCTATGCAACAGATGAGTGTGTTTAAAATATATCTCTTGAACAACAAATTCTTAGTACATATAACAGACATAAGGTCTTAAGCAAAGACATTTTTAGAGAGCCTTTACAAATTGTACTCCTGTAAAATGTAAAAACCTTGAGGTTTTAGTAATATTGTTGGTTTTATACTTTTTTTTTTTGGCTGATGTTTTCCCCTTGCTCTACATAAATTGGTGATGTTCTTTTTATTCATCCATTAAGAACATTCAACAAACAAAAAACAAATACCTTTCACACTGGCCTTCCAGGAA... | pathogenic | 332,113 |
Variant chromosome X, position 32463557, gene DMD (dystrophin): benign or pathogenic? Disease(s)? | pathogenic; ['Duchenne_muscular_dystrophy'] | AAAATATATCTCTTGAACAACAAATTCTTAGTACATATAACAGACATAAGGTCTTAAGCAAAGACATTTTTAGAGAGCCTTTACAAATTGTACTCCTGTAAAATGTAAAAACCTTGAGGTTTTAGTAATATTGTTGGTTTTATACTTTTTTTTTTTGGCTGATGTTTTCCCCTTGCTCTACATAAATTGGTGATGTTCTTTTTATTCATCCATTAAGAACATTCAACAAACAAAAAACAAATACCTTTCACACTGGCCTTCCAGGAAAACATCAATGGTATAATCTATTATTTAAGTAATATTTTTTTTTTTTCCTAAAC... | AAAATATATCTCTTGAACAACAAATTCTTAGTACATATAACAGACATAAGGTCTTAAGCAAAGACATTTTTAGAGAGCCTTTACAAATTGTACTCCTGTAAAATGTAAAAACCTTGAGGTTTTAGTAATATTGTTGGTTTTATACTTTTTTTTTTTGGCTGATGTTTTCCCCTTGCTCTACATAAATTGGTGATGTTCTTTTTATTCATCCATTAAGAACATTCAACAAACAAAAAACAAATACCTTTCACACTGGCCTTCCAGGAAAACATCAATGGTATAATCTATTATTTAAGTAATATTTTTTTTTTTTCCTAAAC... | pathogenic | 332,116 |
Variant on chromosome X, at position 32464583, affecting DMD (dystrophin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | AGATATCTATAAAATATTCTTCTGTAGAAAAATGAGAAACTCAAATATGAGTGTACAGTCATTTTGTGTGTGTTTTTTTTTGAAATTCAGCTATTCTTAATGGTTACTGAATCTTAATTGTTATTTAAAACTAGATGTCAGCCAGGTGTGGTAACTCACACCTATAATTCCAGCATTTTGGGAGGCCAAGGAAAGAGCATTGTTTGAGCCCAGGAATTCAAAACCAGCCTGGGAAACACAGCAAGACCCTGTCTCTACCAAAAAATAACAAAAAATTAGCCAGGCATGGTGGCACACACCTGTACTTCTAGCTACTTGTG... | AGATATCTATAAAATATTCTTCTGTAGAAAAATGAGAAACTCAAATATGAGTGTACAGTCATTTTGTGTGTGTTTTTTTTTGAAATTCAGCTATTCTTAATGGTTACTGAATCTTAATTGTTATTTAAAACTAGATGTCAGCCAGGTGTGGTAACTCACACCTATAATTCCAGCATTTTGGGAGGCCAAGGAAAGAGCATTGTTTGAGCCCAGGAATTCAAAACCAGCCTGGGAAACACAGCAAGACCCTGTCTCTACCAAAAAATAACAAAAAATTAGCCAGGCATGGTGGCACACACCTGTACTTCTAGCTACTTGTG... | pathogenic | 332,120 |
Does the variant on chromosome X at location 32464604 affecting gene DMD (dystrophin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Becker_muscular_dystrophy'] | CTGTAGAAAAATGAGAAACTCAAATATGAGTGTACAGTCATTTTGTGTGTGTTTTTTTTTGAAATTCAGCTATTCTTAATGGTTACTGAATCTTAATTGTTATTTAAAACTAGATGTCAGCCAGGTGTGGTAACTCACACCTATAATTCCAGCATTTTGGGAGGCCAAGGAAAGAGCATTGTTTGAGCCCAGGAATTCAAAACCAGCCTGGGAAACACAGCAAGACCCTGTCTCTACCAAAAAATAACAAAAAATTAGCCAGGCATGGTGGCACACACCTGTACTTCTAGCTACTTGTGGGGACTGAGATGGGAGAATTG... | CTGTAGAAAAATGAGAAACTCAAATATGAGTGTACAGTCATTTTGTGTGTGTTTTTTTTTGAAATTCAGCTATTCTTAATGGTTACTGAATCTTAATTGTTATTTAAAACTAGATGTCAGCCAGGTGTGGTAACTCACACCTATAATTCCAGCATTTTGGGAGGCCAAGGAAAGAGCATTGTTTGAGCCCAGGAATTCAAAACCAGCCTGGGAAACACAGCAAGACCCTGTCTCTACCAAAAAATAACAAAAAATTAGCCAGGCATGGTGGCACACACCTGTACTTCTAGCTACTTGTGGGGACTGAGATGGGAGAATTG... | pathogenic | 332,125 |
The chromosome X, position 32472178 genetic variant in gene DMD (dystrophin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | TTTACTTCTTCCTTTACAATTTAAGTTACAATTATTCATAGGTTTATTATTCATATATGTCTCTTTTTGGAGGATACCTTACTCAAGACTTTCTTCCTTACTCACAGAAAAAAAAAGATTCCTTGGTATCATATTTCTTTAAAATTGTCTCTGGTGTTTTTACAATGTTTGTGATTGTTTCCATCGATTTTTATGCTTCTCCACCTAAATTTTTATAACATTATTATTTTAAATATTTTCCAAAATTTGGGCTTCCCCACATTTTTTGAACATTTTATTGTATGTGGTTTTTATTTTGGTGTAACTTTGGGGGAAATGTT... | TTTACTTCTTCCTTTACAATTTAAGTTACAATTATTCATAGGTTTATTATTCATATATGTCTCTTTTTGGAGGATACCTTACTCAAGACTTTCTTCCTTACTCACAGAAAAAAAAAGATTCCTTGGTATCATATTTCTTTAAAATTGTCTCTGGTGTTTTTACAATGTTTGTGATTGTTTCCATCGATTTTTATGCTTCTCCACCTAAATTTTTATAACATTATTATTTTAAATATTTTCCAAAATTTGGGCTTCCCCACATTTTTTGAACATTTTATTGTATGTGGTTTTTATTTTGGTGTAACTTTGGGGGAAATGTT... | pathogenic | 332,159 |
Does the variant impacting DMD (dystrophin) on chromosome X, position 32472198, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Duchenne_muscular_dystrophy'] | TTAAGTTACAATTATTCATAGGTTTATTATTCATATATGTCTCTTTTTGGAGGATACCTTACTCAAGACTTTCTTCCTTACTCACAGAAAAAAAAAGATTCCTTGGTATCATATTTCTTTAAAATTGTCTCTGGTGTTTTTACAATGTTTGTGATTGTTTCCATCGATTTTTATGCTTCTCCACCTAAATTTTTATAACATTATTATTTTAAATATTTTCCAAAATTTGGGCTTCCCCACATTTTTTGAACATTTTATTGTATGTGGTTTTTATTTTGGTGTAACTTTGGGGGAAATGTTCATATCTTTTTTTTTAGTTA... | TTAAGTTACAATTATTCATAGGTTTATTATTCATATATGTCTCTTTTTGGAGGATACCTTACTCAAGACTTTCTTCCTTACTCACAGAAAAAAAAAGATTCCTTGGTATCATATTTCTTTAAAATTGTCTCTGGTGTTTTTACAATGTTTGTGATTGTTTCCATCGATTTTTATGCTTCTCCACCTAAATTTTTATAACATTATTATTTTAAATATTTTCCAAAATTTGGGCTTCCCCACATTTTTTGAACATTTTATTGTATGTGGTTTTTATTTTGGTGTAACTTTGGGGGAAATGTTCATATCTTTTTTTTTAGTTA... | pathogenic | 332,161 |
Does the chromosome X mutation at position 32472309 within gene DMD (dystrophin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Abnormality_of_the_musculature', 'Duchenne_muscular_dystrophy'] | TATTTCTTTAAAATTGTCTCTGGTGTTTTTACAATGTTTGTGATTGTTTCCATCGATTTTTATGCTTCTCCACCTAAATTTTTATAACATTATTATTTTAAATATTTTCCAAAATTTGGGCTTCCCCACATTTTTTGAACATTTTATTGTATGTGGTTTTTATTTTGGTGTAACTTTGGGGGAAATGTTCATATCTTTTTTTTTAGTTAGTTAATACATTTCCCAATAATATTTATGAACAATTATTTTCTTTCCTATCTTTTTCAGTGGAAATAGTCTCTTCTGCTCATCTAACTGCCTTTTCTTGTGTTTTCTCCACT... | TATTTCTTTAAAATTGTCTCTGGTGTTTTTACAATGTTTGTGATTGTTTCCATCGATTTTTATGCTTCTCCACCTAAATTTTTATAACATTATTATTTTAAATATTTTCCAAAATTTGGGCTTCCCCACATTTTTTGAACATTTTATTGTATGTGGTTTTTATTTTGGTGTAACTTTGGGGGAAATGTTCATATCTTTTTTTTTAGTTAGTTAATACATTTCCCAATAATATTTATGAACAATTATTTTCTTTCCTATCTTTTTCAGTGGAAATAGTCTCTTCTGCTCATCTAACTGCCTTTTCTTGTGTTTTCTCCACT... | pathogenic | 332,173 |
Clinical significance of chromosome X, position 32485083, gene DMD (dystrophin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Duchenne_muscular_dystrophy'] | ACTCCCTGGTGCCAGTTCGGATATAATGCATACACATGTGCAATTATTTGAATTAATTTCAAATTAACAAAATCAACTGCTATGTAATTTCATATGCTACATTTTTCATTCCATATATATATATATATATACACCATATTTAATTAAAGGGTTATTTATTAATCTAGACAAGCATTCCAAAAGGGTGAATAGTAAAATTAAAGATGTGTAGCTACAGTGGAAGTGGGGACAATTTGTTTACATATAATAGCAGTGAAAAAGTTAGGAAGTTTTATAAACAATCATCGTTTGTAGGTATGAAATTTAAAAAAGAGAAGAAA... | ACTCCCTGGTGCCAGTTCGGATATAATGCATACACATGTGCAATTATTTGAATTAATTTCAAATTAACAAAATCAACTGCTATGTAATTTCATATGCTACATTTTTCATTCCATATATATATATATATATACACCATATTTAATTAAAGGGTTATTTATTAATCTAGACAAGCATTCCAAAAGGGTGAATAGTAAAATTAAAGATGTGTAGCTACAGTGGAAGTGGGGACAATTTGTTTACATATAATAGCAGTGAAAAAGTTAGGAAGTTTTATAAACAATCATCGTTTGTAGGTATGAAATTTAAAAAAGAGAAGAAA... | pathogenic | 332,195 |
The mutation impacting DMD (dystrophin) on chromosome X at position 32491295: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | CACATGTTGAAGTCCTAACCATTGGTGAGACTATTTGGTGATAGGACTTTTAAGAGGTAATGATGTTTATATGACGTCATCAGGGTTGGGTAAGGGTGGCGGGGTGGGGGGCTAATCCCTTAGGGATTGGTGGCTTTATAAAAGGAGGCAGAGATAAAGAGAGAGAGAAAGAAAAATAGCCCTCATTCTCTCTCTCTGCATGTATACACACAGAGGAAAGCCATGTGAGGACAGAGTGAGAAGTTGGTTATCTGCAAGCCAGGAAGACAGCCTTCACCAGAAGATGAAGCTGAACCCTACCAAACCTTGATCCTGGACTT... | CACATGTTGAAGTCCTAACCATTGGTGAGACTATTTGGTGATAGGACTTTTAAGAGGTAATGATGTTTATATGACGTCATCAGGGTTGGGTAAGGGTGGCGGGGTGGGGGGCTAATCCCTTAGGGATTGGTGGCTTTATAAAAGGAGGCAGAGATAAAGAGAGAGAGAAAGAAAAATAGCCCTCATTCTCTCTCTCTGCATGTATACACACAGAGGAAAGCCATGTGAGGACAGAGTGAGAAGTTGGTTATCTGCAAGCCAGGAAGACAGCCTTCACCAGAAGATGAAGCTGAACCCTACCAAACCTTGATCCTGGACTT... | pathogenic | 332,208 |
Evaluate this variant at chromosome X, position 32491389, gene DMD (dystrophin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Duchenne_muscular_dystrophy'] | GGTGGCGGGGTGGGGGGCTAATCCCTTAGGGATTGGTGGCTTTATAAAAGGAGGCAGAGATAAAGAGAGAGAGAAAGAAAAATAGCCCTCATTCTCTCTCTCTGCATGTATACACACAGAGGAAAGCCATGTGAGGACAGAGTGAGAAGTTGGTTATCTGCAAGCCAGGAAGACAGCCTTCACCAGAAGATGAAGCTGAACCCTACCAAACCTTGATCCTGGACTTTCTCTCACTTCTAGAACTCTCAGAAAATAAACCTGTGTTGTTTAAGCCACCGAGTCTGTGGTATTTATTGTGGCAGACTCAGCTGATTAATACA... | GGTGGCGGGGTGGGGGGCTAATCCCTTAGGGATTGGTGGCTTTATAAAAGGAGGCAGAGATAAAGAGAGAGAGAAAGAAAAATAGCCCTCATTCTCTCTCTCTGCATGTATACACACAGAGGAAAGCCATGTGAGGACAGAGTGAGAAGTTGGTTATCTGCAAGCCAGGAAGACAGCCTTCACCAGAAGATGAAGCTGAACCCTACCAAACCTTGATCCTGGACTTTCTCTCACTTCTAGAACTCTCAGAAAATAAACCTGTGTTGTTTAAGCCACCGAGTCTGTGGTATTTATTGTGGCAGACTCAGCTGATTAATACA... | pathogenic | 332,221 |
Variant at chromosome position 32491432, chromosome X, gene DMD (dystrophin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Duchenne_muscular_dystrophy'] | ATAAAAGGAGGCAGAGATAAAGAGAGAGAGAAAGAAAAATAGCCCTCATTCTCTCTCTCTGCATGTATACACACAGAGGAAAGCCATGTGAGGACAGAGTGAGAAGTTGGTTATCTGCAAGCCAGGAAGACAGCCTTCACCAGAAGATGAAGCTGAACCCTACCAAACCTTGATCCTGGACTTTCTCTCACTTCTAGAACTCTCAGAAAATAAACCTGTGTTGTTTAAGCCACCGAGTCTGTGGTATTTATTGTGGCAGACTCAGCTGATTAATACACTCAGTAGCATTCTTAAACACATTAGAGACACTTAATGTATAT... | ATAAAAGGAGGCAGAGATAAAGAGAGAGAGAAAGAAAAATAGCCCTCATTCTCTCTCTCTGCATGTATACACACAGAGGAAAGCCATGTGAGGACAGAGTGAGAAGTTGGTTATCTGCAAGCCAGGAAGACAGCCTTCACCAGAAGATGAAGCTGAACCCTACCAAACCTTGATCCTGGACTTTCTCTCACTTCTAGAACTCTCAGAAAATAAACCTGTGTTGTTTAAGCCACCGAGTCTGTGGTATTTATTGTGGCAGACTCAGCTGATTAATACACTCAGTAGCATTCTTAAACACATTAGAGACACTTAATGTATAT... | pathogenic | 332,225 |
The mutation impacting DMD (dystrophin) on chromosome X at position 32491459: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Duchenne_muscular_dystrophy'] | GAGAAAGAAAAATAGCCCTCATTCTCTCTCTCTGCATGTATACACACAGAGGAAAGCCATGTGAGGACAGAGTGAGAAGTTGGTTATCTGCAAGCCAGGAAGACAGCCTTCACCAGAAGATGAAGCTGAACCCTACCAAACCTTGATCCTGGACTTTCTCTCACTTCTAGAACTCTCAGAAAATAAACCTGTGTTGTTTAAGCCACCGAGTCTGTGGTATTTATTGTGGCAGACTCAGCTGATTAATACACTCAGTAGCATTCTTAAACACATTAGAGACACTTAATGTATATATTTTATGCATGAATGTACTGTGTAGG... | GAGAAAGAAAAATAGCCCTCATTCTCTCTCTCTGCATGTATACACACAGAGGAAAGCCATGTGAGGACAGAGTGAGAAGTTGGTTATCTGCAAGCCAGGAAGACAGCCTTCACCAGAAGATGAAGCTGAACCCTACCAAACCTTGATCCTGGACTTTCTCTCACTTCTAGAACTCTCAGAAAATAAACCTGTGTTGTTTAAGCCACCGAGTCTGTGGTATTTATTGTGGCAGACTCAGCTGATTAATACACTCAGTAGCATTCTTAAACACATTAGAGACACTTAATGTATATATTTTATGCATGAATGTACTGTGTAGG... | pathogenic | 332,229 |
Regarding the variant at chromosome X and position 32501837, affecting gene DMD (dystrophin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Duchenne_muscular_dystrophy'] | CCTCTGAAATACACCTGAAGGGGTACTTCAGGCACTTAATATGTGTCTAGCTTATCTCACAATTTGCACAATCACAGAAAATAAATATTATGCAATTTGTTCCTTGAACGACAAAAACGGAACAAATAGATAAGTTAGAATATTTGAGCCTTTAAGTAATTTCATAAATTATTTTATTTAATGGGGAAACAGAGCTATGGTCATTTTAAGTAGTCATCCTAGTTATGGCCCAAACTTGAGCCTAATGACGTATCAGTTCGACCATATCTTTACTGGTAGAACAAAAGGGTAGCATAAAATTTGATTAACACAGTCAACCA... | CCTCTGAAATACACCTGAAGGGGTACTTCAGGCACTTAATATGTGTCTAGCTTATCTCACAATTTGCACAATCACAGAAAATAAATATTATGCAATTTGTTCCTTGAACGACAAAAACGGAACAAATAGATAAGTTAGAATATTTGAGCCTTTAAGTAATTTCATAAATTATTTTATTTAATGGGGAAACAGAGCTATGGTCATTTTAAGTAGTCATCCTAGTTATGGCCCAAACTTGAGCCTAATGACGTATCAGTTCGACCATATCTTTACTGGTAGAACAAAAGGGTAGCATAAAATTTGATTAACACAGTCAACCA... | pathogenic | 332,256 |
Clinically, how would you classify the variant at chromosome X, position 32518014, gene DMD (dystrophin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Becker_muscular_dystrophy', 'Cardiomyopathy', 'Duchenne_muscular_dystrophy', 'Dystrophin_deficiency', 'Qualitative_or_quantitative_defects_of_dystrophin'] | TTTAAAATATGTGAAATTGAACTGATAATGGCCTATGATATGCTAACTGGCTAAAAGCATTTGAAAGGAGTAAATGAAGAAATCAAGTGAAAAAAAAAAGAGTTGGTAATATTTAGCCATTTTTAATGAAAGCCTAAAAATGGATTAATACCACTCAAGTTCATGACACGAGCCTGCCATGAGTTTAAAATAACCTATATAAACCGACAGGTGATGTAGTAAGAAAATTAATGGATACCTAAACTGAATATCCATCATCGTAATTATGTATTTCTCTCAAGGATTTTTAATACATATACATTGTATTTAGCCTGAGGGAA... | TTTAAAATATGTGAAATTGAACTGATAATGGCCTATGATATGCTAACTGGCTAAAAGCATTTGAAAGGAGTAAATGAAGAAATCAAGTGAAAAAAAAAAGAGTTGGTAATATTTAGCCATTTTTAATGAAAGCCTAAAAATGGATTAATACCACTCAAGTTCATGACACGAGCCTGCCATGAGTTTAAAATAACCTATATAAACCGACAGGTGATGTAGTAAGAAAATTAATGGATACCTAAACTGAATATCCATCATCGTAATTATGTATTTCTCTCAAGGATTTTTAATACATATACATTGTATTTAGCCTGAGGGAA... | pathogenic | 332,260 |
Clinically, how would you classify the variant at chromosome X, position 32518104, gene DMD (dystrophin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Duchenne_muscular_dystrophy'] | AAAAAAAAAGAGTTGGTAATATTTAGCCATTTTTAATGAAAGCCTAAAAATGGATTAATACCACTCAAGTTCATGACACGAGCCTGCCATGAGTTTAAAATAACCTATATAAACCGACAGGTGATGTAGTAAGAAAATTAATGGATACCTAAACTGAATATCCATCATCGTAATTATGTATTTCTCTCAAGGATTTTTAATACATATACATTGTATTTAGCCTGAGGGAAACATCAAGGTAAATCATTTCATGTCCCATTTTAGTAGGCAATTAAGAATGATGTTGTTATTTCAGAAAATGAGAGTTCAGGTTGATAAAG... | AAAAAAAAAGAGTTGGTAATATTTAGCCATTTTTAATGAAAGCCTAAAAATGGATTAATACCACTCAAGTTCATGACACGAGCCTGCCATGAGTTTAAAATAACCTATATAAACCGACAGGTGATGTAGTAAGAAAATTAATGGATACCTAAACTGAATATCCATCATCGTAATTATGTATTTCTCTCAAGGATTTTTAATACATATACATTGTATTTAGCCTGAGGGAAACATCAAGGTAAATCATTTCATGTCCCATTTTAGTAGGCAATTAAGAATGATGTTGTTATTTCAGAAAATGAGAGTTCAGGTTGATAAAG... | pathogenic | 332,268 |
Evaluate if the mutation on chromosome X at position 32518148 in DMD (dystrophin) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TAAAAATGGATTAATACCACTCAAGTTCATGACACGAGCCTGCCATGAGTTTAAAATAACCTATATAAACCGACAGGTGATGTAGTAAGAAAATTAATGGATACCTAAACTGAATATCCATCATCGTAATTATGTATTTCTCTCAAGGATTTTTAATACATATACATTGTATTTAGCCTGAGGGAAACATCAAGGTAAATCATTTCATGTCCCATTTTAGTAGGCAATTAAGAATGATGTTGTTATTTCAGAAAATGAGAGTTCAGGTTGATAAAGGGGACTCACAAGGTATCAGAAAACCAGTTATAAAACACTGTACA... | TAAAAATGGATTAATACCACTCAAGTTCATGACACGAGCCTGCCATGAGTTTAAAATAACCTATATAAACCGACAGGTGATGTAGTAAGAAAATTAATGGATACCTAAACTGAATATCCATCATCGTAATTATGTATTTCTCTCAAGGATTTTTAATACATATACATTGTATTTAGCCTGAGGGAAACATCAAGGTAAATCATTTCATGTCCCATTTTAGTAGGCAATTAAGAATGATGTTGTTATTTCAGAAAATGAGAGTTCAGGTTGATAAAGGGGACTCACAAGGTATCAGAAAACCAGTTATAAAACACTGTACA... | benign | 332,271 |
Considering the variant on chromosome X, location 32545194, involving gene DMD (dystrophin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Duchenne_muscular_dystrophy'] | CACATAATAAATCCTCAATTTATGTTAGCTTTTATTTGAAGAATCTTTCTGTATGTGCCCAATGGGACTTCTCATTTAGGCACATACAAAAATTGCCGAAAACTTATGATACAAACAAATTTTGGAGAGAAGGTATTTCACCACTAGCCACTCTTTCCTGAAAACAAAAAGAAGTCAGAACACACTTTTTTTTTTTTTCCAACACAATCCATTCTCCAAACAGGAGCCAATAATAAGCTTTTGAAGACAGAGATTGACATGAATCAGCTTGCTCTGTTAATTTCTGTATTAGGCAAGTCCTGAAGACATTAAAAGTGTTA... | CACATAATAAATCCTCAATTTATGTTAGCTTTTATTTGAAGAATCTTTCTGTATGTGCCCAATGGGACTTCTCATTTAGGCACATACAAAAATTGCCGAAAACTTATGATACAAACAAATTTTGGAGAGAAGGTATTTCACCACTAGCCACTCTTTCCTGAAAACAAAAAGAAGTCAGAACACACTTTTTTTTTTTTTCCAACACAATCCATTCTCCAAACAGGAGCCAATAATAAGCTTTTGAAGACAGAGATTGACATGAATCAGCTTGCTCTGTTAATTTCTGTATTAGGCAAGTCCTGAAGACATTAAAAGTGTTA... | pathogenic | 332,278 |
Does the variant impacting DMD (dystrophin) on chromosome X, position 32545197, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Duchenne_muscular_dystrophy'] | ATAATAAATCCTCAATTTATGTTAGCTTTTATTTGAAGAATCTTTCTGTATGTGCCCAATGGGACTTCTCATTTAGGCACATACAAAAATTGCCGAAAACTTATGATACAAACAAATTTTGGAGAGAAGGTATTTCACCACTAGCCACTCTTTCCTGAAAACAAAAAGAAGTCAGAACACACTTTTTTTTTTTTTCCAACACAATCCATTCTCCAAACAGGAGCCAATAATAAGCTTTTGAAGACAGAGATTGACATGAATCAGCTTGCTCTGTTAATTTCTGTATTAGGCAAGTCCTGAAGACATTAAAAGTGTTAGGC... | ATAATAAATCCTCAATTTATGTTAGCTTTTATTTGAAGAATCTTTCTGTATGTGCCCAATGGGACTTCTCATTTAGGCACATACAAAAATTGCCGAAAACTTATGATACAAACAAATTTTGGAGAGAAGGTATTTCACCACTAGCCACTCTTTCCTGAAAACAAAAAGAAGTCAGAACACACTTTTTTTTTTTTTCCAACACAATCCATTCTCCAAACAGGAGCCAATAATAAGCTTTTGAAGACAGAGATTGACATGAATCAGCTTGCTCTGTTAATTTCTGTATTAGGCAAGTCCTGAAGACATTAAAAGTGTTAGGC... | pathogenic | 332,279 |
Is chromosome X, position 32545273, gene DMD (dystrophin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Duchenne_muscular_dystrophy'] | GCACATACAAAAATTGCCGAAAACTTATGATACAAACAAATTTTGGAGAGAAGGTATTTCACCACTAGCCACTCTTTCCTGAAAACAAAAAGAAGTCAGAACACACTTTTTTTTTTTTTCCAACACAATCCATTCTCCAAACAGGAGCCAATAATAAGCTTTTGAAGACAGAGATTGACATGAATCAGCTTGCTCTGTTAATTTCTGTATTAGGCAAGTCCTGAAGACATTAAAAGTGTTAGGCAACTAGGTGTCCCTATTACTCTGTTTGGAGAACTGTTGGAGGGTTGTTGGAATGTTGCAAAGTATCCATAAATCTG... | GCACATACAAAAATTGCCGAAAACTTATGATACAAACAAATTTTGGAGAGAAGGTATTTCACCACTAGCCACTCTTTCCTGAAAACAAAAAGAAGTCAGAACACACTTTTTTTTTTTTTCCAACACAATCCATTCTCCAAACAGGAGCCAATAATAAGCTTTTGAAGACAGAGATTGACATGAATCAGCTTGCTCTGTTAATTTCTGTATTAGGCAAGTCCTGAAGACATTAAAAGTGTTAGGCAACTAGGTGTCCCTATTACTCTGTTTGGAGAACTGTTGGAGGGTTGTTGGAATGTTGCAAAGTATCCATAAATCTG... | pathogenic | 332,286 |
Does the variant on chromosome X at location 32565714 affecting gene DMD (dystrophin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Duchenne_muscular_dystrophy'] | GCTTTTCTACCAATTGGAATAATCAAATCAGTAATATTTCGATGACATGTACAAACTTCATCAAAAAGTAGTCCCATTCCAAGGGAATGAGCATATTTATATAGTGTATTCCCAAGAAGCTCTCCCTTTTCACATTTCAGGGAGCATTGTGGAAAACCAGAATGTTGGGATTCACACACATATCACTGTCTATTTTCTTTAAACATTTATTTTAGGCTCAGGAGTACATATGAAGGTTTGTTACATAGGTAAATGTGTGTCACAGGGGTTTGCTTACCAATTATTTCATCACCCAGGTATTAAGCCCAGTATCCAATAGT... | GCTTTTCTACCAATTGGAATAATCAAATCAGTAATATTTCGATGACATGTACAAACTTCATCAAAAAGTAGTCCCATTCCAAGGGAATGAGCATATTTATATAGTGTATTCCCAAGAAGCTCTCCCTTTTCACATTTCAGGGAGCATTGTGGAAAACCAGAATGTTGGGATTCACACACATATCACTGTCTATTTTCTTTAAACATTTATTTTAGGCTCAGGAGTACATATGAAGGTTTGTTACATAGGTAAATGTGTGTCACAGGGGTTTGCTTACCAATTATTTCATCACCCAGGTATTAAGCCCAGTATCCAATAGT... | pathogenic | 332,296 |
Mutation at chromosome X, position 32565737, within DMD (dystrophin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Becker_muscular_dystrophy', 'Cardiomyopathy', 'Duchenne_muscular_dystrophy', 'Dystrophin_deficiency', 'Qualitative_or_quantitative_defects_of_dystrophin'] | CAAATCAGTAATATTTCGATGACATGTACAAACTTCATCAAAAAGTAGTCCCATTCCAAGGGAATGAGCATATTTATATAGTGTATTCCCAAGAAGCTCTCCCTTTTCACATTTCAGGGAGCATTGTGGAAAACCAGAATGTTGGGATTCACACACATATCACTGTCTATTTTCTTTAAACATTTATTTTAGGCTCAGGAGTACATATGAAGGTTTGTTACATAGGTAAATGTGTGTCACAGGGGTTTGCTTACCAATTATTTCATCACCCAGGTATTAAGCCCAGTATCCAATAGTCTTATTTACTGCTCATCTACTTC... | CAAATCAGTAATATTTCGATGACATGTACAAACTTCATCAAAAAGTAGTCCCATTCCAAGGGAATGAGCATATTTATATAGTGTATTCCCAAGAAGCTCTCCCTTTTCACATTTCAGGGAGCATTGTGGAAAACCAGAATGTTGGGATTCACACACATATCACTGTCTATTTTCTTTAAACATTTATTTTAGGCTCAGGAGTACATATGAAGGTTTGTTACATAGGTAAATGTGTGTCACAGGGGTTTGCTTACCAATTATTTCATCACCCAGGTATTAAGCCCAGTATCCAATAGTCTTATTTACTGCTCATCTACTTC... | pathogenic | 332,301 |
Is the genetic mutation found on chromosome X at position 32573607, within the gene DMD (dystrophin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | CTCAGAAGCATTTTGATTGCTTCTGAATCAATAACTAGTCATGAACCATTTTCTGAGATTCTAGTTGTGTAAACCAACTGATTAATGGAAAGGATTTTTAACTTGGATGTCTCAAAGACATTTTACACGGAATATATCCAAATCTGAAATAATTATCATTTTTGTCATTCCAGCAATTCCTCTTCTATTCTCCTGTTAGGGCTAATAACCCTCCTAGGAACCCAGTCACCCAAATGAAATGTCTAGGAACCATTTCAAACTTCTGCCTCTTATCACAAGTTTCATTCATCACATCTTAACATTCTAATGTTTCTCTTCTT... | CTCAGAAGCATTTTGATTGCTTCTGAATCAATAACTAGTCATGAACCATTTTCTGAGATTCTAGTTGTGTAAACCAACTGATTAATGGAAAGGATTTTTAACTTGGATGTCTCAAAGACATTTTACACGGAATATATCCAAATCTGAAATAATTATCATTTTTGTCATTCCAGCAATTCCTCTTCTATTCTCCTGTTAGGGCTAATAACCCTCCTAGGAACCCAGTCACCCAAATGAAATGTCTAGGAACCATTTCAAACTTCTGCCTCTTATCACAAGTTTCATTCATCACATCTTAACATTCTAATGTTTCTCTTCTT... | pathogenic | 332,326 |
Determine whether the variant at chromosome X, position 32573628, in gene DMD (dystrophin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Qualitative_or_quantitative_defects_of_dystrophin'] | TCTGAATCAATAACTAGTCATGAACCATTTTCTGAGATTCTAGTTGTGTAAACCAACTGATTAATGGAAAGGATTTTTAACTTGGATGTCTCAAAGACATTTTACACGGAATATATCCAAATCTGAAATAATTATCATTTTTGTCATTCCAGCAATTCCTCTTCTATTCTCCTGTTAGGGCTAATAACCCTCCTAGGAACCCAGTCACCCAAATGAAATGTCTAGGAACCATTTCAAACTTCTGCCTCTTATCACAAGTTTCATTCATCACATCTTAACATTCTAATGTTTCTCTTCTTATCTTAATGCCCAATGCTACT... | TCTGAATCAATAACTAGTCATGAACCATTTTCTGAGATTCTAGTTGTGTAAACCAACTGATTAATGGAAAGGATTTTTAACTTGGATGTCTCAAAGACATTTTACACGGAATATATCCAAATCTGAAATAATTATCATTTTTGTCATTCCAGCAATTCCTCTTCTATTCTCCTGTTAGGGCTAATAACCCTCCTAGGAACCCAGTCACCCAAATGAAATGTCTAGGAACCATTTCAAACTTCTGCCTCTTATCACAAGTTTCATTCATCACATCTTAACATTCTAATGTTTCTCTTCTTATCTTAATGCCCAATGCTACT... | pathogenic | 332,330 |
Variant on chromosome X, at position 32573633, affecting DMD (dystrophin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | ATCAATAACTAGTCATGAACCATTTTCTGAGATTCTAGTTGTGTAAACCAACTGATTAATGGAAAGGATTTTTAACTTGGATGTCTCAAAGACATTTTACACGGAATATATCCAAATCTGAAATAATTATCATTTTTGTCATTCCAGCAATTCCTCTTCTATTCTCCTGTTAGGGCTAATAACCCTCCTAGGAACCCAGTCACCCAAATGAAATGTCTAGGAACCATTTCAAACTTCTGCCTCTTATCACAAGTTTCATTCATCACATCTTAACATTCTAATGTTTCTCTTCTTATCTTAATGCCCAATGCTACTTAGTT... | ATCAATAACTAGTCATGAACCATTTTCTGAGATTCTAGTTGTGTAAACCAACTGATTAATGGAAAGGATTTTTAACTTGGATGTCTCAAAGACATTTTACACGGAATATATCCAAATCTGAAATAATTATCATTTTTGTCATTCCAGCAATTCCTCTTCTATTCTCCTGTTAGGGCTAATAACCCTCCTAGGAACCCAGTCACCCAAATGAAATGTCTAGGAACCATTTCAAACTTCTGCCTCTTATCACAAGTTTCATTCATCACATCTTAACATTCTAATGTTTCTCTTCTTATCTTAATGCCCAATGCTACTTAGTT... | pathogenic | 332,332 |
Variant in DMD (dystrophin), chromosome X, position 32573789—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic | TTCTATTCTCCTGTTAGGGCTAATAACCCTCCTAGGAACCCAGTCACCCAAATGAAATGTCTAGGAACCATTTCAAACTTCTGCCTCTTATCACAAGTTTCATTCATCACATCTTAACATTCTAATGTTTCTCTTCTTATCTTAATGCCCAATGCTACTTAGTTCAGGTCTTCTGATTAGTCCTCGTACCATCAAACATCTTCCTACCAAAAAGAATTACAAAAATGCAAATATGATTCTTTTGCAAACTCTCAATGGCTCCCCATCAGCTGCAGGCCAAAACTACAAATACAGCTGATATTTTTGCACTCGTGTTTTCA... | TTCTATTCTCCTGTTAGGGCTAATAACCCTCCTAGGAACCCAGTCACCCAAATGAAATGTCTAGGAACCATTTCAAACTTCTGCCTCTTATCACAAGTTTCATTCATCACATCTTAACATTCTAATGTTTCTCTTCTTATCTTAATGCCCAATGCTACTTAGTTCAGGTCTTCTGATTAGTCCTCGTACCATCAAACATCTTCCTACCAAAAAGAATTACAAAAATGCAAATATGATTCTTTTGCAAACTCTCAATGGCTCCCCATCAGCTGCAGGCCAAAACTACAAATACAGCTGATATTTTTGCACTCGTGTTTTCA... | pathogenic | 332,345 |
Classify the chromosome X variant at position 32595828 affecting gene DMD (dystrophin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Becker_muscular_dystrophy', 'Cardiomyopathy', 'Duchenne_muscular_dystrophy', 'Dystrophin_deficiency'] | TAGTTATAAAATTTAGTTTATAAAAATATTTCTCAATCAAATAAGTTAACTGGCATCACTGCCTATGAAACAGACTCTCTACGCACTGACATCCTGGAAGCCTCTAAAGTTAAGGACAAGACTCTAATCTGCAGTAACATTGCTGAGGGACAAGCTGAACCTTTGAGAGAAAGAATCTAATTATCGGAGAGCACACTTTTCAGAATATTACACTTCATAAGCTATGTCATCTTTCAGAAACTCTAAGCATATATTCTGACCTGTCTTTGGTTTTCTTCAAACCTTTTCCAAAGAAGACTCTAAAGGTATTTTAAAGTTAG... | TAGTTATAAAATTTAGTTTATAAAAATATTTCTCAATCAAATAAGTTAACTGGCATCACTGCCTATGAAACAGACTCTCTACGCACTGACATCCTGGAAGCCTCTAAAGTTAAGGACAAGACTCTAATCTGCAGTAACATTGCTGAGGGACAAGCTGAACCTTTGAGAGAAAGAATCTAATTATCGGAGAGCACACTTTTCAGAATATTACACTTCATAAGCTATGTCATCTTTCAGAAACTCTAAGCATATATTCTGACCTGTCTTTGGTTTTCTTCAAACCTTTTCCAAAGAAGACTCTAAAGGTATTTTAAAGTTAG... | pathogenic | 332,367 |
Is the chromosome X, position 32614385 variant in DMD (dystrophin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Duchenne_muscular_dystrophy'] | CCCTCCGGTAGAGAGAAGCCATTGCTGTACATCAACCTTGTCCAATCCATGACCCAGGATGGCTTTCAATGTGGCCCAACACAAATTTGTAAACTTTCTTAAAATATTTTTTCAATTATTTCTTTTAGTTCACCAGCTATCATTAGTGTTAGTATATTTTATGTGTGGCCCAAGACAATTCTTCCAATGTCGCCCAGGGAAGCCAACGGGTTGGACACCCCTGGTTTATATAGACACTTTCTGCATGTAACTTCCAGTGTAGGCCAAGGGAAAGAGGGCAGATATAGTGTCAACGAGAGAAGCAAATGTGCCACATCGGA... | CCCTCCGGTAGAGAGAAGCCATTGCTGTACATCAACCTTGTCCAATCCATGACCCAGGATGGCTTTCAATGTGGCCCAACACAAATTTGTAAACTTTCTTAAAATATTTTTTCAATTATTTCTTTTAGTTCACCAGCTATCATTAGTGTTAGTATATTTTATGTGTGGCCCAAGACAATTCTTCCAATGTCGCCCAGGGAAGCCAACGGGTTGGACACCCCTGGTTTATATAGACACTTTCTGCATGTAACTTCCAGTGTAGGCCAAGGGAAAGAGGGCAGATATAGTGTCAACGAGAGAAGCAAATGTGCCACATCGGA... | pathogenic | 332,388 |
Considering the genetic mutation at chromosome X, position 32614442, impacting DMD (dystrophin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Duchenne_muscular_dystrophy'] | GATGGCTTTCAATGTGGCCCAACACAAATTTGTAAACTTTCTTAAAATATTTTTTCAATTATTTCTTTTAGTTCACCAGCTATCATTAGTGTTAGTATATTTTATGTGTGGCCCAAGACAATTCTTCCAATGTCGCCCAGGGAAGCCAACGGGTTGGACACCCCTGGTTTATATAGACACTTTCTGCATGTAACTTCCAGTGTAGGCCAAGGGAAAGAGGGCAGATATAGTGTCAACGAGAGAAGCAAATGTGCCACATCGGAAAAGCGGTACGGTTAGAGAACTAGCACTGTACCTAACTTCTTCTTCAGGTGCTCAAT... | GATGGCTTTCAATGTGGCCCAACACAAATTTGTAAACTTTCTTAAAATATTTTTTCAATTATTTCTTTTAGTTCACCAGCTATCATTAGTGTTAGTATATTTTATGTGTGGCCCAAGACAATTCTTCCAATGTCGCCCAGGGAAGCCAACGGGTTGGACACCCCTGGTTTATATAGACACTTTCTGCATGTAACTTCCAGTGTAGGCCAAGGGAAAGAGGGCAGATATAGTGTCAACGAGAGAAGCAAATGTGCCACATCGGAAAAGCGGTACGGTTAGAGAACTAGCACTGTACCTAACTTCTTCTTCAGGTGCTCAAT... | pathogenic | 332,396 |
Variant chromosome X, position 32644139, gene DMD (dystrophin): benign or pathogenic? Disease(s)? | pathogenic; ['Duchenne_muscular_dystrophy'] | CAAAGCTTACATAATGGCTTATCACATTAGAATTTAATAGGTTTTATGCACGAACACATACATAGTCAAAGTGGCAAGGAAGACTGTTATTTATAAACTCTCATATTATTTCTGAATTTGTGTTGCTCAAATAATGCTTTGTATATTCATTTTTAAGGAATTTTCCAGAAAAGTCTATGTGATAGAAGTGGTTACATGTACGTGTCTCATTTTAAAAACTCTGTGAGATGTTTTAGCAAAAGCTATACCAGCTAGAAGGCTCTCCTTGCCTTCTTAATAATTATTCTAAAAGCTGTAACACGTACAAAAGCTCTTGAATC... | CAAAGCTTACATAATGGCTTATCACATTAGAATTTAATAGGTTTTATGCACGAACACATACATAGTCAAAGTGGCAAGGAAGACTGTTATTTATAAACTCTCATATTATTTCTGAATTTGTGTTGCTCAAATAATGCTTTGTATATTCATTTTTAAGGAATTTTCCAGAAAAGTCTATGTGATAGAAGTGGTTACATGTACGTGTCTCATTTTAAAAACTCTGTGAGATGTTTTAGCAAAAGCTATACCAGCTAGAAGGCTCTCCTTGCCTTCTTAATAATTATTCTAAAAGCTGTAACACGTACAAAAGCTCTTGAATC... | pathogenic | 332,405 |
Variant on chromosome X, at position 32644167, affecting DMD (dystrophin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | AGAATTTAATAGGTTTTATGCACGAACACATACATAGTCAAAGTGGCAAGGAAGACTGTTATTTATAAACTCTCATATTATTTCTGAATTTGTGTTGCTCAAATAATGCTTTGTATATTCATTTTTAAGGAATTTTCCAGAAAAGTCTATGTGATAGAAGTGGTTACATGTACGTGTCTCATTTTAAAAACTCTGTGAGATGTTTTAGCAAAAGCTATACCAGCTAGAAGGCTCTCCTTGCCTTCTTAATAATTATTCTAAAAGCTGTAACACGTACAAAAGCTCTTGAATCTTCCCTAAGGACAAACTAATTTTTTATG... | AGAATTTAATAGGTTTTATGCACGAACACATACATAGTCAAAGTGGCAAGGAAGACTGTTATTTATAAACTCTCATATTATTTCTGAATTTGTGTTGCTCAAATAATGCTTTGTATATTCATTTTTAAGGAATTTTCCAGAAAAGTCTATGTGATAGAAGTGGTTACATGTACGTGTCTCATTTTAAAAACTCTGTGAGATGTTTTAGCAAAAGCTATACCAGCTAGAAGGCTCTCCTTGCCTTCTTAATAATTATTCTAAAAGCTGTAACACGTACAAAAGCTCTTGAATCTTCCCTAAGGACAAACTAATTTTTTATG... | pathogenic | 332,409 |
A genetic variant on chromosome X, position 32644179, affects the gene DMD (dystrophin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Duchenne_muscular_dystrophy'] | GTTTTATGCACGAACACATACATAGTCAAAGTGGCAAGGAAGACTGTTATTTATAAACTCTCATATTATTTCTGAATTTGTGTTGCTCAAATAATGCTTTGTATATTCATTTTTAAGGAATTTTCCAGAAAAGTCTATGTGATAGAAGTGGTTACATGTACGTGTCTCATTTTAAAAACTCTGTGAGATGTTTTAGCAAAAGCTATACCAGCTAGAAGGCTCTCCTTGCCTTCTTAATAATTATTCTAAAAGCTGTAACACGTACAAAAGCTCTTGAATCTTCCCTAAGGACAAACTAATTTTTTATGTCAATCTCAGCT... | GTTTTATGCACGAACACATACATAGTCAAAGTGGCAAGGAAGACTGTTATTTATAAACTCTCATATTATTTCTGAATTTGTGTTGCTCAAATAATGCTTTGTATATTCATTTTTAAGGAATTTTCCAGAAAAGTCTATGTGATAGAAGTGGTTACATGTACGTGTCTCATTTTAAAAACTCTGTGAGATGTTTTAGCAAAAGCTATACCAGCTAGAAGGCTCTCCTTGCCTTCTTAATAATTATTCTAAAAGCTGTAACACGTACAAAAGCTCTTGAATCTTCCCTAAGGACAAACTAATTTTTTATGTCAATCTCAGCT... | pathogenic | 332,413 |
Variant in DMD (dystrophin), chromosome X, position 32644192—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic | ACACATACATAGTCAAAGTGGCAAGGAAGACTGTTATTTATAAACTCTCATATTATTTCTGAATTTGTGTTGCTCAAATAATGCTTTGTATATTCATTTTTAAGGAATTTTCCAGAAAAGTCTATGTGATAGAAGTGGTTACATGTACGTGTCTCATTTTAAAAACTCTGTGAGATGTTTTAGCAAAAGCTATACCAGCTAGAAGGCTCTCCTTGCCTTCTTAATAATTATTCTAAAAGCTGTAACACGTACAAAAGCTCTTGAATCTTCCCTAAGGACAAACTAATTTTTTATGTCAATCTCAGCTAGGTGGTAATACT... | ACACATACATAGTCAAAGTGGCAAGGAAGACTGTTATTTATAAACTCTCATATTATTTCTGAATTTGTGTTGCTCAAATAATGCTTTGTATATTCATTTTTAAGGAATTTTCCAGAAAAGTCTATGTGATAGAAGTGGTTACATGTACGTGTCTCATTTTAAAAACTCTGTGAGATGTTTTAGCAAAAGCTATACCAGCTAGAAGGCTCTCCTTGCCTTCTTAATAATTATTCTAAAAGCTGTAACACGTACAAAAGCTCTTGAATCTTCCCTAAGGACAAACTAATTTTTTATGTCAATCTCAGCTAGGTGGTAATACT... | pathogenic | 332,414 |
The genetic variant at chromosome X, position 32644226, affecting gene DMD (dystrophin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Duchenne_muscular_dystrophy'] | TATTTATAAACTCTCATATTATTTCTGAATTTGTGTTGCTCAAATAATGCTTTGTATATTCATTTTTAAGGAATTTTCCAGAAAAGTCTATGTGATAGAAGTGGTTACATGTACGTGTCTCATTTTAAAAACTCTGTGAGATGTTTTAGCAAAAGCTATACCAGCTAGAAGGCTCTCCTTGCCTTCTTAATAATTATTCTAAAAGCTGTAACACGTACAAAAGCTCTTGAATCTTCCCTAAGGACAAACTAATTTTTTATGTCAATCTCAGCTAGGTGGTAATACTGCCATTTTAGCATTTCCATTCTCTAGTGGGATGG... | TATTTATAAACTCTCATATTATTTCTGAATTTGTGTTGCTCAAATAATGCTTTGTATATTCATTTTTAAGGAATTTTCCAGAAAAGTCTATGTGATAGAAGTGGTTACATGTACGTGTCTCATTTTAAAAACTCTGTGAGATGTTTTAGCAAAAGCTATACCAGCTAGAAGGCTCTCCTTGCCTTCTTAATAATTATTCTAAAAGCTGTAACACGTACAAAAGCTCTTGAATCTTCCCTAAGGACAAACTAATTTTTTATGTCAATCTCAGCTAGGTGGTAATACTGCCATTTTAGCATTTCCATTCTCTAGTGGGATGG... | pathogenic | 332,419 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 32644983, gene DMD (dystrophin): what disease(s) if pathogenic? | pathogenic; ['Duchenne_muscular_dystrophy'] | TCACTGCAAATAGAAGTTCTAACCTGAAGAATGTTGGCATATGACCACAGAAGGCAGCTTATATCTTAATATCGATAATAGATGGAGTAAATTAGTGGACCTGGTAAACACTGGGGAGTGGGCAGACTCAACAGTTATAATATGATTATTGTACCTCTCACATCTAGGGGTAGTGACAATCATCACCACGATCACAGCAGGCGAATAATATCAATATGCATAGATTAGTATCTCCTGGCTTGGAATACATATATAGTTATGAAACCTCTATCTTACATGTACCTTATTTATTCTTTCAAAAGGCCTGAGCTTAAAAATGT... | TCACTGCAAATAGAAGTTCTAACCTGAAGAATGTTGGCATATGACCACAGAAGGCAGCTTATATCTTAATATCGATAATAGATGGAGTAAATTAGTGGACCTGGTAAACACTGGGGAGTGGGCAGACTCAACAGTTATAATATGATTATTGTACCTCTCACATCTAGGGGTAGTGACAATCATCACCACGATCACAGCAGGCGAATAATATCAATATGCATAGATTAGTATCTCCTGGCTTGGAATACATATATAGTTATGAAACCTCTATCTTACATGTACCTTATTTATTCTTTCAAAAGGCCTGAGCTTAAAAATGT... | pathogenic | 332,435 |
Variant at chromosome X, position 32644984, gene DMD (dystrophin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | CACTGCAAATAGAAGTTCTAACCTGAAGAATGTTGGCATATGACCACAGAAGGCAGCTTATATCTTAATATCGATAATAGATGGAGTAAATTAGTGGACCTGGTAAACACTGGGGAGTGGGCAGACTCAACAGTTATAATATGATTATTGTACCTCTCACATCTAGGGGTAGTGACAATCATCACCACGATCACAGCAGGCGAATAATATCAATATGCATAGATTAGTATCTCCTGGCTTGGAATACATATATAGTTATGAAACCTCTATCTTACATGTACCTTATTTATTCTTTCAAAAGGCCTGAGCTTAAAAATGTG... | CACTGCAAATAGAAGTTCTAACCTGAAGAATGTTGGCATATGACCACAGAAGGCAGCTTATATCTTAATATCGATAATAGATGGAGTAAATTAGTGGACCTGGTAAACACTGGGGAGTGGGCAGACTCAACAGTTATAATATGATTATTGTACCTCTCACATCTAGGGGTAGTGACAATCATCACCACGATCACAGCAGGCGAATAATATCAATATGCATAGATTAGTATCTCCTGGCTTGGAATACATATATAGTTATGAAACCTCTATCTTACATGTACCTTATTTATTCTTTCAAAAGGCCTGAGCTTAAAAATGTG... | pathogenic | 332,436 |
Variant on chromosome X, at position 32645141, affecting DMD (dystrophin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | CACATCTAGGGGTAGTGACAATCATCACCACGATCACAGCAGGCGAATAATATCAATATGCATAGATTAGTATCTCCTGGCTTGGAATACATATATAGTTATGAAACCTCTATCTTACATGTACCTTATTTATTCTTTCAAAAGGCCTGAGCTTAAAAATGTGTTTTTCCCCTCCATAATTTCACACTATAATTTAGTACTGGAATACCAATCCTTCTAGCATATCTAATGAGTTTCCTTGGTCCTTTTTTTTTTTTAACGCTTTTGAACTTCATAAATAATAGTTAAATAAACTTAAGGCATTTGGACAATTTTTTTCA... | CACATCTAGGGGTAGTGACAATCATCACCACGATCACAGCAGGCGAATAATATCAATATGCATAGATTAGTATCTCCTGGCTTGGAATACATATATAGTTATGAAACCTCTATCTTACATGTACCTTATTTATTCTTTCAAAAGGCCTGAGCTTAAAAATGTGTTTTTCCCCTCCATAATTTCACACTATAATTTAGTACTGGAATACCAATCCTTCTAGCATATCTAATGAGTTTCCTTGGTCCTTTTTTTTTTTTAACGCTTTTGAACTTCATAAATAATAGTTAAATAAACTTAAGGCATTTGGACAATTTTTTTCA... | pathogenic | 332,451 |
Does the genetic variant at chromosome X, position 32697819, impacting gene DMD (dystrophin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ATTATGTTGATAAAAGAACAAGTACAGAGATAAGAATGCCAAGATATTTCCCATGAGTTTCATAAGCTAAAGAAGTTGGAAGAACAGAAAGAGCCAGGTAATGAAAGACACAGAATAGTCAGAGAGGAAGAACCCGCTGAGTGTAGAGGCTGAGAAAAATGTTTCATCAGTGGTAGAAAGTTAGGAGAGCTGAATAAAAGCCATTTGTCTCTGTGATTAAGAATACTTATTTGTTGAATAAATAAATGAAGTTAAAGCAGAGTGATGTGTCTGGGGAGTGAGGGCATGCACGTGTTTTCCATAGGGGACAGTCACCCACA... | ATTATGTTGATAAAAGAACAAGTACAGAGATAAGAATGCCAAGATATTTCCCATGAGTTTCATAAGCTAAAGAAGTTGGAAGAACAGAAAGAGCCAGGTAATGAAAGACACAGAATAGTCAGAGAGGAAGAACCCGCTGAGTGTAGAGGCTGAGAAAAATGTTTCATCAGTGGTAGAAAGTTAGGAGAGCTGAATAAAAGCCATTTGTCTCTGTGATTAAGAATACTTATTTGTTGAATAAATAAATGAAGTTAAAGCAGAGTGATGTGTCTGGGGAGTGAGGGCATGCACGTGTTTTCCATAGGGGACAGTCACCCACA... | benign | 332,454 |
A mutation at chromosome position 32697972 on chromosome X in gene DMD (dystrophin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Duchenne_muscular_dystrophy'] | GAAAAATGTTTCATCAGTGGTAGAAAGTTAGGAGAGCTGAATAAAAGCCATTTGTCTCTGTGATTAAGAATACTTATTTGTTGAATAAATAAATGAAGTTAAAGCAGAGTGATGTGTCTGGGGAGTGAGGGCATGCACGTGTTTTCCATAGGGGACAGTCACCCACATGGCTCTCTCCTCTTATAGAGAACGTTATTTTTCTCTGTAGACCAGCAAGTAAACACTTTAATAAAGCTTTCTGATGGAATCAGATCCAGCCTGTCTTGAGTTCCTTTGAAGTAGAGCAGGTACAGCCTGTAGGGGCAGTGAAAGCTCAGTCC... | GAAAAATGTTTCATCAGTGGTAGAAAGTTAGGAGAGCTGAATAAAAGCCATTTGTCTCTGTGATTAAGAATACTTATTTGTTGAATAAATAAATGAAGTTAAAGCAGAGTGATGTGTCTGGGGAGTGAGGGCATGCACGTGTTTTCCATAGGGGACAGTCACCCACATGGCTCTCTCCTCTTATAGAGAACGTTATTTTTCTCTGTAGACCAGCAAGTAAACACTTTAATAAAGCTTTCTGATGGAATCAGATCCAGCCTGTCTTGAGTTCCTTTGAAGTAGAGCAGGTACAGCCTGTAGGGGCAGTGAAAGCTCAGTCC... | pathogenic | 332,468 |
Does the variant on chromosome X at location 32698015 affecting gene DMD (dystrophin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AAAGCCATTTGTCTCTGTGATTAAGAATACTTATTTGTTGAATAAATAAATGAAGTTAAAGCAGAGTGATGTGTCTGGGGAGTGAGGGCATGCACGTGTTTTCCATAGGGGACAGTCACCCACATGGCTCTCTCCTCTTATAGAGAACGTTATTTTTCTCTGTAGACCAGCAAGTAAACACTTTAATAAAGCTTTCTGATGGAATCAGATCCAGCCTGTCTTGAGTTCCTTTGAAGTAGAGCAGGTACAGCCTGTAGGGGCAGTGAAAGCTCAGTCCTTTTGACACTTTTGAAATAAATGTTCTTAGTGTGAATAATTAA... | AAAGCCATTTGTCTCTGTGATTAAGAATACTTATTTGTTGAATAAATAAATGAAGTTAAAGCAGAGTGATGTGTCTGGGGAGTGAGGGCATGCACGTGTTTTCCATAGGGGACAGTCACCCACATGGCTCTCTCCTCTTATAGAGAACGTTATTTTTCTCTGTAGACCAGCAAGTAAACACTTTAATAAAGCTTTCTGATGGAATCAGATCCAGCCTGTCTTGAGTTCCTTTGAAGTAGAGCAGGTACAGCCTGTAGGGGCAGTGAAAGCTCAGTCCTTTTGACACTTTTGAAATAAATGTTCTTAGTGTGAATAATTAA... | benign | 332,474 |
Does the genetic variant at chromosome X, position 32699210, impacting gene DMD (dystrophin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Becker_muscular_dystrophy', 'Duchenne_muscular_dystrophy'] | CACATTTCATTCCCACGCTGTAACATTTATAAGGCTATTTCTTGTATATTGGGTTCCATACAATATTGAAAGGGTGGAAAACTCCACTGAGTCTTCCTCATATAGAAAGTACTAAACATTGCCGAGAATATGACCTGGTTTCAGTGTGACTTTTTCTTATAAATACTACAGAGCCTGCTATACACAAGTTTAAATTAGCAAAATTAAAGGAGAGCATATGAAGAAGCTTGCAGTTATATTTTTCTTACATAGAATATATATTTTAGAATGAATAGATAAAATAATTCACTTAGAATGTATGTATTTCCTTTACGTAGATC... | CACATTTCATTCCCACGCTGTAACATTTATAAGGCTATTTCTTGTATATTGGGTTCCATACAATATTGAAAGGGTGGAAAACTCCACTGAGTCTTCCTCATATAGAAAGTACTAAACATTGCCGAGAATATGACCTGGTTTCAGTGTGACTTTTTCTTATAAATACTACAGAGCCTGCTATACACAAGTTTAAATTAGCAAAATTAAAGGAGAGCATATGAAGAAGCTTGCAGTTATATTTTTCTTACATAGAATATATATTTTAGAATGAATAGATAAAATAATTCACTTAGAATGTATGTATTTCCTTTACGTAGATC... | pathogenic | 332,487 |
Variant on chromosome X, at position 32699233, affecting DMD (dystrophin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | CATTTATAAGGCTATTTCTTGTATATTGGGTTCCATACAATATTGAAAGGGTGGAAAACTCCACTGAGTCTTCCTCATATAGAAAGTACTAAACATTGCCGAGAATATGACCTGGTTTCAGTGTGACTTTTTCTTATAAATACTACAGAGCCTGCTATACACAAGTTTAAATTAGCAAAATTAAAGGAGAGCATATGAAGAAGCTTGCAGTTATATTTTTCTTACATAGAATATATATTTTAGAATGAATAGATAAAATAATTCACTTAGAATGTATGTATTTCCTTTACGTAGATCCAGAAAAATCTCCCCAAATAGTG... | CATTTATAAGGCTATTTCTTGTATATTGGGTTCCATACAATATTGAAAGGGTGGAAAACTCCACTGAGTCTTCCTCATATAGAAAGTACTAAACATTGCCGAGAATATGACCTGGTTTCAGTGTGACTTTTTCTTATAAATACTACAGAGCCTGCTATACACAAGTTTAAATTAGCAAAATTAAAGGAGAGCATATGAAGAAGCTTGCAGTTATATTTTTCTTACATAGAATATATATTTTAGAATGAATAGATAAAATAATTCACTTAGAATGTATGTATTTCCTTTACGTAGATCCAGAAAAATCTCCCCAAATAGTG... | pathogenic | 332,489 |
A genetic variant at chromosome X, position 32699264, affecting gene DMD (dystrophin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Becker_muscular_dystrophy', 'Duchenne_muscular_dystrophy'] | TCCATACAATATTGAAAGGGTGGAAAACTCCACTGAGTCTTCCTCATATAGAAAGTACTAAACATTGCCGAGAATATGACCTGGTTTCAGTGTGACTTTTTCTTATAAATACTACAGAGCCTGCTATACACAAGTTTAAATTAGCAAAATTAAAGGAGAGCATATGAAGAAGCTTGCAGTTATATTTTTCTTACATAGAATATATATTTTAGAATGAATAGATAAAATAATTCACTTAGAATGTATGTATTTCCTTTACGTAGATCCAGAAAAATCTCCCCAAATAGTGTAATTAGCAATTTTCACAGATGTACCTACAC... | TCCATACAATATTGAAAGGGTGGAAAACTCCACTGAGTCTTCCTCATATAGAAAGTACTAAACATTGCCGAGAATATGACCTGGTTTCAGTGTGACTTTTTCTTATAAATACTACAGAGCCTGCTATACACAAGTTTAAATTAGCAAAATTAAAGGAGAGCATATGAAGAAGCTTGCAGTTATATTTTTCTTACATAGAATATATATTTTAGAATGAATAGATAAAATAATTCACTTAGAATGTATGTATTTCCTTTACGTAGATCCAGAAAAATCTCCCCAAATAGTGTAATTAGCAATTTTCACAGATGTACCTACAC... | pathogenic | 332,493 |
Chromosome X, position 32809514, gene DMD (dystrophin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Duchenne_muscular_dystrophy'] | GCCTGTATTTCATATTACATTTTGTTGATTTTAAATTGTTGAAGTTTGAGACAGTAAAATGGTGATCTTATAGGATATACAATGTACCTTTCTACATATACTTCCCACTTAGGAGAGCATATGGAGTTAGGTATACCAGGCTCTTTTAGCTATAAAATACACTATTCATGTACCTGCCTTTTTCTGATTACAGGCTCGTCAACCTACTTTTTAAAATTGTTTTTATTCATTTAAATTTTTTGTGGATATATACATAGGTGTATATATTTACCTATTTTCTGATTATGATGTGGATGCCCATTTAGGCACTCCTATTCTGT... | GCCTGTATTTCATATTACATTTTGTTGATTTTAAATTGTTGAAGTTTGAGACAGTAAAATGGTGATCTTATAGGATATACAATGTACCTTTCTACATATACTTCCCACTTAGGAGAGCATATGGAGTTAGGTATACCAGGCTCTTTTAGCTATAAAATACACTATTCATGTACCTGCCTTTTTCTGATTACAGGCTCGTCAACCTACTTTTTAAAATTGTTTTTATTCATTTAAATTTTTTGTGGATATATACATAGGTGTATATATTTACCTATTTTCTGATTATGATGTGGATGCCCATTTAGGCACTCCTATTCTGT... | pathogenic | 332,500 |
Regarding the variant at chromosome X and position 32809564, affecting gene DMD (dystrophin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Becker_muscular_dystrophy', 'Duchenne_muscular_dystrophy'] | ACAGTAAAATGGTGATCTTATAGGATATACAATGTACCTTTCTACATATACTTCCCACTTAGGAGAGCATATGGAGTTAGGTATACCAGGCTCTTTTAGCTATAAAATACACTATTCATGTACCTGCCTTTTTCTGATTACAGGCTCGTCAACCTACTTTTTAAAATTGTTTTTATTCATTTAAATTTTTTGTGGATATATACATAGGTGTATATATTTACCTATTTTCTGATTATGATGTGGATGCCCATTTAGGCACTCCTATTCTGTAAGTTCAAAGGAGCACTAGAGGTCAAAAGCCATTTTGTCACTTAATAAGA... | ACAGTAAAATGGTGATCTTATAGGATATACAATGTACCTTTCTACATATACTTCCCACTTAGGAGAGCATATGGAGTTAGGTATACCAGGCTCTTTTAGCTATAAAATACACTATTCATGTACCTGCCTTTTTCTGATTACAGGCTCGTCAACCTACTTTTTAAAATTGTTTTTATTCATTTAAATTTTTTGTGGATATATACATAGGTGTATATATTTACCTATTTTCTGATTATGATGTGGATGCCCATTTAGGCACTCCTATTCTGTAAGTTCAAAGGAGCACTAGAGGTCAAAAGCCATTTTGTCACTTAATAAGA... | pathogenic | 332,508 |
Regarding the variant found on chromosome X at position 32809594 in gene DMD (dystrophin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | AATGTACCTTTCTACATATACTTCCCACTTAGGAGAGCATATGGAGTTAGGTATACCAGGCTCTTTTAGCTATAAAATACACTATTCATGTACCTGCCTTTTTCTGATTACAGGCTCGTCAACCTACTTTTTAAAATTGTTTTTATTCATTTAAATTTTTTGTGGATATATACATAGGTGTATATATTTACCTATTTTCTGATTATGATGTGGATGCCCATTTAGGCACTCCTATTCTGTAAGTTCAAAGGAGCACTAGAGGTCAAAAGCCATTTTGTCACTTAATAAGAAAAATATCTATTTTTAAATCTTCTCTTACT... | AATGTACCTTTCTACATATACTTCCCACTTAGGAGAGCATATGGAGTTAGGTATACCAGGCTCTTTTAGCTATAAAATACACTATTCATGTACCTGCCTTTTTCTGATTACAGGCTCGTCAACCTACTTTTTAAAATTGTTTTTATTCATTTAAATTTTTTGTGGATATATACATAGGTGTATATATTTACCTATTTTCTGATTATGATGTGGATGCCCATTTAGGCACTCCTATTCTGTAAGTTCAAAGGAGCACTAGAGGTCAAAAGCCATTTTGTCACTTAATAAGAAAAATATCTATTTTTAAATCTTCTCTTACT... | pathogenic | 332,509 |
Does the chromosome X mutation at position 32809622 within gene DMD (dystrophin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TTAGGAGAGCATATGGAGTTAGGTATACCAGGCTCTTTTAGCTATAAAATACACTATTCATGTACCTGCCTTTTTCTGATTACAGGCTCGTCAACCTACTTTTTAAAATTGTTTTTATTCATTTAAATTTTTTGTGGATATATACATAGGTGTATATATTTACCTATTTTCTGATTATGATGTGGATGCCCATTTAGGCACTCCTATTCTGTAAGTTCAAAGGAGCACTAGAGGTCAAAAGCCATTTTGTCACTTAATAAGAAAAATATCTATTTTTAAATCTTCTCTTACTGTTTTATGAAAGGATAGGACACACACAA... | TTAGGAGAGCATATGGAGTTAGGTATACCAGGCTCTTTTAGCTATAAAATACACTATTCATGTACCTGCCTTTTTCTGATTACAGGCTCGTCAACCTACTTTTTAAAATTGTTTTTATTCATTTAAATTTTTTGTGGATATATACATAGGTGTATATATTTACCTATTTTCTGATTATGATGTGGATGCCCATTTAGGCACTCCTATTCTGTAAGTTCAAAGGAGCACTAGAGGTCAAAAGCCATTTTGTCACTTAATAAGAAAAATATCTATTTTTAAATCTTCTCTTACTGTTTTATGAAAGGATAGGACACACACAA... | benign | 332,511 |
Variant chromosome X, position 32816513, gene DMD (dystrophin): benign or pathogenic? Disease(s)? | pathogenic; ['Duchenne_muscular_dystrophy'] | AACGACAATCGCTATGGAACAGAGAGTTCAACCATTTTTTTCTTTAGATAAAGAATATGAACATCTGCCAAATACAAAAAGAAGGGGGAGATGATTCATGAAAGAACATTAAACAACTGTGAAGAACCTCTTGAAAAGTAACCATGTAATACATAAAGAGAGTTACTGATGATTCATCCAATATGACAGGAGAGAGTATATAAATGAGGATATTTTGACAGAGAAAGAGTGGGTCAGGGACAGATAAAACAGGGCAATTTGGGTATGTTTACTGTATTACCTACAAATGTATTCAGAAATCATTAAATAGAATATTAACA... | AACGACAATCGCTATGGAACAGAGAGTTCAACCATTTTTTTCTTTAGATAAAGAATATGAACATCTGCCAAATACAAAAAGAAGGGGGAGATGATTCATGAAAGAACATTAAACAACTGTGAAGAACCTCTTGAAAAGTAACCATGTAATACATAAAGAGAGTTACTGATGATTCATCCAATATGACAGGAGAGAGTATATAAATGAGGATATTTTGACAGAGAAAGAGTGGGTCAGGGACAGATAAAACAGGGCAATTTGGGTATGTTTACTGTATTACCTACAAATGTATTCAGAAATCATTAAATAGAATATTAACA... | pathogenic | 332,514 |
Variant on chromosome X, at position 32823295, affecting DMD (dystrophin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | GTCTACTCACTATTTGACTCTGAGCAAGAGCAATCTACAATTCAAGTTAAAATTCAAGCCGGGCGCAGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGGGGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGC... | GTCTACTCACTATTTGACTCTGAGCAAGAGCAATCTACAATTCAAGTTAAAATTCAAGCCGGGCGCAGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGGGGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGC... | pathogenic | 332,527 |
For chromosome X, position 32849828, gene DMD (dystrophin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TTGATATTTTTTTCTTTAATGCTATTACTAATTAGGTTCATTTTGTCTTAGCGTCTATGTATGTATATGCATAAATGCAAATCATGTGGATTTTTTAATTTTGCCGAAATTAGTGGTTTTTTCTTTATATCAAATGGGTAGTGTGCCAACATCATAAGTTTAGAGAAAGGCTTATCTCATATCTGAGTATAAACACCCAAATCATGCTTATGAATTACGAAAGGATCTGAAATTCATTATCTTAAACATTATGTATGAAATTTGTTAACCCTGACTAAATTGCTTTGGGTGATAGATGGATTGACTCAGTCAGGGAAATG... | TTGATATTTTTTTCTTTAATGCTATTACTAATTAGGTTCATTTTGTCTTAGCGTCTATGTATGTATATGCATAAATGCAAATCATGTGGATTTTTTAATTTTGCCGAAATTAGTGGTTTTTTCTTTATATCAAATGGGTAGTGTGCCAACATCATAAGTTTAGAGAAAGGCTTATCTCATATCTGAGTATAAACACCCAAATCATGCTTATGAATTACGAAAGGATCTGAAATTCATTATCTTAAACATTATGTATGAAATTTGTTAACCCTGACTAAATTGCTTTGGGTGATAGATGGATTGACTCAGTCAGGGAAATG... | benign | 332,552 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 32849828, gene DMD (dystrophin): what disease(s) if pathogenic? | benign | TTGATATTTTTTTCTTTAATGCTATTACTAATTAGGTTCATTTTGTCTTAGCGTCTATGTATGTATATGCATAAATGCAAATCATGTGGATTTTTTAATTTTGCCGAAATTAGTGGTTTTTTCTTTATATCAAATGGGTAGTGTGCCAACATCATAAGTTTAGAGAAAGGCTTATCTCATATCTGAGTATAAACACCCAAATCATGCTTATGAATTACGAAAGGATCTGAAATTCATTATCTTAAACATTATGTATGAAATTTGTTAACCCTGACTAAATTGCTTTGGGTGATAGATGGATTGACTCAGTCAGGGAAATG... | TTGATATTTTTTTCTTTAATGCTATTACTAATTAGGTTCATTTTGTCTTAGCGTCTATGTATGTATATGCATAAATGCAAATCATGTGGATTTTTTAATTTTGCCGAAATTAGTGGTTTTTTCTTTATATCAAATGGGTAGTGTGCCAACATCATAAGTTTAGAGAAAGGCTTATCTCATATCTGAGTATAAACACCCAAATCATGCTTATGAATTACGAAAGGATCTGAAATTCATTATCTTAAACATTATGTATGAAATTTGTTAACCCTGACTAAATTGCTTTGGGTGATAGATGGATTGACTCAGTCAGGGAAATG... | benign | 332,553 |
Is the genetic variant on chromosome X, position 33020187, gene DMD (dystrophin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Duchenne_muscular_dystrophy'] | TACCTTTAAATAAGTTTTCTCCTCTGTCTTTGTAAACTTTTATTTCTATTCCTGACACCTAGGATATGCTTGATAATAGAATTTCTGTACTTGAAAGAATGGTGACTCTCCTGATCAGTTATAACAGACTTAGGGAGAACATTTGTAATATAAATGAAAAGTGTGAGTTGAGTTAGAGGATGCAAATATTTTGGAAGAAAACAATAAATGTGCTCATATATGTGAATATTTTACAGTTTTAAGATATGGGCATTCATAAGGACAGAAAAAAATATACCGAATTGCTCTGAGGCAGTGCTAACAATATATAAATAGAGGAT... | TACCTTTAAATAAGTTTTCTCCTCTGTCTTTGTAAACTTTTATTTCTATTCCTGACACCTAGGATATGCTTGATAATAGAATTTCTGTACTTGAAAGAATGGTGACTCTCCTGATCAGTTATAACAGACTTAGGGAGAACATTTGTAATATAAATGAAAAGTGTGAGTTGAGTTAGAGGATGCAAATATTTTGGAAGAAAACAATAAATGTGCTCATATATGTGAATATTTTACAGTTTTAAGATATGGGCATTCATAAGGACAGAAAAAAATATACCGAATTGCTCTGAGGCAGTGCTAACAATATATAAATAGAGGAT... | pathogenic | 332,560 |
Regarding the variant found on chromosome X at position 33211298 in gene DMD (dystrophin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Becker_muscular_dystrophy'] | AAAAGCTTTGTATTAACAGTATATCATCAATTTAGATCAGCAATCTCTTTTTCGTAGTTAAGATGTCTTTAAAAGATTCTGCAGATGAAATTCTAAAAGGTGATTTTATTAGACCTCAGATGACTTACATCATTTAAATATATTCAAATGAAATGTCTATTTGCAGTACACTATTTGAATAATTCTTTACAATGCATTATTTGAGTAATTCTAAAAGTGAACAATACAATATGTTTGACAATACAGTGATCTCTTTTAAAGGGTAACTGTTTTGGTTAAAAAACAACAAAACGTACTTTTGTAAGTTTATCAAACTACGG... | AAAAGCTTTGTATTAACAGTATATCATCAATTTAGATCAGCAATCTCTTTTTCGTAGTTAAGATGTCTTTAAAAGATTCTGCAGATGAAATTCTAAAAGGTGATTTTATTAGACCTCAGATGACTTACATCATTTAAATATATTCAAATGAAATGTCTATTTGCAGTACACTATTTGAATAATTCTTTACAATGCATTATTTGAGTAATTCTAAAAGTGAACAATACAATATGTTTGACAATACAGTGATCTCTTTTAAAGGGTAACTGTTTTGGTTAAAAAACAACAAAACGTACTTTTGTAAGTTTATCAAACTACGG... | pathogenic | 332,569 |
Does the variant impacting DMD (dystrophin) on chromosome X, position 33211425, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CATCATTTAAATATATTCAAATGAAATGTCTATTTGCAGTACACTATTTGAATAATTCTTTACAATGCATTATTTGAGTAATTCTAAAAGTGAACAATACAATATGTTTGACAATACAGTGATCTCTTTTAAAGGGTAACTGTTTTGGTTAAAAAACAACAAAACGTACTTTTGTAAGTTTATCAAACTACGGCAAATTTACAAACTGGATTCAAATGTCAAACATCCAAGTAGCAGTATGTTGTCAAACAGCAAAATTTAATGTATAATATAGCCCTGAGTATATCTCCGTTTTTTCTTACCAAACTCATTGTCATGTT... | CATCATTTAAATATATTCAAATGAAATGTCTATTTGCAGTACACTATTTGAATAATTCTTTACAATGCATTATTTGAGTAATTCTAAAAGTGAACAATACAATATGTTTGACAATACAGTGATCTCTTTTAAAGGGTAACTGTTTTGGTTAAAAAACAACAAAACGTACTTTTGTAAGTTTATCAAACTACGGCAAATTTACAAACTGGATTCAAATGTCAAACATCCAAGTAGCAGTATGTTGTCAAACAGCAAAATTTAATGTATAATATAGCCCTGAGTATATCTCCGTTTTTTCTTACCAAACTCATTGTCATGTT... | benign | 332,572 |
Evaluate the clinical significance of the mutation at chromosome X, position 37727980 in gene XK (X-linked Kx blood group antigen, Kell and VPS13A binding protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic | TTTCCAGGAGCTGGAGACTAGGGAGGGATGAATAGGTGGAGAACAGAGGATTTTTACACAGTGAAACTACTCTGTATGATACTGTAATGGTGGCTACATGTCATTATACATTTGTCCAATGTGTAATGTCCAATGCACCCATAGGATGTACAATGCCAAGAGTGAGCCCTAATGTAAATGTAAACTTTGGATGATAATGATCTGTCAGTATAGGTTCATCAGTTGTAAAAAAATGTACCACTCTGGTGGGGGATGTTGATAATGGGGGTTGTTGATAATGCTTGTGTGGGGTCAGGGAATATATGGGAAATCTCTGTACC... | TTTCCAGGAGCTGGAGACTAGGGAGGGATGAATAGGTGGAGAACAGAGGATTTTTACACAGTGAAACTACTCTGTATGATACTGTAATGGTGGCTACATGTCATTATACATTTGTCCAATGTGTAATGTCCAATGCACCCATAGGATGTACAATGCCAAGAGTGAGCCCTAATGTAAATGTAAACTTTGGATGATAATGATCTGTCAGTATAGGTTCATCAGTTGTAAAAAAATGTACCACTCTGGTGGGGGATGTTGATAATGGGGGTTGTTGATAATGCTTGTGTGGGGTCAGGGAATATATGGGAAATCTCTGTACC... | pathogenic | 332,584 |
For chromosome X, position 37782119, gene CYBB (cytochrome b-245 beta chain): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Granulomatous_disease,_chronic,_X-linked'] | TGCCACCATGGGGAACTGGGCTGTGAATGAGGGGCTCTCCATTTTTGTCATTGTAAGTACCAACAAGAGATAAGTTATAAATTCTCTGACTTCTCGGGGTTATCTTGGAACTAAAATAGACCAAAGCTTTTTTGTTCATTTGAGGAATTGTGTTGAAACTGATTTACCATGTGAACCTATATCTATCTGTAAACAGACTGAGTCCATTCTTCCAAATTCCTTAATGGAAAGAACATATCTGGGGGCTCACTTCTAGCTTACTTCTGAATTCCTAGGAGGAATAAATTAGCCAGCATTTCGCAGAAGGAGTAGAAAATATT... | TGCCACCATGGGGAACTGGGCTGTGAATGAGGGGCTCTCCATTTTTGTCATTGTAAGTACCAACAAGAGATAAGTTATAAATTCTCTGACTTCTCGGGGTTATCTTGGAACTAAAATAGACCAAAGCTTTTTTGTTCATTTGAGGAATTGTGTTGAAACTGATTTACCATGTGAACCTATATCTATCTGTAAACAGACTGAGTCCATTCTTCCAAATTCCTTAATGGAAAGAACATATCTGGGGGCTCACTTCTAGCTTACTTCTGAATTCCTAGGAGGAATAAATTAGCCAGCATTTCGCAGAAGGAGTAGAAAATATT... | pathogenic | 332,590 |
Regarding the variant found on chromosome X at position 37796138 in gene CYBB (cytochrome b-245 beta chain): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Granulomatous_disease,_chronic,_X-linked'] | TGCCCACCAGTCAAAGAAAGCTGGGAACACATGTCTAGTCGAACAAGGTTTGGTTTATTACTTGCTACAGCAAAAGAAATCTCACACCTTGAGGAACTCTGGGCATCTCAAGGGGATGTAAAGTGGATTTAGAATTTAGGATTCTGTTAGATGGTTTGGGGGAGGATTTAAGAATGCAAGGATTTTCTCTGGATCAGTTATGGTCAGGAATTGGGGGTAGTTCTCAGATAAGGTATCTTAATTATTTTTTCTAGGAGGCAGAGGGAACAGAATAGGACTAAGTCTATAATAGGCAAAGAAGCAGTAGTCATTGTCTAGGC... | TGCCCACCAGTCAAAGAAAGCTGGGAACACATGTCTAGTCGAACAAGGTTTGGTTTATTACTTGCTACAGCAAAAGAAATCTCACACCTTGAGGAACTCTGGGCATCTCAAGGGGATGTAAAGTGGATTTAGAATTTAGGATTCTGTTAGATGGTTTGGGGGAGGATTTAAGAATGCAAGGATTTTCTCTGGATCAGTTATGGTCAGGAATTGGGGGTAGTTCTCAGATAAGGTATCTTAATTATTTTTTCTAGGAGGCAGAGGGAACAGAATAGGACTAAGTCTATAATAGGCAAAGAAGCAGTAGTCATTGTCTAGGC... | pathogenic | 332,613 |
Classify the chromosome X variant at position 37799016 affecting gene CYBB (cytochrome b-245 beta chain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Granulomatous_disease,_chronic,_X-linked'] | TTCATACCAAGTTTCCTTTTTTGTGCAGTTTCATACCACCTGCACACAAAGGCAGGCCTGGGGAAGTTCCCTGGTGGGTATAGGGCTCCAGGAAATTAGGGTTGGAGGAAGTAGAAGCTCAAGACTCACTCTGCCCAGAGCCCAGTTGGTGGCCAAGACATGACTGTGAAAAAGGGGAAGGGTGGGGAAAGCTGCATTGGGCACTGCATTCTTAAACTACTTGCTGACTGTGACCCCTGATAAACTCTTTGTAAGCATGGAGAAATCAATGGAGACCAAGAATCTGATGACTCTCTTAAAGCACTCAAATATCTTTAAAT... | TTCATACCAAGTTTCCTTTTTTGTGCAGTTTCATACCACCTGCACACAAAGGCAGGCCTGGGGAAGTTCCCTGGTGGGTATAGGGCTCCAGGAAATTAGGGTTGGAGGAAGTAGAAGCTCAAGACTCACTCTGCCCAGAGCCCAGTTGGTGGCCAAGACATGACTGTGAAAAAGGGGAAGGGTGGGGAAAGCTGCATTGGGCACTGCATTCTTAAACTACTTGCTGACTGTGACCCCTGATAAACTCTTTGTAAGCATGGAGAAATCAATGGAGACCAAGAATCTGATGACTCTCTTAAAGCACTCAAATATCTTTAAAT... | pathogenic | 332,615 |
Does the genetic variant at chromosome X, position 37803937, impacting gene CYBB (cytochrome b-245 beta chain), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Granulomatous_disease,_chronic,_X-linked'] | GTTAGTAAATAAGCTGCCTCTCAAATTTGCTCTCCTAATTCCAAGTCTAGAGTGGCTTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACCCTATCTTTCCTCATTTGCTGTCTATGGTGGGTCATAGTAAAGTTAGT... | GTTAGTAAATAAGCTGCCTCTCAAATTTGCTCTCCTAATTCCAAGTCTAGAGTGGCTTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACCCTATCTTTCCTCATTTGCTGTCTATGGTGGGTCATAGTAAAGTTAGT... | pathogenic | 332,622 |
Regarding the variant found on chromosome X at position 37804117 in gene CYBB (cytochrome b-245 beta chain): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Granulomatous_disease,_chronic,_X-linked'] | TTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACCCTATCTTTCCTCATTTGCTGTCTATGGTGGGTCATAGTAAAGTTAGTTCAGCTGGCTTTGGAAGTCTTGAAATATAGGAAACCACAACAGTTCTCCTTTTGTGATATTTATATTGCATTATAAGAACAATCCCACAGATCAGCAAAAACAGTTGCTGCAAAATTTCCCTTACTAGACTAGAGATGACTGAGTCAGACAAGTATTTTTCTTAAACATACCTTTAAGGA... | TTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACCCTATCTTTCCTCATTTGCTGTCTATGGTGGGTCATAGTAAAGTTAGTTCAGCTGGCTTTGGAAGTCTTGAAATATAGGAAACCACAACAGTTCTCCTTTTGTGATATTTATATTGCATTATAAGAACAATCCCACAGATCAGCAAAAACAGTTGCTGCAAAATTTCCCTTACTAGACTAGAGATGACTGAGTCAGACAAGTATTTTTCTTAAACATACCTTTAAGGA... | pathogenic | 332,626 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 37805087, gene CYBB (cytochrome b-245 beta chain): what disease(s) if pathogenic? | pathogenic; ['Granulomatous_disease,_chronic,_X-linked'] | ACGTAGACAGATGAGGATGGCAATGGGTGGGTAGAAAAGATGGTGTACTCCCCAGGTAGGGAGAAATGTAGAAATAACGCATGGAATCAGGCAGATTCAAGGTGTGATTCAGGACAAAGATAGACCAACTTAGTTAGTCTTGTTTTGGGGAATGTTGCTACATAACTAGTCAATGGGATCTCCTTCTTCTGGCCAGCTATTAGGTTGGTGCAAAAGTTATTGCGGTTTTTGCCATTAAAATATGGCAAAACTGCAATAATTTTTGCACCAACCTAATACTAAGGCCCTCTCTCATCCTCTTGGGGGATAGGAAGGCTGAG... | ACGTAGACAGATGAGGATGGCAATGGGTGGGTAGAAAAGATGGTGTACTCCCCAGGTAGGGAGAAATGTAGAAATAACGCATGGAATCAGGCAGATTCAAGGTGTGATTCAGGACAAAGATAGACCAACTTAGTTAGTCTTGTTTTGGGGAATGTTGCTACATAACTAGTCAATGGGATCTCCTTCTTCTGGCCAGCTATTAGGTTGGTGCAAAAGTTATTGCGGTTTTTGCCATTAAAATATGGCAAAACTGCAATAATTTTTGCACCAACCTAATACTAAGGCCCTCTCTCATCCTCTTGGGGGATAGGAAGGCTGAG... | pathogenic | 332,630 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 37810821, gene CYBB (cytochrome b-245 beta chain): what disease(s) if pathogenic? | pathogenic; ['Granulomatous_disease,_chronic,_X-linked'] | TGCACAGGTTTCTTTTTTAAATCAGTTATTTATTTGTATTGAAAAAGTAATTATTTTGCTTTGCAAAACTGATATCTATAGAATTATTAAATTGGAGTGCCCACCTTTCTTAACCTCCTCTATGACCATCATCCATCTAGTGAATTTCAAATCTGATTTGCTTTTTAAAAATAAATTTAATTAACCACTTTTATGAAAAATACCTGTTGCTCAAACTGAAGCCTCCTAGAATGGTAGCAGAAAAACAGTATGTGACTATATACACATATGTGCGTGCACACACACACATACACACACACTAGCTTTAGGCTTGATTTGAT... | TGCACAGGTTTCTTTTTTAAATCAGTTATTTATTTGTATTGAAAAAGTAATTATTTTGCTTTGCAAAACTGATATCTATAGAATTATTAAATTGGAGTGCCCACCTTTCTTAACCTCCTCTATGACCATCATCCATCTAGTGAATTTCAAATCTGATTTGCTTTTTAAAAATAAATTTAATTAACCACTTTTATGAAAAATACCTGTTGCTCAAACTGAAGCCTCCTAGAATGGTAGCAGAAAAACAGTATGTGACTATATACACATATGTGCGTGCACACACACACATACACACACACTAGCTTTAGGCTTGATTTGAT... | pathogenic | 332,636 |
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