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 |
|---|---|---|---|---|---|
Variant in PHEX, chromosome X, position 22245395—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic | AATACCATTCAGGACATAGGCATGGGCAAGGACTTTATGTCTAAAACACCAAAATCGATGGCAACAAAAGCCAAAATTGACAAATGGAATCTAATTAAGCTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTAGAGGATGGGAGAAACTTTTTGCAATCTACCCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGGACTTACACAAATTTACAAGAAAAAAACAACCCCATGAAAAAGTGAGTGAAGGGTATGAACAGACACTTCTTAAAAGAAGACATTTATGCAGCCAACAAA... | AATACCATTCAGGACATAGGCATGGGCAAGGACTTTATGTCTAAAACACCAAAATCGATGGCAACAAAAGCCAAAATTGACAAATGGAATCTAATTAAGCTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTAGAGGATGGGAGAAACTTTTTGCAATCTACCCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGGACTTACACAAATTTACAAGAAAAAAACAACCCCATGAAAAAGTGAGTGAAGGGTATGAACAGACACTTCTTAAAAGAAGACATTTATGCAGCCAACAAA... | pathogenic | 331,090 |
Regarding the variant found on chromosome X at position 22245408 in gene PHEX: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic | ACATAGGCATGGGCAAGGACTTTATGTCTAAAACACCAAAATCGATGGCAACAAAAGCCAAAATTGACAAATGGAATCTAATTAAGCTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTAGAGGATGGGAGAAACTTTTTGCAATCTACCCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGGACTTACACAAATTTACAAGAAAAAAACAACCCCATGAAAAAGTGAGTGAAGGGTATGAACAGACACTTCTTAAAAGAAGACATTTATGCAGCCAACAAACATATGAAAAATG... | ACATAGGCATGGGCAAGGACTTTATGTCTAAAACACCAAAATCGATGGCAACAAAAGCCAAAATTGACAAATGGAATCTAATTAAGCTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTAGAGGATGGGAGAAACTTTTTGCAATCTACCCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGGACTTACACAAATTTACAAGAAAAAAACAACCCCATGAAAAAGTGAGTGAAGGGTATGAACAGACACTTCTTAAAAGAAGACATTTATGCAGCCAACAAACATATGAAAAATG... | pathogenic | 331,092 |
Located at chromosome X position 22247872, the variant affecting gene PHEX—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic | AAAAATAGCCTTTATTGTCTTAGGAAAGGATGAGATTTGATGTACTCTGCCTTAAAACACCTAGCGCTCTGGTTTATTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTATGAATTGCAGTCTTATTTGT... | AAAAATAGCCTTTATTGTCTTAGGAAAGGATGAGATTTGATGTACTCTGCCTTAAAACACCTAGCGCTCTGGTTTATTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTATGAATTGCAGTCTTATTTGT... | pathogenic | 331,096 |
Variant in PHEX, chromosome X, position 22247892—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | TAGGAAAGGATGAGATTTGATGTACTCTGCCTTAAAACACCTAGCGCTCTGGTTTATTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTATGAATTGCAGTCTTATTTGTCAGAATGTATAAAACATTAA... | TAGGAAAGGATGAGATTTGATGTACTCTGCCTTAAAACACCTAGCGCTCTGGTTTATTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTATGAATTGCAGTCTTATTTGTCAGAATGTATAAAACATTAA... | pathogenic | 331,097 |
The chromosome X, position 24076756 genetic variant in gene EIF2S3 (eukaryotic translation initiation factor 2 subunit gamma): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['MEHMO_syndrome'] | ATGGACTCATGGAGTCCTATTTTATTCAACATGTTATGATCCATCACTGTCTTCCTTTATTTTGATGTGCATTGTTCGACGTTTGGCCAGTGGAGGTCCTTCAGGCTGGCTCTTGTGTCCTTTTGACATGTACTCATCATTTTTTTTTCTTCTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGTCGCCGGGGTAGAATGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACGCCACCACACCCGG... | ATGGACTCATGGAGTCCTATTTTATTCAACATGTTATGATCCATCACTGTCTTCCTTTATTTTGATGTGCATTGTTCGACGTTTGGCCAGTGGAGGTCCTTCAGGCTGGCTCTTGTGTCCTTTTGACATGTACTCATCATTTTTTTTTCTTCTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGTCGCCGGGGTAGAATGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACGCCACCACACCCGG... | pathogenic | 331,146 |
Regarding the variant found on chromosome X at position 24498808 in gene PDK3 (pyruvate dehydrogenase kinase 3): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CTCAAAATAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCGAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGTCTCAACCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCTGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACTGTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCC... | CTCAAAATAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCGAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGTCTCAACCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCTGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACTGTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCC... | benign | 331,152 |
Does the variant impacting PDK3 (pyruvate dehydrogenase kinase 3) on chromosome X, position 24498808, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTCAAAATAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCGAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGTCTCAACCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCTGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACTGTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCC... | CTCAAAATAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCGAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGTCTCAACCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCTGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACTGTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCC... | benign | 331,153 |
Is chromosome X, position 24732461, gene POLA1 (DNA polymerase alpha 1, catalytic subunit) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TTTTTATATTTTTAGTAGAGACGGAGTTTCCCCATGTTGGCCAGGCTAGTCCCAAACTCCTGACCTTAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCATGCCCAACCCCATTTTCTAATAAAAGGAAATTGGGCGCTCTGGAGTAATGGCAGATTCAGGGAAGGAAATGTCCAGGATAAGTCTGGAACATCTTATTATACCAGAAAGCAACGACAGTATTAAAATCTACTGAAGATATGTCAAAAGGACTCAGGAATCAACTTGAAGAGTCTTCTACTGAACAAAGATGGGACA... | TTTTTATATTTTTAGTAGAGACGGAGTTTCCCCATGTTGGCCAGGCTAGTCCCAAACTCCTGACCTTAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCATGCCCAACCCCATTTTCTAATAAAAGGAAATTGGGCGCTCTGGAGTAATGGCAGATTCAGGGAAGGAAATGTCCAGGATAAGTCTGGAACATCTTATTATACCAGAAAGCAACGACAGTATTAAAATCTACTGAAGATATGTCAAAAGGACTCAGGAATCAACTTGAAGAGTCTTCTACTGAACAAAGATGGGACA... | benign | 331,189 |
Does the variant on chromosome X at location 25004886 affecting gene ARX (aristaless related homeobox) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_1'] | CCCCGCGGGCGGGCTTCCACCAAGCGGTCACCCGGAGGGGCGCGGGCAGGGCCCGGGGGAGGGAGAAGCTGCGGTCCCCGCCGCGAGGAGGGAGGCGTGCGCCGAGGTGGTTAAGGATTGCAAATCTGTTTGGGTCTCCTCACGAAATCTGAGTTGTTTAGATTTTTTTAAATGTATACATTTACCAATGCCTGGATAAGTGATGTAATGACATTTGTCGAGTTAAGATCTGCCATTTGGATACCCCTCGCTGCCTTTCCATCACTACTGCTCCCGCATGTTTCTCTCTCTCTCCCTCCCTCTCTCTCTCTCTCACACAC... | CCCCGCGGGCGGGCTTCCACCAAGCGGTCACCCGGAGGGGCGCGGGCAGGGCCCGGGGGAGGGAGAAGCTGCGGTCCCCGCCGCGAGGAGGGAGGCGTGCGCCGAGGTGGTTAAGGATTGCAAATCTGTTTGGGTCTCCTCACGAAATCTGAGTTGTTTAGATTTTTTTAAATGTATACATTTACCAATGCCTGGATAAGTGATGTAATGACATTTGTCGAGTTAAGATCTGCCATTTGGATACCCCTCGCTGCCTTTCCATCACTACTGCTCCCGCATGTTTCTCTCTCTCTCCCTCCCTCTCTCTCTCTCTCACACAC... | pathogenic | 331,226 |
The chromosome X, position 25004887 genetic variant in gene ARX (aristaless related homeobox): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['X-linked_lissencephaly_with_abnormal_genitalia'] | CCCGCGGGCGGGCTTCCACCAAGCGGTCACCCGGAGGGGCGCGGGCAGGGCCCGGGGGAGGGAGAAGCTGCGGTCCCCGCCGCGAGGAGGGAGGCGTGCGCCGAGGTGGTTAAGGATTGCAAATCTGTTTGGGTCTCCTCACGAAATCTGAGTTGTTTAGATTTTTTTAAATGTATACATTTACCAATGCCTGGATAAGTGATGTAATGACATTTGTCGAGTTAAGATCTGCCATTTGGATACCCCTCGCTGCCTTTCCATCACTACTGCTCCCGCATGTTTCTCTCTCTCTCCCTCCCTCTCTCTCTCTCTCACACACA... | CCCGCGGGCGGGCTTCCACCAAGCGGTCACCCGGAGGGGCGCGGGCAGGGCCCGGGGGAGGGAGAAGCTGCGGTCCCCGCCGCGAGGAGGGAGGCGTGCGCCGAGGTGGTTAAGGATTGCAAATCTGTTTGGGTCTCCTCACGAAATCTGAGTTGTTTAGATTTTTTTAAATGTATACATTTACCAATGCCTGGATAAGTGATGTAATGACATTTGTCGAGTTAAGATCTGCCATTTGGATACCCCTCGCTGCCTTTCCATCACTACTGCTCCCGCATGTTTCTCTCTCTCTCCCTCCCTCTCTCTCTCTCTCACACACA... | pathogenic | 331,227 |
Variant on chromosome X, at position 25004887, affecting ARX (aristaless related homeobox): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_1', 'Intellectual_disability,_X-linked,_with_or_without_seizures,_ARX-related'] | CCCGCGGGCGGGCTTCCACCAAGCGGTCACCCGGAGGGGCGCGGGCAGGGCCCGGGGGAGGGAGAAGCTGCGGTCCCCGCCGCGAGGAGGGAGGCGTGCGCCGAGGTGGTTAAGGATTGCAAATCTGTTTGGGTCTCCTCACGAAATCTGAGTTGTTTAGATTTTTTTAAATGTATACATTTACCAATGCCTGGATAAGTGATGTAATGACATTTGTCGAGTTAAGATCTGCCATTTGGATACCCCTCGCTGCCTTTCCATCACTACTGCTCCCGCATGTTTCTCTCTCTCTCCCTCCCTCTCTCTCTCTCTCACACACA... | CCCGCGGGCGGGCTTCCACCAAGCGGTCACCCGGAGGGGCGCGGGCAGGGCCCGGGGGAGGGAGAAGCTGCGGTCCCCGCCGCGAGGAGGGAGGCGTGCGCCGAGGTGGTTAAGGATTGCAAATCTGTTTGGGTCTCCTCACGAAATCTGAGTTGTTTAGATTTTTTTAAATGTATACATTTACCAATGCCTGGATAAGTGATGTAATGACATTTGTCGAGTTAAGATCTGCCATTTGGATACCCCTCGCTGCCTTTCCATCACTACTGCTCCCGCATGTTTCTCTCTCTCTCCCTCCCTCTCTCTCTCTCTCACACACA... | pathogenic | 331,228 |
The mutation in gene ARX (aristaless related homeobox) at chromosome X, position 25007238—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CAAGCCCCACGGCCCAGTGGCGTGGATTCGGTGGTTTCGCTTAAACGGACGGTTTATTCCAAGGCCAGGGGCTGCAATGACACTATCTCCCAGGAGAGAATGCGGAAGGAGAAAAGGAGAGGAGAGCAAAAGAAGGGAAGGTGGAGGGTGGGAGGGGGGAGGAAAAAAAAGACGGAGAAGGTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTT... | CAAGCCCCACGGCCCAGTGGCGTGGATTCGGTGGTTTCGCTTAAACGGACGGTTTATTCCAAGGCCAGGGGCTGCAATGACACTATCTCCCAGGAGAGAATGCGGAAGGAGAAAAGGAGAGGAGAGCAAAAGAAGGGAAGGTGGAGGGTGGGAGGGGGGAGGAAAAAAAAGACGGAGAAGGTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTT... | benign | 331,231 |
Variant in gene ARX (aristaless related homeobox), located at chromosome X position 25007332: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['X-linked_lissencephaly_with_abnormal_genitalia'] | AGAGAATGCGGAAGGAGAAAAGGAGAGGAGAGCAAAAGAAGGGAAGGTGGAGGGTGGGAGGGGGGAGGAAAAAAAAGACGGAGAAGGTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTTCCGCGCGGGACTCAGCTACCCGCGTCTGGCCAGCGCCTGCGGGTGAGAGTGAAGGGCGACCGCCTGTTGATTTCGGCTCCACGGGCGGGTGTCA... | AGAGAATGCGGAAGGAGAAAAGGAGAGGAGAGCAAAAGAAGGGAAGGTGGAGGGTGGGAGGGGGGAGGAAAAAAAAGACGGAGAAGGTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTTCCGCGCGGGACTCAGCTACCCGCGTCTGGCCAGCGCCTGCGGGTGAGAGTGAAGGGCGACCGCCTGTTGATTTCGGCTCCACGGGCGGGTGTCA... | pathogenic | 331,240 |
The mutation in gene ARX (aristaless related homeobox) at chromosome X, position 25007371—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_1', 'Intellectual_disability,_X-linked,_with_or_without_seizures,_ARX-related', 'X-linked_lissencephaly_with_abnormal_genitalia'] | AGGGAAGGTGGAGGGTGGGAGGGGGGAGGAAAAAAAAGACGGAGAAGGTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTTCCGCGCGGGACTCAGCTACCCGCGTCTGGCCAGCGCCTGCGGGTGAGAGTGAAGGGCGACCGCCTGTTGATTTCGGCTCCACGGGCGGGTGTCACCTGCCAGCAGCCCCACATCCTGGCGCGGCGACCCCAGC... | AGGGAAGGTGGAGGGTGGGAGGGGGGAGGAAAAAAAAGACGGAGAAGGTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTTCCGCGCGGGACTCAGCTACCCGCGTCTGGCCAGCGCCTGCGGGTGAGAGTGAAGGGCGACCGCCTGTTGATTTCGGCTCCACGGGCGGGTGTCACCTGCCAGCAGCCCCACATCCTGGCGCGGCGACCCCAGC... | pathogenic | 331,241 |
Chromosome X, position 25013529, gene ARX: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GCTCAGTTTCTTCTTTGGAAATACACACGTACGATAAACGCAAAACGCTGGTCGGCCAATTCGCTATTTGACAGCACACATAGGTTTTCAAACTTATTTCCTTTTTTAAAGATAAGGAAAGGACTGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAG... | GCTCAGTTTCTTCTTTGGAAATACACACGTACGATAAACGCAAAACGCTGGTCGGCCAATTCGCTATTTGACAGCACACATAGGTTTTCAAACTTATTTCCTTTTTTAAAGATAAGGAAAGGACTGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAG... | benign | 331,271 |
Does the variant impacting ARX on chromosome X, position 25013530, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Corpus_callosum_agenesis-abnormal_genitalia_syndrome', 'Developmental_and_epileptic_encephalopathy,_1', 'Intellectual_disability,_X-linked,_with_or_without_seizures,_ARX-related', 'Partington_syndrome', 'X-linked_lissencephaly_with_abnormal_genitalia'] | CTCAGTTTCTTCTTTGGAAATACACACGTACGATAAACGCAAAACGCTGGTCGGCCAATTCGCTATTTGACAGCACACATAGGTTTTCAAACTTATTTCCTTTTTTAAAGATAAGGAAAGGACTGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGC... | CTCAGTTTCTTCTTTGGAAATACACACGTACGATAAACGCAAAACGCTGGTCGGCCAATTCGCTATTTGACAGCACACATAGGTTTTCAAACTTATTTCCTTTTTTAAAGATAAGGAAAGGACTGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGC... | pathogenic | 331,272 |
Is the genetic mutation found on chromosome X at position 25013530, within the gene ARX, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTCAGTTTCTTCTTTGGAAATACACACGTACGATAAACGCAAAACGCTGGTCGGCCAATTCGCTATTTGACAGCACACATAGGTTTTCAAACTTATTTCCTTTTTTAAAGATAAGGAAAGGACTGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGC... | CTCAGTTTCTTCTTTGGAAATACACACGTACGATAAACGCAAAACGCTGGTCGGCCAATTCGCTATTTGACAGCACACATAGGTTTTCAAACTTATTTCCTTTTTTAAAGATAAGGAAAGGACTGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGC... | benign | 331,273 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 25013539, gene ARX. What disease(s) is it linked to if pathogenic? | benign | TTCTTTGGAAATACACACGTACGATAAACGCAAAACGCTGGTCGGCCAATTCGCTATTTGACAGCACACATAGGTTTTCAAACTTATTTCCTTTTTTAAAGATAAGGAAAGGACTGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTT... | TTCTTTGGAAATACACACGTACGATAAACGCAAAACGCTGGTCGGCCAATTCGCTATTTGACAGCACACATAGGTTTTCAAACTTATTTCCTTTTTTAAAGATAAGGAAAGGACTGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTT... | benign | 331,275 |
For chromosome X, position 25013543, gene ARX: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TTGGAAATACACACGTACGATAAACGCAAAACGCTGGTCGGCCAATTCGCTATTTGACAGCACACATAGGTTTTCAAACTTATTTCCTTTTTTAAAGATAAGGAAAGGACTGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAA... | TTGGAAATACACACGTACGATAAACGCAAAACGCTGGTCGGCCAATTCGCTATTTGACAGCACACATAGGTTTTCAAACTTATTTCCTTTTTTAAAGATAAGGAAAGGACTGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAA... | benign | 331,277 |
Evaluate if the mutation on chromosome X at position 25013545 in ARX is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_1', 'Inborn_genetic_diseases', 'Intellectual_disability,_X-linked,_with_or_without_seizures,_ARX-related'] | GGAAATACACACGTACGATAAACGCAAAACGCTGGTCGGCCAATTCGCTATTTGACAGCACACATAGGTTTTCAAACTTATTTCCTTTTTTAAAGATAAGGAAAGGACTGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAA... | GGAAATACACACGTACGATAAACGCAAAACGCTGGTCGGCCAATTCGCTATTTGACAGCACACATAGGTTTTCAAACTTATTTCCTTTTTTAAAGATAAGGAAAGGACTGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAA... | pathogenic | 331,278 |
Benign or pathogenic: chromosome X, position 25013603, gene ARX variant? Disease(s) if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_1', 'Inborn_genetic_diseases', 'Intellectual_disability,_X-linked,_with_or_without_seizures,_ARX-related'] | CACACATAGGTTTTCAAACTTATTTCCTTTTTTAAAGATAAGGAAAGGACTGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAATGCACATTGAAAAGCTGCGCACGTCTCCTTCGAAGGAACTGCCCGCGCTTGACAAGCC... | CACACATAGGTTTTCAAACTTATTTCCTTTTTTAAAGATAAGGAAAGGACTGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAATGCACATTGAAAAGCTGCGCACGTCTCCTTCGAAGGAACTGCCCGCGCTTGACAAGCC... | pathogenic | 331,280 |
A genetic alteration at chromosome X, position 25013653, in gene ARX—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_1', 'Intellectual_disability,_X-linked,_with_or_without_seizures,_ARX-related'] | TGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAATGCACATTGAAAAGCTGCGCACGTCTCCTTCGAAGGAACTGCCCGCGCTTGACAAGCCCCGCGCTAGGCAGTCACCGATCCCTTTCTCCCCCTCACTGGGGGACGTTT... | TGGGTGACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAATGCACATTGAAAAGCTGCGCACGTCTCCTTCGAAGGAACTGCCCGCGCTTGACAAGCCCCGCGCTAGGCAGTCACCGATCCCTTTCTCCCCCTCACTGGGGGACGTTT... | pathogenic | 331,281 |
Gene ARX variant at chromosome position 25013659 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Corpus_callosum_agenesis-abnormal_genitalia_syndrome', 'Developmental_and_epileptic_encephalopathy,_1', 'Inborn_genetic_diseases', 'Intellectual_disability,_X-linked,_with_or_without_seizures,_ARX-related', 'Partington_syndrome', 'West_syndrome', 'X-linked_lissencephaly_with_abnormal_genitalia'] | ACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAATGCACATTGAAAAGCTGCGCACGTCTCCTTCGAAGGAACTGCCCGCGCTTGACAAGCCCCGCGCTAGGCAGTCACCGATCCCTTTCTCCCCCTCACTGGGGGACGTTTGCCCTA... | ACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAATGCACATTGAAAAGCTGCGCACGTCTCCTTCGAAGGAACTGCCCGCGCTTGACAAGCCCCGCGCTAGGCAGTCACCGATCCCTTTCTCCCCCTCACTGGGGGACGTTTGCCCTA... | pathogenic | 331,282 |
A genetic variant on chromosome X, position 25013659, affects the gene ARX. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_1', 'Intellectual_disability,_X-linked,_with_or_without_seizures,_ARX-related', 'X-linked_lissencephaly_with_abnormal_genitalia'] | ACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAATGCACATTGAAAAGCTGCGCACGTCTCCTTCGAAGGAACTGCCCGCGCTTGACAAGCCCCGCGCTAGGCAGTCACCGATCCCTTTCTCCCCCTCACTGGGGGACGTTTGCCCTA... | ACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAATGCACATTGAAAAGCTGCGCACGTCTCCTTCGAAGGAACTGCCCGCGCTTGACAAGCCCCGCGCTAGGCAGTCACCGATCCCTTTCTCCCCCTCACTGGGGGACGTTTGCCCTA... | pathogenic | 331,283 |
Is the chromosome X, position 25013659 variant in ARX clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | ACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAATGCACATTGAAAAGCTGCGCACGTCTCCTTCGAAGGAACTGCCCGCGCTTGACAAGCCCCGCGCTAGGCAGTCACCGATCCCTTTCTCCCCCTCACTGGGGGACGTTTGCCCTA... | ACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAATGCACATTGAAAAGCTGCGCACGTCTCCTTCGAAGGAACTGCCCGCGCTTGACAAGCCCCGCGCTAGGCAGTCACCGATCCCTTTCTCCCCCTCACTGGGGGACGTTTGCCCTA... | benign | 331,284 |
Is the genetic mutation found on chromosome X at position 25013659, within the gene ARX, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAATGCACATTGAAAAGCTGCGCACGTCTCCTTCGAAGGAACTGCCCGCGCTTGACAAGCCCCGCGCTAGGCAGTCACCGATCCCTTTCTCCCCCTCACTGGGGGACGTTTGCCCTA... | ACACAGGGGAAGACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAATGCACATTGAAAAGCTGCGCACGTCTCCTTCGAAGGAACTGCCCGCGCTTGACAAGCCCCGCGCTAGGCAGTCACCGATCCCTTTCTCCCCCTCACTGGGGGACGTTTGCCCTA... | benign | 331,285 |
Variant in gene ARX, located at chromosome X position 25013671: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_1', 'Intellectual_disability,_X-linked,_with_or_without_seizures,_ARX-related'] | ACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAATGCACATTGAAAAGCTGCGCACGTCTCCTTCGAAGGAACTGCCCGCGCTTGACAAGCCCCGCGCTAGGCAGTCACCGATCCCTTTCTCCCCCTCACTGGGGGACGTTTGCCCTAAGACTGGCTCCT... | ACCAAGTGTAGCCCAAGGGATGACCAGGTTTAAGTGCCTTTGCCTGGCATTAAGTCTGCTCTTTTCTGTTTCTGGTTGGGAGAGAGTTAGGCAATTGCCAGGCCAACTACATTTTGGAGTAGCTCGGCCTCCCGAGCCCTAAGCAGCGATTTCTCCTCTGGTTCAAAGGGGCGGGCAGCATTCCCCTTCTAAAATGCACATTGAAAAGCTGCGCACGTCTCCTTCGAAGGAACTGCCCGCGCTTGACAAGCCCCGCGCTAGGCAGTCACCGATCCCTTTCTCCCCCTCACTGGGGGACGTTTGCCCTAAGACTGGCTCCT... | pathogenic | 331,286 |
Is the genetic change at chromosome X, position 29954510, within gene IL1RAPL1 (interleukin 1 receptor accessory protein like 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGCTAGAAACTAATGACCAATATTGTAAAGAAAGTTTAATATCTCATAGGTAATGCATGTGAATAGTTAATGAATATTTTAATTAATTATTAACCGATATTATGTACTGACTTTATTGTGTGCTTTCATGATTTCTTACTCAACTAAAGTGTTTACATCAATGAGTGGTACAATTATAGATTGTACTGGCCTATGGGCATATAGCTTTTCTATAGCAAATATAATAATTATTTTTGGAGAAAACTAGATTTTGTTTTTTAAAATGTACAACTATATGCTGGCTAAAGAATAAAGGAAATGCCAAAATATGACACATTTGG... | GGCTAGAAACTAATGACCAATATTGTAAAGAAAGTTTAATATCTCATAGGTAATGCATGTGAATAGTTAATGAATATTTTAATTAATTATTAACCGATATTATGTACTGACTTTATTGTGTGCTTTCATGATTTCTTACTCAACTAAAGTGTTTACATCAATGAGTGGTACAATTATAGATTGTACTGGCCTATGGGCATATAGCTTTTCTATAGCAAATATAATAATTATTTTTGGAGAAAACTAGATTTTGTTTTTTAAAATGTACAACTATATGCTGGCTAAAGAATAAAGGAAATGCCAAAATATGACACATTTGG... | benign | 331,325 |
Determine whether the variant at chromosome X, position 30308175, in gene NR0B1 (nuclear receptor subfamily 0 group B member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['46,XY_sex_reversal_2', 'Congenital_adrenal_hypoplasia,_X-linked'] | ATCGATGAAAGTAGGAAGAGGCTTGCATGAAACTCCACCAGAAATCTGAAGCTTCTCTAGGTCTAGATTCATGGCTTGTGAAAACTTCATCTTGTGTATGCCACATTACTTTTCTCTGTGTTCACAATATACCCCTCCACCTTCTCCCCACCCAAGTGGTTCCCCCCCACACAGAGACACACAAACTGGCCTTCAAAATAAGGTCAGGGAAGAGAAAATGCAAATGGACTCCACAGTTTTATATCTCCTTAAGTTTGAACCTATATATATAATGTATTTAAATTTATATATGGGACATACAAAGGATAAACAGCAAAGAG... | ATCGATGAAAGTAGGAAGAGGCTTGCATGAAACTCCACCAGAAATCTGAAGCTTCTCTAGGTCTAGATTCATGGCTTGTGAAAACTTCATCTTGTGTATGCCACATTACTTTTCTCTGTGTTCACAATATACCCCTCCACCTTCTCCCCACCCAAGTGGTTCCCCCCCACACAGAGACACACAAACTGGCCTTCAAAATAAGGTCAGGGAAGAGAAAATGCAAATGGACTCCACAGTTTTATATCTCCTTAAGTTTGAACCTATATATATAATGTATTTAAATTTATATATGGGACATACAAAGGATAAACAGCAAAGAG... | pathogenic | 331,342 |
Chromosome X, position 30308377, gene NR0B1 (nuclear receptor subfamily 0 group B member 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['46,XY_sex_reversal_2', 'Congenital_adrenal_hypoplasia,_X-linked'] | GTCAGGGAAGAGAAAATGCAAATGGACTCCACAGTTTTATATCTCCTTAAGTTTGAACCTATATATATAATGTATTTAAATTTATATATGGGACATACAAAGGATAAACAGCAAAGAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACATTTGTGTTTCAAACACACTCAGCTTAGCTGGTTAAACTCATATTGAGAGAGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACT... | GTCAGGGAAGAGAAAATGCAAATGGACTCCACAGTTTTATATCTCCTTAAGTTTGAACCTATATATATAATGTATTTAAATTTATATATGGGACATACAAAGGATAAACAGCAAAGAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACATTTGTGTTTCAAACACACTCAGCTTAGCTGGTTAAACTCATATTGAGAGAGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACT... | pathogenic | 331,346 |
Variant at chromosome X, position 30308811, gene NR0B1 (nuclear receptor subfamily 0 group B member 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Congenital_adrenal_hypoplasia,_X-linked'] | AGAAGACTGTTTTCCAAATAATCTTAAGAATCATCTGCGACACTTATTATGAATGCAGATTTGCAGACCCTGGGCCAGAGCTACTGAATCAGAATATATAAGGCAGGAGCCTAGAAAGACTTTTATCTACTCCCTCCCACCCCCAACCACACACACACAAGTACTTCTTATGCACAGGCAAGTTTGGAAAACAATGGTATAAGCAAAAAGGTAACATATAATAGACACTGGGGTGAGCTGAGGTCTCTACGTCATGAAACGTGAGGTTTGAACAAATTATTATCCCACCAAATACTGATCTATGCACCCTCAAAAATGCT... | AGAAGACTGTTTTCCAAATAATCTTAAGAATCATCTGCGACACTTATTATGAATGCAGATTTGCAGACCCTGGGCCAGAGCTACTGAATCAGAATATATAAGGCAGGAGCCTAGAAAGACTTTTATCTACTCCCTCCCACCCCCAACCACACACACACAAGTACTTCTTATGCACAGGCAAGTTTGGAAAACAATGGTATAAGCAAAAAGGTAACATATAATAGACACTGGGGTGAGCTGAGGTCTCTACGTCATGAAACGTGAGGTTTGAACAAATTATTATCCCACCAAATACTGATCTATGCACCCTCAAAAATGCT... | pathogenic | 331,354 |
A genetic alteration at chromosome X, position 30308862, in gene NR0B1 (nuclear receptor subfamily 0 group B member 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['46,XY_sex_reversal_2', 'Congenital_adrenal_hypoplasia,_X-linked', 'NR0B1-related_disorder'] | AATGCAGATTTGCAGACCCTGGGCCAGAGCTACTGAATCAGAATATATAAGGCAGGAGCCTAGAAAGACTTTTATCTACTCCCTCCCACCCCCAACCACACACACACAAGTACTTCTTATGCACAGGCAAGTTTGGAAAACAATGGTATAAGCAAAAAGGTAACATATAATAGACACTGGGGTGAGCTGAGGTCTCTACGTCATGAAACGTGAGGTTTGAACAAATTATTATCCCACCAAATACTGATCTATGCACCCTCAAAAATGCTAGGCAGGGGGCAGGGACTTAATCAGAGATTCCAGCACCAGGGAAAAAAGAT... | AATGCAGATTTGCAGACCCTGGGCCAGAGCTACTGAATCAGAATATATAAGGCAGGAGCCTAGAAAGACTTTTATCTACTCCCTCCCACCCCCAACCACACACACACAAGTACTTCTTATGCACAGGCAAGTTTGGAAAACAATGGTATAAGCAAAAAGGTAACATATAATAGACACTGGGGTGAGCTGAGGTCTCTACGTCATGAAACGTGAGGTTTGAACAAATTATTATCCCACCAAATACTGATCTATGCACCCTCAAAAATGCTAGGCAGGGGGCAGGGACTTAATCAGAGATTCCAGCACCAGGGAAAAAAGAT... | pathogenic | 331,356 |
Does the chromosome X mutation at position 31147508 within gene DMD (dystrophin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Duchenne_muscular_dystrophy'] | CTCAAATCTCTCCAGTTTGCCCACTTACTTCAAGTATAGATCTGTATCTTAATTTCTTTTGGGACATGACTTAGAAGACCTGTCAATTTCTCAAACACATTATGTCCACAATCAGAAGTTTCACTATCTTCTTCCAACCAAATCCTCTCCCTTCATTCCTCTTCTTACAATTTGCACTCAGTCCCCAGACCCTGGGAACTCTATTTTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGCGATTCTCCTGCCTC... | CTCAAATCTCTCCAGTTTGCCCACTTACTTCAAGTATAGATCTGTATCTTAATTTCTTTTGGGACATGACTTAGAAGACCTGTCAATTTCTCAAACACATTATGTCCACAATCAGAAGTTTCACTATCTTCTTCCAACCAAATCCTCTCCCTTCATTCCTCTTCTTACAATTTGCACTCAGTCCCCAGACCCTGGGAACTCTATTTTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGCGATTCTCCTGCCTC... | pathogenic | 331,411 |
Mutation at chromosome X, position 31147517, within DMD (dystrophin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | CTCCAGTTTGCCCACTTACTTCAAGTATAGATCTGTATCTTAATTTCTTTTGGGACATGACTTAGAAGACCTGTCAATTTCTCAAACACATTATGTCCACAATCAGAAGTTTCACTATCTTCTTCCAACCAAATCCTCTCCCTTCATTCCTCTTCTTACAATTTGCACTCAGTCCCCAGACCCTGGGAACTCTATTTTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGCGATTCTCCTGCCTCATCCTCCCG... | CTCCAGTTTGCCCACTTACTTCAAGTATAGATCTGTATCTTAATTTCTTTTGGGACATGACTTAGAAGACCTGTCAATTTCTCAAACACATTATGTCCACAATCAGAAGTTTCACTATCTTCTTCCAACCAAATCCTCTCCCTTCATTCCTCTTCTTACAATTTGCACTCAGTCCCCAGACCCTGGGAACTCTATTTTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGCGATTCTCCTGCCTCATCCTCCCG... | pathogenic | 331,412 |
Variant at chromosome position 31147537, chromosome X, gene DMD (dystrophin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TCAAGTATAGATCTGTATCTTAATTTCTTTTGGGACATGACTTAGAAGACCTGTCAATTTCTCAAACACATTATGTCCACAATCAGAAGTTTCACTATCTTCTTCCAACCAAATCCTCTCCCTTCATTCCTCTTCTTACAATTTGCACTCAGTCCCCAGACCCTGGGAACTCTATTTTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGCGATTCTCCTGCCTCATCCTCCCGAGTAGCTGGGACTATAGGCG... | TCAAGTATAGATCTGTATCTTAATTTCTTTTGGGACATGACTTAGAAGACCTGTCAATTTCTCAAACACATTATGTCCACAATCAGAAGTTTCACTATCTTCTTCCAACCAAATCCTCTCCCTTCATTCCTCTTCTTACAATTTGCACTCAGTCCCCAGACCCTGGGAACTCTATTTTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGCGATTCTCCTGCCTCATCCTCCCGAGTAGCTGGGACTATAGGCG... | benign | 331,414 |
Mutation at chromosome X, position 31169485, within DMD (dystrophin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | TATGCTAACCACAAACGAGGCAGGGCTCTTGACCAATGAGCTCAAAAGATATATTACACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATG... | TATGCTAACCACAAACGAGGCAGGGCTCTTGACCAATGAGCTCAAAAGATATATTACACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATG... | pathogenic | 331,416 |
Is the genetic change at chromosome X, position 31169486, within gene DMD (dystrophin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Becker_muscular_dystrophy', 'Dilated_cardiomyopathy_3B', 'Duchenne_muscular_dystrophy'] | ATGCTAACCACAAACGAGGCAGGGCTCTTGACCAATGAGCTCAAAAGATATATTACACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATGG... | ATGCTAACCACAAACGAGGCAGGGCTCTTGACCAATGAGCTCAAAAGATATATTACACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATGG... | pathogenic | 331,417 |
Clinically, how would you classify the variant at chromosome X, position 31169491, gene DMD (dystrophin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic | AACCACAAACGAGGCAGGGCTCTTGACCAATGAGCTCAAAAGATATATTACACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATGGTACTC... | AACCACAAACGAGGCAGGGCTCTTGACCAATGAGCTCAAAAGATATATTACACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATGGTACTC... | pathogenic | 331,418 |
Is chromosome X, position 31169496, gene DMD (dystrophin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Duchenne_muscular_dystrophy'] | CAAACGAGGCAGGGCTCTTGACCAATGAGCTCAAAAGATATATTACACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATGGTACTCATGTG... | CAAACGAGGCAGGGCTCTTGACCAATGAGCTCAAAAGATATATTACACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATGGTACTCATGTG... | pathogenic | 331,419 |
Clinically, how would you classify the variant at chromosome X, position 31169541, gene DMD (dystrophin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Becker_muscular_dystrophy', 'Dilated_cardiomyopathy_3B', 'Duchenne_muscular_dystrophy'] | CACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATGGTACTCATGTGATGTTCTTGCTGTATTTTCAGGTTTTTAGCAAACATTTCCTGAGT... | CACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATGGTACTCATGTGATGTTCTTGCTGTATTTTCAGGTTTTTAGCAAACATTTCCTGAGT... | pathogenic | 331,421 |
The mutation in gene DMD (dystrophin) at chromosome X, position 31169541—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Becker_muscular_dystrophy', 'Dilated_cardiomyopathy_3B', 'Duchenne_muscular_dystrophy'] | CACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATGGTACTCATGTGATGTTCTTGCTGTATTTTCAGGTTTTTAGCAAACATTTCCTGAGT... | CACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATGGTACTCATGTGATGTTCTTGCTGTATTTTCAGGTTTTTAGCAAACATTTCCTGAGT... | pathogenic | 331,422 |
Gene DMD (dystrophin) variant at chromosome position 31169542 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Becker_muscular_dystrophy', 'Duchenne_muscular_dystrophy'] | ACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATGGTACTCATGTGATGTTCTTGCTGTATTTTCAGGTTTTTAGCAAACATTTCCTGAGTA... | ACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATGGTACTCATGTGATGTTCTTGCTGTATTTTCAGGTTTTTAGCAAACATTTCCTGAGTA... | pathogenic | 331,423 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 31169542, gene DMD (dystrophin): what disease(s) if pathogenic? | pathogenic; ['Duchenne_muscular_dystrophy'] | ACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATGGTACTCATGTGATGTTCTTGCTGTATTTTCAGGTTTTTAGCAAACATTTCCTGAGTA... | ACGATCATATACTTCAAAAATATATTTACTCCTTGGTAACATCAAATTCTATTTACAGTGTCAGTTCCAACTTTTTATTCCGATTTGACTTTGACCCCTACAATAATTACAGATTTAACATAAATGGATATTACTGATTATTCTCAATAAAGTAGAAATGTTTTCTCTACCATGGTCTTCACTGACAAATGATCTCAAAAGTACGGCCAAAAATAAAGCTATCATTAAAACAACAAAAAAAGTTCAATATTATCTCGTGGATGGTACTCATGTGATGTTCTTGCTGTATTTTCAGGTTTTTAGCAAACATTTCCTGAGTA... | pathogenic | 331,424 |
Is the chromosome X, position 31172374 variant in DMD (dystrophin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Duchenne_muscular_dystrophy'] | AATCTTGCGGGAAAAGGAGGCAAAAAGGCTTCTATTTGGGGAGGCAGCTACAATCTTTCCTGGAAACTAGGAACTCTCTAATACACAGGACAAACTTTTTTCTGAATGCATTGCTCCAAGCTCCGGAAAGGCCTGTTTACCTCCAAGTTATAAGAATTTTCTTCTGTCCGTAATGACAGGCTAAAGCTCATTGTTTCTGGTTAGATATCATTAAGATGATACGCTAATATTCTCCTCTCCATACCCACTTAAGTTGAAAAATATCAGAAATTTAGGAAAAAGTCCTTCTCATTTGAATTATTTTTGTTTATCAAGCCAGT... | AATCTTGCGGGAAAAGGAGGCAAAAAGGCTTCTATTTGGGGAGGCAGCTACAATCTTTCCTGGAAACTAGGAACTCTCTAATACACAGGACAAACTTTTTTCTGAATGCATTGCTCCAAGCTCCGGAAAGGCCTGTTTACCTCCAAGTTATAAGAATTTTCTTCTGTCCGTAATGACAGGCTAAAGCTCATTGTTTCTGGTTAGATATCATTAAGATGATACGCTAATATTCTCCTCTCCATACCCACTTAAGTTGAAAAATATCAGAAATTTAGGAAAAAGTCCTTCTCATTTGAATTATTTTTGTTTATCAAGCCAGT... | pathogenic | 331,427 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 31172380, gene DMD (dystrophin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Duchenne_muscular_dystrophy'] | GCGGGAAAAGGAGGCAAAAAGGCTTCTATTTGGGGAGGCAGCTACAATCTTTCCTGGAAACTAGGAACTCTCTAATACACAGGACAAACTTTTTTCTGAATGCATTGCTCCAAGCTCCGGAAAGGCCTGTTTACCTCCAAGTTATAAGAATTTTCTTCTGTCCGTAATGACAGGCTAAAGCTCATTGTTTCTGGTTAGATATCATTAAGATGATACGCTAATATTCTCCTCTCCATACCCACTTAAGTTGAAAAATATCAGAAATTTAGGAAAAAGTCCTTCTCATTTGAATTATTTTTGTTTATCAAGCCAGTTACCTG... | GCGGGAAAAGGAGGCAAAAAGGCTTCTATTTGGGGAGGCAGCTACAATCTTTCCTGGAAACTAGGAACTCTCTAATACACAGGACAAACTTTTTTCTGAATGCATTGCTCCAAGCTCCGGAAAGGCCTGTTTACCTCCAAGTTATAAGAATTTTCTTCTGTCCGTAATGACAGGCTAAAGCTCATTGTTTCTGGTTAGATATCATTAAGATGATACGCTAATATTCTCCTCTCCATACCCACTTAAGTTGAAAAATATCAGAAATTTAGGAAAAAGTCCTTCTCATTTGAATTATTTTTGTTTATCAAGCCAGTTACCTG... | pathogenic | 331,428 |
Evaluate this variant at chromosome X, position 31177935, gene DMD (dystrophin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Duchenne_muscular_dystrophy'] | AGGCCTATGTTAGCTTTAGTTTTAAAGTAATATGACAAACACAAGCAAATAAGAGTTTAGTCTAAGGAAAACCAAACGGTCTGTATCTCTGGAAACTTTCAAATTCTGTGATCCATATCAAATGGATCAAATATTGTAATCATCATAGGATTTGTTAACATTAGATACAAGTCTTGCAAAATGAAACACGTTAGGACCTGGCTCTTATGCCTGAATAGGATGGCTTTGTAATATATTTTATACAGTATTTATAATCCTATGAATAAATACTTTAAATACAATTACTGCTATTAAAGAAAACACAGACTTCAGTCTGCTAG... | AGGCCTATGTTAGCTTTAGTTTTAAAGTAATATGACAAACACAAGCAAATAAGAGTTTAGTCTAAGGAAAACCAAACGGTCTGTATCTCTGGAAACTTTCAAATTCTGTGATCCATATCAAATGGATCAAATATTGTAATCATCATAGGATTTGTTAACATTAGATACAAGTCTTGCAAAATGAAACACGTTAGGACCTGGCTCTTATGCCTGAATAGGATGGCTTTGTAATATATTTTATACAGTATTTATAATCCTATGAATAAATACTTTAAATACAATTACTGCTATTAAAGAAAACACAGACTTCAGTCTGCTAG... | pathogenic | 331,433 |
Considering the variant on chromosome X, location 31177969, 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', 'Cardiomyopathy', 'Duchenne_muscular_dystrophy', 'Dystrophin_deficiency'] | ACAAACACAAGCAAATAAGAGTTTAGTCTAAGGAAAACCAAACGGTCTGTATCTCTGGAAACTTTCAAATTCTGTGATCCATATCAAATGGATCAAATATTGTAATCATCATAGGATTTGTTAACATTAGATACAAGTCTTGCAAAATGAAACACGTTAGGACCTGGCTCTTATGCCTGAATAGGATGGCTTTGTAATATATTTTATACAGTATTTATAATCCTATGAATAAATACTTTAAATACAATTACTGCTATTAAAGAAAACACAGACTTCAGTCTGCTAGATTTGTTTTCTTCCTCAAAATTAAAACTTCCCAC... | ACAAACACAAGCAAATAAGAGTTTAGTCTAAGGAAAACCAAACGGTCTGTATCTCTGGAAACTTTCAAATTCTGTGATCCATATCAAATGGATCAAATATTGTAATCATCATAGGATTTGTTAACATTAGATACAAGTCTTGCAAAATGAAACACGTTAGGACCTGGCTCTTATGCCTGAATAGGATGGCTTTGTAATATATTTTATACAGTATTTATAATCCTATGAATAAATACTTTAAATACAATTACTGCTATTAAAGAAAACACAGACTTCAGTCTGCTAGATTTGTTTTCTTCCTCAAAATTAAAACTTCCCAC... | pathogenic | 331,435 |
The mutation in gene DMD (dystrophin) at chromosome X, position 31177970—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | CAAACACAAGCAAATAAGAGTTTAGTCTAAGGAAAACCAAACGGTCTGTATCTCTGGAAACTTTCAAATTCTGTGATCCATATCAAATGGATCAAATATTGTAATCATCATAGGATTTGTTAACATTAGATACAAGTCTTGCAAAATGAAACACGTTAGGACCTGGCTCTTATGCCTGAATAGGATGGCTTTGTAATATATTTTATACAGTATTTATAATCCTATGAATAAATACTTTAAATACAATTACTGCTATTAAAGAAAACACAGACTTCAGTCTGCTAGATTTGTTTTCTTCCTCAAAATTAAAACTTCCCACT... | CAAACACAAGCAAATAAGAGTTTAGTCTAAGGAAAACCAAACGGTCTGTATCTCTGGAAACTTTCAAATTCTGTGATCCATATCAAATGGATCAAATATTGTAATCATCATAGGATTTGTTAACATTAGATACAAGTCTTGCAAAATGAAACACGTTAGGACCTGGCTCTTATGCCTGAATAGGATGGCTTTGTAATATATTTTATACAGTATTTATAATCCTATGAATAAATACTTTAAATACAATTACTGCTATTAAAGAAAACACAGACTTCAGTCTGCTAGATTTGTTTTCTTCCTCAAAATTAAAACTTCCCACT... | pathogenic | 331,436 |
The genetic variant at chromosome X, position 31178681, affecting gene DMD (dystrophin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Dilated_cardiomyopathy_3B', 'Duchenne_muscular_dystrophy'] | AAAGTTTCTTATTTATGAACGGTTGTAACTTCTATAACAGACTACCTGGGTTAGGAAACACAATTTCCAAGAGGCAGAGGACATAACTGAACCTAAATAACTCCCTAAGTTCTTTAAGCATGATGATTAAATAAATCAGATAATATACTACTTATAGCTACCATATCTCAAAATTAAGGGGCGCAATAACGAAGTTTTAAAAAGGAAAGCATAGCCTTCCACTTCCTTTAGGCCTATTAAAGACTGAAAATAAACCTCAATTAATAATATGCATTTATCACGACAGGGTTTTTAAAAAAGGATCTAGTTTAGATTAAATT... | AAAGTTTCTTATTTATGAACGGTTGTAACTTCTATAACAGACTACCTGGGTTAGGAAACACAATTTCCAAGAGGCAGAGGACATAACTGAACCTAAATAACTCCCTAAGTTCTTTAAGCATGATGATTAAATAAATCAGATAATATACTACTTATAGCTACCATATCTCAAAATTAAGGGGCGCAATAACGAAGTTTTAAAAAGGAAAGCATAGCCTTCCACTTCCTTTAGGCCTATTAAAGACTGAAAATAAACCTCAATTAATAATATGCATTTATCACGACAGGGTTTTTAAAAAAGGATCTAGTTTAGATTAAATT... | pathogenic | 331,442 |
Gene mutation in DMD (dystrophin) at chromosome X, position 31178741—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | CAATTTCCAAGAGGCAGAGGACATAACTGAACCTAAATAACTCCCTAAGTTCTTTAAGCATGATGATTAAATAAATCAGATAATATACTACTTATAGCTACCATATCTCAAAATTAAGGGGCGCAATAACGAAGTTTTAAAAAGGAAAGCATAGCCTTCCACTTCCTTTAGGCCTATTAAAGACTGAAAATAAACCTCAATTAATAATATGCATTTATCACGACAGGGTTTTTAAAAAAGGATCTAGTTTAGATTAAATTATATGGTGGAACAATAAAAAAGATTTAATAAAAAGAAATTGAATTCTTACACAAGCTTAT... | CAATTTCCAAGAGGCAGAGGACATAACTGAACCTAAATAACTCCCTAAGTTCTTTAAGCATGATGATTAAATAAATCAGATAATATACTACTTATAGCTACCATATCTCAAAATTAAGGGGCGCAATAACGAAGTTTTAAAAAGGAAAGCATAGCCTTCCACTTCCTTTAGGCCTATTAAAGACTGAAAATAAACCTCAATTAATAATATGCATTTATCACGACAGGGTTTTTAAAAAAGGATCTAGTTTAGATTAAATTATATGGTGGAACAATAAAAAAGATTTAATAAAAAGAAATTGAATTCTTACACAAGCTTAT... | pathogenic | 331,448 |
Evaluate the clinical significance of the mutation at chromosome X, position 31178758 in gene DMD (dystrophin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Duchenne_muscular_dystrophy'] | AGGACATAACTGAACCTAAATAACTCCCTAAGTTCTTTAAGCATGATGATTAAATAAATCAGATAATATACTACTTATAGCTACCATATCTCAAAATTAAGGGGCGCAATAACGAAGTTTTAAAAAGGAAAGCATAGCCTTCCACTTCCTTTAGGCCTATTAAAGACTGAAAATAAACCTCAATTAATAATATGCATTTATCACGACAGGGTTTTTAAAAAAGGATCTAGTTTAGATTAAATTATATGGTGGAACAATAAAAAAGATTTAATAAAAAGAAATTGAATTCTTACACAAGCTTATCTTCCGAATTGGTCATT... | AGGACATAACTGAACCTAAATAACTCCCTAAGTTCTTTAAGCATGATGATTAAATAAATCAGATAATATACTACTTATAGCTACCATATCTCAAAATTAAGGGGCGCAATAACGAAGTTTTAAAAAGGAAAGCATAGCCTTCCACTTCCTTTAGGCCTATTAAAGACTGAAAATAAACCTCAATTAATAATATGCATTTATCACGACAGGGTTTTTAAAAAAGGATCTAGTTTAGATTAAATTATATGGTGGAACAATAAAAAAGATTTAATAAAAAGAAATTGAATTCTTACACAAGCTTATCTTCCGAATTGGTCATT... | pathogenic | 331,450 |
Variant chromosome X, position 31178765, gene DMD (dystrophin): benign or pathogenic? Disease(s)? | pathogenic; ['Calf_muscle_hypertrophy', 'Duchenne_muscular_dystrophy', 'Motor_delay', 'Proximal_muscle_weakness_in_lower_limbs'] | AACTGAACCTAAATAACTCCCTAAGTTCTTTAAGCATGATGATTAAATAAATCAGATAATATACTACTTATAGCTACCATATCTCAAAATTAAGGGGCGCAATAACGAAGTTTTAAAAAGGAAAGCATAGCCTTCCACTTCCTTTAGGCCTATTAAAGACTGAAAATAAACCTCAATTAATAATATGCATTTATCACGACAGGGTTTTTAAAAAAGGATCTAGTTTAGATTAAATTATATGGTGGAACAATAAAAAAGATTTAATAAAAAGAAATTGAATTCTTACACAAGCTTATCTTCCGAATTGGTCATTTCCCCTT... | AACTGAACCTAAATAACTCCCTAAGTTCTTTAAGCATGATGATTAAATAAATCAGATAATATACTACTTATAGCTACCATATCTCAAAATTAAGGGGCGCAATAACGAAGTTTTAAAAAGGAAAGCATAGCCTTCCACTTCCTTTAGGCCTATTAAAGACTGAAAATAAACCTCAATTAATAATATGCATTTATCACGACAGGGTTTTTAAAAAAGGATCTAGTTTAGATTAAATTATATGGTGGAACAATAAAAAAGATTTAATAAAAAGAAATTGAATTCTTACACAAGCTTATCTTCCGAATTGGTCATTTCCCCTT... | pathogenic | 331,451 |
Variant in DMD (dystrophin), chromosome X, position 31178788—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Becker_muscular_dystrophy', 'Dilated_cardiomyopathy_3B', 'Duchenne_muscular_dystrophy'] | AGTTCTTTAAGCATGATGATTAAATAAATCAGATAATATACTACTTATAGCTACCATATCTCAAAATTAAGGGGCGCAATAACGAAGTTTTAAAAAGGAAAGCATAGCCTTCCACTTCCTTTAGGCCTATTAAAGACTGAAAATAAACCTCAATTAATAATATGCATTTATCACGACAGGGTTTTTAAAAAAGGATCTAGTTTAGATTAAATTATATGGTGGAACAATAAAAAAGATTTAATAAAAAGAAATTGAATTCTTACACAAGCTTATCTTCCGAATTGGTCATTTCCCCTTTATCCATAACAGAGCTGTCTGAT... | AGTTCTTTAAGCATGATGATTAAATAAATCAGATAATATACTACTTATAGCTACCATATCTCAAAATTAAGGGGCGCAATAACGAAGTTTTAAAAAGGAAAGCATAGCCTTCCACTTCCTTTAGGCCTATTAAAGACTGAAAATAAACCTCAATTAATAATATGCATTTATCACGACAGGGTTTTTAAAAAAGGATCTAGTTTAGATTAAATTATATGGTGGAACAATAAAAAAGATTTAATAAAAAGAAATTGAATTCTTACACAAGCTTATCTTCCGAATTGGTCATTTCCCCTTTATCCATAACAGAGCTGTCTGAT... | pathogenic | 331,453 |
Chromosome X, position 31182827, gene DMD (dystrophin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | ATTTCCAGTCTTTTGAAAACCAAATACTCAAATTTAAAAGAACTTCCAGGAGCGACAGACTTACGCTGTGCATGCCCCTTACCCATCATGGGACAAAAGTTTTCTGAAGCAATTATTTTCAAAACATTGTCAAGATAAAGCAATTTCACAAGACAAAAGAAATGTGAACAAGAACTTTCAATTAAAACAAGTCTCGCTTTAATAATGTTTTCTAATTGACTGATACGATTCATCTTCAAACAGTTACTCGAATGAACTCTTTTATCTCTATCTCTTCAGAAATCTCTCACCCCATTACCTACAAATGATAACTGAAGCCC... | ATTTCCAGTCTTTTGAAAACCAAATACTCAAATTTAAAAGAACTTCCAGGAGCGACAGACTTACGCTGTGCATGCCCCTTACCCATCATGGGACAAAAGTTTTCTGAAGCAATTATTTTCAAAACATTGTCAAGATAAAGCAATTTCACAAGACAAAAGAAATGTGAACAAGAACTTTCAATTAAAACAAGTCTCGCTTTAATAATGTTTTCTAATTGACTGATACGATTCATCTTCAAACAGTTACTCGAATGAACTCTTTTATCTCTATCTCTTCAGAAATCTCTCACCCCATTACCTACAAATGATAACTGAAGCCC... | pathogenic | 331,476 |
Variant in DMD (dystrophin), chromosome X, position 31204112—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Duchenne_muscular_dystrophy'] | TAATCCCAGCTACTCGGGAGGCTGAGGCATGACAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAACAAAACAAAACAAAAAAAACACACAACCAAAAGATTAGGAAATAACTCGCGTTTATGGCAAGTTGTTTTATAATTGGATTTTAAAAAATCAAAATGAACCTAGATTGCCTGTGGCCATTAATATTCATTGTATGGAAGTTACTTGTGTCTACATTTTGATGATTGATTGGATTGATCATCTATCTGCATTTTGG... | TAATCCCAGCTACTCGGGAGGCTGAGGCATGACAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAACAAAACAAAACAAAAAAAACACACAACCAAAAGATTAGGAAATAACTCGCGTTTATGGCAAGTTGTTTTATAATTGGATTTTAAAAAATCAAAATGAACCTAGATTGCCTGTGGCCATTAATATTCATTGTATGGAAGTTACTTGTGTCTACATTTTGATGATTGATTGGATTGATCATCTATCTGCATTTTGG... | pathogenic | 331,495 |
The mutation impacting DMD (dystrophin) on chromosome X at position 31206579: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Duchenne_muscular_dystrophy'] | CACAGTTGGGACTTCTTTATGGAGTCATAAGATCACTGAGCTTCTAGTCCATCATGTATGTGTTCCCACAGGATACTGTGCATAGTTTGTTGTTGTTGTTGTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGCAGTGCAGTGGTGCGATCTCTGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCGCCTGAGTAGCTGCGATTACAGGCACATGCCATCACACCCAGCTAATTTTTGTATTTTTACTGGAGACGTGTTTCACCATGATGGCCAGGCTGGTCTTGAACTCCTG... | CACAGTTGGGACTTCTTTATGGAGTCATAAGATCACTGAGCTTCTAGTCCATCATGTATGTGTTCCCACAGGATACTGTGCATAGTTTGTTGTTGTTGTTGTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGCAGTGCAGTGGTGCGATCTCTGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCGCCTGAGTAGCTGCGATTACAGGCACATGCCATCACACCCAGCTAATTTTTGTATTTTTACTGGAGACGTGTTTCACCATGATGGCCAGGCTGGTCTTGAACTCCTG... | pathogenic | 331,498 |
Mutation at chromosome X, position 31206596, within DMD (dystrophin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | TATGGAGTCATAAGATCACTGAGCTTCTAGTCCATCATGTATGTGTTCCCACAGGATACTGTGCATAGTTTGTTGTTGTTGTTGTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGCAGTGCAGTGGTGCGATCTCTGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCGCCTGAGTAGCTGCGATTACAGGCACATGCCATCACACCCAGCTAATTTTTGTATTTTTACTGGAGACGTGTTTCACCATGATGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCTCC... | TATGGAGTCATAAGATCACTGAGCTTCTAGTCCATCATGTATGTGTTCCCACAGGATACTGTGCATAGTTTGTTGTTGTTGTTGTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGCAGTGCAGTGGTGCGATCTCTGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCGCCTGAGTAGCTGCGATTACAGGCACATGCCATCACACCCAGCTAATTTTTGTATTTTTACTGGAGACGTGTTTCACCATGATGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCTCC... | pathogenic | 331,500 |
Benign or pathogenic: chromosome X, position 31209509, gene DMD (dystrophin) variant? Disease(s) if pathogenic? | pathogenic; ['Duchenne_muscular_dystrophy'] | AGAAAATGTCTTTCAAGACATGGAATCAATATGAATGCCCATCAATGAGAAATATGGTACATATACACTATGGAATACCATGCAGCTATAAAAAAGAATGAGATCATGTCTTTTGAACACGGATTAGCTGGAGACTATTATCCTTAGCAAACTAATGCAGAAACAGAAAAGTAAATACTGCATGTTCTCACTTCTAAGTGGAAGCTAAATGATGAGAGCTCACGAACACAAGGGAACAACAGATACTGGGGTCTTGAGGGTGGAGGGTGGAAGGAGGGAGAGGAGCAGAAAAGACAACTGTTGGGTACTGCGCTTAACCC... | AGAAAATGTCTTTCAAGACATGGAATCAATATGAATGCCCATCAATGAGAAATATGGTACATATACACTATGGAATACCATGCAGCTATAAAAAAGAATGAGATCATGTCTTTTGAACACGGATTAGCTGGAGACTATTATCCTTAGCAAACTAATGCAGAAACAGAAAAGTAAATACTGCATGTTCTCACTTCTAAGTGGAAGCTAAATGATGAGAGCTCACGAACACAAGGGAACAACAGATACTGGGGTCTTGAGGGTGGAGGGTGGAAGGAGGGAGAGGAGCAGAAAAGACAACTGTTGGGTACTGCGCTTAACCC... | pathogenic | 331,515 |
Is the genetic mutation found on chromosome X at position 31209557, within the gene DMD (dystrophin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | GAAATATGGTACATATACACTATGGAATACCATGCAGCTATAAAAAAGAATGAGATCATGTCTTTTGAACACGGATTAGCTGGAGACTATTATCCTTAGCAAACTAATGCAGAAACAGAAAAGTAAATACTGCATGTTCTCACTTCTAAGTGGAAGCTAAATGATGAGAGCTCACGAACACAAGGGAACAACAGATACTGGGGTCTTGAGGGTGGAGGGTGGAAGGAGGGAGAGGAGCAGAAAAGACAACTGTTGGGTACTGCGCTTAACCCATTTATGCTGGAGGCTGCATATTACTTTTTGTGAAAATCAGACCTTGG... | GAAATATGGTACATATACACTATGGAATACCATGCAGCTATAAAAAAGAATGAGATCATGTCTTTTGAACACGGATTAGCTGGAGACTATTATCCTTAGCAAACTAATGCAGAAACAGAAAAGTAAATACTGCATGTTCTCACTTCTAAGTGGAAGCTAAATGATGAGAGCTCACGAACACAAGGGAACAACAGATACTGGGGTCTTGAGGGTGGAGGGTGGAAGGAGGGAGAGGAGCAGAAAAGACAACTGTTGGGTACTGCGCTTAACCCATTTATGCTGGAGGCTGCATATTACTTTTTGTGAAAATCAGACCTTGG... | pathogenic | 331,518 |
Considering the genetic mutation at chromosome X, position 31209586, impacting DMD (dystrophin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Duchenne_muscular_dystrophy'] | CCATGCAGCTATAAAAAAGAATGAGATCATGTCTTTTGAACACGGATTAGCTGGAGACTATTATCCTTAGCAAACTAATGCAGAAACAGAAAAGTAAATACTGCATGTTCTCACTTCTAAGTGGAAGCTAAATGATGAGAGCTCACGAACACAAGGGAACAACAGATACTGGGGTCTTGAGGGTGGAGGGTGGAAGGAGGGAGAGGAGCAGAAAAGACAACTGTTGGGTACTGCGCTTAACCCATTTATGCTGGAGGCTGCATATTACTTTTTGTGAAAATCAGACCTTGGCGATGACCTTGAGCAGTAGGATAGGAATA... | CCATGCAGCTATAAAAAAGAATGAGATCATGTCTTTTGAACACGGATTAGCTGGAGACTATTATCCTTAGCAAACTAATGCAGAAACAGAAAAGTAAATACTGCATGTTCTCACTTCTAAGTGGAAGCTAAATGATGAGAGCTCACGAACACAAGGGAACAACAGATACTGGGGTCTTGAGGGTGGAGGGTGGAAGGAGGGAGAGGAGCAGAAAAGACAACTGTTGGGTACTGCGCTTAACCCATTTATGCTGGAGGCTGCATATTACTTTTTGTGAAAATCAGACCTTGGCGATGACCTTGAGCAGTAGGATAGGAATA... | pathogenic | 331,522 |
Does the chromosome X mutation at position 31209603 within gene DMD (dystrophin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Duchenne_muscular_dystrophy'] | AGAATGAGATCATGTCTTTTGAACACGGATTAGCTGGAGACTATTATCCTTAGCAAACTAATGCAGAAACAGAAAAGTAAATACTGCATGTTCTCACTTCTAAGTGGAAGCTAAATGATGAGAGCTCACGAACACAAGGGAACAACAGATACTGGGGTCTTGAGGGTGGAGGGTGGAAGGAGGGAGAGGAGCAGAAAAGACAACTGTTGGGTACTGCGCTTAACCCATTTATGCTGGAGGCTGCATATTACTTTTTGTGAAAATCAGACCTTGGCGATGACCTTGAGCAGTAGGATAGGAATAATTCCCACAAGCTTAGT... | AGAATGAGATCATGTCTTTTGAACACGGATTAGCTGGAGACTATTATCCTTAGCAAACTAATGCAGAAACAGAAAAGTAAATACTGCATGTTCTCACTTCTAAGTGGAAGCTAAATGATGAGAGCTCACGAACACAAGGGAACAACAGATACTGGGGTCTTGAGGGTGGAGGGTGGAAGGAGGGAGAGGAGCAGAAAAGACAACTGTTGGGTACTGCGCTTAACCCATTTATGCTGGAGGCTGCATATTACTTTTTGTGAAAATCAGACCTTGGCGATGACCTTGAGCAGTAGGATAGGAATAATTCCCACAAGCTTAGT... | pathogenic | 331,523 |
The genetic variant at chromosome X, position 31261032, affecting gene DMD (dystrophin): benign or pathogenic? Disease name(s) if pathogenic? | benign | CAACTTCTATAAAAATATATGTATAGAAAGACATTTTTGAAGATCCTAGACTATTAAACACCAGCTAACTCTAAGAAGTGGGGTTACGAATGATTTGTCTCTTCTTTATTGTTAGCCTGTCTATATTTTTAAACTTCAAAAATATGAATAGGTATTAATTCTATAATAATAATGATTTTAAAATAAGAGTGAATTAAAATATTACAACTAGAAATTACTGTAATTAGAGTAGGAAATGTTAGAAGTGGGCTAAATCTGTGTAAACCACAGGTTACGATCAGGAGGCCCACAGACTAATTTAAATTAGCTCTTTGTGGACA... | CAACTTCTATAAAAATATATGTATAGAAAGACATTTTTGAAGATCCTAGACTATTAAACACCAGCTAACTCTAAGAAGTGGGGTTACGAATGATTTGTCTCTTCTTTATTGTTAGCCTGTCTATATTTTTAAACTTCAAAAATATGAATAGGTATTAATTCTATAATAATAATGATTTTAAAATAAGAGTGAATTAAAATATTACAACTAGAAATTACTGTAATTAGAGTAGGAAATGTTAGAAGTGGGCTAAATCTGTGTAAACCACAGGTTACGATCAGGAGGCCCACAGACTAATTTAAATTAGCTCTTTGTGGACA... | benign | 331,543 |
For chromosome X, position 31323599, gene DMD (dystrophin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Duchenne_muscular_dystrophy'] | TCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACCAAGATTTTTATAGGTTAAGTGACTTGCCTAAAGCCATACAGTCGCCTAATGACAGAGCCTCTAAGACTAGACTGGAGGACTAAAATTGAAGTTTTCTTATTCATAGATCTGTGCCCTTATCAATACCATCACCATGGTCTTTAGGTACATGAAGGAGCATTGGACAAATAGGATATGTAGCTGCTCTCTAATTCCACTGAGAAACAGCAAGAGACTAATACACAGAAGGGAATTACAGCTTTTCTGGAAT... | TCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACCAAGATTTTTATAGGTTAAGTGACTTGCCTAAAGCCATACAGTCGCCTAATGACAGAGCCTCTAAGACTAGACTGGAGGACTAAAATTGAAGTTTTCTTATTCATAGATCTGTGCCCTTATCAATACCATCACCATGGTCTTTAGGTACATGAAGGAGCATTGGACAAATAGGATATGTAGCTGCTCTCTAATTCCACTGAGAAACAGCAAGAGACTAATACACAGAAGGGAATTACAGCTTTTCTGGAAT... | pathogenic | 331,551 |
Considering the variant on chromosome X, location 31323614, 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', 'Cardiomyopathy', 'Duchenne_muscular_dystrophy', 'Dystrophin_deficiency', 'Elevated_circulating_creatine_kinase_concentration'] | AGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACCAAGATTTTTATAGGTTAAGTGACTTGCCTAAAGCCATACAGTCGCCTAATGACAGAGCCTCTAAGACTAGACTGGAGGACTAAAATTGAAGTTTTCTTATTCATAGATCTGTGCCCTTATCAATACCATCACCATGGTCTTTAGGTACATGAAGGAGCATTGGACAAATAGGATATGTAGCTGCTCTCTAATTCCACTGAGAAACAGCAAGAGACTAATACACAGAAGGGAATTACAGCTTTTCTGGAATTTGTCTCTTTATTAT... | AGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACCAAGATTTTTATAGGTTAAGTGACTTGCCTAAAGCCATACAGTCGCCTAATGACAGAGCCTCTAAGACTAGACTGGAGGACTAAAATTGAAGTTTTCTTATTCATAGATCTGTGCCCTTATCAATACCATCACCATGGTCTTTAGGTACATGAAGGAGCATTGGACAAATAGGATATGTAGCTGCTCTCTAATTCCACTGAGAAACAGCAAGAGACTAATACACAGAAGGGAATTACAGCTTTTCTGGAATTTGTCTCTTTATTAT... | pathogenic | 331,554 |
Regarding the variant at chromosome X and position 31444593, affecting gene DMD (dystrophin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Duchenne_muscular_dystrophy'] | TAAAAAAAAAAAAACTTTTCTTACTAGTCATAATCCTTTGACCTCATTTGGAAATCTACCTGCCACTGTCACAAATCTTTTACCACGTTCTGAAAGCAAACGTGGCATTCTGCTCTCTAAAAGAAATTATAAAATATACTTCTAGAACACTTATATGGGACTAATGTGGCCATTGGTTTTCTTTGGACATTTATTACTTTCCTTATTTATACTTAAGATGAAAAACATACTAAGGATGGAACAGATAAAATTTTAATAGTACTCAACTACTATGGAGCAAACAGAGAAAGGCATATAATCACTTAGCTATATCGCCTTGC... | TAAAAAAAAAAAAACTTTTCTTACTAGTCATAATCCTTTGACCTCATTTGGAAATCTACCTGCCACTGTCACAAATCTTTTACCACGTTCTGAAAGCAAACGTGGCATTCTGCTCTCTAAAAGAAATTATAAAATATACTTCTAGAACACTTATATGGGACTAATGTGGCCATTGGTTTTCTTTGGACATTTATTACTTTCCTTATTTATACTTAAGATGAAAAACATACTAAGGATGGAACAGATAAAATTTTAATAGTACTCAACTACTATGGAGCAAACAGAGAAAGGCATATAATCACTTAGCTATATCGCCTTGC... | pathogenic | 331,569 |
The mutation in gene DMD (dystrophin) at chromosome X, position 31478129—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | TGTGAAATTTAAGTGTGACAATTTAGCATGCTTGGTGATCTATGAGAGTACCAACTGTAAGCAGTTTCTTCTGCTTGGTGGGAGTTGGGGGTTGTAGACACTCAGGAAAGACAACAAAGATAGGTAACATTTTGGCTGGTCCTTGAGGGCTGAAGGAGAATTCGCCAAGTAGACAACGTAGGGGGATCCAGACAGAGAGAACAGCATTTGCAAAGGCAGATATATCTATATCTATATCTATGTGTATATATATGTGTATATCTATGTATATATGTATATATACTATGTATATATCTAACTATGTATGTGTGTGTGTGTAT... | TGTGAAATTTAAGTGTGACAATTTAGCATGCTTGGTGATCTATGAGAGTACCAACTGTAAGCAGTTTCTTCTGCTTGGTGGGAGTTGGGGGTTGTAGACACTCAGGAAAGACAACAAAGATAGGTAACATTTTGGCTGGTCCTTGAGGGCTGAAGGAGAATTCGCCAAGTAGACAACGTAGGGGGATCCAGACAGAGAGAACAGCATTTGCAAAGGCAGATATATCTATATCTATATCTATGTGTATATATATGTGTATATCTATGTATATATGTATATATACTATGTATATATCTAACTATGTATGTGTGTGTGTGTAT... | pathogenic | 331,578 |
Variant at chromosome position 31478129, chromosome X, gene DMD (dystrophin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Duchenne_muscular_dystrophy'] | TGTGAAATTTAAGTGTGACAATTTAGCATGCTTGGTGATCTATGAGAGTACCAACTGTAAGCAGTTTCTTCTGCTTGGTGGGAGTTGGGGGTTGTAGACACTCAGGAAAGACAACAAAGATAGGTAACATTTTGGCTGGTCCTTGAGGGCTGAAGGAGAATTCGCCAAGTAGACAACGTAGGGGGATCCAGACAGAGAGAACAGCATTTGCAAAGGCAGATATATCTATATCTATATCTATGTGTATATATATGTGTATATCTATGTATATATGTATATATACTATGTATATATCTAACTATGTATGTGTGTGTGTGTAT... | TGTGAAATTTAAGTGTGACAATTTAGCATGCTTGGTGATCTATGAGAGTACCAACTGTAAGCAGTTTCTTCTGCTTGGTGGGAGTTGGGGGTTGTAGACACTCAGGAAAGACAACAAAGATAGGTAACATTTTGGCTGGTCCTTGAGGGCTGAAGGAGAATTCGCCAAGTAGACAACGTAGGGGGATCCAGACAGAGAGAACAGCATTTGCAAAGGCAGATATATCTATATCTATATCTATGTGTATATATATGTGTATATCTATGTATATATGTATATATACTATGTATATATCTAACTATGTATGTGTGTGTGTGTAT... | pathogenic | 331,579 |
Gene DMD (dystrophin) variant at chromosome position 31478225 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Duchenne_muscular_dystrophy'] | GACACTCAGGAAAGACAACAAAGATAGGTAACATTTTGGCTGGTCCTTGAGGGCTGAAGGAGAATTCGCCAAGTAGACAACGTAGGGGGATCCAGACAGAGAGAACAGCATTTGCAAAGGCAGATATATCTATATCTATATCTATGTGTATATATATGTGTATATCTATGTATATATGTATATATACTATGTATATATCTAACTATGTATGTGTGTGTGTGTATATATATATATATATATATATACACACACACACACACATACTTTACAGACACACACATTCAATACACTCTGCCCATATCACCCCTTTTTCCCAAATA... | GACACTCAGGAAAGACAACAAAGATAGGTAACATTTTGGCTGGTCCTTGAGGGCTGAAGGAGAATTCGCCAAGTAGACAACGTAGGGGGATCCAGACAGAGAGAACAGCATTTGCAAAGGCAGATATATCTATATCTATATCTATGTGTATATATATGTGTATATCTATGTATATATGTATATATACTATGTATATATCTAACTATGTATGTGTGTGTGTGTATATATATATATATATATATATACACACACACACACACATACTTTACAGACACACACATTCAATACACTCTGCCCATATCACCCCTTTTTCCCAAATA... | pathogenic | 331,585 |
Determine whether the variant at chromosome X, position 31478997, in gene DMD (dystrophin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | TAAAGTTTCTAGCCTGGAAAATTTGTTGGATGATGATTCATTAACTGAAATAGGAAACAGGAAAAAAAAGGTCAGATAAGAGGGGACAGAAGTAGGGAAATGGAAAACAGGAGAACAAATGAACTTGGTTTCAGAATAGTTGCATTTGTGATCGTAATGCCACATGGATTCAGAGATCAGAAGAGAGATGCGGACTAGAGATGTAGATACATCACCATCCAGGCCATCTCAAACAGGGAGGGTTTAAACAATCAAAAGAGAATTAGGCTAAGGTTAGAAACTTGGGCACAACAGTATTTGAGGGGTGGCTAGGAGAAGAA... | TAAAGTTTCTAGCCTGGAAAATTTGTTGGATGATGATTCATTAACTGAAATAGGAAACAGGAAAAAAAAGGTCAGATAAGAGGGGACAGAAGTAGGGAAATGGAAAACAGGAGAACAAATGAACTTGGTTTCAGAATAGTTGCATTTGTGATCGTAATGCCACATGGATTCAGAGATCAGAAGAGAGATGCGGACTAGAGATGTAGATACATCACCATCCAGGCCATCTCAAACAGGGAGGGTTTAAACAATCAAAAGAGAATTAGGCTAAGGTTAGAAACTTGGGCACAACAGTATTTGAGGGGTGGCTAGGAGAAGAA... | pathogenic | 331,612 |
Evaluate if the mutation on chromosome X at position 31479050 in DMD (dystrophin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Duchenne_muscular_dystrophy', 'Qualitative_or_quantitative_defects_of_dystrophin'] | GAAACAGGAAAAAAAAGGTCAGATAAGAGGGGACAGAAGTAGGGAAATGGAAAACAGGAGAACAAATGAACTTGGTTTCAGAATAGTTGCATTTGTGATCGTAATGCCACATGGATTCAGAGATCAGAAGAGAGATGCGGACTAGAGATGTAGATACATCACCATCCAGGCCATCTCAAACAGGGAGGGTTTAAACAATCAAAAGAGAATTAGGCTAAGGTTAGAAACTTGGGCACAACAGTATTTGAGGGGTGGCTAGGAGAAGAATCTAGAAAAATATAGGAAGAAGAACATGGATGGAACAGTTCCATGAAAGCCAA... | GAAACAGGAAAAAAAAGGTCAGATAAGAGGGGACAGAAGTAGGGAAATGGAAAACAGGAGAACAAATGAACTTGGTTTCAGAATAGTTGCATTTGTGATCGTAATGCCACATGGATTCAGAGATCAGAAGAGAGATGCGGACTAGAGATGTAGATACATCACCATCCAGGCCATCTCAAACAGGGAGGGTTTAAACAATCAAAAGAGAATTAGGCTAAGGTTAGAAACTTGGGCACAACAGTATTTGAGGGGTGGCTAGGAGAAGAATCTAGAAAAATATAGGAAGAAGAACATGGATGGAACAGTTCCATGAAAGCCAA... | pathogenic | 331,615 |
Does the variant impacting DMD (dystrophin) on chromosome X, position 31496944, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Becker_muscular_dystrophy', 'Dilated_cardiomyopathy_3B', 'Duchenne_muscular_dystrophy'] | CATAAAATTCATCTTTTGTAGAAATTCTGTCTCATTTCACTATATCGCATAATGCATTTTTTAAAAAAGGCCCATCCTTCTCAATGAGTGCTTTTCTATATGTACACCAGAGTGTTTTGGCTGTTTATTCAAAGTCAGAACATTTAAAACACATAGCACCATTACATTTCACCCTACCACAAAAGCTAATTTAATATTCAGAAATATATGAAGGCAAATGGCTAAAGGAGAAACTGGCAGTTTCCCTGGCATTTTTTTTTTTTTTTGCAAAGATCCCTGGGTCTTCTTTCATGTTCTCTTCCCTTTTTATAATTTCCTAT... | CATAAAATTCATCTTTTGTAGAAATTCTGTCTCATTTCACTATATCGCATAATGCATTTTTTAAAAAAGGCCCATCCTTCTCAATGAGTGCTTTTCTATATGTACACCAGAGTGTTTTGGCTGTTTATTCAAAGTCAGAACATTTAAAACACATAGCACCATTACATTTCACCCTACCACAAAAGCTAATTTAATATTCAGAAATATATGAAGGCAAATGGCTAAAGGAGAAACTGGCAGTTTCCCTGGCATTTTTTTTTTTTTTTGCAAAGATCCCTGGGTCTTCTTTCATGTTCTCTTCCCTTTTTATAATTTCCTAT... | pathogenic | 331,630 |
Mutation at chromosome X, position 31507295, within DMD (dystrophin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | CTGTAGAAAGCTAATAGAGCCTCCCTATCTTTGAAAATGCTATTGCCATTGTTGCTCCCAGTGTACCACCACCAAGTTGACACAAAATTCATATACAAAATAGGGAGATAAGGAACAATGTCTGGGAAGCCAGGGTGCAAACTTGTGAAAAACAAAACAAAACAAAACCTTATACATAAAAATAAACCTGTTCTACTCCTAGCAATCTACTTCTCATAAAAACAAATCCTTTTCTACTCCTAGAAAAAATCTACTCTCTATTTCATCCTTTCAATTAGTATGCATTTCTTTGTAGAAGTTTCCTTCTTTCTTTATATGCT... | CTGTAGAAAGCTAATAGAGCCTCCCTATCTTTGAAAATGCTATTGCCATTGTTGCTCCCAGTGTACCACCACCAAGTTGACACAAAATTCATATACAAAATAGGGAGATAAGGAACAATGTCTGGGAAGCCAGGGTGCAAACTTGTGAAAAACAAAACAAAACAAAACCTTATACATAAAAATAAACCTGTTCTACTCCTAGCAATCTACTTCTCATAAAAACAAATCCTTTTCTACTCCTAGAAAAAATCTACTCTCTATTTCATCCTTTCAATTAGTATGCATTTCTTTGTAGAAGTTTCCTTCTTTCTTTATATGCT... | pathogenic | 331,636 |
Regarding the variant at chromosome X and position 31627693, affecting gene DMD (dystrophin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Duchenne_muscular_dystrophy', 'Qualitative_or_quantitative_defects_of_dystrophin'] | TGCTTCCATAGTAAATATAGTTAGGACACATGGTGAATCTTCCCTTTAATGATTCAGAAGCTTGCAGTTTCTTGAGATTAGAAATAGAGATAAATTTTCATTATATAATACAGCAGATATAAATACAAATTGTATAGTAGAAAATAGACGTATTTTTGCCCTCAACTAGATTTAAAGATATGTTTTATTAAATCCCTGACATAAAATAATTTTTTAGTCATTGGGTTATTCTTTATTTTTCAAAGTAATCTGCTAAAAATAGACTAAAATAGACTTAATCAAAGCTTATTATTTACCTACCATAGCTGATGGGTAAAATG... | TGCTTCCATAGTAAATATAGTTAGGACACATGGTGAATCTTCCCTTTAATGATTCAGAAGCTTGCAGTTTCTTGAGATTAGAAATAGAGATAAATTTTCATTATATAATACAGCAGATATAAATACAAATTGTATAGTAGAAAATAGACGTATTTTTGCCCTCAACTAGATTTAAAGATATGTTTTATTAAATCCCTGACATAAAATAATTTTTTAGTCATTGGGTTATTCTTTATTTTTCAAAGTAATCTGCTAAAAATAGACTAAAATAGACTTAATCAAAGCTTATTATTTACCTACCATAGCTGATGGGTAAAATG... | pathogenic | 331,651 |
Is the genetic change at chromosome X, position 31627802, within gene DMD (dystrophin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Duchenne_muscular_dystrophy'] | ACAGCAGATATAAATACAAATTGTATAGTAGAAAATAGACGTATTTTTGCCCTCAACTAGATTTAAAGATATGTTTTATTAAATCCCTGACATAAAATAATTTTTTAGTCATTGGGTTATTCTTTATTTTTCAAAGTAATCTGCTAAAAATAGACTAAAATAGACTTAATCAAAGCTTATTATTTACCTACCATAGCTGATGGGTAAAATGTAAACCCATGTATTTTTATTTATTTATTTATTTGTTTTGAGATGAAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCCACCTCGGCTCACTGCAACCTCTGCC... | ACAGCAGATATAAATACAAATTGTATAGTAGAAAATAGACGTATTTTTGCCCTCAACTAGATTTAAAGATATGTTTTATTAAATCCCTGACATAAAATAATTTTTTAGTCATTGGGTTATTCTTTATTTTTCAAAGTAATCTGCTAAAAATAGACTAAAATAGACTTAATCAAAGCTTATTATTTACCTACCATAGCTGATGGGTAAAATGTAAACCCATGTATTTTTATTTATTTATTTATTTGTTTTGAGATGAAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCCACCTCGGCTCACTGCAACCTCTGCC... | pathogenic | 331,657 |
A mutation at chromosome position 31627803 on chromosome X in gene DMD (dystrophin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Duchenne_muscular_dystrophy'] | CAGCAGATATAAATACAAATTGTATAGTAGAAAATAGACGTATTTTTGCCCTCAACTAGATTTAAAGATATGTTTTATTAAATCCCTGACATAAAATAATTTTTTAGTCATTGGGTTATTCTTTATTTTTCAAAGTAATCTGCTAAAAATAGACTAAAATAGACTTAATCAAAGCTTATTATTTACCTACCATAGCTGATGGGTAAAATGTAAACCCATGTATTTTTATTTATTTATTTATTTGTTTTGAGATGAAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCCACCTCGGCTCACTGCAACCTCTGCCT... | CAGCAGATATAAATACAAATTGTATAGTAGAAAATAGACGTATTTTTGCCCTCAACTAGATTTAAAGATATGTTTTATTAAATCCCTGACATAAAATAATTTTTTAGTCATTGGGTTATTCTTTATTTTTCAAAGTAATCTGCTAAAAATAGACTAAAATAGACTTAATCAAAGCTTATTATTTACCTACCATAGCTGATGGGTAAAATGTAAACCCATGTATTTTTATTTATTTATTTATTTGTTTTGAGATGAAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCCACCTCGGCTCACTGCAACCTCTGCCT... | pathogenic | 331,658 |
A genetic variant at chromosome X, position 31627819, affecting gene DMD (dystrophin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | AAATTGTATAGTAGAAAATAGACGTATTTTTGCCCTCAACTAGATTTAAAGATATGTTTTATTAAATCCCTGACATAAAATAATTTTTTAGTCATTGGGTTATTCTTTATTTTTCAAAGTAATCTGCTAAAAATAGACTAAAATAGACTTAATCAAAGCTTATTATTTACCTACCATAGCTGATGGGTAAAATGTAAACCCATGTATTTTTATTTATTTATTTATTTGTTTTGAGATGAAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCCACCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGAT... | AAATTGTATAGTAGAAAATAGACGTATTTTTGCCCTCAACTAGATTTAAAGATATGTTTTATTAAATCCCTGACATAAAATAATTTTTTAGTCATTGGGTTATTCTTTATTTTTCAAAGTAATCTGCTAAAAATAGACTAAAATAGACTTAATCAAAGCTTATTATTTACCTACCATAGCTGATGGGTAAAATGTAAACCCATGTATTTTTATTTATTTATTTATTTGTTTTGAGATGAAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCCACCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGAT... | pathogenic | 331,661 |
Does the chromosome X mutation at position 31627824 within gene DMD (dystrophin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Duchenne_muscular_dystrophy'] | GTATAGTAGAAAATAGACGTATTTTTGCCCTCAACTAGATTTAAAGATATGTTTTATTAAATCCCTGACATAAAATAATTTTTTAGTCATTGGGTTATTCTTTATTTTTCAAAGTAATCTGCTAAAAATAGACTAAAATAGACTTAATCAAAGCTTATTATTTACCTACCATAGCTGATGGGTAAAATGTAAACCCATGTATTTTTATTTATTTATTTATTTGTTTTGAGATGAAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCCACCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCC... | GTATAGTAGAAAATAGACGTATTTTTGCCCTCAACTAGATTTAAAGATATGTTTTATTAAATCCCTGACATAAAATAATTTTTTAGTCATTGGGTTATTCTTTATTTTTCAAAGTAATCTGCTAAAAATAGACTAAAATAGACTTAATCAAAGCTTATTATTTACCTACCATAGCTGATGGGTAAAATGTAAACCCATGTATTTTTATTTATTTATTTATTTGTTTTGAGATGAAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCCACCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCC... | pathogenic | 331,662 |
Is the genetic change at chromosome X, position 31729764, within gene DMD (dystrophin) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GTGGCTAGTGTTACTGAAATAATACATTAGCATACATCCACATTCATTGTTTAAGCAACAATAAAGAGTTAAACTTTCAAAACCAAGAACAGCCTATTTTAATTAGCAATCACTACAACTGAAAGAAGACATGTCTTTAGGAAGTGAATCAAAACATACATAATTTCAGACAAAAGAAGTATTTAGTCTTAGTACAATGATTAAGGTCATTAACAAAAGCAACAAAACAAGATGGGAAATGGTAAACATACTAGAAAGAGCGCAGATTTTCAAGTCAGAAAGAGACATTTACAAATTCCAAGCTCTGTTCTTTGCTTGTT... | GTGGCTAGTGTTACTGAAATAATACATTAGCATACATCCACATTCATTGTTTAAGCAACAATAAAGAGTTAAACTTTCAAAACCAAGAACAGCCTATTTTAATTAGCAATCACTACAACTGAAAGAAGACATGTCTTTAGGAAGTGAATCAAAACATACATAATTTCAGACAAAAGAAGTATTTAGTCTTAGTACAATGATTAAGGTCATTAACAAAAGCAACAAAACAAGATGGGAAATGGTAAACATACTAGAAAGAGCGCAGATTTTCAAGTCAGAAAGAGACATTTACAAATTCCAAGCTCTGTTCTTTGCTTGTT... | benign | 331,701 |
A mutation at chromosome position 31773946 on chromosome X in gene DMD (dystrophin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TCTGGAGACTACTGAGCACATCAATGGCTTCCCTAAATGCTGGACTCACAAACCCGTCACAAGGAAGTGTGGACTTTCTCTCCCAATCTATTATCTGGTAACTTCTGCAGGAAGCTATGTCAATGGTAGACTAGGCTACAGAAGCGGAAACAAGCTCTCATTTCCATATAATATTATGATGTGATATACAGTTTGCATAATACAAATGCCATCATTGGTTAGATTTCTAGAGTTCGTGGTGGAACCAAATATAATTACTAACATTTGTTCAATACTAGCAGTAAGCAGTAAGCAAGGCAAAGTGGGAAGCATTTTTCATG... | TCTGGAGACTACTGAGCACATCAATGGCTTCCCTAAATGCTGGACTCACAAACCCGTCACAAGGAAGTGTGGACTTTCTCTCCCAATCTATTATCTGGTAACTTCTGCAGGAAGCTATGTCAATGGTAGACTAGGCTACAGAAGCGGAAACAAGCTCTCATTTCCATATAATATTATGATGTGATATACAGTTTGCATAATACAAATGCCATCATTGGTTAGATTTCTAGAGTTCGTGGTGGAACCAAATATAATTACTAACATTTGTTCAATACTAGCAGTAAGCAGTAAGCAAGGCAAAGTGGGAAGCATTTTTCATG... | benign | 331,704 |
Is the genetic variant on chromosome X, position 31820015, gene DMD (dystrophin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Duchenne_muscular_dystrophy'] | GCTTCCCTGACCACACTATAGACAATAATACCCTCATCCCATCTCCCTGCTTAGTTGTTCTCTGTAATGGTGTTTCTCAAATGTCAGTGTGCACAGGATTCACCTGGGGATTCTATTAAAATGCAGATTGTGATTCAGTGGGTCTAGGATAGGGGCCTCAGATTCTGTGTGTCTAACAAATACCCATTGACATCAATCTGTAGACTACACTCTACAGCACTTATAATTATTGAGACAGTATATATTTTCTTCATTAGTTTATTGTCTTTCTCTTTCAATTACAATATATGTTTTATGAAAGGAGAGACTTTTATTCTATG... | GCTTCCCTGACCACACTATAGACAATAATACCCTCATCCCATCTCCCTGCTTAGTTGTTCTCTGTAATGGTGTTTCTCAAATGTCAGTGTGCACAGGATTCACCTGGGGATTCTATTAAAATGCAGATTGTGATTCAGTGGGTCTAGGATAGGGGCCTCAGATTCTGTGTGTCTAACAAATACCCATTGACATCAATCTGTAGACTACACTCTACAGCACTTATAATTATTGAGACAGTATATATTTTCTTCATTAGTTTATTGTCTTTCTCTTTCAATTACAATATATGTTTTATGAAAGGAGAGACTTTTATTCTATG... | pathogenic | 331,720 |
The mutation in gene DMD (dystrophin) at chromosome X, position 31820036—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | ACAATAATACCCTCATCCCATCTCCCTGCTTAGTTGTTCTCTGTAATGGTGTTTCTCAAATGTCAGTGTGCACAGGATTCACCTGGGGATTCTATTAAAATGCAGATTGTGATTCAGTGGGTCTAGGATAGGGGCCTCAGATTCTGTGTGTCTAACAAATACCCATTGACATCAATCTGTAGACTACACTCTACAGCACTTATAATTATTGAGACAGTATATATTTTCTTCATTAGTTTATTGTCTTTCTCTTTCAATTACAATATATGTTTTATGAAAGGAGAGACTTTTATTCTATGCTGTACTCGCAGCACCAGTAT... | ACAATAATACCCTCATCCCATCTCCCTGCTTAGTTGTTCTCTGTAATGGTGTTTCTCAAATGTCAGTGTGCACAGGATTCACCTGGGGATTCTATTAAAATGCAGATTGTGATTCAGTGGGTCTAGGATAGGGGCCTCAGATTCTGTGTGTCTAACAAATACCCATTGACATCAATCTGTAGACTACACTCTACAGCACTTATAATTATTGAGACAGTATATATTTTCTTCATTAGTTTATTGTCTTTCTCTTTCAATTACAATATATGTTTTATGAAAGGAGAGACTTTTATTCTATGCTGTACTCGCAGCACCAGTAT... | pathogenic | 331,722 |
Variant in DMD (dystrophin), chromosome X, position 31875215—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic | AATCATCAGACTGAACCCAAGACTGTGCCACTGGCTGAGCAGGCTGAGTTTTGTGCTAGTGAAATGATGTCTACTTGTGACTTCCACAGTGCCATCTGCTCTTGAGGAGTAGCTATCAGAATGGTAGACATAAGTGTCAGGAGGAAGTAAGGTAAACATAGTCGAGAACATTTTGCTAATCTAACTCATTTTAGTTGTAGCAAACTTCCCTCTATCTCCTTGTTACTCATGCCCATCTTCCCGAAACTTTTACTTCCTCTTCACTAGAATATTCTCAAACTTCCTTTTCCCTTTGCTCTCAGTTCCAGCAAAACAACAGC... | AATCATCAGACTGAACCCAAGACTGTGCCACTGGCTGAGCAGGCTGAGTTTTGTGCTAGTGAAATGATGTCTACTTGTGACTTCCACAGTGCCATCTGCTCTTGAGGAGTAGCTATCAGAATGGTAGACATAAGTGTCAGGAGGAAGTAAGGTAAACATAGTCGAGAACATTTTGCTAATCTAACTCATTTTAGTTGTAGCAAACTTCCCTCTATCTCCTTGTTACTCATGCCCATCTTCCCGAAACTTTTACTTCCTCTTCACTAGAATATTCTCAAACTTCCTTTTCCCTTTGCTCTCAGTTCCAGCAAAACAACAGC... | pathogenic | 331,738 |
Does the genetic variant at chromosome X, position 31875299, impacting gene DMD (dystrophin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | CACAGTGCCATCTGCTCTTGAGGAGTAGCTATCAGAATGGTAGACATAAGTGTCAGGAGGAAGTAAGGTAAACATAGTCGAGAACATTTTGCTAATCTAACTCATTTTAGTTGTAGCAAACTTCCCTCTATCTCCTTGTTACTCATGCCCATCTTCCCGAAACTTTTACTTCCTCTTCACTAGAATATTCTCAAACTTCCTTTTCCCTTTGCTCTCAGTTCCAGCAAAACAACAGCTAAATGGAGATTAAAATGTTAGGTTTTTACAATACTGGACAGTAAATAAATTTAACAATTAAAGTCAATTAAATAAAAGAAAAA... | CACAGTGCCATCTGCTCTTGAGGAGTAGCTATCAGAATGGTAGACATAAGTGTCAGGAGGAAGTAAGGTAAACATAGTCGAGAACATTTTGCTAATCTAACTCATTTTAGTTGTAGCAAACTTCCCTCTATCTCCTTGTTACTCATGCCCATCTTCCCGAAACTTTTACTTCCTCTTCACTAGAATATTCTCAAACTTCCTTTTCCCTTTGCTCTCAGTTCCAGCAAAACAACAGCTAAATGGAGATTAAAATGTTAGGTTTTTACAATACTGGACAGTAAATAAATTTAACAATTAAAGTCAATTAAATAAAAGAAAAA... | pathogenic | 331,742 |
Gene DMD (dystrophin) variant at chromosome X, position 31875299—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Duchenne_muscular_dystrophy'] | CACAGTGCCATCTGCTCTTGAGGAGTAGCTATCAGAATGGTAGACATAAGTGTCAGGAGGAAGTAAGGTAAACATAGTCGAGAACATTTTGCTAATCTAACTCATTTTAGTTGTAGCAAACTTCCCTCTATCTCCTTGTTACTCATGCCCATCTTCCCGAAACTTTTACTTCCTCTTCACTAGAATATTCTCAAACTTCCTTTTCCCTTTGCTCTCAGTTCCAGCAAAACAACAGCTAAATGGAGATTAAAATGTTAGGTTTTTACAATACTGGACAGTAAATAAATTTAACAATTAAAGTCAATTAAATAAAAGAAAAA... | CACAGTGCCATCTGCTCTTGAGGAGTAGCTATCAGAATGGTAGACATAAGTGTCAGGAGGAAGTAAGGTAAACATAGTCGAGAACATTTTGCTAATCTAACTCATTTTAGTTGTAGCAAACTTCCCTCTATCTCCTTGTTACTCATGCCCATCTTCCCGAAACTTTTACTTCCTCTTCACTAGAATATTCTCAAACTTCCTTTTCCCTTTGCTCTCAGTTCCAGCAAAACAACAGCTAAATGGAGATTAAAATGTTAGGTTTTTACAATACTGGACAGTAAATAAATTTAACAATTAAAGTCAATTAAATAAAAGAAAAA... | pathogenic | 331,743 |
The mutation in gene DMD (dystrophin) at chromosome X, position 31929700—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | TTCAAATAACTACCTGCTTGAAATAGAGACACTTAAGCGCACATTATGGTTTTAATGTCATAAAATTGGTACTTATTTTAGTTCCTAAATATTTTATCAGTCGTGTAAATGATCTGTTATTAGAATGTCAGCATCACCAATTTAAAAAATACAATAAATAACCTGACACAATTCAAAATGTTCACAAATTAGATGACTCAGTATCGTAAAGATGTTGACTGAGCTCCAGATTCACAAAATTTCAATCAATATCCTGGAAGGCTTTATGTAAAAATAGACAATATAGTTCTAAAATTTATTCAAAGAACCAAAAGTAGCCA... | TTCAAATAACTACCTGCTTGAAATAGAGACACTTAAGCGCACATTATGGTTTTAATGTCATAAAATTGGTACTTATTTTAGTTCCTAAATATTTTATCAGTCGTGTAAATGATCTGTTATTAGAATGTCAGCATCACCAATTTAAAAAATACAATAAATAACCTGACACAATTCAAAATGTTCACAAATTAGATGACTCAGTATCGTAAAGATGTTGACTGAGCTCCAGATTCACAAAATTTCAATCAATATCCTGGAAGGCTTTATGTAAAAATAGACAATATAGTTCTAAAATTTATTCAAAGAACCAAAAGTAGCCA... | pathogenic | 331,752 |
Located at chromosome X position 31932189, the variant affecting gene DMD (dystrophin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Duchenne_muscular_dystrophy'] | ATTATCATCTTAAGAGGTAACTGACATTGAGAGTATTGACTCTCAATATACACAGTGCCAGGCACTGTGCTAACCTTTTCACATTTATTATCTTAGTTTATCTTCATATTATAATAATTATATCAGGTAGATCCAATTATCTTCATTTTATATGGAAGGAAACTGAGACAAAGGGGTTAAATACCAGCTCCCAGGACACAAATCTAGCAAGCAACAAAGGTGTGGTTCAAATTTGGGTAGTTTCATTCTGGAGTCCTCATTTTTTACTTCATATCCCTAAATTTCTCGAACTCATTCACCACCACATAGTGTATGCCCTT... | ATTATCATCTTAAGAGGTAACTGACATTGAGAGTATTGACTCTCAATATACACAGTGCCAGGCACTGTGCTAACCTTTTCACATTTATTATCTTAGTTTATCTTCATATTATAATAATTATATCAGGTAGATCCAATTATCTTCATTTTATATGGAAGGAAACTGAGACAAAGGGGTTAAATACCAGCTCCCAGGACACAAATCTAGCAAGCAACAAAGGTGTGGTTCAAATTTGGGTAGTTTCATTCTGGAGTCCTCATTTTTTACTTCATATCCCTAAATTTCTCGAACTCATTCACCACCACATAGTGTATGCCCTT... | pathogenic | 331,760 |
The mutation impacting DMD (dystrophin) on chromosome X at position 31968338: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Becker_muscular_dystrophy', 'Dilated_cardiomyopathy_3B', 'Duchenne_muscular_dystrophy'] | ATTTTTACTTGATTTGCTACTGGATGCTTAGAAATAGCTATGAGTATATTGGTAGAACCAGTACTTATATTTTATTACATTTTTACATTTCATAAAATTTAAGTGATATAAAAATCCTGAGGAAGTATGCCACAAAAGTGGTCTCAGTGGAAATTTAAATATGTTAACATTTATTTTTAAAATGTAGCGTGAAATAGACAACTTTAAAAGCTCAGCTTAAAAAAAAAACTCAAGGAAGCTGAACTTGACTTTTTAAAGCACTGAAGTGCAATATTTAATGTAGGTCAACATGTTTAAATGGGAAAATTTTTTTCCTAATT... | ATTTTTACTTGATTTGCTACTGGATGCTTAGAAATAGCTATGAGTATATTGGTAGAACCAGTACTTATATTTTATTACATTTTTACATTTCATAAAATTTAAGTGATATAAAAATCCTGAGGAAGTATGCCACAAAAGTGGTCTCAGTGGAAATTTAAATATGTTAACATTTATTTTTAAAATGTAGCGTGAAATAGACAACTTTAAAAGCTCAGCTTAAAAAAAAAACTCAAGGAAGCTGAACTTGACTTTTTAAAGCACTGAAGTGCAATATTTAATGTAGGTCAACATGTTTAAATGGGAAAATTTTTTTCCTAATT... | pathogenic | 331,767 |
Evaluate this variant at chromosome X, position 31968341, gene DMD (dystrophin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Duchenne_muscular_dystrophy'] | TTTACTTGATTTGCTACTGGATGCTTAGAAATAGCTATGAGTATATTGGTAGAACCAGTACTTATATTTTATTACATTTTTACATTTCATAAAATTTAAGTGATATAAAAATCCTGAGGAAGTATGCCACAAAAGTGGTCTCAGTGGAAATTTAAATATGTTAACATTTATTTTTAAAATGTAGCGTGAAATAGACAACTTTAAAAGCTCAGCTTAAAAAAAAAACTCAAGGAAGCTGAACTTGACTTTTTAAAGCACTGAAGTGCAATATTTAATGTAGGTCAACATGTTTAAATGGGAAAATTTTTTTCCTAATTACA... | TTTACTTGATTTGCTACTGGATGCTTAGAAATAGCTATGAGTATATTGGTAGAACCAGTACTTATATTTTATTACATTTTTACATTTCATAAAATTTAAGTGATATAAAAATCCTGAGGAAGTATGCCACAAAAGTGGTCTCAGTGGAAATTTAAATATGTTAACATTTATTTTTAAAATGTAGCGTGAAATAGACAACTTTAAAAGCTCAGCTTAAAAAAAAAACTCAAGGAAGCTGAACTTGACTTTTTAAAGCACTGAAGTGCAATATTTAATGTAGGTCAACATGTTTAAATGGGAAAATTTTTTTCCTAATTACA... | pathogenic | 331,768 |
A genetic variant on chromosome X, position 31968478, affects the gene DMD (dystrophin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Duchenne_muscular_dystrophy', 'Qualitative_or_quantitative_defects_of_dystrophin'] | GTCTCAGTGGAAATTTAAATATGTTAACATTTATTTTTAAAATGTAGCGTGAAATAGACAACTTTAAAAGCTCAGCTTAAAAAAAAAACTCAAGGAAGCTGAACTTGACTTTTTAAAGCACTGAAGTGCAATATTTAATGTAGGTCAACATGTTTAAATGGGAAAATTTTTTTCCTAATTACAGCCAAATCCCTAGCTGTAATTAACTTAAAATTTGTATACTATTTCACAACAGAGTCAGCATATACCACTTTCTTATAAAATTAGAAAGATCTAAAATTTTAGAGCTTATTTGGTGAAACAGGCATATTGCTACATCT... | GTCTCAGTGGAAATTTAAATATGTTAACATTTATTTTTAAAATGTAGCGTGAAATAGACAACTTTAAAAGCTCAGCTTAAAAAAAAAACTCAAGGAAGCTGAACTTGACTTTTTAAAGCACTGAAGTGCAATATTTAATGTAGGTCAACATGTTTAAATGGGAAAATTTTTTTCCTAATTACAGCCAAATCCCTAGCTGTAATTAACTTAAAATTTGTATACTATTTCACAACAGAGTCAGCATATACCACTTTCTTATAAAATTAGAAAGATCTAAAATTTTAGAGCTTATTTGGTGAAACAGGCATATTGCTACATCT... | pathogenic | 331,777 |
Evaluate this variant at chromosome X, position 32216930, gene DMD (dystrophin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Duchenne_muscular_dystrophy'] | TTAAACAACACACTTAATGAGGAGAAAAATAAATCAATTTAAATTAACCCAGAATAGACACAGATGATAAAATTAGTAGAGAAGAATATTCTAACAGTTATTATATCTGTATTCCATATAGTCAAGAAAGTAAAGACTGAACATGTTGAGTAGACACATGGAAGAAATAAAAAGACCCAACTTTTACTTCTAAGAGATGAAAATGTCTGATGTTAAAAATATATACTACATGGGATTAGCCATAGATTAGACTTTGAAAAAGATTAGTCAATTTGACAATAGAGATTATATAAAACAAATTACAGAGAAAAGAGAGACCA... | TTAAACAACACACTTAATGAGGAGAAAAATAAATCAATTTAAATTAACCCAGAATAGACACAGATGATAAAATTAGTAGAGAAGAATATTCTAACAGTTATTATATCTGTATTCCATATAGTCAAGAAAGTAAAGACTGAACATGTTGAGTAGACACATGGAAGAAATAAAAAGACCCAACTTTTACTTCTAAGAGATGAAAATGTCTGATGTTAAAAATATATACTACATGGGATTAGCCATAGATTAGACTTTGAAAAAGATTAGTCAATTTGACAATAGAGATTATATAAAACAAATTACAGAGAAAAGAGAGACCA... | pathogenic | 331,783 |
Regarding the variant found on chromosome X at position 32216961 in gene DMD (dystrophin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | AATCAATTTAAATTAACCCAGAATAGACACAGATGATAAAATTAGTAGAGAAGAATATTCTAACAGTTATTATATCTGTATTCCATATAGTCAAGAAAGTAAAGACTGAACATGTTGAGTAGACACATGGAAGAAATAAAAAGACCCAACTTTTACTTCTAAGAGATGAAAATGTCTGATGTTAAAAATATATACTACATGGGATTAGCCATAGATTAGACTTTGAAAAAGATTAGTCAATTTGACAATAGAGATTATATAAAACAAATTACAGAGAAAAGAGAGACCAAACAGACAATGAACATAACATCAGTGAGTAG... | AATCAATTTAAATTAACCCAGAATAGACACAGATGATAAAATTAGTAGAGAAGAATATTCTAACAGTTATTATATCTGTATTCCATATAGTCAAGAAAGTAAAGACTGAACATGTTGAGTAGACACATGGAAGAAATAAAAAGACCCAACTTTTACTTCTAAGAGATGAAAATGTCTGATGTTAAAAATATATACTACATGGGATTAGCCATAGATTAGACTTTGAAAAAGATTAGTCAATTTGACAATAGAGATTATATAAAACAAATTACAGAGAAAAGAGAGACCAAACAGACAATGAACATAACATCAGTGAGTAG... | pathogenic | 331,788 |
Regarding the variant at chromosome X and position 32216961, affecting gene DMD (dystrophin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Duchenne_muscular_dystrophy'] | AATCAATTTAAATTAACCCAGAATAGACACAGATGATAAAATTAGTAGAGAAGAATATTCTAACAGTTATTATATCTGTATTCCATATAGTCAAGAAAGTAAAGACTGAACATGTTGAGTAGACACATGGAAGAAATAAAAAGACCCAACTTTTACTTCTAAGAGATGAAAATGTCTGATGTTAAAAATATATACTACATGGGATTAGCCATAGATTAGACTTTGAAAAAGATTAGTCAATTTGACAATAGAGATTATATAAAACAAATTACAGAGAAAAGAGAGACCAAACAGACAATGAACATAACATCAGTGAGTAG... | AATCAATTTAAATTAACCCAGAATAGACACAGATGATAAAATTAGTAGAGAAGAATATTCTAACAGTTATTATATCTGTATTCCATATAGTCAAGAAAGTAAAGACTGAACATGTTGAGTAGACACATGGAAGAAATAAAAAGACCCAACTTTTACTTCTAAGAGATGAAAATGTCTGATGTTAAAAATATATACTACATGGGATTAGCCATAGATTAGACTTTGAAAAAGATTAGTCAATTTGACAATAGAGATTATATAAAACAAATTACAGAGAAAAGAGAGACCAAACAGACAATGAACATAACATCAGTGAGTAG... | pathogenic | 331,789 |
The mutation impacting DMD (dystrophin) on chromosome X at position 32216988: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Duchenne_muscular_dystrophy'] | CACAGATGATAAAATTAGTAGAGAAGAATATTCTAACAGTTATTATATCTGTATTCCATATAGTCAAGAAAGTAAAGACTGAACATGTTGAGTAGACACATGGAAGAAATAAAAAGACCCAACTTTTACTTCTAAGAGATGAAAATGTCTGATGTTAAAAATATATACTACATGGGATTAGCCATAGATTAGACTTTGAAAAAGATTAGTCAATTTGACAATAGAGATTATATAAAACAAATTACAGAGAAAAGAGAGACCAAACAGACAATGAACATAACATCAGTGAGTAGTGGGGCACTTTAAGGAGCCTAATAAAT... | CACAGATGATAAAATTAGTAGAGAAGAATATTCTAACAGTTATTATATCTGTATTCCATATAGTCAAGAAAGTAAAGACTGAACATGTTGAGTAGACACATGGAAGAAATAAAAAGACCCAACTTTTACTTCTAAGAGATGAAAATGTCTGATGTTAAAAATATATACTACATGGGATTAGCCATAGATTAGACTTTGAAAAAGATTAGTCAATTTGACAATAGAGATTATATAAAACAAATTACAGAGAAAAGAGAGACCAAACAGACAATGAACATAACATCAGTGAGTAGTGGGGCACTTTAAGGAGCCTAATAAAT... | pathogenic | 331,791 |
Evaluate the clinical significance of the mutation at chromosome X, position 32287687 in gene DMD (dystrophin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Duchenne_muscular_dystrophy', 'likely other unspecified diseases'] | CTGGCTTTGGATACTGTGGGACCAGCTATTTTCAAGGAAGTTGAGATAAATCTGTTTTTTTGTTTTGTTTTGTTTTGTTTGAGACGGAGCCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGTGGATTTGGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCATGCCACCACGCACAGGTCATTTTTGTATTTTTAATGGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCGGACTCCTGACCTCAAATGATGTGCCCGCCTTGGACTCC... | CTGGCTTTGGATACTGTGGGACCAGCTATTTTCAAGGAAGTTGAGATAAATCTGTTTTTTTGTTTTGTTTTGTTTTGTTTGAGACGGAGCCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGTGGATTTGGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCATGCCACCACGCACAGGTCATTTTTGTATTTTTAATGGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCGGACTCCTGACCTCAAATGATGTGCCCGCCTTGGACTCC... | pathogenic | 331,811 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 32287762, gene DMD (dystrophin). What disease(s) is it linked to if pathogenic? | benign | TGTTTGAGACGGAGCCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGTGGATTTGGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCATGCCACCACGCACAGGTCATTTTTGTATTTTTAATGGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCGGACTCCTGACCTCAAATGATGTGCCCGCCTTGGACTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGCACCTGCCCTGGAAGGTGCAGTGAGATAAATCTGGTAGACTAT... | TGTTTGAGACGGAGCCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGTGGATTTGGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCATGCCACCACGCACAGGTCATTTTTGTATTTTTAATGGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCGGACTCCTGACCTCAAATGATGTGCCCGCCTTGGACTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGCACCTGCCCTGGAAGGTGCAGTGAGATAAATCTGGTAGACTAT... | benign | 331,814 |
Does the variant on chromosome X at location 32310257 affecting gene DMD (dystrophin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic | GTAATTCTTTTAACATATTACATATTATTTGTGTTGTACTGCACTTTCAAAAAAGATGTATGTTAAAGCACAGCAATACTTACTATAGTTCTGTAATTTGATTCATGCATATCTGTCAGGAATAAAATCAACCACAATTTCAAACCTTCCCAACCAGCAGCTGTACAATTTATGCACTGCTTTTCCATTTTTACTACTGGATAATGACAATGATGAATGCCTTTAACAGGAAATACATATTCACTGAAAAGACTGAGCTCAAAACTATCCCCCTTCAAAAAAGTCAATGAAGGTAGGAAGCCCATTCACCTGCTGGAGAT... | GTAATTCTTTTAACATATTACATATTATTTGTGTTGTACTGCACTTTCAAAAAAGATGTATGTTAAAGCACAGCAATACTTACTATAGTTCTGTAATTTGATTCATGCATATCTGTCAGGAATAAAATCAACCACAATTTCAAACCTTCCCAACCAGCAGCTGTACAATTTATGCACTGCTTTTCCATTTTTACTACTGGATAATGACAATGATGAATGCCTTTAACAGGAAATACATATTCACTGAAAAGACTGAGCTCAAAACTATCCCCCTTCAAAAAAGTCAATGAAGGTAGGAAGCCCATTCACCTGCTGGAGAT... | pathogenic | 331,825 |
Variant on chromosome X, at position 32342249, affecting DMD (dystrophin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Duchenne_muscular_dystrophy', 'Qualitative_or_quantitative_defects_of_dystrophin'] | TATAACTGCAATATTAAATTGATTATTCTTCATACAGATTGTGATTACTTTATTATCATGGATAATTAAGAGTTAACACAAAAATAGCCCCCTTCACATTCTGAATTTTGGATCTTTAATATATAAAACTTAAGAATAAATCGTTTATGAGGAAAATATATCCCAGAATTTTACTACAATTTTTTAAAAATATATACTGGTTCACACATGCTTCCTTTATTTCACCAGTCATTATTACGTTGTACAAATATTTGTTGAGAGCCTACTATGAATAGGGACATAATGGCATTTTAAGTAAGTGGTTTATGGAGATTTTTGAT... | TATAACTGCAATATTAAATTGATTATTCTTCATACAGATTGTGATTACTTTATTATCATGGATAATTAAGAGTTAACACAAAAATAGCCCCCTTCACATTCTGAATTTTGGATCTTTAATATATAAAACTTAAGAATAAATCGTTTATGAGGAAAATATATCCCAGAATTTTACTACAATTTTTTAAAAATATATACTGGTTCACACATGCTTCCTTTATTTCACCAGTCATTATTACGTTGTACAAATATTTGTTGAGAGCCTACTATGAATAGGGACATAATGGCATTTTAAGTAAGTGGTTTATGGAGATTTTTGAT... | pathogenic | 331,841 |
Variant on chromosome X, at position 32343139, affecting DMD (dystrophin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Becker_muscular_dystrophy', 'Duchenne_muscular_dystrophy'] | GGAACTGACACTATCACAGAAGAAGTTCCCAAGAAGTCTCATACATGGGCTGAACCCTATGCAGTTATTATTTACATAGGGCAAAATGGTTGAGTATCTGTTTGATTCATATAATTCAACCTAACTTAACTATAAAGACTTAGTTTCCAGATTTTGACATCCTGGTTTTGTGAGGAGTACTTTCTTCTATAATTACAGATGATGATCATTCCTCTTCATCTTACAAGTGTTAATAATAGGAACAAAAATGTACCTGTCAGAAAACCTCTATGGTTTATACCTACTACAAATAAAGAAGTGAGACCAAGCTAACAATTCTG... | GGAACTGACACTATCACAGAAGAAGTTCCCAAGAAGTCTCATACATGGGCTGAACCCTATGCAGTTATTATTTACATAGGGCAAAATGGTTGAGTATCTGTTTGATTCATATAATTCAACCTAACTTAACTATAAAGACTTAGTTTCCAGATTTTGACATCCTGGTTTTGTGAGGAGTACTTTCTTCTATAATTACAGATGATGATCATTCCTCTTCATCTTACAAGTGTTAATAATAGGAACAAAAATGTACCTGTCAGAAAACCTCTATGGTTTATACCTACTACAAATAAAGAAGTGAGACCAAGCTAACAATTCTG... | pathogenic | 331,848 |
Mutation at chromosome X, position 32343165, within DMD (dystrophin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Duchenne_muscular_dystrophy'] | TCCCAAGAAGTCTCATACATGGGCTGAACCCTATGCAGTTATTATTTACATAGGGCAAAATGGTTGAGTATCTGTTTGATTCATATAATTCAACCTAACTTAACTATAAAGACTTAGTTTCCAGATTTTGACATCCTGGTTTTGTGAGGAGTACTTTCTTCTATAATTACAGATGATGATCATTCCTCTTCATCTTACAAGTGTTAATAATAGGAACAAAAATGTACCTGTCAGAAAACCTCTATGGTTTATACCTACTACAAATAAAGAAGTGAGACCAAGCTAACAATTCTGAATCGCCTTTTTAAAGAGAGAACCAT... | TCCCAAGAAGTCTCATACATGGGCTGAACCCTATGCAGTTATTATTTACATAGGGCAAAATGGTTGAGTATCTGTTTGATTCATATAATTCAACCTAACTTAACTATAAAGACTTAGTTTCCAGATTTTGACATCCTGGTTTTGTGAGGAGTACTTTCTTCTATAATTACAGATGATGATCATTCCTCTTCATCTTACAAGTGTTAATAATAGGAACAAAAATGTACCTGTCAGAAAACCTCTATGGTTTATACCTACTACAAATAAAGAAGTGAGACCAAGCTAACAATTCTGAATCGCCTTTTTAAAGAGAGAACCAT... | pathogenic | 331,851 |
Classify the chromosome X variant at position 32343175 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'] | TCTCATACATGGGCTGAACCCTATGCAGTTATTATTTACATAGGGCAAAATGGTTGAGTATCTGTTTGATTCATATAATTCAACCTAACTTAACTATAAAGACTTAGTTTCCAGATTTTGACATCCTGGTTTTGTGAGGAGTACTTTCTTCTATAATTACAGATGATGATCATTCCTCTTCATCTTACAAGTGTTAATAATAGGAACAAAAATGTACCTGTCAGAAAACCTCTATGGTTTATACCTACTACAAATAAAGAAGTGAGACCAAGCTAACAATTCTGAATCGCCTTTTTAAAGAGAGAACCATACACTTTCCA... | TCTCATACATGGGCTGAACCCTATGCAGTTATTATTTACATAGGGCAAAATGGTTGAGTATCTGTTTGATTCATATAATTCAACCTAACTTAACTATAAAGACTTAGTTTCCAGATTTTGACATCCTGGTTTTGTGAGGAGTACTTTCTTCTATAATTACAGATGATGATCATTCCTCTTCATCTTACAAGTGTTAATAATAGGAACAAAAATGTACCTGTCAGAAAACCTCTATGGTTTATACCTACTACAAATAAAGAAGTGAGACCAAGCTAACAATTCTGAATCGCCTTTTTAAAGAGAGAACCATACACTTTCCA... | pathogenic | 331,853 |
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