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 |
|---|---|---|---|---|---|
A mutation at chromosome position 153725284 on chromosome X in gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Adrenoleukodystrophy'] | CAGACTCATCCTGTTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCG... | CAGACTCATCCTGTTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCG... | pathogenic | 340,421 |
For chromosome X, position 153725297, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Adrenoleukodystrophy'] | TTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCC... | TTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCC... | pathogenic | 340,424 |
Mutation found at chromosome X position 153725364, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Adrenoleukodystrophy'] | TGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGG... | TGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGG... | pathogenic | 340,427 |
Determine if the mutation at chromosome X, position 153725495 in gene ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Adrenoleukodystrophy'] | CAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCA... | CAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCA... | pathogenic | 340,434 |
Located at chromosome X position 153725514, the variant affecting gene ABCD1 (ATP binding cassette subfamily D member 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Adrenoleukodystrophy'] | GCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCG... | GCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCG... | pathogenic | 340,435 |
Evaluate this variant at chromosome X, position 153725514, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Adrenoleukodystrophy'] | GCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCG... | GCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCG... | pathogenic | 340,436 |
A genetic variant at chromosome X, position 153725579, affecting gene ABCD1 (ATP binding cassette subfamily D member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Adrenoleukodystrophy'] | AACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCT... | AACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCT... | pathogenic | 340,444 |
Does the chromosome X mutation at position 153725760 within gene ABCD1 (ATP binding cassette subfamily D member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Adrenoleukodystrophy'] | GCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGC... | GCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGC... | pathogenic | 340,465 |
A genetic variant at chromosome X, position 153725986, affecting gene ABCD1 (ATP binding cassette subfamily D member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Adrenoleukodystrophy'] | AGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCT... | AGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCT... | pathogenic | 340,478 |
Considering the variant on chromosome X, location 153726135, involving gene ABCD1 (ATP binding cassette subfamily D member 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Adrenoleukodystrophy'] | TCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCC... | TCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCC... | pathogenic | 340,491 |
Clinical significance of chromosome X, position 153729221, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGG... | CCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGG... | benign | 340,498 |
Determine if the mutation at chromosome X, position 153729404 in gene ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Adrenoleukodystrophy'] | TTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGG... | TTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGG... | pathogenic | 340,508 |
Determine whether the variant at chromosome X, position 153736139, in gene ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Adrenoleukodystrophy'] | TGTGGGGAATCTAAGGATCAAGAAACTGAGAGTCAAGGCCATTGATGAGGGTCAGGGGTGCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTA... | TGTGGGGAATCTAAGGATCAAGAAACTGAGAGTCAAGGCCATTGATGAGGGTCAGGGGTGCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTA... | pathogenic | 340,511 |
Determine whether the variant at chromosome X, position 153736198, in gene ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Adrenoleukodystrophy', 'Inborn_genetic_diseases'] | GCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACT... | GCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACT... | pathogenic | 340,515 |
Is the genetic change at chromosome X, position 153736201, within gene ABCD1 (ATP binding cassette subfamily D member 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Adrenoleukodystrophy'] | GCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGG... | GCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGG... | pathogenic | 340,516 |
Gene ABCD1 (ATP binding cassette subfamily D member 1) variant at chromosome position 153736478 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Adrenoleukodystrophy'] | TCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGG... | TCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGG... | pathogenic | 340,530 |
The chromosome X, position 153736484 genetic variant in gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Adrenoleukodystrophy'] | GGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATT... | GGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATT... | pathogenic | 340,531 |
Evaluate if the mutation on chromosome X at position 153737177 in ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['ABCD1-related_disorder', 'Adrenoleukodystrophy'] | ATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTC... | ATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTC... | pathogenic | 340,537 |
Classify the chromosome X variant at position 153737192 affecting gene ABCD1 (ATP binding cassette subfamily D member 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Adrenoleukodystrophy'] | CACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGG... | CACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGG... | pathogenic | 340,538 |
Considering the genetic mutation at chromosome X, position 153737199, impacting ABCD1 (ATP binding cassette subfamily D member 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Adrenoleukodystrophy', 'likely other unspecified diseases'] | TCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGG... | TCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGG... | pathogenic | 340,539 |
Clinical classification of chromosome X, position 153737209, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Adrenoleukodystrophy'] | TTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCT... | TTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCT... | pathogenic | 340,541 |
A genetic variant at chromosome X, position 153740082, affecting gene ABCD1 (ATP binding cassette subfamily D member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGAT... | GGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGAT... | benign | 340,548 |
Gene mutation in ABCD1 (ATP binding cassette subfamily D member 1) at chromosome X, position 153740228—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Adrenoleukodystrophy'] | AAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCT... | AAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCT... | pathogenic | 340,559 |
Is the genetic change at chromosome X, position 153743023, within gene ABCD1 (ATP binding cassette subfamily D member 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Adrenoleukodystrophy'] | GCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAG... | GCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAG... | pathogenic | 340,583 |
Benign or pathogenic: chromosome X, position 153743286, gene ABCD1 (ATP binding cassette subfamily D member 1) variant? Disease(s) if pathogenic? | pathogenic; ['Adrenoleukodystrophy'] | GCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAA... | GCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAA... | pathogenic | 340,596 |
Evaluate if the mutation on chromosome X at position 153743495 in ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Adrenoleukodystrophy'] | CTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCA... | CTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCA... | pathogenic | 340,604 |
Considering the genetic mutation at chromosome X, position 153864035, impacting L1CAM (L1 cell adhesion molecule): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GAGGCCACTTGGATGTTGTGTGGTGGGTACCGAAGGCAGCGTGTGTATGGAGCTCCTGAAAGCCGGCCATGGGGTGGGCTGGGCGGCGGGAAGAGGCGGTGCTGCCAGAGTGCGATGCTGGGAGTGGGGGGACTCTGGGCTCTCCAGATGGCCTCCCCTGCCCCCGCGGCCAGTTTGCCCGGCTCCCATCCCGGTTGGAGCAGAGATGGCAAAGAAAAGACAGCAGATGGTGGGGACACCGAGTTCTGTTCCCAGTCCCAGCCAGGCTGGCTGGGGAGTGGCTGGGGGAGGGGGAAGGTGCCAACCCTGGTCCTGAGGAG... | GAGGCCACTTGGATGTTGTGTGGTGGGTACCGAAGGCAGCGTGTGTATGGAGCTCCTGAAAGCCGGCCATGGGGTGGGCTGGGCGGCGGGAAGAGGCGGTGCTGCCAGAGTGCGATGCTGGGAGTGGGGGGACTCTGGGCTCTCCAGATGGCCTCCCCTGCCCCCGCGGCCAGTTTGCCCGGCTCCCATCCCGGTTGGAGCAGAGATGGCAAAGAAAAGACAGCAGATGGTGGGGACACCGAGTTCTGTTCCCAGTCCCAGCCAGGCTGGCTGGGGAGTGGCTGGGGGAGGGGGAAGGTGCCAACCCTGGTCCTGAGGAG... | benign | 340,674 |
For chromosome X, position 153865450, gene L1CAM (L1 cell adhesion molecule): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['MASA_syndrome', 'X-linked_hydrocephalus_syndrome'] | AGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCA... | AGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCA... | pathogenic | 340,691 |
Does the variant on chromosome X at location 153868136 affecting gene L1CAM (L1 cell adhesion molecule) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTA... | GTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTA... | benign | 340,716 |
Is the genetic mutation found on chromosome X at position 153868578, within the gene L1CAM (L1 cell adhesion molecule), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['L1CAM-related_disorder', 'Spastic_paraplegia'] | TGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGT... | TGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGT... | pathogenic | 340,722 |
Variant chromosome X, position 153905886, gene AVPR2 (arginine vasopressin receptor 2): benign or pathogenic? Disease(s)? | pathogenic; ['Diabetes_insipidus,_nephrogenic,_X-linked', 'Inborn_genetic_diseases'] | CTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGG... | CTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGG... | pathogenic | 340,799 |
Does the chromosome X mutation at position 153905976 within gene AVPR2 (arginine vasopressin receptor 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Nephrogenic_diabetes_insipidus'] | GAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTG... | GAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTG... | pathogenic | 340,806 |
The mutation impacting AVPR2 (arginine vasopressin receptor 2) on chromosome X at position 153906058: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Nephrogenic_diabetes_insipidus'] | GCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGG... | GCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGG... | pathogenic | 340,811 |
Evaluate the clinical significance of the mutation at chromosome X, position 153906238 in gene AVPR2 (arginine vasopressin receptor 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Diabetes_insipidus,_nephrogenic,_X-linked'] | GCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGG... | GCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGG... | pathogenic | 340,817 |
Clinical significance of chromosome X, position 153906253, gene AVPR2 (arginine vasopressin receptor 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Diabetes_insipidus,_nephrogenic,_X-linked', 'Nephrogenic_diabetes_insipidus', 'Nephrogenic_syndrome_of_inappropriate_antidiuresis'] | TGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAG... | TGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAG... | pathogenic | 340,819 |
Gene AVPR2 (arginine vasopressin receptor 2) variant at chromosome X, position 153906274—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Nephrogenic_diabetes_insipidus'] | GTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGC... | GTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGC... | pathogenic | 340,821 |
The genetic variant at chromosome X, position 153906337, affecting gene AVPR2 (arginine vasopressin receptor 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Diabetes_insipidus,_nephrogenic,_X-linked'] | AGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGA... | AGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGA... | pathogenic | 340,823 |
Evaluate if the mutation on chromosome X at position 153906591 in AVPR2 (arginine vasopressin receptor 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | GGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGC... | GGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGC... | pathogenic | 340,828 |
Gene mutation in HCFC1 (host cell factor C1) at chromosome X, position 153951470—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TGGGCCCTGCACCACTGGAGGCCCTGCTGGTGCAGGGCCGGTTAGGGGCCCCCAGTCATTTGACAAGAGGCTGAACCCAGCTATTTCCACCCCTAGTCTCAGAAGGTTCCCGAGAGGGGCTTCCTGCTTACATTTCTGGAGAGGACATGGGCCGCTTGTTGGCTGGCTTGGTGCCAGAGCTGTCTTTACTGGTTTCTGGAAGGAACGGGAGAGATGCGTGAGCAGCATTGTGACAGAACGAGAGCAAGGAACACATGCGCCCTGCCCGCCTGCAGAGTCTCTTGGTGCCACATGGCATGACCCGCAGCTGGCAAGGGTGG... | TGGGCCCTGCACCACTGGAGGCCCTGCTGGTGCAGGGCCGGTTAGGGGCCCCCAGTCATTTGACAAGAGGCTGAACCCAGCTATTTCCACCCCTAGTCTCAGAAGGTTCCCGAGAGGGGCTTCCTGCTTACATTTCTGGAGAGGACATGGGCCGCTTGTTGGCTGGCTTGGTGCCAGAGCTGTCTTTACTGGTTTCTGGAAGGAACGGGAGAGATGCGTGAGCAGCATTGTGACAGAACGAGAGCAAGGAACACATGCGCCCTGCCCGCCTGCAGAGTCTCTTGGTGCCACATGGCATGACCCGCAGCTGGCAAGGGTGG... | benign | 340,895 |
Variant at chromosome X, position 154030268, gene MECP2 (methyl-CpG binding protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GTTTCTGGAAGCATAAGACTGCTGTCTCATTTGCTACTTTGATAAGGTACTTCTCAGTTGGACAGATTTAGATATAAGAGACATCTCTGTAAACACAGAAAAGGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAG... | GTTTCTGGAAGCATAAGACTGCTGTCTCATTTGCTACTTTGATAAGGTACTTCTCAGTTGGACAGATTTAGATATAAGAGACATCTCTGTAAACACAGAAAAGGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAG... | benign | 341,054 |
Evaluate this variant at chromosome X, position 154030370, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCT... | GGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCT... | pathogenic | 341,062 |
Is the chromosome X, position 154030374 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Rett_syndrome'] | ATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTG... | ATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTG... | pathogenic | 341,063 |
Variant chromosome X, position 154030411, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)? | pathogenic; ['Rett_syndrome', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | TTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAG... | TTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAG... | pathogenic | 341,074 |
Variant chromosome X, position 154030423, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)? | pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Syndromic_X-linked_intellectual_disability_Lubs_type'] | GGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCAT... | GGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCAT... | pathogenic | 341,075 |
Does the chromosome X mutation at position 154030493 within gene MECP2 (methyl-CpG binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAA... | CCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAA... | benign | 341,085 |
Variant chromosome X, position 154030518, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACT... | CAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACT... | pathogenic | 341,096 |
Variant at chromosome X, position 154030597, gene MECP2 (methyl-CpG binding protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Encephalopathy,_neonatal_severeMental_retardation,_X-linked,_syndromic_13Rett_syndrome', 'Rett_syndrome'] | GAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGG... | GAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGG... | pathogenic | 341,109 |
Mutation found at chromosome X position 154030612, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGC... | GCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGC... | benign | 341,112 |
Chromosome X, position 154030615, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAG... | GAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAG... | pathogenic | 341,115 |
Determine if the mutation at chromosome X, position 154030617 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Angelman_syndrome', 'Atypical_Rett_syndrome', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGAC... | GGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGAC... | pathogenic | 341,116 |
Does the chromosome X mutation at position 154030619 within gene MECP2 (methyl-CpG binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | AAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCT... | AAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCT... | pathogenic | 341,117 |
Is the chromosome X, position 154030620 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome'] | AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTT... | AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTT... | pathogenic | 341,120 |
Does the variant on chromosome X at location 154030620 affecting gene MECP2 (methyl-CpG binding protein 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Rett_syndrome'] | AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTT... | AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTT... | pathogenic | 341,121 |
Variant at chromosome position 154030620, chromosome X, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Delayed_gross_motor_development', 'Delayed_speech_and_language_development', 'Inborn_genetic_diseases', 'Loss_of_ambulation', 'MECP2-related_disorder', 'Rett_syndrome', 'Rett_syndrome,_zappella_variant', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Sm... | AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTT... | AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTT... | pathogenic | 341,122 |
Regarding the variant at chromosome X and position 154030621, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Rett_syndrome'] | GGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTG... | GGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTG... | pathogenic | 341,123 |
Evaluate if the mutation on chromosome X at position 154030622 in MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Rett_syndrome'] | GGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGC... | GGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGC... | pathogenic | 341,125 |
Clinical significance of chromosome X, position 154030627, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTC... | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTC... | pathogenic | 341,129 |
Clinical classification of chromosome X, position 154030627, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Rett_syndrome'] | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTC... | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTC... | pathogenic | 341,130 |
Located at chromosome X position 154030627, the variant affecting gene MECP2 (methyl-CpG binding protein 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Angelman_syndrome', 'MECP2-related_disorder', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTC... | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTC... | pathogenic | 341,131 |
Determine if the mutation at chromosome X, position 154030627 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Syndromic_X-linked_intellectual_disability_Lubs_type', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTC... | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTC... | pathogenic | 341,132 |
Does the variant on chromosome X at location 154030630 affecting gene MECP2 (methyl-CpG binding protein 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Rett_syndrome'] | ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCT... | ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCT... | pathogenic | 341,134 |
Evaluate if the mutation on chromosome X at position 154030630 in MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCT... | ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCT... | pathogenic | 341,135 |
The chromosome X, position 154030630 genetic variant in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Rett_syndrome', 'Rett_syndrome,_zappella_variant', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCT... | ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCT... | pathogenic | 341,136 |
A mutation at chromosome position 154030632 on chromosome X in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTG... | CCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTG... | pathogenic | 341,139 |
Does the chromosome X mutation at position 154030637 within gene MECP2 (methyl-CpG binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTT... | TACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTT... | pathogenic | 341,142 |
Assess the variant on chromosome X, position 154030639, impacting MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCA... | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCA... | pathogenic | 341,144 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 154030639, gene MECP2 (methyl-CpG binding protein 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome'] | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCA... | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCA... | pathogenic | 341,145 |
Variant chromosome X, position 154030639, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCA... | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCA... | pathogenic | 341,146 |
Determine whether the variant at chromosome X, position 154030639, in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCA... | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCA... | pathogenic | 341,147 |
Is the chromosome X, position 154030642 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Rett_syndrome'] | GTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAG... | GTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAG... | pathogenic | 341,149 |
Clinical classification of chromosome X, position 154030642, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Rett_syndrome'] | GTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAG... | GTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAG... | pathogenic | 341,150 |
Is the chromosome X, position 154030648 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Rett_syndrome'] | GCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGC... | GCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGC... | pathogenic | 341,152 |
Considering the variant on chromosome X, location 154030648, involving gene MECP2 (methyl-CpG binding protein 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGC... | GCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGC... | benign | 341,153 |
Is the chromosome X, position 154030653 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGT... | GGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGT... | pathogenic | 341,157 |
Variant on chromosome X, at position 154030654, affecting MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTC... | GTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTC... | benign | 341,158 |
A genetic variant at chromosome X, position 154030655, affecting gene MECP2 (methyl-CpG binding protein 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Neurodevelopmental_delay', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCG... | TCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCG... | pathogenic | 341,159 |
The mutation in gene MECP2 (methyl-CpG binding protein 2) at chromosome X, position 154030655—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCG... | TCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCG... | benign | 341,160 |
Is the variant located on chromosome X at position 154030656, gene MECP2 (methyl-CpG binding protein 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGG... | CTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGG... | pathogenic | 341,161 |
Does the variant on chromosome X at location 154030661 affecting gene MECP2 (methyl-CpG binding protein 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCA... | GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCA... | benign | 341,164 |
Determine if the mutation at chromosome X, position 154030661 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Rett_syndrome'] | GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCA... | GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCA... | pathogenic | 341,165 |
Variant at chromosome X, position 154030661, gene MECP2 (methyl-CpG binding protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCA... | GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCA... | benign | 341,166 |
The mutation impacting MECP2 (methyl-CpG binding protein 2) on chromosome X at position 154030664: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome'] | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCA... | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCA... | pathogenic | 341,168 |
Considering the variant on chromosome X, location 154030664, involving gene MECP2 (methyl-CpG binding protein 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCA... | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCA... | pathogenic | 341,169 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154030664, gene MECP2 (methyl-CpG binding protein 2): what disease(s) if pathogenic? | benign | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCA... | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCA... | benign | 341,170 |
Regarding the variant found on chromosome X at position 154030664 in gene MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Intellectual_disability', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCA... | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCA... | pathogenic | 341,171 |
Chromosome X, position 154030665, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | TCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAG... | TCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAG... | pathogenic | 341,173 |
Is the genetic mutation found on chromosome X at position 154030665, within the gene MECP2 (methyl-CpG binding protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAG... | TCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAG... | benign | 341,174 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154030671, gene MECP2 (methyl-CpG binding protein 2): what disease(s) if pathogenic? | pathogenic; ['Developmental_disorder', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCA... | TTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCA... | pathogenic | 341,180 |
Variant at chromosome position 154030672, chromosome X, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome'] | TGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAA... | TGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAA... | pathogenic | 341,181 |
Is the genetic change at chromosome X, position 154030680, within gene MECP2 (methyl-CpG binding protein 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Neurodevelopmental_delay', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCT... | CTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCT... | pathogenic | 341,186 |
Gene MECP2 (methyl-CpG binding protein 2) variant at chromosome position 154030685 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Syndromic_X-linked_intellectual_disability_Lubs_type'] | GCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGG... | GCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGG... | pathogenic | 341,188 |
Chromosome X, position 154030685, gene MECP2 (methyl-CpG binding protein 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Intellectual_disability', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | GCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGG... | GCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGG... | pathogenic | 341,189 |
For chromosome X, position 154030690, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | GCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAA... | GCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAA... | pathogenic | 341,192 |
Variant at chromosome X, position 154030690, gene MECP2 (methyl-CpG binding protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | GCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAA... | GCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAA... | pathogenic | 341,194 |
Mutation at chromosome X, position 154030710, within MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACT... | GGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACT... | benign | 341,206 |
A mutation at chromosome position 154030721 on chromosome X in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAG... | TGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAG... | benign | 341,208 |
The chromosome X, position 154030741 genetic variant in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Seizure', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | ATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTT... | ATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTT... | pathogenic | 341,211 |
Determine whether the variant at chromosome X, position 154030741, in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly'] | ATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTT... | ATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTT... | pathogenic | 341,212 |
Considering the variant on chromosome X, location 154030765, involving gene MECP2 (methyl-CpG binding protein 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Neurodevelopmental_delay', 'Rett_syndrome'] | ATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGT... | ATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGT... | pathogenic | 341,220 |
Clinical significance of chromosome X, position 154030798, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Rett_syndrome'] | TCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGG... | TCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGG... | pathogenic | 341,227 |
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