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 |
|---|---|---|---|---|---|
Clinical significance of chromosome X, position 101398079, gene GLA: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fabry_disease'] | TTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGGAGTTTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTCGTAA... | TTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGGAGTTTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTCGTAA... | pathogenic | 337,354 |
Variant at chromosome X, position 101398369, gene GLA: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Fabry_disease'] | TTTTTTTGAGACAGGGTCTCCCTCTCGTAAGTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTT... | TTTTTTTGAGACAGGGTCTCCCTCTCGTAAGTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTT... | pathogenic | 337,363 |
Determine if the mutation at chromosome X, position 101398399 in gene GLA is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Fabry_disease'] | GTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATA... | GTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATA... | pathogenic | 337,371 |
The chromosome X, position 101398406 genetic variant in gene GLA: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Fabry_disease'] | TGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTT... | TGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTT... | pathogenic | 337,375 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 101398466, gene GLA. What disease(s) is it linked to if pathogenic? | pathogenic; ['Fabry_disease'] | CAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTA... | CAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTA... | pathogenic | 337,378 |
The genetic variant at chromosome X, position 101398505, affecting gene GLA: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Fabry_disease'] | ATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAA... | ATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAA... | pathogenic | 337,392 |
A mutation at chromosome position 101398520 on chromosome X in gene GLA: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Fabry_disease'] | TAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCT... | TAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCT... | pathogenic | 337,396 |
Does the variant on chromosome X at location 101398543 affecting gene GLA have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Fabry_disease'] | CTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATT... | CTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATT... | pathogenic | 337,401 |
Variant on chromosome X, at position 101398568, affecting GLA: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fabry_disease'] | TCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCT... | TCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCT... | pathogenic | 337,406 |
A genetic alteration at chromosome X, position 101398803, in gene GLA—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Fabry_disease', 'GLA-related_disorder'] | AGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGG... | AGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGG... | pathogenic | 337,415 |
Evaluate this variant at chromosome X, position 101398808, gene GLA: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Fabry_disease'] | CTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGG... | CTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGG... | pathogenic | 337,420 |
A genetic alteration at chromosome X, position 101398866, in gene GLA—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Fabry_disease'] | GGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAA... | GGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAA... | pathogenic | 337,429 |
Evaluate if the mutation on chromosome X at position 101399798 in GLA is benign or pathogenic. Disease name(s) if pathogenic? | benign | TTAAAGTGAATGGAGAAAAAGGTGGACAGGAAGTAGTAGTTGGCAATAAAATAAACATTTTAAAGTAAGTCTTTTAATGACATCTGCATTGTATTTTCTAGCTGAAGCAAAACAGTGCCTGTGGGATTTATGTGACTTCTTAACCTTGAAGTCCATTCATAGAACCCTAGCTTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTCCTTTACCCAGGGAAGCAACTGCGATGGTATAAGAGCGAGGTCCACCAATCTCCTGCCGGTTTATCATAGCTACAGCCCAGGCTAAGCCTGAGAG... | TTAAAGTGAATGGAGAAAAAGGTGGACAGGAAGTAGTAGTTGGCAATAAAATAAACATTTTAAAGTAAGTCTTTTAATGACATCTGCATTGTATTTTCTAGCTGAAGCAAAACAGTGCCTGTGGGATTTATGTGACTTCTTAACCTTGAAGTCCATTCATAGAACCCTAGCTTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTCCTTTACCCAGGGAAGCAACTGCGATGGTATAAGAGCGAGGTCCACCAATCTCCTGCCGGTTTATCATAGCTACAGCCCAGGCTAAGCCTGAGAG... | benign | 337,457 |
Variant on chromosome X, at position 101400681, affecting GLA: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fabry_disease'] | CCCATATGGAGAAACCACTTTCCACAGCATCCTGCTCTAAGTACTCTCACATAAAGCCTCCTCCCAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGA... | CCCATATGGAGAAACCACTTTCCACAGCATCCTGCTCTAAGTACTCTCACATAAAGCCTCCTCCCAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGA... | pathogenic | 337,462 |
Mutation found at chromosome X position 101400744, gene GLA: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Fabry_disease'] | CCAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAACAGATATGACTCTTCTGTTTACTTTCTACTAACATCCTTGTGAGATGAAAACAGTTTAAA... | CCAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAACAGATATGACTCTTCTGTTTACTTTCTACTAACATCCTTGTGAGATGAAAACAGTTTAAA... | pathogenic | 337,473 |
Assess the variant on chromosome X, position 101401718, impacting GLA: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Fabry_disease'] | AACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCC... | AACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCC... | pathogenic | 337,491 |
Variant on chromosome X, at position 101401885, affecting GLA: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCAGGGAAAGAGCCATGACCCCTTGGACTTTGGGGAGGCAGGCAAGGGCTGGATCAGTGCAGTTTGGTTTCATTCCAAGTGCAATTGGAAGCGAGTTAAGGGTTTTAAGCAGGGA... | ATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCAGGGAAAGAGCCATGACCCCTTGGACTTTGGGGAGGCAGGCAAGGGCTGGATCAGTGCAGTTTGGTTTCATTCCAAGTGCAATTGGAAGCGAGTTAAGGGTTTTAAGCAGGGA... | benign | 337,512 |
For chromosome X, position 101403825, gene GLA: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Fabry_disease'] | ATAAATCCCTAGCTTCAGTCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACC... | ATAAATCCCTAGCTTCAGTCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACC... | pathogenic | 337,516 |
Gene mutation in GLA at chromosome X, position 101403884—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Fabry_disease'] | ACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTA... | ACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTA... | pathogenic | 337,524 |
Chromosome X, position 101403884, gene GLA: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiomyopathy', 'Fabry_disease'] | ACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTA... | ACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTA... | pathogenic | 337,525 |
Clinically, how would you classify the variant at chromosome X, position 101403903, gene GLA: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Fabry_disease'] | CGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTT... | CGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTT... | pathogenic | 337,530 |
A genetic variant at chromosome X, position 101407733, affecting gene GLA—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Fabry_disease'] | CCAAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGA... | CCAAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGA... | pathogenic | 337,548 |
Variant at chromosome X, position 101407749, gene GLA: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Fabry_disease'] | ACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACAT... | ACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACAT... | pathogenic | 337,551 |
Is the genetic variant on chromosome X, position 101407775, gene GLA, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Fabry_disease'] | CTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAA... | CTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAA... | pathogenic | 337,559 |
Evaluate if the mutation on chromosome X at position 101407818 in GLA is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Fabry_disease'] | ATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTG... | ATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTG... | pathogenic | 337,570 |
Variant at chromosome X, position 101407819, gene GLA: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Fabry_disease'] | TTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGT... | TTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGT... | pathogenic | 337,571 |
Mutation at chromosome X, position 101407823, within GLA: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Fabry_disease'] | CTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTC... | CTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTC... | pathogenic | 337,572 |
Determine whether the variant at chromosome X, position 101407831, in gene GLA is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Fabry_disease'] | GGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTAC... | GGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTAC... | pathogenic | 337,573 |
Variant at chromosome X, position 101407877, gene GLA: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Fabry_disease'] | AACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGC... | AACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGC... | pathogenic | 337,581 |
Evaluate if the mutation on chromosome X at position 101407885 in GLA is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Fabry_disease'] | AAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG... | AAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG... | pathogenic | 337,583 |
Mutation found at chromosome X position 103776997, gene PLP1: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_2', 'Pelizaeus-Merzbacher_disease'] | AAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCAT... | AAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCAT... | pathogenic | 337,637 |
Assess the variant on chromosome X, position 103786626, impacting PLP1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_spastic_paraplegia_2', 'Inborn_genetic_diseases', 'Pelizaeus-Merzbacher_disease'] | CAACAAATACACACGATGCTCAAAAATGTCCAGGAGCATCCAATTTCCAAAGTTTCCTCCACCTGGAATGCTCTTCATGCTAAAATCCTGTCTGACAATACCAGCATCTCTGGCCTGCACTCATCCCTTCCTGGAACTCCAAGTGCATTTACCCTCTGTTACCACTTACTTGGCTGCCTGAATTGTTAGTTGAAAATATTAGGTCTACTTAGCTAATTCTTCCTCAGGAAATTAAAGACTCCCATATGGCAGAGTCTGTGTCTTTTCTCTCTTCATATCCCGTATAACACCCAGCATAATGCTGGGCATATAGTGAGTAT... | CAACAAATACACACGATGCTCAAAAATGTCCAGGAGCATCCAATTTCCAAAGTTTCCTCCACCTGGAATGCTCTTCATGCTAAAATCCTGTCTGACAATACCAGCATCTCTGGCCTGCACTCATCCCTTCCTGGAACTCCAAGTGCATTTACCCTCTGTTACCACTTACTTGGCTGCCTGAATTGTTAGTTGAAAATATTAGGTCTACTTAGCTAATTCTTCCTCAGGAAATTAAAGACTCCCATATGGCAGAGTCTGTGTCTTTTCTCTCTTCATATCCCGTATAACACCCAGCATAATGCTGGGCATATAGTGAGTAT... | pathogenic | 337,645 |
Does the genetic variant at chromosome X, position 103789348, impacting gene PLP1, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_2'] | CCTTTGGCGGCTGAACATGTGTGGGTTCCAGCAATGTCTTTTTGTGGCCAGCAGTTAGCTTAGAAAGGTTTTGTATCTGAAATTTTAATCTCCTATTGGCTTTGTTCAATGGCTAGGGAACAAAAATGTTCCTATGGCAAGGAACATGTTCTAAGCTCAGCCTAAGGCACAAAATGGCACGACTTTCTTTCAAGATCTGTTTTGATTTCTTTACACCTTATCTGCCCAAAAACATCCTCTGAAGCCTCTCTAACCCAGGGATCCTCCTCACTCTTCCCCTACCCATTCCCCCCACCCTCCGTTATACTGGGGCCAGTTAT... | CCTTTGGCGGCTGAACATGTGTGGGTTCCAGCAATGTCTTTTTGTGGCCAGCAGTTAGCTTAGAAAGGTTTTGTATCTGAAATTTTAATCTCCTATTGGCTTTGTTCAATGGCTAGGGAACAAAAATGTTCCTATGGCAAGGAACATGTTCTAAGCTCAGCCTAAGGCACAAAATGGCACGACTTTCTTTCAAGATCTGTTTTGATTTCTTTACACCTTATCTGCCCAAAAACATCCTCTGAAGCCTCTCTAACCCAGGGATCCTCCTCACTCTTCCCCTACCCATTCCCCCCACCCTCCGTTATACTGGGGCCAGTTAT... | pathogenic | 337,669 |
Assess the variant on chromosome X, position 103789388, impacting PLP1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Pelizaeus-Merzbacher_disease'] | TTTGTGGCCAGCAGTTAGCTTAGAAAGGTTTTGTATCTGAAATTTTAATCTCCTATTGGCTTTGTTCAATGGCTAGGGAACAAAAATGTTCCTATGGCAAGGAACATGTTCTAAGCTCAGCCTAAGGCACAAAATGGCACGACTTTCTTTCAAGATCTGTTTTGATTTCTTTACACCTTATCTGCCCAAAAACATCCTCTGAAGCCTCTCTAACCCAGGGATCCTCCTCACTCTTCCCCTACCCATTCCCCCCACCCTCCGTTATACTGGGGCCAGTTATCTAGTAGATACTGCCAATTACCCTTGGCAGAGGTGCCCTG... | TTTGTGGCCAGCAGTTAGCTTAGAAAGGTTTTGTATCTGAAATTTTAATCTCCTATTGGCTTTGTTCAATGGCTAGGGAACAAAAATGTTCCTATGGCAAGGAACATGTTCTAAGCTCAGCCTAAGGCACAAAATGGCACGACTTTCTTTCAAGATCTGTTTTGATTTCTTTACACCTTATCTGCCCAAAAACATCCTCTGAAGCCTCTCTAACCCAGGGATCCTCCTCACTCTTCCCCTACCCATTCCCCCCACCCTCCGTTATACTGGGGCCAGTTATCTAGTAGATACTGCCAATTACCCTTGGCAGAGGTGCCCTG... | pathogenic | 337,671 |
For chromosome X, position 106839390, gene TBC1D8B (TBC1 domain family member 8B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | ATAATAAAAGGCAAACAACCCAATTTTAAAAATGGTTAAAGGATTTGAATAGACTTTTCTCCAAAGAAAATAAAGAAATGGCCAATAAGCACATTAAAAGATTTTTCATATCATTAGTCAATAGAGAAATGCAAATCAAAAGCATAATGAGATACCATTTCATACCCACTAGGGTGGCTATAATTAAAAAGAAATATAATACTGTTGAGGAGAATGTGAAGAATTGAAACTCTCATGTATTGCTGTTGGGAATGTAAAATGGTACAACCCTCCCACCCCATACTTTCTGTCCTCTAATAACCATCATTCCACTCTATACT... | ATAATAAAAGGCAAACAACCCAATTTTAAAAATGGTTAAAGGATTTGAATAGACTTTTCTCCAAAGAAAATAAAGAAATGGCCAATAAGCACATTAAAAGATTTTTCATATCATTAGTCAATAGAGAAATGCAAATCAAAAGCATAATGAGATACCATTTCATACCCACTAGGGTGGCTATAATTAAAAAGAAATATAATACTGTTGAGGAGAATGTGAAGAATTGAAACTCTCATGTATTGCTGTTGGGAATGTAAAATGGTACAACCCTCCCACCCCATACTTTCTGTCCTCTAATAACCATCATTCCACTCTATACT... | benign | 337,696 |
The chromosome X, position 106849220 genetic variant in gene TBC1D8B (TBC1 domain family member 8B): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GTAATAGTAAAAAATTTGAATTAACCTAAATGTCCAACAATAGTAGAATGGTTAAATAATTTATATTAGATCCACCTTAGATTTTTTTAGTCATTAAAAATACTGTTTTAGAAGAATATTTAGTGGCATTGAATATTACTATATAGTGCTAAGCAAAAAAATAAAGATTTAGTACACAGTGTGATACAAATTTTAGGAGAAAAAGGAAGAAAAAACTGCAGAAAAATATATCAACTTGTTAACAGTTTATTTCTGGGTACATAGGATACAAGAGGTTTTATTTTCTCATTCATACTTTTCCATTCTCTCCAAATTCTATC... | GTAATAGTAAAAAATTTGAATTAACCTAAATGTCCAACAATAGTAGAATGGTTAAATAATTTATATTAGATCCACCTTAGATTTTTTTAGTCATTAAAAATACTGTTTTAGAAGAATATTTAGTGGCATTGAATATTACTATATAGTGCTAAGCAAAAAAATAAAGATTTAGTACACAGTGTGATACAAATTTTAGGAGAAAAAGGAAGAAAAAACTGCAGAAAAATATATCAACTTGTTAACAGTTTATTTCTGGGTACATAGGATACAAGAGGTTTTATTTTCTCATTCATACTTTTCCATTCTCTCCAAATTCTATC... | benign | 337,700 |
Determine if the mutation at chromosome X, position 106849220 in gene TBC1D8B (TBC1 domain family member 8B) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GTAATAGTAAAAAATTTGAATTAACCTAAATGTCCAACAATAGTAGAATGGTTAAATAATTTATATTAGATCCACCTTAGATTTTTTTAGTCATTAAAAATACTGTTTTAGAAGAATATTTAGTGGCATTGAATATTACTATATAGTGCTAAGCAAAAAAATAAAGATTTAGTACACAGTGTGATACAAATTTTAGGAGAAAAAGGAAGAAAAAACTGCAGAAAAATATATCAACTTGTTAACAGTTTATTTCTGGGTACATAGGATACAAGAGGTTTTATTTTCTCATTCATACTTTTCCATTCTCTCCAAATTCTATC... | GTAATAGTAAAAAATTTGAATTAACCTAAATGTCCAACAATAGTAGAATGGTTAAATAATTTATATTAGATCCACCTTAGATTTTTTTAGTCATTAAAAATACTGTTTTAGAAGAATATTTAGTGGCATTGAATATTACTATATAGTGCTAAGCAAAAAAATAAAGATTTAGTACACAGTGTGATACAAATTTTAGGAGAAAAAGGAAGAAAAAACTGCAGAAAAATATATCAACTTGTTAACAGTTTATTTCTGGGTACATAGGATACAAGAGGTTTTATTTTCTCATTCATACTTTTCCATTCTCTCCAAATTCTATC... | benign | 337,701 |
Does the variant on chromosome X at location 107639276 affecting gene PRPS1 (phosphoribosyl pyrophosphate synthetase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TTCATACTTAGAGTAAATTCCTATGGAGTTACTTAGTAATTGGACCAGAGTACAGTTAACACAGAATGAGGGCAAGGACCACATTTTATTCACCATTGTTTCCCTAGCATCTAGTACAGTGATGAGCATATGAACATTTAATATTTACTGGGTAAATTGCCAGTATGGTAGAGGTGGTACTGTCTTTTGTTAAAGTGTCATTATAGAACAGTAGTGATTCACTCCTTATGATATTTCTACTTCTTTTGCTATTTATGGACTCTGTAACAGTAATAGGTGATGCATCAAATTTTATGTACATCACATGTACCTATATGAAA... | TTCATACTTAGAGTAAATTCCTATGGAGTTACTTAGTAATTGGACCAGAGTACAGTTAACACAGAATGAGGGCAAGGACCACATTTTATTCACCATTGTTTCCCTAGCATCTAGTACAGTGATGAGCATATGAACATTTAATATTTACTGGGTAAATTGCCAGTATGGTAGAGGTGGTACTGTCTTTTGTTAAAGTGTCATTATAGAACAGTAGTGATTCACTCCTTATGATATTTCTACTTCTTTTGCTATTTATGGACTCTGTAACAGTAATAGGTGATGCATCAAATTTTATGTACATCACATGTACCTATATGAAA... | benign | 337,725 |
For chromosome X, position 107915993, gene MID2: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CCAGGCTTCAAACAAGAGAGAACACACACACATCCACATAGTCTTTGCTTAGTTAACTCTTACTCATTACATAGGTCATTGGTGAAAATCGACTTCCACATGGGAGATTTCCCTTAGCTCCCAAGTCTCTTTAGATAACTCCTGTGTATGCTCTACTCCCTTTGTAGCAGCACTTCTATTGCCCACGTAATGTCTTTCTCCTTCATGATGTGTGAGCTCTTGAAGGCAAGAACCACAGCAAAGCTTGTTCACTTTGTGTATCTCCAGTGCCCAGTACAGTGCCTGGCACATTAGTTGTGCTTAATAAGTATTGGATAGAT... | CCAGGCTTCAAACAAGAGAGAACACACACACATCCACATAGTCTTTGCTTAGTTAACTCTTACTCATTACATAGGTCATTGGTGAAAATCGACTTCCACATGGGAGATTTCCCTTAGCTCCCAAGTCTCTTTAGATAACTCCTGTGTATGCTCTACTCCCTTTGTAGCAGCACTTCTATTGCCCACGTAATGTCTTTCTCCTTCATGATGTGTGAGCTCTTGAAGGCAAGAACCACAGCAAAGCTTGTTCACTTTGTGTATCTCCAGTGCCCAGTACAGTGCCTGGCACATTAGTTGTGCTTAATAAGTATTGGATAGAT... | benign | 337,753 |
Chromosome X, position 108190504, gene COL4A6 (collagen type IV alpha 6 chain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GATTGAAGGGCACTTGAAAGATTCCATTGCTTCCTCAGGGTCAAAGTTTGGCAAGACTTACTGGAGCCCCTGCTGGGCCCTGTGCACCCCCAGAGCCTCGATCTCCTCTGGCTCCTTTAAGGCCTGGAAGGCCTATGAGACCCCATGGACCAGGTGGGCCTGGTTCCCCGGGTGGTCCAGTGTTGGGAACACCACCGTCACAAGCACAGAAACCTGAGTCTCCTGGGAGAAAAAGACAACATAGAACGAAGTGGGTCATTTTTTTCCAAGAAGAATAAAGAATTGATCATGGTTATTTGTGACTTGAACAACTCCATAGA... | GATTGAAGGGCACTTGAAAGATTCCATTGCTTCCTCAGGGTCAAAGTTTGGCAAGACTTACTGGAGCCCCTGCTGGGCCCTGTGCACCCCCAGAGCCTCGATCTCCTCTGGCTCCTTTAAGGCCTGGAAGGCCTATGAGACCCCATGGACCAGGTGGGCCTGGTTCCCCGGGTGGTCCAGTGTTGGGAACACCACCGTCACAAGCACAGAAACCTGAGTCTCCTGGGAGAAAAAGACAACATAGAACGAAGTGGGTCATTTTTTTCCAAGAAGAATAAAGAATTGATCATGGTTATTTGTGACTTGAACAACTCCATAGA... | benign | 337,826 |
Classify the chromosome X variant at position 108192462 affecting gene COL4A6 (collagen type IV alpha 6 chain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GTTTCCTTTTGGACCTTGTTCTCCTCGGAGACCAGGGAACCCTGACTCTTTGTTGTGTAGAGTTTCAGTCTCAAATTCTGGACCTTTGGGTAAAAAAAAGATAAAGGATTAGCAACTTGTATAAGCCTGATGACTTCCCTGACTCAACACAGCAGCTCAATCACCAAGGCCCAAGTCCTTGAGGCTGAACAACAGAGCAGAGACAAAAAAATAAAATTCAAGACCGGGACCCCAAATCTGCAGCAAGGAGTCAACAGGACCTCTGTTGGCTCAATTCACTCTACTAATATTTACAGAATGTCCATTATGTTCCAGGCACC... | GTTTCCTTTTGGACCTTGTTCTCCTCGGAGACCAGGGAACCCTGACTCTTTGTTGTGTAGAGTTTCAGTCTCAAATTCTGGACCTTTGGGTAAAAAAAAGATAAAGGATTAGCAACTTGTATAAGCCTGATGACTTCCCTGACTCAACACAGCAGCTCAATCACCAAGGCCCAAGTCCTTGAGGCTGAACAACAGAGCAGAGACAAAAAAATAAAATTCAAGACCGGGACCCCAAATCTGCAGCAAGGAGTCAACAGGACCTCTGTTGGCTCAATTCACTCTACTAATATTTACAGAATGTCCATTATGTTCCAGGCACC... | benign | 337,827 |
Is the variant located on chromosome X at position 108196534, gene COL4A6 (collagen type IV alpha 6 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTCACTCTTCTACCTACCAACCCTGGATTTTTCACTTCCCAACATTACCTCAATTCCTTGGAATCCATTAAGCCCAGGAAATCCCAGGGTCCCTTTCTTGCCCTGTGACAGAAACATAGTTACCACTAAGTGGAAAGTATGAGAGCATAAGAGAGTCTGGTCTTTGGATTAAGCCAGGGCAAATGGCACAGGGATCTTGGATGACATTGCAGGGTATATGTGGCTTCTATCTGACTCTGGAAGCTGTAAAATCTTCCAGAAGACAATACGGCAGTAGGTAGCCAATTTACATATTAGGAGGTACAAGGGCCATAAGGCTA... | TTCACTCTTCTACCTACCAACCCTGGATTTTTCACTTCCCAACATTACCTCAATTCCTTGGAATCCATTAAGCCCAGGAAATCCCAGGGTCCCTTTCTTGCCCTGTGACAGAAACATAGTTACCACTAAGTGGAAAGTATGAGAGCATAAGAGAGTCTGGTCTTTGGATTAAGCCAGGGCAAATGGCACAGGGATCTTGGATGACATTGCAGGGTATATGTGGCTTCTATCTGACTCTGGAAGCTGTAAAATCTTCCAGAAGACAATACGGCAGTAGGTAGCCAATTTACATATTAGGAGGTACAAGGGCCATAAGGCTA... | benign | 337,832 |
Is the genetic mutation found on chromosome X at position 108196534, within the gene COL4A6 (collagen type IV alpha 6 chain), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTCACTCTTCTACCTACCAACCCTGGATTTTTCACTTCCCAACATTACCTCAATTCCTTGGAATCCATTAAGCCCAGGAAATCCCAGGGTCCCTTTCTTGCCCTGTGACAGAAACATAGTTACCACTAAGTGGAAAGTATGAGAGCATAAGAGAGTCTGGTCTTTGGATTAAGCCAGGGCAAATGGCACAGGGATCTTGGATGACATTGCAGGGTATATGTGGCTTCTATCTGACTCTGGAAGCTGTAAAATCTTCCAGAAGACAATACGGCAGTAGGTAGCCAATTTACATATTAGGAGGTACAAGGGCCATAAGGCTA... | TTCACTCTTCTACCTACCAACCCTGGATTTTTCACTTCCCAACATTACCTCAATTCCTTGGAATCCATTAAGCCCAGGAAATCCCAGGGTCCCTTTCTTGCCCTGTGACAGAAACATAGTTACCACTAAGTGGAAAGTATGAGAGCATAAGAGAGTCTGGTCTTTGGATTAAGCCAGGGCAAATGGCACAGGGATCTTGGATGACATTGCAGGGTATATGTGGCTTCTATCTGACTCTGGAAGCTGTAAAATCTTCCAGAAGACAATACGGCAGTAGGTAGCCAATTTACATATTAGGAGGTACAAGGGCCATAAGGCTA... | benign | 337,833 |
Mutation found at chromosome X position 108559072, gene COL4A5 (collagen type IV alpha 5 chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['X-linked_Alport_syndrome'] | AAATTTTTAGCTTATTCCTCTCTTATCTGTAGGCGAGATAGCAGTTTTGCTTCTGAGAAAATATGGCTTTCTTCAAGTATTATCCTCCAGTTTTGGCAGAGATATGCTGTAAATACCAGCTGAGATCCCAAAATGTACCTGTTTTCCCCTCATGAAAATCTACTGTAACTAGATTTTTTTTCCTTTGTGCTTTCTTTCTGACTGAAACTTGTGATCAGATTTCTACTACTAGCTCTGCCAGTAATAATTTGAGGGAATCTAGCTCTAAAAATTTTAAAACTTTTAATTTCTTCCTCTTGTTTTATTTCCTCAAAAACAAT... | AAATTTTTAGCTTATTCCTCTCTTATCTGTAGGCGAGATAGCAGTTTTGCTTCTGAGAAAATATGGCTTTCTTCAAGTATTATCCTCCAGTTTTGGCAGAGATATGCTGTAAATACCAGCTGAGATCCCAAAATGTACCTGTTTTCCCCTCATGAAAATCTACTGTAACTAGATTTTTTTTCCTTTGTGCTTTCTTTCTGACTGAAACTTGTGATCAGATTTCTACTACTAGCTCTGCCAGTAATAATTTGAGGGAATCTAGCTCTAAAAATTTTAAAACTTTTAATTTCTTCCTCTTGTTTTATTTCCTCAAAAACAAT... | pathogenic | 337,859 |
Clinical classification of chromosome X, position 108563924, gene COL4A5 (collagen type IV alpha 5 chain): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['X-linked_Alport_syndrome'] | AGAAGGGACCTGTGCTAAATTTCCCAAGTAGAACTTTAGTACTTAGAAAACAGCAGGACCCTGAATGTGTGCATACAATTTTGGTGGATGAACTACTCAGCTGAATTTCCTGTGTCTAATGGCACATCAAGAGCAAGAGCAACAGAATGATTCTTGTGCACCCAGGAGTAGCACAGAAGTATCAGAGATATCTGAAAGAGTCAAGTGGATGGAATTGAGCAGTAACTTGGCAGCAATCTATGCATACTATTGGCATGGAACAACTCAATGAATACCAGCTTGGACTACACTGTCACACTCCTCAACATATTGGAGCTAGT... | AGAAGGGACCTGTGCTAAATTTCCCAAGTAGAACTTTAGTACTTAGAAAACAGCAGGACCCTGAATGTGTGCATACAATTTTGGTGGATGAACTACTCAGCTGAATTTCCTGTGTCTAATGGCACATCAAGAGCAAGAGCAACAGAATGATTCTTGTGCACCCAGGAGTAGCACAGAAGTATCAGAGATATCTGAAAGAGTCAAGTGGATGGAATTGAGCAGTAACTTGGCAGCAATCTATGCATACTATTGGCATGGAACAACTCAATGAATACCAGCTTGGACTACACTGTCACACTCCTCAACATATTGGAGCTAGT... | pathogenic | 337,866 |
Chromosome X, position 108571813, gene COL4A5 (collagen type IV alpha 5 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['X-linked_Alport_syndrome'] | TGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGCACGCACCACAATGCCCAGCTAATTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAATTCCTGACCTCTTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGCGAGCCACCGCGCCCGGCCAGATCTTTCTAACTAATGGCATATGTCAGATTTTATATAGGGCATATTTTTAAAATAACTTGAACAACTATTTTGCATTACAGTGGCCATATTTTGTGATAATTA... | TGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGCACGCACCACAATGCCCAGCTAATTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAATTCCTGACCTCTTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGCGAGCCACCGCGCCCGGCCAGATCTTTCTAACTAATGGCATATGTCAGATTTTATATAGGGCATATTTTTAAAATAACTTGAACAACTATTTTGCATTACAGTGGCCATATTTTGTGATAATTA... | pathogenic | 337,886 |
The genetic variant at chromosome X, position 108573655, affecting gene COL4A5 (collagen type IV alpha 5 chain): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['X-linked_Alport_syndrome'] | AAGTTGGTAATATAGCTTTCTCCTGGGCAAAAGCAAGGATTTTGTATGTATATAAATGTCACCTCTAAGTATCCTAAGGTATATCCTATTCAGAAATGACGCTACAGCAGTCTACTCATTTTATACTCTATTTAGAAAGCATTCTGTAATTGGCGTGTTTCTCTCTCATACATATAAAATAATCCCTTTTCTTTTTAATAATAGGGACCCCCTGGGATCCCAGGTATGAAGGTAAGCATCTCATTCTGGGGAACAAATGTTTTGAATAAAATATTAGGAAAGCTGGCAACTTCAATAGGATAATGACTCAAACTTCTGTC... | AAGTTGGTAATATAGCTTTCTCCTGGGCAAAAGCAAGGATTTTGTATGTATATAAATGTCACCTCTAAGTATCCTAAGGTATATCCTATTCAGAAATGACGCTACAGCAGTCTACTCATTTTATACTCTATTTAGAAAGCATTCTGTAATTGGCGTGTTTCTCTCTCATACATATAAAATAATCCCTTTTCTTTTTAATAATAGGGACCCCCTGGGATCCCAGGTATGAAGGTAAGCATCTCATTCTGGGGAACAAATGTTTTGAATAAAATATTAGGAAAGCTGGCAACTTCAATAGGATAATGACTCAAACTTCTGTC... | pathogenic | 337,895 |
A genetic variant at chromosome X, position 108577952, affecting gene COL4A5 (collagen type IV alpha 5 chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['X-linked_Alport_syndrome'] | TAACAGGGCCTACCTGGTCCCACTGGTATACCAGGGCCAATTGGTCCCCCAGGACCACCAGGTTTGATGGTAAGCTCTCTTCTTTAATTTAATTTCCCCCCCTTTCCTTTCTGACTTCTTTCAGGAATATTAATATTATTTATAATACTTGAAAACATAATGCATTCTCAACATTCATAATTTATAATTTTCTTATGTAAAGGTGACTTTACAATGATATGGTGAATAATATGCATTCTAAGTAATGGCTCCATTTTATAGATGGAAAAATGAGGTATATAAAAGGAAAGATTTACAATGAAATATTTTGTTGGTTGCTC... | TAACAGGGCCTACCTGGTCCCACTGGTATACCAGGGCCAATTGGTCCCCCAGGACCACCAGGTTTGATGGTAAGCTCTCTTCTTTAATTTAATTTCCCCCCCTTTCCTTTCTGACTTCTTTCAGGAATATTAATATTATTTATAATACTTGAAAACATAATGCATTCTCAACATTCATAATTTATAATTTTCTTATGTAAAGGTGACTTTACAATGATATGGTGAATAATATGCATTCTAAGTAATGGCTCCATTTTATAGATGGAAAAATGAGGTATATAAAAGGAAAGATTTACAATGAAATATTTTGTTGGTTGCTC... | pathogenic | 337,904 |
Assess the variant on chromosome X, position 108578361, impacting COL4A5 (collagen type IV alpha 5 chain): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['X-linked_Alport_syndrome'] | AACTGCAATTGTTTGTTTAAGAAGAGCAAAAGCAGGGCTTCATAAAAAATATTGGCTCTCATTTCCTAGGCGCCTGGGACAAAACAGTAGAATTGGTGAGGGGAGTGATCACTATGCAATTGGTCACAGGTTTTTGTACCCCAAAAACTTCTACAGATCCTGAATGTGCAACCGGTTCTCTTACTTTACTAGCTCTGTAGTCACTCTTATTTTCTATCCTAGTAAATTCTAAGTATTTTTACTTCTGCAATACTTAGATTTCATTCAAGTCATGTTTTGGACTTACAGCTTTGCTGTTGCCCTCTTAAAAGGGCAAGAAA... | AACTGCAATTGTTTGTTTAAGAAGAGCAAAAGCAGGGCTTCATAAAAAATATTGGCTCTCATTTCCTAGGCGCCTGGGACAAAACAGTAGAATTGGTGAGGGGAGTGATCACTATGCAATTGGTCACAGGTTTTTGTACCCCAAAAACTTCTACAGATCCTGAATGTGCAACCGGTTCTCTTACTTTACTAGCTCTGTAGTCACTCTTATTTTCTATCCTAGTAAATTCTAAGTATTTTTACTTCTGCAATACTTAGATTTCATTCAAGTCATGTTTTGGACTTACAGCTTTGCTGTTGCCCTCTTAAAAGGGCAAGAAA... | pathogenic | 337,916 |
Considering the genetic mutation at chromosome X, position 108580964, impacting COL4A5 (collagen type IV alpha 5 chain): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTTCAGGCATAAGCCACCATGCCTGGCCAAGATCATTAAATTTTCAAAATAACTTTATCAAGATACAGTCTACATACATATAATCCACCCATTTAAAGTGTACAATTCAATTTTTTTTTTAGTGCATTCACAGGGTAGTGAAACTATCAGTGCAATCTAACTTTAGAAAATTCTGAGGCTTCCTCAAAAAAATCTCCATACCTATGTTAGTTGTACTCCTTATTTCTCCCCAAATTGACCAGCCCTAGGTAATCACTAATCTACTTCTTGGCTCTGTAAATTTTTC... | GATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTTCAGGCATAAGCCACCATGCCTGGCCAAGATCATTAAATTTTCAAAATAACTTTATCAAGATACAGTCTACATACATATAATCCACCCATTTAAAGTGTACAATTCAATTTTTTTTTTAGTGCATTCACAGGGTAGTGAAACTATCAGTGCAATCTAACTTTAGAAAATTCTGAGGCTTCCTCAAAAAAATCTCCATACCTATGTTAGTTGTACTCCTTATTTCTCCCCAAATTGACCAGCCCTAGGTAATCACTAATCTACTTCTTGGCTCTGTAAATTTTTC... | benign | 337,927 |
Clinically, how would you classify the variant at chromosome X, position 108581024, gene COL4A5 (collagen type IV alpha 5 chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['X-linked_Alport_syndrome'] | CCAAGATCATTAAATTTTCAAAATAACTTTATCAAGATACAGTCTACATACATATAATCCACCCATTTAAAGTGTACAATTCAATTTTTTTTTTAGTGCATTCACAGGGTAGTGAAACTATCAGTGCAATCTAACTTTAGAAAATTCTGAGGCTTCCTCAAAAAAATCTCCATACCTATGTTAGTTGTACTCCTTATTTCTCCCCAAATTGACCAGCCCTAGGTAATCACTAATCTACTTCTTGGCTCTGTAAATTTTTCTATTCTGAATATTTCATATAAATGGAATCATACAATATGTGGTCTTCTGTGTCTGGCTTC... | CCAAGATCATTAAATTTTCAAAATAACTTTATCAAGATACAGTCTACATACATATAATCCACCCATTTAAAGTGTACAATTCAATTTTTTTTTTAGTGCATTCACAGGGTAGTGAAACTATCAGTGCAATCTAACTTTAGAAAATTCTGAGGCTTCCTCAAAAAAATCTCCATACCTATGTTAGTTGTACTCCTTATTTCTCCCCAAATTGACCAGCCCTAGGTAATCACTAATCTACTTCTTGGCTCTGTAAATTTTTCTATTCTGAATATTTCATATAAATGGAATCATACAATATGTGGTCTTCTGTGTCTGGCTTC... | pathogenic | 337,934 |
The chromosome X, position 108584487 genetic variant in gene COL4A5 (collagen type IV alpha 5 chain): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['X-linked_Alport_syndrome'] | TCAAATAATGATAATTCTCTGGATATGGGGCTTTGAAGGAGCTCCAACCCTGTTCTTTCCTCTCCAATTGCTGCTAGGCTGCTGGTTTTCACCTTGATTGTGAGGAGAGGTGGTGTGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGAGGTGGTGGGAATAGAGCAAGTTAAAATGCCATAAATCTCTGAGAGGTGGTAGGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGTTCTCACCAAGATTCAGCTTTTTTTTTTTTTTTTTTTCTGAGAAAACACTCCTTGAATTGCTGCAAGCTTTGGTTAAGTTC... | TCAAATAATGATAATTCTCTGGATATGGGGCTTTGAAGGAGCTCCAACCCTGTTCTTTCCTCTCCAATTGCTGCTAGGCTGCTGGTTTTCACCTTGATTGTGAGGAGAGGTGGTGTGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGAGGTGGTGGGAATAGAGCAAGTTAAAATGCCATAAATCTCTGAGAGGTGGTAGGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGTTCTCACCAAGATTCAGCTTTTTTTTTTTTTTTTTTTCTGAGAAAACACTCCTTGAATTGCTGCAAGCTTTGGTTAAGTTC... | pathogenic | 337,942 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 108584530, gene COL4A5 (collagen type IV alpha 5 chain). What disease(s) is it linked to if pathogenic? | benign | CCAACCCTGTTCTTTCCTCTCCAATTGCTGCTAGGCTGCTGGTTTTCACCTTGATTGTGAGGAGAGGTGGTGTGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGAGGTGGTGGGAATAGAGCAAGTTAAAATGCCATAAATCTCTGAGAGGTGGTAGGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGTTCTCACCAAGATTCAGCTTTTTTTTTTTTTTTTTTTCTGAGAAAACACTCCTTGAATTGCTGCAAGCTTTGGTTAAGTTCTGAAAGTTAATTCTGACTGACCATTTTTGCCAGTATTCTCATT... | CCAACCCTGTTCTTTCCTCTCCAATTGCTGCTAGGCTGCTGGTTTTCACCTTGATTGTGAGGAGAGGTGGTGTGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGAGGTGGTGGGAATAGAGCAAGTTAAAATGCCATAAATCTCTGAGAGGTGGTAGGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGTTCTCACCAAGATTCAGCTTTTTTTTTTTTTTTTTTTCTGAGAAAACACTCCTTGAATTGCTGCAAGCTTTGGTTAAGTTCTGAAAGTTAATTCTGACTGACCATTTTTGCCAGTATTCTCATT... | benign | 337,945 |
Determine whether the variant at chromosome X, position 108586590, in gene COL4A5 (collagen type IV alpha 5 chain) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TAGTCTTCGTTTATCAAATTTATTAATGCATTATCATTTTTGTGCCTTAATCGCATACTCCCTACTTTTTCTTGATAGAACACAAAATTTCAAGTCATTATCAATTTCTACTGGCTTAAAAGTCTTTACATCTAAAATCTTCAGTAATGTTGACCTCAAGGTCTTTGTATTGTTCTGCCTATGCATTACTTCTGCATGGTAAAGGTCTAAAATTATGGCATTGGGTTGTTTTGCCTCATGATTGCCAGATCATTTCTCAAGCAACCAGCAGGTGGTGCAAGTGTTGCTTACAAAGGTTCAATGAAAACAACAACAACAAA... | TAGTCTTCGTTTATCAAATTTATTAATGCATTATCATTTTTGTGCCTTAATCGCATACTCCCTACTTTTTCTTGATAGAACACAAAATTTCAAGTCATTATCAATTTCTACTGGCTTAAAAGTCTTTACATCTAAAATCTTCAGTAATGTTGACCTCAAGGTCTTTGTATTGTTCTGCCTATGCATTACTTCTGCATGGTAAAGGTCTAAAATTATGGCATTGGGTTGTTTTGCCTCATGATTGCCAGATCATTTCTCAAGCAACCAGCAGGTGGTGCAAGTGTTGCTTACAAAGGTTCAATGAAAACAACAACAACAAA... | benign | 337,948 |
Evaluate if the mutation on chromosome X at position 108586664 in COL4A5 (collagen type IV alpha 5 chain) is benign or pathogenic. Disease name(s) if pathogenic? | benign | ATAGAACACAAAATTTCAAGTCATTATCAATTTCTACTGGCTTAAAAGTCTTTACATCTAAAATCTTCAGTAATGTTGACCTCAAGGTCTTTGTATTGTTCTGCCTATGCATTACTTCTGCATGGTAAAGGTCTAAAATTATGGCATTGGGTTGTTTTGCCTCATGATTGCCAGATCATTTCTCAAGCAACCAGCAGGTGGTGCAAGTGTTGCTTACAAAGGTTCAATGAAAACAACAACAACAAAACAAAACTTGGGGAAGTTGGGGTGGGGGTGGGGGATTGGTCCTTTCCCCTGCAGAGCTCAGGAGAAAGATAGAT... | ATAGAACACAAAATTTCAAGTCATTATCAATTTCTACTGGCTTAAAAGTCTTTACATCTAAAATCTTCAGTAATGTTGACCTCAAGGTCTTTGTATTGTTCTGCCTATGCATTACTTCTGCATGGTAAAGGTCTAAAATTATGGCATTGGGTTGTTTTGCCTCATGATTGCCAGATCATTTCTCAAGCAACCAGCAGGTGGTGCAAGTGTTGCTTACAAAGGTTCAATGAAAACAACAACAACAAAACAAAACTTGGGGAAGTTGGGGTGGGGGTGGGGGATTGGTCCTTTCCCCTGCAGAGCTCAGGAGAAAGATAGAT... | benign | 337,952 |
Determine whether the variant at chromosome X, position 108597457, in gene COL4A5 (collagen type IV alpha 5 chain) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['X-linked_Alport_syndrome'] | TGGAAATGCTGTCCCTTAGTGCTAACATTTTTAGAACCTATCTATAGAAGGTATATGTACCCCTTTCAGTAAAATTTGTTTGTTATTATGATTTCACTAGGTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAAATTATGCCTCAGGGTAACCTTCTAAATATTTTTTGGCTAGATTTTGTTGAGCTTATACTTTTAGAATGTTACCAGTTTCTCATTTTATAACTAGTCACTCATATCTATAAAGAATTAAGTATG... | TGGAAATGCTGTCCCTTAGTGCTAACATTTTTAGAACCTATCTATAGAAGGTATATGTACCCCTTTCAGTAAAATTTGTTTGTTATTATGATTTCACTAGGTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAAATTATGCCTCAGGGTAACCTTCTAAATATTTTTTGGCTAGATTTTGTTGAGCTTATACTTTTAGAATGTTACCAGTTTCTCATTTTATAACTAGTCACTCATATCTATAAAGAATTAAGTATG... | pathogenic | 337,996 |
Clinical classification of chromosome X, position 108601450, gene COL4A5 (collagen type IV alpha 5 chain): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['X-linked_Alport_syndrome'] | TGGCTATAGTGTATTCATTTTTATTGCTATATAGTATTTCATTGTATGTATGTTTATGTGTGTGTGTGTGTGTGTGTTACAGTTGATTGATCCATTCTATGGTTAATGGTTAATTGGGTTATTTACAGTTCAGGTCTATTATGAATAATGCTTCTGTTTACAGTCATATAGATAGATAGCTAGGTAGATAGATAGATCCCTATATCTCCTTGTGTTCATGTGCTCACACTTCTCTAGGGCAAGAGTTGGCACACTACAGAACTACAGTCCATGGACCACATCCAGCCTACCACCTGTTATAAATAAAAGTTTTATGTGAA... | TGGCTATAGTGTATTCATTTTTATTGCTATATAGTATTTCATTGTATGTATGTTTATGTGTGTGTGTGTGTGTGTGTTACAGTTGATTGATCCATTCTATGGTTAATGGTTAATTGGGTTATTTACAGTTCAGGTCTATTATGAATAATGCTTCTGTTTACAGTCATATAGATAGATAGCTAGGTAGATAGATAGATCCCTATATCTCCTTGTGTTCATGTGCTCACACTTCTCTAGGGCAAGAGTTGGCACACTACAGAACTACAGTCCATGGACCACATCCAGCCTACCACCTGTTATAAATAAAAGTTTTATGTGAA... | pathogenic | 338,021 |
Variant chromosome X, position 108601898, gene COL4A5 (collagen type IV alpha 5 chain): benign or pathogenic? Disease(s)? | pathogenic; ['X-linked_Alport_syndrome'] | CTTACCAATACCTGGGCTAGGGTATGTATTTAAGATTAGCATTTTCAAAGCATAGGATAAGTGCATCTTCCACTTGACTGGATAATTACAAACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAGTACTTTGACCAAT... | CTTACCAATACCTGGGCTAGGGTATGTATTTAAGATTAGCATTTTCAAAGCATAGGATAAGTGCATCTTCCACTTGACTGGATAATTACAAACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAGTACTTTGACCAAT... | pathogenic | 338,028 |
Assess the variant on chromosome X, position 108601955, impacting COL4A5 (collagen type IV alpha 5 chain): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['X-linked_Alport_syndrome'] | TAAGTGCATCTTCCACTTGACTGGATAATTACAAACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAGTACTTTGACCAATTTTATATTGGATTATTTCTTTTTTTATTGATTTAGAGGAGTTCTTTATATATTCTGT... | TAAGTGCATCTTCCACTTGACTGGATAATTACAAACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAGTACTTTGACCAATTTTATATTGGATTATTTCTTTTTTTATTGATTTAGAGGAGTTCTTTATATATTCTGT... | pathogenic | 338,032 |
Regarding the variant at chromosome X and position 108606789, affecting gene COL4A5 (collagen type IV alpha 5 chain): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic | TGTTTCATCAACATGGAAAATCTGTTGTTTAGTGTAGTCACTTTCATCAATGATCTTAGCTAGAACTTGCTGCAGCTTCTATATCAAAACTTGCTGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGG... | TGTTTCATCAACATGGAAAATCTGTTGTTTAGTGTAGTCACTTTCATCAATGATCTTAGCTAGAACTTGCTGCAGCTTCTATATCAAAACTTGCTGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGG... | pathogenic | 338,041 |
Mutation at chromosome X, position 108614978, within COL4A5 (collagen type IV alpha 5 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['X-linked_Alport_syndrome'] | AACATAATAGAGAGTCTAGAAATACACCCACATATTTAATTTTTGACAAAGTTGCTAAGGCAATCTCAACAGAAAGGTAAGTCTTTTCAACAAATGTTGCTAAAATATAAAGCAATTGGACATCCATATGCAAAAAAAAATATAAACAAACCAACATAACAAACCTCTACCTGCACTTCCTACCTTGCACAAAATTTAACTCCCAATGGATCACAGACCTAAATGTAAAACCTAACATTATCAAACTTCTGGAACAGAAGCAGGCAAACTTTTTCTGCAAAGAGCTAGAGAGTAAATATTTTAGTCTTTATGGGCTACAT... | AACATAATAGAGAGTCTAGAAATACACCCACATATTTAATTTTTGACAAAGTTGCTAAGGCAATCTCAACAGAAAGGTAAGTCTTTTCAACAAATGTTGCTAAAATATAAAGCAATTGGACATCCATATGCAAAAAAAAATATAAACAAACCAACATAACAAACCTCTACCTGCACTTCCTACCTTGCACAAAATTTAACTCCCAATGGATCACAGACCTAAATGTAAAACCTAACATTATCAAACTTCTGGAACAGAAGCAGGCAAACTTTTTCTGCAAAGAGCTAGAGAGTAAATATTTTAGTCTTTATGGGCTACAT... | pathogenic | 338,055 |
Is the genetic variant on chromosome X, position 108620349, gene COL4A5 (collagen type IV alpha 5 chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['X-linked_Alport_syndrome'] | ATAACGATGAAGAAAGAAATCCTTGCCTAGTGCATGCAAGTTGTTTCTCCATAATCATATGCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAA... | ATAACGATGAAGAAAGAAATCCTTGCCTAGTGCATGCAAGTTGTTTCTCCATAATCATATGCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAA... | pathogenic | 338,068 |
Gene COL4A5 (collagen type IV alpha 5 chain) variant at chromosome position 108622686 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Inborn_genetic_diseases', 'X-linked_Alport_syndrome'] | AACCCCAAAACTTAATGATTTTAACCAACCTTTTAATTTTGCTGAAGATTTTGCAGCTCTAGAATTAAGGGATGACTTGACTGGTTCATTTATCTCTAACCCACGTTGCCCCAGCTGGAGTGTTTGGGACTGAAAGGTCTACTTCTAAGATGGCACTTCTCTGACATCTGGGTGTTCATTAGCTCACATGTCATCTCATCGTCCATGGTACCTCTTCGCATGGCTTAGGCTCCTCACATTATGGTAGTATAAGGCTGGTTGCTCCCCTTCCATGGCAGCTGGCTTCCAACAGAGAGAATCCCACAAGAGAAAAGTGAGTG... | AACCCCAAAACTTAATGATTTTAACCAACCTTTTAATTTTGCTGAAGATTTTGCAGCTCTAGAATTAAGGGATGACTTGACTGGTTCATTTATCTCTAACCCACGTTGCCCCAGCTGGAGTGTTTGGGACTGAAAGGTCTACTTCTAAGATGGCACTTCTCTGACATCTGGGTGTTCATTAGCTCACATGTCATCTCATCGTCCATGGTACCTCTTCGCATGGCTTAGGCTCCTCACATTATGGTAGTATAAGGCTGGTTGCTCCCCTTCCATGGCAGCTGGCTTCCAACAGAGAGAATCCCACAAGAGAAAAGTGAGTG... | pathogenic | 338,082 |
Gene COL4A5 (collagen type IV alpha 5 chain) variant at chromosome X, position 108624275—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Inborn_genetic_diseases'] | CACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCCTGCCACCACGCCCGGCTAATATTTTTTTGTATTTTTAATAGAGAAGGATTTTCACCATGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCCGTCTGGATTAAGCATTAATTTTTTTATAGTCGGCCTCTATCGTTGTCAAGGAATTCCAGATGGAGGGATTGTTATCTGAGTATAAAAATGTGTATGCACTCAAGTAATTCATAGAGTACA... | CACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCCTGCCACCACGCCCGGCTAATATTTTTTTGTATTTTTAATAGAGAAGGATTTTCACCATGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCCGTCTGGATTAAGCATTAATTTTTTTATAGTCGGCCTCTATCGTTGTCAAGGAATTCCAGATGGAGGGATTGTTATCTGAGTATAAAAATGTGTATGCACTCAAGTAATTCATAGAGTACA... | pathogenic | 338,093 |
Mutation found at chromosome X position 108624276, gene COL4A5 (collagen type IV alpha 5 chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['X-linked_Alport_syndrome'] | ACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCCTGCCACCACGCCCGGCTAATATTTTTTTGTATTTTTAATAGAGAAGGATTTTCACCATGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCCGTCTGGATTAAGCATTAATTTTTTTATAGTCGGCCTCTATCGTTGTCAAGGAATTCCAGATGGAGGGATTGTTATCTGAGTATAAAAATGTGTATGCACTCAAGTAATTCATAGAGTACAT... | ACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCCTGCCACCACGCCCGGCTAATATTTTTTTGTATTTTTAATAGAGAAGGATTTTCACCATGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCCGTCTGGATTAAGCATTAATTTTTTTATAGTCGGCCTCTATCGTTGTCAAGGAATTCCAGATGGAGGGATTGTTATCTGAGTATAAAAATGTGTATGCACTCAAGTAATTCATAGAGTACAT... | pathogenic | 338,094 |
Variant on chromosome X, at position 108625757, affecting COL4A5 (collagen type IV alpha 5 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['X-linked_Alport_syndrome'] | TATGAGCAGGATTTGGTGGGATTTTTCCTCAAAAAAGAATTAAAAATATTAATGCAGTGTTGTATATAGTCAAGAAAGAGGCAGGGTCACCTAATTTTTTATGGAATGACTTTCTTGGCTTACCCCTTGCAAGGCTTCTTTTCTGTTTCAATTATGCTTCCTGTATAATAGGGGCAGTAAACTATACTTGACCTCTACTATAGGCTTATTAAATATAGTCAGAATCTAAGAGATAACCTAGAGATTATCTGTCCTTATTCCTTATTTCTTCATTTCCATTGTAAGAAAATGAGGCCCAAAATAGGAAAGTGATTTCACTA... | TATGAGCAGGATTTGGTGGGATTTTTCCTCAAAAAAGAATTAAAAATATTAATGCAGTGTTGTATATAGTCAAGAAAGAGGCAGGGTCACCTAATTTTTTATGGAATGACTTTCTTGGCTTACCCCTTGCAAGGCTTCTTTTCTGTTTCAATTATGCTTCCTGTATAATAGGGGCAGTAAACTATACTTGACCTCTACTATAGGCTTATTAAATATAGTCAGAATCTAAGAGATAACCTAGAGATTATCTGTCCTTATTCCTTATTTCTTCATTTCCATTGTAAGAAAATGAGGCCCAAAATAGGAAAGTGATTTCACTA... | pathogenic | 338,103 |
Classify the chromosome X variant at position 108655450 affecting gene COL4A5 (collagen type IV alpha 5 chain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic | GCTACTAAGTGACTCATAGACAGGTAGTGTTTATAGCATGGATATGCTGGGGAAAGGAGTAGTTCAGGTTTCGAGAGGGATGGAATGGGACAACATGACATTTTATCATGCTACACAAAATGGCGTGCAATTAAAAACATAAATTATTTATTTCTGGAATTTTCAATATTTTCAGAACACAGGTGACTGAAACCATGGATAGCAAAACCATGGATAAGGAAGAATTTCTGTACTTTTAGAATTTAATGTCCTTTAGTATCATAAATAATCCAGAGTTTGCCTTCTGCCTTTCAGATTTACCACTAGCAGAATAGTGGAAT... | GCTACTAAGTGACTCATAGACAGGTAGTGTTTATAGCATGGATATGCTGGGGAAAGGAGTAGTTCAGGTTTCGAGAGGGATGGAATGGGACAACATGACATTTTATCATGCTACACAAAATGGCGTGCAATTAAAAACATAAATTATTTATTTCTGGAATTTTCAATATTTTCAGAACACAGGTGACTGAAACCATGGATAGCAAAACCATGGATAAGGAAGAATTTCTGTACTTTTAGAATTTAATGTCCTTTAGTATCATAAATAATCCAGAGTTTGCCTTCTGCCTTTCAGATTTACCACTAGCAGAATAGTGGAAT... | pathogenic | 338,131 |
Does the variant impacting COL4A5 (collagen type IV alpha 5 chain) on chromosome X, position 108665514, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['X-linked_Alport_syndrome'] | CTAATTCAGGAACAGAAAACCAAACACTGCATGTTCTCACTGACATGTGGGAGCTGAACAATGAGAATACATGGACACAGGAAGGGGAACAACACACACTGTGGCCTGTGGAGCAGGGTGTTTGGGTCAGGGGGATGGAGAGCATCAGGAAAAATAGCTAAGGCATGCTGGGCTTAATTCTTAGGTGATGGTTTGATAGGTACAGCAAACCACCATGACACACGTTTACCTGTGTAACAAACCTGCACATCCTGCATACGTACCCCAGAACTTAAAATAAAAAAAAAAAAGATGCCAGTTGCCTCTAAAGTCATTCATAG... | CTAATTCAGGAACAGAAAACCAAACACTGCATGTTCTCACTGACATGTGGGAGCTGAACAATGAGAATACATGGACACAGGAAGGGGAACAACACACACTGTGGCCTGTGGAGCAGGGTGTTTGGGTCAGGGGGATGGAGAGCATCAGGAAAAATAGCTAAGGCATGCTGGGCTTAATTCTTAGGTGATGGTTTGATAGGTACAGCAAACCACCATGACACACGTTTACCTGTGTAACAAACCTGCACATCCTGCATACGTACCCCAGAACTTAAAATAAAAAAAAAAAAGATGCCAGTTGCCTCTAAAGTCATTCATAG... | pathogenic | 338,133 |
Is the variant located on chromosome X at position 108667158, gene COL4A5 (collagen type IV alpha 5 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['X-linked_Alport_syndrome'] | ATTTATAATAGATAAAAGCTGGAAATAAAACAGGTTTTTATAAATAGGAAAGTGGATATTTGTAATAACTAAAACCTGTCAATAAACCAAAAGTCCAGCAAGAGGAATGGATTTTTTAAGTTATGGTATATTCATATAATGGAGTCCTACAAATCCTACCAGTATAATATGGTGGTAGTTATTTTTATGTTTATGAATATATAATAATGCCAACTTCAGGATAAATGGTTAAAAACATAAAATTATTATTAAAAATAGCCAACAAACACCAGCATCTTTTGGGTTTCTTTTTGTTCTTCACTGTTTCTATGCTAGCACTA... | ATTTATAATAGATAAAAGCTGGAAATAAAACAGGTTTTTATAAATAGGAAAGTGGATATTTGTAATAACTAAAACCTGTCAATAAACCAAAAGTCCAGCAAGAGGAATGGATTTTTTAAGTTATGGTATATTCATATAATGGAGTCCTACAAATCCTACCAGTATAATATGGTGGTAGTTATTTTTATGTTTATGAATATATAATAATGCCAACTTCAGGATAAATGGTTAAAAACATAAAATTATTATTAAAAATAGCCAACAAACACCAGCATCTTTTGGGTTTCTTTTTGTTCTTCACTGTTTCTATGCTAGCACTA... | pathogenic | 338,147 |
Variant at chromosome X, position 108667163, gene COL4A5 (collagen type IV alpha 5 chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['X-linked_Alport_syndrome'] | TAATAGATAAAAGCTGGAAATAAAACAGGTTTTTATAAATAGGAAAGTGGATATTTGTAATAACTAAAACCTGTCAATAAACCAAAAGTCCAGCAAGAGGAATGGATTTTTTAAGTTATGGTATATTCATATAATGGAGTCCTACAAATCCTACCAGTATAATATGGTGGTAGTTATTTTTATGTTTATGAATATATAATAATGCCAACTTCAGGATAAATGGTTAAAAACATAAAATTATTATTAAAAATAGCCAACAAACACCAGCATCTTTTGGGTTTCTTTTTGTTCTTCACTGTTTCTATGCTAGCACTATAAAT... | TAATAGATAAAAGCTGGAAATAAAACAGGTTTTTATAAATAGGAAAGTGGATATTTGTAATAACTAAAACCTGTCAATAAACCAAAAGTCCAGCAAGAGGAATGGATTTTTTAAGTTATGGTATATTCATATAATGGAGTCCTACAAATCCTACCAGTATAATATGGTGGTAGTTATTTTTATGTTTATGAATATATAATAATGCCAACTTCAGGATAAATGGTTAAAAACATAAAATTATTATTAAAAATAGCCAACAAACACCAGCATCTTTTGGGTTTCTTTTTGTTCTTCACTGTTTCTATGCTAGCACTATAAAT... | pathogenic | 338,148 |
Classify the chromosome X variant at position 108680927 affecting gene COL4A5 (collagen type IV alpha 5 chain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['X-linked_Alport_syndrome'] | ATCTCTTTAGCCTTCTTTAATCTGAAACAGTTCCTAAGTTTATTTTCTTTTTTTCATGACCTCGACATTTTTAAGAAATTGTACCACCACCCCCATTTTTAAATAGAATATTCCTTTTTTGCCTGATGTTTATTCATAATTAGATTCAGGTTATGCATCCCCAGCTGGAATACTACATGAGTGGTTCTGTGTCCTTCTCAGGCTAACCGATAAGGAGGTCCATGATGTCTATCTGCTTCTCATTTGTGGTTTTAGTTTTAATCATCCAGTCAAGTTGTTGCTCAGTTTCTCCACTGCATCATTAGGTTTTTCCTTGCAAC... | ATCTCTTTAGCCTTCTTTAATCTGAAACAGTTCCTAAGTTTATTTTCTTTTTTTCATGACCTCGACATTTTTAAGAAATTGTACCACCACCCCCATTTTTAAATAGAATATTCCTTTTTTGCCTGATGTTTATTCATAATTAGATTCAGGTTATGCATCCCCAGCTGGAATACTACATGAGTGGTTCTGTGTCCTTCTCAGGCTAACCGATAAGGAGGTCCATGATGTCTATCTGCTTCTCATTTGTGGTTTTAGTTTTAATCATCCAGTCAAGTTGTTGCTCAGTTTCTCCACTGCATCATTAGGTTTTTCCTTGCAAC... | pathogenic | 338,178 |
Does the variant impacting COL4A5 (collagen type IV alpha 5 chain) on chromosome X, position 108681776, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['X-linked_Alport_syndrome'] | GCTGAGGGGGGATGATTGTTTGAGCCTAGGAGTTTGAGGCCAGCCTGGGCATCATAGTGAGATCCTATCTCTATAGAAAAGAAAGAAAAAACAAAGAATAAAATAATAGTTACCTTTCATTAAGTACACACCACACACCAGTCTTCTAAGCACTTAATATTGTCAGCAAAAGACAATGAGATCTAGAGGAGAAAAAGGAAGAGCTTTATTTTCTGTAAAAAGTAATCTGCGGATTGGGAAGGCACAGCTTTCTGTACAAGCGAAAGTGTGATCTCTGAAGAACAAAGGGAGGGTTTGGCTTAAGTAGGGAAAGTTCTCAC... | GCTGAGGGGGGATGATTGTTTGAGCCTAGGAGTTTGAGGCCAGCCTGGGCATCATAGTGAGATCCTATCTCTATAGAAAAGAAAGAAAAAACAAAGAATAAAATAATAGTTACCTTTCATTAAGTACACACCACACACCAGTCTTCTAAGCACTTAATATTGTCAGCAAAAGACAATGAGATCTAGAGGAGAAAAAGGAAGAGCTTTATTTTCTGTAAAAAGTAATCTGCGGATTGGGAAGGCACAGCTTTCTGTACAAGCGAAAGTGTGATCTCTGAAGAACAAAGGGAGGGTTTGGCTTAAGTAGGGAAAGTTCTCAC... | pathogenic | 338,184 |
Is the variant located on chromosome X at position 108687506, gene COL4A5 (collagen type IV alpha 5 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['X-linked_Alport_syndrome'] | TGTTAGAAAAATTTATAATGAAATGAAAATGCATTTAAGATCTGGTGCTTTCTGTACATCATCCAGCAGAAAGATTGAAGGCTGATTTGGTGGGCTATCAGTTTCCCACTGTGAAGCCCCTTGTCTTTTAAACTAACTGGTGTCTAGCTGGCCATTTGACTCTACGTTTATAGCCAACTTTCATTAATCATTATAAAAGAAAACTAGAACTAACTTCAGTCTTTTGCTCTTATTAAGTGATCAAGTGACAGTCTTATCAAAAACAAAGTATACCTGGCAGTAACTTATGGTGGAATAGAAAACGAAAGTTGGGACTTACA... | TGTTAGAAAAATTTATAATGAAATGAAAATGCATTTAAGATCTGGTGCTTTCTGTACATCATCCAGCAGAAAGATTGAAGGCTGATTTGGTGGGCTATCAGTTTCCCACTGTGAAGCCCCTTGTCTTTTAAACTAACTGGTGTCTAGCTGGCCATTTGACTCTACGTTTATAGCCAACTTTCATTAATCATTATAAAAGAAAACTAGAACTAACTTCAGTCTTTTGCTCTTATTAAGTGATCAAGTGACAGTCTTATCAAAAACAAAGTATACCTGGCAGTAACTTATGGTGGAATAGAAAACGAAAGTTGGGACTTACA... | pathogenic | 338,198 |
Is the genetic change at chromosome X, position 108687542, within gene COL4A5 (collagen type IV alpha 5 chain) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['X-linked_Alport_syndrome'] | AAGATCTGGTGCTTTCTGTACATCATCCAGCAGAAAGATTGAAGGCTGATTTGGTGGGCTATCAGTTTCCCACTGTGAAGCCCCTTGTCTTTTAAACTAACTGGTGTCTAGCTGGCCATTTGACTCTACGTTTATAGCCAACTTTCATTAATCATTATAAAAGAAAACTAGAACTAACTTCAGTCTTTTGCTCTTATTAAGTGATCAAGTGACAGTCTTATCAAAAACAAAGTATACCTGGCAGTAACTTATGGTGGAATAGAAAACGAAAGTTGGGACTTACATTCTTGTCTGATTCTGAAGACAAAGAGAGCACAACT... | AAGATCTGGTGCTTTCTGTACATCATCCAGCAGAAAGATTGAAGGCTGATTTGGTGGGCTATCAGTTTCCCACTGTGAAGCCCCTTGTCTTTTAAACTAACTGGTGTCTAGCTGGCCATTTGACTCTACGTTTATAGCCAACTTTCATTAATCATTATAAAAGAAAACTAGAACTAACTTCAGTCTTTTGCTCTTATTAAGTGATCAAGTGACAGTCTTATCAAAAACAAAGTATACCTGGCAGTAACTTATGGTGGAATAGAAAACGAAAGTTGGGACTTACATTCTTGTCTGATTCTGAAGACAAAGAGAGCACAACT... | pathogenic | 338,202 |
A genetic variant on chromosome X, position 108692836, affects the gene COL4A5 (collagen type IV alpha 5 chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['X-linked_Alport_syndrome'] | CCGTTAGATCCAGCAATCCCATTACTGGATATTTACCCAAAGGAAAATAGTATATCAAAGAGATAGTTACACTGACATGTTTATTGTAGCACTATTCACAATAGCAAAGATATGGAATCAACCTAAGTATCCAACAAAGGATGAATGGATAAAGAAGATGTGGTATATATACACAATGGAATATTATTCAGCCATATAAAAAATGAAATCATGTCATTTGCAGCAACATGGTTGGAACTGGAAGTCATTATCTTAAGTGAAATAAGCCAGGCACAAAAAAAACAAGTATCACATGTTCTCACGTATATATGGGAGCTAAA... | CCGTTAGATCCAGCAATCCCATTACTGGATATTTACCCAAAGGAAAATAGTATATCAAAGAGATAGTTACACTGACATGTTTATTGTAGCACTATTCACAATAGCAAAGATATGGAATCAACCTAAGTATCCAACAAAGGATGAATGGATAAAGAAGATGTGGTATATATACACAATGGAATATTATTCAGCCATATAAAAAATGAAATCATGTCATTTGCAGCAACATGGTTGGAACTGGAAGTCATTATCTTAAGTGAAATAAGCCAGGCACAAAAAAAACAAGTATCACATGTTCTCACGTATATATGGGAGCTAAA... | pathogenic | 338,210 |
Regarding the variant at chromosome X and position 108694846, affecting gene COL4A5 (collagen type IV alpha 5 chain): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['X-linked_Alport_syndrome'] | TGCAACATCAATAATGTTTGCAACTTTGCTTCAAGAAATGACTATTCTTACTGGCTCTCTACCCCAGAGCCCATGCCAATGAGCATGCAACCCCTAAAGGGCCAGAGCATCCAGCCATTCATTAGTCGGTAAGGCATTGATTTAGCTGTGACTTTTACCAATCCCCAGTTAGTTAGCTAGTCAGATTTGAGTCCAAAGCTAACAATCTGATGATATTCCTCCTAGGTTAGGTAGAACAGAGGTACCTCTTAATATTCAATTAAGTATTTAGTTTGACTCATATTTATTGGGGGTCTGCTTTTGACCAGGCCCCCATGATA... | TGCAACATCAATAATGTTTGCAACTTTGCTTCAAGAAATGACTATTCTTACTGGCTCTCTACCCCAGAGCCCATGCCAATGAGCATGCAACCCCTAAAGGGCCAGAGCATCCAGCCATTCATTAGTCGGTAAGGCATTGATTTAGCTGTGACTTTTACCAATCCCCAGTTAGTTAGCTAGTCAGATTTGAGTCCAAAGCTAACAATCTGATGATATTCCTCCTAGGTTAGGTAGAACAGAGGTACCTCTTAATATTCAATTAAGTATTTAGTTTGACTCATATTTATTGGGGGTCTGCTTTTGACCAGGCCCCCATGATA... | pathogenic | 338,220 |
Is the variant located on chromosome X at position 111401009, gene DCX (doublecortin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Lissencephaly_type_1_due_to_doublecortin_gene_mutation', 'Subcortical_laminar_heterotopia,_X-linked'] | AAAATTAGCCGGGTATTGCAGCGTGCGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATC... | AAAATTAGCCGGGTATTGCAGCGTGCGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATC... | pathogenic | 338,337 |
Variant in gene DCX (doublecortin), located at chromosome X position 111401013: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Abnormal_cortical_gyration'] | TTAGCCGGGTATTGCAGCGTGCGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCA... | TTAGCCGGGTATTGCAGCGTGCGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCA... | pathogenic | 338,338 |
For chromosome X, position 111401216, gene DCX (doublecortin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Lissencephaly_type_1_due_to_doublecortin_gene_mutation'] | ATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCC... | ATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCC... | pathogenic | 338,353 |
Determine if the mutation at chromosome X, position 111401216 in gene DCX (doublecortin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Lissencephaly_type_1_due_to_doublecortin_gene_mutation'] | ATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCC... | ATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCC... | pathogenic | 338,354 |
Clinical significance of chromosome X, position 111708952, gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit): benign or pathogenic? Name the disease(s) if pathogenic. | benign | ACTACTGGATCCACAGATACAAAAAAAAAAAAAAAAGGAAAAAACAATTTTGAAAGCAGCTTAATGTTGTGCCTTCTCTAAAGCCAGCTTTTGACCTATTTATTTTTAATACTTAAAAAATGTAAGAAAGGAATTGGATTTTTGCATTTAAATAAAAATAAAAGACACTAGATAGTATAGATAATAGGAACAAATAAAACAAGCAATTGGGCCTGCCTTTGGCACTTAGTATTTTCTTTGGTTTTCTCAGAATCCAGAGTAATGTGTCTGGAAAAGTACACTAGTAAAACATTGAAACACATCTCTCATTGTCCAACTCA... | ACTACTGGATCCACAGATACAAAAAAAAAAAAAAAAGGAAAAAACAATTTTGAAAGCAGCTTAATGTTGTGCCTTCTCTAAAGCCAGCTTTTGACCTATTTATTTTTAATACTTAAAAAATGTAAGAAAGGAATTGGATTTTTGCATTTAAATAAAAATAAAAGACACTAGATAGTATAGATAATAGGAACAAATAAAACAAGCAATTGGGCCTGCCTTTGGCACTTAGTATTTTCTTTGGTTTTCTCAGAATCCAGAGTAATGTGTCTGGAAAAGTACACTAGTAAAACATTGAAACACATCTCTCATTGTCCAACTCA... | benign | 338,395 |
Variant on chromosome X, at position 111730405, affecting ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CATCAGGCCAGTGAAGTAGACCAATTTGGTTTTGGCGTCTCTCTCTGTTCCAGTAGCTTAGTTCTGAAAGATTTATATAAGTTCTTAATGCTTGCTGGGTTTTTGAATATGTCCTGGTATTTCTCAGAAGAGTAGACTTCTATTTCATTAGGCTGCTACATTGTTATAACTTGTTTTCAGCTCTCTGCATAGGTCTTTAGTGAGTTTTGACTTGGTGTCAGATATCAGTATGGAAAACATCTATTCGTTGTTAGTAGGGCACTATTGATAGTTGTCCTCACCATTTGTATATGTTAGGCTTTTCGTGTGACTGGCTATTA... | CATCAGGCCAGTGAAGTAGACCAATTTGGTTTTGGCGTCTCTCTCTGTTCCAGTAGCTTAGTTCTGAAAGATTTATATAAGTTCTTAATGCTTGCTGGGTTTTTGAATATGTCCTGGTATTTCTCAGAAGAGTAGACTTCTATTTCATTAGGCTGCTACATTGTTATAACTTGTTTTCAGCTCTCTGCATAGGTCTTTAGTGAGTTTTGACTTGGTGTCAGATATCAGTATGGAAAACATCTATTCGTTGTTAGTAGGGCACTATTGATAGTTGTCCTCACCATTTGTATATGTTAGGCTTTTCGTGTGACTGGCTATTA... | benign | 338,446 |
Regarding the variant found on chromosome X at position 111730589 in gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CTGCATAGGTCTTTAGTGAGTTTTGACTTGGTGTCAGATATCAGTATGGAAAACATCTATTCGTTGTTAGTAGGGCACTATTGATAGTTGTCCTCACCATTTGTATATGTTAGGCTTTTCGTGTGACTGGCTATTATTTTTTAAGACTACTATGAAGTAACTATTCGATAGTTACTTCATACTATGAAGTCTATTTGATCTATAAACATTACTCTTTATTGAACCCTACGTGATACCCACTCTACTAAGTCATTATATTCATAATATAGTCCTTCGTGTGCTCTTCTGAGGAATGTGCTGTCCCTATTTTACATATGAGG... | CTGCATAGGTCTTTAGTGAGTTTTGACTTGGTGTCAGATATCAGTATGGAAAACATCTATTCGTTGTTAGTAGGGCACTATTGATAGTTGTCCTCACCATTTGTATATGTTAGGCTTTTCGTGTGACTGGCTATTATTTTTTAAGACTACTATGAAGTAACTATTCGATAGTTACTTCATACTATGAAGTCTATTTGATCTATAAACATTACTCTTTATTGAACCCTACGTGATACCCACTCTACTAAGTCATTATATTCATAATATAGTCCTTCGTGTGCTCTTCTGAGGAATGTGCTGTCCCTATTTTACATATGAGG... | benign | 338,450 |
Is chromosome X, position 111744725, gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TTAGTTTTGGTAGCCCCTTAAATTTTGCACTGGAGCATCTCACCACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATT... | TTAGTTTTGGTAGCCCCTTAAATTTTGCACTGGAGCATCTCACCACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATT... | benign | 338,458 |
The mutation in gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) at chromosome X, position 111744725—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTAGTTTTGGTAGCCCCTTAAATTTTGCACTGGAGCATCTCACCACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATT... | TTAGTTTTGGTAGCCCCTTAAATTTTGCACTGGAGCATCTCACCACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATT... | benign | 338,459 |
Evaluate the clinical significance of the mutation at chromosome X, position 111744725 in gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTAGTTTTGGTAGCCCCTTAAATTTTGCACTGGAGCATCTCACCACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATT... | TTAGTTTTGGTAGCCCCTTAAATTTTGCACTGGAGCATCTCACCACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATT... | benign | 338,460 |
Gene mutation in ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) at chromosome X, position 111744765—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CACCACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGC... | CACCACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGC... | benign | 338,468 |
Assess the variant on chromosome X, position 111744768, impacting ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | benign | 338,469 |
Considering the variant on chromosome X, location 111744768, involving gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | benign | 338,470 |
Does the genetic variant at chromosome X, position 111744768, impacting gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | benign | 338,471 |
For chromosome X, position 111744768, gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | benign | 338,472 |
A genetic variant on chromosome X, position 111744768, affects the gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | benign | 338,474 |
Variant at chromosome position 111744768, chromosome X, gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | benign | 338,475 |
Variant at chromosome X, position 111744768, gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | benign | 338,476 |
The chromosome X, position 111744768 genetic variant in gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | CACACCTTGGCCTTGGCCCTGGTCTGTGATTTCTAGAGAAGCAGCAGTATCTTATTGTATATATTTATGTTCTCTTCTGAAGTGTCCTGAAGCAGACTACAGCTACATGGATGGGGGAAATCAGCATTCTGAATGCATTACGTTGATTTCTACTAGTATTTTAGAAGACGTTTCTATAATTCTTGAGACATCCCTTGAAGTGTATCTGTTAAGCCTGTGGAGCTCTTCTTAAGTCTGAGGATGAGAAGCTCATGCATCTCTATAGAAACTTGAAATTGTAAAAGCTTTTACTTAGAGGGTTTATTGTAATACTGTGCATT... | benign | 338,477 |
Variant in AMOT (angiomotin), chromosome X, position 112779450—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GTTGAGGATACTGCTGCAATCCACCTCTCCCCCGACTGCAGCATAGTACTTTGGGTTTCTCAAGCTATTCCCTTGGAGGTGATAGTCAAAAATGCCTTTTAAGACATATGCTTAGAATTTGACAAACAAAACAAGTTATTTCAAAGTAGTCACCAGAAATTCAAAGCATTCAACCTGTCAACAAAGATCCTTCCTCACTTTGCAAATGATTGGCAATTTGAGACTGGAGACCCAGCCAGTGAATCTGTGCTGTAGAAGAAATAAACACTAAGCTGATTGGTCTTACTAAATGCAAGCAAGCTGTGTTCATGGCTACACAC... | GTTGAGGATACTGCTGCAATCCACCTCTCCCCCGACTGCAGCATAGTACTTTGGGTTTCTCAAGCTATTCCCTTGGAGGTGATAGTCAAAAATGCCTTTTAAGACATATGCTTAGAATTTGACAAACAAAACAAGTTATTTCAAAGTAGTCACCAGAAATTCAAAGCATTCAACCTGTCAACAAAGATCCTTCCTCACTTTGCAAATGATTGGCAATTTGAGACTGGAGACCCAGCCAGTGAATCTGTGCTGTAGAAGAAATAAACACTAAGCTGATTGGTCTTACTAAATGCAAGCAAGCTGTGTTCATGGCTACACAC... | benign | 338,505 |
Considering the genetic mutation at chromosome X, position 115622402, impacting PLS3 (plastin 3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bone_mineral_density_quantitative_trait_locus_18'] | GCCACATGATTTGCTTCCCTTACCTCATGGAAGTCTTCATTCAAATATAACCTCATCAAAGTGGCCTTCCTTACCCATTCTGTCTAAGTAGTAGCACCACCACCATCCCTGCCCCCCAATATCTCTATAACCCAGGGTTACTCAACTTCAGCACAATTGACATTTTAAGCTGCATAACTCTTGTGTTGTACATACAAGGAAGGGGTCATATCCATTGTAAGATATTTAGAAGCATCCCCAGCCTCTACGCACTGTATGCCAGGTGCTTCCAGTTATGGCAATCAAAAATGTCCCCTGGGGGCAAGATAGCCCCAGTCTAA... | GCCACATGATTTGCTTCCCTTACCTCATGGAAGTCTTCATTCAAATATAACCTCATCAAAGTGGCCTTCCTTACCCATTCTGTCTAAGTAGTAGCACCACCACCATCCCTGCCCCCCAATATCTCTATAACCCAGGGTTACTCAACTTCAGCACAATTGACATTTTAAGCTGCATAACTCTTGTGTTGTACATACAAGGAAGGGGTCATATCCATTGTAAGATATTTAGAAGCATCCCCAGCCTCTACGCACTGTATGCCAGGTGCTTCCAGTTATGGCAATCAAAAATGTCCCCTGGGGGCAAGATAGCCCCAGTCTAA... | pathogenic | 338,518 |
Gene PLS3 (plastin 3) variant at chromosome X, position 115636815—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | ATTAATACAGGGTATTAATTTCCTCATTGAATGTTATTTTCAGTGAAGGGAGAAAGTAGACTGCTAAAAAATGGAAAGGTCAAGAAGCAAGTGTGTAATTTGGCTGTCTTGCAGGAAAACTTGAACTTGGCACTGAACTCTGCTTCTGCCATTGGGTGTCATGTTGTGAACATTGGTGCAGAAGATTTGAGGGCTGGGAAACCTCATCTGGTTTTGGGACTGCTTTGGCAGATCATTAAGATCGGTTTGTTCGCTGACATTGAATTAAGCAGGAATGAAGGTAATGGAACACAGTCATTCTGGCAGTTGTTTATTGGTTA... | ATTAATACAGGGTATTAATTTCCTCATTGAATGTTATTTTCAGTGAAGGGAGAAAGTAGACTGCTAAAAAATGGAAAGGTCAAGAAGCAAGTGTGTAATTTGGCTGTCTTGCAGGAAAACTTGAACTTGGCACTGAACTCTGCTTCTGCCATTGGGTGTCATGTTGTGAACATTGGTGCAGAAGATTTGAGGGCTGGGAAACCTCATCTGGTTTTGGGACTGCTTTGGCAGATCATTAAGATCGGTTTGTTCGCTGACATTGAATTAAGCAGGAATGAAGGTAATGGAACACAGTCATTCTGGCAGTTGTTTATTGGTTA... | benign | 338,523 |
Mutation found at chromosome X position 115646098, gene PLS3 (plastin 3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic | TATTTAGGGTTAGACCACTTTTTAATCCTCTCACCAGGAAAAAGTGCACATATGCATTCAGTTTGACCTGTAAATTTAGCATATATTTATGTTTCATTCATCCACAGTCAATGTAACTGGAACTAACCCCAACTCCTTTCACCTTTACCTCCTCAAGAAACAAATGATAATATATACTAATTTTTTTTTAAGTTTTGGAAAGGCAGAGTTTACCTTTTCCAGATTATATATGTGTGAAGCGTAGTCTATAAAAATTAAGAAATGCAGCCAGGCGCGGTGGCTCACGACTGTAATCCCAGCACTTTGGGAGGCCAAGGTGG... | TATTTAGGGTTAGACCACTTTTTAATCCTCTCACCAGGAAAAAGTGCACATATGCATTCAGTTTGACCTGTAAATTTAGCATATATTTATGTTTCATTCATCCACAGTCAATGTAACTGGAACTAACCCCAACTCCTTTCACCTTTACCTCCTCAAGAAACAAATGATAATATATACTAATTTTTTTTTAAGTTTTGGAAAGGCAGAGTTTACCTTTTCCAGATTATATATGTGTGAAGCGTAGTCTATAAAAATTAAGAAATGCAGCCAGGCGCGGTGGCTCACGACTGTAATCCCAGCACTTTGGGAGGCCAAGGTGG... | pathogenic | 338,531 |
Evaluate the clinical significance of the mutation at chromosome X, position 119565276 in gene STEEP1 (STING1 ER exit protein 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Intellectual_disability,_X-linked_107'] | GTAGTAGCTTGGACTACAGTGTTAGAAGTGGAGGTGGTAGGCCGGCCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAAGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAAGAAGAGCGAAACTCCATCT... | GTAGTAGCTTGGACTACAGTGTTAGAAGTGGAGGTGGTAGGCCGGCCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAAGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAAGAAGAGCGAAACTCCATCT... | pathogenic | 338,561 |
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