ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_31400 | A variant on Chromosome X in gene GABRA3 (gamma-aminobutyric acid type A receptor subunit alpha3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Inborn genetic diseases | ATTCAGAAAGGGTTTAATAAACAGCAGCTAAACATTGCACCAAAGCATTTGGAAACACAATTTCTACAGAGAGGCAAAGATCAGGCTTCCATTCTAAGTTCCTTAAGACAACCATTAACAGCCCCGCCCTCCCACCCCCCATATCCCCACATATCCACAAGACTACACTCTTCTAGTCATGAATTTACCTACAGACACAGTCTTAGGAATAATGGGACGGGCATGCATTATCCCAGCAATGGCAAGGAAGCAGGGGACGGGGAAAGGATGGATGAAAAGGCAACCAGCAGCTAATGATACACCCCTTAGGAGCTTTGTTC... | ATTCAGAAAGGGTTTAATAAACAGCAGCTAAACATTGCACCAAAGCATTTGGAAACACAATTTCTACAGAGAGGCAAAGATCAGGCTTCCATTCTAAGTTCCTTAAGACAACCATTAACAGCCCCGCCCTCCCACCCCCCATATCCCCACATATCCACAAGACTACACTCTTCTAGTCATGAATTTACCTACAGACACAGTCTTAGGAATAATGGGACGGGCATGCATTATCCCAGCAATGGCAAGGAAGCAGGGGACGGGGAAAGGATGGATGAAAAGGCAACCAGCAGCTAATGATACACCCCTTAGGAGCTTTGTTC... |
Task1_train_31401 | A variant was discovered on Chromosome X, affecting GABRA3 (gamma-aminobutyric acid type A receptor subunit alpha3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | GCTAAAGATGACACCAACCGCGGTTTACCAAAATGAAGTGGGAGTGGGGTCTGATTGGGCAGCCAAGGATTGGTCTCAAGAGTTGATGCCAGGTGGGCAGTGCCCAGGACAGACGGGGAGGTGAGGGGAGTGAACAGATACAGGGACTTCTCTTGCTTGCTCACTCTGAGGAGGAAATCCCTGCAGCAGCAAGGGTGGGCCTTCAGCCTCTAGGGCCCAGCTGTGCAGTGCACCACTTTGGGCCACGTGATGCTGCAGCCTCAGCCTCCTCCTGGGGCCCCCTCTTTTCCCTTAAGTTGGGGTGGGGAAGGGAGGGGAAA... | GCTAAAGATGACACCAACCGCGGTTTACCAAAATGAAGTGGGAGTGGGGTCTGATTGGGCAGCCAAGGATTGGTCTCAAGAGTTGATGCCAGGTGGGCAGTGCCCAGGACAGACGGGGAGGTGAGGGGAGTGAACAGATACAGGGACTTCTCTTGCTTGCTCACTCTGAGGAGGAAATCCCTGCAGCAGCAAGGGTGGGCCTTCAGCCTCTAGGGCCCAGCTGTGCAGTGCACCACTTTGGGCCACGTGATGCTGCAGCCTCAGCCTCCTCCTGGGGCCCCCTCTTTTCCCTTAAGTTGGGGTGGGGAAGGGAGGGGAAA... |
Task1_train_31402 | The gene GABRA3 (gamma-aminobutyric acid type A receptor subunit alpha3) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | TTTTCTCTGTCTAGAACGTCCTTCCTCTCTTCCTTCTGCCTCTACCTATCCACCTACAAGTTTCTTGACTGCATTCTACTTACATAATAATATAAAATGCTAATGCTAATACCAATAATCAGAAGCCTAGCTGTTGCCTTATCCAGGGACTCTTCTCTCAACCTGTCCCAAAACAATGAGTTAGATGACCCTGCTCTATATTCCAATAACTACCCATCTCTTTAGCATTTTAGTTAACATAATTTGCTATTATCCTATTAGTCTTTCTCCCCTATTATATTGTGATTATCTTAAGGACAGAGATTATGTCTCATTAATGT... | TTTTCTCTGTCTAGAACGTCCTTCCTCTCTTCCTTCTGCCTCTACCTATCCACCTACAAGTTTCTTGACTGCATTCTACTTACATAATAATATAAAATGCTAATGCTAATACCAATAATCAGAAGCCTAGCTGTTGCCTTATCCAGGGACTCTTCTCTCAACCTGTCCCAAAACAATGAGTTAGATGACCCTGCTCTATATTCCAATAACTACCCATCTCTTTAGCATTTTAGTTAACATAATTTGCTATTATCCTATTAGTCTTTCTCCCCTATTATATTGTGATTATCTTAAGGACAGAGATTATGTCTCATTAATGT... |
Task1_train_31403 | The variant affects gene NSDHL (NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Child syndrome | CTGTGAGTATACCCCTCCCAGGTGTGTGCAGTGTATCACACCCACTGAGGTTTTCTCGCAAAGCCGGTACATGCTGTACTGGAGCTGAACACTGACCTGGCTACCTGAGAGCCAGCTGCCTCCTGGCTGTTTGCCGTATTTTTTTTTTTTTTCTTTTTTGAGATGGATTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGCCACCATGCCCGGCTAATTTTTGTATTTT... | CTGTGAGTATACCCCTCCCAGGTGTGTGCAGTGTATCACACCCACTGAGGTTTTCTCGCAAAGCCGGTACATGCTGTACTGGAGCTGAACACTGACCTGGCTACCTGAGAGCCAGCTGCCTCCTGGCTGTTTGCCGTATTTTTTTTTTTTTTCTTTTTTGAGATGGATTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGCCACCATGCCCGGCTAATTTTTGTATTTT... |
Task1_train_31404 | This alteration in NSDHL (NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Child syndrome | CATGCTGTACTGGAGCTGAACACTGACCTGGCTACCTGAGAGCCAGCTGCCTCCTGGCTGTTTGCCGTATTTTTTTTTTTTTTCTTTTTTGAGATGGATTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCGGATGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCT... | CATGCTGTACTGGAGCTGAACACTGACCTGGCTACCTGAGAGCCAGCTGCCTCCTGGCTGTTTGCCGTATTTTTTTTTTTTTTCTTTTTTGAGATGGATTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCGGATGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCT... |
Task1_train_31405 | Here’s a variant in BGN (biglycan) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Meester-Loeys syndrome | GTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTCTAGGGGGGATGCCAATGCAGGGGGGACGCGTGCCAGCAGATGCTCCCTGGAGCACCCGAGGAGCTGCATGGGGGCGACAGGACAGGCCTCCATCCCAACCCTCTCCTGGGCTTGTGCTCAGACCCAACCTGGCCCTGAAGTGGCCTCAGGCCCCCGGCCCGCTGGTAGCAAGGACTCCAA... | GTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTCTAGGGGGGATGCCAATGCAGGGGGGACGCGTGCCAGCAGATGCTCCCTGGAGCACCCGAGGAGCTGCATGGGGGCGACAGGACAGGCCTCCATCCCAACCCTCTCCTGGGCTTGTGCTCAGACCCAACCTGGCCCTGAAGTGGCCTCAGGCCCCCGGCCCGCTGGTAGCAAGGACTCCAA... |
Task1_train_31406 | This gene mutation involves BGN (biglycan) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; X-linked spondyloepimetaphyseal dysplasia | GTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTCTAGGGGGGATGCCAATGCAGGGGGGACGCGTGCCAGCAGATGCTCCCTGGAGCACCCGAGGAGCTGCATGGGGGCGACAGGACAGGCCTCCATCCCAACCCTCTCCTGGGCTTGTGCTCAGACCCAACCTGGCCCTGAAGTGGCCTCAGGCCCCCGGCCCGCTGGTAGCAAGGACTCCAA... | GTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTCTAGGGGGGATGCCAATGCAGGGGGGACGCGTGCCAGCAGATGCTCCCTGGAGCACCCGAGGAGCTGCATGGGGGCGACAGGACAGGCCTCCATCCCAACCCTCTCCTGGGCTTGTGCTCAGACCCAACCTGGCCCTGAAGTGGCCTCAGGCCCCCGGCCCGCTGGTAGCAAGGACTCCAA... |
Task1_train_31407 | This variant affects the gene BGN (biglycan) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cardiovascular phenotype | GTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTCTAGGGGGGATGCCAATGCAGGGGGGACGCGTGCCAGCAGATGCTCCCTGGAGCACCCGAGGAGCTGCATGGGGGCGACAGGACAGGCCTCCATCCCAACCCTCTCCTGGGCTTGTGCTCAGACCCAACCTGGCCCTGAAGTGGCCTCAGGCCCCCGGCCCGCTGGTAGCAAGGACTCCAA... | GTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTCTAGGGGGGATGCCAATGCAGGGGGGACGCGTGCCAGCAGATGCTCCCTGGAGCACCCGAGGAGCTGCATGGGGGCGACAGGACAGGCCTCCATCCCAACCCTCTCCTGGGCTTGTGCTCAGACCCAACCTGGCCCTGAAGTGGCCTCAGGCCCCCGGCCCGCTGGTAGCAAGGACTCCAA... |
Task1_train_31408 | The following genetic variant occurs in BGN (biglycan) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; X-linked spondyloepimetaphyseal dysplasia | GGAAGCCAAGGCCCAGGGGCAGTGTTGGGGGCGCCACGGCCTCCACCTCGGGGGCCTCCACTCAGTGCTGCCTCAGCCAACTTTACCCACGGCCTCCAAGGATACCCCCTCTTTCTCCGCCCTGCCTCCCTACCTTGGCCTTAGAGGGTCTCTGAGAAACGTGGGCAGGGTGGAGGGAGGAAGCAACTCAGAGTCGCCGCACTCAACTAACTTCATCCACGCTGCCCTGAGCCCAGAACTCAAAGGAAGGATCGGCCCGGGTAGGAGGCCACAGTGATGTCCCCAAAAGTGAATTCTTCAAAGCCCTTGAGGGCCAATGG... | GGAAGCCAAGGCCCAGGGGCAGTGTTGGGGGCGCCACGGCCTCCACCTCGGGGGCCTCCACTCAGTGCTGCCTCAGCCAACTTTACCCACGGCCTCCAAGGATACCCCCTCTTTCTCCGCCCTGCCTCCCTACCTTGGCCTTAGAGGGTCTCTGAGAAACGTGGGCAGGGTGGAGGGAGGAAGCAACTCAGAGTCGCCGCACTCAACTAACTTCATCCACGCTGCCCTGAGCCCAGAACTCAAAGGAAGGATCGGCCCGGGTAGGAGGCCACAGTGATGTCCCCAAAAGTGAATTCTTCAAAGCCCTTGAGGGCCAATGG... |
Task1_train_31409 | This alteration occurs within gene BGN (biglycan) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | GTCTGGCTGTGAGCTGTGCAGTTTGTGCCCACTTGTGGTGGCATCCCCGTGTGCCCGTCAGTGTCCCTGTGTGTGTGTCCCCGGTCCTCCCTACCAGTGGGGCTAGTCGGCTGGATGGCTCCAAGTTCATGCTGGTGATGGTGGTGGGGCCCCTAGGTCTCGAGTTCATGCTGGTGGTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGATGGGGGTGGGGCCCCTAGGTCTGAAGTCTGTGCCCAAAGAGATCTCCCCTGACACCACGCTGCTGGACCTGCAGAACAACGACATCTCCGAGCTCCGCAAGGAT... | GTCTGGCTGTGAGCTGTGCAGTTTGTGCCCACTTGTGGTGGCATCCCCGTGTGCCCGTCAGTGTCCCTGTGTGTGTGTCCCCGGTCCTCCCTACCAGTGGGGCTAGTCGGCTGGATGGCTCCAAGTTCATGCTGGTGATGGTGGTGGGGCCCCTAGGTCTCGAGTTCATGCTGGTGGTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGATGGGGGTGGGGCCCCTAGGTCTGAAGTCTGTGCCCAAAGAGATCTCCCCTGACACCACGCTGCTGGACCTGCAGAACAACGACATCTCCGAGCTCCGCAAGGAT... |
Task1_train_31410 | With a mutation on Chromosome X in gene SLC6A8 (solute carrier family 6 member 8), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Creatine transporter deficiency | ACTCTGTCCCTCCCCCTGCCCTCCCCTCCCCTCGCGGCCCTCCCGCCCCTCCCCTCTGGCCCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAG... | ACTCTGTCCCTCCCCCTGCCCTCCCCTCCCCTCGCGGCCCTCCCGCCCCTCCCCTCTGGCCCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAG... |
Task1_train_31411 | This variant lies on Chromosome X and affects the gene SLC6A8 (solute carrier family 6 member 8). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not specified | CTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAG... | CTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAG... |
Task1_train_31412 | Here is a mutation in SLC6A8 (solute carrier family 6 member 8) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Creatine transporter deficiency | ACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCC... | ACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCC... |
Task1_train_31413 | Here is a variant affecting SLC6A8 (solute carrier family 6 member 8) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Creatine transporter deficiency | CGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGG... | CGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGG... |
Task1_train_31414 | A genetic alteration is present in SLC6A8 (solute carrier family 6 member 8) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Creatine transporter deficiency | TCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAG... | TCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAG... |
Task1_train_31415 | A variant has been detected on Chromosome X in SLC6A8 (solute carrier family 6 member 8). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Creatine transporter deficiency | GGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAG... | GGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAG... |
Task1_train_31416 | Here is a variant affecting SLC6A8 (solute carrier family 6 member 8) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Creatine transporter deficiency | CAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCC... | CAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCC... |
Task1_train_31417 | Consider this mutation in SLC6A8 (solute carrier family 6 member 8) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Creatine transporter deficiency | ACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCAC... | ACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCAC... |
Task1_train_31418 | The gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Adrenoleukodystrophy | GCAACTGCAGTCCACTGCAGACTCATCCTGTTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTC... | GCAACTGCAGTCCACTGCAGACTCATCCTGTTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTC... |
Task1_train_31419 | Mutation context: Chromosome X, Gene ABCD1 (ATP binding cassette subfamily D member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Adrenoleukodystrophy | CCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTC... | CCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTC... |
Task1_train_31420 | This is a variant in ABCD1 (ATP binding cassette subfamily D member 1), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Adrenoleukodystrophy | GTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGG... | GTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGG... |
Task1_train_31421 | This variant affects the gene ABCD1 (ATP binding cassette subfamily D member 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Adrenoleukodystrophy | GAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGG... | GAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGG... |
Task1_train_31422 | This sequence change occurs on Chromosome X, altering ABCD1 (ATP binding cassette subfamily D member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Adrenoleukodystrophy | ATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTG... | ATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTG... |
Task1_train_31423 | Here is a mutation in ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Adrenoleukodystrophy | TGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTG... | TGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTG... |
Task1_train_31424 | The gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Adrenoleukodystrophy | CAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCA... | CAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCA... |
Task1_train_31425 | Mutation context: Chromosome X, Gene ABCD1 (ATP binding cassette subfamily D member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Adrenoleukodystrophy | CAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGC... | CAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGC... |
Task1_train_31426 | This gene mutation involves ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Adrenoleukodystrophy | AGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCC... | AGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCC... |
Task1_train_31427 | Consider a variant on Chromosome X in gene ABCD1 (ATP binding cassette subfamily D member 1). Determine its clinical classification and disease relevance. | Pathogenic; Adrenoleukodystrophy | AGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCC... | AGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCC... |
Task1_train_31428 | A variant has been detected on Chromosome X in ABCD1 (ATP binding cassette subfamily D member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Adrenoleukodystrophy | TTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGC... | TTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGC... |
Task1_train_31429 | This sequence change occurs on Chromosome X, altering ABCD1 (ATP binding cassette subfamily D member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Adrenoleukodystrophy | TTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGG... | TTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGG... |
Task1_train_31430 | This alteration occurs within gene ABCD1 (ATP binding cassette subfamily D member 1) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | ACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCAC... | ACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCAC... |
Task1_train_31431 | A mutation on Chromosome X affecting ABCD1 (ATP binding cassette subfamily D member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Adrenoleukodystrophy | ACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCAC... | ACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCAC... |
Task1_train_31432 | Given a variant located on Chromosome X and affecting ABCD1 (ATP binding cassette subfamily D member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Adrenoleukodystrophy | CAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACC... | CAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACC... |
Task1_train_31433 | Located on Chromosome X, this mutation impacts ABCD1 (ATP binding cassette subfamily D member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Adrenoleukodystrophy | TTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCC... | TTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCC... |
Task1_train_31434 | Located on Chromosome X, this mutation impacts ABCD1 (ATP binding cassette subfamily D member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Adrenoleukodystrophy | TGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCC... | TGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCC... |
Task1_train_31435 | Gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Adrenoleukodystrophy | CCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCT... | CCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCT... |
Task1_train_31436 | Gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Adrenoleukodystrophy | GGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATAC... | GGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATAC... |
Task1_train_31437 | A mutation found in ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Adrenoleukodystrophy | ATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCT... | ATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCT... |
Task1_train_31438 | Here is a variant affecting ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Adrenoleukodystrophy | CTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGG... | CTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGG... |
Task1_train_31439 | This sequence change occurs on Chromosome X, altering ABCD1 (ATP binding cassette subfamily D member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGG... | TTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGG... |
Task1_train_31440 | A mutation in ABCD1 (ATP binding cassette subfamily D member 1), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Adrenoleukodystrophy | GGTGCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCT... | GGTGCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCT... |
Task1_train_31441 | A genomic change on Chromosome X affects ABCD1 (ATP binding cassette subfamily D member 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Adrenoleukodystrophy | AAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCT... | AAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCT... |
Task1_train_31442 | This is a variant in ABCD1 (ATP binding cassette subfamily D member 1), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Adrenoleukodystrophy | AATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTG... | AATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTG... |
Task1_train_31443 | Gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not specified | AATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTG... | AATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTG... |
Task1_train_31444 | This is a variant in ABCD1 (ATP binding cassette subfamily D member 1), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Adrenoleukodystrophy | AATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCG... | AATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCG... |
Task1_train_31445 | A mutation on Chromosome X affecting ABCD1 (ATP binding cassette subfamily D member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not specified | AGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGAT... | AGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGAT... |
Task1_train_31446 | The following genetic variant occurs in ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Adrenoleukodystrophy | AGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGAT... | AGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGAT... |
Task1_train_31447 | Given a variant located on Chromosome X and affecting ABCD1 (ATP binding cassette subfamily D member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Adrenoleukodystrophy | AGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGAT... | AGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGAT... |
Task1_train_31448 | A genomic change on Chromosome X affects ABCD1 (ATP binding cassette subfamily D member 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Adrenoleukodystrophy | CCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTG... | CCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTG... |
Task1_train_31449 | A variant affecting Chromosome X, within the gene ABCD1 (ATP binding cassette subfamily D member 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Adrenoleukodystrophy | GGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCC... | GGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCC... |
Task1_train_31450 | This variant impacts the gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Adrenoleukodystrophy | GATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCG... | GATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCG... |
Task1_train_31451 | The gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Adrenoleukodystrophy | ATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGA... | ATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGA... |
Task1_train_31452 | With a mutation on Chromosome X in gene ABCD1 (ATP binding cassette subfamily D member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Adrenoleukodystrophy | CAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGC... | CAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGC... |
Task1_train_31453 | This is a variant in ABCD1 (ATP binding cassette subfamily D member 1), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Adrenoleukodystrophy | GTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAG... | GTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAG... |
Task1_train_31454 | This variant impacts the gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Adrenoleukodystrophy | CTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCC... | CTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCC... |
Task1_train_31455 | This variant impacts the gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Inborn genetic diseases | CTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCC... | CTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCC... |
Task1_train_31456 | With a mutation on Chromosome X in gene ABCD1 (ATP binding cassette subfamily D member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Adrenoleukodystrophy | TTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGT... | TTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGT... |
Task1_train_31457 | The gene ABCD1 (ATP binding cassette subfamily D member 1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Adrenoleukodystrophy | GCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAG... | GCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAG... |
Task1_train_31458 | A variant found in Chromosome X affects ABCD1 (ATP binding cassette subfamily D member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Adrenoleukodystrophy | GAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTC... | GAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTC... |
Task1_train_31459 | This variant affects gene ABCD1 (ATP binding cassette subfamily D member 1) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | GGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATA... | GGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATA... |
Task1_train_31460 | This variant lies on Chromosome X and affects the gene ABCD1 (ATP binding cassette subfamily D member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Adrenoleukodystrophy | GAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATAC... | GAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATAC... |
Task1_train_31461 | A variant on Chromosome X in gene ABCD1 (ATP binding cassette subfamily D member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Adrenoleukodystrophy | CTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACG... | CTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACG... |
Task1_train_31462 | Gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Adrenoleukodystrophy | TCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTT... | TCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTT... |
Task1_train_31463 | Located on Chromosome X, this mutation impacts ABCD1 (ATP binding cassette subfamily D member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Adrenoleukodystrophy | TGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGG... | TGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGG... |
Task1_train_31464 | This variant affects the gene ABCD1 (ATP binding cassette subfamily D member 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Adrenoleukodystrophy | GTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATG... | GTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATG... |
Task1_train_31465 | Consider a variant on Chromosome X in gene ABCD1 (ATP binding cassette subfamily D member 1). Determine its clinical classification and disease relevance. | Pathogenic; Adrenoleukodystrophy | CCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACC... | CCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACC... |
Task1_train_31466 | This variant impacts the gene ABCD1 (ATP binding cassette subfamily D member 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; ABCD1-related disorder | CCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACC... | CCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACC... |
Task1_train_31467 | This is a variant in ABCD1 (ATP binding cassette subfamily D member 1), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Adrenoleukodystrophy | TTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCAT... | TTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCAT... |
Task1_train_31468 | A variant has been detected on Chromosome X in ABCD1 (ATP binding cassette subfamily D member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Adrenoleukodystrophy | CTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATG... | CTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATG... |
Task1_train_31469 | Here is a mutation in L1CAM (L1 cell adhesion molecule) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; L1CAM-related disorder | TCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGTACAATCTCAGGTCGCTGCAACCTGATTTTTTTACCTGCCTATCCACACATGCAACCACGACTCGGACCAAACTAAAGAACATTTGCATCACCACAGAGAATGCCTTTGTGCTTCCAGGCAACCAATCCCCAGCTACAGAGGTAAGCCCTGTCCTGCCATCTATGGCTGTAGATGGTCTCACCTGCTCCTGATCACGCCACTGCACTTCAGCC... | TCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGTACAATCTCAGGTCGCTGCAACCTGATTTTTTTACCTGCCTATCCACACATGCAACCACGACTCGGACCAAACTAAAGAACATTTGCATCACCACAGAGAATGCCTTTGTGCTTCCAGGCAACCAATCCCCAGCTACAGAGGTAAGCCCTGTCCTGCCATCTATGGCTGTAGATGGTCTCACCTGCTCCTGATCACGCCACTGCACTTCAGCC... |
Task1_train_31470 | Mutation context: Chromosome X, Gene L1CAM (L1 cell adhesion molecule). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; L1 syndrome | TCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGTACAATCTCAGGTCGCTGCAACCTGATTTTTTTACCTGCCTATCCACACATGCAACCACGACTCGGACCAAACTAAAGAACATTTGCATCACCACAGAGAATGCCTTTGTGCTTCCAGGCAACCAATCCCCAGCTACAGAGGTAAGCCCTGTCCTGCCATCTATGGCTGTAGATGGTCTCACCTGCTCCTGATCACGCCACTGCACTTCAGCC... | TCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGTACAATCTCAGGTCGCTGCAACCTGATTTTTTTACCTGCCTATCCACACATGCAACCACGACTCGGACCAAACTAAAGAACATTTGCATCACCACAGAGAATGCCTTTGTGCTTCCAGGCAACCAATCCCCAGCTACAGAGGTAAGCCCTGTCCTGCCATCTATGGCTGTAGATGGTCTCACCTGCTCCTGATCACGCCACTGCACTTCAGCC... |
Task1_train_31471 | With a mutation on Chromosome X in gene L1CAM (L1 cell adhesion molecule), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Spastic paraplegia | GAAAATGTGCGCTCGGCCAGGGGATTATGGGGCCTGGTTCCTGTCTGGGAAGCTGTCTGGGGCCTCCCTTGGGGAGAGGGGAGCAGTGAAGGTATCTGTGTGGAGAGGAGGGGCTGGGGCGTGTTGGCCTCTCCCTGAAATGAGGAGCTGCCGGGCCTGGGGGCTGGGAAGTGAGAGTCCTGTCAGAGCCCCGGCAGCCAGGGGACAATGGCACACCAGGCGCACATTGTCTATAGGGAGACCTTGCTGTTGGCCCCTCCCCACCGCCCCTGCCTTACCTCTCCAGGGACCTGAAGTCACCCGGCAGCACAGAGAAGAGA... | GAAAATGTGCGCTCGGCCAGGGGATTATGGGGCCTGGTTCCTGTCTGGGAAGCTGTCTGGGGCCTCCCTTGGGGAGAGGGGAGCAGTGAAGGTATCTGTGTGGAGAGGAGGGGCTGGGGCGTGTTGGCCTCTCCCTGAAATGAGGAGCTGCCGGGCCTGGGGGCTGGGAAGTGAGAGTCCTGTCAGAGCCCCGGCAGCCAGGGGACAATGGCACACCAGGCGCACATTGTCTATAGGGAGACCTTGCTGTTGGCCCCTCCCCACCGCCCCTGCCTTACCTCTCCAGGGACCTGAAGTCACCCGGCAGCACAGAGAAGAGA... |
Task1_train_31472 | The variant affects gene L1CAM (L1 cell adhesion molecule), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hydrocephalus due to aqueductal stenosis | AGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGG... | AGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGG... |
Task1_train_31473 | A change on Chromosome X affects gene L1CAM (L1 cell adhesion molecule). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Spastic paraplegia | CTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTA... | CTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTA... |
Task1_train_31474 | This genomic variant is located on Chromosome X, within the L1CAM (L1 cell adhesion molecule) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; X-linked hydrocephalus syndrome | CTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTA... | CTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTA... |
Task1_train_31475 | This variant affects the gene L1CAM (L1 cell adhesion molecule) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Spastic paraplegia | TAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCAC... | TAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCAC... |
Task1_train_31476 | Chromosome X houses a mutation in gene L1CAM (L1 cell adhesion molecule). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; MASA syndrome | ATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACT... | ATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACT... |
Task1_train_31477 | The variant affects gene L1CAM (L1 cell adhesion molecule), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; L1 syndrome | TACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACA... | TACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACA... |
Task1_train_31478 | Mutation context: Chromosome X, Gene L1CAM (L1 cell adhesion molecule). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Spastic paraplegia | TACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACA... | TACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACA... |
Task1_train_31479 | This sequence change occurs on Chromosome X, altering L1CAM (L1 cell adhesion molecule). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; L1 syndrome | CCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAG... | CCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAG... |
Task1_train_31480 | Given a variant located on Chromosome X and affecting L1CAM (L1 cell adhesion molecule), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Spastic paraplegia | CCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAG... | CCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAG... |
Task1_train_31481 | A variant has been detected on Chromosome X in L1CAM (L1 cell adhesion molecule). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hydrocephalus due to aqueductal stenosis | CCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAG... | CCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAG... |
Task1_train_31482 | The gene L1CAM (L1 cell adhesion molecule) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; X-linked hydrocephalus syndrome | GTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTG... | GTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTG... |
Task1_train_31483 | This variant impacts the gene L1CAM (L1 cell adhesion molecule) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Spastic paraplegia | GTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTG... | GTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTG... |
Task1_train_31484 | A variant was discovered on Chromosome X, affecting L1CAM (L1 cell adhesion molecule). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; L1CAM-related disorders | GTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTG... | GTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTG... |
Task1_train_31485 | A genomic change on Chromosome X affects L1CAM (L1 cell adhesion molecule). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Spastic paraplegia | GCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGG... | GCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGG... |
Task1_train_31486 | Assess the clinical impact of this variant on gene L1CAM (L1 cell adhesion molecule), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; X-linked hydrocephalus syndrome | GCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGG... | GCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGG... |
Task1_train_31487 | Here is a genetic alteration in L1CAM (L1 cell adhesion molecule) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Spastic paraplegia | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... |
Task1_train_31488 | This variant impacts the gene L1CAM (L1 cell adhesion molecule) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; L1 syndrome | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... |
Task1_train_31489 | Given this variant in gene L1CAM (L1 cell adhesion molecule) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; X-linked hydrocephalus syndrome | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... |
Task1_train_31490 | Gene L1CAM (L1 cell adhesion molecule) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; X-linked complicated corpus callosum dysgenesis | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... |
Task1_train_31491 | A variant has been detected on Chromosome X in L1CAM (L1 cell adhesion molecule). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; MASA syndrome | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... |
Task1_train_31492 | This variant affects gene L1CAM (L1 cell adhesion molecule) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; X-linked hydrocephalus syndrome | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... |
Task1_train_31493 | A variant was discovered in gene L1CAM (L1 cell adhesion molecule), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; X-linked complicated corpus callosum dysgenesis | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... |
Task1_train_31494 | A mutation in L1CAM (L1 cell adhesion molecule), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; MASA syndrome | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... | GCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGG... |
Task1_train_31495 | A genomic change on Chromosome X affects L1CAM (L1 cell adhesion molecule). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; MASA syndrome | CACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTG... | CACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTG... |
Task1_train_31496 | Chromosome X houses a mutation in gene L1CAM (L1 cell adhesion molecule). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Spastic paraplegia | GTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCC... | GTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCC... |
Task1_train_31497 | A genomic change on Chromosome X affects L1CAM (L1 cell adhesion molecule). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Inborn genetic diseases | GTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCC... | GTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCC... |
Task1_train_31498 | The gene L1CAM (L1 cell adhesion molecule) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; L1 syndrome | GTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCC... | GTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCC... |
Task1_train_31499 | A genetic alteration is present in L1CAM (L1 cell adhesion molecule) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Spastic paraplegia | TAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCC... | TAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCC... |
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