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_30500 | A genomic change on Chromosome X affects PCDH19 (protocadherin 19). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 9 | ATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAA... | ATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAA... |
Task1_train_30501 | This mutation occurs in PCDH19 (protocadherin 19) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 9 | CTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTT... | CTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTT... |
Task1_train_30502 | Located on Chromosome X, this mutation impacts PCDH19 (protocadherin 19). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Developmental and epileptic encephalopathy, 9 | CTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCC... | CTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCC... |
Task1_train_30503 | Assess the clinical impact of this variant on gene PCDH19 (protocadherin 19), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Inborn genetic diseases | TTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGA... | TTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGA... |
Task1_train_30504 | This alteration occurs within gene PCDH19 (protocadherin 19) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Developmental and epileptic encephalopathy, 9 | TTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGA... | TTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGA... |
Task1_train_30505 | This gene mutation involves PCDH19 (protocadherin 19) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Epilepsy | TTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGA... | TTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGA... |
Task1_train_30506 | A change on Chromosome X affects gene PCDH19 (protocadherin 19). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; PCDH19-related epilepsy syndrome | TTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGA... | TTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGA... |
Task1_train_30507 | A genetic alteration is present in PCDH19 (protocadherin 19) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Inborn genetic diseases | TCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGAT... | TCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGAT... |
Task1_train_30508 | This sequence change occurs on Chromosome X, altering PCDH19 (protocadherin 19). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Developmental and epileptic encephalopathy, 9 | GACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAAT... | GACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAAT... |
Task1_train_30509 | A genomic change on Chromosome X affects PCDH19 (protocadherin 19). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 9 | TTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTC... | TTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTC... |
Task1_train_30510 | This sequence change occurs on Chromosome X, altering PCDH19 (protocadherin 19). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Developmental and epileptic encephalopathy, 9 | AGCCAGATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATA... | AGCCAGATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATA... |
Task1_train_30511 | A genomic change on Chromosome X affects PCDH19 (protocadherin 19). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 9 | GATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTC... | GATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTC... |
Task1_train_30512 | This mutation is located in gene PCDH19 (protocadherin 19) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Developmental and epileptic encephalopathy, 9 | TTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGA... | TTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGA... |
Task1_train_30513 | Here is a mutation in PCDH19 (protocadherin 19) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | TTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGA... | TTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGA... |
Task1_train_30514 | This variant affects the gene PCDH19 (protocadherin 19) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 9 | TAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGAGACAGCTA... | TAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGAGACAGCTA... |
Task1_train_30515 | A mutation on Chromosome X affecting PCDH19 (protocadherin 19) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 9 | CCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGAGACAGCTATGCAAATTTTAAAATGATAATTGCGTTTCTGCTCACCATCATTATGTGACAG... | CCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGAGACAGCTATGCAAATTTTAAAATGATAATTGCGTTTCTGCTCACCATCATTATGTGACAG... |
Task1_train_30516 | This gene mutation involves PCDH19 (protocadherin 19) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 9 | TACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGAGACAGCTATGCAAATTTTAAAATGATAATTGCGTTTCTGCTCACCATCATTATGTGACAGAATCCATTCAAACACTAAATGATTGTCTTCCAGCAAATTGTCAGAT... | TACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGAGACAGCTATGCAAATTTTAAAATGATAATTGCGTTTCTGCTCACCATCATTATGTGACAGAATCCATTCAAACACTAAATGATTGTCTTCCAGCAAATTGTCAGAT... |
Task1_train_30517 | A change on Chromosome X affects gene PCDH19 (protocadherin 19). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 9 | AAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGAGACAGCTATGCAAATTTTAAAATGATAATTGCGTTTCTGCTCACCATCATTATGTGACAGAATCCATTCAAACACTAAATGATTGTCTTCCAGCAAATTGTCAGATCAAAAGAATTGATCAACTTGGACTGTCACAAACTTTTCACCCTACAAAAAGAAGCACTGCAAGTATGCTGCATGCATTTAAGTAGGAAACAAAAGCA... | AAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGAGACAGCTATGCAAATTTTAAAATGATAATTGCGTTTCTGCTCACCATCATTATGTGACAGAATCCATTCAAACACTAAATGATTGTCTTCCAGCAAATTGTCAGATCAAAAGAATTGATCAACTTGGACTGTCACAAACTTTTCACCCTACAAAAAGAAGCACTGCAAGTATGCTGCATGCATTTAAGTAGGAAACAAAAGCA... |
Task1_train_30518 | An alteration has been detected in PCDH19 (protocadherin 19) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Developmental and epileptic encephalopathy, 9 | TAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGAGACAGCTATGCAAATTTTAAAATGATAATTGCGTTTCTGCTCACCATCATTATGTGACAGAATCCATTCAAACACTAAATGATTGTCTTCCAGCAAATTGTCAGATCAAAAGAATTGATCAACTTGGACTGTCACAAACTTTTCACCCTACAAAAAGAAGCACTGCAAGTATGCTGCATGCATTTAAGTAGGAAACAAAAGCACCAGGATTTTCACACAGAGACACAGATAAA... | TAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGAGACAGCTATGCAAATTTTAAAATGATAATTGCGTTTCTGCTCACCATCATTATGTGACAGAATCCATTCAAACACTAAATGATTGTCTTCCAGCAAATTGTCAGATCAAAAGAATTGATCAACTTGGACTGTCACAAACTTTTCACCCTACAAAAAGAAGCACTGCAAGTATGCTGCATGCATTTAAGTAGGAAACAAAAGCACCAGGATTTTCACACAGAGACACAGATAAA... |
Task1_train_30519 | This mutation is located in gene PCDH19 (protocadherin 19) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Developmental and epileptic encephalopathy, 9 | AAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGAGACAGCTATGCAAATTTTAAAATGATAATTGCGTTTCTGCTCACCATCATTATGTGACAGAATCCATTCAAACACTAAATGATTGTCTTCCAGCAAATTGTCAGATCAAAAGAATTGATCAACTTGGACTGTCACAAACTTTTCACCCTACAAAAAGAAGCACTGCAAGTATGCTGCATGCATTTAAGTAGGAAACAAAAGCACCAGGATTTTCACACAGAGACACAGATAAACACACCTTATTCATCCAA... | AAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGAGACAGCTATGCAAATTTTAAAATGATAATTGCGTTTCTGCTCACCATCATTATGTGACAGAATCCATTCAAACACTAAATGATTGTCTTCCAGCAAATTGTCAGATCAAAAGAATTGATCAACTTGGACTGTCACAAACTTTTCACCCTACAAAAAGAAGCACTGCAAGTATGCTGCATGCATTTAAGTAGGAAACAAAAGCACCAGGATTTTCACACAGAGACACAGATAAACACACCTTATTCATCCAA... |
Task1_train_30520 | The gene PCDH19 (protocadherin 19), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Developmental and epileptic encephalopathy, 9 | TTTTAAAATGATAATTGCGTTTCTGCTCACCATCATTATGTGACAGAATCCATTCAAACACTAAATGATTGTCTTCCAGCAAATTGTCAGATCAAAAGAATTGATCAACTTGGACTGTCACAAACTTTTCACCCTACAAAAAGAAGCACTGCAAGTATGCTGCATGCATTTAAGTAGGAAACAAAAGCACCAGGATTTTCACACAGAGACACAGATAAACACACCTTATTCATCCAAGACAAAGAAAGAAAACTTGGCTTTACCTGCAGTTGTAGGTCCGGATCTCTTTGTTGTCTCGCTTGCACTTGATTGCCACGAAG... | TTTTAAAATGATAATTGCGTTTCTGCTCACCATCATTATGTGACAGAATCCATTCAAACACTAAATGATTGTCTTCCAGCAAATTGTCAGATCAAAAGAATTGATCAACTTGGACTGTCACAAACTTTTCACCCTACAAAAAGAAGCACTGCAAGTATGCTGCATGCATTTAAGTAGGAAACAAAAGCACCAGGATTTTCACACAGAGACACAGATAAACACACCTTATTCATCCAAGACAAAGAAAGAAAACTTGGCTTTACCTGCAGTTGTAGGTCCGGATCTCTTTGTTGTCTCGCTTGCACTTGATTGCCACGAAG... |
Task1_train_30521 | Chromosome X houses a mutation in gene PCDH19 (protocadherin 19). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy, 9 | CAAACTTTTCACCCTACAAAAAGAAGCACTGCAAGTATGCTGCATGCATTTAAGTAGGAAACAAAAGCACCAGGATTTTCACACAGAGACACAGATAAACACACCTTATTCATCCAAGACAAAGAAAGAAAACTTGGCTTTACCTGCAGTTGTAGGTCCGGATCTCTTTGTTGTCTCGCTTGCACTTGATTGCCACGAAGATCATAGTTACAAAGAGGATGCCCGCAATGGAGCCCAGGGCAATAATGAAAATCAAGGACAAGTTCACAGAGCCCATTGACTCTTGGGCATCGAGAGCAGGGGACAAGTAGATTAGGACG... | CAAACTTTTCACCCTACAAAAAGAAGCACTGCAAGTATGCTGCATGCATTTAAGTAGGAAACAAAAGCACCAGGATTTTCACACAGAGACACAGATAAACACACCTTATTCATCCAAGACAAAGAAAGAAAACTTGGCTTTACCTGCAGTTGTAGGTCCGGATCTCTTTGTTGTCTCGCTTGCACTTGATTGCCACGAAGATCATAGTTACAAAGAGGATGCCCGCAATGGAGCCCAGGGCAATAATGAAAATCAAGGACAAGTTCACAGAGCCCATTGACTCTTGGGCATCGAGAGCAGGGGACAAGTAGATTAGGACG... |
Task1_train_30522 | This alteration in PCDH19 (protocadherin 19) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 9 | GTAGGTCCGGATCTCTTTGTTGTCTCGCTTGCACTTGATTGCCACGAAGATCATAGTTACAAAGAGGATGCCCGCAATGGAGCCCAGGGCAATAATGAAAATCAAGGACAAGTTCACAGAGCCCATTGACTCTTGGGCATCGAGAGCAGGGGACAAGTAGATTAGGACGAGAGCAGAGGCAGAGAGAGATGTCTTGCCGTGGTCGTGAGCCACCACGATAAGCTCATAGGAGGACTTGGAGCTCTCCCCGAAGGTGCGGGTGGTTCTGACTTCGCCATTGACCTGGTCTATTTCAAAGAAGCCGCGGTCGCCCTCGGTCA... | GTAGGTCCGGATCTCTTTGTTGTCTCGCTTGCACTTGATTGCCACGAAGATCATAGTTACAAAGAGGATGCCCGCAATGGAGCCCAGGGCAATAATGAAAATCAAGGACAAGTTCACAGAGCCCATTGACTCTTGGGCATCGAGAGCAGGGGACAAGTAGATTAGGACGAGAGCAGAGGCAGAGAGAGATGTCTTGCCGTGGTCGTGAGCCACCACGATAAGCTCATAGGAGGACTTGGAGCTCTCCCCGAAGGTGCGGGTGGTTCTGACTTCGCCATTGACCTGGTCTATTTCAAAGAAGCCGCGGTCGCCCTCGGTCA... |
Task1_train_30523 | The gene PCDH19 (protocadherin 19), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Developmental and epileptic encephalopathy, 9 | TGTTGTCTCGCTTGCACTTGATTGCCACGAAGATCATAGTTACAAAGAGGATGCCCGCAATGGAGCCCAGGGCAATAATGAAAATCAAGGACAAGTTCACAGAGCCCATTGACTCTTGGGCATCGAGAGCAGGGGACAAGTAGATTAGGACGAGAGCAGAGGCAGAGAGAGATGTCTTGCCGTGGTCGTGAGCCACCACGATAAGCTCATAGGAGGACTTGGAGCTCTCCCCGAAGGTGCGGGTGGTTCTGACTTCGCCATTGACCTGGTCTATTTCAAAGAAGCCGCGGTCGCCCTCGGTCATGTCGTAGGTGACTCGG... | TGTTGTCTCGCTTGCACTTGATTGCCACGAAGATCATAGTTACAAAGAGGATGCCCGCAATGGAGCCCAGGGCAATAATGAAAATCAAGGACAAGTTCACAGAGCCCATTGACTCTTGGGCATCGAGAGCAGGGGACAAGTAGATTAGGACGAGAGCAGAGGCAGAGAGAGATGTCTTGCCGTGGTCGTGAGCCACCACGATAAGCTCATAGGAGGACTTGGAGCTCTCCCCGAAGGTGCGGGTGGTTCTGACTTCGCCATTGACCTGGTCTATTTCAAAGAAGCCGCGGTCGCCCTCGGTCATGTCGTAGGTGACTCGG... |
Task1_train_30524 | Mutation context: Chromosome X, Gene BTK (Bruton tyrosine kinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; X-linked agammaglobulinemia | ATTGTGTACATTAAGGGAGATCTGTCCTTGGCAAGCAGAACACGTTGTTGGCAAGCTGCAAATACCTTCCACCCTTTTGCCAAAGTCCCCTCACAGGGCAGGCTCAATTCCTCAACCTTCAGACCCAAAACGGCTTGGTATTACACAACAATCCAACAAGAAAGCAAATAAGTATGTACGTTGGAAGAGATTACACCACTTTTATAGTTACTGGGCTGGAGCCACTCATTTTTCAGCGGAGAGGGTTAGAACTGGGTAATGAAGGTAAATCCCGAGGAGTCCAGGAATAGCAGATTCACTGATTCACTGACTCTCTGGGA... | ATTGTGTACATTAAGGGAGATCTGTCCTTGGCAAGCAGAACACGTTGTTGGCAAGCTGCAAATACCTTCCACCCTTTTGCCAAAGTCCCCTCACAGGGCAGGCTCAATTCCTCAACCTTCAGACCCAAAACGGCTTGGTATTACACAACAATCCAACAAGAAAGCAAATAAGTATGTACGTTGGAAGAGATTACACCACTTTTATAGTTACTGGGCTGGAGCCACTCATTTTTCAGCGGAGAGGGTTAGAACTGGGTAATGAAGGTAAATCCCGAGGAGTCCAGGAATAGCAGATTCACTGATTCACTGACTCTCTGGGA... |
Task1_train_30525 | Here is a variant affecting BTK (Bruton tyrosine kinase) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | TCCTTGGCAAGCAGAACACGTTGTTGGCAAGCTGCAAATACCTTCCACCCTTTTGCCAAAGTCCCCTCACAGGGCAGGCTCAATTCCTCAACCTTCAGACCCAAAACGGCTTGGTATTACACAACAATCCAACAAGAAAGCAAATAAGTATGTACGTTGGAAGAGATTACACCACTTTTATAGTTACTGGGCTGGAGCCACTCATTTTTCAGCGGAGAGGGTTAGAACTGGGTAATGAAGGTAAATCCCGAGGAGTCCAGGAATAGCAGATTCACTGATTCACTGACTCTCTGGGACTCGGGCTGCCAAAAATAAAATCC... | TCCTTGGCAAGCAGAACACGTTGTTGGCAAGCTGCAAATACCTTCCACCCTTTTGCCAAAGTCCCCTCACAGGGCAGGCTCAATTCCTCAACCTTCAGACCCAAAACGGCTTGGTATTACACAACAATCCAACAAGAAAGCAAATAAGTATGTACGTTGGAAGAGATTACACCACTTTTATAGTTACTGGGCTGGAGCCACTCATTTTTCAGCGGAGAGGGTTAGAACTGGGTAATGAAGGTAAATCCCGAGGAGTCCAGGAATAGCAGATTCACTGATTCACTGACTCTCTGGGACTCGGGCTGCCAAAAATAAAATCC... |
Task1_train_30526 | This variant affects gene BTK (Bruton tyrosine kinase) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | AGCAGAACACGTTGTTGGCAAGCTGCAAATACCTTCCACCCTTTTGCCAAAGTCCCCTCACAGGGCAGGCTCAATTCCTCAACCTTCAGACCCAAAACGGCTTGGTATTACACAACAATCCAACAAGAAAGCAAATAAGTATGTACGTTGGAAGAGATTACACCACTTTTATAGTTACTGGGCTGGAGCCACTCATTTTTCAGCGGAGAGGGTTAGAACTGGGTAATGAAGGTAAATCCCGAGGAGTCCAGGAATAGCAGATTCACTGATTCACTGACTCTCTGGGACTCGGGCTGCCAAAAATAAAATCCCAGTACTGG... | AGCAGAACACGTTGTTGGCAAGCTGCAAATACCTTCCACCCTTTTGCCAAAGTCCCCTCACAGGGCAGGCTCAATTCCTCAACCTTCAGACCCAAAACGGCTTGGTATTACACAACAATCCAACAAGAAAGCAAATAAGTATGTACGTTGGAAGAGATTACACCACTTTTATAGTTACTGGGCTGGAGCCACTCATTTTTCAGCGGAGAGGGTTAGAACTGGGTAATGAAGGTAAATCCCGAGGAGTCCAGGAATAGCAGATTCACTGATTCACTGACTCTCTGGGACTCGGGCTGCCAAAAATAAAATCCCAGTACTGG... |
Task1_train_30527 | This variant impacts the gene BTK (Bruton tyrosine kinase) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; X-linked agammaglobulinemia | TTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGAATGGTCTAGATCTCCTGACCACGTGATCCGCTTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCC... | TTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGAATGGTCTAGATCTCCTGACCACGTGATCCGCTTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCC... |
Task1_train_30528 | The gene BTK (Bruton tyrosine kinase) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; X-linked agammaglobulinemia | TCCGCTTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCCTCCCTTTCTGCACTTTCTCTGTGATCTGTCATTTGTTCGAGGGAAACCAGCCATGCTCGGATCCAGATA... | TCCGCTTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCCTCCCTTTCTGCACTTTCTCTGTGATCTGTCATTTGTTCGAGGGAAACCAGCCATGCTCGGATCCAGATA... |
Task1_train_30529 | Consider this mutation in BTK (Bruton tyrosine kinase) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; X-linked agammaglobulinemia | GGGATTACAGGCATGAGCCACCATGCCCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCCTCCCTTTCTGCACTTTCTCTGTGATCTGTCATTTGTTCGAGGGAAACCAGCCATGCTCGGATCCAGATACCCACTTTTCACCTCACCAAGAAGGCTC... | GGGATTACAGGCATGAGCCACCATGCCCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCCTCCCTTTCTGCACTTTCTCTGTGATCTGTCATTTGTTCGAGGGAAACCAGCCATGCTCGGATCCAGATACCCACTTTTCACCTCACCAAGAAGGCTC... |
Task1_train_30530 | This is a variant in BTK (Bruton tyrosine kinase), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; X-linked agammaglobulinemia | CATGAGCCACCATGCCCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCCTCCCTTTCTGCACTTTCTCTGTGATCTGTCATTTGTTCGAGGGAAACCAGCCATGCTCGGATCCAGATACCCACTTTTCACCTCACCAAGAAGGCTCCAGATTCACAT... | CATGAGCCACCATGCCCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCCTCCCTTTCTGCACTTTCTCTGTGATCTGTCATTTGTTCGAGGGAAACCAGCCATGCTCGGATCCAGATACCCACTTTTCACCTCACCAAGAAGGCTCCAGATTCACAT... |
Task1_train_30531 | Given this context: Chromosome X, gene BTK (Bruton tyrosine kinase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; X-linked agammaglobulinemia | ATGAGCCACCATGCCCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCCTCCCTTTCTGCACTTTCTCTGTGATCTGTCATTTGTTCGAGGGAAACCAGCCATGCTCGGATCCAGATACCCACTTTTCACCTCACCAAGAAGGCTCCAGATTCACATA... | ATGAGCCACCATGCCCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCCTCCCTTTCTGCACTTTCTCTGTGATCTGTCATTTGTTCGAGGGAAACCAGCCATGCTCGGATCCAGATACCCACTTTTCACCTCACCAAGAAGGCTCCAGATTCACATA... |
Task1_train_30532 | Mutation context: Chromosome X, Gene BTK (Bruton tyrosine kinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | ATGAGCCACCATGCCCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCCTCCCTTTCTGCACTTTCTCTGTGATCTGTCATTTGTTCGAGGGAAACCAGCCATGCTCGGATCCAGATACCCACTTTTCACCTCACCAAGAAGGCTCCAGATTCACATA... | ATGAGCCACCATGCCCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCCTCCCTTTCTGCACTTTCTCTGTGATCTGTCATTTGTTCGAGGGAAACCAGCCATGCTCGGATCCAGATACCCACTTTTCACCTCACCAAGAAGGCTCCAGATTCACATA... |
Task1_train_30533 | A mutation found in BTK (Bruton tyrosine kinase) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not specified | ATGAGCCACCATGCCCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCCTCCCTTTCTGCACTTTCTCTGTGATCTGTCATTTGTTCGAGGGAAACCAGCCATGCTCGGATCCAGATACCCACTTTTCACCTCACCAAGAAGGCTCCAGATTCACATA... | ATGAGCCACCATGCCCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCCTCCCTTTCTGCACTTTCTCTGTGATCTGTCATTTGTTCGAGGGAAACCAGCCATGCTCGGATCCAGATACCCACTTTTCACCTCACCAAGAAGGCTCCAGATTCACATA... |
Task1_train_30534 | The gene BTK (Bruton tyrosine kinase), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; X-linked agammaglobulinemia | CCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCCTCCCTTTCTGCACTTTCTCTGTGATCTGTCATTTGTTCGAGGGAAACCAGCCATGCTCGGATCCAGATACCCACTTTTCACCTCACCAAGAAGGCTCCAGATTCACATATGCACTTGTTGGAC... | CCAGCCAGTAATCTGCATTTTTAAGAGCTCCTTAGGGTTTCTGATATGCATCCAATTTTGACCACTCCTTTAAACAGGCTGTGGATAAAGTACCTGTCTGAAATCATTTTTAATTAGCAGAGTAAGAAGGTCCTGATTGGGAGGGAGCATAGCCAATCACCCTTAATCCTGCATCACACAGAAGAAAGAAGGAGTCCTCCCTTTCTGCACTTTCTCTGTGATCTGTCATTTGTTCGAGGGAAACCAGCCATGCTCGGATCCAGATACCCACTTTTCACCTCACCAAGAAGGCTCCAGATTCACATATGCACTTGTTGGAC... |
Task1_train_30535 | A variant was discovered in gene BTK (Bruton tyrosine kinase), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; X-linked agammaglobulinemia | TACCTGTTTTAGTTCCCTTTCAAGCAGTAGGTTTTAAAAAAAATCTCATTTAGCCGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGCTGTGAACCCAGGAGGCGGGGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGAA... | TACCTGTTTTAGTTCCCTTTCAAGCAGTAGGTTTTAAAAAAAATCTCATTTAGCCGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGCTGTGAACCCAGGAGGCGGGGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGAA... |
Task1_train_30536 | An alteration has been detected in BTK (Bruton tyrosine kinase) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | CTTTCAAGCAGTAGGTTTTAAAAAAAATCTCATTTAGCCGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGCTGTGAACCCAGGAGGCGGGGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGAAAGACTCGGTCTCAAAA... | CTTTCAAGCAGTAGGTTTTAAAAAAAATCTCATTTAGCCGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGCTGTGAACCCAGGAGGCGGGGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGAAAGACTCGGTCTCAAAA... |
Task1_train_30537 | Gene BTK (Bruton tyrosine kinase) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive agammaglobulinemia 1 | AAAAAAAATCTCATTTAGCCGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGCTGTGAACCCAGGAGGCGGGGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGAAAGACTCGGTCTCAAAAAAAAAAAAAAAAAAATCTC... | AAAAAAAATCTCATTTAGCCGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGCTGTGAACCCAGGAGGCGGGGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGAAAGACTCGGTCTCAAAAAAAAAAAAAAAAAAATCTC... |
Task1_train_30538 | A genomic change on Chromosome X affects BTK (Bruton tyrosine kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | CTCATTTAGCCGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGCTGTGAACCCAGGAGGCGGGGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGAAAGACTCGGTCTCAAAAAAAAAAAAAAAAAAATCTCATTTAGGAC... | CTCATTTAGCCGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGCTGTGAACCCAGGAGGCGGGGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGAAAGACTCGGTCTCAAAAAAAAAAAAAAAAAAATCTCATTTAGGAC... |
Task1_train_30539 | This genomic variant is located on Chromosome X, within the BTK (Bruton tyrosine kinase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | GGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGCTGTGAACCCAGGAGGCGGGGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGAAAGACTCGGTCTCAAAAAAAAAAAAAAAAAAATCTCATTTAGGACCTCAGCCAGAAA... | GGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGCTGTGAACCCAGGAGGCGGGGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGAAAGACTCGGTCTCAAAAAAAAAAAAAAAAAAATCTCATTTAGGACCTCAGCCAGAAA... |
Task1_train_30540 | The gene BTK (Bruton tyrosine kinase) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | GCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGCTGTGAACCCAGGAGGCGGGGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGAAAGACTCGGTCTCAAAAAAAAAAAAAAAAAAATCTCATTTAGGACCTCAGCCAGAAAC... | GCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGCTGTGAACCCAGGAGGCGGGGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGAAAGACTCGGTCTCAAAAAAAAAAAAAAAAAAATCTCATTTAGGACCTCAGCCAGAAAC... |
Task1_train_30541 | Here’s a variant in BTK (Bruton tyrosine kinase) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | GGCGAAATGCCATCTCTACTAAAAATACAAAATTGGCCAGGCTCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCTGCCTGGCCAACATGGTGAAATGCTGTCTCTACTAAAAATGCAAAAATTAGCTGGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTGTCACCAAA... | GGCGAAATGCCATCTCTACTAAAAATACAAAATTGGCCAGGCTCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCTGCCTGGCCAACATGGTGAAATGCTGTCTCTACTAAAAATGCAAAAATTAGCTGGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTGTCACCAAA... |
Task1_train_30542 | A variant has been detected on Chromosome X in BTK (Bruton tyrosine kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCTGCCTGGCCAACATGGTGAAATGCTGTCTCTACTAAAAATGCAAAAATTAGCTGGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTGTCACCAAAAAAAAAAAAAAAAATTAGCTTGGTGTGGTGGTGCACGCCTATAATCCCAG... | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCTGCCTGGCCAACATGGTGAAATGCTGTCTCTACTAAAAATGCAAAAATTAGCTGGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTGTCACCAAAAAAAAAAAAAAAAATTAGCTTGGTGTGGTGGTGCACGCCTATAATCCCAG... |
Task1_train_30543 | Given a variant located on Chromosome X and affecting BTK (Bruton tyrosine kinase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; X-linked agammaglobulinemia | TGCATTAGGATTTGGAGGCTTGATATTTGCTTACGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAA... | TGCATTAGGATTTGGAGGCTTGATATTTGCTTACGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAA... |
Task1_train_30544 | The gene BTK (Bruton tyrosine kinase) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | TGCATTAGGATTTGGAGGCTTGATATTTGCTTACGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAA... | TGCATTAGGATTTGGAGGCTTGATATTTGCTTACGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAA... |
Task1_train_30545 | A variant has been detected on Chromosome X in BTK (Bruton tyrosine kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; X-linked agammaglobulinemia | TGCATTAGGATTTGGAGGCTTGATATTTGCTTACGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAA... | TGCATTAGGATTTGGAGGCTTGATATTTGCTTACGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAA... |
Task1_train_30546 | Located on Chromosome X, this mutation impacts BTK (Bruton tyrosine kinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | TGCATTAGGATTTGGAGGCTTGATATTTGCTTACGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAA... | TGCATTAGGATTTGGAGGCTTGATATTTGCTTACGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAA... |
Task1_train_30547 | A mutation on Chromosome X affecting BTK (Bruton tyrosine kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | ATTTGCTTACGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAAGGAGGAATGGAGTAAAGTCATCAG... | ATTTGCTTACGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAAGGAGGAATGGAGTAAAGTCATCAG... |
Task1_train_30548 | This variant affects the gene BTK (Bruton tyrosine kinase) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; X-linked agammaglobulinemia | CGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAAGGAGGAATGGAGTAAAGTCATCAGGATTAATAG... | CGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAAGGAGGAATGGAGTAAAGTCATCAGGATTAATAG... |
Task1_train_30549 | Here’s a variant in BTK (Bruton tyrosine kinase) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | CGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAAGGAGGAATGGAGTAAAGTCATCAGGATTAATAG... | CGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAAGGAGGAATGGAGTAAAGTCATCAGGATTAATAG... |
Task1_train_30550 | This variant lies on Chromosome X and affects the gene BTK (Bruton tyrosine kinase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; X-linked agammaglobulinemia | CGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAAGGAGGAATGGAGTAAAGTCATCAGGATTAATAG... | CGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAAGGAGGAATGGAGTAAAGTCATCAGGATTAATAG... |
Task1_train_30551 | Located on Chromosome X, this mutation impacts BTK (Bruton tyrosine kinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | CGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAAGGAGGAATGGAGTAAAGTCATCAGGATTAATAG... | CGTTTTCTTGGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAAGGAGGAATGGAGTAAAGTCATCAGGATTAATAG... |
Task1_train_30552 | Given this context: Chromosome X, gene BTK (Bruton tyrosine kinase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | GGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAAGGAGGAATGGAGTAAAGTCATCAGGATTAATAGATCAAGATA... | GGCACGGTCACAAGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAAGGAGGAATGGAGTAAAGTCATCAGGATTAATAGATCAAGATA... |
Task1_train_30553 | This variant affects gene BTK (Bruton tyrosine kinase) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | AGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAAGGAGGAATGGAGTAAAGTCATCAGGATTAATAGATCAAGATAAGGTATTGGGGA... | AGAGTGTCACAAACACACACAGGCTTTCTCAAAAGTCTCTCCTCCTCAACTAGTATCTTCTACAAACGTTACTTTTAACGAATTTCCTGTTTTTGTATCTGATTGAGCTTTCCTGATTGACAATATGGTTACAAGAAGGATGAAGTGAAATAAGATCTAGTAGGTACTCCCTTCCTCTTCTCTATCCACCTTTCCTTTCTCTGCTCTTCTCCTTCCCTTCCTTTTATCTGCAGTTGTCACTGGGAATTAGACTGATTAAGAAAGAAGGAGGAATGGAGTAAAGTCATCAGGATTAATAGATCAAGATAAGGTATTGGGGA... |
Task1_train_30554 | A variant found in Chromosome X affects BTK (Bruton tyrosine kinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; X-linked agammaglobulinemia | CCTTCGACTACAGACACCTTCCCACCTAATAGGAATCTGTTGATGCCACCAAGAAATTTTGATTCATTTCCACCACGTGGAAAGCAACCTGCTGTGTAGTCCTAGGTAAAGCACTGAGGACATACAGAACGATTGCATTCTCATGGGCAATTCCACACCACCCCATTCCCTCACTGATATGCTGAAAGAATTAAGGGAGAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGCGATACCCCATCTACTAA... | CCTTCGACTACAGACACCTTCCCACCTAATAGGAATCTGTTGATGCCACCAAGAAATTTTGATTCATTTCCACCACGTGGAAAGCAACCTGCTGTGTAGTCCTAGGTAAAGCACTGAGGACATACAGAACGATTGCATTCTCATGGGCAATTCCACACCACCCCATTCCCTCACTGATATGCTGAAAGAATTAAGGGAGAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGCGATACCCCATCTACTAA... |
Task1_train_30555 | Here’s a variant in BTK (Bruton tyrosine kinase) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; X-linked agammaglobulinemia | ATTTCCACCACGTGGAAAGCAACCTGCTGTGTAGTCCTAGGTAAAGCACTGAGGACATACAGAACGATTGCATTCTCATGGGCAATTCCACACCACCCCATTCCCTCACTGATATGCTGAAAGAATTAAGGGAGAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGCGATACCCCATCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGTTGGGCGCCTGTGATCCCAGCTACTTGGGAGGCTGAGG... | ATTTCCACCACGTGGAAAGCAACCTGCTGTGTAGTCCTAGGTAAAGCACTGAGGACATACAGAACGATTGCATTCTCATGGGCAATTCCACACCACCCCATTCCCTCACTGATATGCTGAAAGAATTAAGGGAGAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGCGATACCCCATCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGTTGGGCGCCTGTGATCCCAGCTACTTGGGAGGCTGAGG... |
Task1_train_30556 | This variant impacts the gene BTK (Bruton tyrosine kinase) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal recessive agammaglobulinemia 1 | GAGAATGTGGACCTGGTATTTCCAGACGGTGTAGATTTTCAAGAGAAGCTGGAAATTCCAGGGTTTTTTTTTTTTTAAGCGAAATGTTTCTTTTTAAGGGTTTGCTAATTATTATATAACATAAAAAAAACCCACACATGTGGGCCAAATGCATCCACAGGCCCCAGTATGTGACTCTGAAGGAACCAAATGATGGCCCCATGCCAGGAGCAGTCCCATTGGGAAGCACAGTCCCTTCTGTTCCAAATCCAGAATGGCCACTGAAAGACCCCACCATTTTCTTGTGGGTGGTAGGGGGTTGGGAGTGAGTGACTGCTCTG... | GAGAATGTGGACCTGGTATTTCCAGACGGTGTAGATTTTCAAGAGAAGCTGGAAATTCCAGGGTTTTTTTTTTTTTAAGCGAAATGTTTCTTTTTAAGGGTTTGCTAATTATTATATAACATAAAAAAAACCCACACATGTGGGCCAAATGCATCCACAGGCCCCAGTATGTGACTCTGAAGGAACCAAATGATGGCCCCATGCCAGGAGCAGTCCCATTGGGAAGCACAGTCCCTTCTGTTCCAAATCCAGAATGGCCACTGAAAGACCCCACCATTTTCTTGTGGGTGGTAGGGGGTTGGGAGTGAGTGACTGCTCTG... |
Task1_train_30557 | A variant found in Chromosome X affects BTK (Bruton tyrosine kinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | ACCTGGTATTTCCAGACGGTGTAGATTTTCAAGAGAAGCTGGAAATTCCAGGGTTTTTTTTTTTTTAAGCGAAATGTTTCTTTTTAAGGGTTTGCTAATTATTATATAACATAAAAAAAACCCACACATGTGGGCCAAATGCATCCACAGGCCCCAGTATGTGACTCTGAAGGAACCAAATGATGGCCCCATGCCAGGAGCAGTCCCATTGGGAAGCACAGTCCCTTCTGTTCCAAATCCAGAATGGCCACTGAAAGACCCCACCATTTTCTTGTGGGTGGTAGGGGGTTGGGAGTGAGTGACTGCTCTGATTCCCACCA... | ACCTGGTATTTCCAGACGGTGTAGATTTTCAAGAGAAGCTGGAAATTCCAGGGTTTTTTTTTTTTTAAGCGAAATGTTTCTTTTTAAGGGTTTGCTAATTATTATATAACATAAAAAAAACCCACACATGTGGGCCAAATGCATCCACAGGCCCCAGTATGTGACTCTGAAGGAACCAAATGATGGCCCCATGCCAGGAGCAGTCCCATTGGGAAGCACAGTCCCTTCTGTTCCAAATCCAGAATGGCCACTGAAAGACCCCACCATTTTCTTGTGGGTGGTAGGGGGTTGGGAGTGAGTGACTGCTCTGATTCCCACCA... |
Task1_train_30558 | A mutation on Chromosome X affecting BTK (Bruton tyrosine kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TGGTATTTCCAGACGGTGTAGATTTTCAAGAGAAGCTGGAAATTCCAGGGTTTTTTTTTTTTTAAGCGAAATGTTTCTTTTTAAGGGTTTGCTAATTATTATATAACATAAAAAAAACCCACACATGTGGGCCAAATGCATCCACAGGCCCCAGTATGTGACTCTGAAGGAACCAAATGATGGCCCCATGCCAGGAGCAGTCCCATTGGGAAGCACAGTCCCTTCTGTTCCAAATCCAGAATGGCCACTGAAAGACCCCACCATTTTCTTGTGGGTGGTAGGGGGTTGGGAGTGAGTGACTGCTCTGATTCCCACCACGG... | TGGTATTTCCAGACGGTGTAGATTTTCAAGAGAAGCTGGAAATTCCAGGGTTTTTTTTTTTTTAAGCGAAATGTTTCTTTTTAAGGGTTTGCTAATTATTATATAACATAAAAAAAACCCACACATGTGGGCCAAATGCATCCACAGGCCCCAGTATGTGACTCTGAAGGAACCAAATGATGGCCCCATGCCAGGAGCAGTCCCATTGGGAAGCACAGTCCCTTCTGTTCCAAATCCAGAATGGCCACTGAAAGACCCCACCATTTTCTTGTGGGTGGTAGGGGGTTGGGAGTGAGTGACTGCTCTGATTCCCACCACGG... |
Task1_train_30559 | Gene BTK (Bruton tyrosine kinase) 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 agammaglobulinemia with growth hormone deficiency | GGCAAGGAACTAGTCTTCTCCTTTTGGCTCTGCATAATAGCAATAAAGGGGCTGGGGAGGAAGGGGCTGACCTAGGAGTAGAGCATCAGATAAGGGGTCACACCAGCAAGTTTATTTTCCTCTTTCCCACCCTAAATCTCAAAAGTGCTTAAAATGTGGAAGCAAGCAGGGATTTGGAGCCCATCAATTGAAAAAGAAACAAGTCCAGGAATGAAAGAACGCTAAGGCTAAATTAGAATATTTCTCTTGAAAGTTTAATTTTCTACATCTACCCCCAAATGCTACTGAGATGGTACACACCCATGATCACCACTATTCTC... | GGCAAGGAACTAGTCTTCTCCTTTTGGCTCTGCATAATAGCAATAAAGGGGCTGGGGAGGAAGGGGCTGACCTAGGAGTAGAGCATCAGATAAGGGGTCACACCAGCAAGTTTATTTTCCTCTTTCCCACCCTAAATCTCAAAAGTGCTTAAAATGTGGAAGCAAGCAGGGATTTGGAGCCCATCAATTGAAAAAGAAACAAGTCCAGGAATGAAAGAACGCTAAGGCTAAATTAGAATATTTCTCTTGAAAGTTTAATTTTCTACATCTACCCCCAAATGCTACTGAGATGGTACACACCCATGATCACCACTATTCTC... |
Task1_train_30560 | A variant was discovered in gene BTK (Bruton tyrosine kinase), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | AAGGAACTAGTCTTCTCCTTTTGGCTCTGCATAATAGCAATAAAGGGGCTGGGGAGGAAGGGGCTGACCTAGGAGTAGAGCATCAGATAAGGGGTCACACCAGCAAGTTTATTTTCCTCTTTCCCACCCTAAATCTCAAAAGTGCTTAAAATGTGGAAGCAAGCAGGGATTTGGAGCCCATCAATTGAAAAAGAAACAAGTCCAGGAATGAAAGAACGCTAAGGCTAAATTAGAATATTTCTCTTGAAAGTTTAATTTTCTACATCTACCCCCAAATGCTACTGAGATGGTACACACCCATGATCACCACTATTCTCAAC... | AAGGAACTAGTCTTCTCCTTTTGGCTCTGCATAATAGCAATAAAGGGGCTGGGGAGGAAGGGGCTGACCTAGGAGTAGAGCATCAGATAAGGGGTCACACCAGCAAGTTTATTTTCCTCTTTCCCACCCTAAATCTCAAAAGTGCTTAAAATGTGGAAGCAAGCAGGGATTTGGAGCCCATCAATTGAAAAAGAAACAAGTCCAGGAATGAAAGAACGCTAAGGCTAAATTAGAATATTTCTCTTGAAAGTTTAATTTTCTACATCTACCCCCAAATGCTACTGAGATGGTACACACCCATGATCACCACTATTCTCAAC... |
Task1_train_30561 | A mutation found in BTK (Bruton tyrosine kinase) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TTTTGGCTCTGCATAATAGCAATAAAGGGGCTGGGGAGGAAGGGGCTGACCTAGGAGTAGAGCATCAGATAAGGGGTCACACCAGCAAGTTTATTTTCCTCTTTCCCACCCTAAATCTCAAAAGTGCTTAAAATGTGGAAGCAAGCAGGGATTTGGAGCCCATCAATTGAAAAAGAAACAAGTCCAGGAATGAAAGAACGCTAAGGCTAAATTAGAATATTTCTCTTGAAAGTTTAATTTTCTACATCTACCCCCAAATGCTACTGAGATGGTACACACCCATGATCACCACTATTCTCAACCAATATCTAAGGCACAGA... | TTTTGGCTCTGCATAATAGCAATAAAGGGGCTGGGGAGGAAGGGGCTGACCTAGGAGTAGAGCATCAGATAAGGGGTCACACCAGCAAGTTTATTTTCCTCTTTCCCACCCTAAATCTCAAAAGTGCTTAAAATGTGGAAGCAAGCAGGGATTTGGAGCCCATCAATTGAAAAAGAAACAAGTCCAGGAATGAAAGAACGCTAAGGCTAAATTAGAATATTTCTCTTGAAAGTTTAATTTTCTACATCTACCCCCAAATGCTACTGAGATGGTACACACCCATGATCACCACTATTCTCAACCAATATCTAAGGCACAGA... |
Task1_train_30562 | This is a variant in BTK (Bruton tyrosine kinase), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; X-linked agammaglobulinemia | AGCATCAGATAAGGGGTCACACCAGCAAGTTTATTTTCCTCTTTCCCACCCTAAATCTCAAAAGTGCTTAAAATGTGGAAGCAAGCAGGGATTTGGAGCCCATCAATTGAAAAAGAAACAAGTCCAGGAATGAAAGAACGCTAAGGCTAAATTAGAATATTTCTCTTGAAAGTTTAATTTTCTACATCTACCCCCAAATGCTACTGAGATGGTACACACCCATGATCACCACTATTCTCAACCAATATCTAAGGCACAGAAACTATTATCTTAGCACTTAGGACTACCGCCAGTTAAAGGTAAACTTCAGTCCCTCGTCC... | AGCATCAGATAAGGGGTCACACCAGCAAGTTTATTTTCCTCTTTCCCACCCTAAATCTCAAAAGTGCTTAAAATGTGGAAGCAAGCAGGGATTTGGAGCCCATCAATTGAAAAAGAAACAAGTCCAGGAATGAAAGAACGCTAAGGCTAAATTAGAATATTTCTCTTGAAAGTTTAATTTTCTACATCTACCCCCAAATGCTACTGAGATGGTACACACCCATGATCACCACTATTCTCAACCAATATCTAAGGCACAGAAACTATTATCTTAGCACTTAGGACTACCGCCAGTTAAAGGTAAACTTCAGTCCCTCGTCC... |
Task1_train_30563 | The gene BTK (Bruton tyrosine kinase) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; X-linked agammaglobulinemia | ATCAGATAAGGGGTCACACCAGCAAGTTTATTTTCCTCTTTCCCACCCTAAATCTCAAAAGTGCTTAAAATGTGGAAGCAAGCAGGGATTTGGAGCCCATCAATTGAAAAAGAAACAAGTCCAGGAATGAAAGAACGCTAAGGCTAAATTAGAATATTTCTCTTGAAAGTTTAATTTTCTACATCTACCCCCAAATGCTACTGAGATGGTACACACCCATGATCACCACTATTCTCAACCAATATCTAAGGCACAGAAACTATTATCTTAGCACTTAGGACTACCGCCAGTTAAAGGTAAACTTCAGTCCCTCGTCCCAA... | ATCAGATAAGGGGTCACACCAGCAAGTTTATTTTCCTCTTTCCCACCCTAAATCTCAAAAGTGCTTAAAATGTGGAAGCAAGCAGGGATTTGGAGCCCATCAATTGAAAAAGAAACAAGTCCAGGAATGAAAGAACGCTAAGGCTAAATTAGAATATTTCTCTTGAAAGTTTAATTTTCTACATCTACCCCCAAATGCTACTGAGATGGTACACACCCATGATCACCACTATTCTCAACCAATATCTAAGGCACAGAAACTATTATCTTAGCACTTAGGACTACCGCCAGTTAAAGGTAAACTTCAGTCCCTCGTCCCAA... |
Task1_train_30564 | Here is a genetic alteration in BTK (Bruton tyrosine kinase) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive agammaglobulinemia 1 | ACTATTCTCAACCAATATCTAAGGCACAGAAACTATTATCTTAGCACTTAGGACTACCGCCAGTTAAAGGTAAACTTCAGTCCCTCGTCCCAAACCTCTCTTACTGTAAGTCATCTTTAAGCCTCAGTGGGTTGTTGTGTGAATTCCTAGACTCCAGCAAATAGATTGAGAGTTGAGTTTGGGCTATAACTCACATCATGACTTTGGCTTCTTCAATGAATTCATCTTCAGACATGGAGCCTTCTTTGATCATCTTGATGGCCACGTCGTACTGGCCTCTCCATTTCCCATACTTCACTACCCCAAATTGTCCAGTCCCC... | ACTATTCTCAACCAATATCTAAGGCACAGAAACTATTATCTTAGCACTTAGGACTACCGCCAGTTAAAGGTAAACTTCAGTCCCTCGTCCCAAACCTCTCTTACTGTAAGTCATCTTTAAGCCTCAGTGGGTTGTTGTGTGAATTCCTAGACTCCAGCAAATAGATTGAGAGTTGAGTTTGGGCTATAACTCACATCATGACTTTGGCTTCTTCAATGAATTCATCTTCAGACATGGAGCCTTCTTTGATCATCTTGATGGCCACGTCGTACTGGCCTCTCCATTTCCCATACTTCACTACCCCAAATTGTCCAGTCCCC... |
Task1_train_30565 | This variant affects the gene BTK (Bruton tyrosine kinase) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; X-linked agammaglobulinemia | ATTATCTTAGCACTTAGGACTACCGCCAGTTAAAGGTAAACTTCAGTCCCTCGTCCCAAACCTCTCTTACTGTAAGTCATCTTTAAGCCTCAGTGGGTTGTTGTGTGAATTCCTAGACTCCAGCAAATAGATTGAGAGTTGAGTTTGGGCTATAACTCACATCATGACTTTGGCTTCTTCAATGAATTCATCTTCAGACATGGAGCCTTCTTTGATCATCTTGATGGCCACGTCGTACTGGCCTCTCCATTTCCCATACTTCACTACCCCAAATTGTCCAGTCCCCAGCTCCTTCAAGAAGGTCAGGTCCTTTGGATCAA... | ATTATCTTAGCACTTAGGACTACCGCCAGTTAAAGGTAAACTTCAGTCCCTCGTCCCAAACCTCTCTTACTGTAAGTCATCTTTAAGCCTCAGTGGGTTGTTGTGTGAATTCCTAGACTCCAGCAAATAGATTGAGAGTTGAGTTTGGGCTATAACTCACATCATGACTTTGGCTTCTTCAATGAATTCATCTTCAGACATGGAGCCTTCTTTGATCATCTTGATGGCCACGTCGTACTGGCCTCTCCATTTCCCATACTTCACTACCCCAAATTGTCCAGTCCCCAGCTCCTTCAAGAAGGTCAGGTCCTTTGGATCAA... |
Task1_train_30566 | Assess the clinical impact of this variant on gene BTK (Bruton tyrosine kinase), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not specified | AAAAAGACCCAAGACAACGACAAAGCCCTTTATGAATCTATGTTTTTGCAGTCCCAGTCGTAGCCACTAGAGGAAGAAAATCAGTGAATAACTTTTGCTTGGATCTGTCTTGAGCGTCCTTGAGGCAGCTGCTGCAGAACAGTGTACCTCAAGGACACTCCCTAAGGCAAGGCCAGCAAAGGTAGTTTTTGCAACTGGCCAGTCCACCCTACCCCAGAGAAATAAGGAGTTACCGTATCCCAGGCCTGCAGTGGAAGGTGCATTCTTGTTTTGTTGAGACACTGGATATTTGAGCCTGGATATGAGTCCTGAAACAGAGA... | AAAAAGACCCAAGACAACGACAAAGCCCTTTATGAATCTATGTTTTTGCAGTCCCAGTCGTAGCCACTAGAGGAAGAAAATCAGTGAATAACTTTTGCTTGGATCTGTCTTGAGCGTCCTTGAGGCAGCTGCTGCAGAACAGTGTACCTCAAGGACACTCCCTAAGGCAAGGCCAGCAAAGGTAGTTTTTGCAACTGGCCAGTCCACCCTACCCCAGAGAAATAAGGAGTTACCGTATCCCAGGCCTGCAGTGGAAGGTGCATTCTTGTTTTGTTGAGACACTGGATATTTGAGCCTGGATATGAGTCCTGAAACAGAGA... |
Task1_train_30567 | A mutation in BTK (Bruton tyrosine kinase), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; X-linked agammaglobulinemia | AAAAAGACCCAAGACAACGACAAAGCCCTTTATGAATCTATGTTTTTGCAGTCCCAGTCGTAGCCACTAGAGGAAGAAAATCAGTGAATAACTTTTGCTTGGATCTGTCTTGAGCGTCCTTGAGGCAGCTGCTGCAGAACAGTGTACCTCAAGGACACTCCCTAAGGCAAGGCCAGCAAAGGTAGTTTTTGCAACTGGCCAGTCCACCCTACCCCAGAGAAATAAGGAGTTACCGTATCCCAGGCCTGCAGTGGAAGGTGCATTCTTGTTTTGTTGAGACACTGGATATTTGAGCCTGGATATGAGTCCTGAAACAGAGA... | AAAAAGACCCAAGACAACGACAAAGCCCTTTATGAATCTATGTTTTTGCAGTCCCAGTCGTAGCCACTAGAGGAAGAAAATCAGTGAATAACTTTTGCTTGGATCTGTCTTGAGCGTCCTTGAGGCAGCTGCTGCAGAACAGTGTACCTCAAGGACACTCCCTAAGGCAAGGCCAGCAAAGGTAGTTTTTGCAACTGGCCAGTCCACCCTACCCCAGAGAAATAAGGAGTTACCGTATCCCAGGCCTGCAGTGGAAGGTGCATTCTTGTTTTGTTGAGACACTGGATATTTGAGCCTGGATATGAGTCCTGAAACAGAGA... |
Task1_train_30568 | A variant has been detected on Chromosome X in BTK (Bruton tyrosine kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | AAAAAGACCCAAGACAACGACAAAGCCCTTTATGAATCTATGTTTTTGCAGTCCCAGTCGTAGCCACTAGAGGAAGAAAATCAGTGAATAACTTTTGCTTGGATCTGTCTTGAGCGTCCTTGAGGCAGCTGCTGCAGAACAGTGTACCTCAAGGACACTCCCTAAGGCAAGGCCAGCAAAGGTAGTTTTTGCAACTGGCCAGTCCACCCTACCCCAGAGAAATAAGGAGTTACCGTATCCCAGGCCTGCAGTGGAAGGTGCATTCTTGTTTTGTTGAGACACTGGATATTTGAGCCTGGATATGAGTCCTGAAACAGAGA... | AAAAAGACCCAAGACAACGACAAAGCCCTTTATGAATCTATGTTTTTGCAGTCCCAGTCGTAGCCACTAGAGGAAGAAAATCAGTGAATAACTTTTGCTTGGATCTGTCTTGAGCGTCCTTGAGGCAGCTGCTGCAGAACAGTGTACCTCAAGGACACTCCCTAAGGCAAGGCCAGCAAAGGTAGTTTTTGCAACTGGCCAGTCCACCCTACCCCAGAGAAATAAGGAGTTACCGTATCCCAGGCCTGCAGTGGAAGGTGCATTCTTGTTTTGTTGAGACACTGGATATTTGAGCCTGGATATGAGTCCTGAAACAGAGA... |
Task1_train_30569 | Given a variant located on Chromosome X and affecting BTK (Bruton tyrosine kinase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | GTCTCTGCAAATATTTCTGTGGCTGGAGATAGTATATTGGTTCAGGACATGGAGTCTGGGGCCTGAATTCAAAGCCTGACCCTGCCATTTACCAACCGAGGGCCTTTGGGCAAGTTACTTAACCTCTCTGTACCTCAGCTTTCTTATCTGTAAAATGGGGATGACAAGATAACTGCCTCATATGGTTAATACAAAGTTAATATATGTAAAGAACTTAAAGAAGAGCCTGTATCACAATAAGCAGTATTAAAGAGTTTGCTCATTTTGTAGCCCCAGGGCTAAAGCAGACCCCTTATCTTAAAATATGCCAAGAACTGAAC... | GTCTCTGCAAATATTTCTGTGGCTGGAGATAGTATATTGGTTCAGGACATGGAGTCTGGGGCCTGAATTCAAAGCCTGACCCTGCCATTTACCAACCGAGGGCCTTTGGGCAAGTTACTTAACCTCTCTGTACCTCAGCTTTCTTATCTGTAAAATGGGGATGACAAGATAACTGCCTCATATGGTTAATACAAAGTTAATATATGTAAAGAACTTAAAGAAGAGCCTGTATCACAATAAGCAGTATTAAAGAGTTTGCTCATTTTGTAGCCCCAGGGCTAAAGCAGACCCCTTATCTTAAAATATGCCAAGAACTGAAC... |
Task1_train_30570 | A variant has been detected on Chromosome X in BTK (Bruton tyrosine kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; X-linked agammaglobulinemia | TATTTCTGTGGCTGGAGATAGTATATTGGTTCAGGACATGGAGTCTGGGGCCTGAATTCAAAGCCTGACCCTGCCATTTACCAACCGAGGGCCTTTGGGCAAGTTACTTAACCTCTCTGTACCTCAGCTTTCTTATCTGTAAAATGGGGATGACAAGATAACTGCCTCATATGGTTAATACAAAGTTAATATATGTAAAGAACTTAAAGAAGAGCCTGTATCACAATAAGCAGTATTAAAGAGTTTGCTCATTTTGTAGCCCCAGGGCTAAAGCAGACCCCTTATCTTAAAATATGCCAAGAACTGAACTGTGTATTGCA... | TATTTCTGTGGCTGGAGATAGTATATTGGTTCAGGACATGGAGTCTGGGGCCTGAATTCAAAGCCTGACCCTGCCATTTACCAACCGAGGGCCTTTGGGCAAGTTACTTAACCTCTCTGTACCTCAGCTTTCTTATCTGTAAAATGGGGATGACAAGATAACTGCCTCATATGGTTAATACAAAGTTAATATATGTAAAGAACTTAAAGAAGAGCCTGTATCACAATAAGCAGTATTAAAGAGTTTGCTCATTTTGTAGCCCCAGGGCTAAAGCAGACCCCTTATCTTAAAATATGCCAAGAACTGAACTGTGTATTGCA... |
Task1_train_30571 | A variant was discovered on Chromosome X, affecting BTK (Bruton tyrosine kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | TCTGTGGCTGGAGATAGTATATTGGTTCAGGACATGGAGTCTGGGGCCTGAATTCAAAGCCTGACCCTGCCATTTACCAACCGAGGGCCTTTGGGCAAGTTACTTAACCTCTCTGTACCTCAGCTTTCTTATCTGTAAAATGGGGATGACAAGATAACTGCCTCATATGGTTAATACAAAGTTAATATATGTAAAGAACTTAAAGAAGAGCCTGTATCACAATAAGCAGTATTAAAGAGTTTGCTCATTTTGTAGCCCCAGGGCTAAAGCAGACCCCTTATCTTAAAATATGCCAAGAACTGAACTGTGTATTGCAGGAT... | TCTGTGGCTGGAGATAGTATATTGGTTCAGGACATGGAGTCTGGGGCCTGAATTCAAAGCCTGACCCTGCCATTTACCAACCGAGGGCCTTTGGGCAAGTTACTTAACCTCTCTGTACCTCAGCTTTCTTATCTGTAAAATGGGGATGACAAGATAACTGCCTCATATGGTTAATACAAAGTTAATATATGTAAAGAACTTAAAGAAGAGCCTGTATCACAATAAGCAGTATTAAAGAGTTTGCTCATTTTGTAGCCCCAGGGCTAAAGCAGACCCCTTATCTTAAAATATGCCAAGAACTGAACTGTGTATTGCAGGAT... |
Task1_train_30572 | A variant found in Chromosome X affects BTK (Bruton tyrosine kinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | TAGTGTTGGAAAAAATGTACAGAAACAGGCACTCTCATACATAGCTTGTAGGTGTGTATGAAATTCAATTCCACTTCTAGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTC... | TAGTGTTGGAAAAAATGTACAGAAACAGGCACTCTCATACATAGCTTGTAGGTGTGTATGAAATTCAATTCCACTTCTAGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTC... |
Task1_train_30573 | The gene BTK (Bruton tyrosine kinase) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; X-linked agammaglobulinemia | AAACAGGCACTCTCATACATAGCTTGTAGGTGTGTATGAAATTCAATTCCACTTCTAGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGA... | AAACAGGCACTCTCATACATAGCTTGTAGGTGTGTATGAAATTCAATTCCACTTCTAGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGA... |
Task1_train_30574 | A mutation on Chromosome X affecting BTK (Bruton tyrosine kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | ATACATAGCTTGTAGGTGTGTATGAAATTCAATTCCACTTCTAGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCAT... | ATACATAGCTTGTAGGTGTGTATGAAATTCAATTCCACTTCTAGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCAT... |
Task1_train_30575 | A variant on Chromosome X in gene BTK (Bruton tyrosine kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; X-linked agammaglobulinemia | ATACATAGCTTGTAGGTGTGTATGAAATTCAATTCCACTTCTAGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCAT... | ATACATAGCTTGTAGGTGTGTATGAAATTCAATTCCACTTCTAGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCAT... |
Task1_train_30576 | A variant was discovered in gene BTK (Bruton tyrosine kinase), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | ATACATAGCTTGTAGGTGTGTATGAAATTCAATTCCACTTCTAGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCAT... | ATACATAGCTTGTAGGTGTGTATGAAATTCAATTCCACTTCTAGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCAT... |
Task1_train_30577 | A genomic change on Chromosome X affects BTK (Bruton tyrosine kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; X-linked agammaglobulinemia | TACATAGCTTGTAGGTGTGTATGAAATTCAATTCCACTTCTAGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCATG... | TACATAGCTTGTAGGTGTGTATGAAATTCAATTCCACTTCTAGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCATG... |
Task1_train_30578 | Mutation context: Chromosome X, Gene BTK (Bruton tyrosine kinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | TACATAGCTTGTAGGTGTGTATGAAATTCAATTCCACTTCTAGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCATG... | TACATAGCTTGTAGGTGTGTATGAAATTCAATTCCACTTCTAGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCATG... |
Task1_train_30579 | Chromosome X houses a mutation in gene BTK (Bruton tyrosine kinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | AGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCATGGGGAAAAGTTTCCCACATATCGTTACATTGAAAAAGTACGT... | AGAAAATGAAATAAAAAGATAAAAATAACCAAAGTGCACAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCATGGGGAAAAGTTTCCCACATATCGTTACATTGAAAAAGTACGT... |
Task1_train_30580 | This alteration occurs within gene BTK (Bruton tyrosine kinase) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | CAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCATGGGGAAAAGTTTCCCACATATCGTTACATTGAAAAAGTACGTTACAAAGCAAGATGTGTACTATGAGTCTATGTTTTAAA... | CAGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCATGGGGAAAAGTTTCCCACATATCGTTACATTGAAAAAGTACGTTACAAAGCAAGATGTGTACTATGAGTCTATGTTTTAAA... |
Task1_train_30581 | Here is a genetic alteration in BTK (Bruton tyrosine kinase) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; X-linked agammaglobulinemia with growth hormone deficiency | AGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCATGGGGAAAAGTTTCCCACATATCGTTACATTGAAAAAGTACGTTACAAAGCAAGATGTGTACTATGAGTCTATGTTTTAAAT... | AGATTTTCTTAAAGAGAAGAACAAAATTTTACTTCTAGGAAATTATCATAAGGAAAAGAATAAAAAAAGTACAGAAAGATGTATGCAAGATTGTTCCTCTCAACATGGTTTATACTATCAAGTACTTGTAGACAAACCGAATGTGTAATAATGGGAGATTAAACAAATTACAATACATCCATAATAGGGAATACCATACAGTCATTAAAATCATGTTATTAAAGAATATCTATTGTCATGGGGAAAAGTTTCCCACATATCGTTACATTGAAAAAGTACGTTACAAAGCAAGATGTGTACTATGAGTCTATGTTTTAAAT... |
Task1_train_30582 | This gene mutation involves GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Fabry disease | TGCTGTTCATCTTTTGGGAGGGAATAAGCTAGAGCCATCAATACAATTCCGCTTGTGGGGAAATTTATGCCTCTTACTGGTACTACTTGTTTTGCATTGAAGCTGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAAT... | TGCTGTTCATCTTTTGGGAGGGAATAAGCTAGAGCCATCAATACAATTCCGCTTGTGGGGAAATTTATGCCTCTTACTGGTACTACTTGTTTTGCATTGAAGCTGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAAT... |
Task1_train_30583 | This sequence variant lies in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Fabry disease | GGAGGGAATAAGCTAGAGCCATCAATACAATTCCGCTTGTGGGGAAATTTATGCCTCTTACTGGTACTACTTGTTTTGCATTGAAGCTGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTG... | GGAGGGAATAAGCTAGAGCCATCAATACAATTCCGCTTGTGGGGAAATTTATGCCTCTTACTGGTACTACTTGTTTTGCATTGAAGCTGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTG... |
Task1_train_30584 | With a mutation on Chromosome X in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Fabry disease | GGGAATAAGCTAGAGCCATCAATACAATTCCGCTTGTGGGGAAATTTATGCCTCTTACTGGTACTACTTGTTTTGCATTGAAGCTGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCA... | GGGAATAAGCTAGAGCCATCAATACAATTCCGCTTGTGGGGAAATTTATGCCTCTTACTGGTACTACTTGTTTTGCATTGAAGCTGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCA... |
Task1_train_30585 | Given a variant located on Chromosome X and affecting GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Fabry disease | TGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATA... | TGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATA... |
Task1_train_30586 | A variant was discovered in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Fabry disease | TGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATA... | TGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATA... |
Task1_train_30587 | Here is a mutation in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Fabry disease | GGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAG... | GGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAG... |
Task1_train_30588 | A variant has been detected on Chromosome X in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Fabry disease | GGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAG... | GGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAG... |
Task1_train_30589 | Given this variant in gene RPL36A-HNRNPH2, GLA (RPL36A-HNRNPH2 readthrough| galactosidase alpha) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Fabry disease | AGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAA... | AGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAA... |
Task1_train_30590 | Given this variant in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; GLA-related disorder | TTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCC... | TTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCC... |
Task1_train_30591 | This sequence variant lies in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Fabry disease | TTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCC... | TTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCC... |
Task1_train_30592 | Gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Fabry disease | CATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGG... | CATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGG... |
Task1_train_30593 | Given a variant located on Chromosome X and affecting GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Fabry disease | CACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGGAGTTTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCT... | CACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGGAGTTTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCT... |
Task1_train_30594 | This variant impacts the gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Fabry disease | TTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGGAGTTTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTCGTA... | TTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGGAGTTTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTCGTA... |
Task1_train_30595 | Gene RPL36A-HNRNPH2, GLA (RPL36A-HNRNPH2 readthrough| galactosidase alpha), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Fabry disease | TTTTTTTTGAGACAGGGTCTCCCTCTCGTAAGTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCT... | TTTTTTTTGAGACAGGGTCTCCCTCTCGTAAGTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCT... |
Task1_train_30596 | Here is a mutation in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Fabry disease | TTTTTTTGAGACAGGGTCTCCCTCTCGTAAGTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTT... | TTTTTTTGAGACAGGGTCTCCCTCTCGTAAGTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTT... |
Task1_train_30597 | This variant lies on Chromosome X and affects the gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Fabry disease | CTCCCTCTCGTAAGTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACA... | CTCCCTCTCGTAAGTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACA... |
Task1_train_30598 | Here is a genetic alteration in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | TCCCTCTCGTAAGTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAG... | TCCCTCTCGTAAGTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAG... |
Task1_train_30599 | This variant affects gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Fabry disease | CTCTCGTAAGTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTC... | CTCTCGTAAGTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTC... |
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