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_27000 | Given a variant located on Chromosome 19 and affecting SLC7A9 (solute carrier family 7 member 9), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cystinuria | GCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGAAATAATTCACTGTCGGGAAGGGCATCATGGAATACCCAGGGAAATAGCTCCAGCCTTCACCAGGAGAAGAGAAATCAGGCTGCCCGGCTACTGTCCTCTGCACTGATTCAGCTGTTACCTGTAAGGGTTTCTAAGTTCTTCTGTGATGTAATTGAGTTGATTCCTGGAAAAAGGAAAGTAACAAGCGTCACACACCTTGACTTTCTTTTTCGATAATGAAACCCACAATAATAAATGTTGGCCTCATTTAAGATTCTCTACCAGAG... | GCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGAAATAATTCACTGTCGGGAAGGGCATCATGGAATACCCAGGGAAATAGCTCCAGCCTTCACCAGGAGAAGAGAAATCAGGCTGCCCGGCTACTGTCCTCTGCACTGATTCAGCTGTTACCTGTAAGGGTTTCTAAGTTCTTCTGTGATGTAATTGAGTTGATTCCTGGAAAAAGGAAAGTAACAAGCGTCACACACCTTGACTTTCTTTTTCGATAATGAAACCCACAATAATAAATGTTGGCCTCATTTAAGATTCTCTACCAGAG... |
Task1_train_27001 | A mutation found in SLC7A9 (solute carrier family 7 member 9) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cystinuria | GCATCATGGAATACCCAGGGAAATAGCTCCAGCCTTCACCAGGAGAAGAGAAATCAGGCTGCCCGGCTACTGTCCTCTGCACTGATTCAGCTGTTACCTGTAAGGGTTTCTAAGTTCTTCTGTGATGTAATTGAGTTGATTCCTGGAAAAAGGAAAGTAACAAGCGTCACACACCTTGACTTTCTTTTTCGATAATGAAACCCACAATAATAAATGTTGGCCTCATTTAAGATTCTCTACCAGAGAAAAAAATTCTCCTGCAGGAATTCCAGGTGAATTTTTTTCCAGGTGAATGGCCCTGCTAGTGGTGGGGCCTGGGG... | GCATCATGGAATACCCAGGGAAATAGCTCCAGCCTTCACCAGGAGAAGAGAAATCAGGCTGCCCGGCTACTGTCCTCTGCACTGATTCAGCTGTTACCTGTAAGGGTTTCTAAGTTCTTCTGTGATGTAATTGAGTTGATTCCTGGAAAAAGGAAAGTAACAAGCGTCACACACCTTGACTTTCTTTTTCGATAATGAAACCCACAATAATAAATGTTGGCCTCATTTAAGATTCTCTACCAGAGAAAAAAATTCTCCTGCAGGAATTCCAGGTGAATTTTTTTCCAGGTGAATGGCCCTGCTAGTGGTGGGGCCTGGGG... |
Task1_train_27002 | A variant was discovered in gene SLC7A9 (solute carrier family 7 member 9), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cystinuria | CGCCAGGCTGATGGCTCCCACAGACAGCTGGGCGCCCTCGAAAGAATTATCAAAATTCTTTGTGTTTCCTGTAATGAAGCCAGACAGTGAACGGCGGGTGTCAACCGGGCAGATCTTGAGTGTATCTCCACGGGAAAGATGGGCATGATTGTGACCCCAGCTTAATAAACACGCCCTGAAACTAAGGATCCCTCCCACCGAGTTCCTGCCATGCTTCCTTGGAGATGGGCTCGTGGGGCAAGGCTGCTCCTGCTCCCAGTGGAAGGGCGTTTGGTGTGTGCCCGTGCAGGGCCCACCCTCCCGTGGGTCACCTTGGGCCA... | CGCCAGGCTGATGGCTCCCACAGACAGCTGGGCGCCCTCGAAAGAATTATCAAAATTCTTTGTGTTTCCTGTAATGAAGCCAGACAGTGAACGGCGGGTGTCAACCGGGCAGATCTTGAGTGTATCTCCACGGGAAAGATGGGCATGATTGTGACCCCAGCTTAATAAACACGCCCTGAAACTAAGGATCCCTCCCACCGAGTTCCTGCCATGCTTCCTTGGAGATGGGCTCGTGGGGCAAGGCTGCTCCTGCTCCCAGTGGAAGGGCGTTTGGTGTGTGCCCGTGCAGGGCCCACCCTCCCGTGGGTCACCTTGGGCCA... |
Task1_train_27003 | The gene SLC7A9 (solute carrier family 7 member 9), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cystinuria | TTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGT... | TTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGT... |
Task1_train_27004 | A variant was discovered on Chromosome 19, affecting SLC7A9 (solute carrier family 7 member 9). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cystine urolithiasis | TTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGT... | TTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGT... |
Task1_train_27005 | This alteration occurs within gene SLC7A9 (solute carrier family 7 member 9) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Cystinuria | AGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGA... | AGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGA... |
Task1_train_27006 | This alteration occurs within gene CEBPA (CCAAT enhancer binding protein alpha) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Acute myeloid leukemia | GGGCTGGGCAGGTGTGGAGGGCTGGATGGAGGGGTCTCTCTCTTCAGGCTGCCTTCGGGCCTCGCAGGGGTAGGGTGTAGCCACATGGTCTAGGGAAAGAGGAGAGGGTTGGAGGGTCCTACCACTGGAGGCCTCTTCCTGCTGGCCGAGGGTCCTGCTGGAATCTGGAGCTGCGGTGTGTGTGAGTGGCCAGGGCTGCAGCTGTAGGTGATTTGCAAGGAAGTCTGCACAAAGGGCTCCTTGAGCCTAGGGCTGCTTAGCCAGGCCTACCCCTCAGGCAGAGGACTCCCTCTCCTCCTCCCCGGGGCAGATAAGAAGCC... | GGGCTGGGCAGGTGTGGAGGGCTGGATGGAGGGGTCTCTCTCTTCAGGCTGCCTTCGGGCCTCGCAGGGGTAGGGTGTAGCCACATGGTCTAGGGAAAGAGGAGAGGGTTGGAGGGTCCTACCACTGGAGGCCTCTTCCTGCTGGCCGAGGGTCCTGCTGGAATCTGGAGCTGCGGTGTGTGTGAGTGGCCAGGGCTGCAGCTGTAGGTGATTTGCAAGGAAGTCTGCACAAAGGGCTCCTTGAGCCTAGGGCTGCTTAGCCAGGCCTACCCCTCAGGCAGAGGACTCCCTCTCCTCCTCCCCGGGGCAGATAAGAAGCC... |
Task1_train_27007 | An alteration has been detected in CEBPA (CCAAT enhancer binding protein alpha) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Acute myeloid leukemia | GTTGGCGGGAGGCCACCTCCCTTCCCGACCAGGAGCCAGGGCCTCTGGGGGACAAGCCTTGTGGGCAGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGG... | GTTGGCGGGAGGCCACCTCCCTTCCCGACCAGGAGCCAGGGCCTCTGGGGGACAAGCCTTGTGGGCAGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGG... |
Task1_train_27008 | This gene mutation involves CEBPA (CCAAT enhancer binding protein alpha) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Acute myeloid leukemia | GGCAGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCG... | GGCAGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCG... |
Task1_train_27009 | Chromosome 19 houses a mutation in gene PEPD (peptidase D). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Prolidase deficiency | CTTGGCTTGGGAACTCTTGGATGGGAGCTCTGTGAGAAGGCAAACCTGGAATGGTGTACAGAATTCTAGAAACCAGCTCCAGGGGTGGGCTGTTCTGCGGGACCCTGGGAGAACTGGACAAGCAGAGGCAAGGACAGATACTTCACCAGGCATGGCTGGGCCCTGGCTGGCTTCCTGCCTGGTAGAATTTGTTCAAGGACTACACTTAGGGAGGACAAGCGGTCTCTGCAAATTGGCTGTGGCGCTGCCTTCGTTGGCAGTGTCTCCGACAGATGCTGGCTTTGGCTAGTGTGTCCCACATGAAAAAGAAATCAAGGACA... | CTTGGCTTGGGAACTCTTGGATGGGAGCTCTGTGAGAAGGCAAACCTGGAATGGTGTACAGAATTCTAGAAACCAGCTCCAGGGGTGGGCTGTTCTGCGGGACCCTGGGAGAACTGGACAAGCAGAGGCAAGGACAGATACTTCACCAGGCATGGCTGGGCCCTGGCTGGCTTCCTGCCTGGTAGAATTTGTTCAAGGACTACACTTAGGGAGGACAAGCGGTCTCTGCAAATTGGCTGTGGCGCTGCCTTCGTTGGCAGTGTCTCCGACAGATGCTGGCTTTGGCTAGTGTGTCCCACATGAAAAAGAAATCAAGGACA... |
Task1_train_27010 | A mutation in PEPD (peptidase D), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Prolidase deficiency | CTGACTGCTCAGAACTCCTTCCAGGGCAAGACCTTAAAAAGACACTCGTCCCCTAAGCACAGCCACAGCGAACTGAAGCATCCAAGCAGCCCACTACGGGCCCCATCCGACCTCGGCCCTGCACCCCACTGATGGCAGGCAGGCCAGCCTGGGAGGGTGATATGGAGCCAGCACCCCCAGGGCCGGGGCTCTGAACAGAGCAGGCCCTGAGGACATCTGGGGTGGACTTGGGCCCTGCAAGGGGGGTAAGGGATACCAGAAACCAAGCTCTCACAAGGACAGGCAGGAAAGGAAAGCCCAGAGTGAGGACATGGGGATGG... | CTGACTGCTCAGAACTCCTTCCAGGGCAAGACCTTAAAAAGACACTCGTCCCCTAAGCACAGCCACAGCGAACTGAAGCATCCAAGCAGCCCACTACGGGCCCCATCCGACCTCGGCCCTGCACCCCACTGATGGCAGGCAGGCCAGCCTGGGAGGGTGATATGGAGCCAGCACCCCCAGGGCCGGGGCTCTGAACAGAGCAGGCCCTGAGGACATCTGGGGTGGACTTGGGCCCTGCAAGGGGGGTAAGGGATACCAGAAACCAAGCTCTCACAAGGACAGGCAGGAAAGGAAAGCCCAGAGTGAGGACATGGGGATGG... |
Task1_train_27011 | Gene PEPD (peptidase D), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AAGCACAGCCACAGCGAACTGAAGCATCCAAGCAGCCCACTACGGGCCCCATCCGACCTCGGCCCTGCACCCCACTGATGGCAGGCAGGCCAGCCTGGGAGGGTGATATGGAGCCAGCACCCCCAGGGCCGGGGCTCTGAACAGAGCAGGCCCTGAGGACATCTGGGGTGGACTTGGGCCCTGCAAGGGGGGTAAGGGATACCAGAAACCAAGCTCTCACAAGGACAGGCAGGAAAGGAAAGCCCAGAGTGAGGACATGGGGATGGCAGCCTCTTCAGTGTCACCTCCCCAGAGCTTCCAGGTGGTACCAACACTGGTGG... | AAGCACAGCCACAGCGAACTGAAGCATCCAAGCAGCCCACTACGGGCCCCATCCGACCTCGGCCCTGCACCCCACTGATGGCAGGCAGGCCAGCCTGGGAGGGTGATATGGAGCCAGCACCCCCAGGGCCGGGGCTCTGAACAGAGCAGGCCCTGAGGACATCTGGGGTGGACTTGGGCCCTGCAAGGGGGGTAAGGGATACCAGAAACCAAGCTCTCACAAGGACAGGCAGGAAAGGAAAGCCCAGAGTGAGGACATGGGGATGGCAGCCTCTTCAGTGTCACCTCCCCAGAGCTTCCAGGTGGTACCAACACTGGTGG... |
Task1_train_27012 | With a mutation on Chromosome 19 in gene PEPD (peptidase D), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Prolidase deficiency | CTGTTTTGCCTCCCTCACCCACCCTGTGTGGTGGCCCAGAGAATCGGTTCTGCTAGAAAAGCTCTCATTCTGGGGCCAGGCGTGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCGGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAAATTAGCTGAGTGTGGTGGCACACGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGAAGACTCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCATCATGCCATTGCAC... | CTGTTTTGCCTCCCTCACCCACCCTGTGTGGTGGCCCAGAGAATCGGTTCTGCTAGAAAAGCTCTCATTCTGGGGCCAGGCGTGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCGGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAAATTAGCTGAGTGTGGTGGCACACGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGAAGACTCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCATCATGCCATTGCAC... |
Task1_train_27013 | This genomic variant is located on Chromosome 19, within the GPI (glucose-6-phosphate isomerase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | GGAGGCAGAGGCTGTAGTGAGACAAGATCGTGTCACTGCACTCCAACCTGGGTGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAGAAGGAGGAGTCAGAGGGAGTCAGTGGTTACTATTGGGCTAGAGTCATCTGAGGAATCACAGGGTAAGTGATAATGGGGCAGTGGCTACTGAGACTCGCCTTCCCATTGGTTGAGGTTTTGTTCTGAAACAGAGGATTTGGGGTGGGAATTCTCTTCTGTGTAGATGAGTAACTGGCTTAGAAAACCCTGATTGGAGTGTTTCTCAGAACCCCCGTAGAGGCCAGGCGCAG... | GGAGGCAGAGGCTGTAGTGAGACAAGATCGTGTCACTGCACTCCAACCTGGGTGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAGAAGGAGGAGTCAGAGGGAGTCAGTGGTTACTATTGGGCTAGAGTCATCTGAGGAATCACAGGGTAAGTGATAATGGGGCAGTGGCTACTGAGACTCGCCTTCCCATTGGTTGAGGTTTTGTTCTGAAACAGAGGATTTGGGGTGGGAATTCTCTTCTGTGTAGATGAGTAACTGGCTTAGAAAACCCTGATTGGAGTGTTTCTCAGAACCCCCGTAGAGGCCAGGCGCAG... |
Task1_train_27014 | This variant impacts the gene GPI (glucose-6-phosphate isomerase) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | ACCTGGGTGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAGAAGGAGGAGTCAGAGGGAGTCAGTGGTTACTATTGGGCTAGAGTCATCTGAGGAATCACAGGGTAAGTGATAATGGGGCAGTGGCTACTGAGACTCGCCTTCCCATTGGTTGAGGTTTTGTTCTGAAACAGAGGATTTGGGGTGGGAATTCTCTTCTGTGTAGATGAGTAACTGGCTTAGAAAACCCTGATTGGAGTGTTTCTCAGAACCCCCGTAGAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGC... | ACCTGGGTGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAGAAGGAGGAGTCAGAGGGAGTCAGTGGTTACTATTGGGCTAGAGTCATCTGAGGAATCACAGGGTAAGTGATAATGGGGCAGTGGCTACTGAGACTCGCCTTCCCATTGGTTGAGGTTTTGTTCTGAAACAGAGGATTTGGGGTGGGAATTCTCTTCTGTGTAGATGAGTAACTGGCTTAGAAAACCCTGATTGGAGTGTTTCTCAGAACCCCCGTAGAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGC... |
Task1_train_27015 | This alteration occurs within gene GPI (glucose-6-phosphate isomerase) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | CACCTCCTCTGTGCTGGTGAGGCACCTGTCCCTGGCTTAGGTTCTAAGCAGCATCCCAGGGACCCCAGTGTCTGATGTCTGAGTAGACCCTTCCCAGACAGCAGGGGAGGGAACCAGACAGCAGCCGTCTGTCTGTCTCATTGGGGACAGCACCAAGCCTTGTGTTTGGGGGCTGACACTTGGGGTGGCCAGTGTGGGTGGGACCAGGCCTCAGTATCGTCTCTTCCTAGGCCAAGTCCAGGGGCGTGGAGGCCGCCCGGGAGCGGATGTTCAATGGTGAGAAGATCAACTACACCGAGGTGAGCAGGCCCCACATACCC... | CACCTCCTCTGTGCTGGTGAGGCACCTGTCCCTGGCTTAGGTTCTAAGCAGCATCCCAGGGACCCCAGTGTCTGATGTCTGAGTAGACCCTTCCCAGACAGCAGGGGAGGGAACCAGACAGCAGCCGTCTGTCTGTCTCATTGGGGACAGCACCAAGCCTTGTGTTTGGGGGCTGACACTTGGGGTGGCCAGTGTGGGTGGGACCAGGCCTCAGTATCGTCTCTTCCTAGGCCAAGTCCAGGGGCGTGGAGGCCGCCCGGGAGCGGATGTTCAATGGTGAGAAGATCAACTACACCGAGGTGAGCAGGCCCCACATACCC... |
Task1_train_27016 | This alteration in GPI (glucose-6-phosphate isomerase) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | GGATTTGGTTCTGTTCATGTCTGAGGAGGTAGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAG... | GGATTTGGTTCTGTTCATGTCTGAGGAGGTAGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAG... |
Task1_train_27017 | A variant on Chromosome 19 in gene GPI (glucose-6-phosphate isomerase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | GTTCTGTTCATGTCTGAGGAGGTAGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGA... | GTTCTGTTCATGTCTGAGGAGGTAGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGA... |
Task1_train_27018 | Here is a variant affecting GPI (glucose-6-phosphate isomerase) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | TCTGAGGAGGTAGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAAT... | TCTGAGGAGGTAGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAAT... |
Task1_train_27019 | The gene GPI (glucose-6-phosphate isomerase) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | AGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAATCTGGTACAGGT... | AGGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAATCTGGTACAGGT... |
Task1_train_27020 | A sequence alteration has been identified in GPI (glucose-6-phosphate isomerase) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | GGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAATCTGGTACAGGTG... | GGATCTGGTGCAGGTATAAGGATCTGGGTCTTTCAATGTCTGAGAAGGTAGGATCTGGTACAGGTGTGAGGATCTGGGTCTGTTAATGTCTGAGGAGGTAGGATCTGGCACTGGTAAGAGGATCTGCATCTGTCAGTTTCTGAGGAGGTAGGATCTGGCCCTAGTAAGAAGATCTCAGTCTGTCAATTTCTGAGGAGGTTGGATCTGGCCCCCTTATGAGGATCTGAGTCTGTCAATATCTGAAGAGGTAGGAATCTGGTACAGGTATGAGGATCTGTGTGTGTGTCAGTGTCTGAGGAATTAGGAATCTGGTACAGGTG... |
Task1_train_27021 | Given this context: Chromosome 19, gene GPI (glucose-6-phosphate isomerase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | GTCCTGGCTTGACTCAGGGGATGTTTCTCAGCTGGGGTCACTTCTTTCTTGCACATCACTATGCATGCCTACCATAGTGTCTGAGGACGTAGGATCTAGCCCTGGTATGAGGCCCTAGGTCTGTTAGTATCTGGGGAGGAAGGATCTGGTACAGGTATGAGGACCTGGGTCTGTCCATGTCTGAGGAGGTGGGATTTGGCCATAGGGTGGGGCTGCAAGCTGGAATCCCTTATAGCCTGCACTGCCTTTATCCCTCCAGAAAAGCAAGTGTGTATCTAGTCTGTGGTGGCCTCTTTGGACTACATGGCCCTCTTCTCCCT... | GTCCTGGCTTGACTCAGGGGATGTTTCTCAGCTGGGGTCACTTCTTTCTTGCACATCACTATGCATGCCTACCATAGTGTCTGAGGACGTAGGATCTAGCCCTGGTATGAGGCCCTAGGTCTGTTAGTATCTGGGGAGGAAGGATCTGGTACAGGTATGAGGACCTGGGTCTGTCCATGTCTGAGGAGGTGGGATTTGGCCATAGGGTGGGGCTGCAAGCTGGAATCCCTTATAGCCTGCACTGCCTTTATCCCTCCAGAAAAGCAAGTGTGTATCTAGTCTGTGGTGGCCTCTTTGGACTACATGGCCCTCTTCTCCCT... |
Task1_train_27022 | The variant affects gene GPI (glucose-6-phosphate isomerase), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | AGGCTGGACTTACAGTGGCATGATCACAGTTCACTGTATTCTCAACGTCCCAGGCTCAAGCAGTCTTCCTGCCTCGGCCCCTCAAATAGCTGAGACTTACAGGCACTAACAGGCACTTACAGGCACTTACAGGCACTAACAGCCTGGCTAACTGTTAAACTTTTTGTAGAGGCCAGATTTCACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATTCTCCTGCCTCGGCCTCCCAAAGTTTTGGGATTACAGGCATGAGCTACCGTGCCTGGCCCTCTTTTACTTTTAAGGGCCAGTGTGATTAGATTGG... | AGGCTGGACTTACAGTGGCATGATCACAGTTCACTGTATTCTCAACGTCCCAGGCTCAAGCAGTCTTCCTGCCTCGGCCCCTCAAATAGCTGAGACTTACAGGCACTAACAGGCACTTACAGGCACTTACAGGCACTAACAGCCTGGCTAACTGTTAAACTTTTTGTAGAGGCCAGATTTCACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATTCTCCTGCCTCGGCCTCCCAAAGTTTTGGGATTACAGGCATGAGCTACCGTGCCTGGCCCTCTTTTACTTTTAAGGGCCAGTGTGATTAGATTGG... |
Task1_train_27023 | This variant lies on Chromosome 19 and affects the gene GPI (glucose-6-phosphate isomerase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hemolytic anemia due to glucophosphate isomerase deficiency | GGCTGGACTTACAGTGGCATGATCACAGTTCACTGTATTCTCAACGTCCCAGGCTCAAGCAGTCTTCCTGCCTCGGCCCCTCAAATAGCTGAGACTTACAGGCACTAACAGGCACTTACAGGCACTTACAGGCACTAACAGCCTGGCTAACTGTTAAACTTTTTGTAGAGGCCAGATTTCACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATTCTCCTGCCTCGGCCTCCCAAAGTTTTGGGATTACAGGCATGAGCTACCGTGCCTGGCCCTCTTTTACTTTTAAGGGCCAGTGTGATTAGATTGGG... | GGCTGGACTTACAGTGGCATGATCACAGTTCACTGTATTCTCAACGTCCCAGGCTCAAGCAGTCTTCCTGCCTCGGCCCCTCAAATAGCTGAGACTTACAGGCACTAACAGGCACTTACAGGCACTTACAGGCACTAACAGCCTGGCTAACTGTTAAACTTTTTGTAGAGGCCAGATTTCACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATTCTCCTGCCTCGGCCTCCCAAAGTTTTGGGATTACAGGCATGAGCTACCGTGCCTGGCCCTCTTTTACTTTTAAGGGCCAGTGTGATTAGATTGGG... |
Task1_train_27024 | A variant has been detected on Chromosome 19 in GPI (glucose-6-phosphate isomerase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | GCTGAGGCTGGAGTGCACTGGCCCAATCATAGCTCACTACAGCCTTGAACTCCTGGGCTCAAGCAATCCTTTTATCTCAGCCTCCTGAGTAGCTGGGACCACAGATGTACAACATGCCTGGCTAAGTTTTTTTTTTTTTTTAAAGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGTGCAGTGGCACAATCAGGCTCTCTGCAGCCTCACCCTCCTGGGCTCAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGAACAGGCACACGCCACCACACCCAGCTGATTTTTTTATTTTTATTTTTTGTAGAGATGG... | GCTGAGGCTGGAGTGCACTGGCCCAATCATAGCTCACTACAGCCTTGAACTCCTGGGCTCAAGCAATCCTTTTATCTCAGCCTCCTGAGTAGCTGGGACCACAGATGTACAACATGCCTGGCTAAGTTTTTTTTTTTTTTTAAAGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGTGCAGTGGCACAATCAGGCTCTCTGCAGCCTCACCCTCCTGGGCTCAAGCAATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGAACAGGCACACGCCACCACACCCAGCTGATTTTTTTATTTTTATTTTTTGTAGAGATGG... |
Task1_train_27025 | A variant on Chromosome 19 in gene SCN1B (sodium voltage-gated channel beta subunit 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Developmental and epileptic encephalopathy, 52 | TGAAAAGGGATAGACGTAGAAAGGTGGAAAGAGATTAGGAGAGGTCTCCTTCTGAGCCCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGC... | TGAAAAGGGATAGACGTAGAAAGGTGGAAAGAGATTAGGAGAGGTCTCCTTCTGAGCCCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGC... |
Task1_train_27026 | The gene SCN1B (sodium voltage-gated channel beta subunit 1) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cardiomyopathy | TTCTGAGCCCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGG... | TTCTGAGCCCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGG... |
Task1_train_27027 | This is a variant in SCN1B (sodium voltage-gated channel beta subunit 1), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Developmental and epileptic encephalopathy, 52 | CCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTT... | CCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTT... |
Task1_train_27028 | A variant has been detected on Chromosome 19 in SCN1B (sodium voltage-gated channel beta subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Developmental and epileptic encephalopathy, 52 | CCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGCCTGGGGAAG... | CCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGCCTGGGGAAG... |
Task1_train_27029 | Given this context: Chromosome 19, gene LGI4 (leucine rich repeat LGI family member 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | TGAGGACAGACCAGCTGAAATTGGGTGGAGGACCGTTCTCTGTCCCCAGGTCCTGTCTCTGCACAGAAACTTGAACTCCAGGATGGAATTCTTCCTCCTCTGCTGGGACTCCTTTGCATGGCAGGGCCTCATCTCACCTCTCGCAAGAGGGTCTCTTTGTTCAATTTTTTTTAATCTAAAATGATTGTGCCTCTGCCCAAGCAGCCTGGAGACTTCCTATGTGTGCATTGGGGTGGGGCTTGGGGCACCATGAGAAGGTTGGCGTGCCCTGGAGGCTGACACAGAGGCTGGCACTGAGCCTGCTTGTTGGGAAAAGCCCA... | TGAGGACAGACCAGCTGAAATTGGGTGGAGGACCGTTCTCTGTCCCCAGGTCCTGTCTCTGCACAGAAACTTGAACTCCAGGATGGAATTCTTCCTCCTCTGCTGGGACTCCTTTGCATGGCAGGGCCTCATCTCACCTCTCGCAAGAGGGTCTCTTTGTTCAATTTTTTTTAATCTAAAATGATTGTGCCTCTGCCCAAGCAGCCTGGAGACTTCCTATGTGTGCATTGGGGTGGGGCTTGGGGCACCATGAGAAGGTTGGCGTGCCCTGGAGGCTGACACAGAGGCTGGCACTGAGCCTGCTTGTTGGGAAAAGCCCA... |
Task1_train_27030 | The gene LGI4 (leucine rich repeat LGI family member 4) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | TTTCAGAGGGACCAGCGGGGTAGGAGCGGGTTGAGAGGGGGGCTCCGGGACCTCATGGAGCTCTGCACGTGACCTCCACCTCGACTCCATGCAGTGCACCAGCCTGCACCCCCCAGGTTGCCTTTGATGGGGAATCTGCCCCAGCCGAGATGTCCAGATGTTGCTTTAGACCTGAAGGGCAGCTCGGGAGGTCCAGTAGGCTGGGACCCTCTATGTCCCCCCATGGGTGCAGATCCTTTAAGAAGTGGGCTTAAGGCCTAGACGTGTGGCTGATGAACGTGGCCCACGGTCAGCAGCTCACAGGCGGGCCATCACCCCAA... | TTTCAGAGGGACCAGCGGGGTAGGAGCGGGTTGAGAGGGGGGCTCCGGGACCTCATGGAGCTCTGCACGTGACCTCCACCTCGACTCCATGCAGTGCACCAGCCTGCACCCCCCAGGTTGCCTTTGATGGGGAATCTGCCCCAGCCGAGATGTCCAGATGTTGCTTTAGACCTGAAGGGCAGCTCGGGAGGTCCAGTAGGCTGGGACCCTCTATGTCCCCCCATGGGTGCAGATCCTTTAAGAAGTGGGCTTAAGGCCTAGACGTGTGGCTGATGAACGTGGCCCACGGTCAGCAGCTCACAGGCGGGCCATCACCCCAA... |
Task1_train_27031 | This mutation occurs in LGI4 (leucine rich repeat LGI family member 4) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | TAGGAGCGGGTTGAGAGGGGGGCTCCGGGACCTCATGGAGCTCTGCACGTGACCTCCACCTCGACTCCATGCAGTGCACCAGCCTGCACCCCCCAGGTTGCCTTTGATGGGGAATCTGCCCCAGCCGAGATGTCCAGATGTTGCTTTAGACCTGAAGGGCAGCTCGGGAGGTCCAGTAGGCTGGGACCCTCTATGTCCCCCCATGGGTGCAGATCCTTTAAGAAGTGGGCTTAAGGCCTAGACGTGTGGCTGATGAACGTGGCCCACGGTCAGCAGCTCACAGGCGGGCCATCACCCCAAGTAGGGCCAGGAGCCAGCCA... | TAGGAGCGGGTTGAGAGGGGGGCTCCGGGACCTCATGGAGCTCTGCACGTGACCTCCACCTCGACTCCATGCAGTGCACCAGCCTGCACCCCCCAGGTTGCCTTTGATGGGGAATCTGCCCCAGCCGAGATGTCCAGATGTTGCTTTAGACCTGAAGGGCAGCTCGGGAGGTCCAGTAGGCTGGGACCCTCTATGTCCCCCCATGGGTGCAGATCCTTTAAGAAGTGGGCTTAAGGCCTAGACGTGTGGCTGATGAACGTGGCCCACGGTCAGCAGCTCACAGGCGGGCCATCACCCCAAGTAGGGCCAGGAGCCAGCCA... |
Task1_train_27032 | Here is a variant affecting LGI4 (leucine rich repeat LGI family member 4) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Arthrogryposis multiplex congenita 2, neurogenic type | CAATAACATCACCACCCACTCCCATCAACACCATCACCAATATCATCATTACCAAACTCCACACCAACAACACTAATAATCATCACCAACAACACAATCTTCATGATCAACACCAAAAAGATTGCCACCCGCATCTCCAATGCAGCACTATCACACACATCAGCATGAGCGCCACCAACACTGCCAACACTCACATCTCCATTATGCCCAAGATGCACATATTCACCCACCACCAGTACTACCACTGCCGGAGTTTCCATAAATACCAACACCTTCACCATCATCACCAACCCAGTACCAACAACATTGCCATTCATACC... | CAATAACATCACCACCCACTCCCATCAACACCATCACCAATATCATCATTACCAAACTCCACACCAACAACACTAATAATCATCACCAACAACACAATCTTCATGATCAACACCAAAAAGATTGCCACCCGCATCTCCAATGCAGCACTATCACACACATCAGCATGAGCGCCACCAACACTGCCAACACTCACATCTCCATTATGCCCAAGATGCACATATTCACCCACCACCAGTACTACCACTGCCGGAGTTTCCATAAATACCAACACCTTCACCATCATCACCAACCCAGTACCAACAACATTGCCATTCATACC... |
Task1_train_27033 | Given a variant located on Chromosome 19 and affecting HAMP (hepcidin antimicrobial peptide), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hemochromatosis type 2B | TCTCTACTAAAAATACAAAAGTTAGCCAGGCTTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCCGCAAGGTGGAGGTTGCACAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCCAAAAAAGAACAGAAATCAATGAAGCACCGAGTGACAGGGACTGGAAGGTCCTAATTCCATGGGTATTTACGGAACCCCTACGCCGTGTGGAGTCTTATTCTAGACAGTGGGGACGAGGCCATGAACAAGGTAGATGAGAGAGGAGATT... | TCTCTACTAAAAATACAAAAGTTAGCCAGGCTTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCCGCAAGGTGGAGGTTGCACAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCCAAAAAAGAACAGAAATCAATGAAGCACCGAGTGACAGGGACTGGAAGGTCCTAATTCCATGGGTATTTACGGAACCCCTACGCCGTGTGGAGTCTTATTCTAGACAGTGGGGACGAGGCCATGAACAAGGTAGATGAGAGAGGAGATT... |
Task1_train_27034 | The gene MAG (myelin associated glycoprotein), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary spastic paraplegia 75 | TCCCTGCCCGCCACCCCCAGGCCCCGGCCGTGGGACATCTGCTCCCTCACTCCACTCGCCACACCCCTCAGTCTCACCCCCGTACCCCGATGCGGTCGTTCCCCCTTCCCTCCCCACAGTTCTCTGACACCCCAGCTTGGAGGGAGTTGTTGCCAGAGAGTGGCTTCGAGGCTGTGTGGGAGGGTCCCAGGCACAATGGGAGGGCCACATGGGCAGCCTGACAACAGGTCACAACCCATGCAGGAGATACTGAAGCGGGGGTGGGTTGGGTGCCTCAATCCCGCCCCCTTGCACCTGAGTGACTCTTGTTGCATGCAGGT... | TCCCTGCCCGCCACCCCCAGGCCCCGGCCGTGGGACATCTGCTCCCTCACTCCACTCGCCACACCCCTCAGTCTCACCCCCGTACCCCGATGCGGTCGTTCCCCCTTCCCTCCCCACAGTTCTCTGACACCCCAGCTTGGAGGGAGTTGTTGCCAGAGAGTGGCTTCGAGGCTGTGTGGGAGGGTCCCAGGCACAATGGGAGGGCCACATGGGCAGCCTGACAACAGGTCACAACCCATGCAGGAGATACTGAAGCGGGGGTGGGTTGGGTGCCTCAATCCCGCCCCCTTGCACCTGAGTGACTCTTGTTGCATGCAGGT... |
Task1_train_27035 | This alteration in MAG (myelin associated glycoprotein) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary spastic paraplegia 75 | GCTTTAGGGGAGGAAGTGGGGGGCATCTGCAGCGCAGACTGAAAGGAAGGAGCACAGCCTGGAAGCCAGAAAGGAGGGGATAGTCTAAGCCTGTGTGAGCCCCAAGGGTCTGGGGAGGCCGGGGGCTGGGAGAGTTCCATGGTTCCTCCCTTCTACGTGTGGGGCCCAGAGTGGAGAAGGAGCAAGCCCCTGTCTTGATGGAAACAGGAGGCCCCTTATGTAAGTGTGTGATGCAGGGAGGGTGAGTGCTGGGGAGGAGAACTGAGTGAGGCAGGGAGTGAATGATACGTGGAGCGAGGTGCAGCTTCCCTGGGTGGTCA... | GCTTTAGGGGAGGAAGTGGGGGGCATCTGCAGCGCAGACTGAAAGGAAGGAGCACAGCCTGGAAGCCAGAAAGGAGGGGATAGTCTAAGCCTGTGTGAGCCCCAAGGGTCTGGGGAGGCCGGGGGCTGGGAGAGTTCCATGGTTCCTCCCTTCTACGTGTGGGGCCCAGAGTGGAGAAGGAGCAAGCCCCTGTCTTGATGGAAACAGGAGGCCCCTTATGTAAGTGTGTGATGCAGGGAGGGTGAGTGCTGGGGAGGAGAACTGAGTGAGGCAGGGAGTGAATGATACGTGGAGCGAGGTGCAGCTTCCCTGGGTGGTCA... |
Task1_train_27036 | Given this context: Chromosome 19, gene TMEM147, TMEM147-AS1 (transmembrane protein 147| TMEM147 antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Inborn genetic diseases | TGTCGTGGACCTGACCTGCCGCCTCGCCCAGCCTGCCCCCTACTCAGCCATCAAGGAGGCTGTAAAAGCAGCAGCCAAGGGGCCCATGGCTGGCATCCTTGCCTACACCGAGGATGAGGTAGGGGCTGAGGAGAGGAGACCCTGGGAGGAGCCCTCTGGGAAGGGACATGATTTCCACTTGCCAGGGAGCTGCTCTCAATGTGCCAAGTCAGAAACTGCAGGGCAGGAAGGGAGATCTCCCTGCCTCAGGGCCTTTGCACTTGCTGTTCCTTTAGTCTGGAATGCTTCCCTTGCCAGGTGACCATACAGTCTGTCCTTAC... | TGTCGTGGACCTGACCTGCCGCCTCGCCCAGCCTGCCCCCTACTCAGCCATCAAGGAGGCTGTAAAAGCAGCAGCCAAGGGGCCCATGGCTGGCATCCTTGCCTACACCGAGGATGAGGTAGGGGCTGAGGAGAGGAGACCCTGGGAGGAGCCCTCTGGGAAGGGACATGATTTCCACTTGCCAGGGAGCTGCTCTCAATGTGCCAAGTCAGAAACTGCAGGGCAGGAAGGGAGATCTCCCTGCCTCAGGGCCTTTGCACTTGCTGTTCCTTTAGTCTGGAATGCTTCCCTTGCCAGGTGACCATACAGTCTGTCCTTAC... |
Task1_train_27037 | This variant lies on Chromosome 19 and affects the gene TMEM147, TMEM147-AS1 (transmembrane protein 147| TMEM147 antisense RNA 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | TGTCGTGGACCTGACCTGCCGCCTCGCCCAGCCTGCCCCCTACTCAGCCATCAAGGAGGCTGTAAAAGCAGCAGCCAAGGGGCCCATGGCTGGCATCCTTGCCTACACCGAGGATGAGGTAGGGGCTGAGGAGAGGAGACCCTGGGAGGAGCCCTCTGGGAAGGGACATGATTTCCACTTGCCAGGGAGCTGCTCTCAATGTGCCAAGTCAGAAACTGCAGGGCAGGAAGGGAGATCTCCCTGCCTCAGGGCCTTTGCACTTGCTGTTCCTTTAGTCTGGAATGCTTCCCTTGCCAGGTGACCATACAGTCTGTCCTTAC... | TGTCGTGGACCTGACCTGCCGCCTCGCCCAGCCTGCCCCCTACTCAGCCATCAAGGAGGCTGTAAAAGCAGCAGCCAAGGGGCCCATGGCTGGCATCCTTGCCTACACCGAGGATGAGGTAGGGGCTGAGGAGAGGAGACCCTGGGAGGAGCCCTCTGGGAAGGGACATGATTTCCACTTGCCAGGGAGCTGCTCTCAATGTGCCAAGTCAGAAACTGCAGGGCAGGAAGGGAGATCTCCCTGCCTCAGGGCCTTTGCACTTGCTGTTCCTTTAGTCTGGAATGCTTCCCTTGCCAGGTGACCATACAGTCTGTCCTTAC... |
Task1_train_27038 | The gene TMEM147 (transmembrane protein 147) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | CTTCGATGCTAAGGCCGGCATTGCGCTCAATGACAATTTCGTGAAGCTCATTTCATGGTAAGGGGGAAGGAGCTGGAGACTTAGAGGGAGGGGAACTAAGGGGTGGTCGGAAGGAACCCCCTTGAACCTCCCGACCCCTCCTCCACAGGTACGACAACGAATATGGCTACAGTCACCGGGTGGTCGACCTCCTCCGCTACATGTTCAGCCGAGACAAGTGAAACGGGAAGGTCCTTTCTTTCCTTCCCAGGGGCCGGGGCCGGAACATGTGCCTCCCGTTCCAGCATCTGGCTGCCCGGGGGAGGAAGGACACCCGGGGC... | CTTCGATGCTAAGGCCGGCATTGCGCTCAATGACAATTTCGTGAAGCTCATTTCATGGTAAGGGGGAAGGAGCTGGAGACTTAGAGGGAGGGGAACTAAGGGGTGGTCGGAAGGAACCCCCTTGAACCTCCCGACCCCTCCTCCACAGGTACGACAACGAATATGGCTACAGTCACCGGGTGGTCGACCTCCTCCGCTACATGTTCAGCCGAGACAAGTGAAACGGGAAGGTCCTTTCTTTCCTTCCCAGGGGCCGGGGCCGGAACATGTGCCTCCCGTTCCAGCATCTGGCTGCCCGGGGGAGGAAGGACACCCGGGGC... |
Task1_train_27039 | A mutation in TMEM147 (transmembrane protein 147), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | CCTCCTCCGCTACATGTTCAGCCGAGACAAGTGAAACGGGAAGGTCCTTTCTTTCCTTCCCAGGGGCCGGGGCCGGAACATGTGCCTCCCGTTCCAGCATCTGGCTGCCCGGGGGAGGAAGGACACCCGGGGCGGGCGCCCCACGCCGATGGGTCCATGGTGAAATAAAAAACAGTGCTCACGGCTGCGTCCCGTATCTCTGCGCCGGTCAGGGCGGGTTCTGATCCGGGTTTGAGGCCCGCCCCACCCTTACTCGATCGCCTGCGCCCACGGGCGAGGGGTCGCGCTCGACTCCAAGCCGGGTTCCACTTCAGGAGACC... | CCTCCTCCGCTACATGTTCAGCCGAGACAAGTGAAACGGGAAGGTCCTTTCTTTCCTTCCCAGGGGCCGGGGCCGGAACATGTGCCTCCCGTTCCAGCATCTGGCTGCCCGGGGGAGGAAGGACACCCGGGGCGGGCGCCCCACGCCGATGGGTCCATGGTGAAATAAAAAACAGTGCTCACGGCTGCGTCCCGTATCTCTGCGCCGGTCAGGGCGGGTTCTGATCCGGGTTTGAGGCCCGCCCCACCCTTACTCGATCGCCTGCGCCCACGGGCGAGGGGTCGCGCTCGACTCCAAGCCGGGTTCCACTTCAGGAGACC... |
Task1_train_27040 | This sequence variant lies in COX6B1 (cytochrome c oxidase subunit 6B1) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 7 | GCAACCTCGGTAGTACTAGCAGCAGCGGTGATTTTGTTAGCAATGAAAATCATAGACATTCCTTTTTTTTGTTTTTCTCCTTTTTTGAGACAGGGTCACTGTGTCACCCAGGCTGGCGTGCAGTGGAGAAATCTTGGCTCACTGCAACCTCTGCTTCCCTGTGCAAGCGATCCTGCCTCAGTAGCTGGGACCACAGGCACGCGCCACCACACCTGGCTAATTTTAATTTTTTTTTTTTTTTTTGAGACAAGATCTTGCTGTATCGCCCAGGCTGGAGTACAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCTTGG... | GCAACCTCGGTAGTACTAGCAGCAGCGGTGATTTTGTTAGCAATGAAAATCATAGACATTCCTTTTTTTTGTTTTTCTCCTTTTTTGAGACAGGGTCACTGTGTCACCCAGGCTGGCGTGCAGTGGAGAAATCTTGGCTCACTGCAACCTCTGCTTCCCTGTGCAAGCGATCCTGCCTCAGTAGCTGGGACCACAGGCACGCGCCACCACACCTGGCTAATTTTAATTTTTTTTTTTTTTTTTGAGACAAGATCTTGCTGTATCGCCCAGGCTGGAGTACAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCTTGG... |
Task1_train_27041 | This variant impacts the gene KMT2B (lysine methyltransferase 2B) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TGGCTGGGGGAGTGGCTGCGGCCAGGTAAGCTGGTGGTCGAGCAGCCTGAGGCTGGGATTTTGTGGTGGCCCAATCCTGTCCAGATGTTTGGATTTTCTCATGACACACAGCTCAGTTGCTGAGCTGGGAAGCAGAGTGACGTGGATTGAGAGTGCTTAACTCAGAGGCTGCTTATGTCTCAGAGATGACATGAGAATATGGCAGTGGCCTTAGGAGGTCCCTGTCCTCAGGGATCAGACCACATTTTGGTGCGGGACACAGACATGTTAGCAAGGGCAGGTTAGAGTGGGCACTGAGAAACCGAGCAGTGAGAGCACCT... | TGGCTGGGGGAGTGGCTGCGGCCAGGTAAGCTGGTGGTCGAGCAGCCTGAGGCTGGGATTTTGTGGTGGCCCAATCCTGTCCAGATGTTTGGATTTTCTCATGACACACAGCTCAGTTGCTGAGCTGGGAAGCAGAGTGACGTGGATTGAGAGTGCTTAACTCAGAGGCTGCTTATGTCTCAGAGATGACATGAGAATATGGCAGTGGCCTTAGGAGGTCCCTGTCCTCAGGGATCAGACCACATTTTGGTGCGGGACACAGACATGTTAGCAAGGGCAGGTTAGAGTGGGCACTGAGAAACCGAGCAGTGAGAGCACCT... |
Task1_train_27042 | Assess the clinical impact of this variant on gene PSENEN (presenilin enhancer, gamma-secretase subunit), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Acne inversa, familial, 2 | TATGGTCTGCACAGAATTTAAAAGGGGCGGGGCCTGAGCTCAGAGGGCAGGGCTGCATGAACAGAGAGTGAGGCATGAAGGTTGGGGGTGGAACCTTACACCCCAGCCTAAGCATCATGAGTGCATCGGCGATCCTTTGCCCCTAAGAAACCAGAAAAGGGATGGAGGGGACTGGCAAGGATGAACAGCGGGATGGAAGGGACTGGCAAAGATGAACAGCCGCCGTGTGTAGCCTGTACGCATGGGGGCGCGACCAAGTTCCCGGGAAAACGGCACGAAGACCGGTGGGAGGAGCCTGCAGAAAGGTCCAATGAGAAAAA... | TATGGTCTGCACAGAATTTAAAAGGGGCGGGGCCTGAGCTCAGAGGGCAGGGCTGCATGAACAGAGAGTGAGGCATGAAGGTTGGGGGTGGAACCTTACACCCCAGCCTAAGCATCATGAGTGCATCGGCGATCCTTTGCCCCTAAGAAACCAGAAAAGGGATGGAGGGGACTGGCAAGGATGAACAGCGGGATGGAAGGGACTGGCAAAGATGAACAGCCGCCGTGTGTAGCCTGTACGCATGGGGGCGCGACCAAGTTCCCGGGAAAACGGCACGAAGACCGGTGGGAGGAGCCTGCAGAAAGGTCCAATGAGAAAAA... |
Task1_train_27043 | A mutation in NPHS1 (NPHS1 adhesion molecule, nephrin), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Finnish congenital nephrotic syndrome | CGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA... | CGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA... |
Task1_train_27044 | A variant affecting Chromosome 19, within the gene NPHS1 (NPHS1 adhesion molecule, nephrin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Finnish congenital nephrotic syndrome | CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCG... | CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCG... |
Task1_train_27045 | Given a variant located on Chromosome 19 and affecting NPHS1 (NPHS1 adhesion molecule, nephrin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Finnish congenital nephrotic syndrome | GGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACAT... | GGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACAT... |
Task1_train_27046 | Consider a variant on Chromosome 19 in gene NPHS1 (NPHS1 adhesion molecule, nephrin). Determine its clinical classification and disease relevance. | Pathogenic; Finnish congenital nephrotic syndrome | CATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAG... | CATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAG... |
Task1_train_27047 | The gene NPHS1 (NPHS1 adhesion molecule, nephrin) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Finnish congenital nephrotic syndrome | CACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGG... | CACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGG... |
Task1_train_27048 | This sequence change occurs on Chromosome 19, altering NPHS1 (NPHS1 adhesion molecule, nephrin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | AAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATG... | AAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATG... |
Task1_train_27049 | A variant was discovered in gene NPHS1 (NPHS1 adhesion molecule, nephrin), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Finnish congenital nephrotic syndrome | TCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGT... | TCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGT... |
Task1_train_27050 | This variant impacts the gene NPHS1 (NPHS1 adhesion molecule, nephrin) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Finnish congenital nephrotic syndrome | CGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTC... | CGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTC... |
Task1_train_27051 | A sequence alteration has been identified in NPHS1 (NPHS1 adhesion molecule, nephrin) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; not provided | TGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCA... | TGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCA... |
Task1_train_27052 | An alteration has been detected in KIRREL2, NPHS1 (kirre like nephrin family adhesion molecule 2| NPHS1 adhesion molecule, nephrin) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | GGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGG... | GGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGG... |
Task1_train_27053 | The gene TYROBP (transmembrane immune signaling adaptor TYROBP), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | CCCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGAAGCTGGAATTACAGGCGCATGACACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCCTGGCCTGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGTGCCACCATGCCTGGCCAAAAAAAAATTTTTTTTAATTATAAAGAACATTTACACTGCTCTCAGATTATATGCACAATTTTGTATTTTTTGTGTAGATTTTTCTGGGAGTCTAGATTTTCTTAGTTT... | CCCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGAAGCTGGAATTACAGGCGCATGACACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCCTGGCCTGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGTGCCACCATGCCTGGCCAAAAAAAAATTTTTTTTAATTATAAAGAACATTTACACTGCTCTCAGATTATATGCACAATTTTGTATTTTTTGTGTAGATTTTTCTGGGAGTCTAGATTTTCTTAGTTT... |
Task1_train_27054 | Here is a variant affecting LOC130064280, SDHAF1 (ATAC-STARR-seq lymphoblastoid silent region 10545| succinate dehydrogenase complex assembly factor 1) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Mitochondrial complex 2 deficiency, nuclear type 2 | GGGCCACATAGCAAGACCCTGTCTCTAAAAACAAAACAAAAAATAAATATTTAAAATTCCAGAGTGAAGCCTGGGCAACACAGCGAGACTCTGTCTCTACAAAAAACAATAAAAGAAGAATTAGCCGGGTGTGGTGGGATGTTCACGTAATCCTAACCACTGGACATGTTGAGGCGAGAGGATTGCTTGATCCCAGGAGATCAAGGCTGTAGTTTCACCAATATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCCAGTGTGCTGGCACATACCTGTAATTCCAGCTACTGGGGAGGCTGAGGTAGGGAGAA... | GGGCCACATAGCAAGACCCTGTCTCTAAAAACAAAACAAAAAATAAATATTTAAAATTCCAGAGTGAAGCCTGGGCAACACAGCGAGACTCTGTCTCTACAAAAAACAATAAAAGAAGAATTAGCCGGGTGTGGTGGGATGTTCACGTAATCCTAACCACTGGACATGTTGAGGCGAGAGGATTGCTTGATCCCAGGAGATCAAGGCTGTAGTTTCACCAATATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCCAGTGTGCTGGCACATACCTGTAATTCCAGCTACTGGGGAGGCTGAGGTAGGGAGAA... |
Task1_train_27055 | This alteration in LOC130064280, SDHAF1 (ATAC-STARR-seq lymphoblastoid silent region 10545| succinate dehydrogenase complex assembly factor 1) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Mitochondrial complex 2 deficiency, nuclear type 2 | ACATAGCAAGACCCTGTCTCTAAAAACAAAACAAAAAATAAATATTTAAAATTCCAGAGTGAAGCCTGGGCAACACAGCGAGACTCTGTCTCTACAAAAAACAATAAAAGAAGAATTAGCCGGGTGTGGTGGGATGTTCACGTAATCCTAACCACTGGACATGTTGAGGCGAGAGGATTGCTTGATCCCAGGAGATCAAGGCTGTAGTTTCACCAATATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCCAGTGTGCTGGCACATACCTGTAATTCCAGCTACTGGGGAGGCTGAGGTAGGGAGAATCACT... | ACATAGCAAGACCCTGTCTCTAAAAACAAAACAAAAAATAAATATTTAAAATTCCAGAGTGAAGCCTGGGCAACACAGCGAGACTCTGTCTCTACAAAAAACAATAAAAGAAGAATTAGCCGGGTGTGGTGGGATGTTCACGTAATCCTAACCACTGGACATGTTGAGGCGAGAGGATTGCTTGATCCCAGGAGATCAAGGCTGTAGTTTCACCAATATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCCAGTGTGCTGGCACATACCTGTAATTCCAGCTACTGGGGAGGCTGAGGTAGGGAGAATCACT... |
Task1_train_27056 | The gene LOC130064280, SDHAF1 (ATAC-STARR-seq lymphoblastoid silent region 10545| succinate dehydrogenase complex assembly factor 1) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mitochondrial complex 2 deficiency, nuclear type 2 | CATAGCAAGACCCTGTCTCTAAAAACAAAACAAAAAATAAATATTTAAAATTCCAGAGTGAAGCCTGGGCAACACAGCGAGACTCTGTCTCTACAAAAAACAATAAAAGAAGAATTAGCCGGGTGTGGTGGGATGTTCACGTAATCCTAACCACTGGACATGTTGAGGCGAGAGGATTGCTTGATCCCAGGAGATCAAGGCTGTAGTTTCACCAATATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCCAGTGTGCTGGCACATACCTGTAATTCCAGCTACTGGGGAGGCTGAGGTAGGGAGAATCACTT... | CATAGCAAGACCCTGTCTCTAAAAACAAAACAAAAAATAAATATTTAAAATTCCAGAGTGAAGCCTGGGCAACACAGCGAGACTCTGTCTCTACAAAAAACAATAAAAGAAGAATTAGCCGGGTGTGGTGGGATGTTCACGTAATCCTAACCACTGGACATGTTGAGGCGAGAGGATTGCTTGATCCCAGGAGATCAAGGCTGTAGTTTCACCAATATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCCAGTGTGCTGGCACATACCTGTAATTCCAGCTACTGGGGAGGCTGAGGTAGGGAGAATCACTT... |
Task1_train_27057 | With a mutation on Chromosome 19 in gene WDR62 (WD repeat domain 62), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | GGCAGCCTGAGCTTAAACTTTAGTCCTGTTCTTCCTGGCAGGTTATGAACTTCGCTTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGGGTCTTACTCTGTCATCCAGGCTGTAGTGCACTGGGTTGATCTCGGCTCACTGCAGTCTCAGCCTCCCTGGGCTCAGGTGATCTTCCTGCCTCAAGCCTCCTGAGTAGCTGGGACTGCAGGCGCATGCCACCATACCTGACTAATTTTTTTGTGTTTTCTGGTAGAGACAGGGTCTCGCCGTGTTGGCCAGGCTGGTCTTGAATTACTGAGCTCAAGCGATCTGCCTGCCTC... | GGCAGCCTGAGCTTAAACTTTAGTCCTGTTCTTCCTGGCAGGTTATGAACTTCGCTTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGGGTCTTACTCTGTCATCCAGGCTGTAGTGCACTGGGTTGATCTCGGCTCACTGCAGTCTCAGCCTCCCTGGGCTCAGGTGATCTTCCTGCCTCAAGCCTCCTGAGTAGCTGGGACTGCAGGCGCATGCCACCATACCTGACTAATTTTTTTGTGTTTTCTGGTAGAGACAGGGTCTCGCCGTGTTGGCCAGGCTGGTCTTGAATTACTGAGCTCAAGCGATCTGCCTGCCTC... |
Task1_train_27058 | Consider a variant on Chromosome 19 in gene WDR62 (WD repeat domain 62). Determine its clinical classification and disease relevance. | Pathogenic; Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | GAAGGGAGTAGAAGGAAACCATACAATCTGGGAACAGTGAATCTTGCTGCCAGAAACCTACGAGCTAGCCTGTTCATTCAGTGCTTGTGCAGGCTAGCTAGGAGTATCAGAAACATTTTGGCTCTTTATGGATTTTCCAGAACACCTTGAGTATTTAGCAGTGGAGCACAGGCTGCAGGCTACCTTGATGTGATGCCTGCCAGGATCCTCCCATCAGCACCACCCGTTTAGTTAGGCCAGGCCTGTACCATTTCCTGCATCTCTATTTCTCAGTGTTACAGGGTGGATAGGGTCTTAGGATACCCACTGCGGCAGAGGGA... | GAAGGGAGTAGAAGGAAACCATACAATCTGGGAACAGTGAATCTTGCTGCCAGAAACCTACGAGCTAGCCTGTTCATTCAGTGCTTGTGCAGGCTAGCTAGGAGTATCAGAAACATTTTGGCTCTTTATGGATTTTCCAGAACACCTTGAGTATTTAGCAGTGGAGCACAGGCTGCAGGCTACCTTGATGTGATGCCTGCCAGGATCCTCCCATCAGCACCACCCGTTTAGTTAGGCCAGGCCTGTACCATTTCCTGCATCTCTATTTCTCAGTGTTACAGGGTGGATAGGGTCTTAGGATACCCACTGCGGCAGAGGGA... |
Task1_train_27059 | A variant has been detected on Chromosome 19 in WDR62 (WD repeat domain 62). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CTGTGGGAGCTGCTTGAGCTCACCTCTGCTGGCCTCTTCCGAGGCTTGGGAGGCAGAAGAGGGCAGAGTCCTATCAGAGTCGCCAGGATGGGGTCTGGCTGGCCACCCTCAGCGGAACCAGTGATCAGCTCTTTTCTTTATCCCCAGGAAGTCTCTCAGTGCTCTGGCCTTCTCCCCTGATGGGAAGTACATAGTGACAGGGGAGGTGAGTCGTGATCGTGACTGAGTGGGAGTCGGGGGCTGGGGGGTCTTGGAAGCCATTCCTTCTGCTCCCGGCAGGCCTGGGAGTCCCTGGAATAGCTCCTTCCTGGGCCAGAACA... | CTGTGGGAGCTGCTTGAGCTCACCTCTGCTGGCCTCTTCCGAGGCTTGGGAGGCAGAAGAGGGCAGAGTCCTATCAGAGTCGCCAGGATGGGGTCTGGCTGGCCACCCTCAGCGGAACCAGTGATCAGCTCTTTTCTTTATCCCCAGGAAGTCTCTCAGTGCTCTGGCCTTCTCCCCTGATGGGAAGTACATAGTGACAGGGGAGGTGAGTCGTGATCGTGACTGAGTGGGAGTCGGGGGCTGGGGGGTCTTGGAAGCCATTCCTTCTGCTCCCGGCAGGCCTGGGAGTCCCTGGAATAGCTCCTTCCTGGGCCAGAACA... |
Task1_train_27060 | Gene WDR62 (WD repeat domain 62) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | CTTTACTTTATTTCTTCTGTCCCTGTTGTGATTGGTCAATTTCATTTCTACTCTTAGCAGTTTCTCTTCAGTGTGGAGCTTTGTCCTGGAAGGACAAAGTTCACAGGATCTTCTCCAGTCCCTTTAGGCCTTACCCCTTGCACTCAACTGCTGTTGGGGTGGATGAAACCCTCCTACTTTCAGCTGCTGTTCAGTTTGGCCCAGTGTGCTTTCCAATGAACACCTCTTGGCTACTTTGGAATTATCCTGTTGCTGGGTCTGTCAGATGCCTTATTACTTCTCTGTCTCCCACATGCATGCTGATGATATGTAGGTCTTGT... | CTTTACTTTATTTCTTCTGTCCCTGTTGTGATTGGTCAATTTCATTTCTACTCTTAGCAGTTTCTCTTCAGTGTGGAGCTTTGTCCTGGAAGGACAAAGTTCACAGGATCTTCTCCAGTCCCTTTAGGCCTTACCCCTTGCACTCAACTGCTGTTGGGGTGGATGAAACCCTCCTACTTTCAGCTGCTGTTCAGTTTGGCCCAGTGTGCTTTCCAATGAACACCTCTTGGCTACTTTGGAATTATCCTGTTGCTGGGTCTGTCAGATGCCTTATTACTTCTCTGTCTCCCACATGCATGCTGATGATATGTAGGTCTTGT... |
Task1_train_27061 | A mutation in WDR62 (WD repeat domain 62), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Primary microcephaly type 2 | TAGTCATGTTTGATTGAGTTCCACATTTCCCTTGGAAGTTTATTTGAGGGTATGTGTTAAGGCCTAGGCTGAAGGTGGGACATGGATGATATATGGTAGCATTTTGTGTCCTTTTTTTTTCTTGTTTATTTTTAGCATAGAAGGTATTGCACGATACCTGTTTATCTTTAACTTACTTTTTTTTTTTCCATGAAAATGCAACAGTAAGTCATAGTGCTGTCATTGAGTCATCCTTTGCCTTGTCCTCTGGGAACTGTAGGTGTATCCTGAGTTTGAAGACCAGAGAGCTTGTTTGCCATCAGGATCCTTTCTGACTTGTT... | TAGTCATGTTTGATTGAGTTCCACATTTCCCTTGGAAGTTTATTTGAGGGTATGTGTTAAGGCCTAGGCTGAAGGTGGGACATGGATGATATATGGTAGCATTTTGTGTCCTTTTTTTTTCTTGTTTATTTTTAGCATAGAAGGTATTGCACGATACCTGTTTATCTTTAACTTACTTTTTTTTTTTCCATGAAAATGCAACAGTAAGTCATAGTGCTGTCATTGAGTCATCCTTTGCCTTGTCCTCTGGGAACTGTAGGTGTATCCTGAGTTTGAAGACCAGAGAGCTTGTTTGCCATCAGGATCCTTTCTGACTTGTT... |
Task1_train_27062 | Here is a mutation in WDR62 (WD repeat domain 62) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Abnormality of neuronal migration | GAGCAGTGTTTAACAGCTTTGACCTTGGCACCAGAGAATGCCTGGGTTCAGTCCTGCCCCTGTCCTCTCTGTGTGCCTTGGGACAAGGACTCTGTGAACCTCTGTGTTCATGCTTGTCCAGTGGGATGGGTGGTGAGCATTCAGGAAGACCCGCTACATGCATGGGGCCTGGCCCAAGGCTCATGTGGATCTTGCAGTTGATCCTGATGGCACGAGCCTCCCAGCCTGTCTCCACTGGTCGCTGCTGCAGTCCTGCCTCTACTCCGCTACTCAAGTCACCTATCTCAATCCCAGACTGGAGAGGGTGTCCCTTCTTTGTC... | GAGCAGTGTTTAACAGCTTTGACCTTGGCACCAGAGAATGCCTGGGTTCAGTCCTGCCCCTGTCCTCTCTGTGTGCCTTGGGACAAGGACTCTGTGAACCTCTGTGTTCATGCTTGTCCAGTGGGATGGGTGGTGAGCATTCAGGAAGACCCGCTACATGCATGGGGCCTGGCCCAAGGCTCATGTGGATCTTGCAGTTGATCCTGATGGCACGAGCCTCCCAGCCTGTCTCCACTGGTCGCTGCTGCAGTCCTGCCTCTACTCCGCTACTCAAGTCACCTATCTCAATCCCAGACTGGAGAGGGTGTCCCTTCTTTGTC... |
Task1_train_27063 | The gene WDR62 (WD repeat domain 62), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | AGGAAAATACGTCAGCCAGGTGCAGTGATACGTGTCTGTGGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGTAGGGAACTGAGAAGGCACCACTACTACACTCCAGCGTGGGCAACAGAGTGAGATCCTGTCTCAAAAAAGAGAAAAAGAACAGGGGCCCAGCACGGTGGTTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGAGCAATATAGTGAGACCCCATCTCTACAAAAAATAAAAAAATTA... | AGGAAAATACGTCAGCCAGGTGCAGTGATACGTGTCTGTGGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGTAGGGAACTGAGAAGGCACCACTACTACACTCCAGCGTGGGCAACAGAGTGAGATCCTGTCTCAAAAAAGAGAAAAAGAACAGGGGCCCAGCACGGTGGTTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGAGCAATATAGTGAGACCCCATCTCTACAAAAAATAAAAAAATTA... |
Task1_train_27064 | The variant affects gene SPINT2 (serine peptidase inhibitor, Kunitz type 2), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Congenital secretory sodium diarrhea 3 | TCCAAGCCTTGACGGCTCAGCACATACTTCTCTGTTTTCATGCTCAAGCCTAGGTTTAGTAGGCCTGAGTGGCAGTGGGAGATTCAAGTGCTGGGGGAGACCTTTGGCCTCACATTCAGATTCCACCTTGAGTCCCATGATCTCATTGCAAGGTTAGACTTCCATTGTTTAAGGTAAATACCATTTTGATAACTCAGTTACGGCTTTTCATGTATTATTATGCTAGGAGGGAGGCTGAAGAGTGGGAGTGGCCCTGGCTCCTGAACACACTATTCTCTTTCCTGCCTGAAGGCCTCCGCATGTGCCATTCCTGATTCTTG... | TCCAAGCCTTGACGGCTCAGCACATACTTCTCTGTTTTCATGCTCAAGCCTAGGTTTAGTAGGCCTGAGTGGCAGTGGGAGATTCAAGTGCTGGGGGAGACCTTTGGCCTCACATTCAGATTCCACCTTGAGTCCCATGATCTCATTGCAAGGTTAGACTTCCATTGTTTAAGGTAAATACCATTTTGATAACTCAGTTACGGCTTTTCATGTATTATTATGCTAGGAGGGAGGCTGAAGAGTGGGAGTGGCCCTGGCTCCTGAACACACTATTCTCTTTCCTGCCTGAAGGCCTCCGCATGTGCCATTCCTGATTCTTG... |
Task1_train_27065 | This sequence variant lies in SPINT2 (serine peptidase inhibitor, Kunitz type 2) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | CAAGCCTTGACGGCTCAGCACATACTTCTCTGTTTTCATGCTCAAGCCTAGGTTTAGTAGGCCTGAGTGGCAGTGGGAGATTCAAGTGCTGGGGGAGACCTTTGGCCTCACATTCAGATTCCACCTTGAGTCCCATGATCTCATTGCAAGGTTAGACTTCCATTGTTTAAGGTAAATACCATTTTGATAACTCAGTTACGGCTTTTCATGTATTATTATGCTAGGAGGGAGGCTGAAGAGTGGGAGTGGCCCTGGCTCCTGAACACACTATTCTCTTTCCTGCCTGAAGGCCTCCGCATGTGCCATTCCTGATTCTTGGA... | CAAGCCTTGACGGCTCAGCACATACTTCTCTGTTTTCATGCTCAAGCCTAGGTTTAGTAGGCCTGAGTGGCAGTGGGAGATTCAAGTGCTGGGGGAGACCTTTGGCCTCACATTCAGATTCCACCTTGAGTCCCATGATCTCATTGCAAGGTTAGACTTCCATTGTTTAAGGTAAATACCATTTTGATAACTCAGTTACGGCTTTTCATGTATTATTATGCTAGGAGGGAGGCTGAAGAGTGGGAGTGGCCCTGGCTCCTGAACACACTATTCTCTTTCCTGCCTGAAGGCCTCCGCATGTGCCATTCCTGATTCTTGGA... |
Task1_train_27066 | This variant affects the gene SPINT2 (serine peptidase inhibitor, Kunitz type 2) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Congenital secretory sodium diarrhea 3 | TGGCCCCCATCTCCTCCTGGAGGATGGGATGGAGGTGGCTGCTGCCCATGAGGCTCAGGCCCCTCCTTGCTGTGCGGGCCTCCAGCTGCTCTGCTGACCCCACTCCCCACCCACCCTCCTGTCTGCCTGTTCTGTCTCCTCTGCTTCCTTTGCTCCCTGTTGCCATCGCTGTCCCCTGCCCCGTGGGCATCCTCTGTCCTCTGCCACCCCCGCCTCCCCGCCACTGCAGCTTGTGATCTCAAGATGTGTGTTAGCTTGCTTTGTAGTGCTGGCGGCTGCTGCCCCATTCCTCCTTTATGGTTTAAGGACTCTGCATCGGG... | TGGCCCCCATCTCCTCCTGGAGGATGGGATGGAGGTGGCTGCTGCCCATGAGGCTCAGGCCCCTCCTTGCTGTGCGGGCCTCCAGCTGCTCTGCTGACCCCACTCCCCACCCACCCTCCTGTCTGCCTGTTCTGTCTCCTCTGCTTCCTTTGCTCCCTGTTGCCATCGCTGTCCCCTGCCCCGTGGGCATCCTCTGTCCTCTGCCACCCCCGCCTCCCCGCCACTGCAGCTTGTGATCTCAAGATGTGTGTTAGCTTGCTTTGTAGTGCTGGCGGCTGCTGCCCCATTCCTCCTTTATGGTTTAAGGACTCTGCATCGGG... |
Task1_train_27067 | A mutation in SPINT2 (serine peptidase inhibitor, Kunitz type 2), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Congenital secretory sodium diarrhea 3 | TCCTGGAGGATGGGATGGAGGTGGCTGCTGCCCATGAGGCTCAGGCCCCTCCTTGCTGTGCGGGCCTCCAGCTGCTCTGCTGACCCCACTCCCCACCCACCCTCCTGTCTGCCTGTTCTGTCTCCTCTGCTTCCTTTGCTCCCTGTTGCCATCGCTGTCCCCTGCCCCGTGGGCATCCTCTGTCCTCTGCCACCCCCGCCTCCCCGCCACTGCAGCTTGTGATCTCAAGATGTGTGTTAGCTTGCTTTGTAGTGCTGGCGGCTGCTGCCCCATTCCTCCTTTATGGTTTAAGGACTCTGCATCGGGCGCCTGGGGTGAGT... | TCCTGGAGGATGGGATGGAGGTGGCTGCTGCCCATGAGGCTCAGGCCCCTCCTTGCTGTGCGGGCCTCCAGCTGCTCTGCTGACCCCACTCCCCACCCACCCTCCTGTCTGCCTGTTCTGTCTCCTCTGCTTCCTTTGCTCCCTGTTGCCATCGCTGTCCCCTGCCCCGTGGGCATCCTCTGTCCTCTGCCACCCCCGCCTCCCCGCCACTGCAGCTTGTGATCTCAAGATGTGTGTTAGCTTGCTTTGTAGTGCTGGCGGCTGCTGCCCCATTCCTCCTTTATGGTTTAAGGACTCTGCATCGGGCGCCTGGGGTGAGT... |
Task1_train_27068 | Gene YIF1B (Yip1 interacting factor homolog B, membrane trafficking protein) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Kaya-Barakat-Masson syndrome | CTCTAGCAGCCTGGCTGGTGTCTCCTCTTCCAGGGCTCAGGATACCCCCTCTTCCAGGAAGCCCTCCTGACCCCCCAGGCCGGGCAGCCACTCCAGGGCTCCTCAGTTCAGCAATGTGTCTCTGGTCTGAACCCCACACCTGACATCCTCTGCTTGGATGCCTGGATGCCTCCGGGGCACCTGTGCCTCAGCCTCACCAGCCCCGAGCCCAGCTCACCATGAACACAAAGATGGCTACGCAGCACCAGCCCAGCACCAGGTAGTAGCCAATCTTCCCGAAGAGCAGGCCCATGAGGACCCCGCCAATCATCCTGGGGGAG... | CTCTAGCAGCCTGGCTGGTGTCTCCTCTTCCAGGGCTCAGGATACCCCCTCTTCCAGGAAGCCCTCCTGACCCCCCAGGCCGGGCAGCCACTCCAGGGCTCCTCAGTTCAGCAATGTGTCTCTGGTCTGAACCCCACACCTGACATCCTCTGCTTGGATGCCTGGATGCCTCCGGGGCACCTGTGCCTCAGCCTCACCAGCCCCGAGCCCAGCTCACCATGAACACAAAGATGGCTACGCAGCACCAGCCCAGCACCAGGTAGTAGCCAATCTTCCCGAAGAGCAGGCCCATGAGGACCCCGCCAATCATCCTGGGGGAG... |
Task1_train_27069 | This variant affects gene RYR1 (ryanodine receptor 1) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | GGGCAGGGCCTTCCTGTGGGGTGGGGGTGGGGTCTGGCGTCTCAAGAGTGTGGGCATCCAGACTAGGGGAGGGAGTGTGGCAGGGAATGTTGCTGGGGTGGGGGGGTCTTCTGACCCCTCACTTACATCCCCCTCCCACCCCAGAATGTGCCCCCCGATCTGGCCATCTGTTGCTTCGTCCTGGAGCAGTCCCTGTCTGTGCGAGCCCTGCAGGAGATGCTGGCTAACACGGTGGAGGCTGGCGTGGAGGTGAGGACCCCACCTGGGGGTGGGCGGGGTGGCAGAGATGGGCGAGAGGACCCAGGGGTCGTTTAGGGCAC... | GGGCAGGGCCTTCCTGTGGGGTGGGGGTGGGGTCTGGCGTCTCAAGAGTGTGGGCATCCAGACTAGGGGAGGGAGTGTGGCAGGGAATGTTGCTGGGGTGGGGGGGTCTTCTGACCCCTCACTTACATCCCCCTCCCACCCCAGAATGTGCCCCCCGATCTGGCCATCTGTTGCTTCGTCCTGGAGCAGTCCCTGTCTGTGCGAGCCCTGCAGGAGATGCTGGCTAACACGGTGGAGGCTGGCGTGGAGGTGAGGACCCCACCTGGGGGTGGGCGGGGTGGCAGAGATGGGCGAGAGGACCCAGGGGTCGTTTAGGGCAC... |
Task1_train_27070 | This variant affects gene RYR1 (ryanodine receptor 1) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | TTGATCATTTCCTGATCTGTGATCTCTGATGACTCTGTCTCCCATCTGCCGGTTTCCGGGTATCCACCCTTGATTTCTGGCCTCTGACGCTGGGACTCTCGCCCACCCCTGCAATCGTCTCTGACTGCCGCATCCTGGTGGCCCCCAGCACCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAA... | TTGATCATTTCCTGATCTGTGATCTCTGATGACTCTGTCTCCCATCTGCCGGTTTCCGGGTATCCACCCTTGATTTCTGGCCTCTGACGCTGGGACTCTCGCCCACCCCTGCAATCGTCTCTGACTGCCGCATCCTGGTGGCCCCCAGCACCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAA... |
Task1_train_27071 | This mutation occurs in RYR1 (ryanodine receptor 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | TCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAATGGAGCCTTGGAACCTCAGACCTCAAACCTAGATCTCCAAATTATGGCTCTCACACTTAGATCTCCAGCTGACCCCAAATCCAGACCCCCAGAGCTCAGAACCCCCCCAAACCCCGAACTAAATATCAGGCTCCCAAACTTAGACCCCAAAGTATTAGCCCCCAAGGCTCCTAAACTCAGATTCAAATCTTAAAACATCAAGTTTAAAGCTTGTTTAAAGGCCGGG... | TCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAATGGAGCCTTGGAACCTCAGACCTCAAACCTAGATCTCCAAATTATGGCTCTCACACTTAGATCTCCAGCTGACCCCAAATCCAGACCCCCAGAGCTCAGAACCCCCCCAAACCCCGAACTAAATATCAGGCTCCCAAACTTAGACCCCAAAGTATTAGCCCCCAAGGCTCCTAAACTCAGATTCAAATCTTAAAACATCAAGTTTAAAGCTTGTTTAAAGGCCGGG... |
Task1_train_27072 | Here is a mutation in RYR1 (ryanodine receptor 1) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; RYR1-related disorder | CCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTC... | CCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTC... |
Task1_train_27073 | The gene RYR1 (ryanodine receptor 1) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | CCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTC... | CCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTC... |
Task1_train_27074 | Gene RYR1 (ryanodine receptor 1) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | CCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCA... | CCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCA... |
Task1_train_27075 | This variant impacts the gene RYR1 (ryanodine receptor 1) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | CCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCA... | CCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCA... |
Task1_train_27076 | This variant lies on Chromosome 19 and affects the gene RYR1 (ryanodine receptor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | GGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAG... | GGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAG... |
Task1_train_27077 | A mutation on Chromosome 19 affecting RYR1 (ryanodine receptor 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; RYR1-related disorder | TGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAAT... | TGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAAT... |
Task1_train_27078 | A variant was discovered in gene RYR1 (ryanodine receptor 1), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | ATGGAGCCTCCATGTTGGACATGCGTAGCCCCAGGTATACCTTTTCTATCGGCACATTCCCCCATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAAT... | ATGGAGCCTCCATGTTGGACATGCGTAGCCCCAGGTATACCTTTTCTATCGGCACATTCCCCCATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAAT... |
Task1_train_27079 | Here is a variant affecting RYR1 (ryanodine receptor 1) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; RYR1-related disorder | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACAT... | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACAT... |
Task1_train_27080 | This mutation occurs in RYR1 (ryanodine receptor 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; King Denborough syndrome | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACAT... | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACAT... |
Task1_train_27081 | This mutation occurs in RYR1 (ryanodine receptor 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Central core myopathy | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACAT... | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACAT... |
Task1_train_27082 | The gene RYR1 (ryanodine receptor 1) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital multicore myopathy with external ophthalmoplegia | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACAT... | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACAT... |
Task1_train_27083 | Located on Chromosome 19, this mutation impacts RYR1 (ryanodine receptor 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACAT... | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACAT... |
Task1_train_27084 | A genomic change on Chromosome 19 affects RYR1 (ryanodine receptor 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Centronuclear myopathy | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACAT... | CATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACAT... |
Task1_train_27085 | This variant lies on Chromosome 19 and affects the gene RYR1 (ryanodine receptor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; RYR1-related disorder | TGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGG... | TGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGG... |
Task1_train_27086 | A variant found in Chromosome 19 affects RYR1 (ryanodine receptor 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Centronuclear myopathy | AATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCTGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTATCAAAAAAAAAACAAAGAGAGAGAAAAACCTCAAAGTTAGTGGTGAGAGGTCTGAGAGAGTTCCGGGGTTAGAGATAGGGGTCCCAAAGTCAAGACAAAGGGGGCTAGAGGTCATTGATGTCAAAGCCCTTGCTAGGGTCCCAGGATCCTAGGGTCAGAAGCC... | AATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCTGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTATCAAAAAAAAAACAAAGAGAGAGAAAAACCTCAAAGTTAGTGGTGAGAGGTCTGAGAGAGTTCCGGGGTTAGAGATAGGGGTCCCAAAGTCAAGACAAAGGGGGCTAGAGGTCATTGATGTCAAAGCCCTTGCTAGGGTCCCAGGATCCTAGGGTCAGAAGCC... |
Task1_train_27087 | This gene mutation involves RYR1 (ryanodine receptor 1) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; RYR1-related disorder | AATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCTGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTATCAAAAAAAAAACAAAGAGAGAGAAAAACCTCAAAGTTAGTGGTGAGAGGTCTGAGAGAGTTCCGGGGTTAGAGATAGGGGTCCCAAAGTCAAGACAAAGGGGGCTAGAGGTCATTGATGTCAAAGCCCTTGCTAGGGTCCCAGGATCCTAGGGTCAGAAGCC... | AATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCTGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTATCAAAAAAAAAACAAAGAGAGAGAAAAACCTCAAAGTTAGTGGTGAGAGGTCTGAGAGAGTTCCGGGGTTAGAGATAGGGGTCCCAAAGTCAAGACAAAGGGGGCTAGAGGTCATTGATGTCAAAGCCCTTGCTAGGGTCCCAGGATCCTAGGGTCAGAAGCC... |
Task1_train_27088 | With a mutation on Chromosome 19 in gene RYR1 (ryanodine receptor 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Central core myopathy | CCTCTAGCTTTGATCCCTAATCACTAATCTCTGAACTGTAGCTACCACATGAAGGCACCCAACCAAGGGCTTAGAGAGCCTGGTCACCCCTACCCCTAACCTGACTCCTGACCTATCACTGGCTTCCAATCCCAGCCTTGACCCCAAACCCTGGCCATGGTCCCCAACCTTCAGTTTCTCAACTCTTGGCCCCAACCTGAATTTCCATCCCTTCCATAATCCTGGCTCTGACCCTCCAATCCTGGTCTCAGCCCTTCATTCTAATCAACCCTGATCTTGACCCTTAACCCCAGACCATAACTCTGACCAGTTCACTGAGC... | CCTCTAGCTTTGATCCCTAATCACTAATCTCTGAACTGTAGCTACCACATGAAGGCACCCAACCAAGGGCTTAGAGAGCCTGGTCACCCCTACCCCTAACCTGACTCCTGACCTATCACTGGCTTCCAATCCCAGCCTTGACCCCAAACCCTGGCCATGGTCCCCAACCTTCAGTTTCTCAACTCTTGGCCCCAACCTGAATTTCCATCCCTTCCATAATCCTGGCTCTGACCCTCCAATCCTGGTCTCAGCCCTTCATTCTAATCAACCCTGATCTTGACCCTTAACCCCAGACCATAACTCTGACCAGTTCACTGAGC... |
Task1_train_27089 | This is a variant in RYR1 (ryanodine receptor 1), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | GTAGTAACTGGGAAAACTTCTGGAACAGGGGGCCCCTTCCACATTGTTCTGGTCCAAGGCCCCATGTGCCGACCTGCCCTGCATGGTGCTCCAAGCCTTGCATTGTCTCCTTCCCAGGGTCCCTGCAGGAGCTGGTGTCCCACATGGTGGTGCGCTGGGCCCAAGAGGACTTCGTGCAGAGCCCCGAGCTGGTGCGGGCCATGTTCAGCCTCCTGCACCGGCAGTACGACGGGCTGGGTGAGCTGCTGCGTGCCCTGCCGCGGGCGTACACCATCTCACCGTCCTCCGTGGAAGACACCATGAGCCTGCTCGAGTGCCTC... | GTAGTAACTGGGAAAACTTCTGGAACAGGGGGCCCCTTCCACATTGTTCTGGTCCAAGGCCCCATGTGCCGACCTGCCCTGCATGGTGCTCCAAGCCTTGCATTGTCTCCTTCCCAGGGTCCCTGCAGGAGCTGGTGTCCCACATGGTGGTGCGCTGGGCCCAAGAGGACTTCGTGCAGAGCCCCGAGCTGGTGCGGGCCATGTTCAGCCTCCTGCACCGGCAGTACGACGGGCTGGGTGAGCTGCTGCGTGCCCTGCCGCGGGCGTACACCATCTCACCGTCCTCCGTGGAAGACACCATGAGCCTGCTCGAGTGCCTC... |
Task1_train_27090 | A mutation in RYR1 (ryanodine receptor 1), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; RYR1-related disorder | CAAGGGCTGCTGGTTGCCCATTTTTATGTTATTTCTTGATGATATGCTGTTTAGCATAACAAGGGGTGGATTATTCATGCCTCCCCTTTCTAAACCATGTAGGGTAACTTTCTGATATTGCCATGACATTTGTAAACTGTCGTGGCGCTGGTGGGAGTGCAGCAGTGAGGATGACCAGAGGTCACTCTCGTTGCCATCTTGGTTTTGGTGGGTTTTGGCCGGCTTCTTTACTGCAGCCTATTTTATCAGCAAGGACTTTATGACCTGTATCTTGTGCCAACCTTCTATCTTGTTCTGTGACTTAGAATGCCTTAACCATC... | CAAGGGCTGCTGGTTGCCCATTTTTATGTTATTTCTTGATGATATGCTGTTTAGCATAACAAGGGGTGGATTATTCATGCCTCCCCTTTCTAAACCATGTAGGGTAACTTTCTGATATTGCCATGACATTTGTAAACTGTCGTGGCGCTGGTGGGAGTGCAGCAGTGAGGATGACCAGAGGTCACTCTCGTTGCCATCTTGGTTTTGGTGGGTTTTGGCCGGCTTCTTTACTGCAGCCTATTTTATCAGCAAGGACTTTATGACCTGTATCTTGTGCCAACCTTCTATCTTGTTCTGTGACTTAGAATGCCTTAACCATC... |
Task1_train_27091 | The gene RYR1 (ryanodine receptor 1) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | ACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGG... | ACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGG... |
Task1_train_27092 | This alteration occurs within gene RYR1 (ryanodine receptor 1) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; RYR1-related disorder | ACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGG... | ACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGG... |
Task1_train_27093 | The gene RYR1 (ryanodine receptor 1) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; RYR1-related disorder | GGCCCTGAGAGGTCCCTGGTGTGAGTGTCAGGATGCCCTGTAGCTGAAGCAGAGTCATCGAGGGGGACGGTGAGATAAACGAGGTCACAGAGGTGACTGGGGCAGATCATGCAGGGCTTTGCAAGCTGTGATGAGGACTTTGACCTTACCTGGAATGAGATGGAGTTGGGGGTTGGGGGCTGAGCCGAGGAGGGACGTGATCCATAATTCTGGTGTTCACAGGGTCCCTCTGGCTTGACTGGGGTGGGGACAGGAGCCGAAAAGGGTGAGAACTGGGCAGATTTCTGGATCTATTTTGAAGGCTGAGGCTGCTGGGGTGC... | GGCCCTGAGAGGTCCCTGGTGTGAGTGTCAGGATGCCCTGTAGCTGAAGCAGAGTCATCGAGGGGGACGGTGAGATAAACGAGGTCACAGAGGTGACTGGGGCAGATCATGCAGGGCTTTGCAAGCTGTGATGAGGACTTTGACCTTACCTGGAATGAGATGGAGTTGGGGGTTGGGGGCTGAGCCGAGGAGGGACGTGATCCATAATTCTGGTGTTCACAGGGTCCCTCTGGCTTGACTGGGGTGGGGACAGGAGCCGAAAAGGGTGAGAACTGGGCAGATTTCTGGATCTATTTTGAAGGCTGAGGCTGCTGGGGTGC... |
Task1_train_27094 | Here’s a variant in RYR1 (ryanodine receptor 1) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | TCAGGAATTTGAGACCAGCCTAGGCAACATGGCTAGACCCTGTCTCTACAAAAAAAGAAAAGAAATACAAAAATTAGTCAGGCATGGTGACACACACCTGTAGTCCTTGCCTCAGGCTGGGACTGGGAGGCTGAGGTGGGAGGATCGTTTGAGCCCAGGAGGTCAAAGCTGCAGTGAGCTATGATCACACCGCTGCACTCCAACCTGGGCAACAGAGATAGACCCTGTCTCAATAAGGTTTGTTTTTTTTTAATACAAGTAAATGAATAAAATAAAATATGTGAACCTACTTAGATTCTGACCCTGTCTCAAAAAAAAAA... | TCAGGAATTTGAGACCAGCCTAGGCAACATGGCTAGACCCTGTCTCTACAAAAAAAGAAAAGAAATACAAAAATTAGTCAGGCATGGTGACACACACCTGTAGTCCTTGCCTCAGGCTGGGACTGGGAGGCTGAGGTGGGAGGATCGTTTGAGCCCAGGAGGTCAAAGCTGCAGTGAGCTATGATCACACCGCTGCACTCCAACCTGGGCAACAGAGATAGACCCTGTCTCAATAAGGTTTGTTTTTTTTTAATACAAGTAAATGAATAAAATAAAATATGTGAACCTACTTAGATTCTGACCCTGTCTCAAAAAAAAAA... |
Task1_train_27095 | Here is a genetic alteration in RYR1 (ryanodine receptor 1) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital multicore myopathy with external ophthalmoplegia | GGGCGCAATCCCTGCAGTCCTCAGAGCAGCCCCTCTTACCTCCTCTCCCTCTCCCTTCCTCCCCAGCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATCTCCCTCCTCCTCTCCATCTCCCTCTTCTCTCATCTCTGTCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATTTCCCTCCTCTCCATTTTCCTCTTCTCCAAGCCTCTCTCTCCTCCCATTTCCCTCCTCCTCCTCCTCCCCATTTTCCCCCTCTTCCATTTCTTTCTTCCTCTCCCCATTACCCCATTTCCTGCTTTCCTCCCTATCCTTCTC... | GGGCGCAATCCCTGCAGTCCTCAGAGCAGCCCCTCTTACCTCCTCTCCCTCTCCCTTCCTCCCCAGCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATCTCCCTCCTCCTCTCCATCTCCCTCTTCTCTCATCTCTGTCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATTTCCCTCCTCTCCATTTTCCTCTTCTCCAAGCCTCTCTCTCCTCCCATTTCCCTCCTCCTCCTCCTCCCCATTTTCCCCCTCTTCCATTTCTTTCTTCCTCTCCCCATTACCCCATTTCCTGCTTTCCTCCCTATCCTTCTC... |
Task1_train_27096 | A mutation found in RYR1 (ryanodine receptor 1) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; RYR1-related disorder | AGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCTTGGCTCACCATCCCTTTCCTTCAGGACCCTGCTGACACCTGGGCCCTGTTGAAGCCCAACTAAGCCCCC... | AGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCTTGGCTCACCATCCCTTTCCTTCAGGACCCTGCTGACACCTGGGCCCTGTTGAAGCCCAACTAAGCCCCC... |
Task1_train_27097 | This mutation occurs in RYR1 (ryanodine receptor 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; RYR1-related disorder | GCTGGGATTACAGGCACGCACCATCATGCCTAACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTCCTGGGATTACAGGCATGAGCCACCACACCTGGCCAGAGGTGGATTTTTGAGACAGACAGTGTCACACTGCTCATGATAGAGGGGTAGGCAAGCAGACGAGGTGAGGGCAGAAGGTGAGGGGTTCCGGTGTGATTATGTCTCCATGCTCTGTGGTTTCTAGAGCCCTTCATGATTTGCAAAGCAT... | GCTGGGATTACAGGCACGCACCATCATGCCTAACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTCCTGGGATTACAGGCATGAGCCACCACACCTGGCCAGAGGTGGATTTTTGAGACAGACAGTGTCACACTGCTCATGATAGAGGGGTAGGCAAGCAGACGAGGTGAGGGCAGAAGGTGAGGGGTTCCGGTGTGATTATGTCTCCATGCTCTGTGGTTTCTAGAGCCCTTCATGATTTGCAAAGCAT... |
Task1_train_27098 | A genomic change on Chromosome 19 affects RYR1 (ryanodine receptor 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Central core myopathy | TGTTGTTGTTTGAGACAGAGTTTCGCTCTTGTTGACCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGG... | TGTTGTTGTTTGAGACAGAGTTTCGCTCTTGTTGACCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGG... |
Task1_train_27099 | A mutation in RYR1 (ryanodine receptor 1), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; RYR1-related disorder | ACTAAAAATACAAAAAAAAAAAAAAAAAAAAATTAGCCAGCCATAGTGGTGCATGCCTGCAATTCCAGCTACTCAGGATGCTGAGGCATGAGAATCGCTTGAACCCAAGAGGCAGAAGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGCCTCAAACAAAGTGGTGGTGGGGGGCGGGGGGGCGGTGAGGGAATCATGTGGAACGAAGGTGGTTCCGTCAGAATTTGTGGGAAGAATGAGGGATGGAGGGAAAGGTGGAGAGAAAGAGGGAGAGATGGAAGATGTTCCTGGC... | ACTAAAAATACAAAAAAAAAAAAAAAAAAAAATTAGCCAGCCATAGTGGTGCATGCCTGCAATTCCAGCTACTCAGGATGCTGAGGCATGAGAATCGCTTGAACCCAAGAGGCAGAAGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGCCTCAAACAAAGTGGTGGTGGGGGGCGGGGGGGCGGTGAGGGAATCATGTGGAACGAAGGTGGTTCCGTCAGAATTTGTGGGAAGAATGAGGGATGGAGGGAAAGGTGGAGAGAAAGAGGGAGAGATGGAAGATGTTCCTGGC... |
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