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_12300 | A mutation on Chromosome 7 affecting SSBP1 (single stranded DNA binding protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Optic atrophy 13 with retinal and foveal abnormalities | TACCATTACATTGAGGGTTAGAGCTTCAACATACAAATTTTGGGGGAAGGGGCACAACTATTCAGTCTATAGCAGGTTGTCTCATTTGGTCTTGATGTTGTGTTTCAGCCCTGAATCGTGTGCACTTACTTGGGCGAGTGGGTCAGGACCCTGTCTTGAGACAGGTGGAAGGAAAAAATCCAGTCACAATATTTTCTCTAGCAACTAATGAGATGTGGCGATCAGGGGATAGTGAAGTTTACCAACTGGGTGAGTACAAAAGACTGGGGTTTTAATTTTATCAGCAATAAATAGATATTATTTATTGCCAGTTATCTAAT... | TACCATTACATTGAGGGTTAGAGCTTCAACATACAAATTTTGGGGGAAGGGGCACAACTATTCAGTCTATAGCAGGTTGTCTCATTTGGTCTTGATGTTGTGTTTCAGCCCTGAATCGTGTGCACTTACTTGGGCGAGTGGGTCAGGACCCTGTCTTGAGACAGGTGGAAGGAAAAAATCCAGTCACAATATTTTCTCTAGCAACTAATGAGATGTGGCGATCAGGGGATAGTGAAGTTTACCAACTGGGTGAGTACAAAAGACTGGGGTTTTAATTTTATCAGCAATAAATAGATATTATTTATTGCCAGTTATCTAAT... |
Task1_train_12301 | This alteration occurs within gene SSBP1 (single stranded DNA binding protein 1) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Optic atrophy 13 with retinal and foveal abnormalities | TACTGTTAATTTTTTTACTAAATATCGTAGTGTTCAAATTTCCTTGATAACTTCATAAACATTCATACATTATATTACATGATTTCTACCTTAAGTCTCTTAGATTTGCCTTTTATCTTTCTTCTTTCCTTTGCTCCAGAGTTCATGTCTTAACCACCATACCTTATTAATAATTTATAATTTGTATAGAATGCTCACATGGTTTCTTACTGCTAAGTTTCTTTGAAAGTGTATTAACCTTGAAAAGCAGTGTAGGTATTTTCCTACCCTCCTGTGGGTCCCAATATAAACCACAAGTGTGGGCAAACTTTAGATTGTTC... | TACTGTTAATTTTTTTACTAAATATCGTAGTGTTCAAATTTCCTTGATAACTTCATAAACATTCATACATTATATTACATGATTTCTACCTTAAGTCTCTTAGATTTGCCTTTTATCTTTCTTCTTTCCTTTGCTCCAGAGTTCATGTCTTAACCACCATACCTTATTAATAATTTATAATTTGTATAGAATGCTCACATGGTTTCTTACTGCTAAGTTTCTTTGAAAGTGTATTAACCTTGAAAAGCAGTGTAGGTATTTTCCTACCCTCCTGTGGGTCCCAATATAAACCACAAGTGTGGGCAAACTTTAGATTGTTC... |
Task1_train_12302 | Gene PRSS1, TRB (serine protease 1| T cell receptor beta locus) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary pancreatitis | ACTGAGCCAAGCATAATCTCACTGCATCGAAAATAGAAAATGATCATCTGATCATTCTGGTTCAGACTGTCAGCCCTGAGCAGGTGGGTCAGTTTGCATCACCTGAGTGCAGATTGCAAGGACAACAGTGAGGCTGCATAAAAAGAACCTATGACAGGATGCACATGAGAGAGACAAATGTCTTCACATTGAAGAAGGGGAGGAGTGCGCCATTGGTTTTCCATCCTCCAGAGGCACTGAGAAAGCTCCTACAGAAACTGTGCCCCCTCCTTCTTTGAAACACTTCCCATCCTTAAGCCTTGGTAGGAAGGAGAGAAATC... | ACTGAGCCAAGCATAATCTCACTGCATCGAAAATAGAAAATGATCATCTGATCATTCTGGTTCAGACTGTCAGCCCTGAGCAGGTGGGTCAGTTTGCATCACCTGAGTGCAGATTGCAAGGACAACAGTGAGGCTGCATAAAAAGAACCTATGACAGGATGCACATGAGAGAGACAAATGTCTTCACATTGAAGAAGGGGAGGAGTGCGCCATTGGTTTTCCATCCTCCAGAGGCACTGAGAAAGCTCCTACAGAAACTGTGCCCCCTCCTTCTTTGAAACACTTCCCATCCTTAAGCCTTGGTAGGAAGGAGAGAAATC... |
Task1_train_12303 | A mutation in PRSS1, TRB (serine protease 1| T cell receptor beta locus), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Vitamin D-dependent rickets type II with alopecia | ACTGAGCCAAGCATAATCTCACTGCATCGAAAATAGAAAATGATCATCTGATCATTCTGGTTCAGACTGTCAGCCCTGAGCAGGTGGGTCAGTTTGCATCACCTGAGTGCAGATTGCAAGGACAACAGTGAGGCTGCATAAAAAGAACCTATGACAGGATGCACATGAGAGAGACAAATGTCTTCACATTGAAGAAGGGGAGGAGTGCGCCATTGGTTTTCCATCCTCCAGAGGCACTGAGAAAGCTCCTACAGAAACTGTGCCCCCTCCTTCTTTGAAACACTTCCCATCCTTAAGCCTTGGTAGGAAGGAGAGAAATC... | ACTGAGCCAAGCATAATCTCACTGCATCGAAAATAGAAAATGATCATCTGATCATTCTGGTTCAGACTGTCAGCCCTGAGCAGGTGGGTCAGTTTGCATCACCTGAGTGCAGATTGCAAGGACAACAGTGAGGCTGCATAAAAAGAACCTATGACAGGATGCACATGAGAGAGACAAATGTCTTCACATTGAAGAAGGGGAGGAGTGCGCCATTGGTTTTCCATCCTCCAGAGGCACTGAGAAAGCTCCTACAGAAACTGTGCCCCCTCCTTCTTTGAAACACTTCCCATCCTTAAGCCTTGGTAGGAAGGAGAGAAATC... |
Task1_train_12304 | A mutation found in PRSS1, TRB (serine protease 1| T cell receptor beta locus) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary pancreatitis | ACTGAGCCAAGCATAATCTCACTGCATCGAAAATAGAAAATGATCATCTGATCATTCTGGTTCAGACTGTCAGCCCTGAGCAGGTGGGTCAGTTTGCATCACCTGAGTGCAGATTGCAAGGACAACAGTGAGGCTGCATAAAAAGAACCTATGACAGGATGCACATGAGAGAGACAAATGTCTTCACATTGAAGAAGGGGAGGAGTGCGCCATTGGTTTTCCATCCTCCAGAGGCACTGAGAAAGCTCCTACAGAAACTGTGCCCCCTCCTTCTTTGAAACACTTCCCATCCTTAAGCCTTGGTAGGAAGGAGAGAAATC... | ACTGAGCCAAGCATAATCTCACTGCATCGAAAATAGAAAATGATCATCTGATCATTCTGGTTCAGACTGTCAGCCCTGAGCAGGTGGGTCAGTTTGCATCACCTGAGTGCAGATTGCAAGGACAACAGTGAGGCTGCATAAAAAGAACCTATGACAGGATGCACATGAGAGAGACAAATGTCTTCACATTGAAGAAGGGGAGGAGTGCGCCATTGGTTTTCCATCCTCCAGAGGCACTGAGAAAGCTCCTACAGAAACTGTGCCCCCTCCTTCTTTGAAACACTTCCCATCCTTAAGCCTTGGTAGGAAGGAGAGAAATC... |
Task1_train_12305 | A mutation on Chromosome 7 affecting PRSS1, TRB (serine protease 1| T cell receptor beta locus) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary pancreatitis | ACTGAGCCAAGCATAATCTCACTGCATCGAAAATAGAAAATGATCATCTGATCATTCTGGTTCAGACTGTCAGCCCTGAGCAGGTGGGTCAGTTTGCATCACCTGAGTGCAGATTGCAAGGACAACAGTGAGGCTGCATAAAAAGAACCTATGACAGGATGCACATGAGAGAGACAAATGTCTTCACATTGAAGAAGGGGAGGAGTGCGCCATTGGTTTTCCATCCTCCAGAGGCACTGAGAAAGCTCCTACAGAAACTGTGCCCCCTCCTTCTTTGAAACACTTCCCATCCTTAAGCCTTGGTAGGAAGGAGAGAAATC... | ACTGAGCCAAGCATAATCTCACTGCATCGAAAATAGAAAATGATCATCTGATCATTCTGGTTCAGACTGTCAGCCCTGAGCAGGTGGGTCAGTTTGCATCACCTGAGTGCAGATTGCAAGGACAACAGTGAGGCTGCATAAAAAGAACCTATGACAGGATGCACATGAGAGAGACAAATGTCTTCACATTGAAGAAGGGGAGGAGTGCGCCATTGGTTTTCCATCCTCCAGAGGCACTGAGAAAGCTCCTACAGAAACTGTGCCCCCTCCTTCTTTGAAACACTTCCCATCCTTAAGCCTTGGTAGGAAGGAGAGAAATC... |
Task1_train_12306 | Chromosome 7 houses a mutation in gene PRSS1, TRB (serine protease 1| T cell receptor beta locus). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Trypsinogen deficiency | ACTGAGCCAAGCATAATCTCACTGCATCGAAAATAGAAAATGATCATCTGATCATTCTGGTTCAGACTGTCAGCCCTGAGCAGGTGGGTCAGTTTGCATCACCTGAGTGCAGATTGCAAGGACAACAGTGAGGCTGCATAAAAAGAACCTATGACAGGATGCACATGAGAGAGACAAATGTCTTCACATTGAAGAAGGGGAGGAGTGCGCCATTGGTTTTCCATCCTCCAGAGGCACTGAGAAAGCTCCTACAGAAACTGTGCCCCCTCCTTCTTTGAAACACTTCCCATCCTTAAGCCTTGGTAGGAAGGAGAGAAATC... | ACTGAGCCAAGCATAATCTCACTGCATCGAAAATAGAAAATGATCATCTGATCATTCTGGTTCAGACTGTCAGCCCTGAGCAGGTGGGTCAGTTTGCATCACCTGAGTGCAGATTGCAAGGACAACAGTGAGGCTGCATAAAAAGAACCTATGACAGGATGCACATGAGAGAGACAAATGTCTTCACATTGAAGAAGGGGAGGAGTGCGCCATTGGTTTTCCATCCTCCAGAGGCACTGAGAAAGCTCCTACAGAAACTGTGCCCCCTCCTTCTTTGAAACACTTCCCATCCTTAAGCCTTGGTAGGAAGGAGAGAAATC... |
Task1_train_12307 | The variant affects gene PRSS1, TRB (serine protease 1| T cell receptor beta locus), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary pancreatitis | AAATAGAAAATGATCATCTGATCATTCTGGTTCAGACTGTCAGCCCTGAGCAGGTGGGTCAGTTTGCATCACCTGAGTGCAGATTGCAAGGACAACAGTGAGGCTGCATAAAAAGAACCTATGACAGGATGCACATGAGAGAGACAAATGTCTTCACATTGAAGAAGGGGAGGAGTGCGCCATTGGTTTTCCATCCTCCAGAGGCACTGAGAAAGCTCCTACAGAAACTGTGCCCCCTCCTTCTTTGAAACACTTCCCATCCTTAAGCCTTGGTAGGAAGGAGAGAAATCTGGAAGCCCAGAATCCTATGGAATGCTGAG... | AAATAGAAAATGATCATCTGATCATTCTGGTTCAGACTGTCAGCCCTGAGCAGGTGGGTCAGTTTGCATCACCTGAGTGCAGATTGCAAGGACAACAGTGAGGCTGCATAAAAAGAACCTATGACAGGATGCACATGAGAGAGACAAATGTCTTCACATTGAAGAAGGGGAGGAGTGCGCCATTGGTTTTCCATCCTCCAGAGGCACTGAGAAAGCTCCTACAGAAACTGTGCCCCCTCCTTCTTTGAAACACTTCCCATCCTTAAGCCTTGGTAGGAAGGAGAGAAATCTGGAAGCCCAGAATCCTATGGAATGCTGAG... |
Task1_train_12308 | The gene PRSS1, TRB (serine protease 1| T cell receptor beta locus) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary pancreatitis | TTACTCATGCCAGAGACTCAGCTCTAGAAATTCTAACTTCAATTGTCTGGGGTAGAGCTTGTGTTCTGGGCTTTTAAGCTTCCCAGGTGATTTTTAATATTTCCAGCCATGCAGCCAAGGTTAAGAATTGCTGTCCTATTGGCCAATAACAAAGTCTACCTTTGTTCTGCCAAAGTGAGCCTGGGGGCTGCCCTCAACTCTGCCCTGACTGCACAGATCTGAGCTATGGGGGAAGGTGGTCATGGCCAGGTCTATGCAGACAGGGGGTTTTCCTAGCTTGGCAAAAGAATCCTGACAATCCAGGGCCCAAATAGCCAGGG... | TTACTCATGCCAGAGACTCAGCTCTAGAAATTCTAACTTCAATTGTCTGGGGTAGAGCTTGTGTTCTGGGCTTTTAAGCTTCCCAGGTGATTTTTAATATTTCCAGCCATGCAGCCAAGGTTAAGAATTGCTGTCCTATTGGCCAATAACAAAGTCTACCTTTGTTCTGCCAAAGTGAGCCTGGGGGCTGCCCTCAACTCTGCCCTGACTGCACAGATCTGAGCTATGGGGGAAGGTGGTCATGGCCAGGTCTATGCAGACAGGGGGTTTTCCTAGCTTGGCAAAAGAATCCTGACAATCCAGGGCCCAAATAGCCAGGG... |
Task1_train_12309 | A variant affecting Chromosome 7, within the gene PRSS1, TRB (serine protease 1| T cell receptor beta locus), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary pancreatitis | TACTCATGCCAGAGACTCAGCTCTAGAAATTCTAACTTCAATTGTCTGGGGTAGAGCTTGTGTTCTGGGCTTTTAAGCTTCCCAGGTGATTTTTAATATTTCCAGCCATGCAGCCAAGGTTAAGAATTGCTGTCCTATTGGCCAATAACAAAGTCTACCTTTGTTCTGCCAAAGTGAGCCTGGGGGCTGCCCTCAACTCTGCCCTGACTGCACAGATCTGAGCTATGGGGGAAGGTGGTCATGGCCAGGTCTATGCAGACAGGGGGTTTTCCTAGCTTGGCAAAAGAATCCTGACAATCCAGGGCCCAAATAGCCAGGGG... | TACTCATGCCAGAGACTCAGCTCTAGAAATTCTAACTTCAATTGTCTGGGGTAGAGCTTGTGTTCTGGGCTTTTAAGCTTCCCAGGTGATTTTTAATATTTCCAGCCATGCAGCCAAGGTTAAGAATTGCTGTCCTATTGGCCAATAACAAAGTCTACCTTTGTTCTGCCAAAGTGAGCCTGGGGGCTGCCCTCAACTCTGCCCTGACTGCACAGATCTGAGCTATGGGGGAAGGTGGTCATGGCCAGGTCTATGCAGACAGGGGGTTTTCCTAGCTTGGCAAAAGAATCCTGACAATCCAGGGCCCAAATAGCCAGGGG... |
Task1_train_12310 | Consider this mutation in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; not specified | CTTCTGTGAGTCTGTCTGCTGGCCTCTGTCTATTATTTTTTTAGTCTTCCACAAGGCAGACACTGATCATTCTCTCTCTGTCCAGATTTATGGCCATCACAAAGAACAATTCTCAGACAGGGAGCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCT... | CTTCTGTGAGTCTGTCTGCTGGCCTCTGTCTATTATTTTTTTAGTCTTCCACAAGGCAGACACTGATCATTCTCTCTCTGTCCAGATTTATGGCCATCACAAAGAACAATTCTCAGACAGGGAGCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCT... |
Task1_train_12311 | A genetic alteration is present in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Congenital myotonia, autosomal dominant form | TTATTTTTTTAGTCTTCCACAAGGCAGACACTGATCATTCTCTCTCTGTCCAGATTTATGGCCATCACAAAGAACAATTCTCAGACAGGGAGCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCTCCTCTAATTGTTTTTAAGAGACAGGGTCTCAC... | TTATTTTTTTAGTCTTCCACAAGGCAGACACTGATCATTCTCTCTCTGTCCAGATTTATGGCCATCACAAAGAACAATTCTCAGACAGGGAGCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCTCCTCTAATTGTTTTTAAGAGACAGGGTCTCAC... |
Task1_train_12312 | A variant has been detected on Chromosome 7 in CLCN1 (chloride voltage-gated channel 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Congenital myotonia, autosomal recessive form | TTATTTTTTTAGTCTTCCACAAGGCAGACACTGATCATTCTCTCTCTGTCCAGATTTATGGCCATCACAAAGAACAATTCTCAGACAGGGAGCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCTCCTCTAATTGTTTTTAAGAGACAGGGTCTCAC... | TTATTTTTTTAGTCTTCCACAAGGCAGACACTGATCATTCTCTCTCTGTCCAGATTTATGGCCATCACAAAGAACAATTCTCAGACAGGGAGCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCTCCTCTAATTGTTTTTAAGAGACAGGGTCTCAC... |
Task1_train_12313 | Gene CLCN1 (chloride voltage-gated channel 1) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Congenital myotonia, autosomal recessive form | GCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCTCCTCTAATTGTTTTTAAGAGACAGGGTCTCACTCTGTCATTCAGACTGAAGTGCAGTGGAGTGATCATAGCTCACTGCAGCCTAGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCT... | GCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCTCCTCTAATTGTTTTTAAGAGACAGGGTCTCACTCTGTCATTCAGACTGAAGTGCAGTGGAGTGATCATAGCTCACTGCAGCCTAGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCT... |
Task1_train_12314 | An alteration has been detected in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Congenital myotonia, autosomal dominant form | GCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCTCCTCTAATTGTTTTTAAGAGACAGGGTCTCACTCTGTCATTCAGACTGAAGTGCAGTGGAGTGATCATAGCTCACTGCAGCCTAGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCT... | GCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCTCCTCTAATTGTTTTTAAGAGACAGGGTCTCACTCTGTCATTCAGACTGAAGTGCAGTGGAGTGATCATAGCTCACTGCAGCCTAGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCT... |
Task1_train_12315 | A variant found in Chromosome 7 affects CLCN1 (chloride voltage-gated channel 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Congenital myotonia, autosomal recessive form | GCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCTCCTCTAATTGTTTTTAAGAGACAGGGTCTCACTCTGTCATTCAGACTGAAGTGCAGTGGAGTGATCATAGCTCACTGCAGCCTAGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCT... | GCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCTCCTCTAATTGTTTTTAAGAGACAGGGTCTCACTCTGTCATTCAGACTGAAGTGCAGTGGAGTGATCATAGCTCACTGCAGCCTAGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCT... |
Task1_train_12316 | A mutation on Chromosome 7 affecting CLCN1 (chloride voltage-gated channel 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Congenital myotonia, autosomal dominant form | GCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCTCCTCTAATTGTTTTTAAGAGACAGGGTCTCACTCTGTCATTCAGACTGAAGTGCAGTGGAGTGATCATAGCTCACTGCAGCCTAGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCT... | GCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCTCCTCTAATTGTTTTTAAGAGACAGGGTCTCACTCTGTCATTCAGACTGAAGTGCAGTGGAGTGATCATAGCTCACTGCAGCCTAGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCT... |
Task1_train_12317 | This alteration in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Smith-Lemli-Opitz syndrome | GGCAGCTGCTTACCTGATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCAC... | GGCAGCTGCTTACCTGATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCAC... |
Task1_train_12318 | This variant impacts the gene CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Congenital myotonia, autosomal dominant form | GGCAGCTGCTTACCTGATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCAC... | GGCAGCTGCTTACCTGATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCAC... |
Task1_train_12319 | This variant lies on Chromosome 7 and affects the gene CLCN1 (chloride voltage-gated channel 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital myotonia, autosomal recessive form | GGCAGCTGCTTACCTGATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCAC... | GGCAGCTGCTTACCTGATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCAC... |
Task1_train_12320 | The gene CLCN1 (chloride voltage-gated channel 1), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Congenital myotonia, autosomal recessive form | TGCTTACCTGATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAAC... | TGCTTACCTGATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAAC... |
Task1_train_12321 | A genetic alteration is present in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Congenital myotonia, autosomal dominant form | TGCTTACCTGATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAAC... | TGCTTACCTGATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAAC... |
Task1_train_12322 | This is a variant in CLCN1 (chloride voltage-gated channel 1), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Congenital myotonia, autosomal recessive form | ATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCC... | ATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCC... |
Task1_train_12323 | A genomic change on Chromosome 7 affects CLCN1 (chloride voltage-gated channel 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Congenital myotonia, autosomal dominant form | ATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCC... | ATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCC... |
Task1_train_12324 | This alteration occurs within gene CLCN1 (chloride voltage-gated channel 1) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Congenital myotonia, autosomal recessive form | ATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCC... | ATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCC... |
Task1_train_12325 | A genetic alteration is present in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Myotonia | ATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCC... | ATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCC... |
Task1_train_12326 | This genomic variant is located on Chromosome 7, within the CLCN1 (chloride voltage-gated channel 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; CLCN1-related disorder | ATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCC... | ATGTGATGTGAAGAGCAGGGCAGAAGGGGTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCC... |
Task1_train_12327 | Given this variant in gene CLCN1 (chloride voltage-gated channel 1) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Congenital myotonia, autosomal dominant form | TGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTA... | TGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTA... |
Task1_train_12328 | A genetic alteration is present in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Batten-Turner congenital myopathy | TCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACA... | TCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACA... |
Task1_train_12329 | A variant on Chromosome 7 in gene CLCN1 (chloride voltage-gated channel 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital myotonia, autosomal dominant form | TCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACA... | TCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACA... |
Task1_train_12330 | A variant was discovered on Chromosome 7, affecting CLCN1 (chloride voltage-gated channel 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital myotonia, autosomal recessive form | TCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACA... | TCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACA... |
Task1_train_12331 | Here is a variant affecting CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Congenital myotonia, autosomal dominant form | TCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACA... | TCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACA... |
Task1_train_12332 | A genetic alteration is present in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Congenital myotonia, autosomal recessive form | TCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACA... | TCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACA... |
Task1_train_12333 | An alteration has been detected in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Congenital myotonia, autosomal recessive form | CATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGC... | CATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGC... |
Task1_train_12334 | With a mutation on Chromosome 7 in gene CLCN1 (chloride voltage-gated channel 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Congenital myotonia, autosomal dominant form | CATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGC... | CATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGC... |
Task1_train_12335 | A variant was discovered in gene CLCN1 (chloride voltage-gated channel 1), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Congenital myotonia, autosomal recessive form | CATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGC... | CATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGC... |
Task1_train_12336 | Assess the clinical impact of this variant on gene CLCN1 (chloride voltage-gated channel 1), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital myotonia, autosomal dominant form | CATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGC... | CATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGC... |
Task1_train_12337 | Here is a genetic alteration in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital myotonia, autosomal recessive form | TTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACAGCGCC... | TTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACAGCGCC... |
Task1_train_12338 | The gene CLCN1 (chloride voltage-gated channel 1) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital myotonia, autosomal dominant form | CCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACGCCTGGCCTCCCAGGAATTTTCAATCCTAGGGGATCTCTGAAATGTAAAGAAATATCTGGATCTGAAAGTGGTAGTGCTATAATAACCCAAAATTCTGAGAGCGCAGGCTGAAGGACGGATGGTTTCGACCTGAAGAGGAGGATTGGGGATGGCTTCCCAGGGAAGGGGACTTGGGACTGACCACTGGAAATCCTCTGCCAAACTGTAGCAGCTGCTGCATTTGGGAGTAACCATTAGGCCACCCTCCCCCTGGTGCAAATGACCTGATGTAACTA... | CCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACGCCTGGCCTCCCAGGAATTTTCAATCCTAGGGGATCTCTGAAATGTAAAGAAATATCTGGATCTGAAAGTGGTAGTGCTATAATAACCCAAAATTCTGAGAGCGCAGGCTGAAGGACGGATGGTTTCGACCTGAAGAGGAGGATTGGGGATGGCTTCCCAGGGAAGGGGACTTGGGACTGACCACTGGAAATCCTCTGCCAAACTGTAGCAGCTGCTGCATTTGGGAGTAACCATTAGGCCACCCTCCCCCTGGTGCAAATGACCTGATGTAACTA... |
Task1_train_12339 | The gene CLCN1 (chloride voltage-gated channel 1) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Congenital myotonia, autosomal recessive form | CCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACGCCTGGCCTCCCAGGAATTTTCAATCCTAGGGGATCTCTGAAATGTAAAGAAATATCTGGATCTGAAAGTGGTAGTGCTATAATAACCCAAAATTCTGAGAGCGCAGGCTGAAGGACGGATGGTTTCGACCTGAAGAGGAGGATTGGGGATGGCTTCCCAGGGAAGGGGACTTGGGACTGACCACTGGAAATCCTCTGCCAAACTGTAGCAGCTGCTGCATTTGGGAGTAACCATTAGGCCACCCTCCCCCTGGTGCAAATGACCTGATGTAACTA... | CCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACGCCTGGCCTCCCAGGAATTTTCAATCCTAGGGGATCTCTGAAATGTAAAGAAATATCTGGATCTGAAAGTGGTAGTGCTATAATAACCCAAAATTCTGAGAGCGCAGGCTGAAGGACGGATGGTTTCGACCTGAAGAGGAGGATTGGGGATGGCTTCCCAGGGAAGGGGACTTGGGACTGACCACTGGAAATCCTCTGCCAAACTGTAGCAGCTGCTGCATTTGGGAGTAACCATTAGGCCACCCTCCCCCTGGTGCAAATGACCTGATGTAACTA... |
Task1_train_12340 | The variant affects gene CLCN1 (chloride voltage-gated channel 1), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Congenital myotonia, autosomal recessive form | GGTATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTC... | GGTATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTC... |
Task1_train_12341 | This sequence change occurs on Chromosome 7, altering CLCN1 (chloride voltage-gated channel 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Congenital myotonia, autosomal dominant form | GGTATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTC... | GGTATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTC... |
Task1_train_12342 | This variant lies on Chromosome 7 and affects the gene CLCN1 (chloride voltage-gated channel 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital myotonia, autosomal dominant form | ATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGT... | ATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGT... |
Task1_train_12343 | Given this context: Chromosome 7, gene CLCN1 (chloride voltage-gated channel 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Congenital myotonia, autosomal recessive form | ATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGT... | ATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGT... |
Task1_train_12344 | Given this context: Chromosome 7, gene CLCN1 (chloride voltage-gated channel 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Tip-toe gait | ATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGT... | ATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGT... |
Task1_train_12345 | Gene CLCN1 (chloride voltage-gated channel 1) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Congenital myotonia, autosomal dominant form | ATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGT... | ATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGT... |
Task1_train_12346 | This variant affects gene CLCN1 (chloride voltage-gated channel 1) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Congenital myotonia, autosomal recessive form | ATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGT... | ATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGT... |
Task1_train_12347 | A variant has been detected on Chromosome 7 in CLCN1 (chloride voltage-gated channel 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; CLCN1-related disorder | ATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGT... | ATCTGACAGTTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGT... |
Task1_train_12348 | A genomic change on Chromosome 7 affects CLCN1 (chloride voltage-gated channel 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Congenital myotonia, autosomal recessive form | TTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGTGCCCCTGCA... | TTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGTGCCCCTGCA... |
Task1_train_12349 | The gene CLCN1 (chloride voltage-gated channel 1) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Congenital myotonia, autosomal dominant form | TTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGTGCCCCTGCA... | TTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGTGCCCCTGCA... |
Task1_train_12350 | A mutation found in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Congenital myotonia, autosomal recessive form | TTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGTGCCCCTGCA... | TTGTGAACCCCATTCAACCCTACATTCTAAGGGATGCAGAGGGCACGGACACTTGGTCCTCATGTTTTGGAGGTTGAAGGCCCATTCGTTTTCAATCTTCTCTGTGTTGGACCCATCCCTTGTCTGAAATAAAAATAAAAAACTCCTAGCCTGAGCAGTTGTGTGGTTTTGAGCATGGGAATCCAAGAGATCATTACTTTCCACTACTGCTTCCACCCAGATTCATGTTTCAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGTGCCCCTGCA... |
Task1_train_12351 | Gene CLCN1 (chloride voltage-gated channel 1) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Congenital myotonia, autosomal dominant form | TCACCTAGCTACACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCT... | TCACCTAGCTACACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCT... |
Task1_train_12352 | The gene CLCN1 (chloride voltage-gated channel 1) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Congenital myotonia, autosomal recessive form | CACCTAGCTACACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTT... | CACCTAGCTACACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTT... |
Task1_train_12353 | A variant affecting Chromosome 7, within the gene CLCN1 (chloride voltage-gated channel 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Congenital myotonia, autosomal dominant form | CACCTAGCTACACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTT... | CACCTAGCTACACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTT... |
Task1_train_12354 | This variant affects gene CLCN1 (chloride voltage-gated channel 1) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Congenital myotonia, autosomal dominant form | CACCTAGCTACACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTT... | CACCTAGCTACACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTT... |
Task1_train_12355 | The gene CLCN1 (chloride voltage-gated channel 1) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Congenital myotonia, autosomal recessive form | CACCTAGCTACACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTT... | CACCTAGCTACACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTT... |
Task1_train_12356 | Here is a genetic alteration in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital myotonia, autosomal dominant form | ACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATT... | ACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATT... |
Task1_train_12357 | A mutation in CLCN1 (chloride voltage-gated channel 1), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Congenital myotonia, autosomal recessive form | ACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATT... | ACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATT... |
Task1_train_12358 | This variant affects gene CLCN1 (chloride voltage-gated channel 1) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Congenital myotonia, autosomal dominant form | ACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATT... | ACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATT... |
Task1_train_12359 | The gene CLCN1 (chloride voltage-gated channel 1) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital myotonia, autosomal dominant form | TGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATT... | TGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATT... |
Task1_train_12360 | Here is a mutation in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Congenital myotonia, autosomal recessive form | TGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATT... | TGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATT... |
Task1_train_12361 | Assess the clinical impact of this variant on gene CLCN1 (chloride voltage-gated channel 1), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital myotonia, autosomal recessive form | TGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATT... | TGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATT... |
Task1_train_12362 | Here is a genetic alteration in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; CLCN1-related disorder | TGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATT... | TGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATT... |
Task1_train_12363 | The gene CLCN1 (chloride voltage-gated channel 1) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Congenital myotonia, autosomal recessive form | TGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATTTCTCAAT... | TGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATTTCTCAAT... |
Task1_train_12364 | A sequence alteration has been identified in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Congenital myotonia, autosomal dominant form | TGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATTTCTCAAT... | TGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATTTCTCAAT... |
Task1_train_12365 | This genomic variant is located on Chromosome 7, within the CLCN1 (chloride voltage-gated channel 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Congenital myotonia, autosomal recessive form | TGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATTTCTCAAT... | TGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTAGCTTACAGTGCAATTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATTTCTCAAT... |
Task1_train_12366 | Consider this mutation in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Congenital myotonia, autosomal dominant form | TTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATTTCTCAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCATG... | TTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATTTCTCAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCATG... |
Task1_train_12367 | Consider this mutation in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Congenital myotonia, autosomal recessive form | TTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATTTCTCAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCATG... | TTGCGCACAGCTCTAAAATTGTGAATACTTTCATCTTGGCAGTTTGTCCTGAGCTTTAGCTGCTACCTTCTTACACCTAATAAGTTTGAGATCCATTTCTGAAATTGGTTTACTTATTTTGGAAGGGATATATAAACCTGTTGCTTTGCTTACATATGACATCTCATACTTCTATTTCTTTTACAGATATTTAAAAAGTTCCACAACTAGCCTTTTTTCCATTCTATTTCTCAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCATG... |
Task1_train_12368 | This gene mutation involves CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital myotonia, autosomal recessive form | ATAAGGGTTCTGTCTTTCCTTCCCAAGAATCATGGAACCAACAATGCAGGTGATTGGCTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGC... | ATAAGGGTTCTGTCTTTCCTTCCCAAGAATCATGGAACCAACAATGCAGGTGATTGGCTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGC... |
Task1_train_12369 | This sequence variant lies in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Congenital myotonia, autosomal dominant form | ATAAGGGTTCTGTCTTTCCTTCCCAAGAATCATGGAACCAACAATGCAGGTGATTGGCTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGC... | ATAAGGGTTCTGTCTTTCCTTCCCAAGAATCATGGAACCAACAATGCAGGTGATTGGCTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGC... |
Task1_train_12370 | This variant affects the gene CLCN1 (chloride voltage-gated channel 1) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Congenital myotonia, autosomal recessive form | ATAAGGGTTCTGTCTTTCCTTCCCAAGAATCATGGAACCAACAATGCAGGTGATTGGCTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGC... | ATAAGGGTTCTGTCTTTCCTTCCCAAGAATCATGGAACCAACAATGCAGGTGATTGGCTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGC... |
Task1_train_12371 | This alteration occurs within gene CLCN1 (chloride voltage-gated channel 1) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Congenital myotonia, autosomal recessive form | TGATTGGCTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGG... | TGATTGGCTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGG... |
Task1_train_12372 | A variant on Chromosome 7 in gene CLCN1 (chloride voltage-gated channel 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital myotonia, autosomal dominant form | TGATTGGCTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGG... | TGATTGGCTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGG... |
Task1_train_12373 | A change on Chromosome 7 affects gene CLCN1 (chloride voltage-gated channel 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Congenital myotonia, autosomal recessive form | TGATTGGCTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGG... | TGATTGGCTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGG... |
Task1_train_12374 | A mutation on Chromosome 7 affecting CLCN1 (chloride voltage-gated channel 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Congenital myotonia, autosomal recessive form | CTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTG... | CTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTG... |
Task1_train_12375 | A variant was discovered on Chromosome 7, affecting CLCN1 (chloride voltage-gated channel 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital myotonia, autosomal recessive form | CTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTG... | CTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTG... |
Task1_train_12376 | Here is a variant affecting CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Congenital myotonia, autosomal dominant form | CTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTG... | CTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTG... |
Task1_train_12377 | Here is a genetic alteration in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital myotonia, autosomal recessive form | CTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTG... | CTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTG... |
Task1_train_12378 | Located on Chromosome 7, this mutation impacts CLCN1 (chloride voltage-gated channel 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Congenital myotonia, autosomal recessive form | CTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTG... | CTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTG... |
Task1_train_12379 | A mutation found in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Congenital myotonia, autosomal dominant form | CTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTG... | CTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTG... |
Task1_train_12380 | The gene CLCN1 (chloride voltage-gated channel 1) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Congenital myotonia, autosomal dominant form | GCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTGCTCCCCTG... | GCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTGCTCCCCTG... |
Task1_train_12381 | A variant on Chromosome 7 in gene CLCN1 (chloride voltage-gated channel 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital myotonia, autosomal recessive form | GCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTGCTCCCCTG... | GCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTGCTCCCCTG... |
Task1_train_12382 | This is a variant in CLCN1 (chloride voltage-gated channel 1), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Congenital myotonia, autosomal recessive form | GCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTGCTCCCCTG... | GCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTGCTCCCCTG... |
Task1_train_12383 | A genetic alteration is present in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Congenital myotonia, autosomal recessive form | GACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTGCTCCCCTGACATAGTTTCTTTCTAAAAGCC... | GACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTGCTCCCCTGACATAGTTTCTTTCTAAAAGCC... |
Task1_train_12384 | Chromosome 7 houses a mutation in gene CLCN1 (chloride voltage-gated channel 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Congenital myotonia, autosomal dominant form | GACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTGCTCCCCTGACATAGTTTCTTTCTAAAAGCC... | GACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGAGAAGTGCTGACCAGCTTTCTAGCTCACTTGGTACGCTGCTCCCCTGACATAGTTTCTTTCTAAAAGCC... |
Task1_train_12385 | Gene CLCN1, LOC123956257 (chloride voltage-gated channel 1| Sharpr-MPRA regulatory region 4117), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hypokalemic periodic paralysis, type 1 | TGAATTCACAAATAGGGAATCCATGAATAATGACAATTAATGTAAATCCCATAGCTTCTTACGTTGTTCCATTTTGATGCTTACATAAGTCATGCTTGTTCTTTAATGCCCAACTTATGGAAGAGTTGGAACTGTTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCCTTCTTTTTCTTTCTTTCTCTTTCTCTCTCTCTCCCTCCCTCTTTCCCTCTCTCTCTCTTTCTCTCTCCCTCCCTCTTTCCCTCTCTCTTTCTCTCTCTCTCTTTTCTTTTCTTTTCTCTTCTTTCTTTTCGACAGAGCCTCACTCT... | TGAATTCACAAATAGGGAATCCATGAATAATGACAATTAATGTAAATCCCATAGCTTCTTACGTTGTTCCATTTTGATGCTTACATAAGTCATGCTTGTTCTTTAATGCCCAACTTATGGAAGAGTTGGAACTGTTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCCTTCTTTTTCTTTCTTTCTCTTTCTCTCTCTCTCCCTCCCTCTTTCCCTCTCTCTCTCTTTCTCTCTCCCTCCCTCTTTCCCTCTCTCTTTCTCTCTCTCTCTTTTCTTTTCTTTTCTCTTCTTTCTTTTCGACAGAGCCTCACTCT... |
Task1_train_12386 | A mutation in CLCN1, LOC123956257 (chloride voltage-gated channel 1| Sharpr-MPRA regulatory region 4117), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hyperkalemic periodic paralysis | GAATTCACAAATAGGGAATCCATGAATAATGACAATTAATGTAAATCCCATAGCTTCTTACGTTGTTCCATTTTGATGCTTACATAAGTCATGCTTGTTCTTTAATGCCCAACTTATGGAAGAGTTGGAACTGTTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCCTTCTTTTTCTTTCTTTCTCTTTCTCTCTCTCTCCCTCCCTCTTTCCCTCTCTCTCTCTTTCTCTCTCCCTCCCTCTTTCCCTCTCTCTTTCTCTCTCTCTCTTTTCTTTTCTTTTCTCTTCTTTCTTTTCGACAGAGCCTCACTCTG... | GAATTCACAAATAGGGAATCCATGAATAATGACAATTAATGTAAATCCCATAGCTTCTTACGTTGTTCCATTTTGATGCTTACATAAGTCATGCTTGTTCTTTAATGCCCAACTTATGGAAGAGTTGGAACTGTTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCCTTCTTTTTCTTTCTTTCTCTTTCTCTCTCTCTCCCTCCCTCTTTCCCTCTCTCTCTCTTTCTCTCTCCCTCCCTCTTTCCCTCTCTCTTTCTCTCTCTCTCTTTTCTTTTCTTTTCTCTTCTTTCTTTTCGACAGAGCCTCACTCTG... |
Task1_train_12387 | The gene CLCN1 (chloride voltage-gated channel 1) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Congenital myotonia, autosomal recessive form | GTGTGGCTATTGAATGACCACTGGAAATAAAGTGAAGCCAGGGATTAAAAATAAGATAGACTATCATTTCTAGCTTATGTCTTTCCCAGGGAAGACTTTAAGGAGCTACCAACTCCCATGTGACCCACTGAGACATTTTAGAGGGATAAGATCTAACAGGAGTTGAAATTCAGGATGTTTTGAACACAATTTTCAGACCAGATGATACCCTTGACAATATCAAGATGTTGATATTGACCAAAAAAACAGTATGGGGGCAGTATGGGAATATTGAAAGATTCAATTATATGTTGCCAGAAGTCCCTACTAGGATTTGTTTA... | GTGTGGCTATTGAATGACCACTGGAAATAAAGTGAAGCCAGGGATTAAAAATAAGATAGACTATCATTTCTAGCTTATGTCTTTCCCAGGGAAGACTTTAAGGAGCTACCAACTCCCATGTGACCCACTGAGACATTTTAGAGGGATAAGATCTAACAGGAGTTGAAATTCAGGATGTTTTGAACACAATTTTCAGACCAGATGATACCCTTGACAATATCAAGATGTTGATATTGACCAAAAAAACAGTATGGGGGCAGTATGGGAATATTGAAAGATTCAATTATATGTTGCCAGAAGTCCCTACTAGGATTTGTTTA... |
Task1_train_12388 | A sequence alteration has been identified in CLCN1 (chloride voltage-gated channel 1) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Congenital myotonia, autosomal dominant form | GTGTGGCTATTGAATGACCACTGGAAATAAAGTGAAGCCAGGGATTAAAAATAAGATAGACTATCATTTCTAGCTTATGTCTTTCCCAGGGAAGACTTTAAGGAGCTACCAACTCCCATGTGACCCACTGAGACATTTTAGAGGGATAAGATCTAACAGGAGTTGAAATTCAGGATGTTTTGAACACAATTTTCAGACCAGATGATACCCTTGACAATATCAAGATGTTGATATTGACCAAAAAAACAGTATGGGGGCAGTATGGGAATATTGAAAGATTCAATTATATGTTGCCAGAAGTCCCTACTAGGATTTGTTTA... | GTGTGGCTATTGAATGACCACTGGAAATAAAGTGAAGCCAGGGATTAAAAATAAGATAGACTATCATTTCTAGCTTATGTCTTTCCCAGGGAAGACTTTAAGGAGCTACCAACTCCCATGTGACCCACTGAGACATTTTAGAGGGATAAGATCTAACAGGAGTTGAAATTCAGGATGTTTTGAACACAATTTTCAGACCAGATGATACCCTTGACAATATCAAGATGTTGATATTGACCAAAAAAACAGTATGGGGGCAGTATGGGAATATTGAAAGATTCAATTATATGTTGCCAGAAGTCCCTACTAGGATTTGTTTA... |
Task1_train_12389 | A mutation found in NOBOX (NOBOX oogenesis homeobox) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Premature ovarian failure 5 | CACCTGATCTTTCCTCCCCTTCTGCTAGAATCTAGTCTTAATATGACAGATGTTTCTGGGATTTCAGAGGTCCAAGTGGCCCAGCAGAATATTAGCTGCCATCTACTCTAGGCCAAATATTTTCACTCCTATTGTATCTAATCCTCACCAAGTCCCTCCCTGACATAGAACTGTGAGTCCCATTTCAGAGTCCCAGAAACTGAGACTCAGGAGAGCTAGTAACTGGCTGAGCTGGACTTCAAGCCTGTTTTCCTGATGCCAAACTCCAGAGTTCTCTGCTAACTCTCACTGTGCTCTGCAGCCTCTGCAGAATTCGAGGG... | CACCTGATCTTTCCTCCCCTTCTGCTAGAATCTAGTCTTAATATGACAGATGTTTCTGGGATTTCAGAGGTCCAAGTGGCCCAGCAGAATATTAGCTGCCATCTACTCTAGGCCAAATATTTTCACTCCTATTGTATCTAATCCTCACCAAGTCCCTCCCTGACATAGAACTGTGAGTCCCATTTCAGAGTCCCAGAAACTGAGACTCAGGAGAGCTAGTAACTGGCTGAGCTGGACTTCAAGCCTGTTTTCCTGATGCCAAACTCCAGAGTTCTCTGCTAACTCTCACTGTGCTCTGCAGCCTCTGCAGAATTCGAGGG... |
Task1_train_12390 | The following genetic variant occurs in NOBOX (NOBOX oogenesis homeobox) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Premature ovarian failure 5 | AGTTCTCTGCTAACTCTCACTGTGCTCTGCAGCCTCTGCAGAATTCGAGGGAGAAGAGCTTAATAGAACTAGGGGCAAACAGAAGGATTCATTCACCACCCATGACCTGCCTCAGTCTACCCTCCAGATAACTTGGCTCTTTGTCCCCTCCCACCTTCCTCAATCTCAAGGGGACCTTCTCTCCCAGCCTCAACTCACCTATATTCCCAGCAGGTGGTTGCATCAGGATCTGTCCTGAGGAGGCACCTGGGCAATAGCCCTGCGATGTGCCCCCGCTGGGGCCACAGGGAAACATAAAGAGAGAGTCTTCGGGCGGTGGA... | AGTTCTCTGCTAACTCTCACTGTGCTCTGCAGCCTCTGCAGAATTCGAGGGAGAAGAGCTTAATAGAACTAGGGGCAAACAGAAGGATTCATTCACCACCCATGACCTGCCTCAGTCTACCCTCCAGATAACTTGGCTCTTTGTCCCCTCCCACCTTCCTCAATCTCAAGGGGACCTTCTCTCCCAGCCTCAACTCACCTATATTCCCAGCAGGTGGTTGCATCAGGATCTGTCCTGAGGAGGCACCTGGGCAATAGCCCTGCGATGTGCCCCCGCTGGGGCCACAGGGAAACATAAAGAGAGAGTCTTCGGGCGGTGGA... |
Task1_train_12391 | Gene TPK1 (thiamin pyrophosphokinase 1) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | TCCAATGAATCCCAAGCCAAATGCATTTCAGAAAGCTCATAATTATACCAATTATAGGGAAAACACAGAAACCCAAAACAGTAAAAATACCTTAATGTAGAATTCATATTTTAGATGTGGCTTTTTCTATCAGTGAATCTGCCAATTATAATTTTAAAAAGTATTGTACTGCATCTTTAACTAGTAATATATTGACCAGAGCATCTATACAGAGACAAGTTATGACTGAATACTTTAGCAGTCATACCATCAATTCAGTGCAATAGAACAAAGCTCATTGCTTCACAATAGTAGTAAGTTTCAAACTTCAGAAGCTGTTG... | TCCAATGAATCCCAAGCCAAATGCATTTCAGAAAGCTCATAATTATACCAATTATAGGGAAAACACAGAAACCCAAAACAGTAAAAATACCTTAATGTAGAATTCATATTTTAGATGTGGCTTTTTCTATCAGTGAATCTGCCAATTATAATTTTAAAAAGTATTGTACTGCATCTTTAACTAGTAATATATTGACCAGAGCATCTATACAGAGACAAGTTATGACTGAATACTTTAGCAGTCATACCATCAATTCAGTGCAATAGAACAAAGCTCATTGCTTCACAATAGTAGTAAGTTTCAAACTTCAGAAGCTGTTG... |
Task1_train_12392 | A genomic change on Chromosome 7 affects TPK1 (thiamin pyrophosphokinase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | AAAGCTCATAATTATACCAATTATAGGGAAAACACAGAAACCCAAAACAGTAAAAATACCTTAATGTAGAATTCATATTTTAGATGTGGCTTTTTCTATCAGTGAATCTGCCAATTATAATTTTAAAAAGTATTGTACTGCATCTTTAACTAGTAATATATTGACCAGAGCATCTATACAGAGACAAGTTATGACTGAATACTTTAGCAGTCATACCATCAATTCAGTGCAATAGAACAAAGCTCATTGCTTCACAATAGTAGTAAGTTTCAAACTTCAGAAGCTGTTGGGAGTCTATGGGTATTTAACAAACATATAAA... | AAAGCTCATAATTATACCAATTATAGGGAAAACACAGAAACCCAAAACAGTAAAAATACCTTAATGTAGAATTCATATTTTAGATGTGGCTTTTTCTATCAGTGAATCTGCCAATTATAATTTTAAAAAGTATTGTACTGCATCTTTAACTAGTAATATATTGACCAGAGCATCTATACAGAGACAAGTTATGACTGAATACTTTAGCAGTCATACCATCAATTCAGTGCAATAGAACAAAGCTCATTGCTTCACAATAGTAGTAAGTTTCAAACTTCAGAAGCTGTTGGGAGTCTATGGGTATTTAACAAACATATAAA... |
Task1_train_12393 | A sequence alteration has been identified in TPK1 (thiamin pyrophosphokinase 1) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | AGTACAATGTTTTATTGAACATCTTCATACATGAACAAACAGTTGTTAAATTATATAAATTTTCTTGGAAGACTTCTATAAGATTACTTATAAATGTGTTGAGAAACATCACACGTGGTTATTTTGAAATTTGGGCCAAAAATAATGGTACTCACCCCCTAAATCTGGTAATCTGTTTTGCTTTCAAATATGAATAAAAGTGTTCTGTTTGAAATCATCTGCTTTGTAGCAACATGGATGCAGCTGGAAGCCATTATCCTAAGTGAATTAATGCAGTAACAGGAATCCAAATACTGCATGTTCTCACTTATAAGTGGGAG... | AGTACAATGTTTTATTGAACATCTTCATACATGAACAAACAGTTGTTAAATTATATAAATTTTCTTGGAAGACTTCTATAAGATTACTTATAAATGTGTTGAGAAACATCACACGTGGTTATTTTGAAATTTGGGCCAAAAATAATGGTACTCACCCCCTAAATCTGGTAATCTGTTTTGCTTTCAAATATGAATAAAAGTGTTCTGTTTGAAATCATCTGCTTTGTAGCAACATGGATGCAGCTGGAAGCCATTATCCTAAGTGAATTAATGCAGTAACAGGAATCCAAATACTGCATGTTCTCACTTATAAGTGGGAG... |
Task1_train_12394 | A genetic alteration is present in EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Weaver syndrome | GCCAACAAGGCAAAACCCCATCTCTACTAAAAACACAAAAATTAGGGGTGGTAGCCCATGCCTATAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGTACTCCAGGCTGATTAGTGACAGAGCAAGACCCTGTCTGTCTTTAAAAAAAAAAAAAAAATCACAAAAAACCTCAATGTTTTAAGAAAGTTTACGAATTTGTGTTGGGCTGTATGCAACCGGCTGTCCACAGGCCAGACAAGCTTGATAGAAGGTTGTATCAAATGGGTT... | GCCAACAAGGCAAAACCCCATCTCTACTAAAAACACAAAAATTAGGGGTGGTAGCCCATGCCTATAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGTACTCCAGGCTGATTAGTGACAGAGCAAGACCCTGTCTGTCTTTAAAAAAAAAAAAAAAATCACAAAAAACCTCAATGTTTTAAGAAAGTTTACGAATTTGTGTTGGGCTGTATGCAACCGGCTGTCCACAGGCCAGACAAGCTTGATAGAAGGTTGTATCAAATGGGTT... |
Task1_train_12395 | Consider this mutation in EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Weaver syndrome | CTAATGGAGTTTAGAACTAGGTACGTTCTTAAAAATAACCTAAAAGTCTACTCTGTCAGTTTATATATGGGGAACAGACTTGGAGGTTAAATCTCTTTCTCCAGGTTGCACAGCTGACTGGAACGTACCCACCCTGGTCTTGTCTATAAGATCAAGCCCTTTACTGGGTAAGCCCTCAGGATGCACAGCAGTGTTCTTCATATATGTCTTCCACATATTCACAGGCAGTATTAGTTAAATCAAGATTCATACAAAGACAACTAAAAAACCCAAGGAGTTAAATTTAAAAGTTTTTTGTTGAGCAGTCCTGAAAGCAGTTA... | CTAATGGAGTTTAGAACTAGGTACGTTCTTAAAAATAACCTAAAAGTCTACTCTGTCAGTTTATATATGGGGAACAGACTTGGAGGTTAAATCTCTTTCTCCAGGTTGCACAGCTGACTGGAACGTACCCACCCTGGTCTTGTCTATAAGATCAAGCCCTTTACTGGGTAAGCCCTCAGGATGCACAGCAGTGTTCTTCATATATGTCTTCCACATATTCACAGGCAGTATTAGTTAAATCAAGATTCATACAAAGACAACTAAAAAACCCAAGGAGTTAAATTTAAAAGTTTTTTGTTGAGCAGTCCTGAAAGCAGTTA... |
Task1_train_12396 | A variant has been detected on Chromosome 7 in EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Weaver syndrome | GACAACTAAAAAACCCAAGGAGTTAAATTTAAAAGTTTTTTGTTGAGCAGTCCTGAAAGCAGTTATTGACACGTTATGAGAGATGATTCAACAAGGACAAGTTCAAGTATTCTTTATTCAAAGTTGAAAAATGTACCATACTGCATTATTGCAAAAATTCACTGGTACAAAACACTTTGCAGCTGGTGAGAAGGCAATAAAAAGTTGATTTTTAAACTCATTACTATAAATTATTCTTACAGTACTTTGCAAATTCAGAATTTCAAACTGCATGTTCTTTTTCTAAATTGCCCACAGTACTCGAGGTTCCTGAAGCTAAG... | GACAACTAAAAAACCCAAGGAGTTAAATTTAAAAGTTTTTTGTTGAGCAGTCCTGAAAGCAGTTATTGACACGTTATGAGAGATGATTCAACAAGGACAAGTTCAAGTATTCTTTATTCAAAGTTGAAAAATGTACCATACTGCATTATTGCAAAAATTCACTGGTACAAAACACTTTGCAGCTGGTGAGAAGGCAATAAAAAGTTGATTTTTAAACTCATTACTATAAATTATTCTTACAGTACTTTGCAAATTCAGAATTTCAAACTGCATGTTCTTTTTCTAAATTGCCCACAGTACTCGAGGTTCCTGAAGCTAAG... |
Task1_train_12397 | A variant found in Chromosome 7 affects EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Weaver syndrome | ACTAAAAAACCCAAGGAGTTAAATTTAAAAGTTTTTTGTTGAGCAGTCCTGAAAGCAGTTATTGACACGTTATGAGAGATGATTCAACAAGGACAAGTTCAAGTATTCTTTATTCAAAGTTGAAAAATGTACCATACTGCATTATTGCAAAAATTCACTGGTACAAAACACTTTGCAGCTGGTGAGAAGGCAATAAAAAGTTGATTTTTAAACTCATTACTATAAATTATTCTTACAGTACTTTGCAAATTCAGAATTTCAAACTGCATGTTCTTTTTCTAAATTGCCCACAGTACTCGAGGTTCCTGAAGCTAAGGCAG... | ACTAAAAAACCCAAGGAGTTAAATTTAAAAGTTTTTTGTTGAGCAGTCCTGAAAGCAGTTATTGACACGTTATGAGAGATGATTCAACAAGGACAAGTTCAAGTATTCTTTATTCAAAGTTGAAAAATGTACCATACTGCATTATTGCAAAAATTCACTGGTACAAAACACTTTGCAGCTGGTGAGAAGGCAATAAAAAGTTGATTTTTAAACTCATTACTATAAATTATTCTTACAGTACTTTGCAAATTCAGAATTTCAAACTGCATGTTCTTTTTCTAAATTGCCCACAGTACTCGAGGTTCCTGAAGCTAAGGCAG... |
Task1_train_12398 | Gene EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Weaver syndrome | GTTTTTTGTTGAGCAGTCCTGAAAGCAGTTATTGACACGTTATGAGAGATGATTCAACAAGGACAAGTTCAAGTATTCTTTATTCAAAGTTGAAAAATGTACCATACTGCATTATTGCAAAAATTCACTGGTACAAAACACTTTGCAGCTGGTGAGAAGGCAATAAAAAGTTGATTTTTAAACTCATTACTATAAATTATTCTTACAGTACTTTGCAAATTCAGAATTTCAAACTGCATGTTCTTTTTCTAAATTGCCCACAGTACTCGAGGTTCCTGAAGCTAAGGCAGCTGTTTCAGAGGAGGGGGGAGGAGGTAGCA... | GTTTTTTGTTGAGCAGTCCTGAAAGCAGTTATTGACACGTTATGAGAGATGATTCAACAAGGACAAGTTCAAGTATTCTTTATTCAAAGTTGAAAAATGTACCATACTGCATTATTGCAAAAATTCACTGGTACAAAACACTTTGCAGCTGGTGAGAAGGCAATAAAAAGTTGATTTTTAAACTCATTACTATAAATTATTCTTACAGTACTTTGCAAATTCAGAATTTCAAACTGCATGTTCTTTTTCTAAATTGCCCACAGTACTCGAGGTTCCTGAAGCTAAGGCAGCTGTTTCAGAGGAGGGGGGAGGAGGTAGCA... |
Task1_train_12399 | A genetic alteration is present in EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Weaver syndrome | TGAGCAAAACATAGCAAAAAAAAAAAAAAATCTGACAAAATTCTTCCAAACATCACGAATAGGCATTTTCACATTTAAAATTAGTTTTTTTCATTATAATGTCTATAAAGCATTCATAGAAAAAAACCTATTCTACTTGTTCCAACTAAGAGTTTCTCTGAATATCTTACATGTTAAGCCTACCTCCATTTTCACATAATCCCACCAGAAACATCCCTACACAGCCTTACATTCTACCCCAGAACATCAGCTATGAAAGCAGCTGCCTTTCCTCTCAGTCCTTTGAGAATATCCAGGGGAGTCTGGAAGATGGTTGCAAA... | TGAGCAAAACATAGCAAAAAAAAAAAAAAATCTGACAAAATTCTTCCAAACATCACGAATAGGCATTTTCACATTTAAAATTAGTTTTTTTCATTATAATGTCTATAAAGCATTCATAGAAAAAAACCTATTCTACTTGTTCCAACTAAGAGTTTCTCTGAATATCTTACATGTTAAGCCTACCTCCATTTTCACATAATCCCACCAGAAACATCCCTACACAGCCTTACATTCTACCCCAGAACATCAGCTATGAAAGCAGCTGCCTTTCCTCTCAGTCCTTTGAGAATATCCAGGGGAGTCTGGAAGATGGTTGCAAA... |
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