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_2000 | A variant was discovered in gene MPZ (myelin protein zero), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Charcot-Marie-Tooth disease, type I | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... |
Task1_train_2001 | A sequence alteration has been identified in MPZ (myelin protein zero) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Charcot-Marie-Tooth disease, type I | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... |
Task1_train_2002 | This mutation occurs in MPZ (myelin protein zero) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease, type I | TGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATT... | TGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATT... |
Task1_train_2003 | Here’s a variant in MPZ (myelin protein zero) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; MPZ-related disorder | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... |
Task1_train_2004 | Here is a mutation in MPZ (myelin protein zero) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease, type I | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... |
Task1_train_2005 | This variant impacts the gene MPZ (myelin protein zero) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate D | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... |
Task1_train_2006 | The following genetic variant occurs in MPZ (myelin protein zero) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Charcot-Marie-Tooth disease type 2J | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... |
Task1_train_2007 | A variant on Chromosome 1 in gene MPZ (myelin protein zero) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Charcot-Marie-Tooth disease type 2I | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... |
Task1_train_2008 | Consider a variant on Chromosome 1 in gene MPZ (myelin protein zero). Determine its clinical classification and disease relevance. | Pathogenic; Charcot-Marie-Tooth disease type 4E | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... |
Task1_train_2009 | This mutation is located in gene MPZ (myelin protein zero) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Roussy-Lévy syndrome | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... |
Task1_train_2010 | This sequence change occurs on Chromosome 1, altering MPZ (myelin protein zero). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Charcot-Marie-Tooth disease type 1B | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... |
Task1_train_2011 | Mutation context: Chromosome 1, Gene MPZ (myelin protein zero). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Dejerine-Sottas disease | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... | ATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGAC... |
Task1_train_2012 | Here is a mutation in MPZ (myelin protein zero) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease type 1B | CCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCA... | CCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCA... |
Task1_train_2013 | A variant was discovered in gene MPZ (myelin protein zero), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Charcot-Marie-Tooth disease type 1B | GGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGT... | GGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGT... |
Task1_train_2014 | A variant affecting Chromosome 1, within the gene MPZ (myelin protein zero), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Charcot-Marie-Tooth disease type 1B | ACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCA... | ACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCA... |
Task1_train_2015 | A genetic alteration is present in MPZ (myelin protein zero) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Charcot-Marie-Tooth disease, type I | AATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAA... | AATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAA... |
Task1_train_2016 | A sequence alteration has been identified in MPZ (myelin protein zero) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Charcot-Marie-Tooth disease, type I | ATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAAC... | ATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAAC... |
Task1_train_2017 | A mutation on Chromosome 1 affecting MPZ (myelin protein zero) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Charcot-Marie-Tooth disease, type I | TTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACC... | TTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACC... |
Task1_train_2018 | This is a variant in MPZ (myelin protein zero), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Dejerine-Sottas disease | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... |
Task1_train_2019 | A variant was discovered in gene MPZ (myelin protein zero), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate D | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... |
Task1_train_2020 | This alteration occurs within gene MPZ (myelin protein zero) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Charcot-Marie-Tooth disease type 2I | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... |
Task1_train_2021 | Assess the clinical impact of this variant on gene MPZ (myelin protein zero), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease type 2J | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... |
Task1_train_2022 | This genomic variant is located on Chromosome 1, within the MPZ (myelin protein zero) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Charcot-Marie-Tooth disease type 4E | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... |
Task1_train_2023 | With a mutation on Chromosome 1 in gene MPZ (myelin protein zero), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Roussy-Lévy syndrome | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... |
Task1_train_2024 | This sequence change occurs on Chromosome 1, altering MPZ (myelin protein zero). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Charcot-Marie-Tooth disease type 1B | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... |
Task1_train_2025 | Here is a genetic alteration in MPZ (myelin protein zero) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... |
Task1_train_2026 | The gene MPZ (myelin protein zero), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate D | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... |
Task1_train_2027 | This alteration in MPZ (myelin protein zero) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease, type I | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... |
Task1_train_2028 | A variant has been detected on Chromosome 1 in MPZ (myelin protein zero). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Neuropathy, congenital hypomyelinating, 2 | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... | CTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAG... |
Task1_train_2029 | A change on Chromosome 1 affects gene MPZ (myelin protein zero). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease, type I | CAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGC... | CAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGC... |
Task1_train_2030 | A variant was discovered in gene MPZ (myelin protein zero), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Charcot-Marie-Tooth disease | TCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGA... | TCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGA... |
Task1_train_2031 | The gene MPZ (myelin protein zero) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Charcot-Marie-Tooth disease, type I | TCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGA... | TCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGA... |
Task1_train_2032 | This is a variant in MPZ (myelin protein zero), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Charcot-Marie-Tooth disease type 1B | AAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTC... | AAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTC... |
Task1_train_2033 | This variant affects gene MPZ (myelin protein zero) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Charcot-Marie-Tooth disease, type I | AAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTC... | AAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTC... |
Task1_train_2034 | This variant affects the gene MPZ (myelin protein zero) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease, type I | CCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGT... | CCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGT... |
Task1_train_2035 | Given this context: Chromosome 1, gene MPZ (myelin protein zero) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Charcot-Marie-Tooth disease type 1B | GCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGT... | GCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGT... |
Task1_train_2036 | Here’s a variant in MPZ (myelin protein zero) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Charcot-Marie-Tooth disease, type I | GCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGT... | GCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGT... |
Task1_train_2037 | Here is a genetic alteration in MPZ (myelin protein zero) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Charcot-Marie-Tooth disease, type I | CCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAA... | CCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAA... |
Task1_train_2038 | Assess the clinical impact of this variant on gene MPZ (myelin protein zero), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease type 2I | CCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAA... | CCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAA... |
Task1_train_2039 | The gene MPZ (myelin protein zero) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate D | CCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAA... | CCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAA... |
Task1_train_2040 | The following genetic variant occurs in MPZ (myelin protein zero) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; See cases | CCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAA... | CCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAA... |
Task1_train_2041 | Here is a variant affecting MPZ (myelin protein zero) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Charcot-Marie-Tooth disease, type I | ATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACA... | ATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACA... |
Task1_train_2042 | This is a variant in MPZ (myelin protein zero), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Charcot-Marie-Tooth disease type 2J | ATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACA... | ATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACA... |
Task1_train_2043 | A genetic alteration is present in MPZ (myelin protein zero) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Charcot-Marie-Tooth disease type 2I | ATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACA... | ATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACA... |
Task1_train_2044 | Chromosome 1 houses a mutation in gene MPZ (myelin protein zero). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate D | ATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACA... | ATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACA... |
Task1_train_2045 | This sequence change occurs on Chromosome 1, altering MPZ (myelin protein zero). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Charcot-Marie-Tooth disease type 1B | ATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACA... | ATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACA... |
Task1_train_2046 | A change on Chromosome 1 affects gene MPZ (myelin protein zero). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease | AAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAAT... | AAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAAT... |
Task1_train_2047 | Here is a variant affecting MPZ (myelin protein zero) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Charcot-Marie-Tooth disease, type I | AAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAAT... | AAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAAT... |
Task1_train_2048 | Gene MPZ (myelin protein zero), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Charcot-Marie-Tooth disease, type I | CCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGG... | CCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGG... |
Task1_train_2049 | Located on Chromosome 1, this mutation impacts MPZ (myelin protein zero). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Charcot-Marie-Tooth disease, type I | AGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATG... | AGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATG... |
Task1_train_2050 | A change on Chromosome 1 affects gene MPZ (myelin protein zero). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease, type I | CTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGA... | CTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGA... |
Task1_train_2051 | A genetic alteration is present in MPZ (myelin protein zero) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS | GGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTG... | GGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTG... |
Task1_train_2052 | The gene MPZ (myelin protein zero) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Charcot-Marie-Tooth disease, type I | TATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGG... | TATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGG... |
Task1_train_2053 | A variant was discovered on Chromosome 1, affecting MPZ (myelin protein zero). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease, type I | GGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGA... | GGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGA... |
Task1_train_2054 | The gene MPZ (myelin protein zero) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAG... | CCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAG... |
Task1_train_2055 | An alteration has been detected in MPZ (myelin protein zero) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Inborn genetic diseases | GGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAG... | GGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAG... |
Task1_train_2056 | Here’s a variant in MPZ (myelin protein zero) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Charcot-Marie-Tooth disease, type I | GGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAG... | GGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAG... |
Task1_train_2057 | A genetic alteration is present in MPZ (myelin protein zero) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Charcot-Marie-Tooth disease | GGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAG... | GGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAG... |
Task1_train_2058 | This variant impacts the gene MPZ (myelin protein zero) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Inborn genetic diseases | GAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCC... | GAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCC... |
Task1_train_2059 | This alteration occurs within gene MPZ (myelin protein zero) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Charcot-Marie-Tooth disease, type I | GAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCC... | GAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCC... |
Task1_train_2060 | This sequence variant lies in MPZ (myelin protein zero) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Charcot-Marie-Tooth disease type 1B | GAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCC... | GAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCC... |
Task1_train_2061 | This variant lies on Chromosome 1 and affects the gene MPZ (myelin protein zero). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; MPZ-related disorder | GAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCC... | GAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCC... |
Task1_train_2062 | The gene MPZ (myelin protein zero) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Charcot-Marie-Tooth disease, type I | GGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGG... | GGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGG... |
Task1_train_2063 | The gene MPZ (myelin protein zero) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Charcot-Marie-Tooth disease type 1B | GGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAG... | GGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAG... |
Task1_train_2064 | A variant was discovered in gene MPZ (myelin protein zero), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Charcot-Marie-Tooth disease type 2I | GGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAG... | GGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAG... |
Task1_train_2065 | Assess the clinical impact of this variant on gene MPZ (myelin protein zero), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease, type I | GGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAG... | GGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAG... |
Task1_train_2066 | With a mutation on Chromosome 1 in gene MPZ (myelin protein zero), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Charcot-Marie-Tooth disease, type I | GATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGG... | GATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGG... |
Task1_train_2067 | Given this context: Chromosome 1, gene SDHC (succinate dehydrogenase complex subunit C) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Gastrointestinal stromal tumor | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... |
Task1_train_2068 | A mutation in SDHC (succinate dehydrogenase complex subunit C), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Paragangliomas 3 | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... |
Task1_train_2069 | Assess the clinical impact of this variant on gene SDHC (succinate dehydrogenase complex subunit C), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... |
Task1_train_2070 | An alteration has been detected in SDHC (succinate dehydrogenase complex subunit C) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Gastrointestinal stromal tumor | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... |
Task1_train_2071 | A variant affecting Chromosome 1, within the gene SDHC (succinate dehydrogenase complex subunit C), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Paragangliomas 3 | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... |
Task1_train_2072 | A variant found in Chromosome 1 affects SDHC (succinate dehydrogenase complex subunit C). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Paragangliomas 3 | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... |
Task1_train_2073 | The gene SDHC (succinate dehydrogenase complex subunit C) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Paragangliomas 3 | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... |
Task1_train_2074 | Gene SDHC (succinate dehydrogenase complex subunit C), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Gastrointestinal stromal tumor | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... |
Task1_train_2075 | A variant has been detected on Chromosome 1 in SDHC (succinate dehydrogenase complex subunit C). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary cancer-predisposing syndrome | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... |
Task1_train_2076 | This variant affects the gene SDHC (succinate dehydrogenase complex subunit C) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Paragangliomas 3 | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... | AAGTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGAC... |
Task1_train_2077 | Consider this mutation in SDHC (succinate dehydrogenase complex subunit C) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Paragangliomas 3 | GTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGACTG... | GTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGACTG... |
Task1_train_2078 | Here is a mutation in SDHC (succinate dehydrogenase complex subunit C) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Gastrointestinal stromal tumor | GTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGACTG... | GTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGACTG... |
Task1_train_2079 | A mutation found in SDHC (succinate dehydrogenase complex subunit C) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Paragangliomas 3 | GTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGACTG... | GTCCATAGGCAAAACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGACTG... |
Task1_train_2080 | This sequence variant lies in SDHC (succinate dehydrogenase complex subunit C) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary cancer-predisposing syndrome | TTTGATGATGAAAAGTATTTCAGAACTACTGTGGATTAAGAAATATATACTAAATCCAGAAGATTGGATATAAAAATTTGGGATAGGTAACTTATTAGGAAATAAGTGGTATGTTCAGTTTGGATATTTTGGGGCATATAATAAGGGAGGATTCAAGGATGACCATGTATTATATGAAACTGTGGATAAATGAAACTCAGGTTTTCTTCCATCAGTGTTATACCTGGAGAAATAGAGGGACCCAGGTTGTATTACAGTGATTGCTTTCTTTCTTTTTCTTTTTTTTGAGATGGAGTCACCCTCTGTCGCCCAGACTGGAG... | TTTGATGATGAAAAGTATTTCAGAACTACTGTGGATTAAGAAATATATACTAAATCCAGAAGATTGGATATAAAAATTTGGGATAGGTAACTTATTAGGAAATAAGTGGTATGTTCAGTTTGGATATTTTGGGGCATATAATAAGGGAGGATTCAAGGATGACCATGTATTATATGAAACTGTGGATAAATGAAACTCAGGTTTTCTTCCATCAGTGTTATACCTGGAGAAATAGAGGGACCCAGGTTGTATTACAGTGATTGCTTTCTTTCTTTTTCTTTTTTTTGAGATGGAGTCACCCTCTGTCGCCCAGACTGGAG... |
Task1_train_2081 | A variant has been detected on Chromosome 1 in SDHC (succinate dehydrogenase complex subunit C). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary pheochromocytoma-paraganglioma | GTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGATA... | GTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGATA... |
Task1_train_2082 | This variant impacts the gene SDHC (succinate dehydrogenase complex subunit C) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary cancer-predisposing syndrome | GTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGATA... | GTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGATA... |
Task1_train_2083 | This is a variant in SDHC (succinate dehydrogenase complex subunit C), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Gastrointestinal stromal tumor | GTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGATA... | GTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGATA... |
Task1_train_2084 | The gene SDHC (succinate dehydrogenase complex subunit C) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Paragangliomas 3 | GTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGATA... | GTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGATA... |
Task1_train_2085 | A genomic change on Chromosome 1 affects SDHC (succinate dehydrogenase complex subunit C). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Paragangliomas 3 | GTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGATAGCCAC... | GTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGATAGCCAC... |
Task1_train_2086 | The variant affects gene SDHC (succinate dehydrogenase complex subunit C), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Gastrointestinal stromal tumor | GTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGATAGCCAC... | GTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGATAGCCAC... |
Task1_train_2087 | Here is a variant affecting SDHC (succinate dehydrogenase complex subunit C) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary cancer-predisposing syndrome | GTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGATAGCCAC... | GTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGATAGCCAC... |
Task1_train_2088 | Chromosome 1 houses a mutation in gene ATF6 (activating transcription factor 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Achromatopsia 7 | CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAGGGAGAGAGAGAGAGAAATTGAGATTCATTCAAGGAAATACCATGGGTAGATCCTTAATATCCAATAAGAAAAATGATTTGGAGAACATTAAAGTTTACATACATTAAAAAAACCCAAATGACACTAAATGCATGTGTCTATAAACATGTTTAAGCACCGTAAAACTAAAAATAAAAGTGGACTAGAATTACACTTTTATTTTTATAAAATAAAATTTTATACCCATAAAATTCATGGTAGAAGTGGCCTACGCCAAGGGAGGAAAATGAAGCAGGGAGGAAAGAGGA... | CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAGGGAGAGAGAGAGAGAAATTGAGATTCATTCAAGGAAATACCATGGGTAGATCCTTAATATCCAATAAGAAAAATGATTTGGAGAACATTAAAGTTTACATACATTAAAAAAACCCAAATGACACTAAATGCATGTGTCTATAAACATGTTTAAGCACCGTAAAACTAAAAATAAAAGTGGACTAGAATTACACTTTTATTTTTATAAAATAAAATTTTATACCCATAAAATTCATGGTAGAAGTGGCCTACGCCAAGGGAGGAAAATGAAGCAGGGAGGAAAGAGGA... |
Task1_train_2089 | This alteration in ATF6 (activating transcription factor 6) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; ATF6-related disorder | AAACACCCTTTTTGACATTTCATGTAACATTTCCTTGTGGGTTCTGATTTAAAGGTTGTTGAAAATATTTGGTGTTGGCAGATCACTTGGTTGGCTTTGGCATACTTCTCTTTCTAGGAAATGTAGTATCAGGGTGGGAATTGTGTTGTTGTTTTAAAAGAAATAGATTACAGGCTGGCACGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACCAAAAATACACAAACAAAATTAGCCAGGCGTG... | AAACACCCTTTTTGACATTTCATGTAACATTTCCTTGTGGGTTCTGATTTAAAGGTTGTTGAAAATATTTGGTGTTGGCAGATCACTTGGTTGGCTTTGGCATACTTCTCTTTCTAGGAAATGTAGTATCAGGGTGGGAATTGTGTTGTTGTTTTAAAAGAAATAGATTACAGGCTGGCACGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACCAAAAATACACAAACAAAATTAGCCAGGCGTG... |
Task1_train_2090 | This genomic variant is located on Chromosome 1, within the ATF6 (activating transcription factor 6) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Achromatopsia 7 | AAACACCCTTTTTGACATTTCATGTAACATTTCCTTGTGGGTTCTGATTTAAAGGTTGTTGAAAATATTTGGTGTTGGCAGATCACTTGGTTGGCTTTGGCATACTTCTCTTTCTAGGAAATGTAGTATCAGGGTGGGAATTGTGTTGTTGTTTTAAAAGAAATAGATTACAGGCTGGCACGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACCAAAAATACACAAACAAAATTAGCCAGGCGTG... | AAACACCCTTTTTGACATTTCATGTAACATTTCCTTGTGGGTTCTGATTTAAAGGTTGTTGAAAATATTTGGTGTTGGCAGATCACTTGGTTGGCTTTGGCATACTTCTCTTTCTAGGAAATGTAGTATCAGGGTGGGAATTGTGTTGTTGTTTTAAAAGAAATAGATTACAGGCTGGCACGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACCAAAAATACACAAACAAAATTAGCCAGGCGTG... |
Task1_train_2091 | Here’s a variant in ATF6 (activating transcription factor 6) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Achromatopsia 7 | AACATTTACTTAGAATATACTGTGTGCCAGTGTTCTAGGCACTGAGAAAAAAATATAGATAGATAGATAGATAGTAAAAATGAAGTCAAAAGCTATTTTATTCATTATACTAATAACTGAGAATTCCTATTAAATGACAATGAGCAGCATATCAGCAATCATGAATGTTTAAAATCCTGAGATTGTATTATCCTGTTGAAATTGATAATTCAAATATGTTTAAATAATAACTAATCATTCTCTGCTAACCAGAATATATCATTCAATTACATTTATTTTAAAAATATATCAATTTTTGGATGCATGGTTATAATGGCATG... | AACATTTACTTAGAATATACTGTGTGCCAGTGTTCTAGGCACTGAGAAAAAAATATAGATAGATAGATAGATAGTAAAAATGAAGTCAAAAGCTATTTTATTCATTATACTAATAACTGAGAATTCCTATTAAATGACAATGAGCAGCATATCAGCAATCATGAATGTTTAAAATCCTGAGATTGTATTATCCTGTTGAAATTGATAATTCAAATATGTTTAAATAATAACTAATCATTCTCTGCTAACCAGAATATATCATTCAATTACATTTATTTTAAAAATATATCAATTTTTGGATGCATGGTTATAATGGCATG... |
Task1_train_2092 | This gene mutation involves NOS1AP (nitric oxide synthase 1 adaptor protein) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Nephrotic syndrome, type 22 | CCATTCAGGAGGAGATGTCCAGGAAGGTTGGCTGAATGGGCCTGGAACTCAGGCAGGAGATGCTGAGATACAATTGTAGATTTGTCCCTTTGATGTTAGGAAGACAGTTTGACATCATTAGAAGGATAGGGGACTGGAAACCACACTAAACAGCCTCTATTTCAGAACCATTTAGAGATGATAGACATGTGAGATGTACTGAAATGCCTGCTAGCTGAGTGTAGCAGAGAAACTACAGTCCCCAAGGTGAACTTGGGTTTTTTCACAGTGTTGTTTTCCTCTCTGTGCCCACCTTTCTTTTGGACTTTCCTCCCAGGCTT... | CCATTCAGGAGGAGATGTCCAGGAAGGTTGGCTGAATGGGCCTGGAACTCAGGCAGGAGATGCTGAGATACAATTGTAGATTTGTCCCTTTGATGTTAGGAAGACAGTTTGACATCATTAGAAGGATAGGGGACTGGAAACCACACTAAACAGCCTCTATTTCAGAACCATTTAGAGATGATAGACATGTGAGATGTACTGAAATGCCTGCTAGCTGAGTGTAGCAGAGAAACTACAGTCCCCAAGGTGAACTTGGGTTTTTTCACAGTGTTGTTTTCCTCTCTGTGCCCACCTTTCTTTTGGACTTTCCTCCCAGGCTT... |
Task1_train_2093 | A sequence alteration has been identified in DDR2 (discoidin domain receptor tyrosine kinase 2) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; not provided | ACTACTGTCAGGAAATTGATTAGAAGTAAACATCTTCTAATAAGAGAATGGGATGGGCCACTGGGGTTATTACCAAGTACAAAGCATAAATTGGCACATTACATTGTATTACATTGATTGTCAGAGTTTGAACCAAAATATAGATTTGGCTGGGGGTCAAATCTCGGAGGCCCAAATTGTATTTGGAGTCAGGGCCAGGAAGACAAGTCTGATAGAGTCAGGGTGATCAAACTGGGGCCATAGAGGAATTTAGGAAGATGTAAATTCTCTTATTCCTTGTTCAATATTCAGTGATATTCTTCCTAGGGGGCTTGGAAATA... | ACTACTGTCAGGAAATTGATTAGAAGTAAACATCTTCTAATAAGAGAATGGGATGGGCCACTGGGGTTATTACCAAGTACAAAGCATAAATTGGCACATTACATTGTATTACATTGATTGTCAGAGTTTGAACCAAAATATAGATTTGGCTGGGGGTCAAATCTCGGAGGCCCAAATTGTATTTGGAGTCAGGGCCAGGAAGACAAGTCTGATAGAGTCAGGGTGATCAAACTGGGGCCATAGAGGAATTTAGGAAGATGTAAATTCTCTTATTCCTTGTTCAATATTCAGTGATATTCTTCCTAGGGGGCTTGGAAATA... |
Task1_train_2094 | The gene DDR2 (discoidin domain receptor tyrosine kinase 2) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Warburg-cinotti syndrome | TGAATGGAAGTAATTTACCTATTTCCTAAGTCTAAAACATCCCCCACTTCATATTTTAAGGCTTTTTTAAGTTAGAATATGTCTTAAGCTAGATCATATGTCTTTAATCTGAAAGTTTTTTATACCTAAAATCAGTTTTTAAGTCAATAACAGTGTCTTAAAATTAAGGAAATAAGTTATTAAACCTTCAACCTTTAATATTCCCACCCTGATATACCATGAGCCTTCCTATAGCTTCACCACACAATTCCACAAGTTTAGCCACAGAATTTGTTAATGATCATGTATTATGAGGAAAAGAATGAGAAATAAAATGATGT... | TGAATGGAAGTAATTTACCTATTTCCTAAGTCTAAAACATCCCCCACTTCATATTTTAAGGCTTTTTTAAGTTAGAATATGTCTTAAGCTAGATCATATGTCTTTAATCTGAAAGTTTTTTATACCTAAAATCAGTTTTTAAGTCAATAACAGTGTCTTAAAATTAAGGAAATAAGTTATTAAACCTTCAACCTTTAATATTCCCACCCTGATATACCATGAGCCTTCCTATAGCTTCACCACACAATTCCACAAGTTTAGCCACAGAATTTGTTAATGATCATGTATTATGAGGAAAAGAATGAGAAATAAAATGATGT... |
Task1_train_2095 | Consider a variant on Chromosome 1 in gene DDR2 (discoidin domain receptor tyrosine kinase 2). Determine its clinical classification and disease relevance. | Pathogenic; Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | TCTTTTTCTACATAAATTGCAGTTTCCAGCCACACTTCATTGTCTGACAGCCTTTCCATTACAATAATGGTGAGTTAATCCTCACCCAGAGAGACAAGCTGGTTGAAAGCTGGCTGTATGTGTCCCAGAGAAATCTCCACACCTGGATAACATATGCATTTTCCCATTTGTGTTGTCTTGATTTGTCTCACTGATATTCATAGTGAAAAAAAGTTTATTATTCTTATTTTCCAAATTATCATAAATTCCAAGAATGGTGATAGACTTCATTAAAAGTCTTGCAATGGACAAGATGTAAGATAAAGAAGAGAGAAAGGTGA... | TCTTTTTCTACATAAATTGCAGTTTCCAGCCACACTTCATTGTCTGACAGCCTTTCCATTACAATAATGGTGAGTTAATCCTCACCCAGAGAGACAAGCTGGTTGAAAGCTGGCTGTATGTGTCCCAGAGAAATCTCCACACCTGGATAACATATGCATTTTCCCATTTGTGTTGTCTTGATTTGTCTCACTGATATTCATAGTGAAAAAAAGTTTATTATTCTTATTTTCCAAATTATCATAAATTCCAAGAATGGTGATAGACTTCATTAAAAGTCTTGCAATGGACAAGATGTAAGATAAAGAAGAGAGAAAGGTGA... |
Task1_train_2096 | The following genetic variant occurs in DDR2 (discoidin domain receptor tyrosine kinase 2) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | TTGTCTGACAGCCTTTCCATTACAATAATGGTGAGTTAATCCTCACCCAGAGAGACAAGCTGGTTGAAAGCTGGCTGTATGTGTCCCAGAGAAATCTCCACACCTGGATAACATATGCATTTTCCCATTTGTGTTGTCTTGATTTGTCTCACTGATATTCATAGTGAAAAAAAGTTTATTATTCTTATTTTCCAAATTATCATAAATTCCAAGAATGGTGATAGACTTCATTAAAAGTCTTGCAATGGACAAGATGTAAGATAAAGAAGAGAGAAAGGTGAGGAAATGAAACTGGAGGCTTTAGAAATTTAACTGATAAT... | TTGTCTGACAGCCTTTCCATTACAATAATGGTGAGTTAATCCTCACCCAGAGAGACAAGCTGGTTGAAAGCTGGCTGTATGTGTCCCAGAGAAATCTCCACACCTGGATAACATATGCATTTTCCCATTTGTGTTGTCTTGATTTGTCTCACTGATATTCATAGTGAAAAAAAGTTTATTATTCTTATTTTCCAAATTATCATAAATTCCAAGAATGGTGATAGACTTCATTAAAAGTCTTGCAATGGACAAGATGTAAGATAAAGAAGAGAGAAAGGTGAGGAAATGAAACTGGAGGCTTTAGAAATTTAACTGATAAT... |
Task1_train_2097 | Here is a genetic alteration in DDR2 (discoidin domain receptor tyrosine kinase 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | TATGTGTCCCAGAGAAATCTCCACACCTGGATAACATATGCATTTTCCCATTTGTGTTGTCTTGATTTGTCTCACTGATATTCATAGTGAAAAAAAGTTTATTATTCTTATTTTCCAAATTATCATAAATTCCAAGAATGGTGATAGACTTCATTAAAAGTCTTGCAATGGACAAGATGTAAGATAAAGAAGAGAGAAAGGTGAGGAAATGAAACTGGAGGCTTTAGAAATTTAACTGATAATTTCAATCTTTAAGATACTGGTAAGAATAAAAAGTGACATTCTCTGGGTCTTATAGAGAGACGAAGTATTTCTTATAT... | TATGTGTCCCAGAGAAATCTCCACACCTGGATAACATATGCATTTTCCCATTTGTGTTGTCTTGATTTGTCTCACTGATATTCATAGTGAAAAAAAGTTTATTATTCTTATTTTCCAAATTATCATAAATTCCAAGAATGGTGATAGACTTCATTAAAAGTCTTGCAATGGACAAGATGTAAGATAAAGAAGAGAGAAAGGTGAGGAAATGAAACTGGAGGCTTTAGAAATTTAACTGATAATTTCAATCTTTAAGATACTGGTAAGAATAAAAAGTGACATTCTCTGGGTCTTATAGAGAGACGAAGTATTTCTTATAT... |
Task1_train_2098 | A genetic alteration is present in NUF2 (NUF2 component of NDC80 kinetochore complex) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Microcephaly | GCCACTGCATCCCAGCCTGAGCAACAGAGTGAGACCTGCTTCTTTTTGAGAAGGAAAGAAAGAAAAATGGATAAATAAAAGGTGTTTTTCTTGAGCCCTCGGTGGATATGAAAAGTCAACTTTTCAATCCACAGTTGGTTAAATCTGCAGATGCAGAATGCACAGATATGGAGGGCTGACTGTACTATGCCATTTTTTGTGTGTTTGTCTTGTTTTGTTTTTTTTGTTTTTGTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACAGTCTCGGCTTACTGCAACCTCCGCCTCCCAGGTTCAAG... | GCCACTGCATCCCAGCCTGAGCAACAGAGTGAGACCTGCTTCTTTTTGAGAAGGAAAGAAAGAAAAATGGATAAATAAAAGGTGTTTTTCTTGAGCCCTCGGTGGATATGAAAAGTCAACTTTTCAATCCACAGTTGGTTAAATCTGCAGATGCAGAATGCACAGATATGGAGGGCTGACTGTACTATGCCATTTTTTGTGTGTTTGTCTTGTTTTGTTTTTTTTGTTTTTGTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACAGTCTCGGCTTACTGCAACCTCCGCCTCCCAGGTTCAAG... |
Task1_train_2099 | A variant found in Chromosome 1 affects NUF2 (NUF2 component of NDC80 kinetochore complex). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Short stature | GCCACTGCATCCCAGCCTGAGCAACAGAGTGAGACCTGCTTCTTTTTGAGAAGGAAAGAAAGAAAAATGGATAAATAAAAGGTGTTTTTCTTGAGCCCTCGGTGGATATGAAAAGTCAACTTTTCAATCCACAGTTGGTTAAATCTGCAGATGCAGAATGCACAGATATGGAGGGCTGACTGTACTATGCCATTTTTTGTGTGTTTGTCTTGTTTTGTTTTTTTTGTTTTTGTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACAGTCTCGGCTTACTGCAACCTCCGCCTCCCAGGTTCAAG... | GCCACTGCATCCCAGCCTGAGCAACAGAGTGAGACCTGCTTCTTTTTGAGAAGGAAAGAAAGAAAAATGGATAAATAAAAGGTGTTTTTCTTGAGCCCTCGGTGGATATGAAAAGTCAACTTTTCAATCCACAGTTGGTTAAATCTGCAGATGCAGAATGCACAGATATGGAGGGCTGACTGTACTATGCCATTTTTTGTGTGTTTGTCTTGTTTTGTTTTTTTTGTTTTTGTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACAGTCTCGGCTTACTGCAACCTCCGCCTCCCAGGTTCAAG... |
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