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_18200 | Mutation context: Chromosome 12, Gene PAH (phenylalanine hydroxylase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Phenylketonuria | TTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCACCTGTTGAGTGCTGGCTGAA... | TTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCACCTGTTGAGTGCTGGCTGAA... |
Task1_train_18201 | A sequence alteration has been identified in LOC126861615, PAH (CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888| phenylalanine hydroxylase) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Phenylketonuria | AACCAAATTCAAATTCTTAGCCTGGATCTGCTCTCTCAATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTT... | AACCAAATTCAAATTCTTAGCCTGGATCTGCTCTCTCAATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTT... |
Task1_train_18202 | A sequence alteration has been identified in LOC126861615, PAH (CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888| phenylalanine hydroxylase) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Phenylketonuria | ACCAAATTCAAATTCTTAGCCTGGATCTGCTCTCTCAATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTG... | ACCAAATTCAAATTCTTAGCCTGGATCTGCTCTCTCAATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTG... |
Task1_train_18203 | A variant has been detected on Chromosome 12 in LOC126861615, PAH (CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888| phenylalanine hydroxylase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Phenylketonuria | AAATTCAAATTCTTAGCCTGGATCTGCTCTCTCAATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGC... | AAATTCAAATTCTTAGCCTGGATCTGCTCTCTCAATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGC... |
Task1_train_18204 | This variant impacts the gene LOC126861615, PAH (CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888| phenylalanine hydroxylase) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Phenylketonuria | ATTCAAATTCTTAGCCTGGATCTGCTCTCTCAATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAA... | ATTCAAATTCTTAGCCTGGATCTGCTCTCTCAATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAA... |
Task1_train_18205 | A genomic change on Chromosome 12 affects LOC126861615, PAH (CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888| phenylalanine hydroxylase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Phenylketonuria | ATTCTTAGCCTGGATCTGCTCTCTCAATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCC... | ATTCTTAGCCTGGATCTGCTCTCTCAATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCC... |
Task1_train_18206 | This sequence variant lies in LOC126861615, PAH (CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888| phenylalanine hydroxylase) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Phenylketonuria | CTCTCAATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCCACTCTTCTGTGGGGTTCCCC... | CTCTCAATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCCACTCTTCTGTGGGGTTCCCC... |
Task1_train_18207 | Gene LOC126861615, PAH (CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888| phenylalanine hydroxylase) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Phenylketonuria | AATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCCACTCTTCTGTGGGGTTCCCCAAAGT... | AATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCCACTCTTCTGTGGGGTTCCCCAAAGT... |
Task1_train_18208 | Located on Chromosome 12, this mutation impacts LOC126861615, PAH (CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888| phenylalanine hydroxylase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Phenylketonuria | AATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCCACTCTTCTGTGGGGTTCCCCAAAGT... | AATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCCACTCTTCTGTGGGGTTCCCCAAAGT... |
Task1_train_18209 | A mutation in LOC126861615, PAH (CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888| phenylalanine hydroxylase), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Phenylketonuria | AGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCCACTCTTCTGTGGGGTTCCCCAAAGTGGAAATGGC... | AGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCCACTCTTCTGTGGGGTTCCCCAAAGTGGAAATGGC... |
Task1_train_18210 | This genomic variant is located on Chromosome 12, within the LOC126861615, PAH (CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888| phenylalanine hydroxylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Phenylketonuria | CTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCCACTCTTCTGTGGGGTTCCCCAAAGTGGAAATGGCTTAAGGAG... | CTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCCACTCTTCTGTGGGGTTCCCCAAAGTGGAAATGGCTTAAGGAG... |
Task1_train_18211 | This sequence change occurs on Chromosome 12, altering LOC126861615, PAH (CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888| phenylalanine hydroxylase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Phenylketonuria | TGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCCACTCTTCTGTGGGGTTCCCCAAAGTGGAAATGGCTTAAGGAGG... | TGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCCACTCTTCTGTGGGGTTCCCCAAAGTGGAAATGGCTTAAGGAGG... |
Task1_train_18212 | Gene LOC126861615, PAH (CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888| phenylalanine hydroxylase), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Phenylketonuria | ATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCCACTCTTCTGTGGGGTTCCCCAAAGTGGAAATGGCTTAAGGAGGAC... | ATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGTTGACTTGAGCAACTGTCCACTCTTCTGTGGGGTTCCCCAAAGTGGAAATGGCTTAAGGAGGAC... |
Task1_train_18213 | A mutation on Chromosome 12 affecting PAH (phenylalanine hydroxylase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Phenylketonuria | TGGTAGCATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCC... | TGGTAGCATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCC... |
Task1_train_18214 | This genomic variant is located on Chromosome 12, within the PAH (phenylalanine hydroxylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Phenylketonuria | TAGCATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTA... | TAGCATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTA... |
Task1_train_18215 | Mutation context: Chromosome 12, Gene PAH (phenylalanine hydroxylase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Phenylketonuria | TAGCATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTA... | TAGCATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTA... |
Task1_train_18216 | Here is a genetic alteration in PAH (phenylalanine hydroxylase) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | AGCATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAA... | AGCATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAA... |
Task1_train_18217 | Given this context: Chromosome 12, gene PAH (phenylalanine hydroxylase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Phenylketonuria | AGCATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAA... | AGCATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAA... |
Task1_train_18218 | The gene PAH (phenylalanine hydroxylase) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Phenylketonuria | CATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAA... | CATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAA... |
Task1_train_18219 | A sequence alteration has been identified in PAH (phenylalanine hydroxylase) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Phenylketonuria | ATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAG... | ATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAG... |
Task1_train_18220 | A genetic alteration is present in PAH (phenylalanine hydroxylase) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Phenylketonuria | TATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAA... | TATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAA... |
Task1_train_18221 | A mutation on Chromosome 12 affecting PAH (phenylalanine hydroxylase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Phenylketonuria | TATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAA... | TATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAA... |
Task1_train_18222 | With a mutation on Chromosome 12 in gene PAH (phenylalanine hydroxylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Phenylketonuria | TTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAA... | TTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAA... |
Task1_train_18223 | With a mutation on Chromosome 12 in gene PAH (phenylalanine hydroxylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Phenylketonuria | TTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAA... | TTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAA... |
Task1_train_18224 | Chromosome 12 houses a mutation in gene PAH (phenylalanine hydroxylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Phenylketonuria | ACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAA... | ACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAA... |
Task1_train_18225 | This sequence variant lies in PAH (phenylalanine hydroxylase) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Phenylketonuria | CAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAG... | CAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAG... |
Task1_train_18226 | Gene PAH (phenylalanine hydroxylase) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Phenylketonuria | AGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGA... | AGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGA... |
Task1_train_18227 | This mutation occurs in PAH (phenylalanine hydroxylase) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Phenylketonuria | TTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAA... | TTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAA... |
Task1_train_18228 | Consider a variant on Chromosome 12 in gene PAH (phenylalanine hydroxylase). Determine its clinical classification and disease relevance. | Pathogenic; Phenylketonuria | TTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAA... | TTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAA... |
Task1_train_18229 | A mutation found in PAH (phenylalanine hydroxylase) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Phenylketonuria | CAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTT... | CAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTT... |
Task1_train_18230 | A variant affecting Chromosome 12, within the gene PAH (phenylalanine hydroxylase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Phenylketonuria | AGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTT... | AGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTT... |
Task1_train_18231 | Given this context: Chromosome 12, gene PAH (phenylalanine hydroxylase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Phenylketonuria | CTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTG... | CTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTG... |
Task1_train_18232 | This variant affects the gene PAH (phenylalanine hydroxylase) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Phenylketonuria | CCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACC... | CCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACC... |
Task1_train_18233 | Chromosome 12 houses a mutation in gene PAH (phenylalanine hydroxylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Phenylketonuria | CCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACC... | CCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACC... |
Task1_train_18234 | Here is a variant affecting PAH (phenylalanine hydroxylase) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Phenylketonuria | GCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGAT... | GCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGAT... |
Task1_train_18235 | A variant found in Chromosome 12 affects PAH (phenylalanine hydroxylase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Phenylketonuria | GAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGG... | GAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGG... |
Task1_train_18236 | A genomic change on Chromosome 12 affects PAH (phenylalanine hydroxylase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Phenylketonuria | AGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGT... | AGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGT... |
Task1_train_18237 | This genomic variant is located on Chromosome 12, within the PAH (phenylalanine hydroxylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Phenylketonuria | AGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGT... | AGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGT... |
Task1_train_18238 | This alteration in PAH (phenylalanine hydroxylase) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Phenylketonuria | GATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTT... | GATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTT... |
Task1_train_18239 | This variant affects gene PAH (phenylalanine hydroxylase) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Phenylketonuria | AGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGAT... | AGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGAT... |
Task1_train_18240 | This mutation is located in gene PAH (phenylalanine hydroxylase) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Phenylketonuria | AGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGAT... | AGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGAT... |
Task1_train_18241 | A mutation on Chromosome 12 affecting PAH (phenylalanine hydroxylase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Phenylketonuria | GAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATG... | GAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATG... |
Task1_train_18242 | Here is a genetic alteration in PAH (phenylalanine hydroxylase) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Phenylketonuria | GAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATG... | GAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATG... |
Task1_train_18243 | This alteration in PAH (phenylalanine hydroxylase) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Inborn genetic diseases | TGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGT... | TGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGT... |
Task1_train_18244 | This sequence variant lies in PAH (phenylalanine hydroxylase) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Phenylketonuria | TGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGT... | TGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGT... |
Task1_train_18245 | A genetic alteration is present in PAH (phenylalanine hydroxylase) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Phenylketonuria | GTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGTGATA... | GTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGTGATA... |
Task1_train_18246 | The gene PAH (phenylalanine hydroxylase) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Phenylketonuria | CAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGTGATAAG... | CAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGTGATAAG... |
Task1_train_18247 | A mutation on Chromosome 12 affecting PAH (phenylalanine hydroxylase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Phenylketonuria | AGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGTGATAAGA... | AGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGTGATAAGA... |
Task1_train_18248 | Gene PAH (phenylalanine hydroxylase) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Phenylketonuria | CAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGTGATAAGATATTC... | CAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGTGATAAGATATTC... |
Task1_train_18249 | The gene PAH (phenylalanine hydroxylase), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Phenylketonuria | CTCGCTGCTTTCTAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAG... | CTCGCTGCTTTCTAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAG... |
Task1_train_18250 | A variant affecting Chromosome 12, within the gene PAH (phenylalanine hydroxylase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Phenylketonuria | CTCGCTGCTTTCTAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAG... | CTCGCTGCTTTCTAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAG... |
Task1_train_18251 | Gene PAH (phenylalanine hydroxylase) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Phenylketonuria | CGCTGCTTTCTAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTC... | CGCTGCTTTCTAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTC... |
Task1_train_18252 | Given this context: Chromosome 12, gene PAH (phenylalanine hydroxylase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Phenylketonuria | CTTTCTAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCC... | CTTTCTAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCC... |
Task1_train_18253 | This alteration occurs within gene PAH (phenylalanine hydroxylase) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Phenylketonuria | TTTCTAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCC... | TTTCTAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCC... |
Task1_train_18254 | Gene PAH (phenylalanine hydroxylase), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Phenylketonuria | GATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTG... | GATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTG... |
Task1_train_18255 | This sequence change occurs on Chromosome 12, altering PAH (phenylalanine hydroxylase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Phenylketonuria | GGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTG... | GGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTG... |
Task1_train_18256 | A variant on Chromosome 12 in gene PAH (phenylalanine hydroxylase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Phenylketonuria | TCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGA... | TCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGA... |
Task1_train_18257 | This genomic variant is located on Chromosome 12, within the PAH (phenylalanine hydroxylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Phenylketonuria | CCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATAT... | CCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATAT... |
Task1_train_18258 | This alteration occurs within gene PAH (phenylalanine hydroxylase) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Phenylketonuria | TGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAAT... | TGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAAT... |
Task1_train_18259 | Located on Chromosome 12, this mutation impacts PAH (phenylalanine hydroxylase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Phenylketonuria | ATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTAC... | ATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTAC... |
Task1_train_18260 | A mutation on Chromosome 12 affecting PAH (phenylalanine hydroxylase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Phenylketonuria | TTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCT... | TTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCT... |
Task1_train_18261 | This variant impacts the gene PAH (phenylalanine hydroxylase) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Phenylketonuria | AAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTG... | AAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTG... |
Task1_train_18262 | A variant was discovered on Chromosome 12, affecting PAH (phenylalanine hydroxylase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Phenylketonuria | CAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATG... | CAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATG... |
Task1_train_18263 | Gene PAH (phenylalanine hydroxylase) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Phenylketonuria | AGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGC... | AGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGC... |
Task1_train_18264 | This sequence variant lies in PAH (phenylalanine hydroxylase) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Phenylketonuria | ATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGC... | ATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGC... |
Task1_train_18265 | Mutation context: Chromosome 12, Gene PAH (phenylalanine hydroxylase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Phenylketonuria | GCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTG... | GCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTG... |
Task1_train_18266 | Assess the clinical impact of this variant on gene PAH (phenylalanine hydroxylase), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Phenylketonuria | CAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGG... | CAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGG... |
Task1_train_18267 | Mutation context: Chromosome 12, Gene PAH (phenylalanine hydroxylase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Phenylketonuria | TAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAG... | TAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAG... |
Task1_train_18268 | Consider a variant on Chromosome 12 in gene PAH (phenylalanine hydroxylase). Determine its clinical classification and disease relevance. | Pathogenic; Phenylketonuria | TAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAG... | TAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAG... |
Task1_train_18269 | An alteration has been detected in PAH (phenylalanine hydroxylase) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Phenylketonuria | AATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGT... | AATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGT... |
Task1_train_18270 | This alteration in PAH (phenylalanine hydroxylase) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Phenylketonuria | AATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGT... | AATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGT... |
Task1_train_18271 | Consider this mutation in PAH (phenylalanine hydroxylase) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Phenylketonuria | AATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGT... | AATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGT... |
Task1_train_18272 | A mutation in PAH (phenylalanine hydroxylase), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Phenylketonuria | GCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGTAAGTTT... | GCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGTAAGTTT... |
Task1_train_18273 | Given this context: Chromosome 12, gene PAH (phenylalanine hydroxylase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Phenylketonuria | GCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGTAAGTTT... | GCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGTAAGTTT... |
Task1_train_18274 | The variant affects gene PAH (phenylalanine hydroxylase), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Phenylketonuria | CCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGTAAGTTTACCTAATTAA... | CCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGTAAGTTTACCTAATTAA... |
Task1_train_18275 | A genomic change on Chromosome 12 affects PAH (phenylalanine hydroxylase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Phenylketonuria | CATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGTAAGTTTACCTAATTAAG... | CATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGTAAGTTTACCTAATTAAG... |
Task1_train_18276 | Here is a genetic alteration in PAH (phenylalanine hydroxylase) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Phenylketonuria | CATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGTAAGTTTACCTAATTAAG... | CATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGTAAGTTTACCTAATTAAG... |
Task1_train_18277 | A variant has been detected on Chromosome 12 in PAH (phenylalanine hydroxylase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Phenylketonuria | AACGAAAGCACAAAAATGTTAAAAATGTGACACTAAACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAG... | AACGAAAGCACAAAAATGTTAAAAATGTGACACTAAACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAG... |
Task1_train_18278 | This mutation is located in gene PAH (phenylalanine hydroxylase) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not specified | AACGAAAGCACAAAAATGTTAAAAATGTGACACTAAACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAG... | AACGAAAGCACAAAAATGTTAAAAATGTGACACTAAACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAG... |
Task1_train_18279 | The gene PAH (phenylalanine hydroxylase) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Phenylketonuria | ACGAAAGCACAAAAATGTTAAAAATGTGACACTAAACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGA... | ACGAAAGCACAAAAATGTTAAAAATGTGACACTAAACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGA... |
Task1_train_18280 | Here is a mutation in PAH (phenylalanine hydroxylase) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Phenylketonuria | AAAGCACAAAAATGTTAAAAATGTGACACTAAACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAG... | AAAGCACAAAAATGTTAAAAATGTGACACTAAACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAG... |
Task1_train_18281 | This sequence change occurs on Chromosome 12, altering PAH (phenylalanine hydroxylase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Phenylketonuria | AAAGCACAAAAATGTTAAAAATGTGACACTAAACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAG... | AAAGCACAAAAATGTTAAAAATGTGACACTAAACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAG... |
Task1_train_18282 | Here is a mutation in PAH (phenylalanine hydroxylase) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Phenylketonuria | TTAAAAATGTGACACTAAACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAGACATGGTAAAAAGA... | TTAAAAATGTGACACTAAACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAGACATGGTAAAAAGA... |
Task1_train_18283 | Gene PAH (phenylalanine hydroxylase) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Phenylketonuria | ACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAGACATGGTAAAAAGAGCACCGAAAGCTTAAATG... | ACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAGACATGGTAAAAAGAGCACCGAAAGCTTAAATG... |
Task1_train_18284 | Given a variant located on Chromosome 12 and affecting PAH (phenylalanine hydroxylase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Phenylketonuria | CAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAGACATGGTAAAAAGAGCACCGAAAGCTTAAATGA... | CAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAGACATGGTAAAAAGAGCACCGAAAGCTTAAATGA... |
Task1_train_18285 | A variant was discovered on Chromosome 12, affecting PAH (phenylalanine hydroxylase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Phenylketonuria | GTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAGACATGGTAAAAAGAGCACCGAAAGCTTAAATGAGATGAGAT... | GTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAGACATGGTAAAAAGAGCACCGAAAGCTTAAATGAGATGAGAT... |
Task1_train_18286 | This alteration occurs within gene PAH (phenylalanine hydroxylase) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Phenylketonuria | AGAATAACGCCCTGCTGGGCAGACCCCTTGGATGGGTCAGAGGTGAACAGACAGCTTTTCTGAGAACCAGTATCTTTGGAGATGCTTTGCTGACAGAGTTGATGGCTAAGAGGCCCCAGACAGAGATCTGTTGAACGGGTACACAGAGCAGAATCCCACCTGGAGCAACCTTGGCGCCCCAGGGCTCCTGGGAGTAGGCTACATGGTATATAGGATGGAATGGGGGTCAAAAGTCCCCACATTTACCTTTACTTTTCGGGGAGAGAGAGTATTTAAGTAATATACACTAGGAGCTTTAAATTTAATTCCTATCCTCAGTT... | AGAATAACGCCCTGCTGGGCAGACCCCTTGGATGGGTCAGAGGTGAACAGACAGCTTTTCTGAGAACCAGTATCTTTGGAGATGCTTTGCTGACAGAGTTGATGGCTAAGAGGCCCCAGACAGAGATCTGTTGAACGGGTACACAGAGCAGAATCCCACCTGGAGCAACCTTGGCGCCCCAGGGCTCCTGGGAGTAGGCTACATGGTATATAGGATGGAATGGGGGTCAAAAGTCCCCACATTTACCTTTACTTTTCGGGGAGAGAGAGTATTTAAGTAATATACACTAGGAGCTTTAAATTTAATTCCTATCCTCAGTT... |
Task1_train_18287 | This sequence change occurs on Chromosome 12, altering PAH (phenylalanine hydroxylase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Phenylketonuria | AGAATAACGCCCTGCTGGGCAGACCCCTTGGATGGGTCAGAGGTGAACAGACAGCTTTTCTGAGAACCAGTATCTTTGGAGATGCTTTGCTGACAGAGTTGATGGCTAAGAGGCCCCAGACAGAGATCTGTTGAACGGGTACACAGAGCAGAATCCCACCTGGAGCAACCTTGGCGCCCCAGGGCTCCTGGGAGTAGGCTACATGGTATATAGGATGGAATGGGGGTCAAAAGTCCCCACATTTACCTTTACTTTTCGGGGAGAGAGAGTATTTAAGTAATATACACTAGGAGCTTTAAATTTAATTCCTATCCTCAGTT... | AGAATAACGCCCTGCTGGGCAGACCCCTTGGATGGGTCAGAGGTGAACAGACAGCTTTTCTGAGAACCAGTATCTTTGGAGATGCTTTGCTGACAGAGTTGATGGCTAAGAGGCCCCAGACAGAGATCTGTTGAACGGGTACACAGAGCAGAATCCCACCTGGAGCAACCTTGGCGCCCCAGGGCTCCTGGGAGTAGGCTACATGGTATATAGGATGGAATGGGGGTCAAAAGTCCCCACATTTACCTTTACTTTTCGGGGAGAGAGAGTATTTAAGTAATATACACTAGGAGCTTTAAATTTAATTCCTATCCTCAGTT... |
Task1_train_18288 | This alteration in PAH (phenylalanine hydroxylase) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Phenylketonuria | GAACCAGTATCTTTGGAGATGCTTTGCTGACAGAGTTGATGGCTAAGAGGCCCCAGACAGAGATCTGTTGAACGGGTACACAGAGCAGAATCCCACCTGGAGCAACCTTGGCGCCCCAGGGCTCCTGGGAGTAGGCTACATGGTATATAGGATGGAATGGGGGTCAAAAGTCCCCACATTTACCTTTACTTTTCGGGGAGAGAGAGTATTTAAGTAATATACACTAGGAGCTTTAAATTTAATTCCTATCCTCAGTTTAAATATAACTTAGTTTAATTTCACAACTAATATTCAAGGCAGCCATTGGAAGTTCACGTGAA... | GAACCAGTATCTTTGGAGATGCTTTGCTGACAGAGTTGATGGCTAAGAGGCCCCAGACAGAGATCTGTTGAACGGGTACACAGAGCAGAATCCCACCTGGAGCAACCTTGGCGCCCCAGGGCTCCTGGGAGTAGGCTACATGGTATATAGGATGGAATGGGGGTCAAAAGTCCCCACATTTACCTTTACTTTTCGGGGAGAGAGAGTATTTAAGTAATATACACTAGGAGCTTTAAATTTAATTCCTATCCTCAGTTTAAATATAACTTAGTTTAATTTCACAACTAATATTCAAGGCAGCCATTGGAAGTTCACGTGAA... |
Task1_train_18289 | Located on Chromosome 12, this mutation impacts PAH (phenylalanine hydroxylase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Phenylketonuria | CAGTATCTTTGGAGATGCTTTGCTGACAGAGTTGATGGCTAAGAGGCCCCAGACAGAGATCTGTTGAACGGGTACACAGAGCAGAATCCCACCTGGAGCAACCTTGGCGCCCCAGGGCTCCTGGGAGTAGGCTACATGGTATATAGGATGGAATGGGGGTCAAAAGTCCCCACATTTACCTTTACTTTTCGGGGAGAGAGAGTATTTAAGTAATATACACTAGGAGCTTTAAATTTAATTCCTATCCTCAGTTTAAATATAACTTAGTTTAATTTCACAACTAATATTCAAGGCAGCCATTGGAAGTTCACGTGAAAATA... | CAGTATCTTTGGAGATGCTTTGCTGACAGAGTTGATGGCTAAGAGGCCCCAGACAGAGATCTGTTGAACGGGTACACAGAGCAGAATCCCACCTGGAGCAACCTTGGCGCCCCAGGGCTCCTGGGAGTAGGCTACATGGTATATAGGATGGAATGGGGGTCAAAAGTCCCCACATTTACCTTTACTTTTCGGGGAGAGAGAGTATTTAAGTAATATACACTAGGAGCTTTAAATTTAATTCCTATCCTCAGTTTAAATATAACTTAGTTTAATTTCACAACTAATATTCAAGGCAGCCATTGGAAGTTCACGTGAAAATA... |
Task1_train_18290 | A variant affecting Chromosome 12, within the gene PAH (phenylalanine hydroxylase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Phenylketonuria | GTGACATTCTTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGA... | GTGACATTCTTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGA... |
Task1_train_18291 | Here’s a variant in PAH (phenylalanine hydroxylase) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Phenylketonuria | TTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACC... | TTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACC... |
Task1_train_18292 | This sequence variant lies in PAH (phenylalanine hydroxylase) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Phenylketonuria | AAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGG... | AAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGG... |
Task1_train_18293 | This variant lies on Chromosome 12 and affects the gene PAH (phenylalanine hydroxylase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Phenylketonuria | AGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGT... | AGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGT... |
Task1_train_18294 | Consider a variant on Chromosome 12 in gene PAH (phenylalanine hydroxylase). Determine its clinical classification and disease relevance. | Pathogenic; Phenylketonuria | GGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATA... | GGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATA... |
Task1_train_18295 | This sequence change occurs on Chromosome 12, altering PAH (phenylalanine hydroxylase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Phenylketonuria | GCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTG... | GCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTG... |
Task1_train_18296 | An alteration has been detected in PAH (phenylalanine hydroxylase) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Phenylketonuria | TGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACAC... | TGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACAC... |
Task1_train_18297 | A genomic change on Chromosome 12 affects PAH (phenylalanine hydroxylase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Phenylketonuria | AAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTT... | AAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTT... |
Task1_train_18298 | A mutation in PAH (phenylalanine hydroxylase), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Phenylketonuria | CTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGG... | CTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGG... |
Task1_train_18299 | This variant impacts the gene PAH (phenylalanine hydroxylase) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Phenylketonuria | CTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGC... | CTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGC... |
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