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 |
|---|---|---|---|---|
Task1_train_28600 | Given this context: Chromosome 22, gene TANGO2 (transport and golgi organization 2 homolog) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TGCCTTGTGGTCTCCTGTGGGTGCCCGCTTCCGCCTACTGCTGAGTTCTCCTCTCCTTGCCATGCCATCAGGTCAGGAATGAGCATGGGGAAGGAGCTGGAGCATGGAGCGGCTTGGCCTCAGTCTGGCCTGATTTCATGGTCCCCAGCTGTACCCCGTGTTAGGTGGGTGGCAGGTGGCAATTTGCCCTGACATGGCACAGCAGGGCCTCTGCATGGCCCGCTGATTGCTCCTCACAGGCACCTACGGGCTGAGCAACGCGCTGCTGGAGACTCCCTGGAGGAAGCTGTGCTTTGGGAAGCAGCTCTTCCTGGAGGCTG... | TGCCTTGTGGTCTCCTGTGGGTGCCCGCTTCCGCCTACTGCTGAGTTCTCCTCTCCTTGCCATGCCATCAGGTCAGGAATGAGCATGGGGAAGGAGCTGGAGCATGGAGCGGCTTGGCCTCAGTCTGGCCTGATTTCATGGTCCCCAGCTGTACCCCGTGTTAGGTGGGTGGCAGGTGGCAATTTGCCCTGACATGGCACAGCAGGGCCTCTGCATGGCCCGCTGATTGCTCCTCACAGGCACCTACGGGCTGAGCAACGCGCTGCTGGAGACTCCCTGGAGGAAGCTGTGCTTTGGGAAGCAGCTCTTCCTGGAGGCTG... |
Task1_train_28601 | Gene SCARF2 (scavenger receptor class F member 2) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Van den Ende-Gupta syndrome | CTTCCTGCGTCGAGAGGTGTTTCTCCCAGATACCCCGCGCTGTCATCCTTACCTACGACTTTGGGTAGTTTCTGCCTCCGGAGCGGGATCCGGGGCAGCTTCATGCTGATGCGACTGAAGCGCCCGCATAGTCGGTGCGGCGCCTTCTTCCTCCCAAGCGAAAGCTCCCTGCGGGGGCGGGGTCTGAGCGGAGGGGCGGGGCCGGGGCGGGGCCCAGGGGCGATTAGATCTCGGCCGGAGCCAAGCACAGAAGGGGCGGGGCCACGTCCGGGGCAGGGGCGCGGAAGGGTTGGATCTGGGTCCGGTGGCACCCAGAGGGT... | CTTCCTGCGTCGAGAGGTGTTTCTCCCAGATACCCCGCGCTGTCATCCTTACCTACGACTTTGGGTAGTTTCTGCCTCCGGAGCGGGATCCGGGGCAGCTTCATGCTGATGCGACTGAAGCGCCCGCATAGTCGGTGCGGCGCCTTCTTCCTCCCAAGCGAAAGCTCCCTGCGGGGGCGGGGTCTGAGCGGAGGGGCGGGGCCGGGGCGGGGCCCAGGGGCGATTAGATCTCGGCCGGAGCCAAGCACAGAAGGGGCGGGGCCACGTCCGGGGCAGGGGCGCGGAAGGGTTGGATCTGGGTCCGGTGGCACCCAGAGGGT... |
Task1_train_28602 | This mutation is located in gene SCARF2 (scavenger receptor class F member 2) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Van den Ende-Gupta syndrome | CAGGGTCCCAGAACCGGGCTCTCTCTCGCTGCATTCGTCGTCTAGGGATTGAAGCCCCGCCCCGCCCGTGGCACATATTGGGTAGTGGATGTTTTGGAAACGAATGTTGCACAACACTAGTGGGGGGGCCTGGGGGATAGGACCCGTGGTGGCCGCGCCGCAGCGCCCACTGCTGGGGCTGACTCGGCTAGGTGGGAAGAGGGGCTGCTGAACCAGACCCTTGGCTGTAAGTGGAGGTCCCTGGTCCTTCTGTACCAACTCGGGGTCACCTTAAGAGCCCACTGACACAGGCTGGACTGGTCACCAGATCCTGCGCTGAA... | CAGGGTCCCAGAACCGGGCTCTCTCTCGCTGCATTCGTCGTCTAGGGATTGAAGCCCCGCCCCGCCCGTGGCACATATTGGGTAGTGGATGTTTTGGAAACGAATGTTGCACAACACTAGTGGGGGGGCCTGGGGGATAGGACCCGTGGTGGCCGCGCCGCAGCGCCCACTGCTGGGGCTGACTCGGCTAGGTGGGAAGAGGGGCTGCTGAACCAGACCCTTGGCTGTAAGTGGAGGTCCCTGGTCCTTCTGTACCAACTCGGGGTCACCTTAAGAGCCCACTGACACAGGCTGGACTGGTCACCAGATCCTGCGCTGAA... |
Task1_train_28603 | Gene PI4KA (phosphatidylinositol 4-kinase alpha) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | TGGCTGAAGGCGTGGGCAGGATCGTGGGGAAGGTGGTTGGAATTAGATGTCCAGAGCAAGAATTTACTGGCACAGGTGGGCAGACAGAGGTGACCAAAGGACAGGTGTAGGTCAGCAGGTGGCTGCTAGCACCTACCTCACTCTCTGGAACCGGATTCCCTTCATCCTAAAGGGGATCTCAGAACGTTCCACACACCCCCTCCGCCTCCACCCTGGCCCTCACCCAGGCTCACCGCACAGCCAGGTAGCCTCGGACACACATCTCCATGAACCACTTGAAGGGTGTGGCCTCCATCTTGCCCCCCATGATCATCACCATC... | TGGCTGAAGGCGTGGGCAGGATCGTGGGGAAGGTGGTTGGAATTAGATGTCCAGAGCAAGAATTTACTGGCACAGGTGGGCAGACAGAGGTGACCAAAGGACAGGTGTAGGTCAGCAGGTGGCTGCTAGCACCTACCTCACTCTCTGGAACCGGATTCCCTTCATCCTAAAGGGGATCTCAGAACGTTCCACACACCCCCTCCGCCTCCACCCTGGCCCTCACCCAGGCTCACCGCACAGCCAGGTAGCCTCGGACACACATCTCCATGAACCACTTGAAGGGTGTGGCCTCCATCTTGCCCCCCATGATCATCACCATC... |
Task1_train_28604 | The gene PI4KA (phosphatidylinositol 4-kinase alpha) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Spastic paraplegia 84, autosomal recessive | CCCCTCCCCAGCAGTTGTGGCCTTCCCGATGCGGGAACAGAGGCCCTGCATACATGTCCTGCCCTCTCTGGGAAGCCGTGCTGTTGTGTGAGCTCAACACAATGTGTTGGGAAGAAATGGTTAAACCGGGGTCCTGCAGGGCACTCCACAGCTGAGACCAGCCGCTGTGAACATCTGCACAGGACAGAGTTTGGAAGACAAGTTTGTGCCAATAGTTAGAAATGCAGAGAGAGGCCGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGATTGAGGCCATCC... | CCCCTCCCCAGCAGTTGTGGCCTTCCCGATGCGGGAACAGAGGCCCTGCATACATGTCCTGCCCTCTCTGGGAAGCCGTGCTGTTGTGTGAGCTCAACACAATGTGTTGGGAAGAAATGGTTAAACCGGGGTCCTGCAGGGCACTCCACAGCTGAGACCAGCCGCTGTGAACATCTGCACAGGACAGAGTTTGGAAGACAAGTTTGTGCCAATAGTTAGAAATGCAGAGAGAGGCCGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGATTGAGGCCATCC... |
Task1_train_28605 | With a mutation on Chromosome 22 in gene PI4KA (phosphatidylinositol 4-kinase alpha), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Gastrointestinal defects and immunodeficiency syndrome 2 | TCAGACACAGGGTGCAGTGGGCAGGCTGGCGCGAGGGCAGAGGCGGCTCGGGCTCCTGGCTGTGGTCATTCCCATGGATATTTTCTGTGCCATGACCTGTGCTGAGCACTTTATGTCCATGGATACTGTTACGGGCTGAACTGTGTCCCTTCAAATTCATATGTTACAGGACCTCAGAATGGTACTGTATTTGGAGATAGGGTCTTTATAGAGATGATTAAGGTAAAATGAGGTCAATAGGGTGGGTCCTAATCTAGTATGACAGGTGTTCTTATAAGGGGAGATTAGGACACAGACACACACAAAAGGATGACCCTGTA... | TCAGACACAGGGTGCAGTGGGCAGGCTGGCGCGAGGGCAGAGGCGGCTCGGGCTCCTGGCTGTGGTCATTCCCATGGATATTTTCTGTGCCATGACCTGTGCTGAGCACTTTATGTCCATGGATACTGTTACGGGCTGAACTGTGTCCCTTCAAATTCATATGTTACAGGACCTCAGAATGGTACTGTATTTGGAGATAGGGTCTTTATAGAGATGATTAAGGTAAAATGAGGTCAATAGGGTGGGTCCTAATCTAGTATGACAGGTGTTCTTATAAGGGGAGATTAGGACACAGACACACACAAAAGGATGACCCTGTA... |
Task1_train_28606 | An alteration has been detected in PI4KA (phosphatidylinositol 4-kinase alpha) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not specified | CGGCGGGTACATGCTGGAGAAGTAGGAGAGGCCTGTGGGTGGGTCCGTGGGCGCCCAGCACAGCACATGGCTGAGCTCTGGAGCATCGGCGTCGATGGTGTGCCAGGTGACCAGGAACTGCAGAGAAGGTGGGGAGATGCTGTGGCTTGGGCAGTCCCGGGACCTCTGGAAATACCTGGTCCACGGGCCACACAAGGACGGCCATGAGAAGTGATGTTTCTAAGCATCGGTAACCATGGGGAAGATGCTTCTGATGTGTTATGGAAAACAACGTAACTGCAATTAGGGTGAAGTGCATTACATTTTTTTCTACTGTGAAC... | CGGCGGGTACATGCTGGAGAAGTAGGAGAGGCCTGTGGGTGGGTCCGTGGGCGCCCAGCACAGCACATGGCTGAGCTCTGGAGCATCGGCGTCGATGGTGTGCCAGGTGACCAGGAACTGCAGAGAAGGTGGGGAGATGCTGTGGCTTGGGCAGTCCCGGGACCTCTGGAAATACCTGGTCCACGGGCCACACAAGGACGGCCATGAGAAGTGATGTTTCTAAGCATCGGTAACCATGGGGAAGATGCTTCTGATGTGTTATGGAAAACAACGTAACTGCAATTAGGGTGAAGTGCATTACATTTTTTTCTACTGTGAAC... |
Task1_train_28607 | Given this variant in gene PI4KA (phosphatidylinositol 4-kinase alpha) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Spastic paraplegia 84, autosomal recessive | CGGCGGGTACATGCTGGAGAAGTAGGAGAGGCCTGTGGGTGGGTCCGTGGGCGCCCAGCACAGCACATGGCTGAGCTCTGGAGCATCGGCGTCGATGGTGTGCCAGGTGACCAGGAACTGCAGAGAAGGTGGGGAGATGCTGTGGCTTGGGCAGTCCCGGGACCTCTGGAAATACCTGGTCCACGGGCCACACAAGGACGGCCATGAGAAGTGATGTTTCTAAGCATCGGTAACCATGGGGAAGATGCTTCTGATGTGTTATGGAAAACAACGTAACTGCAATTAGGGTGAAGTGCATTACATTTTTTTCTACTGTGAAC... | CGGCGGGTACATGCTGGAGAAGTAGGAGAGGCCTGTGGGTGGGTCCGTGGGCGCCCAGCACAGCACATGGCTGAGCTCTGGAGCATCGGCGTCGATGGTGTGCCAGGTGACCAGGAACTGCAGAGAAGGTGGGGAGATGCTGTGGCTTGGGCAGTCCCGGGACCTCTGGAAATACCTGGTCCACGGGCCACACAAGGACGGCCATGAGAAGTGATGTTTCTAAGCATCGGTAACCATGGGGAAGATGCTTCTGATGTGTTATGGAAAACAACGTAACTGCAATTAGGGTGAAGTGCATTACATTTTTTTCTACTGTGAAC... |
Task1_train_28608 | This sequence change occurs on Chromosome 22, altering PI4KA (phosphatidylinositol 4-kinase alpha). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | ATTCACACACAGTCAAACAACTAAAAATGAAAGATAAGGAGAAACATCCAACAAGTAGTCAAAAGAAAAACAATAACATATACAGTCATCCTTGGTATCCTCAGGAGAACTGGTTCCAGGATGTGGAACCCATGGATATGGAGGGCCGGCTGTACTGAGAAACAAAAAGACTGTTGACTTCTCTCCAGAAACAATGCAAGCTACTAGACAATAGAAGATAATATCTGAAATGCTAAAAACAATAAAACAAAAAACTATCAACCTAGAATCCTGGGCCTAGAAAAAATAATCCATATGCATCAAAGATGAAGGTGAACTAA... | ATTCACACACAGTCAAACAACTAAAAATGAAAGATAAGGAGAAACATCCAACAAGTAGTCAAAAGAAAAACAATAACATATACAGTCATCCTTGGTATCCTCAGGAGAACTGGTTCCAGGATGTGGAACCCATGGATATGGAGGGCCGGCTGTACTGAGAAACAAAAAGACTGTTGACTTCTCTCCAGAAACAATGCAAGCTACTAGACAATAGAAGATAATATCTGAAATGCTAAAAACAATAAAACAAAAAACTATCAACCTAGAATCCTGGGCCTAGAAAAAATAATCCATATGCATCAAAGATGAAGGTGAACTAA... |
Task1_train_28609 | This variant lies on Chromosome 22 and affects the gene PI4KA (phosphatidylinositol 4-kinase alpha). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | TGGCCAGGCTGGTCTCGAACTACTGGCCTCAGGTGATCCACTCGCCTTGGCCTCCTAAAGTGCTGGGGTTACAGGTGTGAGCCACCACATCCAGCCAAAATAAAAGACACTTACAATGAAAAAAGAACAAAGTCAACACTCCCTTGGCTCTGTGGGACTTGGGGAGAATGCGTCACTGATTTCCACATTTGGCTGTGTGTGGAGCCCCGGGCTGAGGGCAGGGAGGAGGAGACTGAGCAGGAGGGTAGGGTGCATTCCCATGCAACCAAAGCACTCTGCCTTTCTTTTATGTATTGAGCTTTCAAGGACTATTTTACTAG... | TGGCCAGGCTGGTCTCGAACTACTGGCCTCAGGTGATCCACTCGCCTTGGCCTCCTAAAGTGCTGGGGTTACAGGTGTGAGCCACCACATCCAGCCAAAATAAAAGACACTTACAATGAAAAAAGAACAAAGTCAACACTCCCTTGGCTCTGTGGGACTTGGGGAGAATGCGTCACTGATTTCCACATTTGGCTGTGTGTGGAGCCCCGGGCTGAGGGCAGGGAGGAGGAGACTGAGCAGGAGGGTAGGGTGCATTCCCATGCAACCAAAGCACTCTGCCTTTCTTTTATGTATTGAGCTTTCAAGGACTATTTTACTAG... |
Task1_train_28610 | This is a variant in PI4KA, SERPIND1 (phosphatidylinositol 4-kinase alpha| serpin family D member 1), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Heparin cofactor II deficiency | AAACATATGCAACCAAACTGAGAAAAGTAGGCTCTCAGAGGAAGGTATTTGCCCGGGTAGCCAGTCATCATGCTCTGTGAATTTTTCCTTAACAACGTCCCTTCTGTACCTGCCTCCTTCCATTCCTCCCTGCAGCCCGGCAGCTCTTGAGAAAGGGACTGCATCTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCATCATCATGGCTCACTGCAGCCTCAACCTCCTGAACTTAAGTGATCCTCTCACCTCAGCCTCCTGAATAGTTGAGACTACAGGCGTGCACCT... | AAACATATGCAACCAAACTGAGAAAAGTAGGCTCTCAGAGGAAGGTATTTGCCCGGGTAGCCAGTCATCATGCTCTGTGAATTTTTCCTTAACAACGTCCCTTCTGTACCTGCCTCCTTCCATTCCTCCCTGCAGCCCGGCAGCTCTTGAGAAAGGGACTGCATCTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCATCATCATGGCTCACTGCAGCCTCAACCTCCTGAACTTAAGTGATCCTCTCACCTCAGCCTCCTGAATAGTTGAGACTACAGGCGTGCACCT... |
Task1_train_28611 | The following genetic variant occurs in SNAP29 (synaptosome associated protein 29) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; CEDNIK syndrome | TAGTCAGACTATCTAATGATAACAGTGCTCATACATTAGGTACCCACGTGCCTTTTTGTTGCTCTTCACAATACTCCTATGAAGTACTACCTTGTATTTGACAGAAGATAGCAAAGTATCAGAGAAGGGAACTGACCTGTCTAGAGTCACACTAGTGAAAGCAAGTGATACAGGATTTAAATTCAGAGGTTCCATTTTCCAAACTCATGTCCTTTCCATTGCATTGTACTCCCTCTTTAGCTAGAAGTCAGGTTAGCACCAATCTGCCGGGACCTTCTCACCCCGAAGGTGCATGATAAAATCAAATATGAGAACCGACA... | TAGTCAGACTATCTAATGATAACAGTGCTCATACATTAGGTACCCACGTGCCTTTTTGTTGCTCTTCACAATACTCCTATGAAGTACTACCTTGTATTTGACAGAAGATAGCAAAGTATCAGAGAAGGGAACTGACCTGTCTAGAGTCACACTAGTGAAAGCAAGTGATACAGGATTTAAATTCAGAGGTTCCATTTTCCAAACTCATGTCCTTTCCATTGCATTGTACTCCCTCTTTAGCTAGAAGTCAGGTTAGCACCAATCTGCCGGGACCTTCTCACCCCGAAGGTGCATGATAAAATCAAATATGAGAACCGACA... |
Task1_train_28612 | The following genetic variant occurs in LZTR1 (leucine zipper like post translational regulator 1) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | TAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTA... | TAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTA... |
Task1_train_28613 | Gene LZTR1 (leucine zipper like post translational regulator 1), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; LZTR1-related schwannomatosis | GTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCC... | GTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCC... |
Task1_train_28614 | A variant affecting Chromosome 22, within the gene LZTR1 (leucine zipper like post translational regulator 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Noonan syndrome 10 | CCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTG... | CCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTG... |
Task1_train_28615 | Given this variant in gene LZTR1 (leucine zipper like post translational regulator 1) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Noonan syndrome 10 | CACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGC... | CACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGC... |
Task1_train_28616 | This is a variant in LZTR1 (leucine zipper like post translational regulator 1), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Cardiovascular phenotype | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... |
Task1_train_28617 | Gene LZTR1 (leucine zipper like post translational regulator 1) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... |
Task1_train_28618 | Here’s a variant in LZTR1 (leucine zipper like post translational regulator 1) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; LZTR1-related schwannomatosis | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... |
Task1_train_28619 | Given this variant in gene LZTR1 (leucine zipper like post translational regulator 1) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Noonan syndrome 10 | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... |
Task1_train_28620 | An alteration has been detected in LZTR1 (leucine zipper like post translational regulator 1) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Noonan syndrome 2 | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... |
Task1_train_28621 | Here’s a variant in LZTR1 (leucine zipper like post translational regulator 1) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; LZTR1-related schwannomatosis | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... |
Task1_train_28622 | Here is a mutation in LZTR1 (leucine zipper like post translational regulator 1) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Noonan syndrome 10 | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... |
Task1_train_28623 | This sequence variant lies in LZTR1 (leucine zipper like post translational regulator 1) on Chromosome 22. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Noonan syndrome 10 | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATG... |
Task1_train_28624 | The gene MAPK1 (mitogen-activated protein kinase 1) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Abnormal facial shape | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCT... | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCT... |
Task1_train_28625 | This mutation occurs in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Intellectual disability | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCT... | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCT... |
Task1_train_28626 | This mutation is located in gene MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Specific learning disability | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCT... | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCT... |
Task1_train_28627 | A variant affecting Chromosome 22, within the gene MAPK1 (mitogen-activated protein kinase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Heart, malformation of | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCT... | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCT... |
Task1_train_28628 | An alteration has been detected in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Short stature | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCT... | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCT... |
Task1_train_28629 | This variant affects the gene MAPK1 (mitogen-activated protein kinase 1) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Atypical behavior | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCT... | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCT... |
Task1_train_28630 | Here’s a variant in MAPK1 (mitogen-activated protein kinase 1) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Abnormal facial shape | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTG... | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTG... |
Task1_train_28631 | The variant affects gene MAPK1 (mitogen-activated protein kinase 1), which is on Chromosome 22. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Microcephaly | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTG... | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTG... |
Task1_train_28632 | A variant was discovered in gene MAPK1 (mitogen-activated protein kinase 1), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Intellectual disability | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTG... | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTG... |
Task1_train_28633 | The gene MAPK1 (mitogen-activated protein kinase 1) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Specific learning disability | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTG... | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTG... |
Task1_train_28634 | This sequence variant lies in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Short stature | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTG... | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTG... |
Task1_train_28635 | This variant lies on Chromosome 22 and affects the gene MAPK1 (mitogen-activated protein kinase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Atypical behavior | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTG... | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTG... |
Task1_train_28636 | A variant was discovered on Chromosome 22, affecting MAPK1 (mitogen-activated protein kinase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Abnormal facial shape | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGA... | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGA... |
Task1_train_28637 | Chromosome 22 houses a mutation in gene MAPK1 (mitogen-activated protein kinase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Intellectual disability | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGA... | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGA... |
Task1_train_28638 | This mutation is located in gene MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Specific learning disability | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGA... | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGA... |
Task1_train_28639 | A variant was discovered on Chromosome 22, affecting MAPK1 (mitogen-activated protein kinase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Heart, malformation of | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGA... | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGA... |
Task1_train_28640 | This variant impacts the gene MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Is the change likely to result in a pathogenic outcome? | Pathogenic; Atypical behavior | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGA... | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGA... |
Task1_train_28641 | A genomic change on Chromosome 22 affects MAPK1 (mitogen-activated protein kinase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Abnormal facial shape | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGAT... | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGAT... |
Task1_train_28642 | A variant was discovered on Chromosome 22, affecting MAPK1 (mitogen-activated protein kinase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGAT... | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGAT... |
Task1_train_28643 | A variant has been detected on Chromosome 22 in MAPK1 (mitogen-activated protein kinase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Specific learning disability | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGAT... | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGAT... |
Task1_train_28644 | An alteration has been detected in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Heart, malformation of | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGAT... | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGAT... |
Task1_train_28645 | A mutation in MAPK1 (mitogen-activated protein kinase 1), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Atypical behavior | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGAT... | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGAT... |
Task1_train_28646 | A variant has been detected on Chromosome 22 in MAPK1 (mitogen-activated protein kinase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Abnormal facial shape | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAAT... | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAAT... |
Task1_train_28647 | This genomic variant is located on Chromosome 22, within the MAPK1 (mitogen-activated protein kinase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Macrocephaly | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAAT... | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAAT... |
Task1_train_28648 | A variant has been detected on Chromosome 22 in MAPK1 (mitogen-activated protein kinase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Specific learning disability | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAAT... | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAAT... |
Task1_train_28649 | Here is a genetic alteration in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Heart, malformation of | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAAT... | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAAT... |
Task1_train_28650 | Here’s a variant in MAPK1 (mitogen-activated protein kinase 1) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Atypical behavior | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAAT... | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAAT... |
Task1_train_28651 | The gene MAPK1 (mitogen-activated protein kinase 1), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Inborn genetic diseases | GCTGGGACCACAGGCACATGCCACCACGCCCAGATTAATTTTTTTGTATTTTCGGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGCTCCGGAGCTCAGGCAATCCACAGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGCGAACCACTGCACCCAGCCATTTTGAGTTAATTTTTTCATCTTTTTGTATGTGGCTATTCAGTTGTCCCAGATTCATTTGCTGAAAAGACTATTCTTTCCCCAGTGAATGGTCCTGGCATCCTTGCCAAAAATCAGTTGACCATAGATACACGGGTTTATTTACTGAC... | GCTGGGACCACAGGCACATGCCACCACGCCCAGATTAATTTTTTTGTATTTTCGGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGCTCCGGAGCTCAGGCAATCCACAGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGCGAACCACTGCACCCAGCCATTTTGAGTTAATTTTTTCATCTTTTTGTATGTGGCTATTCAGTTGTCCCAGATTCATTTGCTGAAAAGACTATTCTTTCCCCAGTGAATGGTCCTGGCATCCTTGCCAAAAATCAGTTGACCATAGATACACGGGTTTATTTACTGAC... |
Task1_train_28652 | A variant was discovered in gene MAPK1 (mitogen-activated protein kinase 1), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Abnormal facial shape | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAG... | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAG... |
Task1_train_28653 | This mutation occurs in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Microcephaly | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAG... | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAG... |
Task1_train_28654 | Gene MAPK1 (mitogen-activated protein kinase 1), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Intellectual disability | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAG... | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAG... |
Task1_train_28655 | The gene MAPK1 (mitogen-activated protein kinase 1), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Specific learning disability | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAG... | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAG... |
Task1_train_28656 | This genomic variant is located on Chromosome 22, within the MAPK1 (mitogen-activated protein kinase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Short stature | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAG... | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAG... |
Task1_train_28657 | Given this context: Chromosome 22, gene MAPK1 (mitogen-activated protein kinase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Atypical behavior | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAG... | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAG... |
Task1_train_28658 | This alteration occurs within gene MAPK1 (mitogen-activated protein kinase 1) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Abnormal facial shape | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTT... | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTT... |
Task1_train_28659 | This variant lies on Chromosome 22 and affects the gene MAPK1 (mitogen-activated protein kinase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Microcephaly | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTT... | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTT... |
Task1_train_28660 | Consider this mutation in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual disability | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTT... | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTT... |
Task1_train_28661 | Here is a genetic alteration in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Specific learning disability | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTT... | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTT... |
Task1_train_28662 | This genomic variant is located on Chromosome 22, within the MAPK1 (mitogen-activated protein kinase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Short stature | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTT... | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTT... |
Task1_train_28663 | This variant lies on Chromosome 22 and affects the gene MAPK1 (mitogen-activated protein kinase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Atypical behavior | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTT... | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTT... |
Task1_train_28664 | Mutation context: Chromosome 22, Gene CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | ACAACCCAGCAGGACTCCTCTTGCAGAATCTGGAATTGCTGAGAAGTTGCATCAGCAAGAGGGGCAAGGTCAGACAGGATTTGAGGCCGCCAGGGGCACCTAAGCTGTGGGTGCAGAGAATGGGATGCAGAGGTAGAGACAAGAAGGGTAGAGGTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCC... | ACAACCCAGCAGGACTCCTCTTGCAGAATCTGGAATTGCTGAGAAGTTGCATCAGCAAGAGGGGCAAGGTCAGACAGGATTTGAGGCCGCCAGGGGCACCTAAGCTGTGGGTGCAGAGAATGGGATGCAGAGGTAGAGACAAGAAGGGTAGAGGTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCC... |
Task1_train_28665 | Located on Chromosome 22, this mutation impacts CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal dominant mitochondrial myopathy with exercise intolerance | GAATCTGGAATTGCTGAGAAGTTGCATCAGCAAGAGGGGCAAGGTCAGACAGGATTTGAGGCCGCCAGGGGCACCTAAGCTGTGGGTGCAGAGAATGGGATGCAGAGGTAGAGACAAGAAGGGTAGAGGTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGG... | GAATCTGGAATTGCTGAGAAGTTGCATCAGCAAGAGGGGCAAGGTCAGACAGGATTTGAGGCCGCCAGGGGCACCTAAGCTGTGGGTGCAGAGAATGGGATGCAGAGGTAGAGACAAGAAGGGTAGAGGTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGG... |
Task1_train_28666 | This is a variant in CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Autosomal dominant mitochondrial myopathy with exercise intolerance | GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCAC... | GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCAC... |
Task1_train_28667 | This is a variant in CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Lower motor neuron syndrome with late-adult onset | GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCAC... | GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCAC... |
Task1_train_28668 | This gene mutation involves CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10) on Chromosome 22. Is it associated with any clinical condition, or is it benign? | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCAC... | GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCAC... |
Task1_train_28669 | This is a variant in CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCAC... | GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCAC... |
Task1_train_28670 | Chromosome 22 houses a mutation in gene SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | AAAAAATTAGCCAGGCATGGTGGCACGCTCCTGTAATCCCAGCTACTTGGGAGGCCTAGGAAGGAGAATCGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGT... | AAAAAATTAGCCAGGCATGGTGGCACGCTCCTGTAATCCCAGCTACTTGGGAGGCCTAGGAAGGAGAATCGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGT... |
Task1_train_28671 | This alteration in SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Teebi hypertelorism syndrome 1 | TTAGCCAGGCATGGTGGCACGCTCCTGTAATCCCAGCTACTTGGGAGGCCTAGGAAGGAGAATCGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTT... | TTAGCCAGGCATGGTGGCACGCTCCTGTAATCCCAGCTACTTGGGAGGCCTAGGAAGGAGAATCGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTT... |
Task1_train_28672 | Gene SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Oculomaxillofacial dysostosis | CTAGGAAGGAGAATCGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGG... | CTAGGAAGGAGAATCGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGG... |
Task1_train_28673 | Assess the clinical impact of this variant on gene SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)), found on Chromosome 22. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Teebi hypertelorism syndrome 1 | CGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTG... | CGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTG... |
Task1_train_28674 | Here’s a variant in SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Teebi hypertelorism syndrome | CGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTG... | CGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTG... |
Task1_train_28675 | The gene SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Teebi hypertelorism syndrome | CTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTGGG... | CTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTGGG... |
Task1_train_28676 | Chromosome 22 houses a mutation in gene SPECC1L-ADORA2A, SPECC1L (SPECC1L-ADORA2A readthrough (NMD candidate)| sperm antigen with calponin homology and coiled-coil domains 1 like). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; SPECC1L-related syndrome | AGCATAGGTTTGTTGTGGCACCAGGTAGAGGTGAGTGTCGTCCTTCAGATGCATCTGTCCCAGGCAGTTGTGGAGGCCACGTGACTTTCTCTGTGCCTTGTTCATGCACTGCAGTGACACAGTTTCTTTTACAGAGAAGGAACTTCATGCTGGCTTTCCAGGCAGCTGAAAGTGTCGGCATCAAATCCACACTGGTGAGCCCTTGTCCCCCTGAGTCACTGGCAGGGCCCTCCTTCTGGTTAAGAAGAGTTCAGTCCTGTTTAAGCTGAATCCTCGTGGGCATGGGGTAGTGTGGCTGCCTGGTAAAAGGCAGCTATGGG... | AGCATAGGTTTGTTGTGGCACCAGGTAGAGGTGAGTGTCGTCCTTCAGATGCATCTGTCCCAGGCAGTTGTGGAGGCCACGTGACTTTCTCTGTGCCTTGTTCATGCACTGCAGTGACACAGTTTCTTTTACAGAGAAGGAACTTCATGCTGGCTTTCCAGGCAGCTGAAAGTGTCGGCATCAAATCCACACTGGTGAGCCCTTGTCCCCCTGAGTCACTGGCAGGGCCCTCCTTCTGGTTAAGAAGAGTTCAGTCCTGTTTAAGCTGAATCCTCGTGGGCATGGGGTAGTGTGGCTGCCTGGTAAAAGGCAGCTATGGG... |
Task1_train_28677 | A mutation found in UPB1 (beta-ureidopropionase 1) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Deficiency of beta-ureidopropionase | GAACCAGTCTGTGCCCAGTTTCTTTCTCTTCTCTCAGATTATGAACTCCCCAAAGGCACCATCCAGGTTTTTACCCCGCTTGTCAAATTCCCCTCTGGCCCAGGGCTGGCTGCTCAGCAGGAGTGTTTAATAAGCACTTAATTGCCCGGTGAGTACAGACCATTCCAGCTCACCTTAACTGTTTCCTGGCTGACTCGCCTCTCGGCCTGATTGCCCTGCTCATCTGGCTGAGTGAGCTGGAATGAGTGTAGTGGTAGTGCCACCTATAGGTTCCTCTTACCTTGGTCTTATTTCACAGGAGCACTTCCCGAACGAGTTTA... | GAACCAGTCTGTGCCCAGTTTCTTTCTCTTCTCTCAGATTATGAACTCCCCAAAGGCACCATCCAGGTTTTTACCCCGCTTGTCAAATTCCCCTCTGGCCCAGGGCTGGCTGCTCAGCAGGAGTGTTTAATAAGCACTTAATTGCCCGGTGAGTACAGACCATTCCAGCTCACCTTAACTGTTTCCTGGCTGACTCGCCTCTCGGCCTGATTGCCCTGCTCATCTGGCTGAGTGAGCTGGAATGAGTGTAGTGGTAGTGCCACCTATAGGTTCCTCTTACCTTGGTCTTATTTCACAGGAGCACTTCCCGAACGAGTTTA... |
Task1_train_28678 | This variant impacts the gene CRYBB3 (crystallin beta B3) on Chromosome 22. Is the change likely to result in a pathogenic outcome? | Pathogenic; Microphthalmia | CACACCAGGCCTCTGTTTTCTCATCTGTTGAATGGGGATAACAATGGTACGTACTTCAGAGAGAGTTTTTATGAAAATGAATGGAATGATGCAAATAAATACATATTAATAACAATACAATACAAAGAAGAGGAAAAGGAAGAGGAAGAAGTCACTGTCACCTATGGAATACTTACTGTGTACCGGGCATTGTGCTAAAGACTTTTCTGGGTACCTTGCACAGAGGCTAGATTCTCAATAACATACCCTAGGATGGTTTTCTGGCCCAGAGTCTCAGACAGTTCCCGGTATGTCCTAGCAGCTCCTTTAATTACAGGTCC... | CACACCAGGCCTCTGTTTTCTCATCTGTTGAATGGGGATAACAATGGTACGTACTTCAGAGAGAGTTTTTATGAAAATGAATGGAATGATGCAAATAAATACATATTAATAACAATACAATACAAAGAAGAGGAAAAGGAAGAGGAAGAAGTCACTGTCACCTATGGAATACTTACTGTGTACCGGGCATTGTGCTAAAGACTTTTCTGGGTACCTTGCACAGAGGCTAGATTCTCAATAACATACCCTAGGATGGTTTTCTGGCCCAGAGTCTCAGACAGTTCCCGGTATGTCCTAGCAGCTCCTTTAATTACAGGTCC... |
Task1_train_28679 | This variant lies on Chromosome 22 and affects the gene CRYBB3 (crystallin beta B3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cataract | CACACCAGGCCTCTGTTTTCTCATCTGTTGAATGGGGATAACAATGGTACGTACTTCAGAGAGAGTTTTTATGAAAATGAATGGAATGATGCAAATAAATACATATTAATAACAATACAATACAAAGAAGAGGAAAAGGAAGAGGAAGAAGTCACTGTCACCTATGGAATACTTACTGTGTACCGGGCATTGTGCTAAAGACTTTTCTGGGTACCTTGCACAGAGGCTAGATTCTCAATAACATACCCTAGGATGGTTTTCTGGCCCAGAGTCTCAGACAGTTCCCGGTATGTCCTAGCAGCTCCTTTAATTACAGGTCC... | CACACCAGGCCTCTGTTTTCTCATCTGTTGAATGGGGATAACAATGGTACGTACTTCAGAGAGAGTTTTTATGAAAATGAATGGAATGATGCAAATAAATACATATTAATAACAATACAATACAAAGAAGAGGAAAAGGAAGAGGAAGAAGTCACTGTCACCTATGGAATACTTACTGTGTACCGGGCATTGTGCTAAAGACTTTTCTGGGTACCTTGCACAGAGGCTAGATTCTCAATAACATACCCTAGGATGGTTTTCTGGCCCAGAGTCTCAGACAGTTCCCGGTATGTCCTAGCAGCTCCTTTAATTACAGGTCC... |
Task1_train_28680 | This variant impacts the gene CRYBB3 (crystallin beta B3) on Chromosome 22. Is the change likely to result in a pathogenic outcome? | Pathogenic; Developmental cataract | CAGCTTTGGAGGAATCTCCCCGTCCCTCCTACAGTGAATTTGGGGGTGGAGGCATCTCCTGAGGCCCTTCCCTCCTGCAGCAGGTTTGGGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGA... | CAGCTTTGGAGGAATCTCCCCGTCCCTCCTACAGTGAATTTGGGGGTGGAGGCATCTCCTGAGGCCCTTCCCTCCTGCAGCAGGTTTGGGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGA... |
Task1_train_28681 | A mutation on Chromosome 22 affecting CRYBB3 (crystallin beta B3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cataract 22 multiple types | CAGCTTTGGAGGAATCTCCCCGTCCCTCCTACAGTGAATTTGGGGGTGGAGGCATCTCCTGAGGCCCTTCCCTCCTGCAGCAGGTTTGGGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGA... | CAGCTTTGGAGGAATCTCCCCGTCCCTCCTACAGTGAATTTGGGGGTGGAGGCATCTCCTGAGGCCCTTCCCTCCTGCAGCAGGTTTGGGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGA... |
Task1_train_28682 | Mutation context: Chromosome 22, Gene CRYBB3 (crystallin beta B3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cataract 22 multiple types | GGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGAGTGTCCGTGCCATCAACGGGACGTAAGGGACCCAACCCTCACCCTTGCCCCATCTTCTGGTCAGCCATGCCTCTGGCTCCAAACAGAA... | GGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGAGTGTCCGTGCCATCAACGGGACGTAAGGGACCCAACCCTCACCCTTGCCCCATCTTCTGGTCAGCCATGCCTCTGGCTCCAAACAGAA... |
Task1_train_28683 | A variant was discovered in gene CRYBB2 (crystallin beta B2), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cataract 3 multiple types | CACGTAAGTGCGTTGCCAGCCCTGGCTCACCCTGCCCCAGGAACTGAGACTCTGGGGTCCTAAGTCCTGCTCTGCCCTGTACACGCTGGTGATCTTGCACACATCAGTGTGCTCTGCTGACCTCTGGCTTCCCACTGGAAAGTAAATGGGAATTCTCTGCCCATAGGTGGCTTACAGCCGCTGAATTTCTTTCTAGAGCTGCCTTTGGGGAAATGGTATGCCTTTGGAGTGGAGAAACCTTGGCCTTAACCTCAGCCCCAGTGAGCAAGACATGTATGTCAGAGGGGCAAGTTGAGGCAGAGGGAGGATTAGGTTGAGGC... | CACGTAAGTGCGTTGCCAGCCCTGGCTCACCCTGCCCCAGGAACTGAGACTCTGGGGTCCTAAGTCCTGCTCTGCCCTGTACACGCTGGTGATCTTGCACACATCAGTGTGCTCTGCTGACCTCTGGCTTCCCACTGGAAAGTAAATGGGAATTCTCTGCCCATAGGTGGCTTACAGCCGCTGAATTTCTTTCTAGAGCTGCCTTTGGGGAAATGGTATGCCTTTGGAGTGGAGAAACCTTGGCCTTAACCTCAGCCCCAGTGAGCAAGACATGTATGTCAGAGGGGCAAGTTGAGGCAGAGGGAGGATTAGGTTGAGGC... |
Task1_train_28684 | Consider this mutation in CRYBB2 (crystallin beta B2) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Developmental cataract | CTTGCACACATCAGTGTGCTCTGCTGACCTCTGGCTTCCCACTGGAAAGTAAATGGGAATTCTCTGCCCATAGGTGGCTTACAGCCGCTGAATTTCTTTCTAGAGCTGCCTTTGGGGAAATGGTATGCCTTTGGAGTGGAGAAACCTTGGCCTTAACCTCAGCCCCAGTGAGCAAGACATGTATGTCAGAGGGGCAAGTTGAGGCAGAGGGAGGATTAGGTTGAGGCAGGAGGGAAGGAATGAGTTGAGTAGTCTGAAAGCTATGAGAAGCAGGAGGACCAGCCCATGCTGCCTTTGACCGCGTGTGTCCCTAAGTTTGG... | CTTGCACACATCAGTGTGCTCTGCTGACCTCTGGCTTCCCACTGGAAAGTAAATGGGAATTCTCTGCCCATAGGTGGCTTACAGCCGCTGAATTTCTTTCTAGAGCTGCCTTTGGGGAAATGGTATGCCTTTGGAGTGGAGAAACCTTGGCCTTAACCTCAGCCCCAGTGAGCAAGACATGTATGTCAGAGGGGCAAGTTGAGGCAGAGGGAGGATTAGGTTGAGGCAGGAGGGAAGGAATGAGTTGAGTAGTCTGAAAGCTATGAGAAGCAGGAGGACCAGCCCATGCTGCCTTTGACCGCGTGTGTCCCTAAGTTTGG... |
Task1_train_28685 | Consider this mutation in CRYBA4, CRYBB1 (crystallin beta A4| crystallin beta B1) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Cataract 17 multiple types | CAGGGCAGAGAGAGGAAGGGTTAGACCAAGCTTATTTAACCTGCGGCCTGCAGGCCACATGTGGCTCAGGATGGCTTTGAATGTGGCCCAACACAAATTTGTGAACTTTCTTAAAACATTATGAGATTTTTTTTGCAATTGTTTTAAAGCTCATCCGCTATCGTTAGTGATAGTGTATTTTATGTGTAGCCCAAGACAATTCTTCCAGCGTGGGCCAGGGAAGCCAAAATATTGGGCACCCCTGAATTAGATGGTTGGATCTCAGCCCTGGCTGCACAGACGGACTACTTAGAGGGCATAGAAAAGATAGCAGTGCCGGA... | CAGGGCAGAGAGAGGAAGGGTTAGACCAAGCTTATTTAACCTGCGGCCTGCAGGCCACATGTGGCTCAGGATGGCTTTGAATGTGGCCCAACACAAATTTGTGAACTTTCTTAAAACATTATGAGATTTTTTTTGCAATTGTTTTAAAGCTCATCCGCTATCGTTAGTGATAGTGTATTTTATGTGTAGCCCAAGACAATTCTTCCAGCGTGGGCCAGGGAAGCCAAAATATTGGGCACCCCTGAATTAGATGGTTGGATCTCAGCCCTGGCTGCACAGACGGACTACTTAGAGGGCATAGAAAAGATAGCAGTGCCGGA... |
Task1_train_28686 | The gene CRYBA4 (crystallin beta A4), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cataract 23 | TGTGCCCTCCTGAAGTACTGAGGAGTGTGCAGGACTGCCATGTAAGATTATGCAGGTTGCGCACTGCCCAACAGTAGGAGGGTGCCATTTACACAGACCCTGCCCACTGGATGAGGCAGTTCTGCAGGAGATCCTTAGAATCCAGTGTTGGATCTAAAAATGTCCCTCCCAGCCGTAAATTGAAAGCCAACATCACCCGCCTAAAGTAGAAGGTAACTGTAAAAATAAACATAATGTTTTAATGCTATTAATTTTTAGCTAAATAGTCTTGCTGCTAAGCATGTGGCCTGATCATTTTTTGTAAAAAAAAAAAAAATTAA... | TGTGCCCTCCTGAAGTACTGAGGAGTGTGCAGGACTGCCATGTAAGATTATGCAGGTTGCGCACTGCCCAACAGTAGGAGGGTGCCATTTACACAGACCCTGCCCACTGGATGAGGCAGTTCTGCAGGAGATCCTTAGAATCCAGTGTTGGATCTAAAAATGTCCCTCCCAGCCGTAAATTGAAAGCCAACATCACCCGCCTAAAGTAGAAGGTAACTGTAAAAATAAACATAATGTTTTAATGCTATTAATTTTTAGCTAAATAGTCTTGCTGCTAAGCATGTGGCCTGATCATTTTTTGTAAAAAAAAAAAAAATTAA... |
Task1_train_28687 | Consider this mutation in CRYBA4 (crystallin beta A4) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Cataract 23 | ACTGAGGAGTGTGCAGGACTGCCATGTAAGATTATGCAGGTTGCGCACTGCCCAACAGTAGGAGGGTGCCATTTACACAGACCCTGCCCACTGGATGAGGCAGTTCTGCAGGAGATCCTTAGAATCCAGTGTTGGATCTAAAAATGTCCCTCCCAGCCGTAAATTGAAAGCCAACATCACCCGCCTAAAGTAGAAGGTAACTGTAAAAATAAACATAATGTTTTAATGCTATTAATTTTTAGCTAAATAGTCTTGCTGCTAAGCATGTGGCCTGATCATTTTTTGTAAAAAAAAAAAAAATTAAAAAACAAAAAAGAGAG... | ACTGAGGAGTGTGCAGGACTGCCATGTAAGATTATGCAGGTTGCGCACTGCCCAACAGTAGGAGGGTGCCATTTACACAGACCCTGCCCACTGGATGAGGCAGTTCTGCAGGAGATCCTTAGAATCCAGTGTTGGATCTAAAAATGTCCCTCCCAGCCGTAAATTGAAAGCCAACATCACCCGCCTAAAGTAGAAGGTAACTGTAAAAATAAACATAATGTTTTAATGCTATTAATTTTTAGCTAAATAGTCTTGCTGCTAAGCATGTGGCCTGATCATTTTTTGTAAAAAAAAAAAAAATTAAAAAACAAAAAAGAGAG... |
Task1_train_28688 | This sequence variant lies in CRYBA4 (crystallin beta A4) on Chromosome 22. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cataract 23 | CACAGACCCTGCCCACTGGATGAGGCAGTTCTGCAGGAGATCCTTAGAATCCAGTGTTGGATCTAAAAATGTCCCTCCCAGCCGTAAATTGAAAGCCAACATCACCCGCCTAAAGTAGAAGGTAACTGTAAAAATAAACATAATGTTTTAATGCTATTAATTTTTAGCTAAATAGTCTTGCTGCTAAGCATGTGGCCTGATCATTTTTTGTAAAAAAAAAAAAAATTAAAAAACAAAAAAGAGAGTGAGAGAGAGAGATTAGTGAGACACAGAGAGGTGTTAAGGACACACTAATAACACACCAAGACTTTCTAGACCAG... | CACAGACCCTGCCCACTGGATGAGGCAGTTCTGCAGGAGATCCTTAGAATCCAGTGTTGGATCTAAAAATGTCCCTCCCAGCCGTAAATTGAAAGCCAACATCACCCGCCTAAAGTAGAAGGTAACTGTAAAAATAAACATAATGTTTTAATGCTATTAATTTTTAGCTAAATAGTCTTGCTGCTAAGCATGTGGCCTGATCATTTTTTGTAAAAAAAAAAAAAATTAAAAAACAAAAAAGAGAGTGAGAGAGAGAGATTAGTGAGACACAGAGAGGTGTTAAGGACACACTAATAACACACCAAGACTTTCTAGACCAG... |
Task1_train_28689 | A mutation found in CHEK2 (checkpoint kinase 2) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Bone osteosarcoma | GGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGATTGCAGACATGCGCCA... | GGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGATTGCAGACATGCGCCA... |
Task1_train_28690 | Consider a variant on Chromosome 22 in gene KREMEN1 (kringle containing transmembrane protein 1). Determine its clinical classification and disease relevance. | Pathogenic; Ectodermal dysplasia 13, hair/tooth type | AAACAACTCAATAGTTAAAAAAACTGAACAAAGCAATTTAAAAATGGGCAAAAGACCTGAACAGAAGATATACAGATGGCAAATAAGCATATGAAAAGAAGCCAAAGAAGATATACAGATGACAAATAAGCACATGAAAAGATAGTCATCTGGGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCACACCTGTAGTCCCAGTTACTC... | AAACAACTCAATAGTTAAAAAAACTGAACAAAGCAATTTAAAAATGGGCAAAAGACCTGAACAGAAGATATACAGATGGCAAATAAGCATATGAAAAGAAGCCAAAGAAGATATACAGATGACAAATAAGCACATGAAAAGATAGTCATCTGGGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCACACCTGTAGTCCCAGTTACTC... |
Task1_train_28691 | A variant has been detected on Chromosome 22 in AP1B1 (adaptor related protein complex 1 subunit beta 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal recessive keratitis-ichthyosis-deafness syndrome | AAGCCGGTAGCATGCCCCCCTCAGCTGTGAAAACCAAAGTATCTCCAGACACCACCAAATATCCCTCAGGGGGGCAAAGCTGCCACTTTGGTTAAGCTATTCTGGGTTAAGCTATTTGAGACTTCCTGCATGGTGACAGGTCAGTTTCCTTTGAGAGCCCCCATTCCCAGCAGAAGAGGCTCCCCGAGGGGTACGCATGGACGTGCGTGTGGTGACCTCAGTACCTTTTCTGCACGATGAGATTGATGTTGCGCAGGGCCACATACTGCAGCTCTGGCTCGGCTGACAGCAGTGTGACCAGGGGTGGGGCCAGCTTCTTG... | AAGCCGGTAGCATGCCCCCCTCAGCTGTGAAAACCAAAGTATCTCCAGACACCACCAAATATCCCTCAGGGGGGCAAAGCTGCCACTTTGGTTAAGCTATTCTGGGTTAAGCTATTTGAGACTTCCTGCATGGTGACAGGTCAGTTTCCTTTGAGAGCCCCCATTCCCAGCAGAAGAGGCTCCCCGAGGGGTACGCATGGACGTGCGTGTGGTGACCTCAGTACCTTTTCTGCACGATGAGATTGATGTTGCGCAGGGCCACATACTGCAGCTCTGGCTCGGCTGACAGCAGTGTGACCAGGGGTGGGGCCAGCTTCTTG... |
Task1_train_28692 | A mutation found in AP1B1 (adaptor related protein complex 1 subunit beta 1) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive keratitis-ichthyosis-deafness syndrome | CTCACCCTGCTGACTCCTCTGCAAACTGGAACAAAACAAGTGTGCCTGCCATTTAGAAAAACAAGAAAGACCTAGCTCCAAGGGCTTAGCCACAGAAAGCATTCTCAGCTTCCTAACACAGCAGCGCCTGTCTACCAGCAACAGCACCTCACTTCAATGCTTGTCAGCTGTGCTTCTCAGAGCTAGGGGATTCCTGCAGAGCTCCTCGAGGCTACTGGGAGTGGATGGGGGCTTGCCAGGTGAAGCTCCAGGCCCTCAATCCATTTCCACTAGGAAGGTGTTTTTTTTTGTTTTTTGTTTTTTTTTTTTGAGATGGAGTT... | CTCACCCTGCTGACTCCTCTGCAAACTGGAACAAAACAAGTGTGCCTGCCATTTAGAAAAACAAGAAAGACCTAGCTCCAAGGGCTTAGCCACAGAAAGCATTCTCAGCTTCCTAACACAGCAGCGCCTGTCTACCAGCAACAGCACCTCACTTCAATGCTTGTCAGCTGTGCTTCTCAGAGCTAGGGGATTCCTGCAGAGCTCCTCGAGGCTACTGGGAGTGGATGGGGGCTTGCCAGGTGAAGCTCCAGGCCCTCAATCCATTTCCACTAGGAAGGTGTTTTTTTTTGTTTTTTGTTTTTTTTTTTTGAGATGGAGTT... |
Task1_train_28693 | Given this variant in gene AP1B1 (adaptor related protein complex 1 subunit beta 1) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive keratitis-ichthyosis-deafness syndrome | CTTCCTAACACAGCAGCGCCTGTCTACCAGCAACAGCACCTCACTTCAATGCTTGTCAGCTGTGCTTCTCAGAGCTAGGGGATTCCTGCAGAGCTCCTCGAGGCTACTGGGAGTGGATGGGGGCTTGCCAGGTGAAGCTCCAGGCCCTCAATCCATTTCCACTAGGAAGGTGTTTTTTTTTGTTTTTTGTTTTTTTTTTTTGAGATGGAGTTGTGCTCTGTCGCCCAGGTTGCAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCTTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGA... | CTTCCTAACACAGCAGCGCCTGTCTACCAGCAACAGCACCTCACTTCAATGCTTGTCAGCTGTGCTTCTCAGAGCTAGGGGATTCCTGCAGAGCTCCTCGAGGCTACTGGGAGTGGATGGGGGCTTGCCAGGTGAAGCTCCAGGCCCTCAATCCATTTCCACTAGGAAGGTGTTTTTTTTTGTTTTTTGTTTTTTTTTTTTGAGATGGAGTTGTGCTCTGTCGCCCAGGTTGCAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCTTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGA... |
Task1_train_28694 | Located on Chromosome 22, this mutation impacts NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Acoustic neuroma | TTCAGTGAAGTCTGCCTGTAGGAATTAAAACTTTTGGTGAATTAAAAAGCTTTTTGTCCTATTGTCAGACTGGGAAATGGATGTGCCCATTACTCAGCCTTAAAAACGAGGAAGGAGATCATCTGTTAAAAATAAAACTCATCATTTTCTTTTATTCTTCTCAAAATAATCCCTAAAGACCTCAATCTTTATAGTGTTCCAGTGGCCCCACTATAGTCAGAGAGGAGACAGGGCAGAAGTTGAAGGACAGATAGGAGAAACGGCCCTGCTAAAAGATAAAAGCCAGTATGCATCTCAGCTACTTGTCTGCTGTGGTCCTG... | TTCAGTGAAGTCTGCCTGTAGGAATTAAAACTTTTGGTGAATTAAAAAGCTTTTTGTCCTATTGTCAGACTGGGAAATGGATGTGCCCATTACTCAGCCTTAAAAACGAGGAAGGAGATCATCTGTTAAAAATAAAACTCATCATTTTCTTTTATTCTTCTCAAAATAATCCCTAAAGACCTCAATCTTTATAGTGTTCCAGTGGCCCCACTATAGTCAGAGAGGAGACAGGGCAGAAGTTGAAGGACAGATAGGAGAAACGGCCCTGCTAAAAGATAAAAGCCAGTATGCATCTCAGCTACTTGTCTGCTGTGGTCCTG... |
Task1_train_28695 | This alteration occurs within gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurofibromatosis, type 2 | TTCAGTGAAGTCTGCCTGTAGGAATTAAAACTTTTGGTGAATTAAAAAGCTTTTTGTCCTATTGTCAGACTGGGAAATGGATGTGCCCATTACTCAGCCTTAAAAACGAGGAAGGAGATCATCTGTTAAAAATAAAACTCATCATTTTCTTTTATTCTTCTCAAAATAATCCCTAAAGACCTCAATCTTTATAGTGTTCCAGTGGCCCCACTATAGTCAGAGAGGAGACAGGGCAGAAGTTGAAGGACAGATAGGAGAAACGGCCCTGCTAAAAGATAAAAGCCAGTATGCATCTCAGCTACTTGTCTGCTGTGGTCCTG... | TTCAGTGAAGTCTGCCTGTAGGAATTAAAACTTTTGGTGAATTAAAAAGCTTTTTGTCCTATTGTCAGACTGGGAAATGGATGTGCCCATTACTCAGCCTTAAAAACGAGGAAGGAGATCATCTGTTAAAAATAAAACTCATCATTTTCTTTTATTCTTCTCAAAATAATCCCTAAAGACCTCAATCTTTATAGTGTTCCAGTGGCCCCACTATAGTCAGAGAGGAGACAGGGCAGAAGTTGAAGGACAGATAGGAGAAACGGCCCTGCTAAAAGATAAAAGCCAGTATGCATCTCAGCTACTTGTCTGCTGTGGTCCTG... |
Task1_train_28696 | A variant was discovered in gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary cancer-predisposing syndrome | CAAAGTGTTGGGATTAGAGGCGTGAGCTGAGCCACTGTGCCTAGCCTGAATTTTAAGAATTCTATTGTATGGCTATCCCATTGCTTTTGCATCCATCCCTTTATTGATGGCATTTGAGTATCTGTAGGTTTTTCACTTTTACAAAAATTTCTGCAGTGCACAATCTTTTATTTTTATACAATTGTATGAGTAGTTCTGGGGATATATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCAGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCATCTCCGCCTCCCAGGTTCACGCCATT... | CAAAGTGTTGGGATTAGAGGCGTGAGCTGAGCCACTGTGCCTAGCCTGAATTTTAAGAATTCTATTGTATGGCTATCCCATTGCTTTTGCATCCATCCCTTTATTGATGGCATTTGAGTATCTGTAGGTTTTTCACTTTTACAAAAATTTCTGCAGTGCACAATCTTTTATTTTTATACAATTGTATGAGTAGTTCTGGGGATATATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCAGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCATCTCCGCCTCCCAGGTTCACGCCATT... |
Task1_train_28697 | A mutation found in NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neurofibromatosis, type 2 | CAAAGTGTTGGGATTAGAGGCGTGAGCTGAGCCACTGTGCCTAGCCTGAATTTTAAGAATTCTATTGTATGGCTATCCCATTGCTTTTGCATCCATCCCTTTATTGATGGCATTTGAGTATCTGTAGGTTTTTCACTTTTACAAAAATTTCTGCAGTGCACAATCTTTTATTTTTATACAATTGTATGAGTAGTTCTGGGGATATATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCAGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCATCTCCGCCTCCCAGGTTCACGCCATT... | CAAAGTGTTGGGATTAGAGGCGTGAGCTGAGCCACTGTGCCTAGCCTGAATTTTAAGAATTCTATTGTATGGCTATCCCATTGCTTTTGCATCCATCCCTTTATTGATGGCATTTGAGTATCTGTAGGTTTTTCACTTTTACAAAAATTTCTGCAGTGCACAATCTTTTATTTTTATACAATTGTATGAGTAGTTCTGGGGATATATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCAGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCATCTCCGCCTCCCAGGTTCACGCCATT... |
Task1_train_28698 | The gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurofibromatosis, type 2 | ATACCTTCTCCATCTCAGATGAAGGGACGTATATTACACCTTACAGTCTTTGTATGCAGTAAACTTCTTTTGTGAATAGGAGGTCTTTTATATTGGGGTAGAGGTCTCAGGGAAAGTACAGGGCCAGGAACTGAAGGAGATTACCTGGCTTTTTTTTTTAATAAAAGGGTCTTGTTCTGTCACTGAGGCTGGAGTGCAGTGGTGCCATCATAGCTCACTGTAACCTCAAGCTCCTGGGCTTGAGCAATCCTTCTGCCTCAGCCCCTCAAGTAGCTGGGACTACAAGTGCATGCTACCACACCTAGTTAATTTTAATTGTT... | ATACCTTCTCCATCTCAGATGAAGGGACGTATATTACACCTTACAGTCTTTGTATGCAGTAAACTTCTTTTGTGAATAGGAGGTCTTTTATATTGGGGTAGAGGTCTCAGGGAAAGTACAGGGCCAGGAACTGAAGGAGATTACCTGGCTTTTTTTTTTAATAAAAGGGTCTTGTTCTGTCACTGAGGCTGGAGTGCAGTGGTGCCATCATAGCTCACTGTAACCTCAAGCTCCTGGGCTTGAGCAATCCTTCTGCCTCAGCCCCTCAAGTAGCTGGGACTACAAGTGCATGCTACCACACCTAGTTAATTTTAATTGTT... |
Task1_train_28699 | This variant affects gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) located on Chromosome 22. Evaluate its biological effect and specify any disease association. | Pathogenic; Neurofibromatosis, type 2 | TATCCAGACATATACATTTATGTGGTTGGGATCCGGGATCAGGGTGAAGCTGTTCTGTGTCTGCTATTTTATAGTTTGTATTTTGTTACTATCTTAGTTTGTTTTGGCTACTGTAACAAAATACCAGAGGCTGGGTAGCTTATAAACAACAGAAATTTATTTCTTGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGTCCAAGGGGGGCAGATCTCTTGAGCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTGGCACATG... | TATCCAGACATATACATTTATGTGGTTGGGATCCGGGATCAGGGTGAAGCTGTTCTGTGTCTGCTATTTTATAGTTTGTATTTTGTTACTATCTTAGTTTGTTTTGGCTACTGTAACAAAATACCAGAGGCTGGGTAGCTTATAAACAACAGAAATTTATTTCTTGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGTCCAAGGGGGGCAGATCTCTTGAGCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTGGCACATG... |
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